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Qian G, Zhang L, Zhao Z, Wang Y, Lu J, Bi N, Yang X, Xie W, Shi Z, Li T, Zhang Z, Song Z. Prevalence of scoliosis and congenital heart disease based on school screening in Jinghong City, Yunnan Province. Front Public Health 2025; 13:1517542. [PMID: 40071112 PMCID: PMC11893419 DOI: 10.3389/fpubh.2025.1517542] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2024] [Accepted: 02/11/2025] [Indexed: 03/14/2025] Open
Abstract
Objective To investigate the prevalence of scoliosis and congenital heart disease (CHD) in the same area and to explore the relationship between them according to a joint school screening. Methods All students aged 6-15 years in 20 schools in Jinghong City, Yunnan Province, China was screened for scoliosis and CHD. Scoliosis screening completed through the Adam's forward bending test with scoliometer measurement, and CHD screening completed through auscultation combined with portable echocardiography (ECHO). The gender, age, distribution of ethnic groups, types of CHD, angle of trunk rotation (ATR) and location of scoliosis were recorded. The severity was divided into 3 grades by ATR. Then the relationship between scoliosis and CHD was analyzed. Results A total of 17,134 students was screened with a prevalence of suspected scoliosis of 1.7% (298 students), and the prevalence of suspected scoliosis in female was higher than that in male (2.4 vs. 1.2%, P < 0.001), which increased with age (P < 0.01). The prevalence of suspected scoliosis was no different among ethnic groups (P > 0.05). The severity of scoliosis was mainly grade 1 (68.5%), followed by grade 2 (27.2%) and grade 3 (4.4%). And scoliosis was mainly located in lumbar (37.6%). The prevalence of CHD was 3.15‰, and there was no difference in the prevalence of CHD between different gender, age and ethnic groups (P > 0.05). The most common type of CHD was atrial septal defect (27.78%), followed by ventricular septal defect (16.67%). There was only one CHD student in 298 suspected scoliosis students. Conclusion The prevalence of suspected scoliosis among primary school students was 1.74%, while the prevalence of congenital heart disease was 3.15‰ in Jinghong City, Yunnan Province. And the incidence of CHD in patients with mild suspected scoliosis was low and close to that in normal population.
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Affiliation(s)
- Genghao Qian
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Li Zhang
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Zhi Zhao
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Yingsong Wang
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Jiang Lu
- Medical Department, Yunnan Fuwai Cardiovascular Disease Hospital, Kunming, China
| | - Ni Bi
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Xiaochen Yang
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Weijie Xie
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Zhiyue Shi
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Tao Li
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Zhaoquan Zhang
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
| | - Zhibo Song
- Orthopedics, Second Affiliated Hospital of Kunming Medical University, Kunming, China
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Dawu W, Kaiting L, Weiwei Y, Yuzhang T, Xiaohong L, Yong Z. Ultrasound measurement of abdominal and low back muscle symmetry in adult degenerative lumbar scoliosis: A case-control study. J Back Musculoskelet Rehabil 2025; 38:148-157. [PMID: 39970454 DOI: 10.1177/10538127241289365] [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] [Indexed: 02/21/2025]
Abstract
BACKGROUND Individuals with adult degenerative lumbar scoliosis (ADLS) have underlying biomechanical alterations along the trunk muscles. However, few studies have evaluated trunk muscles in ADLS. OBJECTIVE To quantify and evaluate the symmetry, thickness, and stiffness (shear modulus) of the abdominal and back muscles in ADLS participants. METHODS This was a case-control study with participants aged 60-79 years with ADLS (n = 37) and without ADLS (n = 37). Radiographic examination data were collected from the participants. Ultrasound thickness and shear modulus measurements were performed to compare differences in the rectus abdominis, external oblique, internal oblique, transversus abdominis (TrA), multifidus, erector spinae, and quadratus lumborum muscles in the supine, prone and standing positions in the ADLS (n = 37) and control groups (n = 37). Thicknesses and shear modulus were compared. RESULTS The absolute thickness of the TrA in ADLS group was significantly greater on the convex side than on the concave side in both the supine (2.978 ± 0.552 vs. 2.556 ± 0.513, p = 0.041) and standing positions (2.671 ± 0.475 vs. 2.054 ± 0.401, p = 0.034). The percentage changes in both sides of the shear modulus of the TrA were significantly greater in the ADLS group than in the control group for the supine position (p = 0.019), and standing position (p = 0.039). CONCLUSIONS Compared with those in the control group, only the absolute muscle thicknesses and percent change in the shear modulus of the TrA in the ADLS participants were more asymmetric.
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Affiliation(s)
- Wang Dawu
- Department of Rehabilitation Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
| | - Li Kaiting
- Department of Rehabilitation Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
| | - Yi Weiwei
- Department of Rehabilitation Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
| | - Tao Yuzhang
- Department of Rehabilitation Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
| | - Li Xiaohong
- Department of Rehabilitation Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
| | - Zhang Yong
- Department of Ultrasound, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
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Petrosyan E, Fares J, Ahuja CS, Lesniak MS, Koski TR, Dahdaleh NS, El Tecle NE. Genetics and pathogenesis of scoliosis. NORTH AMERICAN SPINE SOCIETY JOURNAL 2024; 20:100556. [PMID: 39399722 PMCID: PMC11470263 DOI: 10.1016/j.xnsj.2024.100556] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/23/2024] [Revised: 09/02/2024] [Accepted: 09/03/2024] [Indexed: 10/15/2024]
Abstract
Background Scoliosis is defined as a lateral spine curvature of at least 10° with vertebral rotation, as seen on a posterior-anterior radiograph, often accompanied by reduced thoracic kyphosis. Scoliosis affects all age groups: idiopathic scoliosis is the most common spinal disorder in children and adolescents, while adult degenerative scoliosis typically affects individuals over fifty. In the United States, approximately 3 million new cases of scoliosis are diagnosed annually, with a predicted increase in part due to global aging. Despite its prevalence, the etiopathogenesis of scoliosis remains unclear. Methods This comprehensive review analyzes the literature on the etiopathogenetic evidence for both idiopathic and adult degenerative scoliosis. PubMed and Google Scholar databases were searched for studies on the genetic factors and etiopathogenetic mechanisms of scoliosis development and progression, with the search limited to articles in English. Results For idiopathic scoliosis, genetic factors are categorized into three groups: genes associated with susceptibility, disease progression, and both. We identify gene groups related to different biological processes and explore multifaceted pathogenesis of idiopathic scoliosis, including evolutionary adaptations to bipedalism and developmental and homeostatic spinal aberrations. For adult degenerative scoliosis, we segregate genetic and pathogenic evidence into categories of angiogenesis and inflammation, extracellular matrix degradation, neural associations, and hormonal influences. Finally, we compare findings in idiopathic scoliosis and adult degenerative scoliosis, discuss current limitations in scoliosis research, propose a new model for scoliosis etiopathogenesis, and highlight promising areas for future studies. Conclusions Scoliosis is a complex, multifaceted disease with largely enigmatic origins and mechanisms of progression, keeping it under continuous scientific scrutiny.
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Affiliation(s)
- Edgar Petrosyan
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Jawad Fares
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Christopher S. Ahuja
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Maciej S. Lesniak
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Tyler R. Koski
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Nader S. Dahdaleh
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
| | - Najib E. El Tecle
- Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, United States
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Walters S, Barkham B, Bishop T, Bernard J, Coroyannakis C, Thilaganathan B, Lui DF. Fetal Scoliosis: Natural History and Outcomes. J Am Acad Orthop Surg Glob Res Rev 2024; 8:01979360-202406000-00002. [PMID: 38996079 PMCID: PMC11132347 DOI: 10.5435/jaaosglobal-d-24-00093] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2024] [Accepted: 03/22/2024] [Indexed: 07/14/2024]
Abstract
INTRODUCTION Scoliosis can be detected on prenatal ultrasonography and may be associated with structural and syndromic abnormalities. Associations and pregnancy outcomes related to the prenatal diagnosis of scoliosis are poorly understood. METHODS A retrospective cohort study was undertaken at a tertiary referral center in London. Referred cases with spinal deformities between 1997 and 2021 were identified from the prenatal ultrasonography database. Outcomes were ascertained from the database and electronic notes. RESULTS One hundred twenty-three cases of fetal spinal deformities (scoliosis, kyphosis, or kyphoscoliosis) were identified from a referral population of 660,000 pregnancies, giving an incidence of approximately 0.2 per 1000 fetuses. Fifty-eight live births (47.2%) and 65 cases (52.8%) of fetal or neonatal demise or termination were observed. Most live births were isolated spinal deformities with a good postnatal outcome (n = 35, 60.3%). The commonest syndromic diagnosis in this group was VACTERL association (n = 7, 12.1%). Most cases of fetal loss were associated with severe malformations, most commonly spina bifida, body stalk anomaly and amniotic band sequence, or chromosomal abnormalities, except in 2 cases (3.1%). CONCLUSIONS This is the largest reported cases series to date of prenatally diagnosed fetal spinal deformity. This confirms that fetal scoliosis and associated vertebral abnormalities are underdiagnosed prenatally, with the reported incidence (0.2 per 1000) lower than the recognized incidence of congenital scoliosis (1 in 1,000). The concurrent finding of severe malformations was strongly associated with fetal loss. When an isolated finding, most fetal spinal deformities had a good postnatal outcome, while 1:8 live births were diagnosed with VACTERL association.
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Affiliation(s)
- Samuel Walters
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
| | - Ben Barkham
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
| | - Tim Bishop
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
| | - Jason Bernard
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
| | - Christina Coroyannakis
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
| | - Basky Thilaganathan
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
| | - Darren F. Lui
- From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom
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Wang C, Guo X, Zhu H, Zou Y, Wu M, Meng Z. Analysis of the factors affecting the loss of correction effect in patients with congenital scoliosis after one stage posterior hemivertebrae resection and orthosis fusion. BMC Musculoskelet Disord 2023; 24:960. [PMID: 38082325 PMCID: PMC10712081 DOI: 10.1186/s12891-023-07060-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/29/2023] [Accepted: 11/24/2023] [Indexed: 12/18/2023] Open
Abstract
BACKGROUND To analyze the factors affecting the loss of correction effect in patients with congenital scoliosis after one stage posterior hemivertebra resection, orthosis, fusion and internal fixation. METHODS Thirty-nine patients with congenital scoliosis (CS) who underwent one-stage posterior hemivertebra resection, orthosis, fusion and internal fixation were retrospectively included in Hebei Children's Hospital General demographic information of patients was collected. Preoperative and postoperative imaging indicators were compared, Including cobb Angle of the main curvature of the spine, segmental Cobb Angle, compensatory cephalic curve, compensatory curve on the caudal side, segmental kyphosis, coronal balance, sagittal balance, thoracic kyphosis, lumbar lordosis, and apical vertebra translation. Correlation analysis is used to evaluate the factors affecting the loss of judgment and correction effect, and the correlation indicators are included in the multi-factor Logistics regression. RESULTS In terms of radiographic indicators in the coronal plane, compared to preoperative values, significant improvements were observed in postoperative Cobb Angle of main curve (8.00°±4.62° vs. 33.30°±9.86°), Segmental Cobb angle (11.87°±6.55° vs. 31.29°±10.03°), Compensatory cephalic curve (6.22°±6.33° vs. 14.75°±12.50°), Compensatory curve on the caudal side (5.58°±3.43° vs. 12.61°±8.72°), coronal balance (10.95 mm ± 8.65 mm vs. 13.52 mm ± 11.03 mm), and apical vertebra translation (5.96 mm ± 5.07 mm vs. 16.55 mm ± 8.39 mm) (all P < 0.05). In the sagittal plane, significant improvements were observed in Segmental kyposis Angle (7.60°±9.36° vs. 21.89°±14.62°, P < 0.05) as compared to preoperative values. At the last follow-up, Segmental kyphosis Angle (6.09°±9.75° vs. 21.89°±14.62°, P < 0.05), Thoracic kyphosis (26.57°±7.68° vs. 24.06°±10.49°, P < 0.05) and Lumbar lordosis (32.12°±13.15° vs. 27.84°±16.68°, P < 0.05) had statistical significance compared with the preoperative department. The correlation analysis showed that the correction effect of the main curve Cobb angle was correlated with fixed segment length (rs=-0.318, P = 0.048), postoperative segment Cobb angle (rs=-0.600, P < 0.001), preoperative apical vertebra translation (rs = 0.440, P = 0.005), and spinal cord malformation (rs=-0.437, P = 0.005). The correction effect of segmental kyphosis was correlated with age (rs = 0.388, P = 0.037). The results of the multivariate logistic regression analysis revealed that postoperative segmental Cobb angle > 10° (OR = 0.011, 95%CI:0.001-0.234, P = 0.004), associated spinal cord anomalies (OR = 24.369, 95%CI:1.057-561.793, P = 0.046), and preoperative apical translation > 10 mm (OR = 0.012, 95%CI:0.000-0.438, P = 0.016) were influential factors in the progression of the main curve Cobb angle. CONCLUSION The one-stage posterior hemivertebra resection and short-segment corrective fusion with internal fixation are effective means to treat congenital scoliosis. However, attention should be paid to the loss of correction and curve progression during follow-up. Patients with spinal cord malformation and a large preoperative apical vertebra translation have a greater risk of losing the correction after surgery.
