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In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.
Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- spinal curvatures --- scoliosis --- idiopathic --- DNA methylation --- pyrosequencing --- estrogen receptor 1 --- ESR1 --- scoliosis progression --- adolescent idiopathic scoliosis --- idiopathic scoliosis --- exome sequencing --- spine --- polygenic --- variants --- musculoskeletal disease --- cytoskeleton --- extracellular matrix --- contracture --- arthrogryposis --- congenital --- POC5 --- cilia --- genetics --- spine deformity --- genetic predisposition --- complex trait --- model animal --- genome wide association study --- genetic linkage study --- Amyoplasia --- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) --- CNV (copy number variant) --- DA (distal arthrogryposis) --- IPA (ingenuity pathway analysis) --- HPO (human phenotype ontology) --- akinesia --- MYOD --- IGF2 --- FGFR1 (Fibroblast growth factor receptor 1) --- genetic variations --- congenital scoliosis --- monozygotic twin --- epigenome-wide association study --- bone --- discordant --- curve severity --- differentially methylated region --- congenital vertebral malformation --- copy number variant --- CNV --- CHRNG --- distal arthrogryposis type 8 --- Escobar --- multiple pterygium syndrome --- MYH3 --- protein tyrosine kinase 7 (PTK7) --- whole exome sequencing --- n/a
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This book contains research articles on the advances in the aetiology of idiopathic scoliosis (IS), the spinal growth related to the implementation of growth modulation for the surgical treatment of early-onset IS, the non-surgical treatment of IS using Physiotheraputic Scoliosis Specific Exercises, and braces. Additionally, it focuses on issues related to surgical treatment, issues related to body posture and the quality of life of this sensitive group of people. The high quality of published papers in this Special Issue of the JCM serve these objectives.
Medicine --- idiopathic scoliosis --- health-related quality of life --- cultural adaptation --- Italian Spine Youth Quality of Life Questionnaire --- systematic review --- meta-analysis --- adolescent idiopathic scoliosis --- brace therapy --- brace concepts --- rigid brace --- night time brace --- ring apophysis --- maturation --- ossification --- fusion --- scoliosis --- nighttime orthotic treatment --- surgery --- quality of life --- paraspinal muscles --- cross-sectional area --- posterior approach --- computed tomography --- Italian spine youth quality of life questionnaire --- SRS-22 --- 22q11.2 deletion syndrome --- human model --- neuromuscular scoliosis --- radiography --- MRI --- curve morphology --- intraspinal anomaly --- body height --- pulmonary function test --- Cobb angle --- iTRAQ --- α-actin --- progressive --- differentially expressed proteins --- bracing --- physiotherapeutic scoliosis-specific exercise --- physical activity --- adherence --- spinal appearance --- shared decision-making --- personalised approach --- sclerostin --- osteocytes --- β-catenin --- Wnt signaling pathway --- scoliometer --- truncal asymmetry --- lateral spinal profile --- surface topography --- aetiology --- spinal deformities --- pathobiomechanics --- follow-up study --- Rett syndrome --- motor skills --- telerehabilitation --- physical therapy modalities --- home exercise program --- neurodynamic functions --- assessment --- pain --- treatment --- early onset scoliosis --- non-operative treatment --- body posture --- sports activity --- corrective exercises --- digital photography --- n/a
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Musculoskeletal disorders are a serious burden for patients and modern society. In Europe alone, 100,000,000 individuals suffer from musculoskeletal disorders and 40,000,000 affected workers cause losses due to work absence and a productivity loss of EUR 12 billion per year. Worldwide, musculoskeletal disorders are the second most common cause of pain and disability. Adequate diagnosis and early initiation of treatment are key elements in the care for patients suffering from musculoskeletal disorders, yet, for many musculoskeletal disorders, diagnostic tests lack appropriate accuracy. Treatment of musculoskeletal disorders is challenging as the mechanisms causing the complaints and mechanisms of action for the available treatment options are largely unknown. Moreover, these mechanisms and effectiveness might depend on specific patients’ characteristics and call for personalized strategies. This Special Issue invited researchers in the field to contribute to the state of the art in the diagnosis and treatment of musculoskeletal disorders. As many different healthcare professionals are involved in the diagnosis and treatment of musculoskeletal disorders, the Special Issue published high-quality studies from different areas of healthcare. Studies reporting on original research (e.g., randomized controlled trials, cohort studies), but also systematic literature reviews and meta-analyses within the scope of the Special Issue were considered. Given recent debates around the effectiveness of surgical interventions for musculoskeletal disorders and concomitant risks for adverse side-effects, intervention studies on non-surgical treatment options were prioritized.
