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Biomedical subjects

P Monnet

Publications and source records attributed to P Monnet.

16 recordsLinked to original sources
PubMed1979

[Glutaric aciduria. 1 new case].

A 4 year old girl with mild mental retardation presented with convulsions, coma and hepatomegaly. She died rapidly. The main biochemical findings were hypoglycaemia, metabolic acidosis, generalised aminoaciduria, elevation of the plasma and urine alpha-amino adipic acid, massive urine excretion of glutaric and glutaconic acids with traces of alpha-hydroxyglutaric acid. The diagnosis of glutaric aciduria was confirmed by the low activity of glutaryl CoA dehydrogenase in liver tissue. This diagnosis should be considered in children with progressive neurological disorders (dystonia, choreoathetosis) and in children with an illness similar to Reye's syndrome.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

[Severe urinary tract and cutaneous lesions after umbilical cord artery puncture and direct injection of hypertonic sodium bicarbonate to the newborn in the delivery room. Report of three cases (author's transl)].

Three cases of necrotizing and calcifying lesions of low urinary tract, buttock and adjacent perineum are reported. These lesions have been induced by direct syringe injection into an umbilical artery of 42% sodium bicarbonate solution at the dose of 5 to 6 ml/kg of body weight. Radiographic examinations are very important to study the urinary tract lesions. These have been surgically controlled in two cases. The follow up ranges from 10 to 21 1/2 months. On the bladder initial necrotizing lesions are followed by calcification and parietal retraction. These bladder lesions induce a more or less important ureterohydronephrosis. To these constant lesions are variably associated urethral calcifications and stenosis, distal ureter calcifications. These lesions seem to be related to the sodium bicarbonate hyperosmolality, to the injection conditions, and to the local hemodynamic features.

Bicarbonates↗
PubMedDate not supplied

[Alpha chain disease. Report of a case (author's transl)].

A young patient, with alpha chain disease, is in good clinic condition, a little more than 4 years after the diagnosis. She received, during 1 year, antibiotics of tetracycline type, then antimitotics during 2 years. 9 months after antimitotics treatment was achieved, histologic signs remained unmodified, without evidence of degenerescence. Immunoelectrophoresis which was normal at the end of chemotherapy is always normal after 15 months without treatment.

Adolescent↗
PubMedDate not supplied

[Situs inversus and long-term bronchopneumopathies, existing since the neonatal period].

Four boys are described who developed respiratory difficulties and broncho-pulmonary disease in the neonatal period. Three had situs inversus, and one situs ambiguus (Ivemark's syndrome). The symptoms continued for several months or years and in three children progressed to bronchiectasis. The other child is recovered. Two the children were brothers and a third sib. presented with bronchopulmonary disease at birth that continued for 17 months. He did not have situs inversus.

Bronchial Diseases↗
PubMedDate not supplied

[Generalized BCG infection in mixed and severe immunologic deficiency. Unfavorable outcome in spite of an attempted bone marrow transplant].

Generalized BCG infection can occur after vaccination in patients with a severe combined or T-cell immunodeficiency. In the reported case, generalized BCG infection developed in an infant with a severe combined immunodeficiency disease and presented mainly with hematological manifestations. This infection led to death of the patient in spite of an histocompatible bone marrow transplantation performed late in the course of the disease and followed by a minimal graft-versus-host reaction. Based on this case report and others from the literature, it is suggested that neonatal BCG vaccination should be performed after knowing at least the complete family history. Although the presented patient died, it should seem reasonable to treat such patients with an early immunological reconstitution and with anti-TB antibiotics.

BCG Vaccine↗