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Affiliation(s)
- Chen Wang
- Department of Orthopedics, Children's Hospital of Hebei Province, No. 133 Jianhua South Street, Shijiazhuang City, Hebei Province, China
| | - Xuzhao Guo
- Department of Orthopedics, Children's Hospital of Hebei Province, No. 133 Jianhua South Street, Shijiazhuang City, Hebei Province, China
| | - Hua Zhu
- Department of Orthopedics, Children's Hospital of Hebei Province, No. 133 Jianhua South Street, Shijiazhuang City, Hebei Province, China
| | - Yan Zou
- Department of Orthopedics, Children's Hospital of Hebei Province, No. 133 Jianhua South Street, Shijiazhuang City, Hebei Province, China
| | - Ming Wu
- Department of Orthopedics, Children's Hospital of Hebei Province, No. 133 Jianhua South Street, Shijiazhuang City, Hebei Province, China
| | - Zhao Meng
- Department of Orthopedics, Children's Hospital of Hebei Province, No. 133 Jianhua South Street, Shijiazhuang City, Hebei Province, China.
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Lorente R, Mariscal G, Lorente A. Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2023; 32:3961-3969. [PMID: 37572143 DOI: 10.1007/s00586-023-07889-w] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/21/2023] [Revised: 08/04/2023] [Accepted: 08/05/2023] [Indexed: 08/14/2023]
Abstract
PURPOSE The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence. METHODS A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. RESULTS A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180). CONCLUSIONS The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.
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Affiliation(s)
- Rafael Lorente
- Department of Orthopedic Surgery and Traumatology, University Hospital of Badajoz, Badajoz, Spain
| | - Gonzalo Mariscal
- Institute for Research On Musculoskeletal Disorders, School of Medicine, Valencia Catholic University, Carrer de Quevedo, 2, 46001, Valencia, Spain.
| | - Alejandro Lorente
- Department of Traumatology and Orthopaedic Surgery, University Hospital Ramón Y Cajal, Madrid, Spain
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Lin G, Du Y, Wang S, Yang Y, Ye X, Zhao Y, Yu W, Li Z, Zhao S, Nan Wu, Zhuang Q, Shen J, Zhang J. Ten-year trends in surgical management of 1207 congenital scoliosis. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2023; 32:2533-2540. [PMID: 37160441 DOI: 10.1007/s00586-023-07685-6] [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: 09/09/2022] [Revised: 02/20/2023] [Accepted: 03/25/2023] [Indexed: 05/11/2023]
Abstract
PURPOSE To report and analyze development trends in the surgical treatment of congenital scoliosis (CS) in a large CS cohort over a 10-year period. METHODS We retrospectively searched and extracted medical records of CS inpatients receiving posterior instrumented fusion surgery at our institute from January 2010 to December 2019. We analyzed information on demographics and surgical information, including the surgical approach, number of fused segments, use of osteotomy and titanium cage implantation, length of stay, intraoperative blood loss, and rates of complications and readmission. RESULTS 1207 CS inpatients were included. In the past decade, the proportion of patients younger than 5 years increased from 15.5 to 26.9%. The average number of fused segments decreased from 9.24 to 7.48, and the proportion of patients treated with short-segment fusion increased from 13.4 to 30.3%. The proportion of patients treated with osteotomy and titanium cage implantation increased from 55.65% and 12.03% to 76.5% and 40.22%. The average length of stay and blood loss decreased from 16.5 days and 816.1 ml to 13.5 days and 501.7 ml. The complication and readmission rates also decreased during these ten years. CONCLUSION During this ten-year period, the surgical treatment of CS at our institute showed trends toward a younger age at fusion, lower number of fused segments, higher rate of osteotomy and titanium cage implantation, reduced blood loss, shorter length of stay and lower rate complications and readmission. These results suggest performing osteotomy combined with titanium cage implantation at an earlier age can achieve fewer fused segments and complications.
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Affiliation(s)
- Guanfeng Lin
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - You Du
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Shengru Wang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Yang Yang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Xiaohan Ye
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Yiwei Zhao
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Weijie Yu
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Zhiyi Li
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Sen Zhao
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Nan Wu
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Qianyu Zhuang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Jianxiong Shen
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China
| | - Jianguo Zhang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan, Dongcheng District, Beijing, 100730, People's Republic of China.
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Demura S, Hinoi E, Kawakami N, Handa M, Yokogawa N, Hiraiwa M, Kato S, Shinmura K, Shimizu T, Oku N, Annen R, Kobayashi M, Yamada Y, Nagatani S, Iezaki T, Taniguchi Y, Tsuchiya H. The L-type Amino Acid Transporter (LAT1) Expression in Patients with Scoliosis. Spine Surg Relat Res 2022; 6:402-407. [PMID: 36051676 PMCID: PMC9381085 DOI: 10.22603/ssrr.2021-0189] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2021] [Accepted: 11/11/2021] [Indexed: 01/04/2023] Open
Abstract
Introduction Amino acid transporters are transmembrane proteins that are known to mediate the transfer of amino acids. As one of the amino acid transporters, LAT1, which is encoded by Slc7a5, mediates the cellular uptake of the essential amino acids. Recently, most studies have focused on examining the relationship between LAT1 and skeletal formation in terms of development. However, little is known regarding the clinical features of LAT1 in the cartilage, which might result in the development of skeletal deformities such as scoliosis. Thus, the aim of this study was to investigate the expression of L-type amino acid transporter 1 (LAT1) and its solute carrier transporter 7a5 (Slc7a5) in patients with pediatric scoliosis and to compare with the relationship between LAT1 and Slc7a5 expression and their clinical features. Methods We have prospectively recruited 56 patients who underwent corrective spinal fusion for scoliosis. The patients comprised 40 girls and 16 boys, with a mean age of 13.1 years at the time of surgery. There were 34 idiopathic scoliosis (IS) patients, whereas 22 were congenital scoliosis (CS) patients. During the surgery, an epiphyseal part of the spinous process at apical vertebra was harvested; then, LAT1 and Slc7a5 expressions in the cartilage were evaluated. Results As per our findings, LAT1 expression was observed in the cartilage in 60.7% (34 out of 56) of the patients. LAT1 expression in IS patients was 76%, which were statistically higher compared to 36% in CS patients. When compared with LAT1 expression, no statistical difference was noted in terms of age, gender, body mass index (BMI), Cobb angle, and Risser grade. Meanwhile, the mean Slc7a5 expression in IS patients was determined to be significantly higher than that in CS patients. No significant correlation was observed between Slc7a5 expression and age, BMI, and Cobb angle. Conclusions LAT1 and Slc7a5 expression in IS and CS patients showed significant differences. These expressions were found to be not correlated with age, stature, and severity of the deformity.
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Affiliation(s)
- Satoru Demura
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Eiichi Hinoi
- Department of Bioactive Molecules, Gifu Pharmaceutical University, Gifu, Japan.,United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan
| | - Noriaki Kawakami
- Department of Orthopaedic Surgery, Ichinomiya Nishi Hospital, Aichi, Japan
| | - Makoto Handa
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Noriaki Yokogawa
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Manami Hiraiwa
- Department of Bioactive Molecules, Gifu Pharmaceutical University, Gifu, Japan
| | - Satoshi Kato
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Kazuya Shinmura
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Takaki Shimizu
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Norihiro Oku
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Ryohei Annen
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Motoya Kobayashi
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Yohei Yamada
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Satoshi Nagatani
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
| | - Takashi Iezaki
- Department of Bioactive Molecules, Gifu Pharmaceutical University, Gifu, Japan
| | - Yuki Taniguchi
- Department of Orthopaedic Surgery, The University of Tokyo, Tokyo, Japan
| | - Hiroyuki Tsuchiya
- Department of Orthopaedic Surgery Graduate School of Medical Sciences Kanazawa University, Kanazawa, Japan
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9
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Abstract
Scoliosis is an abnormal curvature of the spine, which generally develops during childhood or adolescence. It affects 2–4 percent of the global population and is more prevalent among girls. Scoliosis is classified by its etiology: idiopathic, congenital, or neuromuscular. Among these, the former is the most common. Treatment options for scoliosis vary depending on the severity of the curve. Most scoliosis diagnoses tend to be mild and only require monitoring. However, curves between 20 and 40 degrees require bracing, while 40 degrees and above require surgery. There are various bracings available, such as Boston, Charleston, and Milwaukee. In severe cases of scoliosis, either fusion or fusionless surgery may be required. This review aims to discuss etiologies and different treatment interventions for scoliosis.
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10
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FAM20C plays a critical role in the development of mouse vertebra. Spine J 2022; 22:337-348. [PMID: 34343663 DOI: 10.1016/j.spinee.2021.07.022] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/15/2021] [Revised: 07/26/2021] [Accepted: 07/27/2021] [Indexed: 02/03/2023]
Abstract
BACKGROUND CONTEXT Family with sequence similarity 20-member C (FAM20C) is a protein kinase that is responsible for the phosphorylation of many secretory proteins; however, its roles in spine or vertebra development have not be studied. PURPOSE The aim of this investigation is to analyze the roles of FAM20C in vertebra development. STUDY DESIGN/SETTING A mouse study of the Fam20c gene using conditional knockout to assess the effects of its inactivation on vertebra development. METHODS By breeding Sox2-Cre mice with Fam20cflox/flox mice, Sox2-Cre;Fam20cflox/flox mice (abbreviated as cKO mice) are created. X-ray radiography, resin-casted scanning electron microscopy, Hematoxylin and Eosin staining, safranin O staining, Goldner's Masson trichrome staining, Von Kossa staining, tartrate-resistant alkaline phosphatase staining, immunohistochemistry staining, Western Immunoblotting and real-time PCR were employed to characterize the vertebrae of cKO mice compared to the normal control mice. RESULTS Inactivation of Fam20c in mice results in remarkable spine deformity, severe morphology and mineralization defects, altered levels of osteoblast differentiation markers, reduction of activity of the Wnt/β-catenin signaling pathway and reduced level of osteoclastogenesis in the vertebrae. CONCLUSIONS FAM20C plays an essential role in vertebral development; it may regulate vertebral formation through the Wnt/β-catenin signaling pathway. CLINICAL SIGNIFICANCE Mutations in the human FAM20C gene are associated with Raine syndrome. The findings of this study provide valuable clues for the clinical management of Raine syndrome regarding spine manifestations in patients.
