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1.
Clin Genet ; 87(5): 483-7, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-24749973

RESUMO

Dupuytren's disease (DD) is a progressive fibromatosis that causes the formation of nodules and cords in the palmar aponeurosis leading to flexion contracture of affected fingers. The etiopathogenesis is multifactorial with a strong genetic predisposition. It is the most frequent genetic disorder of connective tissues. We have collected clinical data from 736 unrelated individuals with DD who underwent surgical treatment from Germany and Switzerland. We evaluated a standardised questionnaire, assessed the importance of different risk factors and compared subgroups with and without positive family history. We found that family history clearly had the strongest influence on the age at first surgery compared to environmental factors, followed by male sex. Participants with a positive family history were on average 55.9 years of age at the first surgical intervention, 5.2 years younger than probands without known family history (p = 6.7 × 10(-8) ). The percentage of familial cases decreased with age of onset from 55% in the 40-49 years old to 17% at age 80 years or older. Further risk factors analysed were cigarettes, alcohol, diabetes, hypertension, and epilepsy. Our data pinpoint the importance of genetic susceptibility for DD, which has long been underestimated.


Assuntos
Contratura de Dupuytren/genética , Predisposição Genética para Doença , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Contratura de Dupuytren/epidemiologia , Contratura de Dupuytren/cirurgia , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco , Inquéritos e Questionários , Suíça/epidemiologia
2.
Z Orthop Unfall ; 152(2): 161-9, 2014 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-24760456

RESUMO

BACKGROUND: The hand represents one of the most complex joint mechanisms of the human body. The hand is also an important communication medium. The spectrum of today's hand injuries reaches from minor damage up to complex traumata with loss of several functional aspects. Enormous subsequent economic costs result. The therapeutic re-establishment of the equilibrium between maximum stress and the actual applied stress is the condition for a lifelong joint function. MATERIAL AND METHODS: A literature review about biomechanical wrist models was realised. The previous models found in the literature were systematically analysed as well as verifying their suitability for clinical use regarding pathological changes, therapy approaches and modelling/simulation approaches, respectively, of wrist injuries. RESULTS: The return of the wrist joint biomechanics to the normal condition is a key factor for a successful therapy. Furthermore, it is important for the re-establishment of an unimpaired joint function. Currently, there exist only simplified descriptions and models of the wrist joint, approximated by technical joints and furthermore, they are partially contradictory. Therefore, no uniform validated biomechanical wrist model exists as yet. CONCLUSION: Regarding the arising complex clinical problems, however, a valid biomechanical wrist joint model would be necessary as assistance, in order to improve the success of systematised therapies on the basis of computer-aided model-based planning and intervention.


Assuntos
Ossos do Carpo/fisiologia , Modelos Biológicos , Contração Muscular/fisiologia , Músculo Esquelético/fisiologia , Amplitude de Movimento Articular/fisiologia , Articulação do Punho/fisiologia , Simulação por Computador , Humanos
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