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Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1,(More)
  • M A Orlandi
  • 1996
This paper explores the relationship between organizational dynamics and program dissemination. Specifically, it is an analysis of factors affecting the directed diffusion of health promotion innovations which target schools and worksites as delivery channels. Technology transfer is the construct which is used to capture this notion of directed diffusion.(More)
Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the selective degeneration of retinal ganglion cells, leading to optic atrophy and loss of central vision prevalently in young males. The current study investigated the reasons for the higher prevalence of(More)
The genetic and epigenetic factors underlying the variable penetrance of homoplasmic mitochondrial DNA mutations are poorly understood. We investigated a 16-year-old patient with hypertrophic cardiomyopathy harboring a homoplasmic m.4277T>C mutation in the mt-tRNA(Ile) (MTTI) gene. Skeletal muscle showed multiple respiratory chain enzyme abnormalities and a(More)
OBJECTIVE To describe an unusual clinical phenotype in an adult harboring 2 compound heterozygous polymerase γ (POLG) mutations. DESIGN Case report. SETTING University-based outpatient neurology clinic and pathology and genetics laboratory. PATIENT A 27-year-old man presenting with isolated distal myopathy of the upper extremities in the absence of(More)
Isolated hypertrophic cardiomyopathy may represent the sole clinical feature of a mitochondrial disorder in adult patients. The clinical outcome is characterized by a rapid progression to dilation and failure. A mitochondrial etiology in these cases is not obvious at clinical investigation and may represent an unexpected finding at autopsy or after cardiac(More)
Mitochondrial (mt) diseases are multisystem disorders due to mutations in nuclear or mtDNA genes. Among the latter, more than 50% are located in transfer RNA (tRNA) genes and are responsible for a wide range of syndromes, for which no effective treatment is available at present. We show that three human mt aminoacyl-tRNA syntethases, namely leucyl-, valyl-,(More)
Prostaglandin H synthase (PGHs), also known as cyclooxygenase, is an unstable enzyme whose mRNA has an half life of 10 minutes. Some polypeptide factors have been reported to induce the enzyme in target cells. We have purified and characterized a component of animal sera which behaves as a potent inducer of human monocyte PGHs. This factor. called serum(More)
In view of the serious consequences of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and the absence of information about its incidence in the Brazilian population, we examined the frequency of the A985G mutation in the MCAD gene. A retrospective analysis was made of data on 1722 individuals (844 females) genotyped for the A985G mutation in the MCAD(More)
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