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11
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Chai X, Lin G, Wang S, Yang Y, Su Z, Du Y, Xu X, Ye X, Shen J, Zhang J. Older fusion-surgery age in congenital scoliosis patients is a risk factor for extended length of stay, more estimated blood loss, longer fused segments and higher medical costs: a retrospective study. BMC Musculoskelet Disord 2021; 22:779. [PMID: 34511086 PMCID: PMC8436475 DOI: 10.1186/s12891-021-04650-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2021] [Accepted: 07/30/2021] [Indexed: 11/27/2022] Open
Abstract
Background Contradictory opinions about whether early correction and fusion surgeries should be performed for congenital scoliosis (CS) patients at a young age exist. The objectives of this study were to analyze the association between patient characteristics and fusion-surgery outcomes in CS patients treated with spinal correction and fusion surgeries and to report risk factors for extended length of stay (LOS), more estimated blood loss (EBL), longer fused segments and higher medical costs. Methods We analyzed data of 1,207 CS inpatients treated with fusion surgeries in our institute from January 2010 - December 2019. All patients underwent spinal X-ray, CT, MRI, echocardiogram and urogenital ultrasound. We analyzed demographic and clinical information and outcome measures, including LOS, EBL, fused segments and medical costs. Results Age at fusion (OR = 1.053; p < 0.001), musculoskeletal defects (OR = 1.670; p = 0.004) and thoracic deformity (OR = 1.519; p = 0.03) were risk factors for extended LOS. Age at fusion (OR = 1.117; p < 0.001), male sex (OR = 1.813; p < 0.001), mixed defects (OR = 1.662; p = 0.027) and failure of formation (OR = 1.718; p = 0.021) were risk factors for more EBL. Age at fusion (OR = 1.213; p < 0.001) was a risk factor for longer fused segments. Age at fusion (OR = 1.091; p < 0.001) and thoracic deformity (OR = 1.853; p = 0.004) were risk factors for higher medical costs. Conclusions We found that older age at fusion in CS patients is a risk factor for extended LOS, more EBL, longer fused segments and higher medical costs with the risk increasing by 5–21 % for each year of age. Other identified risk factors include thoracic deformity for extended LOS; longer fused segments, higher medical costs, and musculoskeletal defects for extended LOS; and CS type (FF and MD) and sex (male) for more EBL.
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Affiliation(s)
- Xiran Chai
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Guanfeng Lin
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Shengru Wang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Yang Yang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Zhe Su
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - You Du
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Xiaolin Xu
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Xiaohan Ye
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Jianxiong Shen
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China
| | - Jianguo Zhang
- Departments of Orthopaedic Surgery, Peking Union Medical College Hospital (PUMCH), 1st Shuai Fu Yuan Hutong, Dongcheng District, 100730, Beijing, People's Republic of China.
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12
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Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis. Genes (Basel) 2021; 12:genes12081213. [PMID: 34440387 PMCID: PMC8391542 DOI: 10.3390/genes12081213] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/31/2021] [Revised: 08/01/2021] [Accepted: 08/03/2021] [Indexed: 12/15/2022] Open
Abstract
Congenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5–10% of the affected cases. Here, we studied the genetic etiology of CS by analyzing CNVs in a cohort of 67 patients with congenital hemivertebrae and 125 family controls. We employed both candidate gene and family-based approaches to filter CNVs called from whole exome sequencing data. This identified 12 CNVs in four scoliosis-associated genes (TBX6, NOTCH2, DSCAM, and SNTG1) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as DHX40, NBPF20, RASA2, and MYSM1, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the MYSM1 mutant mouse showed spinal deformities. Our findings suggest that, in addition to the 16p11.2 microdeletion, other CNVs are potentially important in predisposing to CS.
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13
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Cross-sectional analysis of associated anomalies and vertebral anomaly location in 1289 surgical congenital scoliosis. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2021; 30:3577-3584. [PMID: 34235574 DOI: 10.1007/s00586-021-06898-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/05/2021] [Revised: 04/28/2021] [Accepted: 06/08/2021] [Indexed: 10/20/2022]
Abstract
PURPOSE This study systematically analyzed and assessed the interrelationships among vertebral anomaly location, congenital scoliosis (CS) type and associated abnormality prevalence. METHODS We retrospectively extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010-December 2019. All patients underwent spinal X-ray, CT, MRI, echocardiogram, urogenital ultrasound and systemic physical examination. We analyzed information on demographics, CS type, associated anomalies and vertebral anomaly location. RESULTS Cervical, thoracic and lumbar vertebral anomalies were found in 5.7%, 78.1% and 33.6% of patients, respectively. 82.7% had one region involved. 59.5% with cervical malformations had mixed defects and 61.1% with lumbar malformations exhibited failure of formation. The musculoskeletal defect prevalence was 28.4%, 19.1% and 9.0% in patients with cervical, thoracic and lumbar anomalies. The intraspinal defect prevalence was 33.4% and 20.7% for thoracic and lumbar anomalies. 86.5% of patients with cervical anomalies had more than one region involved, while 78.1% and 62.2% with thoracic and lumbar anomalies, respectively, had only one region involved. CONCLUSIONS Cervical malformations had higher prevalence of mixed defects, musculoskeletal and intraspinal defects and multi-region involved. Thoracic malformations had higher prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Lumbar vertebral malformation patients had much lower prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Cervical malformation was a risk factor for more associated anomalies and more severe vertebral anomalies, which deserves more attention from surgeons in outpatient clinic.
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14
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Li JY, Liu SZ, Zheng DF, Zhang YS, Yu M. Collagen VI-related myopathy with scoliosis alone: A case report and literature review. World J Clin Cases 2021; 9:5302-5312. [PMID: 34307582 PMCID: PMC8283577 DOI: 10.12998/wjcc.v9.i19.5302] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/25/2021] [Revised: 04/26/2021] [Accepted: 04/29/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy, caused by mutations in collagen type VI alpha 1 chain (COL6A1), COL6A2, and COL6A3 genes. The typical clinical presentations of collagen VI-related myopathy include weakness, hypotonia, laxity of distal joints, contractures of proximal joints, and skeletal deformities.
CASE SUMMARY A 28-year-old female presented with scoliosis for 28 years without weakness, hypotonia, laxity of distal joints, and contracture of proximal joints. Computed tomography and magnetic resonance imaging revealed hemivertebra, butterfly vertebra, and the missing vertebral space. Patients underwent orthopedic surgery and paravertebral muscle biopsy. The Cobb angle dropped from 103.4° to 52.9°. However, the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions, suggesting congenital muscular dystrophy. Gene analysis indicated that mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry staining for collagen VI displayed shallow and discontinuous. Eventually, the patient was diagnosed as collagen VI-related myopathy.
CONCLUSION This newly found subtype of collagen VI-related myopathy has no typical manifestations; however, it is characterized by severe scoliosis and congenital vertebral deformity.
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Affiliation(s)
- Jun-Yu Li
- Department of Orthopaedics, Peking University Third Hospital, Beijing 100083, China
| | - Shuo-Zi Liu
- Department of Hematology, Peking University Third Hospital, Beijing 100083, China
| | - Dan-Feng Zheng
- Department of Pathology, Peking University Third Hospital, Beijing 100083, China
| | - Ying-Shuang Zhang
- Department of Neurology, Peking University Third Hospital, Beijing 100083, China
| | - Miao Yu
- Department of Orthopaedics, Peking University Third Hospital, Beijing 100083, China
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15
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Lin G, Chai X, Wang S, Yang Y, Shen J, Zhang J. Cross-sectional analysis and trend of vertebral and associated anomalies in Chinese congenital scoliosis population: a retrospective study of one thousand, two hundred and eighty nine surgical cases from 2010 to 2019. INTERNATIONAL ORTHOPAEDICS 2021; 45:2049-2059. [PMID: 34059967 DOI: 10.1007/s00264-021-05061-x] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/25/2020] [Accepted: 04/26/2021] [Indexed: 11/25/2022]
Abstract
PURPOSE The objective of this article is to report associated anomaly incidences of a large CS cohort and analyze interrelationships among vertebral anomaly types and associated abnormalities. METHODS We retrospectively searched and extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010 to December 2019. All patients have taken spine X-ray, CT, MRI, echocardiogram, urogenital ultrasound, and systemic physical examination. We analyzed information on demographics, CS types, and associated anomalies. RESULTS CS type was found to be 49.1% for failure of formation (FF), 19.5% for failure of segmentation (FS), and 31.4% for mixed defects (MD). Intraspinal defects were found in 29.4% patients (16.0% for FF, 45.4% for FS, 40.5% for MD), cardiac in 13.7% (12.3% for FF, 14.3% for FS, 15.6% for MD), genitourinary in 5.8% (4.1% for FF, 6.0% for FS, 8.4% for MD), gastrointestinal in 3.6% (4.7% for FF, 1.6% for FS, 3.0% for MD), and musculoskeletal in 16.4% (10.3% for FF, 19.9% for FS, 23.7% for MD). The intraspinal and musculoskeletal defect incidences were significantly higher in patients with failure of segmentation and mixed defects. We also observed a decreasing trend for intraspinal and musculoskeletal defect incidences as well as a tendency for more failure of formation and less failure of segmentation from 2010 to 2019. CONCLUSIONS The intraspinal and musculoskeletal defect incidences were higher in patients with failure of segmentation and mixed defects. Strong interrelationships were found between intraspinal and musculoskeletal defects and among cardiovascular, genitourinary, and gastrointestinal defects. From 2010 to 2019, the proportion of patients with failure of formation increased significantly, causing a decrease in the intraspinal and musculoskeletal defect incidences over time. Female sex, failure of segmentation, and mixed defects could be considered risk factors for more associated anomalies in CS individuals, which would help surgeons in medical management and prenatal consultation.
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Affiliation(s)
- Guanfeng Lin
- Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH) Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS), 1st Shuaifuyuan Hutong, Beijing, 100730, People's Republic of China
| | - Xiran Chai
- Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH) Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS), 1st Shuaifuyuan Hutong, Beijing, 100730, People's Republic of China
| | - Shengru Wang
- Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH) Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS), 1st Shuaifuyuan Hutong, Beijing, 100730, People's Republic of China
| | - Yang Yang
- Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH) Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS), 1st Shuaifuyuan Hutong, Beijing, 100730, People's Republic of China
| | - Jianxiong Shen
- Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH) Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS), 1st Shuaifuyuan Hutong, Beijing, 100730, People's Republic of China
| | - Jianguo Zhang
- Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH) Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS), 1st Shuaifuyuan Hutong, Beijing, 100730, People's Republic of China.
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16
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Kwon JW, Chae HW, Lee HS, Kim S, Sung S, Lee SB, Moon SH, Lee HM, Lee BH. Incidence rate of congenital scoliosis estimated from a nationwide health insurance database. Sci Rep 2021; 11:5507. [PMID: 33750891 PMCID: PMC7943574 DOI: 10.1038/s41598-021-85088-7] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/22/2019] [Accepted: 02/23/2021] [Indexed: 11/09/2022] Open
Abstract
To investigate the epidemiology of congenital scoliosis (CS) and treatment trends. An age-matched, nationwide, population-based study was conducted using the National Health Insurance and Health Insurance Review and Assessment databases from 2010 to 2015. Data regarding the diagnosis and treatment of scoliosis were extracted using International Classifications of Diseases, 10th revision codes. The age-matched normal population was determined from the Korean Statistical Information Service database. We analyzed the incidence rate of CS according to age and sex, as well as the proportion of surgically treated patients. A total of 1664 patients (aged 0-19 years) were diagnosed with CS. The overall average incidence rate of CS over the 5-year period was 3.08 per 100,000 persons, with the highest and second highest rates at 0 years and 12-16 years of age, respectively. The incidence rate stratified by age ranged from 1.5 to 20.1 per 100,000 persons among the age-matched normal population, with peaks at 0 years of age and the second growth spurt in adolescence (12-16 years for males; 10-14 years for females). Anterior surgery was rarely performed; posterior surgery was performed in 92 patients (5.5% of all patients), with the highest prevalence (56.5%) in patients diagnosed at 10-14 years of age. The overall average incidence rate of CS over a 5-year period was 3.08 per 100,000 persons. Only 5.5% of patients underwent surgery within 5 years after the initial diagnosis.
