A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency.

Context: The majority of mutations responsible for isolated GH type II deficiency (IGHD II) lead to dominant negative deleteriously increased levels of the GH1 exon 3 skipped transcripts.

Objective: The aim of this study was the characterization of the molecular defect causing a familial case of IGHD II.

Patients: A 2-yr-old child and her mother with severe growth failure at diagnosis (-5.

The impact of national and international guidelines on newborn care in the nurseries of Piedmont and Aosta Valley, Italy.

Background: Care procedures for preventing neonatal diseases are carried out according to nurseries' traditions and may be not consistent with the evidence based medicine issues.

Methods: A multi-centric survey was conducted in 2 Regions located in NW Italy (Piedmont and Aosta Valley) in order to collect information on some healthy newborn care procedures. During 2001, a questionnaire was sent to the chief pediatrician in charge to the all 33 nurseries of the region asking the methods used during 2000 as prevention of ophthalmia neonatorum, early and late hemorrhagic disease of newborn, umbilical cord care and recommendations of vitamin D administration.

Puberty onset in Northern Italy: a random sample of 3597 Italian children.

Entering puberty is one of the most important milestones in life. Studies from around the world have shown that age of pubertal changes onset can vary with race and ethnicity, environmental conditions, geographical location and nutrition. In the last century, the onset of puberty progressively shifted back towards younger ages in several European countries, with a levelling off in the last decades.

Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.

Objective: TSH resistance ranges from overt nonautoimmune hypothyroidism to subclinical hypothyroidism, defined as mild hyperthyrotrophinaemia but a euthyroid state clinically. To date, 23 inactivating mutations of the TSH receptor (TSHR) gene have been proven responsible for the clinical condition, but an absence of mutations in the TSHR gene has been reported for several cases of TSH resistance as well. In this paper, we aimed to investigate the actual role of the TSHR gene in the development of both subclinical and congenital hypothyroidism.

Diagnosis of GH deficiency in the transition period: accuracy of insulin tolerance test and insulin-like growth factor-I measurement.

Objective: A consensus exists that severe growth hormone deficiency (GHD) in adults is defined by a peak GH response to insulin-induced hypoglycemia (insulin tolerance test, ITT) of less than 3 microg/l based on a cohort of subjects with a mean age of 45 years.

Design And Methods: By considering one of the following two criteria for the diagnosis of probable permanent GHD, i.e.

Younger age at diagnosis of type 1 diabetes mellitus in children of immigrated families born in Italy.

The aim of this study was to evaluate the age of immigrants' children at diagnosis of Type 1 diabetes (T1DM) according to their country of birth. Immigration from developing countries to a westernised area causes rapid changes in the environmental conditions, and we investigated whether the location of birth, either inside or outside Italy, is associated with age at diagnosis of diabetes. Out of a prevalent hospital-based cohort of 5718 T1DM children cared for in 2002 in 47 Italian Pediatric Diabetes Units, we recruited 195 children (M: 97) of immigrants from developing countries--119 were born in Italy and 76 outside the European Union.

The risk of diabetes mellitus in children born small for gestational age and treated with recombinant growth hormone.

Children born small for gestational age (SGA) are known to be at risk for both short stature and type 2 diabetes mellitus in later life. To evaluate the influence of recombinant growth hormone (rhGH) therapy on insulin sensitivity, 24 children born SGA were treated with GH at traditional doses, from 0.23 mg/kg/week (group A) to 0.

Ghrelin secretion is inhibited by glucose load and insulin-induced hypoglycaemia but unaffected by glucagon and arginine in humans.

Objective: Circulating ghrelin levels are increased by fasting and decreased by feeding, glucose load, insulin and somatostatin. Whether hyperglycaemia and insulin directly inhibit ghrelin secretion still remains matter of debate. The aim of the present study was therefore to investigate further the regulatory effects of glucose and insulin on ghrelin secretion.

[Urinary tract infections: review of the case records of the 5-year-old population of Novara].

Aim: A feverish high temperature is the symptom that most frequently leads families to take their children to a Pediatric First Aid unit. In the differential diagnosis of the causes of hyperpyrexia the presence of infections of the genito-urinary tract have to be excluded. Infections of the urinary ways are often the cause of high temperatures in infancy, particularly during the 1st year of life; early identification at the moment of examination at the Paediatric First Aid clinic of patients with infections of the urinary ways makes it possible to prevent the onset of renal complications.

Genetic defects in GH synthesis and secretion.

Growth hormone (GH) is a multifunctional hormone produced in the anterior pituitary that promotes postnatal growth of skeletal and soft tissues. GH secretion and release are complex phenomena depending on several intrinsic and extrinsic factors modulating the release of two hypothalamic hormones, GH releasing hormone and somatostatin. Any genetic or acquired disorder that impairs GH secretion or action causes a pathological phenotype characterized by harmonic short stature with isolated GH deficiency (IGHD) or combined pituitary hormone deficiency (CPHD).

Efficient coupling into and out of high-Q resonators.

The temporal-coupled-mode theory is directly applied to the design of devices that feature a resonator with a high quality factor. For the temporal-coupled-mode theory we calculate the decay rate of the resonator to determine the transmission properties of the device. The analysis using the decay rates requires little computational effort, and therefore the optimum device properties can be determined quickly.

Hyperparathyroidism.

