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Measurements of CFTR-Mediated Cl- Secretion in Human Rectal Biopsies Constitute...
Sousa, Marisa; Servidoni, Maria F.; Vinagre, Adriana M.; Ramalho, Anabela S.; Bonadia, Luciana C.; Felício, Verónica; Ribeiro, Maria A..BACKGROUND: Cystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respiratory symptoms, but there is variable organ involvement thus causing diagnostic dilemmas, especially for non-classic cases. METHODOLOGY/PRINCIPAL FINDINGS: To furth...
Fibrose cística em um centro de referência no Brasil: características clínicas ...
Alvarez,Alfonso E.; Ribeiro,Antônio F.; Hessel,Gabriel; Bertuzzo,Carmen S.; Ribeiro,José D.OBJETIVO: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pelo escore de Shwachman. MÉTODOS: Estudo descritivo, retrospectivo e de corte transversal dos pacientes fibrocísticos acompanhados na UNICAMP, que tiveram atendimento entre jul...
Molecular diagnosis of Huntington disease in Brazilian patients
LIMA E SILVA,TEREZA C.; SERRA,HELIANE GUERRA; BERTUZZO,CARMEN S.; LOPES-CENDES,ISCIAHuntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped ...
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