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Affiliation(s)
- Ji-Won Kwon
- Department of Orthopedic Surgery, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea.,Department of Orthopedic Surgery, National Health Insurance Corporation Ilsan Hospital, Goyang, Korea
| | - Hyun Wook Chae
- Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
| | - Hye Sun Lee
- Biostatistics Collaboration Unit, Yonsei University College of Medicine, Seoul, Korea
| | - Sinae Kim
- Biostatistics Collaboration Unit, Yonsei University College of Medicine, Seoul, Korea
| | - Sahyun Sung
- Department of Orthopedic Surgery, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea.,Department of Orthopedic Surgery, Ewha Womans University College of Medicine, Seoul, Korea
| | - Soo Bin Lee
- Department of Orthopedic Surgery, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea.,Department of Orthopedic Surgery, Bundang Jesaeng General Hospital, Daejin Medical Center, Seongnam, Korea
| | - Seong-Hwan Moon
- Department of Orthopedic Surgery, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea
| | - Hwan-Mo Lee
- Department of Orthopedic Surgery, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea
| | - Byung Ho Lee
- Department of Orthopedic Surgery, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul, 120-752, Korea.
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17
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Wang X, Yu Y, Yang N, Xia L. Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis. J Orthop Surg Res 2020; 15:485. [PMID: 33087139 PMCID: PMC7579889 DOI: 10.1186/s13018-020-02015-8] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/06/2020] [Accepted: 10/14/2020] [Indexed: 12/02/2022] Open
Abstract
Objective This is the first systematic review and meta-analysis on the overall incidence of intraspinal abnormalities in patients with congenital scoliosis (CS) and potential influencing factors. Methods We searched three large electronic databases (PubMed, EMBASE, and Cochrane Library) for potentially relevant studies. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. Data on the number of CS patients, number of CS patients with intraspinal abnormalities, sex of the patients, and CS types were extracted from the included studies. R software was used to pool and analyze all the extracted data. Results This meta-analysis included 10 articles, and 671 of 1863 CS patients undergoing magnetic resonance imaging (MRI) examinations were identified to have intraspinal abnormalities. The overall incidence of intraspinal abnormalities in the patients with CS was 37% (95% CI, 29–45%). Diastematomyelia was the most common intraspinal abnormality and was detected in 45.60% of the patients with intraspinal abnormalities (306/671). The remaining intraspinal abnormalities included syringomyelia (273/671, 40.69%), tethered cord (190/671, 28.32%), low conus (58/671, 8.64%), intraspinal mass (39/671, 5.81%), Chiari malformation (32/671, 4.77%), fatty filum (27/671, 4.02%), spina bifida (occulta excluded) (17/671, 2.53%), tumor (17/671, 2.53%), cyst (12/671, 1.79%), syringomyelus (4/671, 0.60%), dural ectasia (1/671, 0.15%), and undiagnosed cord MRI hyperintensity (1/671, 0.15%). The patient’s sex and CS type were not factors that affected the incidence of intraspinal abnormalities in CS patients (all P > 0.05). Conclusions This meta-analysis revealed that the overall incidence of intraspinal abnormalities detected by MRI in CS patients was 37%. Diastematomyelia was the most common intraspinal abnormality. The patient’s sex and CS type were not factors that affected the incidence of intraspinal abnormalities in CS patients.
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Affiliation(s)
- Xudong Wang
- Department of Orthopaedic Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, People's Republic of China
| | - Yangke Yu
- Department of Orthopaedic Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, People's Republic of China
| | - Ningning Yang
- Department of Orthopaedic Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, People's Republic of China
| | - Lei Xia
- Department of Orthopaedic Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, People's Republic of China.
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18
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Lleras-Forero L, Newham E, Teufel S, Kawakami K, Hartmann C, Hammond CL, Knight RD, Schulte-Merker S. Muscle defects due to perturbed somite segmentation contribute to late adult scoliosis. Aging (Albany NY) 2020; 12:18603-18621. [PMID: 32979261 PMCID: PMC7585121 DOI: 10.18632/aging.103856] [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: 03/03/2020] [Accepted: 07/14/2020] [Indexed: 01/24/2023]
Abstract
Scoliosis is an abnormal bending of the body axis. Truncated vertebrae or a debilitated ability to control the musculature in the back can cause this condition, but in most cases the causative reason for scoliosis is unknown (idiopathic). Using mutants for somite clock genes with mild defects in the vertebral column, we here show that early defects in somitogenesis are not overcome during development and have long lasting and profound consequences for muscle fiber organization, structure and whole muscle volume. These mutants present only mild alterations in the vertebral column, and muscle shortcomings are uncoupled from skeletal defects. None of the mutants presents an overt musculoskeletal phenotype at larval or early adult stages, presumably due to compensatory growth mechanisms. Scoliosis becomes only apparent during aging. We conclude that adult degenerative scoliosis is due to disturbed crosstalk between vertebrae and muscles during early development, resulting in subsequent adult muscle weakness and bending of the body axis.
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Affiliation(s)
- Laura Lleras-Forero
- Institute for Cardiovascular Organogenesis and Regeneration, Faculty of Medicine, WWU, Münster, Germany,Hubrecht Institute-KNAW and University Medical Center Utrecht, CT, Utrecht, The Netherlands
| | - Elis Newham
- The School of Physiology, Pharmacology and Neuroscience, Biomedical Sciences, University of Bristol, Bristol, UK
| | - Stefan Teufel
- Institut für Muskuloskelettale Medizin (IMM), Abteilung Knochen- und Skelettforschung, Universitätsklinikum Münster, Germany
| | - Koichi Kawakami
- Laboratory of Molecular and Developmental Biology, National Institute of Genetics, Mishima, Shizuoka, Japan
| | - Christine Hartmann
- Institut für Muskuloskelettale Medizin (IMM), Abteilung Knochen- und Skelettforschung, Universitätsklinikum Münster, Germany
| | - Chrissy L. Hammond
- The School of Physiology, Pharmacology and Neuroscience, Biomedical Sciences, University of Bristol, Bristol, UK
| | - Robert D. Knight
- Centre for Craniofacial and Regenerative Biology, King´s College London, London, UK
| | - Stefan Schulte-Merker
- Institute for Cardiovascular Organogenesis and Regeneration, Faculty of Medicine, WWU, Münster, Germany,Hubrecht Institute-KNAW and University Medical Center Utrecht, CT, Utrecht, The Netherlands
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Liu Z, Ramachandran J, Vokes SA, Gray RS. Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis. Dis Model Mech 2019; 12:dmm.041251. [PMID: 31848143 PMCID: PMC6955203 DOI: 10.1242/dmm.041251] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/25/2019] [Accepted: 11/18/2019] [Indexed: 12/20/2022] Open
Abstract
Idiopathic scoliosis (IS) is the most common type of musculoskeletal defect affecting children worldwide, and is classified by age of onset, location and degree of spine curvature. Although rare, IS with onset during infancy is the more severe and rapidly progressive form of the disease, associated with increased mortality due to significant respiratory compromise. The pathophysiology of IS, in particular for infantile IS, remains elusive. Here, we demonstrate the role of PRMT5 in the infantile IS phenotype in mouse. Conditional genetic ablation of PRMT5 in osteochondral progenitors results in impaired terminal hypertrophic chondrocyte differentiation and asymmetric defects of endochondral bone formation in the perinatal spine. Analysis of these several markers of endochondral ossification revealed increased type X collagen (COLX) and Ihh expression, coupled with a dramatic reduction in Mmp13 and RUNX2 expression, in the vertebral growth plate and in regions of the intervertebral disc in the Prmt5 conditional mutant mice. We also demonstrate that PRMT5 has a continuous role in the intervertebral disc and vertebral growth plate in adult mice. Altogether, our results establish PRMT5 as a critical promoter of terminal hypertrophic chondrocyte differentiation and endochondral bone formation during spine development and homeostasis. This article has an associated First Person interview with the first author of the paper. Summary: Loss of Prmt5 in osteochondral progenitors impairs terminal hypertrophic chondrocyte differentiation, leading to defects in endochondral bone formation and models infantile idiopathic scoliosis in mouse.
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Affiliation(s)
- Zhaoyang Liu
- Department of Pediatrics, Dell Pediatric Research Institute, 1400 Barbara Jordan Blvd, The University of Texas at Austin, Dell Medical School, Austin, TX 78723, USA
| | - Janani Ramachandran
- Department of Molecular Biosciences, 2500 Speedway, The University of Texas at Austin, Austin, TX 78712, USA
| | - Steven A Vokes
- Department of Molecular Biosciences, 2500 Speedway, The University of Texas at Austin, Austin, TX 78712, USA
| | - Ryan S Gray
- Department of Pediatrics, Dell Pediatric Research Institute, 1400 Barbara Jordan Blvd, The University of Texas at Austin, Dell Medical School, Austin, TX 78723, USA .,Department of Nutritional Sciences, 200 W 24th Street, The University of Texas at Austin, Austin, TX 78712, USA
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20
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Identification of novel FBN1 variations implicated in congenital scoliosis. J Hum Genet 2019; 65:221-230. [PMID: 31827250 PMCID: PMC6983459 DOI: 10.1038/s10038-019-0698-x] [Citation(s) in RCA: 17] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2019] [Revised: 10/23/2019] [Accepted: 11/08/2019] [Indexed: 12/13/2022]
Abstract
Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic CS genes remain to be elucidated. In this study, we analyzed exome sequencing (ES) data of 615 Chinese CS from the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) project. Cosegregation studies for 103 familial CS identified a novel heterozygous nonsense variant, c.2649G>A (p.Trp883Ter) in FBN1. The association between FBN1 and CS was then analyzed by extracting FBN1 variants from ES data of 574 sporadic CS and 828 controls; 30 novel variants were identified and prioritized for further analyses. A mutational burden test showed that the deleterious FBN1 variants were significantly enriched in CS subjects (OR = 3.9, P = 0.03 by Fisher’s exact test). One missense variant, c.2613A>C (p.Leu871Phe) was recurrent in two unrelated CS subjects, and in vitro functional experiments for the variant suggest that FBN1 may contribute to CS by upregulating the transforming growth factor beta (TGF-β) signaling. Our study expanded the phenotypic spectrum of FBN1, and provided nove insights into the genetic etiology of CS.
