Bartter's syndrome with impairment of growth hormone secretion.
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Biomedical subjects
Publications and source records attributed to G Zoppi.
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39 normal full term infants were fed during the first four months of life with three different diets based on the same formula of heated soy-flour fortified with DL-methionine. Each diet supplied 100 kcal/kg/day and gave about 2.5 (11 infants), 4.0 (19 infants) or 5.5 (9 infants) g/kg/day or soy-protein. After four months, growth was slightly lower in infants fed 2.5 g/kg/day of protein but was similar in the other two groups. Haematological parameters were in the normal range in all three groups. Serum gammaglobulin and immunoglobulin levels increased with the increase of dietary protein. The highest levels of gammaglobulin (0.51 +/- 0.16 mg/100 ml) and IgG (463.13 +/- 210.17 mg/100 ml) were observed in infants fed 5.5 g/kg/day of soy-protein and were similar to those previously observed in infants fed 2.5 g/kg/day of cows-milk protein. Morbidity was reduced with the increase of serum gammaglobulin and immunoglobulins.
In six infants aged between 5 and 8 months with vitamin D deficient rickets, we have studied blood levels of calcium (Ca), phosphorus (P), alkaline phosphatase, immunoreactive parathyroid hormone (PTH) and calcitonin (CT), as well as urinary excretion of Ca, P, hydroxyproline and cyclic AMP, both under basal conditions and during a 4h infusion of 20 mg/kg 10% Ca gluconate in normal saline. Under basal conditions all the infants had high alkaline phosphatase (range: 470--770 U.I./1); PTH (range: 620--1200 pg Eq/ml) and CT (range: 440--750 pg/ml) but two infants had hypocalcaemia and four had normocalcaemia and hypophosphataemia. The urinary Ca excretion was low whereas the urinary P, hydroxyproline and cyclic AMP excretions were high. During Ca infusion the total serum Ca and CT levels increased, while alkaline phosphatase and PTH fell. After the end of the infusion, CT levels fell perceptibly; phosphaturia, hydroxyprolinuria and cyclic AMP decreased on the day of the infusion.
Volume, total titrable acidity, total proteolytic activity and pepsin activity have been determined in 14 coeliac patients and in 8 controls of comparable ages and body weights. Basal secretion (B.O.), total outputs (T. O.) and peak outputs (P.O.) after pentagastrin injection have been determined. Peak outputs (values 60 min/kg) of these parameters are as follows: volume 5.0+/-1.7 ml in coeliacs, 4.3+/-1.2 ml in controls; total titrable acidity 406.1+/-155.0 mEq in patients, 296.1+/-182.4 in conttrols; total proteolytic activity 962.1+/-501.1 micronEq in coeliacs, 569.6+/-272.2 in controls; pepsin activity 789.1+/-521.8 micronEq in patients, 447.6+/-150.4 in controls.
Blood glucose, insulin, C-peptide and glucagon were evaluated in 36 newborn term infants at birth, and before and 60 min after the first feed during the first day of life. Under basal conditions glycaemia diminished during the first day of life and glucagon increased, while insulin and C-peptide did not show any variation. The C-peptide: insulin molar ratio was higher in the newborn than in adults because of the longer half-life of C-peptide, probably due to reduced renal function in the neonatal period. The subjects were divided into two groups: 18 newborn infants were given a feed of commercially available milk powder reconstituted in water at 10% (5 ml/kg); the other 18 were given a feed of 5 ml/kg 10% glucose solution. In each group 6 were given the first feed after a fast of 6 h, 6 after a fast of 12 h and 6 after a fast of 24 h from birth. After the first feed with milk, the average increase of glycaemia was 19.83 mg%, of insulin 6.06 muU/ml, and of C-peptide 1.88 ng/ml. After the first feed with glucose the average increase of glycaemia was 13.59 mg%, of insulin 2.46 muU/ml, and of C-peptide 0.59 ng/ml. Glucagon did not show significant changes after the first feed.
In six infants aged between 4 and 8 months with chronic renal failure, we have studied blood levels of calcium (Ca), phosphorus (P), alkaline phosphatase, immunoreactive parathyroid hormone (PTH), and calcitonin (CT), as well as urinary excretion of Ca, P, hydroxyproline and cyclic AMP under basal conditions and during an infusion of 20 mg/kg of 10% Ca gluconate in normal saline over 4 h. Under basal conditions four infants had normal serum Ca and P values, alkaline phosphatase levels at the upper limit of normal, and very high PTH (range: 1450--2550 pg Eq/ml) and CT (range: 700--1900 pg/ml) levels. The urinary Ca excretion was low, whereas the urinary excretion of P, hydroxyproline and cyclic AMP was high. During Ca infusion, the total serum Ca and CT levels increased, PTH fell without however reaching the normal upper limit, and urinary P and cyclic AMP excretion decreased. In two infants with osteodystrophy and the highest levels of PTH (2900 and 3500 pg Eq/ml respectively) there was no suppression of PTH during Ca infusion.
