|
1
|
Busso C, Parisi S, Andrighetti M, Ditto MC, Massazza G, Fusaro E, Minetto MA. Ultrasound tissue characterization and function of Achilles tendon in psoriatic arthritis patients: a cross-sectional study. Eur J Phys Rehabil Med 2025; 61:109-118. [PMID: 39869127 PMCID: PMC11922164 DOI: 10.23736/s1973-9087.24.08581-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2024] [Revised: 08/07/2024] [Accepted: 12/10/2024] [Indexed: 01/28/2025]
Abstract
BACKGROUND The Achilles tendon is one of the most frequent sites of tendinopathy in both healthy and pathological subjects. An innovative approach for the quantitative assessment of the Achilles tendon structure, named Ultrasound Tissue Characterization (UTC), has recently been developed. However, no previous study performed the UTC-based assessment of the tendon structure in rheumatologic patients affected by insertional Achilles tendinopathy. AIM To characterize the Achilles tendon structure and function in psoriatic arthritis patients with symptomatic insertional tendinopathy. DESIGN Cross-sectional study. SETTING University laboratory. POPULATION Psoriatic arthritis patients (N.=17). METHODS Anthropometric measurements, administration of outcome and pain questionnaires, and tendon function and structure assessments were performed in a single experimental session. RESULTS Pain intensity and interference and the perceived tendinopathy-related disability were moderate-severe. A relevant impairment of the strength (for both lower limbs) and walking performance was observed in all patients. In fact, the plantarflexion strength values (median values for the two sides: 10.0 and 11.5 kg) and fast walking speed (median value: 1.7 m/s) were lower than the normative values for healthy controls, respectively, in all patients for the strength values and in 14 out of 17 patients for the walking speed. The conventional ultrasound (i.e., the quantification of tendon thickness and the qualitative assessments of tendon structure and neovascularization) showed greater changes in the symptomatic (or more symptomatic) side compared with the asymptomatic (or less symptomatic) side of the insertional region of the Achilles tendon. The UTC imaging showed comparable impairment of the tendon structure between the symptomatic (or more symptomatic) side and the asymptomatic (or less symptomatic) side of the insertional region of the Achilles tendon (i.e., reduced echo-type I percentages in both tendons of all patients). CONCLUSIONS Psoriatic arthritis patients with symptomatic insertional Achilles tendinopathy present moderate-severe pain and perceived disability, physical function impairments, and bilateral deterioration of the tendon structure (also in case of unilateral symptoms) that can be documented through the UTC analysis. CLINICAL REHABILITATION IMPACT The evaluation of the insertional Achilles tendinopathy through UTC imaging can be useful for the diagnostic and prognostic assessment of psoriatic arthritis patients in combination with the assessments of pain, disability, and functional performance.
Collapse
Affiliation(s)
- Chiara Busso
- Division of Physical Medicine and Rehabilitation, Department of Surgical Sciences, University of Turin, Turin, Italy
| | - Simone Parisi
- Rheumatology Unit, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy
| | - Marta Andrighetti
- Division of Physical Medicine and Rehabilitation, Department of Surgical Sciences, University of Turin, Turin, Italy
| | - Maria C Ditto
- Rheumatology Unit, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy
| | - Giuseppe Massazza
- Division of Physical Medicine and Rehabilitation, Department of Surgical Sciences, University of Turin, Turin, Italy
| | - Enrico Fusaro
- Rheumatology Unit, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy
| | - Marco A Minetto
- Division of Physical Medicine and Rehabilitation, Department of Surgical Sciences, University of Turin, Turin, Italy -
| |
Collapse
|
|
2
|
Elmas Ö, Cemali M, Livanelioğlu A. Comparison of the effects of video conference and video-based home exercise on physical performance and body composition in older adult individuals. Medicine (Baltimore) 2024; 103:e40329. [PMID: 39495999 PMCID: PMC11537661 DOI: 10.1097/md.0000000000040329] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/27/2024] [Accepted: 10/11/2024] [Indexed: 11/06/2024] Open
Abstract
BACKGROUND With the development of technology, remote access exercise interventions are frequently used in older adults. Although different technology methods are used in exercise, studies comparing these methods are limited. Based on this, the aim of the study is to compare the effect of exercise applied with video conference (VC) and video-based home exercise (VBHE) methods on physical performance, skeletal muscle mass, body fat percentage, and body mass index (BMI) in older adults. METHODS Thirty older adult individuals between the ages of 65 and 75 years participated in the study. Participants were divided into 2 groups by computer-generated randomization (allocation ratio of 1:1). VC group calisthenic exercises were performed online with the physiotherapist using the WhatsApp program. The VBHE group did the same exercises by watching videos at home. Both programs spanned 6 weeks, 3 times a week. Before and after the intervention, chair sit-stand, 6-minute walk, time up and go, single leg stance, hand grip strength, shoulder flexion strength, and knee extension strength tests were performed on older adults to evaluate their physical performance. For body composition, skeletal muscle mass, body fat percentage, and BMI were assessed using the Inbody device. RESULTS It was observed that in both VC and VBHE groups, physical performance improved statistically significantly compared to the preintervention period (P <.05), while skeletal muscle mass, body fat percentage, and BMI did not change (P ˃.05). When the groups were compared, it was concluded that the exercise program implemented with the VC method improved physical performance better than the VBHE method (P <.05), but there was no difference in skeletal muscle mass, body fat percentage and BMI values (P ˃.05). CONCLUSION It has been observed that a 6-week calisthenic exercise intervention implemented through technology methods such as VC and VBHE is a useful method for the improvement of the physical performance of older adults. However, it was concluded that the VC method is a more effective method than the VBHE method. It is predicted that the lack of improvement in body composition is due to the intensity and duration of exercise.
Collapse
Affiliation(s)
- Özgün Elmas
- Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey
| | - Mustafa Cemali
- Department of Occupational Therapy, Trakya University, Faculty of Health Sciences, Edirne, Turkey
| | - Ayşe Livanelioğlu
- Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey
| |
Collapse
|
|
3
|
Mohamed AK, Aswat M, Aharonson V. Low-Cost Dynamometer for Measuring and Regulating Wrist Extension and Flexion Motor Tasks in Electroencephalography Experiments. SENSORS (BASEL, SWITZERLAND) 2024; 24:5801. [PMID: 39275712 PMCID: PMC11397987 DOI: 10.3390/s24175801] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/31/2024] [Revised: 08/26/2024] [Accepted: 09/02/2024] [Indexed: 09/16/2024]
Abstract
A brain-computer interface could control a bionic hand by interpreting electroencephalographic (EEG) signals associated with wrist extension (WE) and wrist flexion (WF) movements. Misinterpretations of the EEG may stem from variations in the force, speed and range of these movements. To address this, we designed, constructed and tested a novel dynamometer, the IsoReg, which regulates WE and WF movements during EEG recording experiments. The IsoReg restricts hand movements to isometric WE and WF, controlling their speed and range of motion. It measures movement force using a dual-load cell system that calculates the percentage of maximum voluntary contraction and displays it to help users control movement force. Linearity and measurement accuracy were tested, and the IsoReg's performance was evaluated under typical EEG experimental conditions with 14 participants. The IsoReg demonstrated consistent linearity between applied and measured forces across the required force range, with a mean accuracy of 97% across all participants. The visual force gauge provided normalised force measurements with a mean accuracy exceeding 98.66% across all participants. All participants successfully controlled the motor tasks at the correct relative forces (with a mean accuracy of 89.90%) using the IsoReg, eliminating the impact of inherent force differences between typical WE and WF movements on the EEG analysis. The IsoReg offers a low-cost method for measuring and regulating movements in future neuromuscular studies, potentially leading to improved neural signal interpretation.
Collapse
Affiliation(s)
- Abdul-Khaaliq Mohamed
- School of Electrical and Information Engineering, University of Witwatersrand, Johannesburg 2050, South Africa
| | - Muhammed Aswat
- School of Electrical and Information Engineering, University of Witwatersrand, Johannesburg 2050, South Africa
| | - Vered Aharonson
- School of Electrical and Information Engineering, University of Witwatersrand, Johannesburg 2050, South Africa
- Medical School, University of Nicosia, Nicosia 2421, Cyprus
| |
Collapse
|
|
4
|
Ismailova G, Wagenmakers MAEM, Brusse E, van der Ploeg AT, Favejee MM, van der Beek NAME, van den Berg LEM. Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up. Orphanet J Rare Dis 2023; 18:319. [PMID: 37821981 PMCID: PMC10566098 DOI: 10.1186/s13023-023-02924-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/10/2023] [Accepted: 09/22/2023] [Indexed: 10/13/2023] Open
Abstract
BACKGROUND In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6-70.5 years) improved endurance, muscle strength and function. Data on long-term effects of this program or of other physical activity in Pompe disease are absent. This retrospective cohort study aimed to explore effects of long-term healthy physical activity according to the WHO norm and the former exercise training program on the disease course. RESULTS A total of 29 adult late onset Pompe patients were included: 19 former exercise training program participants and 10 comparable control patients. Patients, who based on interviews, met the 2010 WHO healthy physical activity norm (active, n = 16) performed better on endurance (maximal cardiopulmonary exercise test), muscle strength and function compared to patients not meeting this norm (inactive, n = 13) (p < 0.05). Majority of the outcomes, including endurance and manually tested muscle strength, tended to be higher in the active patients of the 2011 training cohort who continued the program compared to active control patients (p > 0.05). CONCLUSION In Pompe disease long-term healthy physical activity according to the 2010 WHO norm leads to physical benefits and a personalized exercise training program may have additional favorable effects and both should be recommended as standard of care.
Collapse
Affiliation(s)
- Gamida Ismailova
- Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children’s Hospital, Mailbox 2060, 3000 CB Rotterdam, The Netherlands
| | - Margreet A. E. M. Wagenmakers
- Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA Rotterdam, The Netherlands
| | - Esther Brusse
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA Rotterdam, The Netherlands
| | - Ans T. van der Ploeg
- Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children’s Hospital, Mailbox 2060, 3000 CB Rotterdam, The Netherlands
| | - Marein M. Favejee
- Department of Physical Therapy, Erasmus Medical Center, Mailbox 2040, 3000 CA Rotterdam, The Netherlands
| | - Nadine A. M. E. van der Beek
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Mailbox 2040, 3000 CA Rotterdam, The Netherlands
| | - Linda E. M. van den Berg
- Department of Orthopedics and Sports Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Sophia Children’s Hospital, Mailbox 2060, 3000 CB Rotterdam, The Netherlands
| |
Collapse
|
|
5
|
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study. Neurol Genet 2023; 9:e200089. [PMID: 37476021 PMCID: PMC10356133 DOI: 10.1212/nxg.0000000000200089] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2023] [Accepted: 05/31/2023] [Indexed: 07/22/2023]
Abstract
Background and Objectives LAMA2-related muscular dystrophy (LAMA2-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory impairment. No curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data, and appropriate clinical and functional outcome measures are needed. We aim for deep clinical phenotyping, establishment of a well-characterized baseline cohort for prospective follow-up and recruitment for future clinical trials, improvement of clinical care, and selection of outcome measures for reaching trial readiness. Methods We performed a cross-sectional, single-center, observational study. This study included neurologic examination and functional measurements among others the Motor Function Measure 20/32 (MFM-20/32) as primary outcome measure, accelerometry, questionnaires, muscle ultrasound, respiratory function tests, electrocardiography and echocardiography, and dual-energy X-ray absorptiometry. Results Twenty-seven patients with genetically confirmed LAMA2-MD were included (21 ± 13 years; M = 9; ambulant = 7). Axial and proximal muscle weakness was most pronounced. The mean MFM-20/32 score was 42.0% ± 29.4%, with domain 1 (standing and transfers) being severely affected and domain 3 (distal muscle function) relatively spared. Physical activity as measured through accelerometry showed very strong correlations to MFM-20/32 (Pearson correlation, -0.928, p < 0.01). Muscle ultrasound showed symmetrically increased echogenicity, with the sternocleidomastoid muscle most affected. Respiratory function was impaired in 85% of patients without prominent diaphragm dysfunction and was independent of age. Ten patients (37%) needed (non)invasive ventilatory support. Cardiac assessment revealed QRS fragmentation in 62%, abnormal left ventricular global longitudinal strain in 25%, and decreased left ventricular ejection fraction in 14% of patients. Decreased bone quality leading to fragility fractures was seen in most of the patients. Discussion LAMA2-MD has a widely variable phenotype. Based on the results of this cross-sectional study and current standards of care for congenital muscular dystrophies, we advise routine cardiorespiratory follow-up and optimization of bone quality. We propose MFM-20/32, accelerometry, and muscle ultrasound for assessing disease severity and progression. For definitive clinical recommendations and outcome measures, natural history data are needed. Clinical Trials Registration This study was registered at clinicaltrials.gov (NCT04478981, 21 July 2020). The first patient was enrolled in September 2020.
Collapse
Affiliation(s)
- Karlijn Bouman
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Jan T Groothuis
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Jonne Doorduin
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Nens van Alfen
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Floris E A Udink Ten Cate
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Frederik M A van den Heuvel
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Robin Nijveldt
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Erik-Jan Kamsteeg
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Anne T M Dittrich
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Jos M T Draaisma
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Mirian C H Janssen
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Baziel G M van Engelen
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Corrie E Erasmus
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| | - Nicol C Voermans
- From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands
| |
Collapse
|
|
6
|
Hobbs SJ, Alexander J, Wilkins C, St. George L, Nankervis K, Sinclair J, Penhorwood G, Williams J, Clayton HM. Towards an Evidence-Based Classification System for Para Dressage: Associations between Impairment and Performance Measures. Animals (Basel) 2023; 13:2785. [PMID: 37685049 PMCID: PMC10487214 DOI: 10.3390/ani13172785] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/08/2023] [Revised: 08/19/2023] [Accepted: 08/30/2023] [Indexed: 09/10/2023] Open
Abstract
This study follows a previously defined framework to investigate the impact of impairment on performance in Para dressage athletes. Twenty-one elite Para dressage athletes (grades I to V) and eleven non-disabled dressage athletes (competing at Prix St. Georges or Grand Prix) participated. Data were collected in two phases: performing a two minute custom dressage test on a riding simulator while kinematic data were synchronously collected using inertial measurement units (2000 Hz) and optical motion capture (100 Hz), and clinically assessed using a battery of impairment assessment tools administered by qualified therapists. Impairment and performance measures were compared between Para and non-disabled athletes. Significant differences between athlete groups were found for all impairment measures and two performance measures: simulator trunk harmonics (p = 0.027) and athlete trunk dynamic symmetry (p < 0.001). Impairment assessments of sitting function and muscle tone could predict 19 to 35% of the impact of impairment on performance in Para athletes but not in non-disabled athletes. These findings provide the basis for a robust, scientific evidence base, which can be used to aid in the refinement of the current classification system for Para dressage, to ensure that it is in line with the International Paralympic Committee's mandate for evidence-based systems of classification.
