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Síndroma Smith-Lemli-Opitz. Defeito Metabólico na Biossíntese do Colesterol. A ...

O síndroma de Smith-Lemli-Opitz (SLO) é uma doença genética autossómica recessiva caracterizada por múltiplas anomalias congénitas sendo as mais frequentes o atraso de crescimento e desenvolvimento, microcefalia, anomalias faciais, anomalias genitais e sindactilia e ou polidactilia associadas a outras anomalias menos frequentes. Não há nenhuma anomalia congénita patognomónica nem obrigatória para o diagnóstico ...

Educação Médica e Profissionalismo

É analisada, sucintamente, a evolução que os objectivos, estratégias e modelos de formação médica têm tido deste a apresentação e subsequente aplicação do célebre modelo de Abraham Flexner, faz agora 103 anos. Ainda que globalmente aceite nos seus princípios e instrumentos pedagógicos originais, aquele modelo não tem evitado uma continuada insatisfação junto da comunidade médica ealunos, a que acrescem, mais ac...

Genes, crianças e pediatras: Doença de Menkes

A male newborn, presenting hipotonia and posterior parietal bossing, developed, in the first 12 hours of life, refusal to feed and hypoglycaemia. A cranial ultrasound, skull X-ray and CT scan revealed an occipital and parietal fracture with an underlying haematoma and extensive extracranial soft-tissue swelling. He was submitted to surgical drainage. After 24 hours: new intracerebral bleeding. At the age of two...

Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this rea...

Avaliação dos níveis de ácidos gordos essenciais (DHA, AA e EPA) em doentes sub...

Liver transplantation prevents progressive neurological impairment in argininemia

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this rea...

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...

Novel mutation in the mitochondrial transfer RNACys gene in a child

Mitochondrial DNA (mtDNA) disorders are an important group of genetic diseases presenting with a multifacet array of clinical manifestations. Highly energy-dependent tissues such as central nervous system and skeletal and cardiac muscles are commonly involved either as multisystem or as isolated organ disease. Characteristic symptoms include epilepsy, myopathy, deafness and ophthalmoplegia, all associated with ...

O desafio da publicação em meio científico: como, onde e porquê?: livro de res...

O presente documento reúne os contributos de todos os autores que apresentaram as suas comunicações na III Conferência do Instituto Politécnico de Castelo Branco sobre o Livre Acesso ao Conhecimento Científico e que consentiram em partilhar as suas ideias e o seu conhecimento, disponibilizando-os em Livre Acesso.

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...