Genetics of Dupuytren's disease
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چکیده
It was first recognised in 1833 that there was an inherited predisposition to Dupuytren’s Disease, before DNA and genes were discovered (1). Since then, hand surgeons have continued to be fascinated by the nature and extent of this predisposition. As epidemiological methodology and molecular genetic techniques have developed, our understanding has advanced, such that the design of novel therapeutic interventions based on this knowledge is becoming a realistic possibility. In this section, we begin by briefly reviewing important principles and concepts of genetic inheritance. We then assess the evidence for a genetic predisposition to Dupuytren’s Disease. Next we consider the molecular genetic studies that have helped define the magnitude and nature of that genetic predisposition. Finally, we consider potential future developments in this fast developing field. Genetics of Dupuytren's disease The basics of genetic inheritance
منابع مشابه
Areview of Dupuytren\'s contracture in 43 hands: assessment of the nature and result after fasciectomy
Abstract Background: Dupuytren's disease is a fibroproliferative disorder of the palmar fascia that can result in disabling contractures of the digits. When function is impeded or deformity is disabling, surgical intervention can be considered, wherein a major problem is recurrence ( reported up to 74%). Although, the disease occurs predominantly in men of northern European, there are ver...
متن کاملCalcium-dependent signaling in Dupuytren's disease.
BACKGROUND Previous studies suggest that Dupuytren's disease is caused by fibroblast and myofibroblast contractility. Cell contractility in smooth muscle cells is caused by calcium-dependent and calcium-independent signaling mechanisms. In the calcium-dependent pathway, calcium/calmodulin activates myosin light chain kinase (MLCK). In this study, the effects of calcium/calmodulin inhibition wit...
متن کاملDupuytren's disease: personal factors and occupational exposure.
BACKGROUND The etiology of Dupuytren's disease is unknown, and the role of occupational exposure is still debated. Our objective was to study the association between occupational exposures, personal risk factors and Dupuytren's disease. METHODS In this cross-sectional survey, nine occupational physicians performed clinical examinations, focused on Dupuytren's disease, of 2,406 French male civ...
متن کاملGeneration of contractile force by cultured Dupuytren's disease and normal palmar fibroblasts.
Contractile fibroblasts are believed to be responsible for palmar fascia contracture in Dupuytren's Disease. An in vitro collagen lattice model was used to examine the contractile properties of Dupuytren's fibroblasts from 10 patients undergoing partial fasciectomy, and palmar fascia fibroblasts from 6 patients undergoing carpel tunnel release. Dupuytren's and palmar fascia fibroblasts cultured...
متن کاملAssociation of Morbus Ledderhose with Dupuytren's contracture.
BACKGROUND Fibromatous nodules in the sole of the foot are often called Ledderhose disease. It is a benign nodular formation in the plantar aponeurosis, typically at the distal medial border. A lump forms and it can be a few centimeters in diameter. It is frequently seen as an isolated disease, but a relationship to Dupuytren's has been noted in some patients. METHODS The study was a part of ...
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تاریخ انتشار 2017