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Biomedical subjects

U Magrini

Publications and source records attributed to U Magrini.

At least 73 records · Page 4Linked to original sources
PubMed1978

A new familial defect in neutrophil bactericidal activity.

A 4-year-old boy with recurrent infections and his clinically healthy father showed a severe, isolated defect in bactericidal activity of peripheral neutrophil leukocytes (the mother and the only sister were normal). Lymph nodes, spleen and liver of the child presented a massive infiltration by macrophages. Such infiltration and the segmentary albinism of the hair resemble traits of the Chediak-Higashi syndrome, but some of the most relevant traits of this syndrome are absent, since all other neutrophil functions were normal in our patient.

Adult↗
PubMed1976

Unusual combination of immune and endocrine deficiencies. A possible case of early-onset Louis-Bar syndrome.

Immunodeficiency functionally limited to the B-cell system together with mild hypothyroidism and severe growth hormone deficiency was found in a 6 1/2-month-old female infant with recurrent infections and growth retardation. A lymph node biopsy and post mortem examination of the lymphoid organs surprisingly revealed severe deficiency of both thymus-dependent and bursa-equivalent systems. The unusual combination of immune and endocrine deficiencies posed a difficult diagnostic problem. The hypothesis of an early-onset Louis-Bar syndrome was suggested and apparently corroborated by the autopsy findings of ovarian dysgenesis and cerebellar degeneration. The dissociation between functional and morphological findings as regards the immunodeficiency, and the possible links between immune and endocrine derangements are discussed.

Ataxia Telangiectasia↗
PubMed1975

Cytochemistry of cultured fibroblasts in myotonic muscular dystrophy.

The cytoplasm of cultured skin fibroblasts derived from four unrelated and from three related patients with myotonic muscular dystrophy exhibits high amounts of metachromatic granular material and of alcianophilic material with Alcian blue containing 0.1 M MgCl2. Alcianophilia disappears when the staining solution contains 0.3 M MgCl2, i.e. is probably due only to carboxyl group of glycosaminoglycans.

Adolescent↗