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Growth hormone (GH) has been recently approved by the Italian Health Authorities for use in transition patients with childhood onset-growth hormone deficiency (CO-GHD). GH in addition to promote linear growth influences several key metabolic processes. In particular, in the transition period, from late adolescent to early adulthood, GH plays an important role in the achievement of a complete somatic development including body composition, muscle mass maturation, full skeletal mineralization and reproductive maturation, as well as in the prevention of metabolic and cardiovascular risk. Therefore, GH replacement should be restarted if a GH stimulation test at the re-evaluation fulfills established criteria. Endocrinologists experienced in the care of GHD adolescent patients held a workshop in Rome, Italy in July 2012 to review in detail the literature data and compare experiences of five Italian endocrinological centers on the negative consequences of interrupting GH treatment and the positive effects of continued GH replacement on intermediary metabolism, heart, muscle, pubertal development, and bone. The aim of the meeting was to delineate the state of the art on GH therapy in transition age and provide suggestions to pediatric and adult endocrinologists for a smooth transition care.

"In Italy, the nationwide newborn screening programme for congenital hypothyroidism (CH) represents an integrated approach to the disease including screening tests, diagnosis, treatment, follow up and nation-wide surveillance of the disease. The latter is performed by the Italian National Registry of Infants with Congenital Hypothyroidism (INRICH). The INRICH is a population-based Registry, this implies that results obtained in the analyses conducted on the data collected in the INRICH are highly representative, can be easily used to improve the health of CH children, and provide information critical to understanding the etiology of the disease. Over the years, the INRICH has contributed: i) to improve procedures for diagnosis, treatment and follow-up of affected babies, by identifying critical points in screening program procedures; ii) to estimate the incidence of CH and the prevalence of the different forms of the disease (thyroid dysgenesis, normally located and shaped thyroid) in our country; iii) to provide a unique opportunity for research into this condition given the large amount and the high quality of information collected in this registry."

We report final height data of patients with Turner's syndrome collected by the Italian Study Group for Turner's Syndrome. One hundred and thirty-five patients reached their final height during GH therapy with different therapeutic regimens (dose and combination). They were divided into 3 groups: group A, 74 patients with high doses of GH (1 IU/kg/week) for at least 2 yr; group A1, GH alone and estrogen therapy added not before 14 yr of chronological age (47 patients, of whom 30 were treated for >4 yr and 10 for >6 yr); group A2, GH plus ethinyl estradiol (17 patients) or GH plus oxandrolone (10 patients); group B, 51 patients with low doses of GH (0.5 IU/kg-week) and high doses of GH for less than 2 yr; and group C, 10 patients with high doses of GH with spontaneous menarche. In contrast to the patients of groups B and C, the patients of group A showed a significantly higher final height (mean, 147.5+/-6.5 cm) than their projected height (mean, 142.9+/-6.4 cm). They showed also a significantly higher final height compared to the subjects of groups B (mean, 145.6+/-5.7 cm) and C (mean, 143.0+/-5.3). Among the patients of group A, the best results were obtained in the patients of group A1 treated with GH alone at high doses and for a longer period (4 yr, 149.3+/-6.4 cm; 6 yr, 153.8+/-4.0 cm). Karyotype, GH secretion, and birth weight did not influence the efficacy of GH therapy. A low target height and a high prevalence of a spontaneous ovarian activity or menarche may negatively influence the effect of GH therapy. Estrogens did not improve final height when added to GH therapy. The use of small doses of oxandrolone was not effective in our experience. GH therapy provides a satisfactory auxological result, especially with high doses of GH alone, given for a long period of time. Optimization of the treatment would seem to require the identification of the ideal age for starting therapy, and this is only possible with a specially designed multicenter study.

Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in 12 patients. Among 10 European familial male-limited precocious puberty (FMPP) patients who had a LH receptor gene mutation, none had the Asp578Gly mutation, which is responsible for the vast majority of cases in the U.S. The restricted number of activating mutations of the LH receptor observed in this and other studies of FMPP strongly suggests that an activating phenotype is associated with very specific sites in the receptor protein. Clinical follow-up of the 5 patients who did not have LH receptor mutations shows that such cases most likely do not have true FMPP. LH receptor mutation analysis provides a sensitive tool for distinguishing true FMPP from other causes of early-onset LH-independent puberty in males.

This article provides current guidelines on the treatment and prevention of childhood obesity. Since factors involved in obesity change with age, the therapeutic approach in pre-school children will be different from pupils and adolescents. The treatment will also be modulated on the basis of weight excess, weight gain velocity and complications. The main goal of the treatment should be to encourage the child and his family to have healthy lifestyle. Families who are not ready for change might benefit from counselling to improve motivation before starting treatment. A detailed alimentary and behavioural history is the start point of the treatment. The strategy of the intervention is to induce changes at three levels: 1) attitudes of parents; 2) physical activity; 3) energy intake. The treatment of the adolescents should take into account the pubertal changes and the psychological aspects of this peculiar period of life. Obesity is a chronic disease and its treatment needs long-life follow-up. The long-term results of the obesity treatment are often disappointing and we have to consider consistent prevention programs for better results.

