[Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to R Gilly.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Various aspects of immunity in cystic fibrosis were studied in 24 children and compared with the results in 13 children with other types of chronic bronchial infection. The complement was not significantly altered: number of lymphocytes, delayed hypersensitivity skin reactions, number of T (an B) cells, phytohaemagglutinin lymphocyte stimulation were virtually normal. Only the phagocytic activities (chemotaxis, phagocytosis, bacteridal activity) were altered in 20 out of 24 patients with cystic fibrosis and in a comparable percentage of patients with other types of chronic bronchial infection. No serum inhibitory factor was found and leukocyte enzyme activities were normal. This deficiency of phagocytic functions seems to be, at least in part, secondary to infection.
This grave complication is a major cause of mortality in ventriculo-atrial shunts in children with hydrocephalus. It occurs at a much higher rate than with long-term indwelling intracavitary pacemakers, which suggests that the shunt procedure is responsible for either chronic infection or the introduction of cerebral thromboplastin.
Immunological and pathological studies in a case of partial Di George syndrome revealed an absence of parathyroids, a major hypoplasia of thymus but a relatively moderate decrease in peripheral T-lymphocyte numbers and functions. After in vitro incubation with normal thymus extracts, a normal proportion of bone marrow cells was induced to differentiate into cells with characteristics of T lymphocytes, thus establishing the presence of T-cell precursors in the patient's bone marrow.
Three personal cases, and the cases of literature of congenital adrenal hypoplasia with cytomegaly allow an histological definition. Clinical and biological findings are described. In 2 cases, a diffused hypertrophy of the cells responsible for corticotrope or melanotrope secretion was discovered; it confirmed the peripheral adrenal origin of the condition, as well as high plasmatic level of ACTH, in the third case. Sex-bound cytomegalic adrenal hypoplasia is differenciated from other cortico-adrenal insufficiencies with cytomegaly.
Clinical, histological, ultrastructural and biochemical studies have been performed in a living 20-month-old infant with GM1-gangliosidosis type 2. Rectum, brain and liver biopsies were done. The histological and ultrastructural examination revealed the presence of cytoplasmic membranous bodies in the nervous system and a vacuolisation of the visceral parenchymatous cells, particularly histiocytes. The diagnosis was established by the finding of a generalized beta-galactosidase deficiency and an accumulation of GM1-ganglioside in brain. In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. In cerebral tissue, GM1 ganglioside constituted 80% of total gangliosides; its concentration was 15 times that in age-matched controls. No accumulation of GM1 could be evidence in liver. Enzymatic examination of leukocytes obtained from the consanguineous parents revealed heterozygote values.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.