MARCELO LUIZ CAMPOS VIEIRA
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina - Médico
13 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 13
bookPart Ecocardiograma na emergência(2018) SOEIRO, Maria Carolina Feres de Almeida; HOTTA, Viviane Tiemi; VIEIRA, Marcelo Luiz Campos; JúNIOR, Wilson Mathias- Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)(2012) QUAIO, C. R. D. C.; GRINBERG, H.; VIEIRA, M. L. C.; PAULA, A. C.; LEAL, G. N.; GOMY, I.; LEISTNER-SEGAL, S.; GIUGLIANI, R.; BERTOLA, D. R.; KIM, C. A.Hunter syndrome, or Mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The phenotypic spectrum varies from severe to attenuated clinical forms. We report a large Brazilian family with 16 affected individuals exhibiting a very attenuated form of MPS II. Fourteen female carriers were also identified. Twelve affected male patients, whose ages ranged from 1 to 35 years, were examined. Molecular analysis showed a novel missense mutation (p.A77D) in the IDS gene, confirming the diagnosis. Nine of the family members presented some degree of heart damage, though only the proband became symptomatic and required heart transplantation. One 19-year-old adult and 1-year-old twin boys each had a normal echocardiogram. Short stature was found in two adults while macrocephaly was found in one; the remaining adults had anthropometric measures within normal range. All affected adults had normal cognitive development and were able to perform normal daily activities, except one who had mild learning disability. Two patients died due to natural causes beyond 70 years of age. The female carriers did not present any signs of disease. In this large family with a mild form of MPS II and variable degree of clinical manifestations, it is noteworthy that several affected individuals have remained asymptomatic even at advanced age and even without enzyme replacement therapy.
bookPart Ecocardiografia na Terapia de Ressincronização Cardíaca(2015) HOTTA, Viviane Tiemi; BARRETTO, Rodrigo Bellio de M.; VIEIRA, Marcelo Luiz CamposbookPart Doppler Tecidual: Quando e Como Utilizar(2015) HOTTA, Viviane Tiemi; RODRIGUES, Ana Clara Tude; VIEIRA, Marcelo Luiz CamposbookPart Abordagem hemodinâmica por meio da ecocardiografia(2016) VIEIRA, Marcelo Luiz Campos; HOTTA, Viviane Tiemi; MORHY, Samira SaadybookPart Ecocardiograma(2016) SOEIRO, Maria Carolina Feres de Almeida; VIEIRA, Marcelo Luiz Campos; JúNIOR, Wilson MathiasbookPart Ecocardiograma na emergência(2015) SOEIRO, Maria Carolina Feres de Almeida; HOTTA, Viviane Tiemi; VIEIRA, Marcelo Luiz Campos; MATHIAS JR., WilsonbookPart Ecocardiograma na emergência(2015) SOEIRO, Maria Carolina Feres de Almeida; HOTTA, Viviane Tiemi; VIEIRA, Marcelo Luiz Campos; MATHIAS JR., WilsonbookPart Avaliação Ecocardiográfica Tridimensional da Valva Mitral(2015) PARDI, Mirian Magalhães; VIEIRA, Marcelo Luiz CamposbookPart Tamponamento cardíaco(2015) BARROSO, Ruth Carolina Nascimento Lima; ISSA, Victor; VIEIRA, Marcelo Luiz Campos