[Clinical findings during a 3-year experience in screening newborn infants for congenital hypothyroidism].
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Biomedical subjects
Publications and source records attributed to F De Luca.
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Pituitary testicular function was investigated in 19 prepubertal and in 5 pubertal male thalassaemic patients. Total plasma testosterone in prepubertal and in pubertal patients was significantly lower than in controls. In the prepubertal thalassaemics, the lower total testosterone concentration correlated with the diminished sex hormone binding globulin binding capacity (SHBGcap), and the free testosterone levels were normal. The lower testosterone is probably due to the damaged liver function rather than to a diminished testicular function. In the pubertal patients, the testosterone reduction is equally due to the SHBG bound testosterone fraction and the free testosterone fraction. Basal and LHRH stimulated plasma gonadotrophin levels were also significantly decreased in the pubertal subjects. The observed hypotestosteronemia in the pubertal thalassaemics seems to depend on the impaired pituitary gonadotrophin secretion probably due to the chronic iron overload.
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With ever increasing frequency potentially dangerous interactions are reported between Cardiac Glycosides and other drugs, particularly the antiarrhythmic one. The AA, carried out this work with the intent of studying the possible modifications produced by Q and A on the SDL. First of all the AA. retrospectively studied the SDL of patients treated with the associations Q-D and A-D and this SDL was compared with the SDL of patients treated with D alone. Then 10 subjects treated sequentially, at first with D alone and after with the Q-D (5 p.) and A-D (5 p.) association, were studied. The results obtained confirm the data of other AA. regarding the Q-D interaction; in fact, in the presence of this antiarrhythmic drug, the SDL increase significantly following the concomitant pharmacological effects of the Cardiac Glycosides. The SDL on the contrary seem not be influenced by the A-D association. The AA. then reviewed the literature about the mechanism of the Q-D interaction. The majority of the AA. agree outlining a reduction of the Volume of Distribution and of D Clearance, in consequence of the concomitant administration of Q, which would explain the high SDL obtained. In conclusion the AA. suggest, when the Q-D association is mandatory, a 50% reduction of the D maintenance dose and to check periodically the ECG and SDL.
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We report the case history of a child with congenital adrenal hyperplasia which was complicated by recurrent hypoglycaemic episodes during common infections. There are few reports in literature on the association of hypoglycaemia and congenital adrenal hyperplasia. In accordance with others, we believe that hypoglycaemic attacks in adrenal hyperplasia are perhaps more frequent than recorded in literature.
Two siblings from a consanguineous family, suffering from nephrocalcinosis and nephrolithiasis caused by idiopathic hypercalciuria are described. The condition is associated with bilateral macular colobomata and tapeto-retinal degeneration. It is known that the latter can occur together with different nephropathies; however, until now it has never been described in combination with idiopathic hypercalciuria. Blood calcium levels were found to be normal, calcium excretion rates were, with one exception, more than 6 mg/kg/24 h corrected for 100 ml GFR. Hypomagnesemia of 1.5 and 1.2 mg/dl and hyermagnesuria of 1.9 and 2.5 mg/kg/24 h corrected for 100 ml GFR were found in both patients. Tubular phosphate reabsorption reached 87% and 84% at serum parathormone levels of 0.34 microgram/l and 0.31 microgram/l in the two patients, respectively. Under calcium and magnesium loading the clearance rates of calcium and magnesium were raised whilst there was only a small insignificant increase in the blood levels of these cations. Acid-base titrations showed normal excretion rates of acid and base in one patient and a mild proximal tubular acidosis in the other. Quantitative investigation of the renal concentrating and diluting capacity established a decrease in the formation of the medullary concentrating gradient in both patients.
The authors have studied the pancreas of a premature female infant born to a diabetic mother. The findings included a peri-insular eosinophilic leucocyte infiltration, macropolinesia and a marked increase in B cells. In the exocrime parenchyma small B cells aggregates were also observed. B cells contained voluminous hypercromatic muclei and degranulated cytoplasm. Morphometric data demonstrated an increase in islet tissue. These morphological findings are indicative of excessive insulin secretion. The presence of eosinophilic leucocytes in pancreatic tissue and the pathogenic mechanism involved are discussed.
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The endocrine pancreas of a corticosteroid-treated infant during the course of nephrotic syndrome was morphologically studied. Islet cell hyperplasia and dispersed endocrine cell aggregates between acinar tissue were observed. A marked numerical increase of B cells was identified by using cytochemical and immunofluorescent methods. Morphometric data support the morphological observations. The findings suggest that corticosteroid treatment induces endocrine cell replication and neogenesis.
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