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Wu L, Zhang XN, Wang YS, Liu YZ, Hai Y. Risk factors for pulmonary complications after posterior spinal instrumentation and fusion in the treatment of congenital scoliosis: a case-control study. BMC Musculoskelet Disord 2019; 20:331. [PMID: 31311602 PMCID: PMC6631870 DOI: 10.1186/s12891-019-2708-8] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/29/2019] [Accepted: 07/05/2019] [Indexed: 01/11/2023] Open
Abstract
BACKGROUND Although surgery prevents the progression of deformity and maintains the overall balance of the spine in congenital scoliosis (CS) patients, it is associated with a high risk of perioperative complications. Pulmonary complication is one of the most common complications. This retrospective study aimed to investigate the risk factors for pulmonary complications in CS patients after posterior spinal instrumentation and fusion. METHODS Analysis of consecutive patients who underwent posterior spinal instrumentation and fusion for congenital scoliosis was performed. Preoperative clinical data, intraoperative variables, and perioperative radiographic parameters were collected to analyze the risk factors for pulmonary complications. Patients were separated into groups with and without postoperative pulmonary complications. Potential risk factors were identified by univariate testing. Multivariate logistic regression was used to evaluate independent predictors of pulmonary complications. RESULTS Three hundred and twenty-three CS patients were included. Forty-five (13.9%) patients developed postoperative pulmonary complications, which included pleural effusion in 34 (75.6%) cases, pneumonia in 24 (53.3%) cases, pneumothorax in 3 (6.7%) cases, atelectasis in 4 (8.9%) cases, pulmonary edema in 2 (4.4%) cases, respiratory failure in 2 (4.4%) cases, and prolonged mechanical ventilation in 4 (8.9%) cases. The independent risk factors for development of pulmonary complications included age (Odds ratio (OR) = 1.088, P = 0.038), reoperation (OR = 5.150, P = 0.012), preoperative pulmonary disease (OR = 10.504, P = 0.004), correction rate (OR = 1.088, P = 0.001), middle thoracic screw-setting (OR = 12.690, P = 0.043), and thoracoplasty (OR = 5.802, P = 0.001). The area under the receiver operating characteristic (ROC) curve based on predicted probability of the logistic regression was 0.903. CONCLUSIONS Age, reoperation, preoperative pulmonary disease, correction rate, middle thoracic screw-setting, and thoracoplasty were independent risk factors for pulmonary complications after posterior spinal instrumentation and fusion in CS patients.
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Affiliation(s)
- Lei Wu
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No. 8 Gongti South Rd, Beijing, 100043, China.,Department of Orthopedics, Beijing Haidian Hospital, Haidian section of Peking University Third Hospital, No. 29 Zhongguancun St, Beijing, 100080, China
| | - Xi-Nuo Zhang
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No. 8 Gongti South Rd, Beijing, 100043, China
| | - Yun-Sheng Wang
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No. 8 Gongti South Rd, Beijing, 100043, China
| | - Yu-Zeng Liu
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No. 8 Gongti South Rd, Beijing, 100043, China
| | - Yong Hai
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No. 8 Gongti South Rd, Beijing, 100043, China.
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22
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[Congenital spine deformities during growth : Modern concepts of treatment]. DER ORTHOPADE 2019; 48:486-493. [PMID: 31101965 DOI: 10.1007/s00132-019-03744-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/26/2022]
Abstract
BACKGROUND Congenital malformations of the spine can produce scoliosis, kyphosis, lordoscoliosis or kyphoscoliosis. Deformities may progress slowly or fast or may even be stable without progression. Knowledge of the natural history of such deformities is of utmost importance. Besides deformities of the spine and the thorax, a number of associated anomalies have to be taken into account, like thoracic, intraspinal, cardiac and urogenital abnormalities. Special examinations, including MRI of the entire spinal canal need to be ordered prior to beginning of treatment. TREATMENT Conservative treatment, including physical therapy and bracing, will not control progression of the curve. Serial casting may be offered for some types of congenital malformations in early childhood. An isolated hemivertebra is best resected by a posterior approach only at age 5 to 6. Growth guiding anterior or posterior procedures like growing rods are currently indicated for very few cases. However, the VEPTR procedure is well indicated for complex congenital deformities with or without thoracic malformations, preserving the growth potential of the spine and the thorax. KYPHOTIC DEFORMITIES Kyphotic deformities can not be treated with growth preserving surgery, so that early correction with short fusion is usually indicated. The most severe deformities may have to be treated with complex osteotomies, including VCR (vertebral column resection).
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Falahatian M, Masaeli MF. Effect of posterior fusion surgery on idiopathic scoliosis in Iran. JOURNAL OF CRANIOVERTEBRAL JUNCTION AND SPINE 2019; 10:24-27. [PMID: 31000976 PMCID: PMC6469314 DOI: 10.4103/jcvjs.jcvjs_121_18] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2022] Open
Abstract
Background: Scoliosis is a sideways curve in the spine. Considering that postoperative complications are common among these patients, the aim of this study is to examine the postoperative complications of posterior fusion surgery with instrumentation among adult patients with idiopathic scoliosis. Methods: In this cross-sectional descriptive study, the postoperative complications were examined among 93 patients with idiopathic scoliosis who underwent posterior fusion surgery with instrumentation. The convenience sampling was used by referring to the files of these patients. The patients were classified into four groups according to the type of scoliosis deformity (long C-shaped, thoracic, thoracolumbar/lumbar, and double-curve) and the complications were compared together. Results: Postoperative respiratory problems were significantly different between the four groups of scoliosis deformity (P = 0.009); 35 cases of postoperative complications occurred and 20 of them were related to postoperative pulmonary complications. Conclusion: Postoperative complications are common among patients with idiopathic scoliosis who underwent posterior fusion surgery with instrumentation; in addition, pulmonary complications are the most common postoperative complication among these patients.
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Affiliation(s)
- Masih Falahatian
- Department of Orthopedic, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
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Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G, Zhang F, Wu Z, Lupski JR, Wu N. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 2018; 137:553-567. [PMID: 30019117 DOI: 10.1007/s00439-018-1910-3] [Citation(s) in RCA: 51] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2018] [Accepted: 07/07/2018] [Indexed: 01/25/2023]
Abstract
With the recent advance in genome-wide association studies (GWAS), disease-associated single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) have been extensively reported. Accordingly, the issue of incorrect identification of recombination events that can induce the distortion of multi-allelic or hemizygous variants has received more attention. However, the potential distorted calculation bias or significance of a detected association in a GWAS due to the coexistence of CNVs and SNPs in the same genomic region may remain under-recognized. Here we performed the association study within a congenital scoliosis (CS) cohort whose genetic etiology was recently elucidated as a compound inheritance model, including mostly one rare variant deletion CNV null allele and one common variant non-coding hypomorphic haplotype of the TBX6 gene. We demonstrated that the existence of a deletion in TBX6 led to an overestimation of the contribution of the SNPs on the hypomorphic allele. Furthermore, we generalized a model to explain the calculation bias, or distorted significance calculation for an association study, that can be 'induced' by CNVs at a locus. Meanwhile, overlapping between the disease-associated SNPs from published GWAS and common CNVs (overlap 10%) and pathogenic/likely pathogenic CNVs (overlap 99.69%) was significantly higher than the random distribution (p < 1 × 10-6 and p = 0.034, respectively), indicating that such co-existence of CNV and SNV alleles might generally influence data interpretation and potential outcomes of a GWAS. We also verified and assessed the influence of colocalizing CNVs to the detection sensitivity of disease-associated SNP variant alleles in another adolescent idiopathic scoliosis (AIS) genome-wide association study. We proposed that detecting co-existent CNVs when evaluating the association signals between SNPs and disease traits could improve genetic model analyses and better integrate GWAS with robust Mendelian principles.
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Affiliation(s)
- Jiaqi Liu
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China
| | - Yangzhong Zhou
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Sen Liu
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Xiaofei Song
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
| | - Xin-Zhuang Yang
- Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Yanhui Fan
- School of Biomedical Sciences, The University of Hong Kong, Hong Kong, China
| | - Weisheng Chen
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Zeynep Coban Akdemir
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
| | - Zihui Yan
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Yuzhi Zuo
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Renqian Du
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
| | - Zhenlei Liu
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China
| | - Bo Yuan
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
| | - Sen Zhao
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Gang Liu
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Yixin Chen
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Yanxue Zhao
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Mao Lin
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Qiankun Zhu
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Yuchen Niu
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.,Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - Pengfei Liu
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
| | - Shiro Ikegawa
- Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, 108-8639, Japan
| | - You-Qiang Song
- School of Biomedical Sciences, The University of Hong Kong, Hong Kong, China
| | - Jennifer E Posey
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
| | - Guixing Qiu
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China
| | | | - Feng Zhang
- Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, 200433, China.,Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200433, China
| | - Zhihong Wu
- Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.,Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China
| | - James R Lupski
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.,Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.,Texas Children's Hospital, Houston, TX, 77030, USA
| | - Nan Wu
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China. .,Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China. .,Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.
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The etiology of congenital scoliosis: genetic vs. environmental—a report of three monozygotic twin cases. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2018; 27:533-537. [DOI: 10.1007/s00586-018-5604-2] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/11/2018] [Accepted: 04/12/2018] [Indexed: 10/17/2022]
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Abstract
BACKGROUND Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. METHODS A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. RESULTS A total of 36 papers were selected for review based upon new findings. Classic manuscripts on congenital scoliosis are also included to provide sufficient background information. CONCLUSIONS Congenital scoliosis represents a wide range of pathology from the simple, stable hemivertebra to the complex, progressive spinal deformity with chest wall abnormalities and associated cardiac, renal, and neural axis anomalies. This paper reviews the natural history and associated anomalies with congenital scoliosis as well as the most up-to-date classification schemes and various treatment options for the care of this challenging patient population. LEVEL OF EVIDENCE Level 5.
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Kim DK, Kim CY, Lee BK, Seo D. A comparison of ultrasonography measurement on the abdominal muscle thickness between adolescent idiopathic scoliosis and healthy subjects. J Back Musculoskelet Rehabil 2018; 31:65-74. [PMID: 28826167 DOI: 10.3233/bmr-169667] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]
Abstract
BACKGROUND Many studies have shown asymmetric behavior of the surface and deep layers of spine muscles in scoliosis patients, compared to normal individuals. However, there is a lack of research on the transversus abdominal (TA) muscle, which plays an important role in trunk stabilization. OBJECTIVE To assess symmetry in subjects with adolescent idiopathic scoliosis (AIS) by measuring the thickness of abdominal muscles, and to investigate characteristic features through a comparative analysis of the data with healthy aged-matched group. METHODS Subjects consisted of 33 AIS and 32 healthy subjects of similar ages between 11-28 years old. We measured TA, internal abdominal oblique (IO), and external abdominal oblique (EO) muscles were measured using ultrasonography imaging. Three repeat measurements of the thickness of each muscle were performed during rest and contraction. RESULTS For the healthy subjects, the intra-class correlation coefficients (ICCs) for the muscle thickness measures ranged from 0.70 to 0.99, standard error of measurement (SEM) was 0.38 cm, and minimal detectable change (MDC) was 1.07 cm. The ICCs for the muscle thickness measures in the AIS group ranged from 0.90 to 0.98, SEM was 0.45 cm, and MDC was 1.24 cm. The symmetry of the two groups was compared, and showed significant difference only in TA in AIS patient group (P< 0.01). CONCLUSIONS In conclusion, treatment should be focused on exercises that emphasize symmetry, to induce normal action of the TA and structural changes in the spine because AIS induces asymmetry in TA, which plays an important role in trunk stability.
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Affiliation(s)
- Dong-Ki Kim
- Rehabilitation and Pain Clinic, Daejeon, Korea
| | - Chang-Yong Kim
- Facilities and Equipment Policy Team, National Research Facilities and Equipment Center, Korea Basic Science Institute, Daejeon, Korea
| | - Byoung-Kwon Lee
- Department of Physical Therapy, Konyang University, Daejon, Korea
| | - Dongkwon Seo
- Department of Physical Therapy, Konyang University, Daejon, Korea
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Hou D, Kang N, Yin P, Hai Y. Abnormalities associated with congenital scoliosis in high-altitude geographic regions. INTERNATIONAL ORTHOPAEDICS 2018; 42:575-581. [PMID: 29387915 DOI: 10.1007/s00264-018-3805-2] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/25/2017] [Accepted: 01/23/2018] [Indexed: 11/28/2022]
Abstract
PURPOSE To assess the different characteristics of congenital scoliosis between low-altitude geographic regions and high-altitude geographic regions in Chinese population and discuss the role of hypoxia on those differences. METHODS A total of 120 patients with congenital scoliosis who underwent surgical treatment in our Hospital between January 2009 and October 2017 were identified. Complete data were reviewed, including medical records, X-ray, CT, and MRI pre-operatively. According to the patient's birthplace, they were divided into low-altitude geographic regions (low group) and high-altitude geographic regions (high group). Characteristics of vertebral deformities, rib deformities, and intra-spinal malformations in two groups were analyzed. RESULTS A total of 397 segments of vertebral deformities were involved in the two groups, of which 136 were involved in high group and 261 in low group. The average segments involved were 4.5 and 2.9, respectively, in two groups. 63.3% patients in high group have rib deformities, which is significantly higher than that of low group (41.1%); and the proportion of patients with complex rib deformities in high group was also higher than that in low group (57.9% VS 24.3%). The incidence of CS associated with intra-spinal malformations in low group was 38.9%, which was similar to those reported previously; however, the incidence of that in high group was 63%, significantly higher than previous reports. CONCLUSION Our results suggested that CS patients in high-altitude geographic regions might tend to have higher proportion and more severe of rib deformities, and also be more likely to accompany with intra-spinal malformations. So we supposed that hypoxia not only aggravated the proportion and severity of rib deformities, but also affected the development of spinal cord in humans.
