PubMed HealthSearch

Biomedical subjects

J C Luckel

Publications and source records attributed to J C Luckel.

6 recordsLinked to original sources

[Cerebral tumors of primitive germinal origin].

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.

Adenoma

Autophagia in myeloid precursors: an explanation for neutropenia in Chediak-Higashi syndrome?

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.

Agranulocytosis

Ring chromosome 15:r(15). Identification by R banding.

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.

Child, Preschool

[Chediak-Higashi syndrome. Study of lymphocyte transformation stimulated by phytohemaglutinin (PHA)].

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.

Chediak-Higashi Syndrome