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Biomedical subjects

G Radetti

Publications and source records attributed to G Radetti.

14 recordsLinked to original sources

Adipsic hypernatremia in two sisters.

We describe two sisters with chronic hypernatremia, lack of thirst, and inappropriate osmoregulated vasopressin secretion. Only one sister, who presented with microcephaly and developmental delay, showed signs of dysplasia of the midline structures (ie, septum pellucidum and corpus callosum) and a large intracranial cyst. Neither sister showed any signs of thirst, even when osmolality exceeded 337 mmol/kg. In both patients, the vasopressin secretion did not respond to either osmotic or nonosmotic stimuli or was suppressed by a water load. Plasma osmolality values returned to normal after treatment with forced hydration and a vasopressin analogue, desamino-D-arginine vasopressin. These findings indicate a severe defect in the hypothalamic osmoreceptors that control thirst and vasopressin secretion. To our knowledge, this is the first report of such a disorder in two sisters.

Aldosterone

Isolated dehydroepiandrosterone sulphate hypersecretion: a case report.

The case of a 17-year-old male with isolated hypersecretion of dehydroepiandrosterone sulphate (DHEAS) is described. Cushing syndrome, congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, an androgen producing adrenal tumour, and elevated plasma DHEAS due to an increased renal threshold were excluded. Selective renal vein catheterization confirmed bilateral, isolated adrenal DHEAS hypersecretion. The dexamethasone suppression suggests a functional nature of this alteration. This condition has to be considered in the differential diagnosis of excessive adrenal androgen production in males, or of hirsutism in females.

Adolescent

[Chronic diarrhea as the main symptom of histiocytosis X].

A chronic diarrhea accompanied by vomiting and weight loss was the major symptom in a one-year-old infant during a fulminant course of histiocytosis X. The diagnosis was suggested by the radiologic evidence of alternating dilated and stenotic segments in the small and large bowel as well by a massive intestinal protein loss and the presence of histiocytes in the mucosa and submucosa of the rectum. The histological picture of enlarged mesenteric lymph nodes, obtained during a diagnostic laparotomy, confirmed the diagnosis.

Biopsy

Thyrotropin (TSH) secretion in L-thyroxine treated children: assessment by a ultrasensitive TSH immunoradiometric assay.

The clinical usefulness of the measurement of basal TSH by an ultrasensitive assay (IRMA) versus the TRH test has been challenged in 49 children treated with L-thyroxine. They were given suppressive or replacement therapy depending on the underlying disease. An absent response of TSH to TRH could be predicted from a basal TSH value less than 0.1 mU/l in 88.8% of the cases, while only in 77.7% from a basal TSH value = 0.1 mU/l. A basal TSH value found in the range of the normal children always predicted a normal TRH test. We conclude that a sensitive TSH assay has some clinical application in monitoring L-thyroxine therapy, but can not absolutely replace the TRH test.

Adolescent

Down's syndrome, hypothyroidism and insulin-dependent diabetes mellitus.

We describe a child with Down's syndrome who developed an insulin-dependent diabetes mellitus at the age of 8 years and hypothyroidism at the age of 17 years. Because of the well known tendency to autoimmune diseases of patients with Down's syndrome, an autoantibody screening was undertaken. Only a low titre for gastric parietal cell antibodies was repeatedly found, but a gastric biopsy did not reveal chronic atrophic gastritis. Thyroid function should be checked periodically in patients with Down's syndrome since they might suffer from hypothyroidism which may not be recognized for a long time because of its latent onset.

Child

Thyroid function in type 1 juvenile diabetes mellitus: tendency to the low T3 syndrome.

We have evaluated the thyroid function in 30 children and adolescents (average age 13 2/12 +/- 3 10/12 years) suffering from type 1 insulin-dependent diabetes (average duration of illness 5 +/- 3 3/12 years). We divided them into group A (good control) and group B (poor control), according to whether they had presented an HbA1C value lower or higher than 10%. The results obtained have been compared with a group of 30 normal patients of the same age. Both groups of diabetics presented T4 values which were notably lower than the control group (P less than 0.05). T3 was appreciably diminished both in group A (P less than 0.05) and in group B (P less than 0.01) and presented a negative correlation with HbA1C, only in group A however. The rT3/T3 ratio, on the other hand, was significantly increased in group B with respect to the controls. No significant differences were found with regard to FT3 and FT4, nor any correlations among thyroid hormones, C peptide, duration of illness, and daily insulin requirement. Our results indicated that the tendency to the low T3 syndrome, already described in adult diabetics, is also identifiable in young diabetics, particularly if poorly controlled.

