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Biomedical subjects

G Stoppoloni

Publications and source records attributed to G Stoppoloni.

At least 19 recordsLinked to original sources
PubMed1996

Spontaneous and mitomycin-C-induced micronuclei in lymphocytes from subjects affected by Turner's syndrome.

Peripheral blood lymphocytes from 15 subjects affected by Turner's syndrome (TS) and aged between 2 and 24 years (mean age 10.40 +/- 6.25) were tested to evaluate the spontaneous and Mitomycin-C-induced (MMC) micronucleus (MN) frequency. A group of 15 healthy subjects, in the same range of age (mean age 14.67 +/- 8.30), was also tested as control. As expected, statistically significant differences between spontaneous and MMC-induced MN were found either in TS and in healthy subjects. Unexpectedly, when the two groups of donors were compared, TS subjects showed a lower spontaneous and MMC-induced MN frequency, in comparison with healthy subjects. Cell proliferation kinetic and cytotoxicity were also measured applying the cytokinesis-block proliferation index (CBPI): the results show that MMC, at the employed concentration, does not induce cell cycle delay both in healthy and in TS donors. Whereas, when CBPI from TS and healthy donors were compared, a faster proliferation was found in TS patients in both untreated and MMC-treated cultures.

Adolescent↗
PubMed1992

Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency.

We report a 2.3-year-old girl with complete lack of adenosine deaminase (ADA) activity who presented with severe atopic dermatitis and insulin-dependent diabetes mellitus but only mild recurrent infections. Abnormalities of immune function included profound depletion of CD8+ lymphocytes, hyperimmunoglobulinaemia E, and very low in vitro proliferative response to mitogens. Treatment with polyethylene glycol-conjugated ADA was followed by rapid amelioration of clinical and immunological conditions. The immunological and clinical features of this child suggest that the clinical spectrum of ADA deficiency may be broader than originally supposed.

Adenosine Deaminase↗
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↗
PubMed1978

Lysine in treatment of hyperornithinemia.

A metabolic study in a case of hyperornithinemia with gyrate atrophy of choroid and retina is presented. It is demonstrated that the lysine-ornithine antagonism is a physiological, safe, easy to handle therapeutic tool in hyperornithinemia. A lysine load was invariably associated with a reduction of plasma ornithine concentration. This happened at any level of protein intake. It was also shown that diets containing a low protein intake are invariably associated with negative nitrogen balance.

Arginine↗
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↗