ABSTRACT
This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.
Subject(s)
Globins/genetics , Thalassemia/genetics , Child , Child, Preschool , Chromosome Deletion , Female , Hemoglobin A2/genetics , Humans , Male , PhenotypeABSTRACT
The influence of potassium nitrate on the formation of nitrosamines in salami was studied. Samples of salami were prepared, with and without the addition of potassium nitrate. Under the conditions of the experiment, potassium nitrate did not represent a source of either nitrite or nitrosamines. Independently of the presence of potassium nitrate in the sample formulation, the growth of bacterial flora reached a maximum in the first 20 days of the ripening process.
Subject(s)
Food Microbiology , Nitrates/metabolism , Nitrosamines/metabolism , Potassium Compounds , Bacteria/growth & development , Bacteria/metabolism , Meat , Nitrates/pharmacologyABSTRACT
Three baby girls between 22 and 30 months of age, presenting with isosexual idiopathic precocious puberty apparently not due to any organic cause, were studied. Basal levels of plasma steroids of adrenal and gonadal origin, circadian rhythm of plasma cortisol, and pituitary response to 25 microgram of LHRH were evaluated. All cases were characterized by high levels of plasma gonadotropins and by a marked response to exogenous LHRH. Normal cortisol circadia rhythm was found in all cases, one of which characterized by slightly raised plasma values. The other adrenal steroids were all higher than those expected for the chronological age, corresponding to those of 5-6 years old girls. On the other hand, steroids of both adrenal and ovarian (A, T) or mainly ovarian origin (E2) and DHT were all found to be higher than those normally reported in girls at stage 2 of sexual development. These data indicate a hypersecretion of gonadotropins in idiopathic isosexual precocious puberty, with a marked gonadal steroidogenetic response. The secretion of adrenal androgens does not appear to have an important role in the etiology of this condition.
