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Biomedical subjects

R Denis

Publications and source records attributed to R Denis.

At least 73 records · Page 4Linked to original sources
PubMedDate not supplied

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.

A female neonate with pyruvate dehydrogenase (PDH) deficiency is presented with clinical, radiologic, biochemical, neuropathologic, and molecular genetic data. She was dysmorphic, with a high forehead, lowset ears, thin upper lip, upturned nose, and rhizomelic limbs. Cranial MRI revealed severe cortical atrophy, ventricular dilatation, and corpus callosum agenesis. Pyruvate and lactate levels were increased in CSF and blood. Urinary organic acid profile was compatible with PDH deficiency. PDH activity was normal in fibroblasts, lymphocytes, and muscle. The PDH E1-alpha gene was sequenced and a single base mutation was found within the regulatory phosphorylation site in exon 10. It is postulated that this mutation causes a cerebral form of PDH deficiency. Tissue-specific expression of the disease could be explained by differential X chromosome inactivation because the PDH E1-alpha gene is located on this chromosome. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF.

Brain↗
PubMedDate not supplied

Secretory IgA deficiency in pediatric patients: clinical and laboratory follow-up.

This is a prospective three-year (1985-1988) clinical and laboratory follow-up study of 43 pediatric patients without any measurable secretory IgA, intending to describe the their natural course. We also intended to detect evidence which may allow to predict their future outcome, whether they would become asymptomatic or end up developing chronic disease. A direct statistical correlation was found between those patients who normalize their secretory IgA levels and their course in an asymptomatic state. Thus, if a child does not have any sIgA at all, the relative risk to get sick is 0.86 (86%), while in those having sIgA within normal ranges, the relative risk of disease decreases to 0.46 (46%), representing a p value less than or equal to 0.05. Among the analyzed variables and their influence on the fact that a patient may or may not synthesize sIgA, none of them showed a predictive value for bronchial asthma by itself. However, when sIgA and total serum IgE levels, were analyzed together (being the two variables demonstrating to influence), the probability of becoming asthmatic is much greater in the ones with elevated total serum IgE and absent sIgA. This group is significantly different from the one with normal IgE and sIgA levels (p less than or equal to 0.001). According to our experience in evaluating and controlling a pediatric patient with repeated episodes of bronchial obstruction and lacking sIgA, an immediate strict environmental control should be established in order to avoid all possible contacts with allergens.(ABSTRACT TRUNCATED AT 250 WORDS)

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