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Biomedical subjects

S Bernasconi

Publications and source records attributed to S Bernasconi.

At least 217 records · Page 12Linked to original sources

Endogenous opioid inhibitory tone on LH secretion in normal puberty and in several pubertal disturbances.

To further evaluate the role exerted by endogenous opioids on LH secretion a naloxone challenge (0.08 mg/Kg b.w. i.v.) was performed in 23 healthy children at different stages of puberty, in 5 adolescents in different period of menstrual cycle, in 3 case of idiopathic precocious puberty (PP), in 7 cases of delayed puberty (DP), in 4 females affected by hypogonadotropic hypogonadism (HH) and in 6 patients affected by polycystic ovary disease (PCOD). Naloxone does not induce any significant change on LH plasma levels in prepubertal healthy children and in all the cases of PP and DP. Similarly there was no LH response in healthy adolescents neither in HH nor in PCOD, the response to naloxone appears only in preovulatory and luteal phases. These data indicate that the central opioid system regulating LH secretion in humans is active only at more advanced stages of puberty and it does not seem to play a role in the beginning of sexual maturation. Moreover gonadal steroids seem to play a fundamental modulatory role on opioid-controlled LH secretion.

Adolescent↗

Blood pressure behaviour and control in Turner syndrome.

UNLABELLED: Adult Turner syndrome (TS) patients frequently present hypertension. To clarify the pathogenesis of this hypertension we examined the blood pressure (BP) behaviour and the renin-angiotensin-aldosterone system in 31 TS patients (2-22 years of age). BP levels were occasionally elevated in 47% of the subjects and constantly elevated in 23%. Most of the patients were on estrogen replacement therapy, but 26% of them presented with elevated levels since childhood. Supine and upright plasma renin activity (PRA) values were higher in TS compared to controls and more elevated in hypertensive TS than in the normotensive ones. At Captopril challenge TS showed different PRA responses regardless of the karyotype and clinical features. Patients on estrogen therapy, however, exhibited higher increments of PRA after Captopril. CONCLUSIONS: TS patients show high frequency of hypertension in pediatric age. Estrogen therapy is an outbreaking and worsening factor. An estrogen independent role of the renin-angiotensin-aldosterone system in the pathogenesis of TS hypertension is still uncertain.

Adolescent↗

Pattern of human blood spermidine and spermine in prematurity.

Blood polyamines have been determined in preterm newborns (24-37 gestation weeks) during the first hours of life and until 20 days after birth. The most elevated polyamine concentrations were found in preterm newborns from the 24th-33rd gestational week. In all preterms, however, polyamine concentrations are higher than in full term newborns. In preterm infants two different patterns of blood polyamines appear in relation to the gestational age: in infants born at 24-34 wk, spermidine reaches the peak at 12 h and spermine shows high concentrations between 12 and 48 h. In infants born at 35-37 wk maximal concentrations of polyamines were reached at 12 h. Successively, in both groups the polyamines progressively decrease up to the 20th day, with some individual variations. Our results may provide a further support to the suggestion of a fetal genesis of polyamines and their involvement in fetal growth.

Female↗

Circulating thyroid antibodies and thyroid function studies in children and adolescents with insulin-dependent diabetes mellitus.

Significant high titres (1:400-1:25,600) of circulating thyroid microsomal antibodies (MCHA) were found in the sera of 5 out of 59 non-ketoacidotic, insulin-dependent diabetic (IDDM) patients (mean age 14.5 years). Among these five patients (four females, one male), all of whom were over 11 years, two also had thyroglobulin antibodies. Increased thyrotropin (TSH) response to TRH was found in 3/5 MCHA positive patients and in 3/54 without circulating MCHA. Serum thyroxine (T4) and free T4 (FT4) average values were significantly lower (P less than 0.01 and P less than 0.001) in diabetics (7.1 +/- 1.8 micrograms/dl and 10.2 +/- 3.1 pg/ml, means +/- SD) as compared to normal sex and age matched controls (8.9 +/- 1.9 micrograms/dl and 12.2 +/- 2.2 pg/ml, respectively). T4 and FT4 values were inversely related to the duration of the disease. Subnormal T4 values were found in six (five females and one male) patients, four of whom had subnormal FT4 values. No patient had low triiodothyronine (T3) and high reverse T3 (rT3) values, i.e. none displayed the biochemical pattern of the 'low T3 syndrome' described with ketoacidotic status. This indicates also a satisfactory compensation of IDDM in all the patients. At the time of study no patient (including also those with circulating MCHA and TGHA and with TSH hyper-response to TRH) showed either thyroid size enlargement or clinical features of thyroid dysfunction including impaired growth and bone age retardation.

Adolescent↗

Activity of desipramine, fluoxetine and nomifensine on spontaneous and p-CPA-induced muricidal aggression.

Antidepressant drugs reportedly counteract mouse-killing activity by rats. There is evidence that antidepressant derivatives exert their anti-muricidal activity through both noradrenergic and serotonergic neurons. The experiments were performed in two types of muricidal aggression with three antidepressants characterized by different neurochemical activity. No major differences in the antimuricidal efficacy of the drug-employed were found, even though spontaneous muricidal animals resulted on the whole less sensitive to antidepressants than p-CPA-induced muricidal rats. In these last animals nomifensine proved to be more potent than desipramine and fluoxetine.

