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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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The rapid aging of populations in developed countries since the 2000s has placed increasing attention on the issue of musculoskeletal disorders in elderly patients. Notably, spinal disorders not only restrict the social activities of elderly patients, but they also lead to economic loss for society. “Current Advances in Spinal Diseases of Elderly Patients” is a topical collection of articles about current perspectives on diagnosis and treatment of spinal disorders including current surgical strategies. This Special Issue covers a broad range of issues, ranging from managing refractory states such as severe osteoporosis, spinal deformity, ossification of the spinal ligaments, and multiple arthropathy to managing lifestyle-related spinal diseases during the COVID-19 pandemic in elderly populations. We hope that the readers of this Special Issue find the contents interesting.
Medicine --- Pharmacology --- spinal metastasis --- non-small cell lung cancer --- decompression --- survival --- prognosis --- epidermal growth factor receptor --- Uno’s C-index --- New England Spinal Metastasis Score --- trunk muscle --- bioelectrical impedance analysis --- MRI --- back muscle strength --- epidemiological study --- osteoporosis --- osteopenia --- locomotive syndrome --- two-step test --- frailty --- cervical myelopathy --- hand grip strength --- falls --- postoperative --- human nonmercaptalbumin --- reduced albumin --- oxidative stress --- spinal sagittal alignment --- low back pain --- health-related quality of life --- conus medullaris --- height --- pelvic incidence --- magnetic resonance imaging --- healthy volunteers --- n/a --- gender differences --- spine arthrodesis --- spinal fusion --- spine --- deformity --- direct lateral corpectomy --- expandable cage --- global alignment --- local kyphosis --- osteoporosis vertebral fracture --- cervical spine --- clinical findings --- computed tomography --- diffuse idiopathic skeletal hyperostosis --- ossification of the posterior longitudinal ligament --- pain --- patient-reported outcomes --- whole spine --- prevalence --- influence factor --- spinal alignment --- aging --- total knee arthroplasty --- lumbar lordosis --- sagittal spinopelvic parameters --- clinical outcome --- cervical ossification of the posterior longitudinal ligament --- whole-spine computed tomography --- grading system --- multicenter study --- adult spinal deformity (ASD) --- posterior lumbar interbody fusion --- lateral lumbar interbody fusion --- sagittal correction --- perioperative complications --- surgical invasiveness --- degenerative adult deformity --- anterior cervical corpectomy and fusion --- hybrid fusion --- implant failure --- graft subsidence --- complications --- perioperative outcomes --- fusion rate --- segmental paralysis --- mechanical stability --- resident cohort --- resident registry --- spinal balance --- gender --- adult spine --- osteoporotic vertebral fracture --- residual pain --- visual analog scale --- quality of life --- adult spine deformity --- adult spine fusion --- deformity correction --- perioperative parameters --- ODI --- VAS --- disability --- T1 slope --- C2-7 SVA --- C2-7 angle --- back pain --- brace --- spine orthoses --- lumbar support --- spine support --- COVID-19 --- pandemic --- spinal disorder --- elderly --- exercise habit --- female --- activities of daily living --- nutrition --- health checkup data --- full-endoscopic lumbar discectomy --- recurrent herniation --- early recurrence --- Uno's C-index
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The rapid aging of populations in developed countries since the 2000s has placed increasing attention on the issue of musculoskeletal disorders in elderly patients. Notably, spinal disorders not only restrict the social activities of elderly patients, but they also lead to economic loss for society. “Current Advances in Spinal Diseases of Elderly Patients” is a topical collection of articles about current perspectives on diagnosis and treatment of spinal disorders including current surgical strategies. This Special Issue covers a broad range of issues, ranging from managing refractory states such as severe osteoporosis, spinal deformity, ossification of the spinal ligaments, and multiple arthropathy to managing lifestyle-related spinal diseases during the COVID-19 pandemic in elderly populations. We hope that the readers of this Special Issue find the contents interesting.
