4 documents found, page 1 of 1
Increased insulin sensitivity in individuals with neurofibromatosis type 1
Martins,Aline Stangherlin; Jansen,Ann Kristine; Rodrigues,Luiz Oswaldo Carneiro; Matos,Camila Maria; Souza,Marcio Leandro RibeiroABSTRACT Objects To compare insulin resistance (IR) and metabolic aspects of patients with neurofibromatosis type 1 (NF1) and individuals without the disease. Subjects and methods Forty patients with NF1 were matched by sex, age, and body mass index (BMI) to 40 controls from the community. Blood samples were collected for biochemical assessment. Homeostasis model assessment adiponectin (HOMA-AD), Homeostasis mo...
Sequenciamento total do exoma como ferramenta de diagnóstico de acidose tubular...
Pereira,Paula Cristina Barros; Melo,Flávia Medeiros; De Marco,Luiz Armando Cunha; Oliveira,Eduardo Araújo; Miranda,Débora MarquesResumo Objetivo A acidose tubular renal distal (ATRd) é caracterizada por acidose metabólica devido à excreção renal de ácido prejudicada. O objetivo deste artigo é apresentar o diagnóstico genético de quatro crianças com ATRd com uso do sequenciamento total do exoma. Métodos Selecionamos duas famílias não relacionadas, quatro crianças com ATRd e seus pais, para fazer o sequenciamento total do exoma. A audição ...
Study of the association between the BMP4 gene and congenital anomalies of the ...
Reis,Geisilaine Soares dos; Silva,Ana Cristina Simões e; Freitas,Izabella Silva; Heilbuth,Thiago Ramos; Marco,Luiz Armando de; Oliveira,Eduardo AraújoOBJECTIVE: To determine the frequency of different phenotypes for congenital anomalies of the kidney and urinary tract (CAKUT) in a Brazilian sample, and to evaluate the association between the CAKUT phenotypes and the BMP4 gene. METHODS: In this study, 457 Brazilian individuals were analyzed in an attempt to establish the association between the BMP4 gene and the CAKUT diagnosis. A case-control sample was geno...
Development of a computerised version of the Children's Gambling Task for the e...
Mata,Fernanda; Sallum,Isabela; Moraes,Paulo Henrique Paiva de; Miranda,Débora Marques; Malloy-Diniz,Leandro FernandesDespite the large number of instruments developed to assess the more purely cognitive executive functions in Brazilian children, few studies have developed instruments for the assessment of the most motivational components of these functions. The primary aim of this study was to develop a computerised version of the Children's Gambling Task (CGT) to assess affective decision-making in preschoolers. The present ...