Collapse
Affiliation(s)
- Sarah Jane Hobbs
- Research Centre for Applied Sport, Physical Activity and Performance, University of Central Lancashire, Preston PR1 2HE, UK; (J.A.); (L.S.G.); (J.S.)
| | - Jill Alexander
- Research Centre for Applied Sport, Physical Activity and Performance, University of Central Lancashire, Preston PR1 2HE, UK; (J.A.); (L.S.G.); (J.S.)
| | - Celeste Wilkins
- Sport and Exercise Department, Hartpury University, Hartpury, Gloucester GL19 3BE, UK;
| | - Lindsay St. George
- Research Centre for Applied Sport, Physical Activity and Performance, University of Central Lancashire, Preston PR1 2HE, UK; (J.A.); (L.S.G.); (J.S.)
| | - Kathryn Nankervis
- Equine Department, Hartpury University, Hartpury, Gloucester GL19 3BE, UK; (K.N.); (J.W.); (H.M.C.)
| | - Jonathan Sinclair
- Research Centre for Applied Sport, Physical Activity and Performance, University of Central Lancashire, Preston PR1 2HE, UK; (J.A.); (L.S.G.); (J.S.)
| | - Gemma Penhorwood
- Department of Animal and Agriculture, Hartpury University, Hartpury, Gloucester GL19 3BE, UK;
| | - Jane Williams
- Equine Department, Hartpury University, Hartpury, Gloucester GL19 3BE, UK; (K.N.); (J.W.); (H.M.C.)
| | - Hilary M. Clayton
- Equine Department, Hartpury University, Hartpury, Gloucester GL19 3BE, UK; (K.N.); (J.W.); (H.M.C.)
| |
Collapse
|
|
7
|
Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C. New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients. Int J Mol Sci 2023; 24:12474. [PMID: 37569848 PMCID: PMC10420187 DOI: 10.3390/ijms241512474] [Citation(s) in RCA: 7] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/04/2023] [Revised: 07/30/2023] [Accepted: 08/04/2023] [Indexed: 08/13/2023] Open
Abstract
Pathogenetic mechanism recognition and proof-of-concept clinical trials were performed in our patients affected by collagen VI-related myopathies. This study, which included 69 patients, aimed to identify innovative clinical data to better design future trials. Among the patients, 33 had Bethlem myopathy (BM), 24 had Ullrich congenital muscular dystrophy (UCMD), 7 had an intermediate phenotype (INTM), and five had myosclerosis myopathy (MM). We obtained data on muscle strength, the degree of contracture, immunofluorescence, and genetics. In our BM group, only one third had a knee extension strength greater than 50% of the predicted value, while only one in ten showed similar retention of elbow flexion. These findings should be considered when recruiting BM patients for future trials. All the MM patients had axial and limb contractures that limited both the flexion and extension ranges of motion, and a limitation in mouth opening. The immunofluorescence analysis of collagen VI in 55 biopsies from 37 patients confirmed the correlation between collagen VI defects and the severity of the clinical phenotype. However, biopsies from the same patient or from patients with the same mutation taken at different times showed a progressive increase in protein expression with age. The new finding of the time-dependent modulation of collagen VI expression should be considered in genetic correction trials.
Collapse
Affiliation(s)
- Luciano Merlini
- Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy;
| | - Patrizia Sabatelli
- Unit of Bologna, CNR-Institute of Molecular Genetics “Luigi Cavalli Sforza”, 40136 Bologna, Italy;
- IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy
| | - Francesca Gualandi
- Department of Medical Sciences, Unit of Medical Genetics, Università degli Studi di Ferrara, 44100 Ferrara, Italy;
| | - Edoardo Redivo
- Department of Statistical Sciences, University of Bologna, 40126 Bologna, Italy;
| | - Alberto Di Martino
- Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy;
- I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy
| | - Cesare Faldini
- Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy;
- I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy
| |
Collapse
|
|
8
|
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink ten Cate FE, van den Heuvel FM, Nijveldt R, Kamsteeg EJ, Dittrich AT, Draaisma JM, Janssen MC, van Engelen BG, Erasmus CE, Voermans NC. SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness. J Neuromuscul Dis 2023; 10:1055-1074. [PMID: 37807786 PMCID: PMC10657684 DOI: 10.3233/jnd-221673] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/11/2023] [Indexed: 10/10/2023]
Abstract
BACKGROUND SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. No curative treatment options exist, but promising preclinical studies are ongoing. Currently, natural history data are lacking, while selection of appropriate clinical and functional outcome measures is needed to reach trial readiness. OBJECTIVE We aim to identify all Dutch and Dutch-speaking Belgian SELENON-RM patients, deep clinical phenotyping, trial readiness and optimization of clinical care. METHODS This cross-sectional, single-center, observational study comprised neurological examination, functional measurements including Motor Function Measurement 20/32 (MFM-20/32) and accelerometry, questionnaires, muscle ultrasound, respiratory function tests, electro- and echocardiography, and dual-energy X-ray absorptiometry. RESULTS Eleven patients with genetically confirmed SELENON-RM were included (20±13 (3-42) years, 73% male). Axial and proximal muscle weakness were most pronounced. The mean MFM-20/32 score was 71.2±15.1%, with domain 1 (standing and transfers) being most severely affected. Accelerometry showed a strong correlation with MFM-20/32. Questionnaires revealed impaired quality of life, pain and problematic fatigue. Muscle ultrasound showed symmetrically increased echogenicity in all muscles. Respiratory function, and particularly diaphragm function, was impaired in all patients, irrespective of the age. Cardiac assessment showed normal left ventricular systolic function in all patients but abnormal left ventricular global longitudinal strain in 43% of patients and QRS fragmentation in 80%. Further, 80% of patients showed decreased bone mineral density on dual-energy X-ray absorptiometry scan and 55% of patients retrospectively experienced fragility long bone fractures. CONCLUSIONS We recommend cardiorespiratory follow-up as a part of routine clinical care in all patients. Furthermore, we advise vitamin D supplementation and optimization of calcium intake to improve bone quality. We recommend management interventions to reduce pain and fatigue. For future clinical trials, we propose MFM-20/32, accelerometry and muscle ultrasound to capture disease severity and possibly disease progression.
Collapse
Affiliation(s)
- Karlijn Bouman
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
- Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Jan T. Groothuis
- Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Jonne Doorduin
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Nens van Alfen
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Floris E.A. Udink ten Cate
- Department of Pediatric cardiology, Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | | | - Robin Nijveldt
- Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands
| | - Erik-Jan Kamsteeg
- Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands
| | - Anne T.M. Dittrich
- Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Jos M.T. Draaisma
- Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Mirian C.H. Janssen
- Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands
| | - Baziel G.M. van Engelen
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Corrie E. Erasmus
- Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Nicol C. Voermans
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| |
Collapse
|
|
9
|
Weterings S, Oppewal A, Bierma‐Zeinstra SMA, Hilgenkamp TIM. The responsiveness of muscle strength tests in adults with intellectual disabilities. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH : JIDR 2022; 66:988-999. [PMID: 35481620 PMCID: PMC9790239 DOI: 10.1111/jir.12935] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 09/23/2021] [Revised: 03/29/2022] [Accepted: 04/07/2022] [Indexed: 06/14/2023]
Abstract
BACKGROUND Muscle strength is both a strong predictor for future negative health outcomes and a prerequisite for physical fitness and daily functioning of adults with ID. Therefore, it is important to be able to monitor the muscle strength of adults with ID over time. The aim of this study is to assess the responsiveness of five field tests that measure muscle strength and endurance (grip strength, hand-held dynamometry of leg extension and arm flexion, 10RM-test of the seated squat and the biceps curl, 30-s chair stand and the 5-times Chair stand) in adults with ID after a 24-week resistance-exercise training (RT) programme. METHOD The responsiveness of the five muscle strength and endurance tests was assessed by correlating the change scores of the five tests with the slope of the training progression of specific exercises within the RT-programme, namely, the step up, seated squat, biceps curl and triceps curl. RESULTS The 10RM-test of the seated squat was significantly correlated with the step up (R = 0.53, P = 0.02) and the seated squat (R = 0.70 P = 0.00). None of change scores on the other tests was significantly correlated with the training progression of the exercises. CONCLUSION The 10RM test of the seated squat could potentially be used to evaluate the effects of an RT-programme in adults with ID. Responsiveness of the grip strength, hand held dynamometry, 10RM-test of the biceps curl, 30-s chair stand and the 5-times chair stand could not yet be confirmed.
Collapse
Affiliation(s)
- S. Weterings
- Department of General Practice, Intellectual Disability MedicineErasmus MC University Medical Center RotterdamRotterdamThe Netherlands
- Abrona, Healthcare Provider for People with an Intellectual DisabilityHuis ter HeideThe Netherlands
| | - A. Oppewal
- Department of General Practice, Intellectual Disability MedicineErasmus MC University Medical Center RotterdamRotterdamThe Netherlands
| | - S. M. A. Bierma‐Zeinstra
- Department of General PracticeErasmus MC University Medical Center RotterdamRotterdamThe Netherlands
| | - T. I. M. Hilgenkamp
- Department of General Practice, Intellectual Disability MedicineErasmus MC University Medical Center RotterdamRotterdamThe Netherlands
- Department of Physical TherapyUniversity of NevadaLas VegasNevadaUSA
| |
Collapse
|
|
10
|
Ucero-Lozano R, Pérez-Llanes R, López-Pina JA, Cuesta-Barriuso R. Approach to Knee Arthropathy through 180-Degree Immersive VR Movement Visualization in Adult Patients with Severe Hemophilia: A Pilot Study. J Clin Med 2022; 11:jcm11206216. [PMID: 36294536 PMCID: PMC9605271 DOI: 10.3390/jcm11206216] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2022] [Revised: 10/17/2022] [Accepted: 10/19/2022] [Indexed: 11/07/2022] Open
Abstract
(1) Background: Hemarthrosis is a typical clinical manifestation in patients with hemophilia. Its recurrence causes hemophilic arthropathy, characterized by chronic joint pain. Watching movement recorded from a first-person perspective and immersively can be effective in the management of chronic pain. The objective of this study was to evaluate the effectiveness of an immersive virtual reality intervention in improving the pain intensity, joint condition, muscle strength and range of motion in patients with hemophilic knee arthropathy. (2) Methods: Thirteen patients with hemophilic knee arthropathy were recruited. The patients wore virtual reality glasses and watched a flexion-extension movement of the knee on an immersive 180° video, recorded from a first-person perspective over a 28-day period. The primary variable was the pain intensity (visual analog scale). The secondary variables were the joint status (Hemophilia Joint Health Score), quadriceps and hamstring strength (dynamometry), and range of motion (goniometry). (3) Results: After the intervention period, statistically significant differences were observed in the intensity of the joint pain (Standard error [SE] = 19.31; 95% interval confidence [95%CI] = -1.05; -0.26), joint condition (SE = 18.68; 95%CI = -1.16; -0.52) and quadriceps strength (SE = 35.00; 95%CI = 2.53; 17.47). We found that 38.46% and 23.07% of the patients exhibited an improvement in their quadriceps muscle strength and joint condition above the minimum detectable change for both variables (8.21% and 1.79%, respectively). (4) Conclusions: One hundred and eighty degree immersive VR motion visualization can improve the intensity of joint pain in patients with hemophilic knee arthropathy. An intervention using immersive virtual reality can be an effective complementary approach to improve the joint condition and quadriceps strength in these patients.
Collapse
Affiliation(s)
| | - Raúl Pérez-Llanes
- Department of Physiotherapy, Catholic University San Antonio-UCAM, 30107 Murcia, Spain
| | | | - Rubén Cuesta-Barriuso
- Department of Surgery and Medical-Surgical Specialties, University of Oviedo, 33006 Oviedo, Spain
- Correspondence: ; Tel.: +34-985103386
| |
Collapse
|
|
11
|
Aneksan B, Sawatdipan M, Bovonsunthonchai S, Tretriluxana J, Vachalathiti R, Auvichayapat P, Pheungphrarattanatrai A, Piriyaprasarth P, Klomjai W. Five-Session Dual-Transcranial Direct Current Stimulation With Task-Specific Training Does Not Improve Gait and Lower Limb Performance Over Training Alone in Subacute Stroke: A Pilot Randomized Controlled Trial. Neuromodulation 2022; 25:558-568. [PMID: 35667771 DOI: 10.1111/ner.13526] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2021] [Revised: 07/15/2021] [Accepted: 07/28/2021] [Indexed: 02/03/2023]
Abstract
OBJECTIVE To determine the effect of five-session dual-transcranial direct current stimulation (dual-tDCS) combined with task-specific training on gait and lower limb motor performance in individuals with subacute stroke. MATERIALS AND METHODS Twenty-five participants who had a stroke in the subacute phase with mild motor impairment were recruited, randomized, and allocated into two groups. The active group (n = 13) received dual-tDCS with anodal over the lesioned hemisphere M1 and cathodal over the nonlesioned hemisphere, at 2 mA for 20 min before training for five consecutive days, while the sham group (n = 12) received sham mode before training. Gait speed as a primary outcome, temporospatial gait variables, lower-limb functional tasks (sit-to-stand and walking mobility), and muscle strength as secondary outcomes were collected at preintervention and postintervention (day 5), one-week follow-up, and one-month follow-up. RESULTS The primary outcome and most of the secondary outcomes were improved in both groups, with no significant difference between the two groups, and most of the results indicated small to moderate effect sizes of active tDCS compared to sham tDCS. CONCLUSION The combined intervention showed no benefit over training alone in improving gait variables and lower-limb performance. However, some performances were saturated at some point, as moderate to high function participants were recruited in the present study. Future studies should consider recruiting participants with more varied motor impairment levels and may need to determine the optimal stimulation protocols and parameters to improve gait and lower-limb performance.
