Assuntos
Fatores de Crescimento de Fibroblastos/genética , Deformidades Congênitas da Mão/diagnóstico por imagem , Ossos Metacarpais/anormalidades , Sequência de Bases , Criança , Análise Mutacional de DNA , Duplicação Gênica , Estudos de Associação Genética , Deformidades Congênitas da Mão/genética , Hemizigoto , Humanos , Masculino , Ossos Metacarpais/diagnóstico por imagem , Linhagem , Radiografia , Adulto JovemRESUMO
Amniotic band syndrome refers to the uncommon occurrence of a variety of congenital deformities, most probably due to foetal entanglement in strands ruptured from the amniotic sac. We present a rare case of an abdominal constriction band together with a short literature review.
Assuntos
Parede Abdominal/anormalidades , Síndrome de Bandas Amnióticas/patologia , Síndrome de Bandas Amnióticas/etiologia , Constrição Patológica/congênito , Feminino , Humanos , Recém-Nascido , Resultado do TratamentoRESUMO
Transforming growth factor beta 1 (TGF-beta 1) is a key fibrogenic cytokine that has been shown to stimulate fibroblast proliferation and extracellular matrix deposition and has been implicated in the pathogenesis of Dupuytren disease. Zf9 is a transcription factor that increases TGF-beta 1 expression in tissue. The authors previously demonstrated a lack of association between common TGF-beta 1 and TGF-beta 2 polymorphisms and Dupuytren disease. Therefore, Zf9 transcription factor represents an additional candidate susceptibility gene for investigating hereditary predisposition to Dupuytren disease. Dupuytren disease, or Dupuytren contracture, is a progressive and recurrent fibroproliferative disease of unknown etiology that affects the human hands. It is often a familial disorder affecting Northern European Caucasians. Genes implicated in the development of Dupuytren disease have not yet been found. Using a polymerase chain reaction-restriction fragment polymorphism method, the authors genotyped a novel single nucleotide polymorphism in the 3' untranslated region of the Zf9 gene. A case-control association study of 138 patients with Dupuytren disease versus 255 controls demonstrated a statistically significant difference in the genotype and allele frequencies between patients and controls for Zf9 gene polymorphism. Presence of the G allele versus the A allele is associated with an increased risk of developing Dupuytren disease (odds ratio, 1.9; 95 percent confidence interval, 1.2 to 2.9). The authors believe this to be the first report of a positive genetic association study in Dupuytren disease using single nucleotide polymorphisms.
