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/epidemiologiaRESUMO
The in vitro production and secretion of the immunoglobulins IgM, IgG, Kappa and lambda light chains by peripheral blood lymphocytes from chronic lymphocytic leukaemia patients was examined. The ELISA system was employed to quantitate the immunoglobulins secreted in the culture supernatants. Lipopolysaccharide and phorbol esters with CA++ ionophore were used as lymphocyte stimulators. The maturation of cultured lymphocytes was demonstrated by synthesis of cytoplasmic immunoglobulins and Ig secretions typical for plasma cells. In one case an isotype switch C mu for C gamma was observed.