Collapse
Affiliation(s)
- Benchaporn Aneksan
- Neuro Electrical Stimulation laboratory (NeuE), Faculty of Physical Therapy, Mahidol University, Salaya, Nakhon Pathom, Thailand; Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand
| | - Montawan Sawatdipan
- Neuro Electrical Stimulation laboratory (NeuE), Faculty of Physical Therapy, Mahidol University, Salaya, Nakhon Pathom, Thailand; Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand
| | - Sunee Bovonsunthonchai
- Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand
| | - Jarugool Tretriluxana
- Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand
| | - Roongtiwa Vachalathiti
- Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand
| | - Paradee Auvichayapat
- Department of Physiology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
| | | | - Pagamas Piriyaprasarth
- Neuro Electrical Stimulation laboratory (NeuE), Faculty of Physical Therapy, Mahidol University, Salaya, Nakhon Pathom, Thailand; Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand
| | - Wanalee Klomjai
- Neuro Electrical Stimulation laboratory (NeuE), Faculty of Physical Therapy, Mahidol University, Salaya, Nakhon Pathom, Thailand; Faculty of Physical Therapy Mahidol University, Salaya, Phutthamonthon, Nakhon Pathom, Thailand.
| |
Collapse
|
|
12
|
Çelik MS, Sönmezer E, Acar M. Effectiveness of proprioceptive neuromuscular facilitation and myofascial release techniques in patients with subacromial impingement syndrome. Somatosens Mot Res 2022; 39:97-105. [PMID: 34991428 DOI: 10.1080/08990220.2021.2018293] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/15/2022]
Abstract
PURPOSE To compare the effectiveness of proprioceptive neuromuscular facilitation and myofascial release technique in patients with subacromial impingement syndrome on pain, range of motion, muscle strength, quality of life, functionality and disability. METHODS Thirty patients were randomly divided into two groups: proprioceptive neuromuscular facilitation group (n = 15) and proprioceptive neuromuscular facilitation combined with myofascial release technique group (n = 15). Both treatment methods were performed 3 times a week for 4 weeks. Pain severity was assessed by Visuel Analog Scale, range of motion by a goniometer, muscle strength by digital hand dynamometer, quality of life by Nottingham health profile, functionality by arm, shoulder and hand problems questionnaire, disability by shoulder pain and disability index. All measurements were used before and after treatments. Pain severity, range of motion and muscle strength were also evaluated after the first session. RESULTS After the treatment, shoulder pain, range of motion, muscle strength, functionality and disability were improved in two groups (p < 0.05). Proprioceptive neuromuscular facilitation showed improvement in pain, whereas myofascial release technique improved pain, physical activity, emotional state, sleep and total dimensions of life quality (p < 0.05). Proprioceptive neuromuscular facilitation was more effective in reducing activity pain, whereas myofascial release technique was more effective in increasing flexion, external and internal rotation range of motion, flexion and abduction muscle strength after the first session (p < 0.05). CONCLUSIONS The combined application of proprioceptive neuromuscular facilitation and myofascial release technique has a more acute and cumulative positive effect on pain, range of motion, muscle strength, functionality, disability and quality of life in patients with subacromial impingement syndrome.
Collapse
Affiliation(s)
- Merve Sinem Çelik
- Physiotherapy and Rehabilitation Department, Baskent University Hospital, Ankara, Turkey
| | - Emel Sönmezer
- Physiotherapy and Rehabilitation Department, Faculty of Health Sciences, Atilim University, Ankara, Turkey
| | - Manolya Acar
- Physiotherapy and Rehabilitation Department, Faculty of Health Sciences, Baskent University, Ankara, Turkey
| |
Collapse
|
|
13
|
Bergs PMJ, Maas DM, Janssen MCH, Groothuis JT. Feasible and clinical relevant outcome measures for adults with mitochondrial disease. Mol Genet Metab 2022; 135:102-108. [PMID: 34961688 DOI: 10.1016/j.ymgme.2021.12.010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/14/2021] [Revised: 12/15/2021] [Accepted: 12/17/2021] [Indexed: 11/29/2022]
Abstract
There is no consensus on clinical outcome measures that reflect function, activities and participation which are suitable for adults with mitochondrial diseases (MD). The aim of this study was to determine feasible and clinically relevant outcome measures for patients with MD . In 156 adult patients with MD, endurance, balance, strength and mobility tests were evaluated. All tests showed a negative deviation to healthy reference values. Balance tests were feasible and significantly correlated with clinical severity. The Åstrand cycle test was not feasible in 55%, whereas the feasibility of the 6 min walking test is unclear in patients with MD.
Collapse
Affiliation(s)
- Peggy M J Bergs
- Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Department of Rehabilitation, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Internal Medicine, Radboud university medical center, Nijmegen, the Netherlands
| | - Daphne M Maas
- Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Department of Rehabilitation, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Rehabilitation, Radboud university medical center, Nijmegen, the Netherlands
| | - Mirian C H Janssen
- Radboud Center for Mitochondrial Medicine, Department of Rehabilitation, Radboud university medical center, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Internal Medicine, Radboud university medical center, Nijmegen, the Netherlands
| | - Jan T Groothuis
- Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Department of Rehabilitation, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Rehabilitation, Radboud university medical center, Nijmegen, the Netherlands.
| |
Collapse
|
|
14
|
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study. BMC Neurol 2021; 21:313. [PMID: 34384384 PMCID: PMC8357962 DOI: 10.1186/s12883-021-02336-z] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/23/2021] [Accepted: 07/27/2021] [Indexed: 12/15/2022] Open
Abstract
BACKGROUND SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the LAMA2 gene (LAMA2-related muscular dystrophy, LAMA2-MD) has a similar clinical phenotype, with either a severe, early-onset due to complete Laminin subunit α2 deficiency (merosin-deficient congenital muscular dystrophy type 1A (MDC1A)), or a mild, childhood- or adult-onset due to partial Laminin subunit α2 deficiency. For both muscle diseases, no curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data and appropriate clinical and functional outcome measures are needed to reach trial readiness. METHODS LAST STRONG is a natural history study in Dutch-speaking patients of all ages diagnosed with SELENON-RM or LAMA2-MD, starting August 2020. Patients have four visits at our hospital over a period of 1.5 year. At all visits, they undergo standardized neurological examination, hand-held dynamometry (age ≥ 5 years), functional measurements, questionnaires (patient report and/or parent proxy; age ≥ 2 years), muscle ultrasound including diaphragm, pulmonary function tests (spirometry, maximal inspiratory and expiratory pressure, sniff nasal inspiratory pressure; age ≥ 5 years), and accelerometry for 8 days (age ≥ 2 years); at visit one and three, they undergo cardiac evaluation (electrocardiogram, echocardiography; age ≥ 2 years), spine X-ray (age ≥ 2 years), dual-energy X-ray absorptiometry (DEXA-)scan (age ≥ 2 years) and full body magnetic resonance imaging (MRI) (age ≥ 10 years). All examinations are adapted to the patient's age and functional abilities. Correlation between key parameters within and between subsequent visits will be assessed. DISCUSSION Our study will describe the natural history of patients diagnosed with SELENON-RM or LAMA2-MD, enabling us to select relevant clinical and functional outcome measures for reaching clinical trial-readiness. Moreover, our detailed description (deep phenotyping) of the clinical features will optimize clinical management and will establish a well-characterized baseline cohort for prospective follow-up. CONCLUSION Our natural history study is an essential step for reaching trial readiness in SELENON-RM and LAMA2-MD. TRIAL REGISTRATION This study has been approved by medical ethical reviewing committee Region Arnhem-Nijmegen (NL64269.091.17, 2017-3911) and is registered at ClinicalTrial.gov ( NCT04478981 ).
Collapse
Affiliation(s)
- Karlijn Bouman
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
- Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
| | - Jan T Groothuis
- Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Jonne Doorduin
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Nens van Alfen
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Floris E A Udink Ten Cate
- Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | | | - Robin Nijveldt
- Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands
| | | | - Stan C F M Buckens
- Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands
| | - Anne T M Dittrich
- Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Jos M T Draaisma
- Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Mirian C H Janssen
- Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands
| | - Erik-Jan Kamsteeg
- Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands
| | - Esmee S B van Kleef
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Saskia Koene
- Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
| | | | - Benno Küsters
- Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands
| | | | - Hubert J M Smeets
- Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands
- School for Mental Health and Neurosciences (MHeNS), Maastricht University, Maastricht, the Netherlands
- School for Developmental Biology and Oncology (GROW), Maastricht University, Maastricht, The Netherlands
| | - Baziel G M van Engelen
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| | - Corrie E Erasmus
- Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands
| | - Nicol C Voermans
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands
| |
Collapse
|
|
15
|
Hooyman A, Malek-Ahmadi M, Fauth EB, Schaefer SY. Challenging the relationship of grip strength with cognitive status in older adults. Int J Geriatr Psychiatry 2021; 36:433-442. [PMID: 33027842 DOI: 10.1002/gps.5441] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/07/2020] [Revised: 09/21/2020] [Accepted: 10/02/2020] [Indexed: 01/17/2023]
Abstract
OBJECTIVE Grip strength is a widely used motor assessment in ageing research and has repeatedly been shown to be associated with cognition. It has been proposed that grip strength could enhance cognitive screening in experimental or clinical research, but this study uses multiple data-driven approaches to caution against this interpretation. Furthermore, we introduce an alternative motor assessment, comparable to grip dynamometry, but has a more robust relationship with cognition among older adults. DESIGN Associations between grip strength and cognition (measured with the Montreal Cognitive Assessment) were analysed cross sectionally using multivariate regression in two datasets: (1) The Irish LongituDinal Study on Ageing (TILDA; N = 5,980, community-dwelling adults ages 49-80) and (2) an experimental dataset (N = 250, community-dwelling adults aged 39-98). Additional statistical simulations on TILDA tested how ceiling effects or skewness in these variables influenced these associations for quality control. RESULTS Grip strength was significantly but weakly associated with cognition, consistent with previous studies. Simulations revealed this was not due to skewness/ceiling effects. Conversely, a new alternative motor assessment (functional reaching [FR]) had a stronger, more robust and more sensitive relationship with cognition compared to grip strength. CONCLUSIONS Grip strength should be cautiously interpreted as being associated with cognition. However, FR may have a stronger and clinically useful relationship with cognition.
Collapse
Affiliation(s)
- Andrew Hooyman
- School of Biological and Health Systems Engineering, Arizona State University, Tempe, Arizona, USA
| | | | - Elizabeth B Fauth
- Department of Human Development and Family Studies, Utah State University, Logan, Utah, USA
| | - Sydney Y Schaefer
- School of Biological and Health Systems Engineering, Arizona State University, Tempe, Arizona, USA
| |
Collapse
|
|
16
|
Nepomuceno Júnior BRV, Menezes MPDS, Santos KRBD, Gomes Neto M. COMPARISON OF METHODS FOR EVALUATING UPPER LIMB STRENGTH BY HAND-HELD DYNAMOMETRY. REV BRAS MED ESPORTE 2021. [DOI: 10.1590/1517-8692202127012020_0008] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
ABSTRACT Introduction The upper limbs are segments of the human body responsible for primary activities of daily life, and the muscles are essential structures for performing these activities. There have been few studies on intra- and inter-examiner reliability of the hand-held dynamometer (HHD) in healthy subjects, and none have been published that compare dynamometric evaluation methods in the main muscles in this segment. Objective Evaluate intra-examiner and inter-examiner assessment reliability of the hand-held dynamometry of upper limb muscles in healthy individuals, as well as comparing the assessment reliability between fixed and non-fixed methods. Methods Healthy subjects aged over 18 years were recruited for the study. The isometric contraction for ten muscle groups of the dominant upper limb was tested. For the fixed method, we used a system of suction cups, connected to the HHD by an inelastic belt. For the non-fixed method, the examiner supported the device by hand. The isometric contraction was sustained for three seconds. Each measurement was repeated three times, considering the highest value obtained. The reliability was calculated using the intraclass correlation coefficient (ICC). The dispersion between measurements was expressed by a Bland-Altman plot. Results The sample consisted of 25 volunteers, all right-handed. The intra-examiner ICC was 0.89-0.99 for the non-fixed method, and 0.43 to 0.85 for the fixed method. Inter-examiner reliability showed equivalent behavior. This study showed that evaluation of upper limb muscle strength using an isometric dynamometer has excellent intra-examiner and inter-examiner reliability. The supine position was chosen due to the need to propose a feasible protocol for clinical practice that could be replicated for the majority of publics and in different environments. The non-fixed method showed better reliability overall, demonstrating the feasibility of this tool without the need for adaptations, additional devices, or increased operating costs for this evaluation. Conclusion Comparison between the fixed and non-fixed HHD methods demonstrated superiority of the non-fixed method in terms of reliability. Level of evidence II; Investigation of a diagnostic exam - Development of diagnostic criteria with consecutive patients.
Collapse
|
|
17
|
Verwaaijen EJ, Corbijn DM, Hulst AM, Neggers SJ, Boot AM, Heuvel‐Eibrink MM, Hartman A, Pluijm SM. Frailty in long‐term Dutch adult survivors of childhood acute myeloid leukaemia, neuroblastoma, and Wilms' tumour. JCSM CLINICAL REPORTS 2020. [DOI: 10.1002/crt2.14] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022] Open
Affiliation(s)
- Emma J. Verwaaijen
- Pediatric Oncology Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands
| | - Daniëlle M. Corbijn
- Pediatric Oncology Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands
| | - Annelienke M. Hulst
- Pediatric Oncology Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands
| | - Sebastian J.C.M.M. Neggers
- Pediatric Oncology Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands
- Section of Endocrinology, Department of Medicine Erasmus Medical Center Rotterdam The Netherlands
| | - Annemieke M. Boot
- Division of Endocrinology, Department of Pediatrics University Medical Center Groningen, University of Groningen Groningen The Netherlands
| | | | - Annelies Hartman
- Department of Pediatric Physiotherapy Erasmus Medical Center‐Sophia Children's Hospital Rotterdam The Netherlands
| | - Saskia M.F. Pluijm
- Pediatric Oncology Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands
| |
Collapse
|
|
18
|
Mohamed D, Abd Alazim F, Salem E, Ali N, Elgalaly D. Aerobic training versus strength exercises on muscle strength and quality of life for children with acute lymphoblastic leukemia. BULLETIN OF FACULTY OF PHYSICAL THERAPY 2020. [DOI: 10.1186/s43161-020-00007-7] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/10/2022] Open
Abstract
Abstract
Background
The treatment for children and adolescents with acute lymphoblastic leukemia (ALL) can lead to multiple adverse effects, including poor physical capacity and muscle weakness. This study aimed to determine which is more effective, aerobic exercises or modified strength training program, on muscle strength and quality of life (QOL) for children with ALL.
Results
In terms of muscle strength, there was a significant difference (P < 0.05) in selected group of muscles elbow flexors, shoulder abductors, hip flexors, knee extensors, and ankle dorsiflexors at both sides in group B compared with group A, whereas there was no significant difference (P > 0.05) between groups on QOL.
