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Biomedical subjects

G Chiumello

Publications and source records attributed to G Chiumello.

At least 109 records · Page 6Linked to original sources
PubMed1992

HLA-antigens in Italian type 1 diabetic patients: role of DR3/DR4 antigens and breast feeding in the onset of the disease.

HLA-A, B, C, DR and DQ typing was performed in 381 Italian insulin-dependent diabetic patients and in 905 normal Italian subjects. The diabetic patients had significantly higher frequencies of HLA-Cw7, B8, B18, DR3, DR4, DQw2 and DQw3 and significantly lower frequencies of HLA-B17, Bw51, DR2, DR7 and DRw11. The frequency of heterozygosity for HLA-DR3/DR4 was significantly higher in patients who developed the disease in the first 2 years of life and DR3+/DR4-, DQw2 and DQw3 alleles were higher in those aged less than 14 years at onset. The HLA-DR4 allele was associated with onset of diabetes in autumn and HLA-B18 with onset in Autumn-winter. Diabetic children who were breast fed had a later onset of insulin-dependent diabetes mellitus than those who were bottle fed but these differences were independent of HLA typing (11.8 +/- 0.72 years vs 9.23 +/- 0.42 years; mean +/- SEM). We conclude that: (1) in general, HLA distribution in Italian insulin-dependent diabetic patients reflects previous data reported in other European and North American populations; (2) HLA-DR3 and DR4 are strongly associated with insulin-dependent diabetes in Italy as well, and these alleles seem to predispose to an earlier onset of the disease; and (3) breast feeding may delay the onset of the disease.

Age Factors↗
PubMed1992

A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism.

Persistent neonatal hyperinsulinaemic hypoglycaemia due to nesidioblastosis is a rare condition probably transmitted by an autosomal recessive inheritance. Recurrent hypoglycaemic episodes become evident after birth and cause severe neurological damage without intensive treatment. The intrauterine detection of hypoglycaemia and hyperinsulinism in newborns subsequently diagnosed as affected by nesidioblastosis has not yet been reported. We describe a case of familial nesidioblastosis in which an intrauterine diagnosis could be suggested by high levels of insulin and C-peptide and low values of glucose in the amniotic fluid.

Amniocentesis↗
PubMed1992

Testicular masses in association with adrenogenital syndrome: US findings.

Adrenogenital syndrome (AGS) is the result of inborn enzymatic defects in the synthesis of steroid hormones. The production of cortisol is deficient and that of adrenocorticotropic hormone is increased. Sometimes male patients have clinically detectable testicular lesions, known as testicular tumors of AGS (TTAGS). From 1985 to 1991, scrotal ultrasonography (US) was performed in 30 consecutive pubertal and postpubertal patients with AGS to investigate the prevalence and US characteristics of TTAGS. Eight of 30 patients had a testicular lesion (27%); six of the eight lesions were clinically undetected. The mean diameter of the lesions was 16.44 mm (range, 2-28 mm). The lesions were hypoechoic in all cases, with well-defined margins in six cases. The nodules were multifocal in all patients and bilateral in six (75%). If testicular lesions are present in a patient with AGS, TTAGS are likely, and frequent US monitoring is adequate for diagnostic evaluation.

Adolescent↗
PubMed1992

In vivo demonstration of insulin-receptor defect with 123I-labeled insulin and scintigraphic scanning in severe insulin resistance.

OBJECTIVE: Insulin-receptor function in humans is usually studied in vitro on readily available cells, e.g., erythrocytes and fibroblasts. Although these cells are not metabolically important targets for insulin action, information derived from them are often taken as representative of other tissues. The aim of this study was to investigate insulin receptors in vitro on erythrocytes and in vivo on one of the main insulin-target organs, the liver. RESEARCH DESIGN AND METHODS: A 16-yr-old girl affected by severe insulin resistance was identified. Insulin receptor binding was measured on the erythrocytes of the patient and of 6 nondiabetic volunteers. The biodistribution of 123I-labeled insulin was studied in vivo by scintigraphic scanning in the insulin-resistant patient and in 10 nondiabetic volunteers. RESULTS: Erythrocytes of this patient displayed a markedly reduced [125I]insulin binding. In vivo 123I-insulin biodistribution was characterized by lack of hormone uptake by the liver (4 vs. 21% of the injected dose in control subjects) contrasting with intense accumulation of radioactivity in the kidneys. CONCLUSIONS: Our studies show that defects of insulin binding can be directly demonstrated in vivo on liver receptors with a noninvasive technique with low radiotoxicity.

Adolescent↗
PubMed1992

The prediction of total body water from body impedance in young obese subjects.