Hyperparathyroidism is a disease characterized by hypercalcemia with hypophosphoremia resulting from increased secretion of parathyroid hormone (PTH). The disease may be divided into 3 forms: a) primary, b) secondary, c) tertiary (secondary refractory form). Primary hyperparathyroidism is rare in children; hyperplasia is more frequent during the early years of life (neonates and infants) and is difficult to distinguish from adenoma in children.

Ghrelin gene polymorphisms and ghrelin, insulin, IGF-I, leptin and anthropometric data in children and adolescents.

Background: Previous investigations on the ghrelin gene reported three common polymorphisms (Arg51Gln, Leu72Met, and Gln90Leu), but their role in overweight and obese individuals remains to be clarified.

Objective: To ascertain whether these genetic variants could influence ghrelin secretion and play a part in predisposing to earlier onset of obesity or in modulating the overweight phenotype in childhood.

Design And Methods: Mutational analysis of the entire ghrelin gene and total and acylated plasma determinations were performed in 81 obese or overweight children and adolescents (46 were obese and 35 overweight: Ob/Ow).

The effects of insulin on mesenteric blood flow in anaesthetized pigs.

Infusion of insulin in anaesthetized pigs has been shown to cause an increase in renal blood flow and a decrease in coronary blood flow, which were the net result of a vasoconstriction involving sympathetic alpha-adrenoceptor-mediated mechanisms and of a local vasodilatation involving the endothelial release of nitric oxide. In the present study, the effect of insulin on superior mesenteric blood flow was examined in pentobarbitone-anaesthetized pigs at constant heart rate, aortic blood pressure, left ventricular contractility and blood levels of glucose and potassium. In 10 pigs, infusion of 0.

Circulating ghrelin levels in the newborn are positively associated with gestational age.

Objective: Ghrelin exerts potent GH-releasing activity and stimulates food intake. Circulating ghrelin levels are increased in anorexia and cachexia, reduced in obesity and restored by weight recovery. Newborns are characterized by GH hypersecretion associated with low IGF-I levels reflecting peripheral GH resistance.

Ghrelin secretion in childhood is refractory to the inhibitory effect of feeding.

Ghrelin, a natural GH secretagogue, is predominantly produced by the stomach. Ghrelin has other actions including orexant activity, modulation of energy balance, and modulation of endocrine and nonendocrine functions. Ghrelin secretion is increased by fasting and energy restriction but decreased by food intake, glucose, insulin, and somatostatin.

Standard light breakfast inhibits circulating ghrelin level to the same extent of oral glucose load in humans, despite different impact on glucose and insulin levels.

Ghrelin levels are increased by fasting and energy restriction, decreased by food intake, glucose load and insulin but not by lipids and amino acids. Accordingly, ghrelin levels are elevated in anorexia and cachexia and reduced in obesity. Herein we compared the effects of a standardized light breakfast (SLB) on morning circulating ghrelin levels with those of oral glucose load (OGTT) in normal subjects.

Leptin levels as function of age, gender, auxological and hormonal parameters in 202 healthy neonates at birth and during the first month of life.

Leptin signals to the brain energy stores and balance while integrating neuroendocrine functions. Leptin levels in adults are higher in females than in males, while a gender-related difference in newborns is controversial. To clarify this point, in 202 healthy neonates we measured dynamic changes in leptin levels over the first month of life and looked for correlation between leptin levels and auxological and hormonal parameters.

Effect of different growth hormone dosages on the growth velocity in children born small for gestational age.

To assess whether short-term growth hormone (GH) treatment can improve the linear growth in children who were born small for gestational age (SGA), we started a randomized multicenter trial in 26 age- and sex-matched prepubertal children born SGA. During the 1st year of GH therapy, all children received GH 0.23 mg/kg/week, then during the 2nd year, 13 children received the same dose (group A), and in the other 13 children, the dose of GH was doubled, i.

Central and peripheral activities of ghrelin, a ligand of the growth hormone secretagogue receptor.

Ghrelin, a 28 amino-acid acylated peptide predominantly produced by the stomach, displays strong GH-releasing activity mediated by the hypothalamus-pituitary GH secretagogues (GHS) receptors which had been shown specific for a family of synthetic, orally active GHS. GHS also act on central and peripheral receptors and show other actions including an orexigenic effect, influence on gastro-entero-pancreatic functions, cardiovascular and anti-proliferative effects. Ghrelin manages the neuroendocrine and metabolic response to starvation.

Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases.

Triggering of the Fas receptor induces T cell apoptosis and is involved in shutting-off the immune response. Inherited defects impairing Fas function cause the autoimmune lymphoproliferative syndrome, and may play a role in other autoimmune diseases. The aim of this work was to analyse the Fas function in paediatric patients with thyroid autoimmunities.

Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.

Mutations in the Prophet of Pit-1 (Prop-1), a paired-like homeodomain transcription factor involved in the early embryonic pituitary development, have been reported as a cause of combined hormone deficiency (CPHD) involving growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH), gonadotrophins and in some cases adrenocorticotrophic hormone (ACTH). We report two pre-pubertal siblings with short stature and deficiency of GH and TSH at presentation. Molecular analysis of the PROP1 gene revealed compound heterozygotes for two novel missense mutations of the PROP1 gene affecting the same amino acid (Arg71Cys and Arg71His) in the first alpha helix of the Prop-1 homeodomain.