Conclusion
The outcomes of the study showed that there was a significant difference in the selected group of muscles at both sides in group B compared with group A; thus, the modified strength training program is more effective for muscle strength of children with ALL than aerobic training, but there was no significant difference between them on QOL.
Trial registration
The clinical trial registered in clinicaltrials.gov with an identifier number NCT03147365
Collapse
|
|
19
|
Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study. Orphanet J Rare Dis 2020; 15:232. [PMID: 32883321 PMCID: PMC7469279 DOI: 10.1186/s13023-020-01469-7] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2020] [Accepted: 07/21/2020] [Indexed: 11/17/2022] Open
Abstract
Background Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease. Methods We included 121 Dutch adult patients with Pompe disease. Physical outcomes comprised muscle strength (manual muscle testing using Medical Research Council [MRC] grading, hand-held dynamometry [HHD]), walking ability (6-min walk test [6MWT]), and pulmonary function (forced vital capacity [FVC] in upright and supine positions). PROMs comprised quality of life (Short Form 36 health survey [SF-36]), participation (Rotterdam Handicap Scale [RHS]) and daily-life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale). Analyses were cross-sectional: the time-point before, and closest to, start of Enzyme Replacement Therapy was chosen. Associations between PROMs and physical outcomes were investigated using linear regression models. Results RHS and R-PAct scores were better in patients with higher FVC supine and upright, HHD, MRC and 6MWT scores, accounting for the effect of sex, disease duration, use of wheelchair and ventilator support. While the SF-36 Physical Component Summary (PCS) was correlated positively with FVC upright, HHD, MRC and 6MWT scores, there was no significant relationship between the SF-36 Mental Component Summary (MCS) and any of the physical outcomes. Conclusions Participation, daily-life activities, and the physical component of quality of life of adult Pompe patients are positively correlated to physical outcomes. This work serves as a first step towards assessing how changes over time in physical outcomes are related to changes in PROMs, and to define the minimal change in physical outcomes required to make an important difference for the patient.
Collapse
|
|
20
|
Meroño-Gallut AJ, Cuesta-Barriuso R, Pérez-Llanes R, Donoso-Úbeda E, López-Pina JA. Self-Myofascial Release Intervention and Mobile App in Patients With Hemophilic Ankle Arthropathy: Protocol for a Randomized Controlled Trial. JMIR Res Protoc 2020; 9:e15612. [PMID: 32734929 PMCID: PMC7428933 DOI: 10.2196/15612] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2019] [Revised: 11/04/2019] [Accepted: 04/28/2020] [Indexed: 12/14/2022] Open
Abstract
Background Hemophilic ankle arthropathy is manifested by degenerative functional alterations and chronic pain. Myofascial release techniques are used to treat soft tissue adhesions, relieve pain, and reduce tissue sensitivity. Objective This study aims to evaluate the safety and efficacy of a protocol using self-myofascial release with a foam roller to be applied in patients with hemophilic ankle arthropathy. Methods Patients with ankle arthropathy (N=70) will be recruited, enrolled, and assigned to one of two groups—experimental or control—in a 1:1 allocation ratio. Patients will be recruited from 5 centers in different regions of Spain. Patient data will be collected at baseline, posttreatment, and follow-up. The primary outcome will be frequency of ankle joint bleeding (self-reported). The secondary outcomes will be ankle range of motion (measured with a digital goniometer); joint pain (measured with a visual analog scale and an algometer); joint status (measured using the Hemophilia Joint Health Score); muscle strength (measured with a dynamometer); functionality of lower limbs (measured using the 6-minute walking test); activity (self-reported); and muscle flexibility (measured using the fingertip-to-floor test). The treatment program includes 11 exercises that must be administered bilaterally. A mobile app will be developed where each patient will be able to observe the exercises to be carried out. Each session will last 15 minutes with 5 physiotherapy sessions per week for a period of 3 months. It is expected that patients with hemophilia who receive the foam roller intervention will show improvement in mobility, pain, and status of the ankle joint; muscle strength; and function in the lower extremities. Results The study has been approved by the institutional review board of the University of Murcia. Patient recruitment will begin in September 2020, and the intervention period will last until June 2021. Data collection will take place between September 2020 and October 2021. Conclusions This protocol describes a randomized clinical trial to examine the safety and efficacy of a self-myofascial release intervention using a foam roller in patients with hemophilic ankle arthropathy. Trial Registration ClinicalTrials.gov NCT03914287; http://clinicaltrials.gov/ct2/show/NCT03914287. International Registered Report Identifier (IRRID) PRR1-10.2196/15612
Collapse
Affiliation(s)
| | - Rubén Cuesta-Barriuso
- Department of Physiotherapy, European University of Madrid, Madrid, Spain.,Fishemo CEE, Spanish Federation of Hemophilia (FEDHEMO), Madrid, Spain.,Real Fundación Victoria Eugenia, Madrid, Spain
| | - Raúl Pérez-Llanes
- Department of Physiotherapy, Catholic University San Antonio-UCAM, Murcia, Spain
| | | | | |
Collapse
|
|
21
|
Glanzman AM, Jones J, Thompson CZ, Pendergast EA, Beam M, Hughes AL, King M, Brandsema J, Horn B. Rehabilitation Following Fracture in Dystrophinopathy, A Case Series. J Neuromuscul Dis 2020; 7:343-354. [PMID: 32417791 DOI: 10.3233/jnd-200470] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
BACKGROUND Boys with dystrophinopathies (DMD) are at increased risk of low bone mineral density and fracture. Femoral fracture is the most common extremity fracture and is accompanied by significant risk of functional loss. Care considerations for DMD have stressed that aggressive management may be needed to maintain ambulation and that surgical fixation allows early mobilization. OBJECTIVES Describe 5 cases of femoral fracture in ambulatory boys with DMD and the course of care undertaken to optimize function. PATIENTS Five boys with DMD median age 15y (12-16) who were independently ambulatory. Median 10m walk speed prior to their first fracture was 8 sec (7-17.37) and 4 of 5 were less than the 9 seconds predictive of 2 year ambulation retention. Three of the cases had a single incident causing fracture; the remaining cases had 2 and 3 incidents respectively representing a total of 8 fractures 6 of which were surgically stabilized. RESULTS Following the first fracture, all 5 subjects regained some form of ambulation. Three patients regained independent ambulation and 2 with hand held support or contact guard. Two subjects went on to have additional falls with associated fracture. No patient regained the ability to rise from the floor and only one of the 5 regained the ability to climb steps and all demonstrated a decline in walking speed. CONCLUSION Prompt orthopedic intervention, early mobility, and intensive rehabilitation even in the end stage ambulatory patient, were factors in helping preserve function in these patients with dystrophinopathies.
Collapse
Affiliation(s)
- Allan M Glanzman
- Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA
| | - Jennifer Jones
- Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA
| | - Christina Z Thompson
- Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA
| | | | - Megan Beam
- Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA
| | - Amanda L Hughes
- Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia PA
| | - Michael King
- Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia PA.,Perelman School of Medicine at The University of Pennsylvania, Philadelphia PA
| | - John Brandsema
- Division of Neurology, Children's Hospital of Philadelphia, Philadelphia PA.,Perelman School of Medicine at The University of Pennsylvania, Philadelphia PA
| | - Bernard Horn
- Department of Orthopedics, Children's Hospital of Philadelphia, Philadelphia PA.,Perelman School of Medicine at The University of Pennsylvania, Philadelphia PA
| |
Collapse
|
|
22
|
Duruturk N, Özköslü MA. Effect of tele-rehabilitation on glucose control, exercise capacity, physical fitness, muscle strength and psychosocial status in patients with type 2 diabetes: A double blind randomized controlled trial. Prim Care Diabetes 2019; 13:542-548. [PMID: 31014938 DOI: 10.1016/j.pcd.2019.03.007] [Citation(s) in RCA: 37] [Impact Index Per Article: 6.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/14/2019] [Revised: 03/04/2019] [Accepted: 03/25/2019] [Indexed: 12/14/2022]
Abstract
AIM To determine the effect of a tele-rehabilitation (TR) program on glucose control, exercise capacity, physical fitness, muscle strength and psychosocial status in patients with type 2 diabetes mellitus (DM). METHOD Fifty type 2 DM participants were enrolled in the study and divided randomly into two groups; TR (n = 25, mean age: 52.82 ± 11.86) or control (n = 25, mean age: 53.04 ± 10.45) group. Participants in the TR group performed breathing and callisthenic exercises, three times a week, for 6 weeks, at home by internet based video conferences. Outcome measures including, HbA1c level, 6 min walk testing, physical fitness and muscle strength dynamometer measurement, Beck Depression Inventory were performed before and after the 6 weeks. RESULTS HbA1c (p = 0.00), 6 min walking distance (p = 0.00), physical fitness subparameters; sit-up (p = 0.00), sit-and-reach (p = 0.04), back scratch (p = 0.00), lateral flexion right (p = 0.04), left (p = 0.00) and time up go tests (p = 0.00), muscles strength (p = 0.00); deltoideus-anterior, middle, quadriceps femoris and gluteus maximus, and depression levels (p = 0.00) changed significantly (p = 0.00) in TR groups. There were no significant improvements in control group (p > 0.05). CONCLUSION Our findings suggest that TR interventions found to be safe and effective, and may be an alternative treatment model for type 2 DM management. In addition to these health benefits, patients and rehabilitation team may save time, labor and treatment costs by using TR.
Collapse
Affiliation(s)
- Neslihan Duruturk
- Baskent University, Faculty of Health Sciences, Department of Physical Therapy and Rehabilitation, Ankara, Turkey.
| | - Manolya Acar Özköslü
- Baskent University, Faculty of Health Sciences, Department of Physical Therapy and Rehabilitation, Ankara, Turkey
| |
Collapse
|
|
23
|
van Kooten HA, Harlaar L, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E. Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria. Neuromuscul Disord 2019; 30:59-66. [PMID: 31911071 DOI: 10.1016/j.nmd.2019.11.007] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2019] [Revised: 10/17/2019] [Accepted: 11/18/2019] [Indexed: 11/29/2022]
Abstract
Enzyme replacement therapy for Pompe disease received market authorization in 2006. To implement this costly treatment in the Netherlands in the most sensible way, a multidisciplinary expert committee was installed. We evaluated decision making in adult patients in relation to the European POmpe Consortium stop criteria. Of 125 adult Pompe patients, 111 started treatment; subsequently treatment stopped in 24 patients (21%). In 10 patients, treatment was discontinued for medical or personal reasons, as defined in the six stop criteria (median treatment duration: 2.1 years, range: 0.3-14.6 years). Three of these patients continued follow-up (follow-up: 1.3-8.0 years), these patients did not display a more rapid decline after discontinuation. In 14 of 24 patients, therapy ended at time of death. In 10 patients death was related to Pompe disease (median treatment duration: 7.2 years, range: 0.4-10.3 years). All 10 patients were severely affected at start of treatment, treatment had elicited positive effects in eight. The European POmpe Consortium guidelines worked well in decision making on stopping treatment. However, (re)evaluation of the rationale for continuation of treatment in advanced disease stage is not addressed. We suggest to add this to the treatment evaluation and to handle treatment decisions in a multidisciplinary expert team.
Collapse
Affiliation(s)
- H A van Kooten
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands
| | - L Harlaar
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands
| | - N A M E van der Beek
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands
| | - P A van Doorn
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands
| | - A T van der Ploeg
- Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands
| | - E Brusse
- Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
| | | |
Collapse
|
|
24
|
van Waart H, Buffart LM, Stuiver MM, van Harten WH, Sonke GS, Aaronson NK. Adherence to and satisfaction with low-intensity physical activity and supervised moderate-high intensity exercise during chemotherapy for breast cancer. Support Care Cancer 2019; 28:2115-2126. [PMID: 31396745 DOI: 10.1007/s00520-019-05019-1] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2019] [Accepted: 07/30/2019] [Indexed: 01/25/2023]
Abstract
PURPOSE In this study, we investigated factors associated with program adherence and patient satisfaction with a home-based physical activity program (Onco-Move, N = 77) and a supervised exercise program with a home-based component (OnTrack, N = 76). METHODS We assessed adherence via self-report (home-based program) and attendance records (supervised program). We used logistic regression analysis to identify sociodemographic, clinical and behavioural variables associated with program adherence. Patient satisfaction was assessed with self-report and is reported descriptively. RESULTS Fifty-one percent of Onco-Move and 62% of OnTrack participants were adherent to the home-based program, while 59% of OnTrack participants were adherent to the supervised sessions. Higher baseline physical fitness was associated with higher adherence to home-based components. Higher disease stage and having a partner were associated with adherence to OnTrack supervised sessions. Overall satisfaction with the exercise programs was high, but ratings of coaching provided by professionals for the home-based components were low. Patients offered suggestions for improving delivery of the programs. CONCLUSIONS These findings point to factors relevant to program adherence and suggest ways in which such programs can be improved. Providing additional time and training for health care professionals could improve the quality and hopefully the effectiveness of the interventions. The use of online diaries and smartphone apps may provide additional encouragement to participants. Finally, allowing greater flexibility in the planning and availability of supervised exercise training in order to accommodate the variability in cancer treatment schedules and the (acute) side effects of the treatments could also enhance program adherence. TRIAL REGISTRATION Netherlands Trial Register, NTR2159. http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=2159.
Collapse
Affiliation(s)
- Hanna van Waart
- Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands
| | - Laurien M Buffart
- Departments of Epidemiology and Biostatistics and Medical Oncology, the Amsterdam Pubic Health research institute and Cancer Center, Amsterdam University Medical Centers, Amsterdam, The Netherlands.,Exercise Medicine Research Institute, Edith Cowan University, Joondalup, Australia
| | - Martijn M Stuiver
- Center for Quality of Life, The Netherlands Cancer Institute, Amsterdam, The Netherlands.,ACHIEVE Center for Applied Research, Faculty of Health, Amsterdam University of Applied Science, Amsterdam, The Netherlands
| | - Wim H van Harten
- Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.,Department of Health Technology and Services Research, University of Twente, Enschede, The Netherlands
| | - Gabe S Sonke
- Department of Medical Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
| | - Neil K Aaronson
- Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.
| |
Collapse
|
|
25
|
Alvarenga G, Kiyomoto HD, Martinez EC, Polesello G, Alves VLDS. NORMATIVE ISOMETRIC HIP MUSCLE FORCE VALUES ASSESSED BY A MANUAL DYNAMOMETER. ACTA ORTOPEDICA BRASILEIRA 2019; 27:124-128. [PMID: 30988661 PMCID: PMC6442714 DOI: 10.1590/1413-785220192702202596] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
Abstract
Objective: Hand-held dynamometry is a quantitative and accessible means of determining the isometric force of muscle groups. Methods: A total of 52 women aged 20–29 years with no complaints of hip pain who were sedentary or sporadically active and had a body mass index of 18.5–24.99 kg/m2 were included. All participants underwent bilateral assessments using hand-held dynamometry of the flexor, extensor, adductor, and abductor muscles as well as the internal and external rotator hip muscles. All hip movements were measured. All contraction data collected by the dynamometer are expressed in kilograms, normalized according to body weight, and expressed as percentages. Results: The flexor muscles exhibited an isometric muscle force of 38.54% of body weight versus a muscle force of 27.04% for the extensor muscles, 16.89% for the adductors, 16.85% for the abductors, and 17.09% for the external rotators, and 23.82% for the internal rotators. Conclusion: Standardization of isometric strength values according to body weight proved feasible. This result is important for clinical practice since it allows the establishment of patterns of normality and criteria for discharge, return to sports, or assessment of the impact of injuries in terms of loss of muscle strength. Level of evidence: III, Development of diagnostic criteria on consecutive patients (with universally applied reference “gold” standard).