osteoarthritis --- hip --- pain --- footwear --- case-crossover study --- musculoskeletal disorders --- therapeutic injections --- competence --- knee osteoarthritis --- radiography --- general practitioner --- secondary care physician --- diagnosis --- patellofemoral pain --- patellofemoral osteoarthritis --- pharmaceuticals --- nutraceuticals --- surgery --- long-term results --- adolescent idiopathic scoliosis --- skip pedicle fixation --- 10 years --- posterior fusion --- type 2 diabetes --- physical examination --- ultrasound --- shoulder pain --- adhesive capsulitis --- subacromial pain syndrome --- knee --- ACL --- injury --- KOOS --- symptoms --- knee pain --- early OA --- illness perceptions --- self-management strategies --- cross-sectional study --- survey --- femoral intercondylar notch --- knee anatomy --- ACL prevention --- ACL risk factors --- risk factor --- dance --- hypermobility --- lumbar radicular pain --- clinical practice guidelines --- AGREE II --- treatment
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Musculoskeletal disorders are a serious burden for patients and modern society. In Europe alone, 100,000,000 individuals suffer from musculoskeletal disorders and 40,000,000 affected workers cause losses due to work absence and a productivity loss of EUR 12 billion per year. Worldwide, musculoskeletal disorders are the second most common cause of pain and disability. Adequate diagnosis and early initiation of treatment are key elements in the care for patients suffering from musculoskeletal disorders, yet, for many musculoskeletal disorders, diagnostic tests lack appropriate accuracy. Treatment of musculoskeletal disorders is challenging as the mechanisms causing the complaints and mechanisms of action for the available treatment options are largely unknown. Moreover, these mechanisms and effectiveness might depend on specific patients’ characteristics and call for personalized strategies. This Special Issue invited researchers in the field to contribute to the state of the art in the diagnosis and treatment of musculoskeletal disorders. As many different healthcare professionals are involved in the diagnosis and treatment of musculoskeletal disorders, the Special Issue published high-quality studies from different areas of healthcare. Studies reporting on original research (e.g., randomized controlled trials, cohort studies), but also systematic literature reviews and meta-analyses within the scope of the Special Issue were considered. Given recent debates around the effectiveness of surgical interventions for musculoskeletal disorders and concomitant risks for adverse side-effects, intervention studies on non-surgical treatment options were prioritized.
Medicine --- osteoarthritis --- hip --- pain --- footwear --- case-crossover study --- musculoskeletal disorders --- therapeutic injections --- competence --- knee osteoarthritis --- radiography --- general practitioner --- secondary care physician --- diagnosis --- patellofemoral pain --- patellofemoral osteoarthritis --- pharmaceuticals --- nutraceuticals --- surgery --- long-term results --- adolescent idiopathic scoliosis --- skip pedicle fixation --- 10 years --- posterior fusion --- type 2 diabetes --- physical examination --- ultrasound --- shoulder pain --- adhesive capsulitis --- subacromial pain syndrome --- knee --- ACL --- injury --- KOOS --- symptoms --- knee pain --- early OA --- illness perceptions --- self-management strategies --- cross-sectional study --- survey --- femoral intercondylar notch --- knee anatomy --- ACL prevention --- ACL risk factors --- risk factor --- dance --- hypermobility --- lumbar radicular pain --- clinical practice guidelines --- AGREE II --- treatment --- osteoarthritis --- hip --- pain --- footwear --- case-crossover study --- musculoskeletal disorders --- therapeutic injections --- competence --- knee osteoarthritis --- radiography --- general practitioner --- secondary care physician --- diagnosis --- patellofemoral pain --- patellofemoral osteoarthritis --- pharmaceuticals --- nutraceuticals --- surgery --- long-term results --- adolescent idiopathic scoliosis --- skip pedicle fixation --- 10 years --- posterior fusion --- type 2 diabetes --- physical examination --- ultrasound --- shoulder pain --- adhesive capsulitis --- subacromial pain syndrome --- knee --- ACL --- injury --- KOOS --- symptoms --- knee pain --- early OA --- illness perceptions --- self-management strategies --- cross-sectional study --- survey --- femoral intercondylar notch --- knee anatomy --- ACL prevention --- ACL risk factors --- risk factor --- dance --- hypermobility --- lumbar radicular pain --- clinical practice guidelines --- AGREE II --- treatment
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