Search results for "Contracture"
showing 3 items of 43 documents
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Effect of preoperative flexion contracture in the knee joint on the accuracy of digital templating before knee replacement surgery
2016
Abstract Introduction Flexion contracture in the knee joint before knee replacement surgery has been implicated as one of the factors that could affect the accuracy of digital templating. Aim The aim of the study was to detect the accuracy of digital templating in predicting the size of knee implants and to detect the effect of preoperative flexion contracture in the knee joint on the accuracy of digital templating. Material and methods The flexion contracture of the knee joint was measured in every patient prior to knee replacement surgery and digital templating of the knee joint was made in mediolateral (ML), anteroposterior (AP) and AP long leg views. The sizes of prosthetic components p…
Mucopolysaccharidoses and other lysosomal storage diseases.
2013
Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secon…