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Biomedical subjects

G Chiumello

Publications and source records attributed to G Chiumello.

At least 145 records · Page 8Linked to original sources
PubMed1984

Metabolic control in newly diagnosed type 1 diabetic children. Effect of continuous subcutaneous infusion.

15 insulin-dependent diabetic children at onset were randomly allocated to one of two different therapeutical protocols: continuous subcutaneous insulin infusion (CSII) and intensified conventional insulin treatment with three daily insulin injections (CIT). Both treatments were performed for 10 days; the initial insulin dose was 1.5 U/kg/day and thereafter the insulin dosage was modified in order to obtain a satisfactory control. Near-normal blood glucose levels were obtained after 24 h in the CSII group, and after 3 days in the CIT group. All subjects underwent 1 year of follow-up. HbA1 levels and insulin requirements decreased similarly in the two groups; C-peptide secretion did not increase significantly in both groups. A clear advantage of CSII cannot be assumed, and the usefulness of this therapeutical approach needs to be confirmed by further investigations.

Adolescent↗
PubMed1984

Ventilatory volumes, flow rates, transfer factor and its components (membrane component, capillary volume) in obese adults and children.

We have studied the ventilatory volumes, flow rates, transfer factor and its components (membrane component and capillary volume) in 19 women and 23 children with moderate obesity. The adults showed restrictive defects, but the pulmonary volumes of children were within normal range. Peak flow, flows at 75 and 50% forced expiratory volume, in two groups, normalized for the forced expiratory volume, did not differ between the two groups. The transfer factor was reduced in adults, because of reduction of the alveolar volume, the membrane component was low in both groups; transfer factor and membrane component normalized for functional residual capacity were not different between the two groups. The capillary volume was greater in children than adults, because the excess body weight was greater for the children. In simple obesity, the main alteration is the decrease of distensibility of the chest wall that becomes worse as time goes on and is the cause for the alterations in ventilatory volume, flow and transfer factor.

Adult↗
PubMed1984

Free thyroid hormones in evaluating persistently elevated thyrotropin levels in children with congenital hypothyroidism on replacement therapy.

Some children with congenital hypothyroidism receiving L-T4 therapy have elevated serum TSH levels despite having normal serum T4 concentrations, suggesting that they have a higher threshold for the feedback regulation of TSH release. To further study this possibility, we determined serum free T4 (FT4) and T3 (FT3) concentrations in two groups of L-T4-treated hypothyroid children. Group A consisted of 10 patients with high serum TSH levels; group B consisted of 10 patients with normal TSH levels. All patients were clinically euthyroid, and serum total T4 and T3 concentrations were similar in the two groups. A third (control) group (C) consisted of randomly selected normal children. The three groups were age matched. Serum FT3 and FT4 were significantly lower in group A compared to group B. Serum FT4 and T4 were higher and TSH was lower in group B compared to group C. The T4/T3 ratio wash higher in both groups of children with hypothyroidism than in group C. We conclude that in most patients a high serum TSH was due to inadequate L-T4 therapy, as shown by free hormone concentrations (low) but not by total hormone levels (normal). This suggests that L-T4 therapy should be monitored by measurement of TSH and free hormone concentrations. The latter also can be used to indicate moderate overdosage, not clinically detectable, as shown by the comparison between groups B and C. Measurement of serum total T4, as indicated by the lack of difference between groups A and B and also by T4/T3 ratio, cannot be considered a reliable index of therapeutic adequacy in such children.

Child↗
PubMed1984

Wedge-shaped epiphyses of the knees in two siblings: a new recessive rare dysplasia?

A peculiar form of metaphyseal dysplasia, mainly of the lower limbs, occurred in two male siblings born to healthy, unrelated parents. The clinical and radiological features were short stature, psychomotor retardation, accelerated bone maturation, the limbs and especially the knees showing cup-shaped widening of the ends of the metaphyses and wedge-shaped widening of the epiphyses. This condition does not fit the description of any syndrome reported so far and may therefore be classified as a new recessive dysplasia.

Bone Diseases, Developmental↗
PubMed1982

Insulin resistance in a child with Acanthosis nigricans type A.

