George R. F. Murphy, Eleanor Feneck, James Paget, Branavan Sivakumar, Gill Smith, Malcolm P. O. Logan
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Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia
Radial dysplasia (RD) is a congenital upper limb birth defect that presents with changes to the upper limb anatomy, including a shortened or absent radius, bowed ulna, thumb malformations, a radially deviated hand and a range of muscle and tendon malformations, including absent or abnormally shaped muscle bundles. Current treatments to address wrist instability caused by a shortened or absent radius frequently require an initial soft tissue distraction intervention followed by a wrist stabilisation procedure. Following these surgical interventions, however, recurrence of the wrist deviation remains a common, long-term problem following treatment. The impact of the abnormal soft connective tissue (muscle and tendon) anatomy on the clinical presentation of RD and the complications following surgery are not understood. To address this, we have examined the muscle, fascia and the fascial irregular connective tissue (ICT) fibroblasts found within soft connective tissues, from RD patients. We show that ICT fibroblasts isolated from RD patients are functionally abnormal when compared to the same cells isolated from control patients and secrete a relatively disordered extracellular matrix (ECM). Furthermore, we show that ICT fibroblast dysfunction is a unifying feature found in RD patients, even when the RD clinical presentation is caused by distinct genetic syndromes.
期刊介绍:
Journal of Anatomy is an international peer-reviewed journal sponsored by the Anatomical Society. The journal publishes original papers, invited review articles and book reviews. Its main focus is to understand anatomy through an analysis of structure, function, development and evolution. Priority will be given to studies of that clearly articulate their relevance to the anatomical community. Focal areas include: experimental studies, contributions based on molecular and cell biology and on the application of modern imaging techniques and papers with novel methods or synthetic perspective on an anatomical system.
Studies that are essentially descriptive anatomy are appropriate only if they communicate clearly a broader functional or evolutionary significance. You must clearly state the broader implications of your work in the abstract.
We particularly welcome submissions in the following areas:
Cell biology and tissue architecture
Comparative functional morphology
Developmental biology
Evolutionary developmental biology
Evolutionary morphology
Functional human anatomy
Integrative vertebrate paleontology
Methodological innovations in anatomical research
Musculoskeletal system
Neuroanatomy and neurodegeneration
Significant advances in anatomical education.