The available information regarding the possible relevance of viruses in the pathogenesis of insulin-dependent diabetes is reviewed. Experimental studies in animals, clinical cases, histopathologic findings as well as epidemiologic and family studies provide circumstantial evidence that at least some cases of the disease are triggered by infection. Moreover, since it is widely accepted that autoimmunity plays a key role in diabetogenesis, the possible relationship between viruses and the induction of autoimmune responses to pancreatic islets is discussed. In view of recent developments in our comprehension of several chronic "idiopathic" diseases, the role of persistent viral infections and virus-induced immunopathology deserve further consideration in the etiology and pathogenesis of diabetes.

Real-time neural spike detection is an important step in understanding neurological activities and developing brain-silicon interfaces. Recent approaches exploit minimally invasive sensing techniques based on implanted complementary metal-oxide semiconductors (CMOS) multi transistors arrays (MTAs) that limit the damage of the neural tissue and provide high spatial resolution. Unfortunately, MTAs result in low signal-to-noise ratios due to the weak capacitive coupling between the nearby neurons and the sensor and the high noise power coming from the analog front-end. In this paper we investigate the performance achievable by using spike detection algorithms for MTAs, based on some variants of the smoothed non-linear energy operator (SNEO). We show that detection performance benefits from the correlation of the signals detected by the MTA pixels, but degrades when a high firing rate of neurons occurs. We present and compare different approaches and noise estimation techniques for the SNEO, aimed at increasing the detection accuracy at low SNR and making it less dependent on neurons firing rates. The algorithms are tested by using synthetic neural signals obtained with a modified version of NEUROCUBE generator. The proposed approaches outperform the SNEO, showing a more than 20% increase on averaged sensitivity at 0 dB and reduced dependence on the neuronal firing rate.

This work presents a comparison between different neural spike algorithms to find the optimum for in vivo implanted EOSFET (electrolyte&ndash, oxide-semiconductor field effect transistor) sensors. EOSFET arrays are planar sensors capable of sensing the electrical activity of nearby neuron populations in both in vitro cultures and in vivo experiments. They are characterized by a high cell-like resolution and low invasiveness compared to probes with passive electrodes, but exhibit a higher noise power that requires ad hoc spike detection algorithms to detect relevant biological activity. Algorithms for implanted devices require good detection accuracy performance and low power consumption due to the limited power budget of implanted devices. A figure of merit (FoM) based on accuracy and resource consumption is presented and used to compare different algorithms present in the literature, such as the smoothed nonlinear energy operator and correlation-based algorithms. A multi transistor array (MTA) sensor of 7 honeycomb pixels of a 30 &mu, m2 area is simulated, generating a signal with Neurocube. This signal is then used to validate the algorithms&rsquo, performances. The results allow us to numerically determine which is the most efficient algorithm in the case of power constraint in implantable devices and to characterize its performance in terms of accuracy and resource usage.

Approximate multipliers are used in error-tolerant applications, sacrificing the accuracy of results to minimize power or delay. In this paper we investigate approximate multipliers using static segmentation. In these circuits a set of m contiguous bits (a segment of m bits) is extracted from each of the two n-bits operand, the two segments are in input to a small mx m internal multiplier whose output is suitably shifted to obtain the result. We investigate both signed and unsigned multipliers, and for the latter we propose a new segmentation approach. We also present simple and effective correction techniques that can significantly reduce the approximation error with reduced hardware costs. We perform a detailed comparison with previously proposed approximate multipliers, considering a hardware implementation in 28 nm technology. The comparison shows that static segmented multipliers with the proposed correction technique have the desirable characteristic of being on (or close to) the Pareto-optimal frontier for both power vs normalized mean error distance and power vs mean relative error distance trade-off plots. These multipliers, therefore, are promising candidates for applications where their error performance is acceptable. This is confirmed by the results obtained for image processing and image classification applications.

Vitamin D plays a pivotal role in the regulation of calcium-phosphorus metabolism, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur. Besides its historical skeletal functions, in the last years it has been demonstrated that vitamin D directly or indirectly regulates up to 1250 genes, playing so-called extraskeletal actions. Indeed, recent data suggest a possible role of vitamin D in the pathogenesis of several pathological conditions, including infectious, allergic and autoimmune diseases. Thus, vitamin D deficiency may affect not only musculoskeletal health but also a potentially wide range of acute and chronic conditions. At present, the prevalence of vitamin D deficiency is high in Italian children and adolescents, and national recommendations on vitamin D supplementation during pediatric age are lacking. An expert panel of the Italian Society of Preventive and Social Pediatrics reviewed available literature focusing on randomized controlled trials of vitamin D supplementation to provide a practical approach to vitamin D supplementation for infants, children and adolescents.