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Affiliation(s)
- Dongpo Hou
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No.8 Gong Ren Ti Yu Chang Nan Lu Road, Beijing, Chaoyang District, 100020, China
| | - Nan Kang
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No.8 Gong Ren Ti Yu Chang Nan Lu Road, Beijing, Chaoyang District, 100020, China
| | - Peng Yin
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No.8 Gong Ren Ti Yu Chang Nan Lu Road, Beijing, Chaoyang District, 100020, China
| | - Yong Hai
- Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, No.8 Gong Ren Ti Yu Chang Nan Lu Road, Beijing, Chaoyang District, 100020, China.
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Vissarionov SV, Larionova VI, Kazarian IV, Filippova AN, Kostik MM, Voitovich AN, Rotchev EV. The gene polymorphisms of COL1A1 and VDR in children with scoliosis. PEDIATRIC TRAUMATOLOGY, ORTHOPAEDICS AND RECONSTRUCTIVE SURGERY 2017; 5:5-12. [DOI: 10.17816/ptors515-12] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/09/2025]
Abstract
Background. Identification of the genetic prerequisites for development of spinal deformity.
Aim. The aim of the study was to assess the frequency of distribution of alleles and genotypes for polymorphisms -3731A/G (Cdx2) and +61968T/C (TaqI) of the VDR gene and -1997G/T and +1245G/T (Sp1) of the COL1A1 gene in children with scoliosis of various etiologies and in healthy children.
Materials and methods. Clinical genetic testing was performed in 154 children with congenital scoliosis, 145 children with idiopathic scoliosis, and 278 children without an orthopedic pathology. The molecular genetic testing was performed by PCR.
Results. Genotype tt/GG VDR gene incidence is twice as high in children with congenital scoliosis than in children who do not have scoliosis (11% and 5.2% of cases, respectively; χ² = 4.17; df = 1; p = 0.04).
Conclusion. We have found that children with the allele carriers t(C) and genotype tt(CC) in patients with congenital scoliosis were significantly more likely than children without scoliosis spinal deformity.
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Mancuso Filho JA, Borges PA, Tsuchiya EH, Letaif OB, Marcon RM, Cristante AF. CHANGES IN THE SAGITTAL BALANCE IN CONGENITAL SCOLIOSIS CORRECTION SURGERY. COLUNA/COLUMNA 2016. [DOI: 10.1590/s1808-185120161504147573] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022] Open
Abstract
ABSTRACT Objective: This study aimed to determine whether surgery leads to changes in sagittal balance in patients with congenital scoliosis. Methods: We retrospectively reviewed all cases of scoliosis operated in a tertiary hospital between January 2009 and January 2013. In all cases the deformity in the coronal and sagittal planes, kyphosis, and lordosis were measured, using the Cobb method, and spinopelvic parameters: pelvic incidence (PI), sacral slope (SS), and pelvic tilt (PT). Results A hundred and eleven medical records were analyzed, but the sample resulted in 10 patients, six of whom were females (60%). The average age was 13.4 years. In the comparative analysis between pre and postoperative, only the coronal deformity (12.37; CI 95% [7.88-16.86]; p<0.001), the sagittal deformity (12.71; CI 95% [4.21-21.22]; p=0.011), and the lumbar lordosis (9.9; CI 95% [0.38-19.42]; p=0.043) showed significant change. Conclusion: There was no change in the spinopelvic parameters of patients with congenital scoliosis undergoing surgery at IOF-FMUSP between 2009 and 2013; however, it was observed decrease in lumbar lordosis, and deformity angle in the sagittal and coronal planes.
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Abstract
BACKGROUND This study examines preoperative hemoglobin (Hgb) and hematocrit (Hct) levels in a group of early-onset scoliosis (EOS) patients and the effect of distraction-based growing rods (GRs) on these levels. Children with EOS are at risk for respiratory insufficiency and chronic hypoxemia. Increased Hgb and Hct levels have been identified as surrogate markers for chronic hypoxemia. A study of patients who underwent VEPTR surgery showed a significant decrease in Hgb levels following surgery. METHODS Data were retrospectively collected on 66 EOS patients without confounding respiratory issues or oxygen dependence who were treated with GRs at 5 institutions. Average age at initial surgery was 5.5 years. Patients were followed for a minimum of 2 years (average 3.7 y). Preoperative and postoperative Hgb and Hct levels were converted to Z-scores based on age-adjusted mean blood indices and were compared using a paired t test. RESULTS The prevalence of elevated Hgb and Hct levels (Z-score >2) preoperatively was 15% (10/66) and 19% (12/64), respectively. The average Hgb Z-score decreased from 0.20 to -0.31 (P=0.005) 6 to 24 months following surgery and the Hct Z-score decreased from 0.31 to -0.28 (P=0.002) 6 to 24 months following surgery. CONCLUSIONS Following distraction-based GR treatment of children with EOS there was a significant decrease in both their Hgb and Hct. This is a physiological marker of decreased hypoxemia and improved pulmonary function. LEVEL OF EVIDENCE Level III-therapeutic study.
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Farmer S, Choi D. Spinal Column and Spinal Cord Disorders. Neurology 2016. [DOI: 10.1002/9781118486160.ch16] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022] Open
Affiliation(s)
| | - David Choi
- National Hospital for Neurology & Neurosurgery
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Yang Y, Wang BQ, Wu ZH, Zhang HY, Qiu GX, Shen JX, Zhang JG, Zhao Y, Wang YP, Fei Q. Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case-control association study in a Chinese Han population. Medicine (Baltimore) 2016; 95:e4347. [PMID: 27472720 PMCID: PMC5265857 DOI: 10.1097/md.0000000000004347] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
Abstract
Genetic etiology hypothesis is widely accepted in the development of congenital scoliosis (CS). The delta-like 3 (DLL3) gene, a member of the Notch signaling pathway, was implicated to contribute to human CS. In this study, a case-control association study was conducted to determine the association of single nucleotide polymorphism (SNP) in the DLL3 gene with CS in a Chinese Han Population. Five known tagging SNPs of the DLL3 gene were genotyped among 270 Chinese Han subjects (128 nonsyndromic CS patients and 142 matched controls). CS patients were divided into 3 types: type I-failure of formation (29 cases), type II-failure of segmentation (50 cases), and type III-mixed defects (49 cases). The 5 SNPs were analyzed by the allelic and genotypic association analysis, genotype-phenotype association analysis, and haplotype analysis. Allele frequencies of 5 tagging SNPs (SNP1: rs1110627, SNP2: rs3212276, SNP3: rs2304223, SNP4: rs2304222, and SNP5: rs2304214) in CS cases and controls were comparable and there were no available inheritance models. The SNPs were not associated with clinical phenotypes. Moreover, the 5 makers in the DLL3 gene were found to be in strong linkage disequilibrium (LD). Both global haplotype and individual haplotype analyses showed that the haplotypes of SNP1/SNP2/SNP3/SNP4/SNP5 did not correlate with the disease (P >0.05). Together, these data suggest that genetic variants of the DLL3 gene are not associated with CS in the Chinese Han population.
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Affiliation(s)
- Yong Yang
- Department of Orthopaedics, Beijing Friendship Hospital, Capital Medical University
| | - Bing-Qiang Wang
- Department of Orthopaedics, Beijing Friendship Hospital, Capital Medical University
| | - Zhi-Hong Wu
- Department of Orthopaedics, Peking Union Medical College Hospital
| | - Hai-Yan Zhang
- Department of Cell Biology, Capital Medical University, Xicheng, Beijing, China
| | - Gui-Xing Qiu
- Department of Orthopaedics, Peking Union Medical College Hospital
| | - Jian-Xiong Shen
- Department of Orthopaedics, Peking Union Medical College Hospital
| | - Jian-Guo Zhang
- Department of Orthopaedics, Peking Union Medical College Hospital
| | - Yu Zhao
- Department of Orthopaedics, Peking Union Medical College Hospital
| | - Yi-Peng Wang
- Department of Orthopaedics, Peking Union Medical College Hospital
| | - Qi Fei
- Department of Orthopaedics, Beijing Friendship Hospital, Capital Medical University
- Correspondence: Qi Fei, Department of Orthopaedics, Beijing Friendship Hospital, Capital Medical University, Xicheng, Beijing, China (e-mail: )
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Fekete TF, Haschtmann D, Heyde CE, Kleinstück F, Jeszenszky D. [Congenital malformations of the growing spine : When should treatment be conservative and when should it be surgical?]. DER ORTHOPADE 2016; 45:518-26. [PMID: 27225659 DOI: 10.1007/s00132-016-3275-4] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
Abstract
Congenital malformations of the spine are caused by genetic and teratogenic factors. By means of asymmetrical longitudinal growth of the spine they can lead to deformity, most commonly to scoliosis. The malformations can be classified as failure of formation, failure of segmentation and mixed-type malformations. The extent of the deformity and its progression are determined by the remaining growth potential and the location and type of malformation. Up to one third of such deformities are associated with some sort of cardiac or urogenital malformation. The treatment concept is typically determined on an individual basis. Mild deformities often remain undetected. Conservative treatment using a brace has no substantial effect on the primary curve but might be helpful in the treatment of long sweeping, flexible, secondary curves. If rapid progression is documented or expected, surgical intervention as early as possible is warranted to prevent secondary structural changes. The surgical treatment should be focused on and limited to the site of malformation. The aim of surgery is the correction of the deformity at the site of asymmetrical growth. This can be achieved either by resection of a hemivertebra or by performing a vertebral column resection or other type of osteotomy. If notable compensatory, secondary curves are present, these can be corrected with growing rod constructs. The aim of all types of treatment is the correction of existing deformity or the prevention of its progression, in order to ensure balanced growth of the healthy regions of the spine. The present paper discusses the conservative and surgical treatment modalities available to achieve these aims.
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Affiliation(s)
- T F Fekete
- Wirbelsäulenchirurgie, Muskulo-Skelettal Zentrum, Schulthess Klinik, Lengghalde 2, 8008, Zürich, Schweiz
| | - D Haschtmann
- Wirbelsäulenchirurgie, Muskulo-Skelettal Zentrum, Schulthess Klinik, Lengghalde 2, 8008, Zürich, Schweiz
| | - C-E Heyde
- Klinik für Orthopädie, Unfallchirurgie und Plastische Chirurgie, Bereich Wirbelsäulenchirurgie, Universität Leipzig, Liebigstraße 20, 04103, Leipzig, Deutschland
| | - F Kleinstück
- Wirbelsäulenchirurgie, Muskulo-Skelettal Zentrum, Schulthess Klinik, Lengghalde 2, 8008, Zürich, Schweiz
| | - D Jeszenszky
- Wirbelsäulenchirurgie, Muskulo-Skelettal Zentrum, Schulthess Klinik, Lengghalde 2, 8008, Zürich, Schweiz.
