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Avaliação do Estado Redox Plasmático na Criança

A avaliação do estado redox plasmático, que consiste na determinação simultânea das concentrações plasmáticas de lactato, piruvato, acetoacetato e P-hidroxibutirato, é útil no rastreio das doenças hereditárias do metabolismo por défice energético. O seu doseamento exige rigorosas condições de colheita e processamento das amostras. Fez-se o estudo de 70 crianças sem doença metabólica com idades compreendidas ent...

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional ...

BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between geno...

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional ...

Background Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between gen...

Síndromes de Deficiência Cerebral de Creatina

Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity. They are characterized by low levels of cerebral creatine caused by different pathogenic mutations concerning the genes coding for creatine synthesis enzymes [arginine: glicyne amidino...

A multicommuted flow system for dissolution studies of Captopril in pharmaceuti...

A flow-based analytical procedure exploiting multicommutation is proposed for captopril determination and the construction of dissolution curves. The procedure is based on the redox reaction between Cu(II) and the drug with the subsequent complexation of Cu(I) with 4,4'-dicarboxy-2,2'-bichinoline (BCA) and spectrophotometric detection. A linear response was observed between 25 and 300 µmol L-1 captopril and the...

Produção científica e formação de recursos humanos na área de bioquímica em ins...

Brazilian scientific production in Biochemistry is growing impressively fast, and Rio Grande do Sul is outstanding in that context. This study aims to outline the state's scientific research profile, given its prominent position in the national scenario. Hence, researchers, laboratories, development of human resources and investments by Foundation for the Support to Research in the State of Rio Grande do Sul (F...

Well-being in adolescents: the 11-year follow-up of the 1993 Pelotas (Brazil) b...

Studies on well-being and its possible determinants are rare in the international literature, and almost non-existent in Brazil, particularly among youth. The present study focused on the epidemiology of well-being among adolescents belonging to a birth cohort. Well-being was measured using face-to-face interviews, with a question whose answer was based on a graphic scale of faces. 4,452 adolescents were interv...

Contributo da neurorradiologia: para o diagnóstico das doenças hereditárias do ...

Brief report: High frequency of biochemical markers for mitochondrial dysfuncti...

In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. We further examine the involvement of the mitochondrial aspartate/glutamate carrier gene (SLC25A12) in mitochondrial dysfunction associated with autism. We found no evidence o...

Cerebral aspergillosis due to Aspergillus fumigatus in AIDS patient: first cult...

Cerebral aspergillosis is a rare cause of brain expansive lesion in AIDS patients. We report the first culture-proven case of brain abscess due to Aspergillus fumigatus in a Brazilian AIDS patient. The patient, a 26 year-old male with human immunodeficiency virus (HIV) infection and history of pulmonary tuberculosis and cerebral toxoplasmosis, had fever, cough, dyspnea, and two episodes of seizures. The brain c...