Genética da neurofibromatose tipo 1

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen´s disease, is the most common form of Neurofibromatosis and account for 90% of all cases. The presence of multiple neurofibromas is one of the main clinical manifestations of NF1. Other clinical characteristics include: café au lait spots, inguinal and axillary ephelides and Lisch nodules. NF1 is an autosomal dominant disorder with a complete penetrance and extreme clinical variability, even in intrafamilial cases. The gene complexity and the diversity of mutations in NF1 gene make the genotype-phenotype correlations very difficult. Although many different mutations have been described, information about genotype-phenotype correlations are still limited. Until now, the only well established genotype-phenotype correlation, reported in many studies, is the association of large deletions (~1.5 mb), involving NF1 gene and contiguous DNA, leading to a more severe phenotype. The aim of this study is to review the literature about the current knowledge of genetic alterations in NF1.A Neurofibromatose tipo 1 (NF1), também conhecida como Doença de von Recklinghausen, é a forma mais freqüente da Neurofibroatose, correspondendo a 90% de todos os casos. A presença de múltiplos neurofibromas constitui uma das principais manifestações clínicas da NF1. Outras características clínicas freqüentemente observadas na NF1 são: manchas café-com-leite, efélides inguinais e axilares e nódulos de Lisch. A NF1 é uma doença autossômica dominante, completamente penetrante e com marcante variabilidade, mesmo nos casos intrafamiliares. A complexidade e a diversidade das mutações do gene NF1 fazem as correlações genótipo-fenótipo muito difíceis. Embora várias mutações diferentes já tenham sido relatadas, ainda são limitadas as informações sobre a correlação genótipo-fenótipo nos pacientes com NF1. Até o momento, a única correlação genótipo-fenótipo que está bem estabelecida e já foi relatada em vários estudos é a associação de grandes deleções (~1,5 mb), envolvendo o gene NF1 e o DNA circunvizinho, que levam a um fenótipo mais grave. O objetivo deste trabalho é fazer uma revisão da literatura sobre o conhecimento atual das alterações genéticas na NF1

DENGUE DURING PREGNANCY: ASSOCIATION WITH LOW BIRTH WEIGHT AND PREMATURITY

The aim of this study was to evaluate the effects of dengue virus infection during pregnancy and its correlation with low birth weight, prematurity, and asphyxia. A non-concurrent cohort study reveals the association of dengue during pregnancy with prematurity and low birth weight, when birth occurred during the maternal-fetal viremia period (p = 0.016 and p < 0.0001, respectively)

Complicações cardiovasculares em criança com insuficiência renal crônica Cardiovascular complications in a child with chronic renal failure

Relatamos o caso de uma criança de 11 anos, com doença renal crônica e hiperparatireoidismo secundário. Havia sido tratada com diálise, calcitriol, carbonato de cálcio e, na evolução, apresentou dislipidemia e trombos calcificados em vários vasos e órgãos. O exame anatomopatológico revelou necrose cerebral isquêmica, calcificação nas artérias coronárias e infarto do miocárdio.We describe a case 11 year-old boy, in which a chronic renal disease and secondary hyperparathyroidism was treated by dyalisis, calcitriol, and calcium supplementation. He developed dyslipidemia, calcified lesions with thrombus formation in several organs and vessels. Necropsy findings showed ischemic cerebral necrosis, calcification in arteries including coronaries, and myocardial infarction

Perinatal Transmission of Dengue: A Report of 7 Cases

Submitted by sandra infurna ([email protected]) on 2016-01-14T14:42:11Z No. of bitstreams: 1 ritamaria_nogueira_ertal_IOC_2013.pdf: 492022 bytes, checksum: 50901de0fc03a17591fd9dc86da7d6ac (MD5)Approved for entry into archive by sandra infurna ([email protected]) on 2016-01-14T14:54:52Z (GMT) No. of bitstreams: 1 ritamaria_nogueira_ertal_IOC_2013.pdf: 492022 bytes, checksum: 50901de0fc03a17591fd9dc86da7d6ac (MD5)Made available in DSpace on 2016-01-14T14:54:52Z (GMT). No. of bitstreams: 1 ritamaria_nogueira_ertal_IOC_2013.pdf: 492022 bytes, checksum: 50901de0fc03a17591fd9dc86da7d6ac (MD5) Previous issue date: 2013Universidade Federal Fluminense. Departamento Materno-Infantil. Niterói, RJ, Brasil.Universidade Federal Fluminense. Departamento de Patologia. Niterói, Rj, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto de Pesquisa Clínica Evandro Chagas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Flavivírus. Rio de Janeiro, RJ, Brasil.Perinatal transmission of dengue virus was confirmed by the evidence of virus in fetal tissue, newborn serum, and placenta of pregnant women. Abortion, several different clinical findings, and placental inflammatory findings were documented. No association was seen between severity of maternal dengue and disease of the newborn

Dengue infection in pregnancy and its impact on the placenta

A histopathological and immunohistochemical study was conducted in placental tissues and retained products of conception from 24 patients with confirmed dengue infection during pregnancy. The immunohistochemical assay was positive for dengue virus in 19 placental and three ovular remnants analyzed. The light microscopic findings were signs of hypoxia, choriodeciduitis, deciduitis and intervillositis and the viral antigens were found in cytoplasmic of the trophoblast, villous stroma and decidua. Our results suggest that immunohistochemistry could be used as a laboratory confirmation method for dengue in pregnant women, especially in endemic areas when embedded material is the only material available

Dengue during pregnancy: association with low birth weight and prematurity

Submitted by sandra infurna ([email protected]) on 2016-02-29T13:01:40Z No. of bitstreams: 1 ritamaria_nogueira_etal_IOC_2016.pdf: 75148 bytes, checksum: 40e995e45aa7d4a310cd8ee56a38c4f2 (MD5)Approved for entry into archive by sandra infurna ([email protected]) on 2016-02-29T13:21:19Z (GMT) No. of bitstreams: 1 ritamaria_nogueira_etal_IOC_2016.pdf: 75148 bytes, checksum: 40e995e45aa7d4a310cd8ee56a38c4f2 (MD5)Made available in DSpace on 2016-02-29T13:21:19Z (GMT). No. of bitstreams: 1 ritamaria_nogueira_etal_IOC_2016.pdf: 75148 bytes, checksum: 40e995e45aa7d4a310cd8ee56a38c4f2 (MD5) Previous issue date: 2016Universidade Federal Fluminense. Departamento Materno-Infantil. Niterói, RJ, Brasil.Universidade Federal Fluminense. Departamento de Patologia. Niterói, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ,Brasil.Universidade Federal Fluminense. Instituto de Matemática e Estatística. Departamento de Estatística. Instituto de Matemática. Niterói, RJ, Brasil.Universidade Federal Fluminense. Faculdade de Medicina. Niterói, RJ, Brasil.Universidade Federal Fluminense. Faculdade de Medicina. Niterói, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Flavivírus. Rio de Janeiro, RJ, Brasil.The aim of this study was to evaluate the effects of dengue virus infection during pregnancy and its correlation with low birth weight, prematurity, and asphyxia. A non-concurrent cohort study reveals the association of dengue during pregnancy with prematurity and low birth weight, when birth occurred during the maternal-fetal viremia period (p = 0.016 and p < 0.0001, respectively)