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Biomedical subjects

G Mengarda

Publications and source records attributed to G Mengarda.

15 recordsLinked to original sources
PubMed1991

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↗
PubMed1989

[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↗
PubMed1987

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↗
PubMed1986

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↗
PubMed1979

Partial trisomy 9 : clinical and cytogenetic correlations.

A study of three new cases with different trisomies involving chromosome 9 and a review of about 100 cases of partial trisomy 9 reported in the literature, suggested some cytogenetical and clinical correlations and lead us to propose the nomenclature of Rethore's syndrome type 1 and type 2.

Adult↗
PubMedDate not supplied

Celiac disease in two different population groups of South Tirol.

The expression of celiac disease is assumed to be influenced by both genetic and environmental factors. Our study investigated the prevalence and HLA type in two different ethnic groups: a German group and an Italian group living in South Tirol. Intermarriages are rare between these population groups. The live birth rate during 1973-1982 (10 years) was 42,739 for the German group and 14,874 for the Italian group. Fifty people with celiac disease, born during this period, were diagnosed according to the ESPGAN criteria: 45 were German and five were Italian. The incidence in the German group was 105 per 100,000, and 33 per 100,000 in the Italian group. HLA typing was performed in 40 patients, and in 50 German and 50 Italian controls. Of the patients with celiac disease, 43% were positive for HLA B8, 85% for DR3, and 66% for DR7. Although lower, no difference was found in the expression of HLA B8, DR3, and DR7 in the Italian and German controls. The data presented here strongly suggest that there is little association between the incidence of the disease and HLA type in the two ethnic populations. However, from preliminary data, it is postulated that the age of the infant when gluten is added to its diet will affect the incidence of celiac disease.

Celiac Disease↗
PubMedDate not supplied

[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↗
PubMedDate not supplied

[Prostacyclin in the treatment of persistent fetal circulation syndrome].

Persistent pulmonary hypertension of the neonate (PPHN), described initially by Gersony in 1969 as persistent foetal circulation (PFC syndrome), results from a flawed transition from foetal to extrauterine pulmonary circulation. It is primarily characterised by persistence of, or return to, the suprasystemic pulmonary vascular resistance and pressure normally found in the foetus. The increased pulmonary pressure causes right to left shunting through the ductus arteriosus or the foramen ovale, or both. The resulting hypoxaemia and acidosis may produce further pulmonary vasoconstriction and lead to a vicious cycle of shunting, hypoxia and acidosis. Infants with a wide variety of underlying clinical conditions develop PPHN. This condition is reversible, but can cause very severe and unrelenting respiratory failure and ultimate death when uncontrolled. Although vasodilating agents, such as tolazoline, have been used with variable success in the treatment of PPHN, a generally acceptable therapy is still lacking. We report here the use of prostacyclin (epoprostenol, PGI2) in two infants with severe and refractory hypoxaemia secondary to pulmonary vasoconstriction.

Epoprostenol↗
PubMedDate not supplied

[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↗
PubMedDate not supplied

[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↗