326 research outputs found

    Postnatal onset of severe growth retardation after in utero exposure to carbamazepine and phenobarbital: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>Anticonvulsant drugs taken by pregnant women to prevent seizures are among the most common causes of potential harm to the fetus. While the immediate harmful effects manifesting as congenital abnormalities are well known, the long-term effects on growth of children exposed <it>in utero</it> to antiepileptic drugs are still uncertain.</p> <p>Case presentation</p> <p>A 7-year-old boy presented to our clinic with severe short stature. His height was 110.4 cm (−2.4 standard deviation score), with a target height of 177 cm (+0.35 standard deviation score). Height corrected for target height was −2.75 standard deviation score. He presented with mild dysmorphic facial features, hypospadias and postnatal onset of severe growth retardation. Biochemical and endocrine tests were in the normal range. The child was exposed <it>in utero</it> to both carbamazepine and phenobarbital.</p> <p>Conclusion</p> <p>This case report shows for the first time that prenatal exposure to antiepileptic drugs may induce postnatal onset of severe growth retardation, suggesting the need for growth and endocrine monitoring of offspring exposed <it>in utero</it> to anticonvulsant drugs.</p

    Effects of basic traditional Chinese diet on body mass index, lean body mass, and eating and hunger behaviours in overweight or obese individuals

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    Abstract Objective To compare the effects of a basic traditional Chinese diet with a Western standard diet on body mass index (BMI), lean body mass (LBD), and eating and hunger behaviours. Methods A sample of 284 patients were randomized into 2 groups: group A (n = 142) followed a basic traditional Chinese diet (BCTD) and group B (n = 142) followed a Western standard diet (WSD). Both diets were set at approximately 1200 calories. The patients enrolled were compared before treatment and 6 weeks after treatment, and then follow-ups were made at 1 year and 5 years. Results In the BCTD group, BMI decreased by 0.46 kg/m2 and LBM by 0.25 kg, versus respectively 0.28 kg/m2 and 0.41 kg in the WSD group. Findings of eating self-assessment, hunger measurement and psychophysical indices of health were also in favour of the BCTD. Conclusion Outcomes show that the BCTD has a better effect on BMI and LBM, as well as over the medium/long term, and provides stronger psychophysical support to obese patients

    It's not always varicocele: A strange case of Zinner syndrome

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    A 42-year-old man presented with a huge varicocele. The patient was completely asymptomatic and he did not complain of dysuria, perineal discomfort, or ejaculatory pain. During the visit, the mass mimicked a varicocele and during the Valsalva maneuver a reflux was documented by colour Doppler ultrasound and an abdominal ultrasound revealed an agenesis of the right kidney and a 4.5-cm diameter intra-prostatic cyst. An abdominal and pelvis magnetic resonance imaging was then performed, which confirmed the right renal agenesis, with an epididymal enlargement in the body and tail. This is a unique case of Zinner syndrome in which the patient presented with a paratesticular mass mimicking a varicocele. \ua9 2015 Canadian Urological Association

    Epigenetic Changes Predisposing to Type 2 Diabetes in Intrauterine Growth Retardation

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    Epidemiologic studies have demonstrated an association between intrauterine growth retardation and a greater risk of chronic disease, including coronary heart disease, hypertension, stroke, and type 2 diabetes in adulthood. An adverse intrauterine environment may affect both growth and development of the organism, permanently programming endocrine and metabolic functions. One of the mechanisms of programming is the epigenetic modification of gene promoters involved in the control of key metabolic pathways. The aim of this review is to provide an overview of the experimental evidence showing the effects of early exposure to suboptimal environment on epigenome. The knowledge of the epigenetic markers of programming may allow the identification of susceptible individuals and the design of targeted prevention strategies

    Swimming at the time of covid-19. A cross-sectional study among young italian competitive athletes

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    During the coronavirus disease 2019 (COVID-19) pandemic, several restriction measures were imposed to control the virus transmission, with important repercussions on different sectors, including sport. This study aimed to explore the effects of the COVID-19 pandemic on Italian competitive swimmers by analyzing how the disease and the restriction measures affected their training. In total, 396 competitive swimmers (mean age 16.0 ± 3.2 years) participated. A questionnaire was used to collect their general information, to assess whether they had had COVID-19 and the number of training days lost due to the disease or to the closure of swimming facilities, and the possible alternative training adopted. Twenty-four (6.1%) participants had had COVID-19 and lost, on average, 32 training days. The closure of facilities caused an interruption in swimming training for about 18% of the participants. The majority of these continued their training, mainly through home-based exercise, but reduced their weekly training time (-8 median hours/week). A positive association was found between regularly adopted weekly training volume and that assumed during pandemic closure (OR 9.433, CI95% 1.644-54.137, p = 0.012), suggesting that the previous level of engagement in sport can represent a predictor of exercise maintenance in challenging situations such as a pandemic. Further studies are needed to identify personal, environmental, and social resources that can help individuals to counteract the negative effects of restriction measures