Qualitative and quantitative evaluation of aerobic and anaerobic faecal flora was determined by a new and easy method. 10 microliter of 12 ten-fold dilutions in saline of samples of faeces were plated on the surface of culture media solidified in wells of sterile virology plexiglass plates (diameter 16 mm; 0.5 ml culture media) and incubated at 37 degrees C for 24 h. The same dilutions and the same plexiglass plates were used under anaerobic conditions for analysis of anaerobic flora (under atmosphere of N2 85%, CO2 10%, H2 5%, negative pressure, at 37 degrees C for 48 h). The analysis was performed on 35 healthy breast-fed newborn infants, 1--6 days old. After birth, the meconium in sterile; already at 25 h of life some bacterial species (Lactobacilli, Bifidobacteria, Bacteroides) show the maximal concentration in faeces and do not grow afterwards; other bacterial species (Coliforms, aerobic and anaerobic Streptococci) increase gradually during the first week of life. This method gives the same results as the conventional techniques (i.e. Petri dishes), but in an easier and quicker way; therefore it seems useful in clinical practice.
To investigate the possible causes of relatively low blood gamma-globulin levels (less than or equal to 0.5 gm/dl) during the first year of life, 287 patients less than 1 year of age who were suffering from mild diseases were studied retrospectively. They were divided into two groups, those with a gamma-globulin level less than 0.5 gm/dl and those with a gamma-globulin level greater than 0.5 gm/dl. By reconstructing the diets given, it was found that they had been receiving isocaloric diets that differed only in protein supply: patients with lower gamma-globulin levels received 2.9 gm/kg/day of protein and patients with higher gamma-globulin levels received 4.0 gm/kg/day. Fifty-five healthy subjects were studied prospectively during the first year of life on two isocaloric diets that differed only in their protein content: the first one supplied 2.5 gm/kg/day of protein and the second supplied 4.0 gm/kg/day. At approximately 5, 7, and 10 months of age, hemoglobin, total protein, albumin, globulins, immunoglobulins, and other common blood parameters were measured. Patients on the lower protein diet had a gamma-globulin concentration of less than or equal to 0.5 gm/dl and those on the higher protein diet had a gamma-globulin concentration of greater than or equal to 0.8 gm/dl. Immunoglobulin levels, particularly IgG, were lower in patients on the lower protein diet. The subjects with lower protein intake and lower levels of gamma-globulin and immunoglobulins showed significantly higher morbidity.
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Clinical, biochemical, and gastroenterological data have been examined im 48 patients in two age groups, one under 12 months of age, the other between 12 and 30 months with persistent post-enteritis diarrhoea. In these patients, the illness consisted of chronic diarrhoea which followed acute enteritis. It brought about a mild malabsorption syndrome with impairment of growth, particularly in infants under one year of age. Chronic inflammation with mucosal damage due to alteration of the intestinal microflora by inappropriate diets and therapy seemed to be the cause of persistent diarrhoea in these patients.
Five patients aged between 40 and 70 days were admitted to our Clinic with an initial diagnosis of "renal failure", but the high levels of urea nitrogen, metabolic acidosis and oliguria were found to be related to a high renal solute load and to the very high protein and electrolyte content of the diet. By calculating urinary output (V/m'), clearance of osmotically-active substances (COsm), clearance of free water (CH2O), maximum tubular reabsorption of water (TcH2O) and the change in metabolic H+ production, it has been possible to demonstrate that dietary protein and electrolytes were both responsible for the high blood urea nitrogen levels and metabolic acidosis.
The following report concerns a case of malignant osteopetrosis associated with hypocalcemic rickets unresponsive to vitamin D. Parathyroid hormone (PTH) and Calcitonin (CT) secretions were studied in basal conditions and under calcium gluconate infusion, before and after high doses of vitamin D. Basal values (PTH: 690 pg Eq/ml; CT: 560 pg/ml) were found to be much higher than in five control subjects of the same age group, even after vitamin D therapy (PTH: 990 pg Eq/ml; CT:450 pg/ml). Like rickets, PTH and CT secretions do not seem, therefore, to be notably influenced by vitamin D therapy.
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Most important features of puberty are described. The puberty is the age of development of sexual characters. In females it appears between 10 and 15 years +/- 1 year whereas in males signs of puberty are visible between 11 and 15 years. In our country menarche appears at the mean age of 12 years and 2 months +/- 1 year and 2 months. Precocious puberty in females is that which appears before 8 years and 6 months and in males before 10 years. Delayed puberty is that which appears in females after 15 years and in males after 16. Nowadays is possible to keep off puberty when it is too soon by means of an analogous of LH-RH and as the result the subject reaches a better statural growth. The puberty should not be confused with the adolescence which is characterized by psycho-social maturity.
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