The patient, a female 6 years 4 months old, diagnosed as affected by Acanthosis nigricans and diabetes mellitus was referred to our Clinic for further investigation of her glucose metabolism. She had a typical face with hypertelorism, prognathism, macroglossia and large auricles. The skin was hyperpigmented, verrucous, hyperkeratotic especially in the folds and flexural areas with small papillomatous or nodular growth; diffused hypertrichosis and hypertrophic clitoris were also present. Biochemical and hormonal investigations revealed no major abnormalities apart from glucose metabolism. After an unsuccessful trial with conventional insulin therapy, endovenous continuous insulin infusion was started: even with 32 U/kg/h it was not possible to achieve normoglycemia. Insulin receptors were studied on erythrocytes: 125I-insulin binding (specific) was clearly lower than normal. The concentration of insulin receptors was reduced, while the average affinity profile was normal. The study of erythrocyte insulin receptors has demonstrated that insulin resistance in this patient is due to a decrease in the number of receptors, i.e. Acanthosis nigricans type A.

Acanthosis Nigricans↗
PubMed1981

HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency.

HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype.

Adrenal Hyperplasia, Congenital↗
PubMed1981

Pancreatic endocrine function in leukemic children treated with L-asparaginase.

The effect of arginine infusion on blood glucose and plasma levels of insulin, C-peptide and glucagon has been studied in leukemic children before and after treatment with L-asparaginase (10,000 U/m2/day for 10 days). Therapy induced a significant reduction in basal and peak blood glucose, insulin and C-peptide levels, while glucagon was unmodified. The conserved C-peptide-insulin molar ratio suggests the interference of L-asparaginase with proinsulin synthesis. In conclusion our results prove a decreased insulin reserve with a preserved, although reduced, beta-cell function.

Asparaginase↗
PubMed1981

Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.

Cryptic 21-hydroxylase deficiency has been previously described in asymptomatic family members of patients with classical congenital adrenal hyperplasia (CAH). These family members were detected by high baseline 17-hydroxyprogesterone levels found in the course of family studies. The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population. The ACTH-stimulated levels of 17-hydroxyprogesterone and delta 4-androstenedione in the cryptic family members were elevated above the level of the general population or family members heterozygous for classical CAH, but below that of patients with CAH. The hormonal profile of patients with cryptic 21-hydroxylase deficiency is similar to that of patients with acquired adrenal hyperplasia. The response of family members heterozygous for the cryptic gene (21-OH CRYPTIC/21-OH NORMAL) was indistinguishable from that of family members heterozygous for the classical CAH gene (21-OH CAH/21-OH NORMAL). These studies support our previous proposal that patients with cryptic 21-hydroxylase deficiency are genetic compounds, having one gene for a severe enzyme deficiency and one gene for a mild 21-hydroxylase deficiency. Thus, the 21-hydroxylase genotype in cryptic 21-hydroxylase deficiency is 21-OH CAH/21-OH CRYPTIC.

Adolescent↗
PubMed1981

HLA linkage and B14, DR1, BfS haplotype association with the genes for late onset and cryptic 21-hydroxylase deficiency.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) has been established to be an HLA-linked, recessive monogenetic disease. However, two nonclassical forms of 21-OH-def have also been described: "cryptic" 21-OH-def, which has been shown to be HLA-linked, and "late onset" 21-OH-def, for which the status of linkage to HLA has been less certain. We now describe studies of eight additional unrelated probands with symptomatic, "late onset" 21-OH-def, and conclude that this form is also HLA-linked. Both "late onset" and "cryptic" 21-OH-def are highly associated with the same HLA antigens and markers (HLA-B14, HLA-DR1, and Bf type S) in individuals from different ethnic and geographical backgrounds. Since both "late onset" and "cryptic" 21-OH-def appear to occur in individuals with one classical 21-OH-def (21-OHCAH) allele who in addition have another 21-OH-def allele, as well as in individuals who appear to be homozygous for variant 21-PH-def alleles, and since both late onset and cryptic 21-OH-def appear to occur in the same families, our data suggest that these syndromes may represent different clinical expressions of similar or identical nonclassical 21-OH-def alleles.

Adolescent↗
PubMed1980

C-peptide response to arginine stimulation in diabetic children.

The extent and the clinical significance of residual beta cell function has been evaluated by radioimmunoassay of C-peptide in 41 diabetic children in different stages of evolution, using an arginine tolerance test. In control subjects a significant rise of C-peptide levels occurred after the infusion with arginine. In patients at the onset of the disease and in patients not in the remission stage, C-peptide levels showed no increment and basal values were significantly lower than in healthy control children. Children during the remission phase showed basal and peak values not significantly different from controls. A positive correlation was found between highest CPR levels compared to basal CPR values and to the age at onset of diabetes; a negative correlation was found between the duration of the disease and insulin requirement.