Aggression↗

Serum TSH, T4, T3, FT4, FT3, rT3, and TBG in youngsters with non-ketotic insulin-dependent diabetes mellitus.

Several parameters of thyroid function were studied in 112 non-ketoacidotic youngsters with insulin-dependent diabetes mellitus (IDDM). Levels of thyroxine (T4), reverse triiodothyronine (rT3), thyroxine-binding globulin (TBG) and T3 were lower than in controls, whereas FT4, and FT3 were normal. T4 levels in IDDM patients were positively related to T3, rT3 and TBG, and inversely related to haemoglobin A1 (HbA1). However, only 4 patients showed biochemical hypothyroidism (T4 less than 5 micrograms/100 ml), whereas their FT4, FT3 and thyroid-stimulating hormone (TSH) levels were normal. Concurrent variations of T3 and rT3 levels were found in IDDM patients; thus, their T3/rT3 ratios were stable or higher than in controls, indicating that peripheral deiodination of T4 is preferentially oriented to production of rT3 only during ketoacidosis. Although changes in thyroid function may reflect the degree of metabolic control of diabetes in a large population, the clinical usefulness of serum thyroid hormone measurements in an individual case still appears to be limited.

Adolescent↗

Precocious puberty in a male with Prader-Labhart-Willi syndrome.

True precocious puberty is reported in a male child with Prader-Labhart-Willi syndrome. The diagnosis of precocious puberty was made at 8 6/12 years of age when a spontaneous migration of previously unpalpable testes (mean volume = 5 ml), an increase in penis length (from 2 to 6 cm) and a growth spurt (8.4 cm/year) occurred. The follow-up until 13 years of age (bone age 15 years) showed a progressive pubertal development, facial acne (10 years), frequent spontaneous erections and ejaculations (11 years). Repeated endocrine and neuroradiological investigations were consistent with an idiopathic form of precocious puberty.

Adolescent↗

"De Novo" trisomy 20p with macroorchidism in a prepuberal boy.

A 9-year-old prepuberal boy with trisomy 20p syndrome and previously undescribed macroorchidism is presented. This is the second report of trisomy 20p originated "de novo" supporting a frequency rate of about the 10% for this etiological mechanism. Reviewing the most common clinical findings of all 19 previous patients, a typical phenotype with a recognizable face can be carried out in several cases. If prepuberal macroorchidism is confirmed in further patients, trisomy 20p could be taken into account in the differential diagnosis with the sex-linked syndromes with mental retardation and abnormal testicular increase.

Abnormalities, Multiple↗

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.

Clinical, radiological and biochemical findings of two new cases of Sanfilippo disease, type D are reported. A high percentage of heparan sulfate was found in the urinary glycosaminoglycan pattern and a severe deficiency of N-acetylglucosamine-6-sulfate sulfatase was demonstrated in skin cultured fibroblasts from the patients. One of the patients presented mild intellectual impairment which differentiates him from the other cases described to date.

Child↗

Time-courses of p-CPA-induced depletion of brain serotonin and muricidal aggression in the rat.

p-Chlorophenylalanine is known to selectively decrease brain serotonin and to induce muricidal aggression in previously docile rats. With regard to the substance's relatively time-limited effect on brain serotonergic system, the neurochemical activity of p-CPA on tryptophan, serotonin and 5-hydroxyindoleacetic acid on seven discrete areas of the rat brain is studied in parallel to the time-course of muricidal aggression induced by the drug. Evidence indicates that, following the disruption of brain serotonergic inhibitory control, muricidal aggression becomes a stable behavior, probably on account of its self-reinforcing property.

Aggression↗

[Unilateral monorchidism and cryptorchism. Clinical and biological findings useful in the differential diagnosis].

Eighteen prepuberal children with only one testis palpable in the scrotum were studied in order to review the clinical and endocrinological data useful for differentiating monorchidism from unilateral cryptorchidism. Compensatory testicular hypertrophy, high LH and FSH response to LH-RH (100 micrograms/1.73 m2) and well preserved Leydig cell function after HCG (5,000 IU/m2) should lead to the diagnosis of monorchidism, either both congenital or secondary to severe atrophy of the unpalpable testis. When these findings are lacking the diagnosis of unilateral cryptorchidism should be considered.

Child↗

[Total IgE synthesis in diabetic children].

Antibodies (ICA and other organ-specific and non-organ-specific antibodies), HLA histocompatibility antigens and serum IgE levels were analysed in 27 diabetic children aged 2 to 14 years. The results obtained are as follows : 59% of examined subjects had ICA; the HLA-B8 incidence in our diabetic patients was significantly higher (p less than 0.0005) than in normal population; serum IgE levels were higher than +1 SD in 67% of patients; this percentage reaches 76% in diabetics with ICA and 86% in diabetics with ICA and HLA-B8. Enhancement of IgE production could be the consequence of a reduction in the number and/or function of suppressor T lymphocytes.

Adolescent↗