RESUMO
Dysferlin protein is expressed in peripheral blood monocytes. The genomic analysis of the DYSF gene has proved to be time consuming because it has 55 exons. We designed a mutational screening strategy based on cDNA from monocytes to find out whether the mutational analysis could be performed in mRNA from a source less invasive than the muscle biopsy. We studied 34 patients from 23 families diagnosed with dysferlinopathy. The diagnosis was based on clinical findings and on the absence of protein expression using either immunohistochemistry or Western blot of skeletal muscle and/or monocytes. We identified 28 different mutations, 13 of which were novel. The DYSF mutations in both alleles were found in 30 patients and only in one allele in four. The results were confirmed using genomic DNA in 26/34 patients. This is the first report to furnish evidence of reliable mutational analysis using monocytes cDNA and constitutes a good alternative to genomic DNA analysis.
Assuntos
Proteínas de Membrana/metabolismo , Monócitos/metabolismo , Proteínas Musculares/metabolismo , Distrofias Musculares/genética , Mutação , Análise Mutacional de DNA/métodos , Disferlina , Saúde da Família , Feminino , Regulação da Expressão Gênica , Humanos , Masculino , Proteínas de Membrana/genética , Proteínas Musculares/genética , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/patologia , RNA Mensageiro/genéticaRESUMO
INTRODUCTION: We believe that it is of great interest, in neuropediatric clinic, to value the molar behavior disorders and to accomplish the corresponding molecular alterations in the central nervous system. PATIENTS AND METHODS: We studied 26 patients diagnosed of serious disorders of the development, that were presenting a typical clinic with manual stereotypes. We choose at random 5 children to practice them a study of metabolic neuroimaging through the Positron Emission Tomography with 18Fluoro-Deoxi-Glucose (PET-FDG). RESULTS AND CONCLUSIONS: The conclusion, more meaningful, is that the children with serious disorders of the development present a mature failure in the neuro-function circuits of the thalamus, as well as the cortical connection and association areas. This clinical situation is reinforced by the results of the PET-FDG, that presents a characteristic metabolic image of the autism children, with a bilateral decrease of the capitation of FDG, mainly in regions as thalamus, frontal and temporary lobes.
Assuntos
Encéfalo , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtorno de Movimento Estereotipado/diagnóstico por imagem , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encéfalo/fisiopatologia , Criança , Transtornos Globais do Desenvolvimento Infantil/complicações , Pré-Escolar , Eletroencefalografia , Feminino , Fluordesoxiglucose F18 , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Compostos Radiofarmacêuticos , Transtorno de Movimento Estereotipado/complicações , Terminologia como Assunto , Tomografia Computadorizada de Emissão , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION AND OBJECTIVE: Diagnostic criteria of the Gilles de la Tourette syndrome hasn't changed in many years. Lately, associated symptoms have became very important. In this study, we want to stress the relationship between precocious diagnostic criteria, proposed by us, and the associated symptomatology, specially the obsessive-compulsive disorder. PATIENTS AND METHODS: We have studied 30 patients with the diagnosis of Gilles de la Tourette syndrome with associated obsessive-compulsive disorder by means of our criteria, evaluating their fiability when confronted to the Shapiro et al and DSM III-R criteria. CONCLUSIONS: New criteria, that we have named Muñoz-Gómez, were useful for the precocious diagnosis of this syndrome and for evaluation of the associated symptomatology.