Arginine↗
PubMed1980

Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.

Serum androgens and 17-hydroxyprogesterone concentrations and HLA genotypes were determined in 124 families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). In 8 pedigrees, we discovered 16 pubertal or postpubertal family members of either sex who had biochemical evidence of 21-hydroxylase deficiency but were without clinical symptoms of excess virilism, amenorrhea, or infertility. We designated these family members as individuals with cryptic 21-hydroxylase deficiency. Within each generation, the family members with cryptic 21-hydroxylase deficiency were HLA identical. It is proposed that these family members are genetic compounds, having 21-hydroxylase deficiency as a result of two recessive gene defects: 1) a severe 21-hydroxylase gene defect present in the index case with classical CAH (21-OHCAH) and 2) a mild 21-hydroxylase gene defect (21-OHCRYPTIC). Thus, the CAH genotype in the family members with cryptic 21-hydroxylase deficiency is 21-OHCAH/21-OHCRYPTIC. Lod score analysis for linkage between the cryptogenic 21-OH trait and HLA gave a combined Lod score for males and females of theta = 0.00 of 3.409. Close genetic linkage between HLA and 21-OHCRYPTIC was thus established. This study provides support for the previously reported heterogeneity of 21-hydroxylase deficiency which may result from allelic variability at the locus for steroid 21-hydroxylase.

17-alpha-Hydroxypregnenolone↗
PubMed1979

Epidemic of breast enlargement in an Italian school.

An outbreak of breast enlargement in girls and boys attending a school in Milan, first noted in November, 1977, was followed up until the end of 1978. 213 boys aged 3-14 years and 110 girls aged 3-7 years were studied; control children attending five other schools were also examined. In total 1647 boys and 476 girls were examined. Breast enlargement was significantly more common in boys (29.0%) and girls (21.6%) aged 3-5 years, boys (58.0%) aged 6-10, and girls (67.1%) aged 6-7 from the school in Milan, than in age and sex matched children at control schools. Breast enlargement was not pronounced and disappeared within 8 months. Hormonal determinations were within normal limits except for 17 beta-oestradiol which was slightly raised. Although oestrogen contamination was not detected when samples of school meals were tested, an uncontrolled supply of poultry and beef was suspected as being the cause of this outbreak.

Adolescent↗
PubMed1979

Familial XX true hermaphroditism and the H-Y antigen.

Two 46,XX sibs, one of female, one of male gender, and both with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance. The common origin and the nature of the mutation leading to XX sex reversal are discussed.

Adolescent↗
PubMed1979

Platelet aggregation and antithrombin III levels in diabetic children.

We studied platelet function and antithrombrin III levels in 30 insulin-dependent diabetic children with no clinically evident vascular complications. 9 were in-patients and 21 were out-patients. The disease had been discovered within the previous 10 years. 25 control subjects of comparable age and body weight were studied simultaneously. Template bleeding time, threshold concentrations of ADP or adrenaline required to induce irreversible platelet aggregation and plasma antiherparin activity (platelet factor 4) did not differ significantly in control and patient groups. In contrast, the immunological levels of plasma antithrombine III were significantly higher in the diabetic group. These results suggest that diabetic children, with no clinical signs of microanigopathy, show no laboratory changes suggesting increased platelet function. The unxpected increase in the antithrombin III level could reflect a very early defense mechanism against activation of the blood clotting system.

Adenosine Diphosphate↗
PubMed1979

Type 1 diabetes and Coxsackie virus infection.

The role played by viruses in the aetiopathogenesis of type 1 diabetes mellitus has been studied by several authors; in particular the importance of Coxsackie virus B4 infection has been stated by some authors and not confirmed by others. 43 diabetic children were studied at the time of the diagnosis of the disease. No viruses could be isolated from stools; the titres of anti-Coxsackie viruses B1 to 6 complement fixing antibodies and anti-Coxsackie virus B4 neutralizing antibodies, compared to controls, indicated that Coxsackie virus infection was not associated with the onset of diabetes in these children. A cross-reaction with anti-Coxsackie viruses sera and a human pancreas demonstrated that there are not antigens in common between these viruses and the human pancreas.

Adolescent↗