    Prevention and treatment of infectious complications after urogenital prosthesis surgery

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    Prostheses are widely used in urogenital surgery for many decades and have gained a fundamental role in the management of multiple diseases with good results in terms of functionality, aesthetic outcomes and patients\u2019 satisfaction. It is remarkable that prosthetic device vary in term of mechanical sophistication, costs and surgical implantation techniques ranging from simple device widely used in urological practice like testicular prosthesis to highly sophisticated devices as Inflatable Penile Prosthesis (IPP) and Artificial Urinary Sphincter (AUS). Despite continuous implementations of the devices and improvements of surgical implantation techniques infective complications are still fearful and not uncommon events. Risk of infection depends on patients\u2019 individual features, perioperative strategies, implantation techniques and prosthetic devices. Prevent these complications is imperative because the management of prosthesis infection requires removal of the device in most cases. Centres that plan prosthetic implantations should based on these strategies protocols in order to prevent as far as possible infective complications

    Recent results and perspectives on cosmology and fundamental physics from microwave surveys

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    Recent cosmic microwave background data in temperature and polarization have reached high precision in estimating all the parameters that describe the current so-called standard cosmological model. Recent results about the integrated Sachs-Wolfe effect from cosmic microwave background anisotropies, galaxy surveys, and their cross-correlations are presented. Looking at fine signatures in the cosmic microwave background, such as the lack of power at low multipoles, the primordial power spectrum and the bounds on non-Gaussianities, complemented by galaxy surveys, we discuss inflationary physics and the generation of primordial perturbations in the early Universe. Three important topics in particle physics, the bounds on neutrinos masses and parameters, on thermal axion mass and on the neutron lifetime derived from cosmological data are reviewed, with attention to the comparison with laboratory experiment results. Recent results from cosmic polarization rotation analyses aimed at testing the Einstein equivalence principle are presented. Finally, we discuss the perspectives of next radio facilities for the improvement of the analysis of future cosmic microwave background spectral distortion experiments.Comment: 27 pages, 9 figures. Review Article. International Journal of Modern Physics D, in press. [Will appear also on the proceedings of the Fourteenth Marcel Grossmann Meeting University of Rome "La Sapienza" - Rome, July 12-18, 2015 (http://www.icra.it/mg/mg14/), eds. Robert T. Jantzen, Kjell Rosquist, Remo Ruffini. World Scientific, Singapore

    The spectrum of REM sleep-related episodes in children with type 1 narcolepsy

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    Type 1 narcolepsy is a central hypersomnia due to the loss of hypocretin-producing neurons and characterized by cataplexy, excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. In children, close to the disease onset, type 1 narcolepsy has peculiar clinical features with severe cataplexy and a complex admixture of movement disorders occurring while awake. Motor dyscontrol during sleep has never been systematically investigated. Suspecting that abnormal motor control might affect also sleep, we systematically analysed motor events recorded by means of video polysomnography in 40 children with type 1 narcolepsy (20 females; mean age 11.8 \ub1 2.6 years) and compared these data with those recorded in 22 age- and sex-matched healthy controls. Motor events were classified as elementary movements, if brief and non-purposeful and complex behaviours, if simulating purposeful behaviours. Complex behaviours occurring during REM sleep were further classified as 'classically-defined' and 'pantomime-like' REM sleep behaviour disorder episodes, based on their duration and on their pattern (i.e. brief and vivid-energetic in the first case, longer and with subcontinuous gesturing mimicking daily life activity in the second case). Elementary movements emerging either from non-REM or REM sleep were present in both groups, even if those emerging from REM sleep were more numerous in the group of patients. Conversely, complex behaviours could be detected only in children with type 1 narcolepsy and were observed in 13 patients, with six having 'classically-defined' REM sleep behaviour disorder episodes and seven having 'pantomime-like' REM sleep behaviour disorder episodes. Complex behaviours during REM sleep tended to recur in a stereotyped fashion for several times during the night, up to be almost continuous. Patients displaying a more severe motor dyscontrol during REM sleep had also more severe motor disorder during daytime (i.e. status cataplecticus) and more complaints of disrupted nocturnal sleep and of excessive daytime sleepiness. The neurophysiological hallmark of this severe motor dyscontrol during REM sleep was a decreased atonia index. The present study reports for the first time the occurrence of a severe and peculiar motor disorder during REM sleep in paediatric type 1 narcolepsy and confirms the presence of a severe motor dyscontrol in these patients, emerging not only from wakefulness (i.e. status cataplecticus), but also from sleep (i.e. complex behaviours during REM sleep). This is probably related to the acute imbalance of the hypocretinergic system, which physiologically acts by promoting movements during wakefulness and suppressing them during sleep
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