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Biomedical subjects

V Cormier

Publications and source records attributed to V Cormier.

23 records · Page 2Linked to original sources
PubMed1991

[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].

Pearson's syndrome is a lethal disorder of a still unknown cause, responsible for pancytopenia and exocrine pancreatic dysfunction in the first months of life. Permanent hyperlactacidemia and increased mitochondrial and cytoplasmic oxidoreduction ratios were observed in 6 unrelated children presenting with this disease. This led to study the oxidative phosphorylation in lymphocytes and thus to relate Pearson's syndrome to an enzymatic disease of the respiratory chain (NADH oxidase activity deficiency). The study of the mitochondrial genome allowed identifying major changes in mitochondrial DNA in all patients and all studied tissues. Thus, Pearson's syndrome is the first mitochondriopathy with a non neuromuscular expression reported to date.

DNA, Mitochondrial↗
PubMed1990

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) deficiency is an X-linked disease responsible for lethal neonatal hyperammonemia in males. Partial OTC deficiency also occurs in females and can be responsible for life-threatening hyperammonemic comas in heterozygotes (15%). Increased orotic acid excretion occurs in both symptomatic and asymptomatic carriers, especially under protein loading tests. The disease is therefore partially dominant with neonatal lethality in the hemizygous male; the fraction of new mutations has previously been estimated to be low in males (point estimation = 0, upper bound of the confidence interval = 0.16) and 57% in females. Genetic counseling in this disease is difficult because it is not clear whether a negative protein loading test rules out carrier status. In an attempt to determine how reliable the test is for carrier detection, we investigated ten obligate carriers for orotic acid excretion; considering all data available, we concluded that the test is rarely negative in obligate carriers (8%). Consequently, a negative test in a mother decreases the minimum risk of being a carrier from 84% a priori to 30% if she had an affected son and from 43% a priori to 5% if she had a heterozygous daughter. Finally, the diagnosis of a new mutation in the germ cells of the maternal grandfather in one particular family could be ascertained by extensive DNA analysis.

Bayes Theorem↗
PubMed1990

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys. The observation of high lactate/pyruvate molar ratios in plasma and abnormal oxidative phosphorylation in lymphocytes led us to postulate that Pearson's syndrome belongs to the group of mitochondrial cytopathies. Since rearrangements of the mitochondrial genome between direct DNA repeats were consistently found in all tissues tested, our results show that this disease is in fact a multisystem mitochondrial disorder, as suggested by the clinical course of the patients. Based on these observations, we would suggest giving consideration to the hypothesis of a defect of oxidative phosphorylation in elucidating the origin of other syndromes, especially those associated with an abnormal oxidoreduction status in plasma.

Anemia, Sideroblastic↗