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Biomedical subjects

G Malpuech

Publications and source records attributed to G Malpuech.

At least 73 records · Page 4Linked to original sources
PubMed1984

[Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment].

In a child presenting with malignant phenylketonuria due to dihydrobiopterin synthetase deficiency, the authors studied the cerebrospinal fluid (CSF) homovanillic acid and 5 hydroxyindole acetic acid levels under different circumstances: without treatment; under a treatment with tetrahydrobiopterin used alone at various doses; under a treatment associating BH4, L-dopa, 5 hydroxytryptophan and carbidopa, with increasing doses and varying administration schedules. This biological study compared with clinical evolution, shows clearly the inefficacy, regardless of the doses, of BH4 on the CSF levels of neuromediators and on the neurological status, and the excellent efficacy of neuromediator precursors provided high doses are given, divided in the nyctohemeral period.

Alcohol Oxidoreductases↗
PubMed1983

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.

In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.

Abnormalities, Multiple↗
PubMed1983

[Trisomy of the short arm of 9 with isochromosome 9p and partial monosomy Yq].

A patient with trisomy 9p in association with monosomy of the heterochromatic distal portion of the Y chromosome is reported. The rearrangement is probably due to malsegregation of a translocation 9p, Y and formation of an iso (9p). The phenotype of the patient is characteristic of trisomy 9p. There is a significant increase of GALT activity.

Abnormalities, Multiple↗
PubMed1982

Echocardiographic patterns in infants and children with chronic renal failure.

Sixty-five echocardiograms were performed on 20 children with chronic renal failure and were compared with 101 normal controls. The main cardiac abnormalities were dilation of left ventricle and left atrium, left ventricular wall and septum hypertrophy, increase of cardiac output, and rarely decrease of contractility. Anemia, arteriovenous fistula, arterial hypertension and severe renal failure (patients treated by maintenance dialysis) were factors associated with these abnormalities. The authors emphasize the value of echocardiograms in the follow up of children with chronic renal failure.

Adolescent↗
PubMed1981

[Burkitt's type acute lymphoblastic leukemia. Cellular phenotype and chromosome abnormally (author's transl)].

A 13 year-old boy presented with Burkitt's type acute lymphoblastic leukemia (B-ALL). Studies of immune markers on his lymphoblasts suggest they have reached a fairly advanced level of differentiation with in the B-cell lineage. Presence of 1q+ and 8q- chromosomes suggest an unusual (1;8) translocation and is in agreement with current concepts concerning the frequent chromosome 8 changes in B-ALL.

Adolescent↗
PubMed1981

[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].

The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.

4-Hydroxyphenylpyruvate Dioxygenase↗
PubMed1980

[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)].

Ultrastructural studies of cultured skin fibroblasts derived from an individual affected with Tay-Sachs disease (GM2 gangliosidosis variant B) diagnosed by clinical observation and hexosaminidase A deficiency, revealed several lamellar lysosomal inclusions. These inclusions are not seen in cultured fibroblasts and cultured amniotic fluid cells derived from individuals heterozygotic for Tay-Sachs disease. Normal cells were cultured and observed for comparison.

Cells, Cultured↗
PubMed1979

[Meckel's syndrome: an unusual pedigree].

The authors report the case, in the same family, of two children with the Meckel's syndrome, of two mis-arriages (one foetus with anencephalia, the other one with occipital meningocele), and of two still-born children (one with anencephalia, the other one with occipital meningocele). The genetic problems raised by this unusual genealogy are discussed.

Anencephaly↗
PubMed1978

A dynamic study in two new cases of X chromosome translocations.

The authors discuss the clinical and cytogenetic problems raised in two new cases of X-chromosome translocations. The first case involves a child who presented marked malformations at age 3 months. Chromosome analysis revealed the presence of a translocation between a 22 and X chromosome resulting in partial X monosomy and partial trisomy 22: 46,X,der(X),t(X:22)(q112;q13)mat. The balanced translocation form was detected in the mother. Dynamic study after 5-Brdu treatment revealed inactivation of the translocated X chromosome in the proband, while in the mother the normal X chromosome was inactivated. In addition to magnesium dependent hypocalcemia resulting from a specific absorption anomaly, Case 2 presented discrete malformations and psychomotor retardation. Chromosome analysis revealed an apparently balanced translocation between a 9 and X chromosome: 46,X,t(9;X)(q12;p22). Treatment with 5-Brdu demonstrated that the translocated X chromosome was inactivated but that inactivation did not extend to the translocated part of chromosome 9. Finally, a pericentric inversion of a 9 chromosome was detected in the father, grandfather, and brother of the proband.

Bromodeoxyuridine↗