[Measurement of nasal resistance using an oscillation method in 176 health children].
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Airway Resistance↗
Biomedical subjects
G Fiorelli
Publications and source records attributed to G Fiorelli.
ATP and ADP content of human ejaculated spermatozoa. I. Relationship with semen physical parameters in normal donors and oligozoospermic patients.
ATP and ADP were measured by a bioluminescent method in human ejaculated spermatozoa from 31 normal donors and oligozoospermic patients. ATP and ADP expressed for the sperm total number were significantly correlated (P less than 0.001). ATP snd ADP levels were found significantly correlated with the total motile spermatozoa and with the total viable cells (respectively P less than 0.001 and P less than 0.001 for ATP and P less than 0.001 and P less than 0.001 for ADP). ATP/ADP ratio was found significantly lower in subjects with sperm motility less than 50% (P = 0.024) and total viable cells less than 80% (P = 0.026).
Adenosine Diphosphate↗
ATP and ADP content of human ejaculated spermatozoa. II. Time-dependent changes after ejaculation.
ATP and ADP content of ejaculated spermatozoa of 7 donors were measured by a bioluminescent method within 24 h. The semen samples were kept at room temperature and at prefixed time were tested for motility and viability and extracted for ATP and ADP measurement. ATP pattern in relation to the time was studied with a mathematical model and the resulting curve showed a very high significance (P less than 0.001). ADP decrease with time was not significant and was variable among our subjects. The relationship between ATP decrease (%) and the decrease (%) of viability and motility was not linear, and till now no mathematical model has been found to express this phenomenon.
Adenosine Diphosphate↗
Glucose-6-phosphate dehydrogenase deficiency: genetic heterogeneity in Sardinia.
Glucose-6-phosphate dehydrogenase (G6PD) was partially purified from red blood cells of 44 Sardinian males with severe enzymatic deficiency and the variants characterized chromatographically and biochemically to see if there is genetic heterogeneity of the enzyme in Southern Sardinia. Three different variants associated with severe G6PD deficiency were identified: the common G6PD Mediterranean variant; G6PD Sassari, recently described by Testa et al. (1980), and a new variant that we have designated G6PD Cagliari. Family studies were carried out to demonstrate that these variants are due to the presence of different alleles.
Chromatography, Ion Exchange↗
The iron status of Italian subjects with beta-thalassemia trait.
Serum iron, transferrin saturation, serum ferritin and urinary iron excretion have been tested in a group of Italian subjects with beta-thalassemia trait. A number of these subjects, mostly men, had signs of increased iron load. Serum ferritin was the most sensitive index among those measured for detection of iron overload and was positively correlated with desferrioxamine-induced urinary iron excretion. Italian males with beta-thalassemia trait may be at high risk of developing iron overload even without prolonged iron or transfusional therapy.
Adolescent↗
Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin.
The interaction between beta(0) thalassemia and an heterocellular form of hereditary persistence of fetal haemoglobin (HPFH), presumably of the Swiss type, has been studied in three generations of a family in which both traits occur. The haematological parameters and the segregation of the two characters in the family suggest that the propositus, a 52-year-old male from southern Sardinia, is homozygous for beta(0) thalassemia and carrier of the HPFH. In spite of the complete suppression of adult haemoglobin synthesis, the patient is not anaemic and shows only morphological abnormalities of the red cells associated with a moderate decrease of the erythrocyte life span. Studies of the synthesis of haemoglobin chains in vitro have revealed only a mild degree of unbalance in the propositus, with a gamma/alpha ratio of 0.67, and a very slight unbalance in a 3-year-old child heterozygous for beta thalassaemia and HPFH. Preliminary analysis of the linkage between this kind of heterocellular HPFH and the beta Hb locus has been performed, utilizing all the suitable families reported in the literature. Although positive lod scores (1.535) have been obtained at a recombination fraction of 0.20, the data available are not sufficient to conclude in favour or against the linkage between the beta Hb locus and the heterocellular type of HPFH.
Adolescent↗
Spermatic and peripheral oestradiol levels in patients affected by azoospermia due to seminiferous tubular damage.