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Vertebral and Intraspinal Anomalies in Indian Population with Congenital Scoliosis: A Study of 119 Consecutive Patients. Asian Spine J 2016; 10:276-81. [PMID: 27114768 PMCID: PMC4843064 DOI: 10.4184/asj.2016.10.2.276] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/08/2015] [Revised: 07/21/2015] [Accepted: 07/21/2015] [Indexed: 11/08/2022] Open
Abstract
STUDY DESIGN Retrospective case study by clinical and radiological data analysis. PURPOSE To analyze different types of vertebral anomalies and the incidence of associated intraspinal anomalies in the Indian population. OVERVIEW OF LITERATURE This is the largest study of congenital scoliosis and associated intraspinal anomalies in Indian population. Incidence of intraspinal anomaly in this series is 47% which is higher than previous literature. Hemivertebra was the most common anomaly as seen in previous studies. METHODS A total of 119 patients with congenital scoliosis who underwent surgery between December 2006 and December 2012 were studied. Data was reviewed with medical records, plain radiographs, and magnetic resonance imaging (MRI) scans. RESULTS Thoracolumbar curve was most common, seen in 43.6% of patients. In addition to scoliotic deformity, kyphosis was seen in 26% of patients. Failure of formation, the most common vertebral anomaly, was seen in 51.2% of patients, failure of segmentation was seen in 19.3% of patients, and there were 29.4% patients having both formation and segmentation anomalies. Hemivertebra was the most common vertebral anomaly seen in 66.3% of patients and for whom 63.2% were in thoracic spine. Intraspinal anomalies were associated with 47% of patients with congenital scoliosis. Tethered cord was the most common intraspinal abnormality and was found in 48.2% patients with intraspinal anomalies. The patients with failure of segmentation and mixed deformities were found to have a significantly higher incidence of intraspinal anomalies (65% and 57%, respectively) than those with failure of formation (34%). Out of 31 patients with kyphotic deformity 29% had intraspinal anomalies, and amongst them tethered cord was the most common anomaly seen in 66% patients. Out of 12 patients with neurocutaneous markers, 83% patients had intraspinal anomaly. CONCLUSIONS Intraspinal anomalies were seen in 47% of patients with congenital scoliosis in the Indian population. Tethered cord was the most common intraspinal anomaly, seen in 48% cases of congenital scoliosis. Hemivertebra was seen in 66% cases and was the most common vertebral defect. Hence MRI imaging of whole spine should be done in all cases of congenital scoliosis before any surgical intervention. Special attention should be given to physical examination and visualization of any neurocutaneous markers, which are associated with a higher incidence of intraspinal anomalies; absence of a neurocutaneous marker, however, does not rule out intraspinal anomaly.
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Nakazawa M, Crook S, Horan J, D Orazio J. Suprarenal Neuroblastoma Presenting in a Child With Infantile Scoliosis. Pediatr Blood Cancer 2016; 63:748-9. [PMID: 26575176 DOI: 10.1002/pbc.25835] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/23/2015] [Accepted: 10/13/2015] [Indexed: 11/09/2022]
Affiliation(s)
- Mary Nakazawa
- Departments of Pathology and Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky
| | - Shannon Crook
- Departments of Pathology and Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky
| | - Jessica Horan
- Departments of Pathology and Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky
| | - John D Orazio
- Departments of Pathology and Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky
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Chang DG, Yang JH, Lee JH, Kim YH, Kim JH, Suh SW, Ha KY, Suk SI. Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR): A Case Report. Medicine (Baltimore) 2016; 95:e3499. [PMID: 27124052 PMCID: PMC4998715 DOI: 10.1097/md.0000000000003499] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/03/2022] Open
Abstract
The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term follow-up after posterior vertebral column resection (PVCR) in both identical twins with similar congenital kyphoscoliosis at thoracolumbar levels. Twin I had been noticed by his parents to have asymmetry of his back at age 5 years, but no treatment was given. Twin II was first noticed to have a spinal problem at 11 years of age by his parents. Overtime, spine of both twins became further deviated to the left with kyphosis and was referred to our hospital. Both monozygotic twins were treated by PVCR and satisfactory results were demonstrated at 10-year follow-up.This case is the first report on the surgical treatment with PVCR, almost simultaneously, in both identical twins who had similar congenital vertebral anomalies causing kyphoscoliosis. Both identical twins with congenital kyphoscoliosis had undergone surgical correction by PVCR, anterior support with a mesh cage and posterior fusion using pedicle screws at the age of 14 years and achieved a satisfactory correction and a stable spine without curve progression with 10-year follow-up.
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Affiliation(s)
- Dong-Gune Chang
- From the Department of Orthopaedic Surgery (D-GC, J-HK, S-IS), Sanggye Paik Hospital, College of Medicine, The Inje University; Department of Orthopaedic Surgery (JHY, S-WS), Korea University Guro-Hospital, College of Medicine, The Korea University; Department of Orthopaedic Surgery (J-HL), Kyung Hee Hospital, College of Medicine, The Kyung Hee University; and Department of Orthopaedic Surgery (Y-HK, K-YH), Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
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Park J, Lee SG, Bae J, Lee JC. The correlation between calcaneal valgus angle and asymmetrical thoracic-lumbar rotation angles in patients with adolescent scoliosis. J Phys Ther Sci 2015; 27:3895-9. [PMID: 26834376 PMCID: PMC4713815 DOI: 10.1589/jpts.27.3895] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2015] [Accepted: 09/25/2015] [Indexed: 11/29/2022] Open
Abstract
[Purpose] This study aimed to provide a predictable evaluation method for the progression
of scoliosis in adolescents based on quick and reliable measurements using the naked eye,
such as the calcaneal valgus angle of the foot, which can be performed at public
facilities such as schools. [Subjects and Methods] Idiopathic scoliosis patients with a
Cobb’s angle of 10° or more (96 females, 22 males) were included in this study. To
identify relationships between factors, Pearson’s product-moment correlation coefficient
was computed. The degree of scoliosis was set as a dependent variable to predict thoracic
and lumbar scoliosis using ankle angle and physique factors. Height, weight, and left and
right calcaneal valgus angles were set as independent variables; thereafter, multiple
regression analysis was performed. This study extracted variables at a significance level
(α) of 0.05 by applying a stepwise method, and calculated a regression equation. [Results]
Negative correlation (R=−0.266) was shown between lumbar lordosis and asymmetrical lumbar
rotation angles. A correlation (R=0.281) was also demonstrated between left calcaneal
valgus angles and asymmetrical thoracic rotation angles. [Conclusion] Prediction of
scoliosis progress was revealed to be possible through ocular inspection of the calcaneus
and Adams forward bending test and the use of a scoliometer.
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Affiliation(s)
- Jaeyong Park
- Institute of Sports Health Science, Sunmoon University, Repubic of Korea
| | - Sang Gil Lee
- Schroth Corrective Exercise Center, Repubic of Korea
| | - Jongjin Bae
- Jeollanamdo Sports Council, Repubic of Korea
| | - Jung Chul Lee
- Department of Exercise Prescription, Dongshin University, Repubic of Korea
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Gu Z, Qiu G, Zhang Y. Genetic association analysis between polymorphisms of HAIRY-AND-ENHANCER-OF SPLIT-7 and congenital scoliosis. Int J Clin Exp Med 2015; 8:16714-16718. [PMID: 26629209 PMCID: PMC4659097] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2015] [Accepted: 08/06/2015] [Indexed: 06/05/2023]
Abstract
OBJECTIVE We explored the association between genetic polymorphisms of HAIRY-AND-ENHANCER-OF-SPLIT-7 (HES7) and congenital scoliosis (CS) in 246 cases of congenital scoliosis and non-congenital controls, in which the age and sex were fully matched. All participants were Chinese Han population. METHODS The genome DNA was extracted from peripheral blood sample. Two SNPs were defined for HES7 using NCBI database. The genotypes of two SNPs were determined by SNP stream UHT Genotyping System. RESULTS Polymorphisms were found in both SNPs and in accordance with Hardy-Weinberg equilibrium. For SNP rs3027279, the difference of two alleles (C and A) frequencies between CS and control groups Was statistically significant. Analysis also showed the difference of two genotypes (C/C and C/A) frequencies between two groups was significant (χ(2)=5.857, P<0.05). For SNP rs1442849, both difference of two alleles (A and G) frequencies and difference of three genotypes (G/G, G/A and AA) frequencies between two groups were shown statistically significant. CONCLUSIONS The unconditional Logistic regression analysis showed A/A genotype of SNP rsl442849 may be a protective factor (P=0.018<0.05, OR-0.35, 95% CI=0.17-0.74) for the onset of CS, while C/A genotype of SNP rs3027279 increased the onset risk (P=0.015<0.05, OR=1.93, 95% CI=1.13-3.30) of CS. Linkage disequilibrium analysis demonstrated the existence of linkage disequilibrium between the two SNPs.
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Affiliation(s)
- Zuchao Gu
- Department of Orthopaedics, The First People’s Hospital of ChengduChengdu 610071, Sichuan Province, P. R. China
| | - Guixing Qiu
- Department of Orthopaedics, Peking Union Medical College HospitalBeijing 10005, P. R. China
| | - Yu Zhang
- Department of Orthopaedics, The First People’s Hospital of ChengduChengdu 610071, Sichuan Province, P. R. China
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Abstract
STUDY DESIGN A hypothesis-driven study was conducted in a familial cohort to determine the potential association between variants within the TBX6 gene and Familial Idiopathic Scoliosis (FIS). OBJECTIVE To determine if variants within exons of the TBX6 gene segregate with the FIS phenotype within a sample of families with FIS. SUMMARY OF BACKGROUND DATA Idiopathic Scoliosis (IS) is a structural curvature of the spine whose underlying genetic etiology has not been established. IS has been reported to occur at a higher rate than expected in family members of individuals with congenital scoliosis (CS), suggesting that the two diseases might have a shared etiology. The TBX6 gene on chromosome 16p, essential to somite development, has been associated with CS in a Chinese population. Previous studies have identified linkage to this locus in families with FIS, and specifically with rs8060511, located in an intron of the TBX6 gene. METHODS Parent-offspring trios from 11 families (13 trios, 42 individuals) with FIS were selected for Sanger sequencing of the TBX6 gene. Trios were selected from a large population of families with FIS in which a genome-wide scan had resulted in linkage to 16p. RESULTS Sequencing analyses of the subset of families resulted in the identification of five coding variants. Three of the five variants were novel; the remaining two variants were previously characterized and account for 90% of the observed variants in these trios. In all cases, there was no correlation between transmission of the TBX6 variant allele and FIS phenotype. However, an analysis of regulatory markers in osteoblasts showed that rs8060511 is in a putative enhancer element. CONCLUSIONS Although this study did not identify any TBX6 coding variants that segregate with FIS, we identified a variant that is located in a potential TBX6 enhancer element. Therefore, further investigation of the region is needed.
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A modified surgical procedure for congenital kyphoscoliosis: selective partial hemivertebrectomy via posterior-only approach. Childs Nerv Syst 2015; 31:923-9. [PMID: 25681951 DOI: 10.1007/s00381-015-2630-9] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/02/2015] [Accepted: 02/03/2015] [Indexed: 10/24/2022]
Abstract
OBJECTIVES The study aims to assess the correction efficacy of selective partial hemivertebra excision via posterior-only approach for adolescent patients with congenital kyphoscoliosis. METHODS A total of 17 cases (10 M/7 F) were enrolled to this study, all of whom were fully segmented hemivertebra. The mean grade of Risser sign was 1.82 ± 1.07. The average time of follow-up was 20.12 ± 6.88 months. Patients were all treated with selective partial hemivertebra excision and instrumentation via posterior-only approach. The maximal coronal Cobb angle, segmental curves, and segmental kyphotic curves are measured before and after operation, and at the latest follow-up. The data was analyzed to evaluate the correction efficacy. RESULTS There were no postoperative infections and no neurological complications in all patients. The mean size of the segmental curve was 38.65 ± 5.35° before operation and 13.55 ± 1.82° after operation, with a mean correction of 25.10 ± 5.44°, which turned to 16.59 ± 2.14° at latest follow-up. The mean maximal coronal Cobb angle was 42.90 ± 7.96° before operation, 14.68 ± 2.44° after operation, and 17.50 ± 2.64° at the latest follow-up, giving a correction of 65.7%. The correction rate of segmental kyphotic curve was 72.6%, as the mean segmental kyphotic angle was 22.64 ± 6.74° before operation, 6.15 ± 2.50° after operation, and 6.9° at the latest follow-up, with a loss of 6.90 ± 2.68°. CONCLUSIONS For the patients whose congenital kyphoscoliosis are due to hemivertebrae, selective partial hemivertebra excision and instrumentation via posterior-only approach is recommended to those ranging from 9 to 14 years old, with the Risser sign range grades 0-3 and Cobb angles <60°. This individualized treatment can balance the growth on the two sides of the spine and achieve satisfactory therapeutic effect through removing excrescent growth center.