spinal metastasis --- non-small cell lung cancer --- decompression --- survival --- prognosis --- epidermal growth factor receptor --- Uno’s C-index --- New England Spinal Metastasis Score --- trunk muscle --- bioelectrical impedance analysis --- MRI --- back muscle strength --- epidemiological study --- osteoporosis --- osteopenia --- locomotive syndrome --- two-step test --- frailty --- cervical myelopathy --- hand grip strength --- falls --- postoperative --- human nonmercaptalbumin --- reduced albumin --- oxidative stress --- spinal sagittal alignment --- low back pain --- health-related quality of life --- conus medullaris --- height --- pelvic incidence --- magnetic resonance imaging --- healthy volunteers --- n/a --- gender differences --- spine arthrodesis --- spinal fusion --- spine --- deformity --- direct lateral corpectomy --- expandable cage --- global alignment --- local kyphosis --- osteoporosis vertebral fracture --- cervical spine --- clinical findings --- computed tomography --- diffuse idiopathic skeletal hyperostosis --- ossification of the posterior longitudinal ligament --- pain --- patient-reported outcomes --- whole spine --- prevalence --- influence factor --- spinal alignment --- aging --- total knee arthroplasty --- lumbar lordosis --- sagittal spinopelvic parameters --- clinical outcome --- cervical ossification of the posterior longitudinal ligament --- whole-spine computed tomography --- grading system --- multicenter study --- adult spinal deformity (ASD) --- posterior lumbar interbody fusion --- lateral lumbar interbody fusion --- sagittal correction --- perioperative complications --- surgical invasiveness --- degenerative adult deformity --- anterior cervical corpectomy and fusion --- hybrid fusion --- implant failure --- graft subsidence --- complications --- perioperative outcomes --- fusion rate --- segmental paralysis --- mechanical stability --- resident cohort --- resident registry --- spinal balance --- gender --- adult spine --- osteoporotic vertebral fracture --- residual pain --- visual analog scale --- quality of life --- adult spine deformity --- adult spine fusion --- deformity correction --- perioperative parameters --- ODI --- VAS --- disability --- T1 slope --- C2-7 SVA --- C2-7 angle --- back pain --- brace --- spine orthoses --- lumbar support --- spine support --- COVID-19 --- pandemic --- spinal disorder --- elderly --- exercise habit --- female --- activities of daily living --- nutrition --- health checkup data --- full-endoscopic lumbar discectomy --- recurrent herniation --- early recurrence --- Uno's C-index
Choose an application
The rapid aging of populations in developed countries since the 2000s has placed increasing attention on the issue of musculoskeletal disorders in elderly patients. Notably, spinal disorders not only restrict the social activities of elderly patients, but they also lead to economic loss for society. “Current Advances in Spinal Diseases of Elderly Patients” is a topical collection of articles about current perspectives on diagnosis and treatment of spinal disorders including current surgical strategies. This Special Issue covers a broad range of issues, ranging from managing refractory states such as severe osteoporosis, spinal deformity, ossification of the spinal ligaments, and multiple arthropathy to managing lifestyle-related spinal diseases during the COVID-19 pandemic in elderly populations. We hope that the readers of this Special Issue find the contents interesting.
Medicine --- Pharmacology --- spinal metastasis --- non-small cell lung cancer --- decompression --- survival --- prognosis --- epidermal growth factor receptor --- Uno's C-index --- New England Spinal Metastasis Score --- trunk muscle --- bioelectrical impedance analysis --- MRI --- back muscle strength --- epidemiological study --- osteoporosis --- osteopenia --- locomotive syndrome --- two-step test --- frailty --- cervical myelopathy --- hand grip strength --- falls --- postoperative --- human nonmercaptalbumin --- reduced albumin --- oxidative stress --- spinal sagittal alignment --- low back pain --- health-related quality of life --- conus medullaris --- height --- pelvic incidence --- magnetic resonance imaging --- healthy volunteers --- gender differences --- spine arthrodesis --- spinal fusion --- spine --- deformity --- direct lateral corpectomy --- expandable cage --- global alignment --- local kyphosis --- osteoporosis vertebral fracture --- cervical spine --- clinical findings --- computed tomography --- diffuse idiopathic skeletal hyperostosis --- ossification of the posterior longitudinal ligament --- pain --- patient-reported outcomes --- whole spine --- prevalence --- influence factor --- spinal alignment --- aging --- total knee arthroplasty --- lumbar lordosis --- sagittal spinopelvic parameters --- clinical outcome --- cervical ossification of the posterior longitudinal ligament --- whole-spine computed tomography --- grading system --- multicenter study --- adult spinal deformity (ASD) --- posterior lumbar interbody fusion --- lateral lumbar interbody fusion --- sagittal correction --- perioperative complications --- surgical invasiveness --- degenerative adult deformity --- anterior cervical corpectomy and fusion --- hybrid fusion --- implant failure --- graft subsidence --- complications --- perioperative outcomes --- fusion rate --- segmental paralysis --- mechanical stability --- resident cohort --- resident registry --- spinal balance --- gender --- adult spine --- osteoporotic vertebral fracture --- residual pain --- visual analog scale --- quality of life --- adult spine deformity --- adult spine fusion --- deformity correction --- perioperative parameters --- ODI --- VAS --- disability --- T1 slope --- C2-7 SVA --- C2-7 angle --- back pain --- brace --- spine orthoses --- lumbar support --- spine support --- COVID-19 --- pandemic --- spinal disorder --- elderly --- exercise habit --- female --- activities of daily living --- nutrition --- health checkup data --- full-endoscopic lumbar discectomy --- recurrent herniation --- early recurrence
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