Plasma levels of testosterone, androstenedione and oestradiol were determined in the spermatic venous blood of both testes of 17 patient affected by azoospermia due to tubular damage (Group I). The results were compared with those found in 5 patients affected by azoospermia of obstructive origin and 5 patients with an inguinal hernia (Group II). Mean spermatic levels of testosterone and androstenedione were not significantly different in the two groups, while the mean (+/- SE) oestradiol spermatic level was significantly higher in patients of Group I (5.02 +/- 0.75 nM/l vs. 2.20 +/- 0.365 nM/l; P less than 0.05). Moreover, while the testosterone/androstenedione and the androstenedione/oestradiol ratios were not significantly different in the two groups, the mean (+/- SE) testosterone/oestradiol ratio was significantly lower in patients of Group I (552.71 +/- 80.94 vs. 939.86 +/- 129.45; P less than 0.025). Peripheral testosterone and androstenedione mean levels were not significantly different between the two groups while the mean peripheral oestradiol level (+/- SE) was significantly higher in Group I (0.107 +/- 0.021 nM/l vs. 0.038 +/- 0.05 nM/l; P less than 0.025). Peripheral oestradiol was not significantly related to peripheral FSH, nor to spermatic oestradiol in both groups. These results suggest the possibility that oestradiol may be involved in the pathogenesis of some cases of male infertility.
Adult↗
Alpha 1-antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis.
Forty-seven Italian patients suffering from hepatocellular carcinoma (HCC) and 58 patients with chronic active hepatitis (CAH) were screened for alpha 1-antitrypsin (alpha 1 AT) levels and types and compared with a previously screened healthy Italian population. Serum alpha 1 AT concentrations were significantly raised among the HCC patients compared to the controls, whereas the CAH group showed no differences. The incidence of non-M phenotypes (MS, MZ and S) is significantly higher in patients with HCC than in the CAH group and the controls. The mean age of HCC patients with a non-M phenotype is significantly lower than the mean age of HCC patients with an M phenotype.
Adult↗
Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred.
Thirty-four members of a single Sardinian kindred with lecithin-cholesterol-acyltransferase deficiency have been studied. The kindred spans four generations and the parents of the two affected siblings are blood relatives. Segregation of the acyltransferase deficiency gene in the family clearly demonstrated an autosomal recessive mode of inheritance. Thirteen family members, including all obligate heterozygotes, had roughly half-normal acyltransferase activities (mean +/- S.D. = 0.39 +/- 0.06 mU/ml) when compared to 17 intrafamilial controls and spouses (mean +/- S.D. = 0.72 +/- 0.09 mU/ml) and 40 blood donors from Marburg/Lahn (mean +/- S.D. =0.76 +/- 0.1 mU/ml). Characterization of the heterozygotes did not reveal abnormalities in their plasma lipoproteins. LCAT deficiency and the beta-thalassaemia trait coexisting in this kindred segregated independently.
Consanguinity↗
Non-specific iron in patients with beta-thalassaemia trait and chronic active hepatitis.
A non-specific iron fraction, not bound to transferrin, has been looked for in the sera of 42 never-transfused patients with beta-thalassaemia trait, 17 of whom had chronic active hepatitis, negative for HBV infection or alcohol abuse. Non-specific iron was found only in the sera of those patients with beta-thalassaemia trait plus chronic active hepatitis who had complete transferrin saturation, high serum ferritin levels and urinary iron excretion and a high degree of hepatic siderosis. In view of the known toxicity of non-transferrin iron, we suggest that this non-transferrin iron fraction may be responsible for the liver damage in these patients. Furthermore, the positive correlation between the presence and the amount of non-transferrin iron and the levels of serum ferritin suggests that this fraction is a sensitive indicator of iron-induced toxicity when severe iron overload slowly develops in patients with beta-thalassaemia trait even in the absence of any iron administration.
Adult↗
Chronic liver disease in transfusion-dependent thalassemia: liver iron quantitation and distribution.
The quantitative and/or qualitative distribution of liver iron was assessed in 81 transfusion-dependent thalassemia major patients with chronic liver disease (36 with chronic active hepatitis, 23 with chronic persistent hepatitis, 22 with siderosis). Viral marker studies showed only 3 cases with both HBsAg and anti-HBc positivity in the serum, while the others had anti-HBc and anti-HBs or only anti-HBs or no B viral markers. A significantly higher iron overload was found in chronic hepatitis, particularly chronic active hepatitis, than in siderosis. The increased iron overload may be due to less intensive chelation treatment, higher intestinal absorption secondary to lower mean Hb levels, and/or to liver inflammation-dependent iron deposition. The liver iron overload in turn amy facilitate the development or persistence of chronic progressive liver disease.
Adolescent↗
Spermatic and peripheral plasma concentrations of testosterone and androstenedione in prepubertal boys.
