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Biomedical subjects

A Maggio

Publications and source records attributed to A Maggio.

At least 73 records · Page 4Linked to original sources
PubMed1986

Beta A and beta thal DNA haplotypes in Sicily.

A close association between specific restriction fragment polymorphism patterns and specific mutations in Mediterranean people with thalassemia has been demonstrated by Kazazian et al. (1984). This finding is useful to characterize the number and types of mutations in each ethnic group for setting up prenatal diagnosis in the first trimester of pregnancy by the oligonucleotide technique. For this reason we studied 99 beta thal and 46 beta A chromosomes in the Sicilian population. We found seven different cleavage patterns, not considering two new haplotypes so far uncharacterized. Many of the patients (68.3%) were genetic compounds for different haplotypes while only 31.7% were haplotype homozygotes. They may still be thalassemia compound heterozygotes. These findings confirm the molecular basis of the heterogeneity of beta thalassemia in Sicily.

Chromosome Mapping↗
PubMed1986

Clinical severity of non-deletion form of HbH disease (--Med/alpha alpha thal).

We carried out alpha-globin gene analysis by restriction endonuclease mapping in a family with 2 cases of HbH disease. These data show that HbH disease in this family results from the interaction between a common deletional defect and a less common non-deletion alpha-thal lesion (--Med/alpha alpha thal). Furthermore, the presence of a beta-thal determinant in this family was investigated by beta gene polymorphism study. We showed that a patient with HbH disease also inherited a beta-thal determinant from the mother and although this was a beta O-thal gene, it was not sufficient to mask the severe alpha chain deficiency. The --Med/alpha alpha thal genotype is more severe than other types of alpha thalassaemia interactions causing HbH disease, probably because the expression of alpha alpha thal determinant may be lower than that of an alpha-thal determinant containing just a single alpha gene (-alpha) and the output so poor that the presence of one beta-thal gene does not significantly change the clinical picture.

Adolescent↗
PubMed1985

alpha alpha alpha anti-4.2 Haplotype and heterozygous beta null thalassemia in a Sicilian family.

The presence of the alpha alpha alpha anti-4.2 haplotype and heterozygous beta null thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (-alpha 4.2) and indicate that this may not be rare. Furthermore, although the beta thalassemia determinant in this family has a severe expression, the interaction with the triplicated alpha gene does not necessarily express itself as thalassemia intermedia.

Adult↗
PubMed1982

Immune evaluation of 50 children with neuroblastoma at onset.

Several studies document the importance of immunity in the host-tumor relationship in neuroblastoma patients, evidentiating a correlation between clinical compromission and immune impairment. In this study we evaluated some aspects of cellular and humoral immune capacity in 50 neuroblastoma patients at onset. The aim of this investigation was to define, if any, the common immune pattern of these patients, and to evidentiate a possible correlation with prognosis. Immune tests performed were serum immunoglobulin quantitation, absolute value of total T and B lymphocytes, and lymphocyte reactivity to phytohemagglutinin (PHA), Concanavalin A (ConA), and Pokeweed mitogen (PWM). In patients with localized or regional disease, diminished values of lymphocytes were observed in 4/16 cases, a datum highly correlated to a poor final outcome (P less than 0.01). Mitogen response and serum immunoglobulin levels were frequently altered, but no prognostic value was evidentiated. Thirty-one children with disseminated disease presented more frequent and extended abnormalities: No parameter was found to correlate with prognosis, except for an impaired PHA response that paradoxically assumed a favourable prognostic meaning. Our results suggest that only the total lymphocyte number can contribute to predict the survival ratio in patients with regional disease.

Adolescent↗
PubMed1981

[Diminished in vitro colony forming capacity of bone marrow cells in a case of chromosome 8 trisomy (mosaicism): criteria for "high risk" pre-leukemia syndrome].

A case has been described of Trisomy 8 mosaicism Syndrome. At onset the child presented with hyporegenerative anemia; the study of colony forming capacity in vitro (CFU) by Bone Marrow (B) and Peripheral Blood (PB) showed an abnormal colony formation by myeloid and erythroid progenitor cells. No immunological defects were discovered. The in vitro colony formation appears to have a definite role in the identification of patients who may be at higher risk of developing leukemia. The importance of 8 chromosome for hematopoiesis control is discussed.

Child, Preschool↗
PubMed1976

Effects of 4-pentenoic acid on renal phosphate and calcium excretion in the dog.

The effects of 4-pentenoic acid (4-PA) on renal excretion of phosphate and calcium were studied in anesthetized mongrel dogs. The major metabolic action of 4-PA is inhibition of long-chain fatty acid oxidation. In intact dogs undergoing modest saline diuresis, 4-PA caused significant decrease in the percentage of filtered phosphate reabsorbed. No statistically significant calciuria was observed. Similar results were observed in intact dogs undergoing more brisk saline diuresis as well as in acutely and chronically thyroparathyroidectomized dogs. However, when results were pooled, both phosphate and calcium excretions were significantly increased. The results are interpreted as demonstrating the importance of fatty acid oxidation in providing energy for the work of tubular phosphate reabsorption. Either the energy source for calcium reabsorption differs from fatty acid oxodation, or calcium reabsorption is less sensitive to changes in energy sources. The action of 4-PA is independent of the forces involved in saline diuresis and of parathyroid hormone.

Animals↗