A trissomia 22 em mosaico é uma cromossomopatia particularmente rara de que foram publicados apenas 10 casos, dois dos quais do sexo masculino. Descrevemos o terceiro caso desta situação numa criança de um ano de idade. Referimos as circunstâncias em que um estudo citogenético normal não permite excluir o diagnóstico de cromossomopatia.
Introduction: Pompe disease or glycogen storage disease type II is an autosomal recessive disorder due to acid maltase deficiency. It is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population. There are three forms of clinical presentation (infantile-onset, childhood-onset and adult-onset), although the disease presents as a continuum ...
We evaluated coenzyme Q10 (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n = 39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann–Whitney-U test: p = 0.001). Our findings suggest that MDS are f...
Livro de abstracts da 16ª reunião da SPGH 2012 ; Introduction Succinyl CoA synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and ATP or GTP from succinyl-CoA and ADP in the tricarboxylic acid cycle (TCA). This enzyme is made up of two subunits, α and β, encoded by SUCLG1 and SUCLA2, respectively. The clinical features of patients with mutations in SUCLA2 include ea...
The Nigerian writer Chinua Achebe devotes his great success to his two rurally set novels: Things Fall Apart (1958) and Arrow of God (1964). Both novels coincide in portraying the autochthonous ways of living of the Ibo people precisely when they start a new moment of crisis with the British colonial occupation. Among the most relevant elements that shape this new narrative scenery, the fact that yam is the bas...
Gliomas are the most common tumors in the central nervous system, the average survival time of patients with glioblastoma multiforme being about 1 year from diagnosis, in spite of harsh therapy. Aiming to study the transcriptional profiles displayed by glioma cells undergoing cisplatin treatment, gene expression analysis was performed by the cDNA microarray method. Cell survival and apoptosis induction followin...
O presente Relatório Final de Estágio foi realizado no âmbito da disciplina de Prática de Ensino Supervisionada do 2º ano do curso de Mestrado em Educação Pré-Escolar e Ensino do 1.º Ciclo do Ensino Básico. O objectivo deste trabalho é conhecer as interacções e relações interpessoais estabelecidas entre crianças sem NEE e crianças com NEE, assim como conhecer as percepções dos professores (titular de turma e de...
É relatado caso excepcional de puérpera de 15 anos com choque séptico pelo Streptococcus beta-hemolítico do grupo A e síndrome de Waterhouse-Friderichsen, observado à necropsia. São revistos aspectos do diagnóstico, patogênese e evolução da infecção (sepse) puerperal associada à hemorragia e insuficiência das supra-renais.
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