Almost all formulae for the prediction of total body water (TBW) from body impedance are based on the assumption of a constant conductor configuration--i.e. a constant subject section. In this paper we report on data obtained for a group of 19 young obese subjects (relative weight greater than 120%) and 10 young normal subjects (relative weight 80-110%). In obese subjects, the application of two different formulae generated from normal children gave biased results and led to an underestimation of TBW with respect to the reference value obtained by deuterium oxide dilution. Body mass index accounted for more than 40% of the inter-individual variability, suggesting that body size was not taken sufficiently into consideration by the predictive formulae used. We have used the body surface area as the anthropometrical parameter for the prediction of TBW from body impedance. The regression formula that we propose (TBW = 1.156 x (surface area/body impedance) - 2.356; R = 0.96), although requiring further validation on external populations, seems to provide a more realistic assessment of TBW in young obese subjects. We therefore suggest that the assessment of TBW in young obese subjects requires specifically designed prediction formulae.

Adolescent↗
PubMed1992

Effect of estrogen replacement therapy on bone mineral content in girls with Turner syndrome.

Because a close relationship between estrogen deficiency and osteoporosis has been proven, it is possible that lifelong estrogen deficiency might be the cause of osteopenia in Turner syndrome. This study was done to characterize the effect of estrogen therapy on bone mineralization in girls with Turner syndrome. Radial bone mineral content values were found to be below the 95% normal confidence interval in 44 of 49 untreated patients, aged 10.82 +/- 3.45 years. An inverse correlation was found between the patients' ages and their delta bone mineral content values. The effect of beginning estrogen treatment early or late was studied in 16 girls who started the treatment before and 11 who started after age 12. Although they were still deficient compared with controls, the first group had better mineralization than the second (P = .0005). Finally, nine patients were followed prospectively during replacement therapy; their bone mineral content delta values changed significantly (P = .02) during the follow-up period (3.17 +/- 0.33 years), but the bone mineral content did not normalize. Our data show that estrogen deficiency per se does not cause osteoporosis in young girls with Turner syndrome. In fact, estrogen therapy prevented bone loss but failed to normalize the low bone mineral content values. Early treatment is preferable because it reduces the bone density deficit present in untreated patients.

Adolescent↗
PubMed1992

[Changes in dynamic respiratory volumes in obese children and adolescents related to weight loss and sex].

Obesity is associated with various alterations in lung function in adults. These alterations appear to be proportional to the degree of EP and the beneficial effect of weight loss on respiratory function has been reported. Therefore, in 35 children and adolescents affected by essential obesity of medium-severe degree, we have evaluated the following parameters: FVC (forced vital capacity), PEF (peak expiratory flow), FEV1 (forced expiratory volume), FEV75, FEV50, FEV25, before and after six months of dieting. Twelve subjects (34%) showed at least a pathologic value of PEF and/or FEV50 before dieting. All the female patients normalized their parameters after six months of dieting, whilst 5 out of 7 males still showed pathologic respiratory indexes, although a similar weight loss was obtained in the two groups of patients. Our study enhances the presence of respiratory functions derangements in a significant percentage of children with medium-severe degree of obesity. A careful monitoring of these subjects is therefore necessary, in order to prevent further progression of the lung function damage. After dieting the pulmonary function improved in female patients only, suggesting that factors other than the EP are involved in the pathogenesis of the respiratory alterations.

Adolescent↗
PubMed1991

Congenital hypothyroidism and pericardial effusion.

A group of infants, affected by congenital hypothyroidism diagnosed through the neonatal screening program, was investigated with echocardiography to detect the presence of pericardial effusion. We studied the relationship between the effusion and the etiology of hypothyroidism, established through thyroid scintiscanning. Our data show a high prevalence of effusion in hypothyroid patients, without other clinical signs of cardiac involvement as well as a relationship between the etiology of hypothyroidism and the presence of effusion. This seems to be much more frequent in those forms which can imply a more severe hormonal defect, particularly during fetal life (agenesis/dyshormonogenesis). Furthermore, the high prevalence of pericardial effusion suggests to start the L-T4 replacement therapy with lower dosages as commonly advised, in order to avoid a cardiac involvement.

Congenital Hypothyroidism↗
PubMed1991

[A rapid response laboratory in a pediatric clinic].

Laboratory studies are an essential aspect in the management of children with grave diseases, helping to plan the therapeutic measures and to identify the disease. The most acute syndromes in pediatric emergency care are: coma, convulsions, dehydration, metabolic disequilibrium, hypovolemic or anaphylactic shock, a grave infection, chemical or drug poisoning. The laboratory tests that should be available within few minutes are blood cell count, blood and gas analysis, sodium, potassium, calcium, glucose measurements. The results of total proteins, serum creatinine and urea measurements, bleeding tests, analysis of blood smear, sedimentation rate, ALT, AST, osmolality, urinary electrolytes, creatinine and cerebrospinal fluid examinations should be available within sixty min. New accurate and rapid techniques and instruments facilitate the diagnostic and therapeutic approach to pediatric emergency.

Child↗
PubMed1991

Hormonal and psychologic assessment in LLA patients after bone marrow transplant.

Four adolescent males were submitted to hormonal and psychological evaluation 3-8 years after bone marrow transplant. All presented testicular failure, two were submitted to orchiectomy. Androgen replacement therapy was begun at 13 yr 7 mo-17 yr. A psychological evaluation has been performed. Orchiectomy and insertion of artificial testicles do not seem to have affected patients' psychological situation. Individual differences have been found due to many causes.