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Correlation between pelvic tilt and the sacro-femoral-pubic angle in patients with adolescent idiopathic scoliosis, patients with congenital scoliosis, and healthy individuals. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2015; 25:394-400. [DOI: 10.1007/s00586-015-3952-8] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/01/2014] [Revised: 04/09/2015] [Accepted: 04/10/2015] [Indexed: 10/23/2022]
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Li Z, Yu X, Shen J. Environmental aspects of congenital scoliosis. ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH INTERNATIONAL 2015; 22:5751-5755. [PMID: 25628116 DOI: 10.1007/s11356-015-4144-0] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/15/2014] [Accepted: 01/15/2015] [Indexed: 06/04/2023]
Abstract
Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.
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Affiliation(s)
- Zheng Li
- Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Peking Union Medical College, 100730, Beijing, China
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Bobyn JD, Little DG, Gray R, Schindeler A. Animal models of scoliosis. J Orthop Res 2015; 33:458-67. [PMID: 25492698 DOI: 10.1002/jor.22797] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/11/2014] [Accepted: 12/03/2014] [Indexed: 02/04/2023]
Abstract
Multiple techniques designed to induce scoliotic deformity have been applied across many animal species. We have undertaken a review of the literature regarding experimental models of scoliosis in animals to discuss their utility in comprehending disease aetiology and treatment. Models of scoliosis in animals can be broadly divided into quadrupedal and bipedal experiments. Quadrupedal models, in the absence of axial gravitation force, depend upon development of a mechanical asymmetry along the spine to initiate a scoliotic deformity. Bipedal models more accurately mimic human posture and consequently are subject to similar forces due to gravity, which have been long appreciated to be a contributing factor to the development of scoliosis. Many effective models of scoliosis in smaller animals have not been successfully translated to primates and humans. Though these models may not clarify the aetiology of human scoliosis, by providing a reliable and reproducible deformity in the spine they are a useful means with which to test interventions designed to correct and prevent deformity.
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Affiliation(s)
- Justin D Bobyn
- Orthopaedic Research & Biotechnology Unit, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, Australia
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Association of LMX1A genetic polymorphisms with susceptibility to congenital scoliosis in Chinese Han population. Spine (Phila Pa 1976) 2014; 39:1785-91. [PMID: 25099324 DOI: 10.1097/brs.0000000000000536] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
Abstract
STUDY DESIGN A genetic association study of single nucleotide polymorphisms (SNPs) for the LMX1A gene with congenital scoliosis (CS) in the Chinese Han population. OBJECTIVE To determine whether LMX1A genetic polymorphisms are associated with susceptibility to CS. SUMMARY OF BACKGROUND DATA CS is a lateral curvature of the spine due to congenital vertebral defects, whose exact genetic cause has not been well established. The LMX1A gene was suggested as a potential human candidate gene for CS. However, no genetic study of LMX1A in CS has ever been reported. METHODS We genotyped 13 SNPs of the LMX1A gene in 154 patients with CS and 144 controls with matched sex and age. After conducting the Hardy-Weinberg equilibrium test, the data of 13 SNPs were analyzed by the allelic and genotypic association with logistic regression analysis. Furthermore, the genotype-phenotype association and haplotype association analysis were also performed. RESULTS The 13 SNPs of the LMX1A gene met Hardy-Weinberg equilibrium in the controls, which was not in the cases. None of the allelic and genotypic frequencies of these SNPs showed significant difference between case and control groups (P > 0.05). However, the genotypic frequencies of rs1354510 and rs16841013 in the LMX1A gene were associated with CS predisposition in the unconditional logistic regression analysis (P = 0.02 and 0.018, respectively). Genotypic frequencies of 3 SNPs at rs6671290, rs1354510, and rs16841013 were found to exhibit significant differences between patients with CS with failure of formation and the healthy controls (P = 0.019, 0.007, and 0.006, respectively). Besides, in the model analysis by using unconditional logistic regression analysis, the optimized model for the 3 genotypic positive SNPs with failure of formation were rs6671290 (codominant; P = 0.025, Akaike information value = 316.6, Bayesian information criterion = 333.9), rs1354510 (overdominant; P = 0.0017, Akaike information value = 312.1, Bayesian information criterion = 325.9), and rsl6841013 (overdominant; P = 0.0016, Akaike information value = 311.1, Bayesian information criterion = 325), respectively. However, the haplotype distributions in the case group were not significantly different from those of the control group in the 3 haplotype blocks. CONCLUSION To our knowledge, this is the first study to identify that the SNPs of the LMX1A gene might be associated with the susceptibility to CS and different clinical phenotypes of CS in the Chinese Han population. LEVEL OF EVIDENCE 4.
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ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease. Nat Commun 2014; 5:4777. [PMID: 25182715 PMCID: PMC4155517 DOI: 10.1038/ncomms5777] [Citation(s) in RCA: 106] [Impact Index Per Article: 9.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/12/2013] [Accepted: 07/23/2014] [Indexed: 01/09/2023] Open
Abstract
Scoliosis is a complex genetic disorder of the musculoskeletal system, characterized by three-dimensional rotation of the spine. Curvatures caused by malformed vertebrae (congenital scoliosis (CS)) are apparent at birth. Spinal curvatures with no underlying vertebral abnormality (idiopathic scoliosis (IS)) most commonly manifest during adolescence. The genetic and biological mechanisms responsible for IS remain poorly understood due largely to limited experimental models. Here we describe zygotic ptk7 (Zptk7) mutant zebrafish, deficient in a critical regulator of Wnt signalling, as the first genetically defined developmental model of IS. We identify a novel sequence variant within a single IS patient that disrupts PTK7 function, consistent with a role for dysregulated Wnt activity in disease pathogenesis. Furthermore, we demonstrate that embryonic loss-of-gene function in maternal-zygotic ptk7 mutants (MZptk7) leads to vertebral anomalies associated with CS. Our data suggest novel molecular origins of, and genetic links between, congenital and idiopathic forms of disease. Scoliosis is a complex genetic disorder characterized by spinal curvature. Here, the authors present experimental zebrafish models of idiopathic and congenital scoliosis and suggest a role for dysregulated Wnt activity in scoliosis aetiology.
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Greenwood D, Bogar W. Congenital scoliosis in non-identical twins: case reports and literature review. THE JOURNAL OF THE CANADIAN CHIROPRACTIC ASSOCIATION 2014; 58:291-9. [PMID: 25202158 PMCID: PMC4139772] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Subscribe] [Scholar Register] [Indexed: 06/03/2023]
Abstract
Congenital scoliosis due to vertebral anomalies may occur in less than 0.1% of the population. Several different theories have been put forth in the literature to account for the etiology of congenital scoliosis and the vertebral anomalies which contribute to its development. The study of scoliosis in twins has contributed to the understanding of causative factors including genetics, environment and in utero events during embryologic development. Case reports of fraternal (non-identical) juvenile male twins with congenital scoliosis associated with differing congenital vertebral anomalies are presented. Both children were asymptomatic at the time of the initial consultation and showed no signs of neurologic compromise. Rapidly progressive, severe genetic scoliosis requires prudent observation and referral to a pediatric orthopedic surgeon to determine appropriate options for care and to screen for potentially life threatening disorders. Chiropractors may be seen as gatekeepers for scoliosis and a thorough understanding of appropriate standards of care is required.
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Affiliation(s)
- Dean Greenwood
- Private practice of Chiropractic, Vancouver Spine Care Centre 102-1678 W. Broadway, Vancouver, BC, Canada, V6J 1X6
| | - William Bogar
- Chief of Diagnostic Imaging and Residency, National University of Health Sciences, 200 East Roosevelt Rd, Lombard, Illinois, USA, 60146
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Key role for the transcriptional factor, osterix, in spine development. Spine J 2014; 14:683-94. [PMID: 24268393 DOI: 10.1016/j.spinee.2013.08.039] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/25/2012] [Revised: 08/06/2013] [Accepted: 08/23/2013] [Indexed: 02/03/2023]
Abstract
BACKGROUND CONTEXT Osterix (Osx) is an important transcriptional factor for bone formation; however, its role in spine development has not been determined. PURPOSE The goal of the present study is to observe the role of Osx in spine development. STUDY DESIGN/SETTING Deletion and overexpression of Osx were achieved in Osx knockout and transgenic mice, respectively, to determine the effect of Osx on spine development. METHODS With 2.3-kb type I collagen as a promoter, Osx were deleted in mice, and overexpression of Osx was obtained in Osx transgenic mice. Video, X-ray radiology, histology, tartrate-resistant acid phosphatase staining, Safranin O staining, and immunohistochemistry were used to assess the effect of Osx deletion and overexpression on spine development. This study was supported by National Science Foundation of China (81271935) and Foundation of State Key Laboratory of Trauma, Burns and combined injury (SKLZZ SKLZZ201124). No potential conflict of interest to disclose. RESULTS Overexpression of Osx did not have an obvious effect on spine development, whereas deletion of Osx led to severe spine deformities that included wedged vertebrae, spinal stenosis, and congenital scoliosis. Also, Osx deactivation resulted in shortened vertebrae and excessive bone volume in the vertebrae. TRAP staining showed that activity of osteoclasts decreased in Osx-null mice, and examination with TdT-mediated dUTP nick end labeling revealed that the apoptosis rate at the growth plate decreased significantly in Osx-null mice. Excessive formation of bone was positive for Safranin O staining. CONCLUSIONS Osx plays an important role in spine development, and its deactivation leads to severe spine deformities.
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Ultrastructure of Intervertebral Disc and Vertebra-Disc Junctions Zones as a Link in Etiopathogenesis of Idiopathic Scoliosis. ACTA ACUST UNITED AC 2014. [DOI: 10.1155/2014/850594] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
Abstract
Background Context. There is no general accepted theory on the etiology of idiopathic scoliosis (IS). An important role of the vertebrae endplate physes (VEPh) and intervertebral discs (IVD) in spinal curve progression is acknowledged, but ultrastructural mechanisms are not well understood. Purpose. To analyze the current literature on ultrastructural characteristics of VEPh and IVD in the context of IS etiology. Study Design/Setting. A literature review. Results. There is strong evidence for multifactorial etiology of IS. Early wedging of vertebra bodies is likely due to laterally directed appositional bone growth at the concave side, caused by a combination of increased cell proliferation at the vertebrae endplate and altered mechanical properties of the outer annulus fibrosus of the adjacent IVD. Genetic defects in bending proteins necessary for IVD lamellar organization underlie altered mechanical properties. Asymmetrical ligaments, muscular stretch, and spine instability may also play roles in curve formation. Conclusions. Development of a reliable, cost effective method for identifying patients at high risk for curve progression is needed and could lead to a paradigm shift in treatment options. Unnecessary anxiety, bracing, and radiation could potentially be minimized and high risk patient could receive surgery earlier, rendering better outcomes with fewer fused segments needed to mitigate curve progression.
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