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Biomedical subjects

C Borrone

Publications and source records attributed to C Borrone.

At least 73 records · Page 4Linked to original sources
PubMed1980

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

A five-year-old girl presented with congenital ichthyosis, hepatosplenomegaly, vacuolized granulocytes (Jordans' anomaly), and myopathy. Pathological, ultrastructural, and biochemical studies revealed nonlysosomal, multisystemic triglyceride storage. The cultured fibroblasts had increased uptake but decreased oxidation of labeled oleate. The patient failed to produce ketone bodies on fasting. A medium-chain triglyceride diet reversed the hepatomegaly. These studies are all consistent with a partial defect in the catabolism of long-chain fatty acids. This newly identified syndrome is presumably transmitted as an autosomal recessive trait.

Bone Marrow↗
PubMed1979

Detection of carriers and prenatal diagnosis for fucosidosis in Calabria.

A significant proportion of patients affected with fucosidosis have Italian ancestors. We assayed for alpha-fucosidase activity purified mononuclear cells and/or leukocytes obtained from 64 members of two large pedigrees from Calabria, in which seven children had been diagnosed as affected with fucosidosis. Of these 64 individuals, 22 were diagnosed as carriers, while the values for the remainder were within normal limits, indicating a clear bimodal distribution among individuals at risk. These data confirm that carrier detection for fucosidosis requires the measurement of alpha-L-fucosidase activity in purified mononuclear cells from peripheral blood. In addition, this program has made prenatal identification of an affected fetus possible.

Amniotic Fluid↗
PubMed1978

Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.

Four boys, aged 2 years 5 months to 3 years 7 months, with large hepatomegaly due to phosphorylase-kinase deficiency glycogenosis, were given a trial of sodium dextrothyroxine (D-T4) at a mean dose of 0.165 mg/kg/day for an average period of 6 months. Phosphorylase-kinase was undetectable in the haemolysates of erythrocytes (3 patients) or in the liver (one patient) before, and still undetectable in the haemolysates of the four patients during treatment, thus pointing to X-linked phosphorylase-kinase deficiency glycogen storage disease (GSD IXb). D-T4 administration resulted in complete normalization of liver size, decrease of serum GOT (p less than 0.02), GPT (p less than 0.05) and triglycerides (p less than 0.01) to normal values, as well as correction of mild asymptomatic hypoglycemia (p less than 0.01). As long as the outcome of type IXb glycogenosis in adult life remains undefined, dextrothyroxine therapy seems an effective means of reducing liver size and correcting part of the biochemical abnormalities of the disease.

Alanine Transaminase↗
PubMed1977

Sialidosis (mucolipidosis I).

The term "sialidosis" is suggested for the deficiency of alpha-neuraminidase activity in peripheral leukocytes and cultured fibroblasts which results in a considerable urinary excretion of sialyl-oligosaccharides. This defect was found in two siblings with a mild form of mucolipidosis I. 12 sialyl-acid rich oligosacharides have been isolated from the urine of the patients. The structure of ten of them has been determined. The studies of the patients show a remarkable variability of the clinical expression of this disease. The two siblings exhibited a progressive reduction of visual acuity, red-green blindness, a bilateral cherry red macular spot, punctate opacities of the lens, and minimal neurological symptoms. Morphologically, vacuolized lymphocytes, refringent inclusions in cultured fibroblasts, numerous cytoplasmatic inclusions containing a fine protein-like reticulum and some osmiophilic granules mainly in Kupffer's cells were found.

Adolescent↗
PubMed1976

Fucosidosis: a neuropathological study.

The involvement of the central nervous system in fucosidosis is related to severe lesions of both nerve and glial cells. The morphology of cells degeneration is characterized by both vacuoli containing water-soluble fuco-derivatives (fuco-oligosaccharides) and/or granular substances probably constituted by fuco-sphingolipds. The cerebral cortex is the most severely affected. The involvement of the white matter is related to the glial cells degeneration. The relationship between the morphology of nerve and glial cells lesions, and the accumulation of oligosaccharides and sphingolipids following the absence of alpha-L-fucosidase, is briefly discussed.

Brain↗
PubMed1976

Multiple lymphonodular cryptococcosis, cured by 5-fluorocytosine.

A 5-year-old boy was admitted with an acute febrile illness and painful and enlarged cervical lymph nodes. A chest X-ray showed right tracheobronchial lymph nodes. A lymph node biopsy demonstrated a tuberculoid appearance, with epitheloid cells, giant cells, and also necrotic zones. Cryptococcus neoformans was isolated both in culture and after animal inoculation. While amphotericin B was not tolerated by the patient, the oral administration of 5-fluorocytosine resulted in a rapid recovery.

Child, Preschool↗