Biomedical subjects
Publications and source records attributed to J G Juif.
The authors report 2 cases of unilateral cerebellar atrophia presenting in the neonatal period with facial peripheral palsy and iso-immune thrombocytopenia respectively. The recognition of cerebellar atrophia has been made by MRI. Unilateral cerebellar atrophia be due to ischemia. MRI seems to be a useful tool in the recognition of cerebellar malformations in the neonatal period.
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The authors attempt to justify the term cerebral tumour of primitive germinal origin from four of their own cases and a review of the literature. They emphasise the specific features. The tumours are more common in boys and involve the pineal, the walls of the third ventricle, the hypothalamus and the posterior pituitary. Several histological types may be distinguished by the degree of differentiation but the stromal reaction, which is partly responsible for the symptoms, is always present. The clinical course of the illness is biphasic. The first is manifest by endocrine disorders and is of relatively long duration. Water homeostasis is always affected and may be associated with other hypothalamic disorders. In the second phase, neurological symptoms and raised intracranial pressure appear. Surgical removal is not always possible, but radiotherapy improves the outlook.
Neutropenia is an almost constant feature of Chediak-Higashi syndrome (CHS). There is evidence for a central mechanism of neutropenia. Ultrastructural studies of the bone marrow from a child with CHS showed marked autophagic phenomena within myeloid precursor cells and mature neutrophils. Autophagic vacuoles were randomly distributed in the cytoplasm of the cells from the granulocytic series and some of them contained giant granules which thus appeared particularly resistant to the autophagic process. The vital cellular damage through endophagocytosis suggests the possibility of intramedullary destruction as an explanation for neutropenia.
Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15). The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.
Haemoglobin Stanleyville II has been found several times in individuals from Central Africa. This paper now reports its discovery in Alsace, in a family of long-standing local ancestry.
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The N-acetyl-beta-D-hexosaminidase activity (EC 3.2.1.30) in human serum during pregnancy is increased. A polyacrylamide gel electrophoresis, without sodium dodecyl sulfate-uree, of the total serum allowed after incubation with the N-acetyl-beta-D-glucosaminide (6-bromo-2-hydroxy-3-naphthoyl-O-anisidine) coupled with the diazonium salt of O-amino-azotoluene to localise two zones of enzymatic activity. An electrophoresis of the same samples in exponential gradient polyacrylamide gel, shows 6 to 8 zones of different enzymatic activities.
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The reactivity to PHA stimulation of peripheral blood lymphocytes from a child with a Chediak-Higashi syndrome was studied. Lymphocyte transformation was assayed by tritiated-thymidine incorporation. Patient lymphocytes reacted to much lower concentrations of PHA than normal controls. With an optimal dose of PHA the peak of thymidine uptake occurred on day 2 of incubation instead of day 4 as observed in normals.
Hemoglobin Stanleyville II, resembling hemoglobin D, has been found several times in individuals from Central Africa. This paper now reports its discovery in Alsace, in an 8 year old girl with cystic fibrosis. The mother and 5 out of 7 siblings had the abnormal hemoglobin. Only 2 of these 5 children had all the symptoms of cystic fibrosis. The family has been living in Alsace for many generations. Cystic fibrosis, a congenital disease, has a high incidence (1/1,800) among white children but is rare in black people.
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