Collapse
Affiliation(s)
| | | | | | - Giancarlo Polesello
- Irmandade da Santa Casa de Misericórdia de São Paulo, Brazil; Irmandade da Santa Casa de Misericórdia de São Paulo, Brazil; Universidade de Mogi das Cruzes, Brazil
| | - Vera Lúcia dos Santos Alves
- Irmandade da Santa Casa de Misericórdia de São Paulo, Brazil; Irmandade da Santa Casa de Misericórdia de São Paulo, Brazil; Universidade de Mogi das Cruzes, Brazil
| |
Collapse
|
|
26
|
Klaver-Krol E, Rasker J, Klaver M, Ten Klooster P, Zwarts M. Fibromyalgia: Increased reactivity of the muscle membrane and a role of central regulation. Clin Neurophysiol 2019; 130:12-19. [DOI: 10.1016/j.clinph.2018.09.030] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2018] [Revised: 09/03/2018] [Accepted: 09/30/2018] [Indexed: 11/16/2022]
|
|
27
|
Eisenga MF, Gomes-Neto AW, van Londen M, Ziengs AL, Douwes RM, Stam SP, Osté MCJ, Knobbe TJ, Hessels NR, Buunk AM, Annema C, Siebelink MJ, Racz E, Spikman JM, Bodewes FAJA, Pol RA, Berger SP, Drost G, Porte RJ, Leuvenink HGD, Damman K, Verschuuren EAM, de Meijer VE, Blokzijl H, Bakker SJL. Rationale and design of TransplantLines: a prospective cohort study and biobank of solid organ transplant recipients. BMJ Open 2018; 8:e024502. [PMID: 30598488 PMCID: PMC6318532 DOI: 10.1136/bmjopen-2018-024502] [Citation(s) in RCA: 92] [Impact Index Per Article: 13.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/26/2022] Open
Abstract
INTRODUCTION In the past decades, short-term results after solid organ transplantation have markedly improved. Disappointingly, this has not been accompanied by parallel improvements in long-term outcomes after transplantation. To improve graft and recipient outcomes, identification of potentially modifiable risk factors and development of biomarkers are required. We provide the rationale and design of a large prospective cohort study of solid organ transplant recipients (TransplantLines). METHODS AND ANALYSIS TransplantLines is designed as a single-centre, prospective cohort study and biobank including all different types of solid organ transplant recipients as well as living organ donors. Data will be collected from transplant candidates before transplantation, during transplantation, at 3 months, 6 months, 1 year, 2 years and 5 years, and subsequently every 5 years after transplantation. Data from living organ donors will be collected before donation, during donation, at 3 months, 1 year and 5 years after donation, and subsequently every 5 years. The primary outcomes are mortality and graft failure. The secondary outcomes will be cause-specific mortality, cause-specific graft failure and rejection. The tertiary outcomes will be other health problems, including diabetes, obesity, hypertension, hypercholesterolaemia and cardiovascular disease, and disturbances that relate to quality of life, that is, physical and psychological functioning, including quality of sleep, and neurological problems such as tremor and polyneuropathy. ETHICS AND DISSEMINATION Ethical approval has been obtained from the relevant local ethics committee. The TransplantLines cohort study is designed to deliver pioneering insights into transplantation and donation outcomes. The study design allows comprehensive data collection on perioperative care, nutrition, social and psychological functioning, and biochemical parameters. This may provide a rationale for future intervention strategies to more individualised, patient-centred transplant care and individualisation of treatment. TRIAL REGISTRATION NUMBER NCT03272841.
Collapse
Affiliation(s)
- Michele F Eisenga
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Antonio W Gomes-Neto
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Marco van Londen
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Aaltje L Ziengs
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
- Department of Neuropsychology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Rianne M Douwes
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Suzanne P Stam
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Maryse C J Osté
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Tim J Knobbe
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Niek R Hessels
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Anne M Buunk
- Department of Neuropsychology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Coby Annema
- Groningen Transplant Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Marion J Siebelink
- Groningen Transplant Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Emoke Racz
- Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Jacoba M Spikman
- Department of Neuropsychology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Frank A J A Bodewes
- Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Robert A Pol
- Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Stefan P Berger
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Gea Drost
- Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Robert J Porte
- Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Henri G D Leuvenink
- Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Kevin Damman
- Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Erik A M Verschuuren
- Department of Pulmonary Diseases and Tuberculosis, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Vincent E de Meijer
- Department of Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Hans Blokzijl
- Department of Gastroenterology and Hepatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| | - Stephan J L Bakker
- Division of Nephrology, Department of Internal Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
| |
Collapse
|
|
28
|
Kuperus E, van der Meijden JC, in ’t Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP. The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease. PLoS One 2018; 13:e0208854. [PMID: 30532252 PMCID: PMC6285976 DOI: 10.1371/journal.pone.0208854] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/12/2018] [Accepted: 11/23/2018] [Indexed: 12/16/2022] Open
Abstract
The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in combination with a fully deleterious GAA variant on the second allele. The phenotypic spectrum of this patient group is exceptionally broad, with symptom onset ranging from early infancy to late adulthood. In addition, the response to enzyme replacement therapy (ERT) varies between patients. The insertion/deletion (I/D) polymorphism of the angiotensin I-converting enzyme (ACE) has been suggested to be a modifier of disease onset and/or response to ERT. Here, we have investigated the effect of the ACE I/D polymorphism in a relatively large cohort of 131 children and adults with Pompe disease, of whom 112 were followed during treatment with ERT for 5 years. We assessed the use of wheelchair and mechanical ventilation, muscle strength assessed via manual muscle testing and hand-held dynamometry (HHD), distance walked on the six-minute walk test (6MWT), forced vital capacity (FVC) in sitting and supine position and daily-life activities assessed by R-PAct. Cross sectional analysis at first visit showed no differences between the genotypes with respect to age at first symptoms, diagnosis, wheelchair use, or ventilator use. Also response to ERT over 5 years assessed by linear mixed model analyses showed no significant differences between ACE groups for any of the outcome measures. The patient cohort contained 24 families with 54 siblings. Differences in ACE genotype could neither explain inter nor intra familial differences. We conclude that the ACE I/D polymorphism does not explain the large variation in disease severity and response to ERT observed among Pompe patients with the same c.-32-13T>G GAA variant.
Collapse
Affiliation(s)
- Esther Kuperus
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Jan C. van der Meijden
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Stijn L. M. in ’t Groen
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Marian A. Kroos
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Marianne Hoogeveen-Westerveld
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Dimitris Rizopoulos
- Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Monica Yasmin Nino Martinez
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Michelle E. Kruijshaar
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Pieter A. van Doorn
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Nadine A. M. E. van der Beek
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- * E-mail: (WP); (NvdB)
| | - Ans T. van der Ploeg
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - W. W. M. Pim Pijnappel
- Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
- * E-mail: (WP); (NvdB)
| |
Collapse
|
|
29
|
Favejee MM, van der Meijden JC, Kruijshaar ME, Rizopoulos D, van der Ploeg AT, Bussmann JBJ. Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease. Phys Ther 2018; 98:925-931. [PMID: 30265367 PMCID: PMC6328012 DOI: 10.1093/ptj/pzy090] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/08/2017] [Accepted: 05/23/2018] [Indexed: 11/12/2022]
Abstract
BACKGROUND The loss of the ability to walk is among the most prominent signs of Pompe disease. The associations with muscle strength have not been described. OBJECTIVE The objective of this study was to estimate the associations of walking performance with muscle strength in 4 specific lower extremity muscle groups along with other factors in adult patients with Pompe disease. DESIGN This was a single-center, cross-sectional study. METHODS Muscle strength (hand-held dynamometry of hip flexion and abduction and knee extension and flexion) and walking performance (unable to walk, able with aids, walking without aids but with a waddling gait, or walking without aids and with a normal gait) were assessed in 107 patients at their first visit. Relationships between walking performance and muscle strength were studied through multivariate analyses and regression modeling. Age, sex, body mass index (BMI), disease duration, and use of ventilator support were taken into account as potential confounders. The results were transformed into a nomogram to allow the probability of a patient having a certain level of walking performance to be calculated based on the values of the independent variables. RESULTS Walking performance declined significantly with decreasing muscle strength of hip flexion and abduction and knee extension and flexion. The final selected model, including strength of the hip abductor and knee extensor, BMI, age, sex, and use of ventilation, predicted 66% of the cases accurately. LIMITATIONS These results are based on cross-sectional data and do not predict future changes. CONCLUSIONS In adult people with Pompe disease, walking performance can be explained by muscle strength, BMI, age, sex, and ventilation use. The proposed model gives insight into how an individual is expected to walk based on his or her risk factors and serves as a starting point to unraveling factors associated with walking performance and ultimately to developing a prognostic model.
Collapse
Affiliation(s)
- Marein M Favejee
- Department of Paediatrics, Center for Lysosomal and Metabolic Diseases, and Department of Rehabilitation Medicine & Physical Therapy, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Jan C van der Meijden
- Department of Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Michelle E Kruijshaar
- Department of Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Dimitris Rizopoulos
- Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
| | - Ans T van der Ploeg
- Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine & Physical Therapy, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands,Address all correspondence to Prof van der Ploeg at:
| | - Johannes B J Bussmann
- Department of Rehabilitation Medicine & Physical Therapy, Erasmus, MC University Medical Center
| |
Collapse
|
|
30
|
Whole-Body Vibration Training Designed to Improve Functional Impairments After Pediatric Inpatient Anticancer Therapy: A Pilot Study. Pediatr Phys Ther 2018; 30:341-349. [PMID: 30277971 DOI: 10.1097/pep.0000000000000536] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
Abstract
PURPOSE To assess a whole-body vibration (WBV) intervention for children after cancer treatment. METHODS Eleven children after inpatient anticancer therapy participated in a 12-week supervised WBV intervention, which consisted of one 9- to 13-minute WBV session per week, with 5 to 9 minutes' overall vibration time. Feasibility was defined as the ability to participate in WBV training without reporting adverse events. The number of offered and completed training sessions, program acceptance, and measures of function were assessed. RESULTS Nine participants completed the WBV intervention without any WBV-related adverse events. The adherence rate was 87.96%. Only minor side effects were reported and there was general program acceptance. We found indications that WBV has positive effects on knee extensor strength and active ankle dorsiflexion range of motion. CONCLUSIONS WBV was feasible, safe, and well received among children after inpatient anticancer therapy. No health deteriorations were observed. Positive effects need to be confirmed in future trials.
Collapse
|
|
31
|
Baschung Pfister P, de Bruin ED, Sterkele I, Maurer B, de Bie RA, Knols RH. Manual muscle testing and hand-held dynamometry in people with inflammatory myopathy: An intra- and interrater reliability and validity study. PLoS One 2018; 13:e0194531. [PMID: 29596450 PMCID: PMC5875759 DOI: 10.1371/journal.pone.0194531] [Citation(s) in RCA: 57] [Impact Index Per Article: 8.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2017] [Accepted: 03/05/2018] [Indexed: 11/19/2022] Open
Abstract
Manual muscle testing (MMT) and hand-held dynamometry (HHD) are commonly used in people with inflammatory myopathy (IM), but their clinimetric properties have not yet been sufficiently studied. To evaluate the reliability and validity of MMT and HHD, maximum isometric strength was measured in eight muscle groups across three measurement events. To evaluate reliability of HHD, intra-class correlation coefficients (ICC), the standard error of measurements (SEM) and smallest detectable changes (SDC) were calculated. To measure reliability of MMT linear Cohen`s Kappa was computed for single muscle groups and ICC for total score. Additionally, correlations between MMT8 and HHD were evaluated with Spearman Correlation Coefficients. Fifty people with myositis (56±14 years, 76% female) were included in the study. Intra-and interrater reliability of HHD yielded excellent ICCs (0.75–0.97) for all muscle groups, except for interrater reliability of ankle extension (0.61). The corresponding SEMs% ranged from 8 to 28% and the SDCs% from 23 to 65%. MMT8 total score revealed excellent intra-and interrater reliability (ICC>0.9). Intrarater reliability of single muscle groups was substantial for shoulder and hip abduction, elbow and neck flexion, and hip extension (0.64–0.69); moderate for wrist (0.53) and knee extension (0.49) and fair for ankle extension (0.35). Interrater reliability was moderate for neck flexion (0.54) and hip abduction (0.44); fair for shoulder abduction, elbow flexion, wrist and ankle extension (0.20–0.33); and slight for knee extension (0.08). Correlations between the two tests were low for wrist, knee, ankle, and hip extension; moderate for elbow flexion, neck flexion and hip abduction; and good for shoulder abduction. In conclusion, the MMT8 total score is a reliable assessment to consider general muscle weakness in people with myositis but not for single muscle groups. In contrast, our results confirm that HHD can be recommended to evaluate strength of single muscle groups.