Spermatic and peripheral plasma concentrations of testosterone (T) and androstenedione (A) have been measured in prepubertal boys affected by inguinal hernia (group I; n = 7) and unilateral undescended testis (group II; n = 18). Mean (+/- SE) spermatic T concentrations (47.7 +/- 14.8 ng/dl in group I; 36.3 +/- 3.4 ng/dl in group II) were significantly different from mean peripheral T concentrations (9.8 +/- 2.1 ng/dl in group I; 9.3 +/- 0.9 ng/dl in group II) in both groups (P less than 0.05 and P less than 0.0005, respectively). Mean spermatic A concentration (59.7 +/- 4.9 ng/dl) was significantly higher than mean peripheral A concentration (49.8 +/- 4.9 ng/dl) in group II (P less than 0.05) but not in group I. Mean spermatic and peripheral T and A values found in boys of group I were not significantly different from those found in group II. The mean spermatic/peripheral T ratio was higher (5.01 in group I; 4.42 in group II) than the corresponding mean spermatic/peripheral A ratio (1.27 in group I; 1.32 in group II) in both groups. Our data suggest that 1) although testicular T secretion is present in all prepubertal boys, A secretion is not constant and often negligible; 2) the contribution of testicular secretion to the circulating T is much more important than the contribution to the circulating A; 3) no significant differences were found between the testicular secretory pattern of prepubertal boys with inguinal hernia and unselected boys with unilateral undescended testis.
Androstenedione↗
Measurement of 5 alpha-androstane-3 alpha, 17 beta-diol in human spermatic venous plasma by mass-fragmentography.
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Androstane-3,17-diol↗
Plasma dehydroepiandrosterone sulphate in hypothyroid premenopausal women.
Plasma dehydroepiandrosterone sulphate (DHEAS), cortisol (F) and prolactin (PRL) were measured in seventeen premenopausal women with primary hypothyroidism and in fifteen normal premenopausal women. Significantly lower (P < 0.001) DHEAS levels were found in hypothyroid women while F and PRL were in the range of normal controls. No significant relation was found between DHEAS and total thyroxine (T4) and TSH. Our results support the hypothesis that DHEAS secretion is impaired in some women with primary hypothyroidism.
Adult↗
Chronic liver disease in transfusion-dependent thalassaemia: hepatitis B virus marker studies.
The systematic screening of 253 children with transfusion-dependent homozygous beta-thalassaemia revealed a high incidence of hepatitis B virus markers. The highest frequencies of hepatitis B surface antigen (HBsAg) and antibody to hepatitis B core antigen (anti-HBc) were found in the group of patients with the smallest number of transfusions, while the highest frequency of antibody to hepatitis B surface antigen (anti-HBs) was detected in the patients who had had the largest number of transfusions. Follow-up of these patients showed (a) a high incidence of acute hepatitis B, which was mainly subclinical; (b) normal hepatitis B surface antigen clearance and normal antibody to hepatitis B surface development; and (c) a high frequency of increased transaminase values for over six months. In all the subjects with persistently high transaminase, histological examination revealed chronic persistent hepatitis or chronic active hepatitis. Apart from two cases of chronic active hepatitis with no B virus markers, and two cases of chronic persistent hepatitis with HBsAg and anti-HBc in the serum, all these subjects were anti-HBs positive but HGsAg and anti-HBc negative.
Adolescent↗
Human testicular secretion with increasing age.
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Adult↗
Seminal plasma levels of testosterone and 5 alpha-dihydrotestosterone in azoospermic patients.
Testosterone (T) and 5 alpha-dihydrotestosterone (DHT) have been measured in seminal plasma of sixteen azoospermic patients with tubular damage (germinal cell arrest or Sertoli cell only syndrome) and five patients affected by azoospermia of obstructive origin. In both groups T values were not significantly different from controls, while DHT was significantly lower in patients affected by azoospermia of obstructive origin.
Dihydrotestosterone↗
Evaluation of T and B lymphocytes in liver infiltrates of patients with chronic active hepatitis.
The proportions of T and B lymphocytes in the liver infiltrates of 23 patients with chronic active hepatitis have been determined. The results were compared with the values obtained from peripheral blood and with the presence of HB virus markers and alpha-fetoprotein in liver tissue. A group of patients with chronic liver disease other than chronic active hepatitis were studied as controls. In chronic active hepatitis the percentage of hepatic T cells was 49 +/- 8 SD (control patients 61 +/- 8) (P less than 0.01), whereas the percentage of B cells was 40 +/- 10 (control patients 18 +/- 8) (P less than 0.01). No correlation was observed between hepatic T and B cells and the presence of HB virus. The numbers of T cells in liver tissue was significantly higher, the numbers of B cells lower, in patients whose biopsies were positive for alpha-fetoprotein than in those whose biopsies were negative. In peripheral blood, only the patients with chronic active hepatitis and established cirrhosis presented lower absolute values of T cells, whereas surface immunoglobulin-positive lymphocytes were within the normal range.
Adolescent↗