Adolescent↗
PubMed1991

Pediatric emergency laboratory.

The laboratory contribution in the care of a seriously ill child is essential to plan and organize the therapy after the first-step emergency care and to know the aethiology of the illness. The most acute syndromes in pediatric emergency care are: coma, convulsions, dehydration, metabolic disequilibrium, hypovolemic or anaphylactic shock, serious infectious diseases and chemical or drug poisoning. The laboratory tests which have to be available within few minutes are blood cell count, hemogasanalysis, sodium, potassium and calcium, glucose. Total proteins, serum creatinine and urea, bleeding tests, blood smear, sedimentation rate, ALT, AST, osmolality, urinary electrolytes and creatinine and cerebrospinal fluid examination should be available within sixty minutes. New accurate and rapid techniques and instrumentations make easier the diagnostic and therapeutical approach to pediatric emergency.

Child↗
PubMed1990

Growth hormone deficiency in children: role of magnetic resonance imaging in assessing aetiopathogenesis and prognosis in idiopathic hypopituitarism.

To search for the presence of morphostructural abnormalities of the hypothalamus-pituitary region in growth hormone deficient (GHD) children magnetic resonance imaging (MRI) was performed in 30 GHD patients (age 10.09 +/- 3.5 years) and in 15 healthy age-matched controls. MRI demonstrated a significantly small sella and pituitary volume compared to controls and normal literatures values. In 20 patients the structures were extremely small and an abnormal development of the pituitary stalk was observed, and in 18 of these patients the bright spot indicating the neurohypophysis was dislocated to the distal part of the maldeveloped stalk, although these children had a normal fluid balance. From a functional point of view hypothalamus and pituitary defects were equally distributed between the two morphological groups. The patients with multiple endocrine defects had the smallest pituitary volume and abnormal stalk. A possible pathogenetic role of perinatal trauma or dysembryogenic events are discussed. A careful follow up of patients with isolated GHD presenting MRI abnormalities of the pituitary is suggested for the possible evolution in panhypopituitarism.

Adolescent↗
PubMed1990

Long term growth hormone (GH)-releasing hormone and biosynthetic GH therapy in GH-deficient children: comparison of therapeutic effectiveness.

Twenty-five GH-deficient children were treated with GHRH (1-44), once daily sc for 6-24 months. At the 6th month of therapy, 40% of our patients showed a catch-up growth (responders), while the remaining 60% did not (nonresponders). No differences in auxological and biological variables at inclusion were found between the two groups. However, integrated GH secretion elicited by iv GHRH at inclusion was significantly (p less than 0.025) higher in responders than in non responders. During GHRH therapy, no significant increase in IGF 1/SmC was found in both groups. In all patients treatment was discontinued after 6-24 months, when its effect on growth rate failed. After a wash-out period of at least 6 months, patients were submitted to biosynthetic GH therapy. After 6 months of GH treatment a significant catch-up growth was found in both responder and non-responder children. Although the majority of GH-deficient children have hypothalamic rather than pituitary dysfunction, GHRH therapy is found to be less effective than GH treatment. Other methods of GHRH administration are worth investigating.

Adolescent↗
PubMed1990

Bone mass in young patients with type I diabetes.

We measured bone mineral content (BMC) with single photon absorptiometry in two groups of young patients with type I diabetes: the first group (prospective study) consists of 48 patients followed from onset to the third year of diabetes and the second group (cross-sectional study) consists of 66 long-term diabetics. Bone mineral content at onset of disease was lower than normal in only two cases. After 3 years of diabetes no male revealed BMC below the normal range but two females (6.6%) had low BMC values. In our cross-sectional study we found a BMC reduction in 12% of the cases. We did not find a relationship between bone deficit and duration of diabetes, or bone mass values and HbA1.

Adolescent↗
PubMed1990

Evidence of morphological and functional abnormalities in the hypothalamus of growth-hormone-deficient children: a combined magnetic resonance imaging and endocrine study.

Fifty-seven children with growth hormone deficiency and 15 healthy age-matched controls were studied by magnetic resonance imaging (MRI). Of the patients, 36 (63%) had isolated GH deficiency (IGHD) and 21 (37%) multiple pituitary hormone deficiency (MPHD). MRI studies showed a marked reduction in pituitary volume in all patients in comparison with normal controls. Moreover, a striking morphological abnormality with the apparent absence of the pituitary stalk and an ectopic posterior pituitary lobe was detected in 34 of the patients (59%). This pituitary stalk abnormality was detected in 95% of the MPHD patients and in 39% of the IGHD patients. All but one of the patients with a normal pituitary stalk had IGHD. Endocrine evaluation showed no correlation with MRI data: in particular patients with an apparent anatomical interruption of the hypothalamic-pituitary axis showed a variety of patterns of hormonal responses. In conclusion, our study shows a high frequency of hypothalamic-pituitary anomalies in patients with GH deficiency, particularly related with MPHD. However, further studies are needed to improve our understanding of the relationship between MRI and endocrine data.

Adolescent↗