PubMed Health⌕ Search

Biomedical subjects

F Prisco

Publications and source records attributed to F Prisco.

36 records · Page 2Linked to original sources
PubMed1992

Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus.

The authors report on five cases of Seckel syndrome type I primordial dwarfism, belonging to three unrelated sibships. Immunological and cytogenetic investigations with DEB test did not evidence immunodeficiency or chromosomal fragility. HLA phenotype studies revealed an identical haplotype in affected sibs: a possible linkage with HLA is therefore suggested. Cranial magnetic resonance was performed in three patients and did not evidence any anomaly. One affected female showed precocious puberty at 7 years of age.

Abnormalities, Multiple↗
PubMed1991

Screening of diabetic children for coeliac disease with antigliadin antibodies and HLA typing.

IgA and IgG antigliadin antibodies were measured in 498 patients with insulin dependent diabetes mellitus and no history of intestinal malabsorption. Thirty patients had abnormal concentrations of antigliadin antibodies; 22 of these had an intestinal biopsy carried out and 16 of the 22 had subtotal villous atrophy suggestive of coeliac disease (prevalence 3.2%). There were no significant differences between patients with coeliac disease and diabetes and diabetic patients with normal IgA antigliadin antibodies in any of the nutritional variables measured, duration of diabetes, and mean insulin requirement. The mean age of onset of diabetes and attainment of expected height for age were both significantly lower in the patients with both diseases. Typing HLA classes I and II was done in 242 patients. The incidence of HLA-B8, DR3, and DQW2, which are commonly associated with both the diseases, is increased when both are present.

Adolescent↗
PubMed1978

Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.

A case of hyperornithinemia and gyrate atrophy of choroid and retina has been observed in a 3-year and 9-month-old girl. She presented also mild mental retardation, delayed language development and speech defects. The restriction of protein intake to a minimum of 0.8 g/kg/day induced a significant reduction of plasma ornithine levels. In some of the previous reports of the syndrome, a deficient ornithine-ketoacid transaminase activity has been found in cultured fibroblasts.

Atrophy↗
PubMedDate not supplied

A girl with diabetes and severe combined immunodeficiency from adenosine deaminase deficiency.

We present a girl with severe combined immunodeficiency (SCID) from adenosine deaminase (ADA) deficiency who developed insulin dependent diabetes mellitus (IDDM). This combination of features has not been previously reported. Because HLA typing (DQbeta-57 Asp/Asp and DQalpha-52 Ser/Ser) showed no alleles usually associated with IDDM, and ICA were repeatedly negative even after treatment with PEG-ADA and gene transplant, hypotheses on the pathogenesis of diabetes mellitus in this patient are discussed.

Adenosine Deaminase↗
PubMedDate not supplied

Characteristics of insulin resistance in Turner syndrome.

The characteristics of insulin resistance, in Turner syndrome are still unclear. For this purpose in 4 patients with Turner syndrome and in 8 control females we performed an euglycaemic hyperinsulinemic glucose clamp at the following insulin infusion rates (50 and 100 mU/Kg x h), each period lasting 120 min. A simultaneous infusion of D-3-H-glucose allowed us to determine in basal conditions and during the clamp hepatic glucose output and glucose disappearance rate (Rd). In basal conditions plasma glucose (4.8 +/- 0.1 vs 4.6 +/- 0.2 mmol/1 p = NS) and plasma glucagon (102 +/- 7.5 vs 112 +/- 11.3 ng/l p = NS) were similar in both groups despite higher plasma insulin (19 +/- 1.8 vs 7 +/- 2.2 mU/l p less than 0.05) and C-peptide (1.0 less than 0.1 vs 0.8 +/- 0.06 pmol/l p less than 0.05) levels in patients with Turner syndrome. In the last 60 min of the lower insulin infusion rate glucose infusion rate (4.1 +/- 0.3 vs 2.9 +/- 0.4 mg/Kg x min p less than 0.05) and glucose disappearance rate (3.89 +/- 0.12 vs 2.63 +/- 0.11 mg/Kg x min p less than 0.01) were significantly reduced in patients with Turner. On the contrary hepatic glucose output was similarly suppressed in both groups of subjects. Doubling the insulin infusion rate, we obtained similar results in patients and controls respectively. So we conclude that in Turner syndrome the insulin resistance state is mainly due to a muscular receptor defect.

Adolescent↗