Collapse
Affiliation(s)
- Pierrette Baschung Pfister
- Directorate of Research and Education, Physiotherapy Occupational Therapy Research Center, University Hospital Zurich, Zurich, Switzerland
- Department of Health, Institute of Physiotherapy, Zurich University of Applied Sciences, Winterthur, Switzerland
- Functioning and Rehabilitation, CAPHRI Care and Public Health Research Institute, Maastricht University, 6200 MD Maastricht, The Netherlands
| | - Eling D. de Bruin
- Department of Health Sciences and Technology, Institute of Human Movement Sciences and Sport, ETH Zurich, Zurich, Switzerland
- Division of Physiotherapy, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, SE141 83 Huddinge, Sweden
- * E-mail:
| | - Iris Sterkele
- Nursing and Allied Health Professions Office, Physiotherapy Occupational Therapy, University Hospital Zurich, Zurich, Switzerland
| | - Britta Maurer
- Department of Rheumatology, University Hospital Zurich, Zurich, Switzerland
| | - Rob A. de Bie
- Department of Epidemiology, CAPHRI Care and Public Health Research Institute, Maastricht University, 6200 MD Maastricht, The Netherlands
| | - Ruud H. Knols
- Directorate of Research and Education, Physiotherapy Occupational Therapy Research Center, University Hospital Zurich, Zurich, Switzerland
| |
Collapse
|
|
32
|
Recruitment to and pilot results of the PACES randomized trial of physical exercise during adjuvant chemotherapy for colon cancer. Int J Colorectal Dis 2018; 33:29-40. [PMID: 29124329 DOI: 10.1007/s00384-017-2921-6] [Citation(s) in RCA: 25] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 10/15/2017] [Indexed: 02/04/2023]
Abstract
PURPOSE We report the recruitment rate, reasons for and factors influencing non-participation, and descriptive results of a randomized controlled trial of two different exercise programs for patients with colon cancer undergoing adjuvant chemotherapy. METHODS Participants were randomized to a low-intensity, home-based program (Onco-Move), a moderate- to high-intensity, combined supervised resistance and aerobic exercise program (OnTrack), or Usual Care. Non-participants provided reasons for non-participation and were asked to complete a questionnaire assessing behavioral and attitudinal variables. Trial participants completed performance-based and self-reported outcome measures prior to randomization, at the end of chemotherapy, and at the 6-month follow-up. RESULTS Twenty-three of 63 referred patients agreed to participate in the trial. All 40 non-participants provided reasons for non-participation. Forty-five percent of the non-participants completed the questionnaire. Those who did not want to exercise had higher fatigue scores at baseline and a more negative attitude toward exercise. Compliance to both programs was high and no adverse events occurred. On average, the colon cancer participants were able to maintain or improve their physical fitness levels and maintain or decrease their fatigue levels during chemotherapy and follow-up. CONCLUSIONS Recruitment of patients with colon cancer to a physical exercise trial during adjuvant chemotherapy proved to be difficult, underscoring the need to develop more effective strategies to increase participation rates. Both home-based and supervised programs are safe and feasible in patients with colon cancer undergoing chemotherapy. Effectiveness needs to be established in a larger trial. TRIAL REGISTRATION Netherlands Trial Register - NTR2159.
Collapse
|
|
33
|
Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, Rizopoulos D, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME. Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study. Neurology 2017; 89:2365-2373. [PMID: 29117951 DOI: 10.1212/wnl.0000000000004711] [Citation(s) in RCA: 95] [Impact Index Per Article: 11.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/29/2017] [Accepted: 09/18/2017] [Indexed: 11/15/2022] Open
Abstract
OBJECTIVE To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease. METHODS We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements. RESULTS Median follow-up duration was 6.1 years (range 0.4-7.9 years), of which 5.0 years (range 0.2-7.3 years) were during ERT. Treated patients had better muscle strength (MRC sum score +6.6 percentage points [pp]; HHD sum score +9.6 pp, both p < 0.0001), activity levels (R-PAct +10.8 pp, p < 0.002), and pulmonary function (FVC upright +7.3 pp, FVC supine +7.6 pp, both p < 0.0003) than expected for their untreated disease course. Walking distance improved (416 vs 376 m at baseline, p = 0.03). The largest increase was seen during the first 2 to 3 years of treatment. Response to treatment was similar between groups regardless of sex, age, or disease duration. CONCLUSIONS Long-term ERT positively affects muscle strength, pulmonary function, and daily life activities in adult patients with Pompe disease, with a peak effect at ≈2 to 3 years of treatment. CLASSIFICATION OF EVIDENCE This study provides Class IV evidence that for patients with Pompe disease, long-term ERT positively affects muscle strength, pulmonary function, and daily life activities.
Collapse
Affiliation(s)
- Esther Kuperus
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Michelle E Kruijshaar
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Stephan C A Wens
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Juna M de Vries
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Marein M Favejee
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Jan C van der Meijden
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Dimitris Rizopoulos
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Esther Brusse
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Pieter A van Doorn
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Ans T van der Ploeg
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands
| | - Nadine A M E van der Beek
- From the Erasmus MC University Medical Center (E.K., S.C.A.W., J.M.d.V., E.B., P.A.v.D., N.A.M.E.v.d.B.), Center for Lysosomal and Metabolic Diseases, Department of Neurology; Erasmus MC University Medical Center-Sophia Children's Hospital (M.E.K., J.C.v.d.M., A.T.v.d.P.), Center for Lysosomal and Metabolic Diseases, Department of Pediatrics; Erasmus MC University Medical Center (M.M.F.), Center for Lysosomal and Metabolic Diseases, Department of Rehabilitation Medicine and Physical Therapy; and Erasmus MC University Medical Center (D.R.), Department of Biostatistics, Rotterdam, the Netherlands.
| |
Collapse
|
|
34
|
Steen U, Wekre LL, Vøllestad NK. Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study. Disabil Rehabil 2017; 40:2767-2779. [DOI: 10.1080/09638288.2017.1357211] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/11/2023]
Affiliation(s)
- Unni Steen
- TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesoddtangen, Norway
| | - Lena Lande Wekre
- Norwegian National Advisory Unit on Rare Disorders, NKSD, Oslo University Hospital, Oslo, Norway
| | | |
Collapse
|
|
35
|
McKay MJ, Baldwin JN, Ferreira P, Simic M, Vanicek N, Burns J. Normative reference values for strength and flexibility of 1,000 children and adults. Neurology 2016; 88:36-43. [PMID: 27881628 DOI: 10.1212/wnl.0000000000003466] [Citation(s) in RCA: 153] [Impact Index Per Article: 17.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/14/2016] [Accepted: 09/22/2016] [Indexed: 11/15/2022] Open
Abstract
OBJECTIVE To establish reference values for isometric strength of 12 muscle groups and flexibility of 13 joint movements in 1,000 children and adults and investigate the influence of demographic and anthropometric factors. METHODS A standardized reliable protocol of hand-held and fixed dynamometry for isometric strength of ankle, knee, hip, elbow, and shoulder musculature as well as goniometry for flexibility of the ankle, knee, hip, elbow, shoulder, and cervical spine was performed in an observational study investigating 1,000 healthy male and female participants aged 3-101 years. Correlation and multiple regression analyses were performed to identify factors independently associated with strength and flexibility of children, adolescents, adults, and older adults. RESULTS Normative reference values of 25 strength and flexibility measures were generated. Strong linear correlations between age and strength were identified in the first 2 decades of life. Muscle strength significantly decreased with age in older adults. Regression modeling identified increasing height as the most significant predictor of strength in children, higher body mass in adolescents, and male sex in adults and older adults. Joint flexibility gradually decreased with age, with little sex difference. Waist circumference was a significant predictor of variability in joint flexibility in adolescents, adults, and older adults. CONCLUSIONS Reference values and associated age- and sex-stratified z scores generated from this study can be used to determine the presence and extent of impairments associated with neuromuscular and other neurologic disorders, monitor disease progression over time in natural history studies, and evaluate the effect of new treatments in clinical trials.
Collapse
Affiliation(s)
- Marnee J McKay
- From the Faculty of Health Sciences (M.J.M., J.N.B., P.F., M.S., J.B.), University of Sydney, New South Wales, Australia; Department of Sport, Health and Exercise Science (N.V.), University of Hull, UK; and Sydney Children's Hospitals Network (Randwick and Westmead) and Paediatric Gait Analysis Service of New South Wales (J.B.), Children's Hospital at Westmead, Sydney, Australia.
| | - Jennifer N Baldwin
- From the Faculty of Health Sciences (M.J.M., J.N.B., P.F., M.S., J.B.), University of Sydney, New South Wales, Australia; Department of Sport, Health and Exercise Science (N.V.), University of Hull, UK; and Sydney Children's Hospitals Network (Randwick and Westmead) and Paediatric Gait Analysis Service of New South Wales (J.B.), Children's Hospital at Westmead, Sydney, Australia
| | - Paulo Ferreira
- From the Faculty of Health Sciences (M.J.M., J.N.B., P.F., M.S., J.B.), University of Sydney, New South Wales, Australia; Department of Sport, Health and Exercise Science (N.V.), University of Hull, UK; and Sydney Children's Hospitals Network (Randwick and Westmead) and Paediatric Gait Analysis Service of New South Wales (J.B.), Children's Hospital at Westmead, Sydney, Australia
| | - Milena Simic
- From the Faculty of Health Sciences (M.J.M., J.N.B., P.F., M.S., J.B.), University of Sydney, New South Wales, Australia; Department of Sport, Health and Exercise Science (N.V.), University of Hull, UK; and Sydney Children's Hospitals Network (Randwick and Westmead) and Paediatric Gait Analysis Service of New South Wales (J.B.), Children's Hospital at Westmead, Sydney, Australia
| | - Natalie Vanicek
- From the Faculty of Health Sciences (M.J.M., J.N.B., P.F., M.S., J.B.), University of Sydney, New South Wales, Australia; Department of Sport, Health and Exercise Science (N.V.), University of Hull, UK; and Sydney Children's Hospitals Network (Randwick and Westmead) and Paediatric Gait Analysis Service of New South Wales (J.B.), Children's Hospital at Westmead, Sydney, Australia
| | - Joshua Burns
- From the Faculty of Health Sciences (M.J.M., J.N.B., P.F., M.S., J.B.), University of Sydney, New South Wales, Australia; Department of Sport, Health and Exercise Science (N.V.), University of Hull, UK; and Sydney Children's Hospitals Network (Randwick and Westmead) and Paediatric Gait Analysis Service of New South Wales (J.B.), Children's Hospital at Westmead, Sydney, Australia
| | | |
Collapse
|
|
36
|
Castagnaro S, Pellegrini C, Pellegrini M, Chrisam M, Sabatelli P, Toni S, Grumati P, Ripamonti C, Pratelli L, Maraldi NM, Cocchi D, Righi V, Faldini C, Sandri M, Bonaldo P, Merlini L. Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial. Autophagy 2016; 12:2484-2495. [PMID: 27656840 PMCID: PMC5173266 DOI: 10.1080/15548627.2016.1231279] [Citation(s) in RCA: 41] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022] Open
Abstract
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in activating autophagy in skeletal muscle of patients affected by COL6/collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy are rare inherited muscle disorders caused by mutations of COL6 genes and for which no cure is yet available. Studies in col6 null mice revealed that myofiber degeneration involves autophagy defects and that forced activation of autophagy results in the amelioration of muscle pathology. Seven adult patients affected by COL6 myopathies underwent a controlled low-protein diet for 12 mo and we evaluated the presence of autophagosomes and the mRNA and protein levels for BECN1/Beclin 1 and MAP1LC3B/LC3B in muscle biopsies and blood leukocytes. Safety measures were assessed, including muscle strength, motor and respiratory function, and metabolic parameters. After one y of low-protein diet, autophagic markers were increased in skeletal muscle and blood leukocytes of patients. The treatment was safe as shown by preservation of lean:fat percentage of body composition, muscle strength and function. Moreover, the decreased incidence of myofiber apoptosis indicated benefits in muscle homeostasis, and the metabolic changes pointed at improved mitochondrial function. These data provide evidence that a low-protein diet is able to activate autophagy and is safe and tolerable in patients with COL6 myopathies, pointing at autophagy activation as a potential target for therapeutic applications. In addition, our findings indicate that blood leukocytes are a promising noninvasive tool for monitoring autophagy activation in patients.
Collapse
Affiliation(s)
- Silvia Castagnaro
- a Department of Molecular Medicine , University of Padova , Padova , Italy
| | - Camilla Pellegrini
- b Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute , Bologna , Italy
| | - Massimo Pellegrini
- c Department of Diagnostic , Clinical and Public Health Medicine, University of Modena and Reggio Emilia , Modena , Italy
| | - Martina Chrisam
- a Department of Molecular Medicine , University of Padova , Padova , Italy
| | - Patrizia Sabatelli
- b Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute , Bologna , Italy.,d Institute of Molecular Genetics, CNR National Research Council of Italy, Rizzoli Orthopedic Institute , Bologna , Italy
| | - Silvia Toni
- c Department of Diagnostic , Clinical and Public Health Medicine, University of Modena and Reggio Emilia , Modena , Italy
| | - Paolo Grumati
- e Institute of Biochemistry II, Goethe University School of Medicine , Frankfurt am Main , Germany
| | - Claudio Ripamonti
- f Department of Medicine and Rheumatology , University of Bologna , Bologna , Italy
| | - Loredana Pratelli
- g Clinical Pathology Unit, Rizzoli Orthopedic Institute , Bologna , Italy
| | - Nadir M Maraldi
- b Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute , Bologna , Italy.,d Institute of Molecular Genetics, CNR National Research Council of Italy, Rizzoli Orthopedic Institute , Bologna , Italy
| | - Daniela Cocchi
- h Department of Statistical Sciences , University of Bologna , Bologna , Italy
| | - Valeria Righi
- i Department of Life Quality Studies , Campus Rimini, University of Bologna , Bologna , Italy
| | - Cesare Faldini
- j Department of Orthopedics , University of Bologna , Bologna , Italy
| | - Marco Sandri
- k Department of Biomedical Sciences , University of Padova , Padova , Italy.,l Venetian Institute of Molecular Medicine , Padova , Italy
| | - Paolo Bonaldo
- a Department of Molecular Medicine , University of Padova , Padova , Italy.,m CRIBI Biotechnology Center, University of Padova , Padova , Italy
| | - Luciano Merlini
- b Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute , Bologna , Italy
| |
Collapse
|
|
37
|
Geertzen JHB, Dijkstra PU, Groothoff JW, ten Duis HJ, Eisma WH. Reflex sympathetic dystrophy of the upper extremity—a 5.5-year follow-up. ACTA ACUST UNITED AC 2016. [DOI: 10.1080/17453674.1998.11744781] [Citation(s) in RCA: 25] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
|
|
38
|
Lennon SM, Koblar S, Hughes R, Goeller J, Riser AC. Reasons for persistent disability in Guillain-Barre syndrome. Clin Rehabil 2016. [DOI: 10.1177/026921559300700101] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
The reasons for persistent disability in 10 Guillain-Barre syndrome patients were investigated. Patients were assessed between 11 and 35 months after disease onset with impairment, disability and handicap scales, a standard neurological examination and nerve conduction studies. All patients showed persistent limb weakness which affected independence in self-care in three patients and the pursuit of leisure and work activities in eight patients. The implications for clinical practice are discussed.