Adolescent

[Neonatal spasms caused by cerebral hemorrhage in alpha 1-anti-trypsin deficiency].

This paper describes a case of late neonatal convulsions due to intracranial haemorrhage in a newborn with cholestatic hepatopathy due to PiZZ homozygote alpha-1-antitrypsin deficiency. The deficiency of vitamin K dependent clotting factors, responsible for the haemorrhage, seems to be due to the cholestasis and might have been aggravated by the non-administration of vitamin K at birth and by breast feeding. The response to vitamin K therapy was good.

Cerebral Hemorrhage

Hypophyso-gonadal function in the diabetic child.

14 diabetic boys (five with a family history of diabetes and nine without) and 29 "short normal" boys were studied. A gonadal function test (2.000 IU of hCG i.m. for 3 days and plasma testosterone assay before and after the hCG administration) as well as an LH-RH test (50 microgram i.v.) were carried out. While basal testosterone level turned out to be similar in the two groups of children, it was significantly lower (p less than 0.01) after hCG than the mean value of the control group. This difference was mainly observed in those patients with a family history of diabetes. In the diabetic children, basal LH level was normal and the pituitary LH reserve was lower than in the control group. Both basal FSH level and FSH pituitary reserve were lower than in normal children. These data show that an alteration in the hypothalamus-pituitary-gonadal function is already evident in the diabetic child.

Adolescent

[Bone density in swimmers].

Bone mineral density of the non-dominant forearm was measured by single-photon absorptiometry at a proximal site (PBMD) and at a more distal site (DBMC) in 9 competitive male swimmers, aged 18 to 23 years, who had been training for 12 +/- 2 years, 10.3 +/- 5.6 hours a week. The results were compared with 25 age-matched controls. PBMD was m +/- SD 0.57 +/- 0.02 g/cm2 in the swimmers and 0.57 +/- 0.05 g/cm2 in the controls. DBMD was 0.45 +/- 0.02 g/cm2 in the swimmers and 0.45 +/- 0.03 g/cm2 in the controls. No difference was found between the two groups. We can therefore conclude that swimming, in absence of gravity, didn't provide our athletes with an effective mechanical load capable to increase bone density of the forearm.

Absorptiometry, Photon

[Monitoring the treatment of precocious puberty with a GnRH-analog (buserelin): comparison of the GnRH-test with nocturnal pulsatility of LH, testosterone and 17-beta-estradiol].

We studied in 10 children (3 boys and 7 girls), affected by precocious puberty and treated for a period of more than 6 months with the GnRH-analog Buserelin, the efficacy of the GnRH test versus the study of spontaneous nocturnal secretion of LH, testosterone and 17 beta-estradiol as a means of testing the gonadotropin suppression. All the subjects have shown a total suppression of LH during the GnRH test as well as a nocturnal profile of LH, testosterone and 17 beta-estradiol of a prepubertal pattern. Clinically all the patients were treated successfully. Considering the effectiveness of both investigations, we conclude that the GnRH test combined with clinical observation is a single and valid means of testing the pharmacological treatment for precocious puberty.

Buserelin

[Tendency to low T3 syndrome in type 1 juvenile diabetes. Comparison of treatment with human and porcine insulin].

We investigated the serum thyroid hormones an the degree of diabetic control in 30 children and adolescents suffering from type 1 insulin-dependent diabetes, first while they were being treated with porcine insulin (group A) and then while 23 of them, random selected, were being treated with human insulin (group C). The purpose of our study was to evaluate if the change to human insulin would result in better metabolic control and disappearance of the tendency to the low T3 syndrome that was evidenced in group A. If we compare group A with group C, it can be seen that the degree of diabetic control is higher in group C (decrease in HbA1C), but that the tendency to the low T3 syndrome has not disappeared. Then we selected inside the groups A and C the patients in good metabolic control, and called them respectively group B and group D. If we compare group B with group D it can be seen that there is not any significant difference at all between them and that both groups show a tendency to the low T3 syndrome if compared with the control group (group K). In conclusion, we may state that substituting porcine with human insulin has not brought about any significant metabolic improvement in our patients, as can be seen from the persistent tendency to the low T3 syndrome.

Adolescent

[Leri-Weill syndrome (dyschondrosteosis). Description of 2 clinical cases].

We describe two children with Leri-Weill syndrome (Dyschondrosteosis), one of which showed the clinical features at very early age. Stature was moderately reduced in both, due to shortening of the bones of the legs. Furthermore were evident in them the clinical and radiological features of the propositus and of their affected parents are described. The problems concerning the early recognizing of the disease and the genetic inheritance are discussed.

Anthropometry