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Biomedical subjects

J P Carriere

Publications and source records attributed to J P Carriere.

14 recordsLinked to original sources
PubMed1993

[Cerebral arteritis, carotid thrombosis and rubella: relation or coincidence?].

A 10 year-old boy presented with an acute transitory right hemiparesis with aphasia. On CT-scan there was a left temporal low density. The cerebral angiography showed a total obstruction of the left terminal internal carotid with a "beading" of the posterior cerebral artery on the same side. Blood serologies and the presence of specific IgM in the cerebrospinal fluid gave evidence for recent rubella. An other arteriogram after a follow-up of 3 months showed a persistent obstruction of the internal carotid but a disappearance of the cerebral posterior artery abnormalities.

Carotid Artery Thrombosis↗
PubMed1990

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann disease (type II) and Kugelberg-Welander disease (type III). These different clinical forms have previously been attributed to either genetic heterogeneity or variable expression of different mutations at the same locus. Research has been hindered because the underlying biochemical defect is unknown, and there are insufficient large pedigrees with the most common and severe form (type I) available for study. Therefore, we have undertaken a genetic linkage analysis of the chronic forms of the disease (types II and III) as an initial step towards the ultimate goal of characterizing the gene(s) responsible for all three types. We report here the assignment of the locus for the chronic forms to the long arm of chromosome 5 (5q12-q14), with the anonymous DNA marker D5S39, in 24 multiplex families of distinct ethnic origin. Furthermore, no evidence for genetic heterogeneity was found for types II and III in our study, suggesting that these two forms are allelic disorders.

Chromosome Mapping↗
PubMed1989

[Taurine in the cerebrospinal fluid in febrile convulsions in children].

Taurine may function in brain as a neuroinhibitor, and intracerebroventricular taurine has the capacity to induce hypothermia. Its antiepileptic properties have been observed in animals and humans. On the basis of these data, we studied taurine concentration in the cerebrospinal fluid of 32 children with simple febrile convulsions (16 +/- 6 months) and of 25 children with acute hyperthermia without neurologic signs (13 +/- 8 months). Taurine concentration in cerebrospinal fluid was similar in febrile convulsion children (8 +/- 4 mumol/l) compared to a control group (7.8 +/- 3 mumol/l).

Child, Preschool↗
PubMed1988

Tuberculous meningitis due to BCG in two previously healthy children.

Tuberculous meningitis with favourable outcome has been observed in two immunocompetent previously healthy children. The mycobacteria isolated from the cerebrospinal fluid of both patients proved to be Mycobacterium bovis BCG. The patients had been inoculated with BCG, one 5 and the other 6 months before onset of the disease.

Antibodies, Bacterial↗
PubMedDate not supplied

Pili torti with congenital deafness (Bjornstad syndrome): a case report.

We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.

Child, Preschool↗