Collapse
Affiliation(s)
- SM Lennon
- Departments of Physiotherapy, Neurology and Occupational Therapy, Guy's Hospital, London
| | - S. Koblar
- Departments of Physiotherapy, Neurology and Occupational Therapy, Guy's Hospital, London
| | - Rac Hughes
- Departments of Physiotherapy, Neurology and Occupational Therapy, Guy's Hospital, London
| | - J. Goeller
- Departments of Physiotherapy, Neurology and Occupational Therapy, Guy's Hospital, London
| | - AC Riser
- Departments of Physiotherapy, Neurology and Occupational Therapy, Guy's Hospital, London
| |
Collapse
|
|
39
|
Lennon SM, Ashburn A. Use of myometry in the assessment of neuropathic weakness: testing for reliability in clinical practice. Clin Rehabil 2016. [DOI: 10.1177/026921559300700206] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
The myometer has been recommended as a quantitative method of measuring muscle strength in clinical practice. The reliability of the myometer was tested in a clinical environment by physiotherapists and a form incorporating the testing positions was designed. An intensive training programme for examiners was instigated and piloted on normal subjects. The study tested the reliability of paired examiners in recording the muscle strength of 20 Guillain-Barre syndrome patients at different stages in their recovery. Ten patients were tested in the first experiment. The error rate between observers was large and unacceptable. Procedures for improving reliability were implemented. Testing was repeated on 10 more patients but no improvement in reliability was observed. The implications for clinical practice are discussed.
Collapse
Affiliation(s)
- SM Lennon
- Department of Physiotherapy, Guy's Hospital, London
| | - A. Ashburn
- Department of Physiotherapy, Guy's Hospital, London
| |
Collapse
|
|
40
|
Colomer C, Llorens R, Noé E, Alcañiz M. Effect of a mixed reality-based intervention on arm, hand, and finger function on chronic stroke. J Neuroeng Rehabil 2016; 13:45. [PMID: 27169462 PMCID: PMC4864937 DOI: 10.1186/s12984-016-0153-6] [Citation(s) in RCA: 53] [Impact Index Per Article: 5.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/09/2015] [Accepted: 05/03/2016] [Indexed: 11/24/2022] Open
Abstract
Background Virtual and mixed reality systems have been suggested to promote motor recovery after stroke. Basing on the existing evidence on motor learning, we have developed a portable and low-cost mixed reality tabletop system that transforms a conventional table in a virtual environment for upper limb rehabilitation. The system allows intensive and customized training of a wide range of arm, hand, and finger movements and enables interaction with tangible objects, while providing audiovisual feedback of the participants’ performance in gamified tasks. This study evaluates the clinical effectiveness and the acceptance of an experimental intervention with the system in chronic stroke survivors. Methods Thirty individuals with stroke were included in a reversal (A-B-A) study. Phase A consisted of 30 sessions of conventional physical therapy. Phase B consisted of 30 training sessions with the experimental system. Both interventions involved flexion and extension of the elbow, wrist, and fingers, and grasping of different objects. Sessions were 45-min long and were administered three to five days a week. The body structures (Modified Ashworth Scale), functions (Motricity Index, Fugl-Meyer Assessment Scale), activities (Manual Function Test, Wolf Motor Function Test, Box and Blocks Test, Nine Hole Peg Test), and participation (Motor Activity Log) were assessed before and after each phase. Acceptance of the system was also assessed after phase B (System Usability Scale, Intrinsic Motivation Inventory). Results Significant improvement was detected after the intervention with the system in the activity, both in arm function measured by the Wolf Motor Function Test (p < 0.01) and finger dexterity measured by the Box and Blocks Test (p < 0.01) and the Nine Hole Peg Test (p < 0.01); and participation (p < 0.01), which was maintained to the end of the study. The experimental system was reported as highly usable, enjoyable, and motivating. Conclusions Our results support the clinical effectiveness of mixed reality interventions that satisfy the motor learning principles for upper limb rehabilitation in chronic stroke survivors. This characteristic, together with the low cost of the system, its portability, and its acceptance could promote the integration of these systems in the clinical practice as an alternative to more expensive systems, such as robotic instruments. Electronic supplementary material The online version of this article (doi:10.1186/s12984-016-0153-6) contains supplementary material, which is available to authorized users.
Collapse
Affiliation(s)
- Carolina Colomer
- Servicio de Neurorrehabilitación y Daño Cerebral de los Hospitales NISA. Fundación Hospitales NISA, Valencia, Spain
| | - Roberto Llorens
- Servicio de Neurorrehabilitación y Daño Cerebral de los Hospitales NISA. Fundación Hospitales NISA, Valencia, Spain. .,Instituto Interuniversitario de Investigación en Bioingeniería y Tecnología Orientada al Ser Humano, Universitat Politècnica de València, Camino de Vera s/n, Valencia, 46022, Spain.
| | - Enrique Noé
- Servicio de Neurorrehabilitación y Daño Cerebral de los Hospitales NISA. Fundación Hospitales NISA, Valencia, Spain
| | - Mariano Alcañiz
- Instituto Interuniversitario de Investigación en Bioingeniería y Tecnología Orientada al Ser Humano, Universitat Politècnica de València, Camino de Vera s/n, Valencia, 46022, Spain.,Ciber, Fisiopatología Obesidad y Nutrición, CB06/03 Instituto de Salud Carlos III, Av. Sos Baynat s/n, Univesity of Jaume I, Castellón, 12071, Spain
| |
Collapse
|
|
41
|
Verbeek RJ, Sentner CP, Smit GPA, Maurits NM, Derks TGJ, van der Hoeven JH, Sival DA. Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III. ULTRASOUND IN MEDICINE & BIOLOGY 2016; 42:133-142. [PMID: 26437929 DOI: 10.1016/j.ultrasmedbio.2015.08.013] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/22/2015] [Revised: 07/04/2015] [Accepted: 08/18/2015] [Indexed: 06/05/2023]
Abstract
In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with both "hepatic" and "myopathic" GSD phenotypes had elevated MUD values (MUD Z-scores: GSD-I > 2.5 SD vs. GSD-III > 1 SD, p < 0.05) and muscle weakness (GSD-I muscle force; p < 0.05) of myopathic distribution. In "hepatic" GSD-I adults, MUD stabilized (GSD-I adults vs. GSD-I children, not significant), concurring with moderate muscle weakness (GSD-I adults vs. healthy matched pairs, p < 0.05). In "myopathic" GSD-III adults, MUD increased with age (MUD-GSD III vs. age: r = 0.71-0.83, GSD-III adults > GSD-III children, p < 0.05), concurring with pronounced muscle weakness (GSD-III adults vs. GSD-I adults, p < 0.05) of myopathic distribution. Children with "hepatic" and "myopathic" GSD phenotypes were both found to have myopathy. Myopathy stabilizes in "hepatic" GSD-I adults, whereas it progresses in "myopathic" GSD-III adults. Muscle ultrasonography provides an excellent, non-invasive tool for neuromuscular surveillance per GSD phenotype.
Collapse
Affiliation(s)
- Renate J Verbeek
- Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
| | - Christiaan P Sentner
- Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
| | - G Peter A Smit
- Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
| | - Natasha M Maurits
- Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
| | - Terry G J Derks
- Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
| | - Johannes H van der Hoeven
- Department of Neurology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
| | - Deborah A Sival
- Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands.
| |
Collapse
|
|
42
|
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? Neuromuscul Disord 2015; 26:111-25. [PMID: 26810373 DOI: 10.1016/j.nmd.2015.11.012] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2015] [Revised: 11/27/2015] [Accepted: 11/29/2015] [Indexed: 12/20/2022]
Abstract
Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases. Despite improved diagnostics and pathomechanistic insight, a curative therapy is currently lacking for any of these diseases. Medical care consists of the symptomatic treatment of complications, aiming to improve life expectancy and quality of life. Besides well characterised pre-clinical tools like animal models and cell culture assays, the determinants of successful drug development programmes for rare diseases include a good understanding of the phenotype and natural history of the disease, the existence of clinically relevant outcome measures, guidance on care standards, up to date patient registries, and, ideally, biomarkers that can help assess disease severity or drug response. Strong patient organisations driving research and successful partnerships between academia, advocacy, industry and regulatory authorities can also help accelerate the elaboration of clinical trials. All these determinants constitute aspects of translational research efforts and influence patient access to therapies. Here we review the current status of determinants of successful drug development programmes for LGMD2, and the challenges of translating promising therapeutic strategies into effective and accessible treatments for patients.
Collapse
|
|
43
|
Arikan H, Yatar İ, Calik-Kutukcu E, Aribas Z, Saglam M, Vardar-Yagli N, Savci S, Inal-Ince D, Ozcelik U, Kiper N. A comparison of respiratory and peripheral muscle strength, functional exercise capacity, activities of daily living and physical fitness in patients with cystic fibrosis and healthy subjects. RESEARCH IN DEVELOPMENTAL DISABILITIES 2015; 45-46:147-156. [PMID: 26241869 DOI: 10.1016/j.ridd.2015.07.020] [Citation(s) in RCA: 48] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/01/2014] [Revised: 05/29/2015] [Accepted: 07/20/2015] [Indexed: 06/04/2023]
Abstract
There are limited reports that compare muscle strength, functional exercise capacity, activities of daily living (ADL) and parameters of physical fitness of cystic fibrosis (CF) patients with healthy peers in the literature. The purpose of this study was to assess and compare respiratory and peripheral muscle strength, functional exercise capacity, ADL and physical fitness in patients with CF and healthy subjects. Nineteen patients with CF (mean forced expiratory volume in one second-FEV1: 86.56±18.36%) and 20 healthy subjects were included in this study. Respiratory (maximal inspiratory pressure-MIP and maximal expiratory pressure-MEP) and peripheral muscle strength (quadriceps, shoulder abductors and hand grip strength) were evaluated. Functional exercise capacity was determined with 6min walk test (6MWT). ADL was assessed with Glittre ADL test and physical fitness was assessed with Munich fitness test (MFT). There were not any statistically significant difference in MIP, %MIP, MEP and %MEP values between two groups (p>0.05). %Peripheral muscle strength (% quadriceps and shoulder abductors strength), 6MWT distance and %6MWT distance were significantly lower in patients with CF than those of healthy subjects (p<0.05). Glittre ADL-test time was significantly longer in patients with CF than healthy subjects (p<0.05). According to Munich fitness test, the number of bouncing a ball, hanging score, distance of standing vertical jumping and standing vertical jumping score were significantly lower in patients with CF than those of healthy subjects (p<0.05). Peripheral muscle strength, functional exercise capacity, ADL performance and speed, coordination, endurance and power components of physical fitness are adversely affected in mild-severe patients with CF compared to healthy peers. Evaluations must be done in comprehensive manner in patients with CF with all stages.
Collapse
Affiliation(s)
- Hulya Arikan
- Hacettepe University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, 06100 Samanpazari, Ankara, Turkey
| | - İlker Yatar
- Dogu Akdeniz University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Gazimagusa, Cyprus
| | - Ebru Calik-Kutukcu
- Hacettepe University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, 06100 Samanpazari, Ankara, Turkey.
| | - Zeynep Aribas
- Gazi University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Besevler, Ankara, Turkey
| | - Melda Saglam
- Hacettepe University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, 06100 Samanpazari, Ankara, Turkey
| | - Naciye Vardar-Yagli
- Hacettepe University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, 06100 Samanpazari, Ankara, Turkey
| | - Sema Savci
- Dokuz Eylül University, School of Physiotherapy and Rehabilitation, 35340 Inciralti, Izmir, Turkey
| | - Deniz Inal-Ince
- Hacettepe University, Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, 06100 Samanpazari, Ankara, Turkey
| | - Ugur Ozcelik
- Hacettepe University, Faculty of Medicine, Department of Child Health and Diseases, Unit of Chest Diseases, 06230 Sihhiye, Ankara, Turkey
| | - Nural Kiper
- Hacettepe University, Faculty of Medicine, Department of Child Health and Diseases, Unit of Chest Diseases, 06230 Sihhiye, Ankara, Turkey
| |
Collapse
|
|
44
|
Cornett KMD, North KN, Rose KJ, Burns J. Muscle weakness in children with neurofibromatosis type 1. Dev Med Child Neurol 2015; 57:733-6. [PMID: 25913846 DOI: 10.1111/dmcn.12777] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 03/05/2015] [Indexed: 12/17/2022]
Abstract
AIM To investigate if children with neurofibromatosis type 1 (NF1) have reduced muscle strength compared with children with typical development. METHOD Maximal isometric strength of 15 upper and lower limb muscle groups was evaluated in 30 children with NF1 (16 males, 14 females; aged 4-16y) and 30 age-, sex-, height-, and weight-matched controls using hand-held dynamometry by a single evaluator. Both the left and right sides were assessed. RESULTS Children with NF1 were significantly weaker than children with typical development across all 15 muscle groups assessed (p<0.05). Apart from elbow flexion, there were no differences between the left and right sides (p>0.05). Magnitude of differences between the children with NF1 compared with the controls ranged from 3% to 43%. Males and females were equally affected. INTERPRETATION This study shows that children with NF1 have reduced muscle strength compared with children with typical development. This muscle weakness is present from the earliest stages of the disease assessed and persists throughout childhood with no sex difference. These results support recent evidence from mouse studies that NF1 is associated with a primary myopathy.
Collapse
Affiliation(s)
- Kayla M D Cornett
- Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.,Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Sydney, NSW, Australia
| | - Kathryn N North
- Murdoch Children's Research Institute, Melbourne, Vic., Australia.,Department of Paediatrics, Faculty of Medicine, University of Melbourne, Melbourne, Vic., Australia
| | - Kristy J Rose
- Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.,Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Sydney, NSW, Australia
| | - Joshua Burns
- Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.,Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Sydney, NSW, Australia.,Murdoch Children's Research Institute, Melbourne, Vic., Australia.,Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network (Randwick and Westmead), Sydney, NSW, Australia
| |
Collapse
|
|
45
|
Twisk FNM. Accurate diagnosis of myalgic encephalomyelitis and chronic fatigue syndrome based upon objective test methods for characteristic symptoms. World J Methodol 2015; 5:68-87. [PMID: 26140274 PMCID: PMC4482824 DOI: 10.5662/wjm.v5.i2.68] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/05/2014] [Revised: 02/10/2015] [Accepted: 05/27/2015] [Indexed: 02/06/2023] Open
Abstract
Although myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS) are considered to be synonymous, the definitional criteria for ME and CFS define two distinct, partially overlapping, clinical entities. ME, whether defined by the original criteria or by the recently proposed criteria, is not equivalent to CFS, let alone a severe variant of incapacitating chronic fatigue. Distinctive features of ME are: muscle weakness and easy muscle fatigability, cognitive impairment, circulatory deficits, a marked variability of the symptoms in presence and severity, but above all, post-exertional “malaise”: a (delayed) prolonged aggravation of symptoms after a minor exertion. In contrast, CFS is primarily defined by (unexplained) chronic fatigue, which should be accompanied by four out of a list of 8 symptoms, e.g., headaches. Due to the subjective nature of several symptoms of ME and CFS, researchers and clinicians have questioned the physiological origin of these symptoms and qualified ME and CFS as functional somatic syndromes. However, various characteristic symptoms, e.g., post-exertional “malaise” and muscle weakness, can be assessed objectively using well-accepted methods, e.g., cardiopulmonary exercise tests and cognitive tests. The objective measures acquired by these methods should be used to accurately diagnose patients, to evaluate the severity and impact of the illness objectively and to assess the positive and negative effects of proposed therapies impartially.
Collapse
|
|
46
|
van Waart H, Stuiver MM, van Harten WH, Geleijn E, Kieffer JM, Buffart LM, de Maaker-Berkhof M, Boven E, Schrama J, Geenen MM, Meerum Terwogt JM, van Bochove A, Lustig V, van den Heiligenberg SM, Smorenburg CH, Hellendoorn-van Vreeswijk JAJH, Sonke GS, Aaronson NK. Effect of Low-Intensity Physical Activity and Moderate- to High-Intensity Physical Exercise During Adjuvant Chemotherapy on Physical Fitness, Fatigue, and Chemotherapy Completion Rates: Results of the PACES Randomized Clinical Trial. J Clin Oncol 2015; 33:1918-27. [PMID: 25918291 DOI: 10.1200/jco.2014.59.1081] [Citation(s) in RCA: 442] [Impact Index Per Article: 44.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/17/2023] Open
Abstract
PURPOSE We evaluated the effectiveness of a low-intensity, home-based physical activity program (Onco-Move) and a moderate- to high-intensity, combined supervised resistance and aerobic exercise program (OnTrack) versus usual care (UC) in maintaining or enhancing physical fitness, minimizing fatigue, enhancing health-related quality of life, and optimizing chemotherapy completion rates in patients undergoing adjuvant chemotherapy for breast cancer. PATIENTS AND METHODS We randomly assigned patients who were scheduled to undergo adjuvant chemotherapy (N = 230) to Onco-Move, OnTrack, or UC. Performance-based and self-reported outcomes were assessed before random assignment, at the end of chemotherapy, and at the 6-month follow-up. We used generalized estimating equations to compare the groups over time. RESULTS Onco-Move and OnTrack resulted in less decline in cardiorespiratory fitness (P < .001), better physical functioning (P ≤ .001), less nausea and vomiting (P = .029 and .031, respectively) and less pain (P = .003 and .011, respectively) compared with UC. OnTrack also resulted in better outcomes for muscle strength (P = .002) and physical fatigue (P < .001). At the 6-month follow-up, most outcomes returned to baseline levels for all three groups. A smaller percentage of participants in OnTrack required chemotherapy dose adjustments than those in the UC or Onco-Move groups (P = .002). Both intervention groups returned earlier (P = .012), as well as for more hours per week (P = .014), to work than the control group. CONCLUSION A supervised, moderate- to high-intensity, combined resistance and aerobic exercise program is most effective for patients with breast cancer undergoing adjuvant chemotherapy. A home-based, low-intensity physical activity program represents a viable alternative for women who are unable or unwilling to follow the higher intensity program.
Collapse
Affiliation(s)
- Hanna van Waart
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Martijn M Stuiver
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Wim H van Harten
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Edwin Geleijn
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Jacobien M Kieffer
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Laurien M Buffart
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Marianne de Maaker-Berkhof
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Epie Boven
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Jolanda Schrama
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Maud M Geenen
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Jetske M Meerum Terwogt
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Aart van Bochove
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Vera Lustig
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Simone M van den Heiligenberg
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Carolien H Smorenburg
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Jeannette A J H Hellendoorn-van Vreeswijk
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Gabe S Sonke
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands
| | - Neil K Aaronson
- Hanna van Waart, Martijn M. Stuiver, Wim H. van Harten, Jacobien M. Kieffer, Marianne de Maaker-Berkhof, Gabe S. Sonke, Neil K. Aaronson, The Netherlands Cancer Institute; Edwin Geleijn, Laurien M. Buffart, and Epie Boven, VU University Medical Center; Laurien M. Buffart, EMGO Institute for Health and Care Research; Maud M. Geenen, Sint Lucas Andreas Hospital; Jetske M. Meerum Terwogt, Onze Lieve Vrouwe Gasthuis; Jeanette A.J.H. Hellendoom-van Vreeswijk, Comprehensive Cancer Centre of the Netherlands, Amsterdam; Jolanda Schrama, Spaarne Hospital, Hoofddorp; Aart van Bochove and Simone M. van den Heiligenberg, Esperanz, North Holland; Aart van Bochove, Zaans Medisch Centrum, Zaandam; Vera Lustig, Flevohospital, Almere; Simone M. van den Heiligenberg, Westfries Gasthuis, Hoorn; and Carolien H. Smorenburg, Medical Center Alkmaar, Alkmaar, the Netherlands.
| |
Collapse
|
|
47
|
Toni S, Morandi R, Busacchi M, Tardini L, Merlini L, Battistini NC, Pellegrini M. Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. Front Aging Neurosci 2014; 6:315. [PMID: 25477818 PMCID: PMC4235079 DOI: 10.3389/fnagi.2014.00315] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2014] [Accepted: 10/26/2014] [Indexed: 01/26/2023] Open
Abstract
Collagen VI mutations lead to disabling myopathies like Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (five female, three male, mean age 31 ± 9 years) in order to find a potential metabolic target for nutritional intervention. For this study, we used standard anthropometric tools, such as BMI evaluation and body circumference measurements. All results were compared to dual-energy X-ray absorptiometry (DXA), considered the “gold standard” method. Energy intake of each patient was evaluated through longitudinal methods (7-day food diary) while resting energy expenditure (REE) was predicted using specific equations and measured by indirect calorimetry. Clinical evaluation included general and nutritional blood and urine laboratory analyses and quantitative muscle strength measurement by hand-held dynamometry. BM and UCMD patients showed an altered body composition, characterized by low free fat mass (FFM) and high fat mass (FM), allowing us to classify them as sarcopenic, and all but one as sarcopenic-obese. Another main result was the negative correlation between REE/FFM ratio (basal energy expenditure per kilograms of fat-free mass) and the severity of the disease, as defined by the muscle megascore (correlation coefficient −0.955, P-value <0.001). We postulate that the increase of the REE/FFM ratio in relation to the severity of the disease may be due to an altered and pathophysiological loss of energetic efficiency at the expense of skeletal muscle. We show that a specific metabolic disequilibrium is related to the severity of the disease, which may represent a target for a nutritional intervention in these patients.
Collapse
Affiliation(s)
- Silvia Toni
- Laboratory of Nutrition and Lifestyle, Department of Diagnostic, Clinical and Public Health Medicine , Modena , Italy
| | - Riccardo Morandi
- Laboratory of Nutrition and Lifestyle, Department of Diagnostic, Clinical and Public Health Medicine , Modena , Italy
| | - Marcello Busacchi
- Laboratory of Nutrition and Lifestyle, Department of Diagnostic, Clinical and Public Health Medicine , Modena , Italy
| | - Lucia Tardini
- Laboratory of Nutrition and Lifestyle, Department of Diagnostic, Clinical and Public Health Medicine , Modena , Italy
| | - Luciano Merlini
- Laboratory of Musculoskeletal Cell Biology, Istituto Ortopedico Rizzoli , Bologna , Italy
| | - Nino Carlo Battistini
- Laboratory of Nutrition and Lifestyle, Department of Diagnostic, Clinical and Public Health Medicine , Modena , Italy
| | - Massimo Pellegrini
- Laboratory of Nutrition and Lifestyle, Department of Diagnostic, Clinical and Public Health Medicine , Modena , Italy
| |
Collapse
|
|
48
|
Merlini L, Vagheggini A, Cocchi D. Sarcopenia and sarcopenic obesity in patients with muscular dystrophy. Front Aging Neurosci 2014; 6:274. [PMID: 25339901 PMCID: PMC4188124 DOI: 10.3389/fnagi.2014.00274] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2014] [Accepted: 09/21/2014] [Indexed: 01/07/2023] Open
Abstract
Aging sarcopenia and muscular dystrophy (MD) are two conditions characterized by lower skeletal muscle quantity, lower muscle strength, and lower physical performance. Aging is associated with a peculiar alteration in body composition called “sarcopenic obesity” characterized by a decrease in lean body mass and increase in fat mass. To evaluate the presence of sarcopenia and obesity in a cohort of adult patients with MD, we have used the measurement techniques considered golden standard for sarcopenia that is for muscle mass dual-energy X-ray absorptiometry (DXA), for muscle strength hand-held dynamometry (HHD), and for physical performance gait speed. The study involved 14 adult patients with different types of MD. We were able to demonstrate that all patients were sarcopenic obese. We showed, in fact, that all were sarcopenic based on appendicular lean, fat and bone free, mass index (ALMI). In addition, all resulted obese according to the percentage of body fat determined by DXA in contrast to their body mass index ranging from underweight to obese. Skeletal muscle mass determined by DXA was markedly reduced in all patients and correlated with residual muscle strength determined by HHD, and physical performances determined by gait speed and respiratory function. Finally, we showed that ALMI was the best linear explicator of muscle strength and physical function. Altogether, our study suggests the relevance of a proper evaluation of body composition in MD and we propose to use, both in research and practice, the measurement techniques that has already been demonstrated effective in aging sarcopenia.
Collapse
Affiliation(s)
- Luciano Merlini
- Laboratory of Musculoskeletal Cell Biology, Istituto Ortopedico Rizzoli , Bologna , Italy
| | | | - Daniela Cocchi
- Department of Statistical Sciences, University of Bologna , Bologna , Italy
| |
Collapse
|
|
49
|
Tsai YJ, Su FC, Hsiao CK, Tu YK. Comparison of objective muscle strength in C5-C6 and C5-C7 brachial plexus injury patients after double nerve transfer. Microsurgery 2014; 35:107-14. [PMID: 24934721 DOI: 10.1002/micr.22283] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/26/2014] [Revised: 05/15/2014] [Accepted: 05/21/2014] [Indexed: 11/07/2022]
Abstract
PURPOSE The purpose of this study was to evaluate the quantitative muscle strength to distinguish the outcomes of different injury levels in upper arm type brachial plexus injury (BPI) patients with double nerve transfer. METHODS Nine patients with C5-C6 lesions (age = 32.2 ± 13.9 year old) and nine patients with C5-C7 lesions (age = 32.4 ± 7.9 year old) received neurotization of the spinal accessory nerve to the suprascapular nerve combined with the Oberlin procedure (fascicles of ulnar nerve transfer to the musculocutaneous nerve) were recruited. The average time interval between operation and evaluation were 27.3 ± 21.0 and 26.9 ± 20.6 months for C5-C6 and C5-C7, respectively. British Medical Research Council (BMRC) scores and the objective strength measured by a handheld dynamometer were evaluated in multiple muscles to compare outcomes between C5-C6 and C5-C7 injuries. RESULTS There were no significant differences in BMRC scores between the groups. C5-C6 BPI patients had greater quantitative strength in shoulder flexor (P = 0.02), shoulder extensor (P < 0.01), elbow flexor (P = 0.04), elbow extensor (P = 0.04), wrist extensor (P = 0.04), and hand grip (P = 0.04) than C5-C7 BPI patients. CONCLUSIONS Upper arm type BPI patients have a good motor recovery after double nerve transfer. The different outcomes between C5-C6 and C5-C7 BPI patients appeared in muscles responding to hand grip, wrist extension, and sagittal movements in shoulder and elbow joints.
Collapse
Affiliation(s)
- Yi-Jung Tsai
- Department of Biomedical Engineering, National Cheng Kung University, Tainan, Taiwan, Republic of China
| | | | | | | |
Collapse
|
|
50
|
Twisk FNM. The status of and future research into Myalgic Encephalomyelitis and Chronic Fatigue Syndrome: the need of accurate diagnosis, objective assessment, and acknowledging biological and clinical subgroups. Front Physiol 2014; 5:109. [PMID: 24734022 PMCID: PMC3974331 DOI: 10.3389/fphys.2014.00109] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2014] [Accepted: 03/04/2014] [Indexed: 12/26/2022] Open
Abstract
Although Myalgic Encephalomyelitis (ME) and Chronic Fatigue Syndrome (CFS) are used interchangeably, the diagnostic criteria define two distinct clinical entities. Cognitive impairment, (muscle) weakness, circulatory disturbances, marked variability of symptoms, and, above all, post-exertional malaise: a long-lasting increase of symptoms after a minor exertion, are distinctive symptoms of ME. This latter phenomenon separates ME, a neuro-immune illness, from chronic fatigue (syndrome), other disorders and deconditioning. The introduction of the label, but more importantly the diagnostic criteria for CFS have generated much confusion, mostly because chronic fatigue is a subjective and ambiguous notion. CFS was redefined in 1994 into unexplained (persistent or relapsing) chronic fatigue, accompanied by at least four out of eight symptoms, e.g., headaches and unrefreshing sleep. Most of the research into ME and/or CFS in the last decades was based upon the multivalent CFS criteria, which define a heterogeneous patient group. Due to the fact that fatigue and other symptoms are non-discriminative, subjective experiences, research has been hampered. Various authors have questioned the physiological nature of the symptoms and qualified ME/CFS as somatization. However, various typical symptoms can be assessed objectively using standardized methods. Despite subjective and unclear criteria and measures, research has observed specific abnormalities in ME/CFS repetitively, e.g., immunological abnormalities, oxidative and nitrosative stress, neurological anomalies, circulatory deficits and mitochondrial dysfunction. However, to improve future research standards and patient care, it is crucial that patients with post-exertional malaise (ME) and patients without this odd phenomenon are acknowledged as separate clinical entities that the diagnosis of ME and CFS in research and clinical practice is based upon accurate criteria and an objective assessment of characteristic symptoms, as much as possible that well-defined clinical and biological subgroups of ME and CFS patients are investigated in more detail, and that patients are monitored before, during and after interventions with objective measures and biomarkers.
Collapse
|