Coeliac disease in the ERA of the new ESPGHAN and BSPGHAN guidelines: a prospective cohort study

To evaluate the consequences of the last European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) guidelines for the diagnosis of coeliac disease (CD) by means of a prospective study

Lateral displacement of the inner canthi in a child of deaf parents

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Celiachia senza biopsia: Dalle parole ai fatti

The aim of the present prospective study is to evaluate the clinical consequences of the last ESPGHAN and BSPGHAN guidelines for the diagnosis of Coeliac Disease (CD). All children (aged 0-18 years) diagnosed with CD from January 2011 to May 2014 at the IRCCS Burlo Garofolo of Trieste (Italy) were prospectively enrolled. Children diagnosed without a duodenal biopsy (Group 1) were matched for sex, age, and year of diagnosis to a sample of children diagnosed with a duodenal biopsy (Group 2). All patients were put on Gluten Free Diet (GFD) and followed-up for clinical condition, BMI, and laboratory tests (haemoglobin, serum anti-transglutaminase IgA antibodies) at six months and every year since diagnosis (median follow-up: 1.9 years). Adherence to GFD and quality of life of children were assessed through validated questionnaires. 51 out of 468 (11%) patients were diagnosed without a duodenal biopsy (Group 1; median age 2.1 years) and matched to 92 patients diagnosed with a biopsy (Group 2; median age 2.4 years). At the end of the follow-up the two groups resulted statistically comparable for clinical and nutritional status, serum anti-transglutaminase IgA antibodies titres, quality of life, adherence to GFD, and number of supplementary post-diagnosis medical consultations. The diagnosis of CD can be safely performed without a duodenal biopsy at least in 11% of cases. At least during a medium-term follow-up, this approach has no negative

Synchrotron Radiation Study of Gain, Noise, and Collection Efficiency of GaAs SAM-APDs with Staircase Structure

In hard X-ray applications that require high detection efficiency and short response times, such as synchrotron radiation-based Mössbauer absorption spectroscopy and time-resolved fluorescence or photon beam position monitoring, III–V-compound semiconductors, and dedicated alloys offer some advantages over the Si-based technologies traditionally used in solid-state photodetectors. Amongst them, gallium arsenide (GaAs) is one of the most valuable materials thanks to its unique characteristics. At the same time, implementing charge-multiplication mechanisms within the sensor may become of critical importance in cases where the photogenerated signal needs an intrinsic amplification before being acquired by the front-end electronics, such as in the case of a very weak photon flux or when single-photon detection is required. Some GaAs-based avalanche photodiodes (APDs) were grown by a molecular beam epitaxy to fulfill these needs; by means of band gap engineering, we realised devices with separate absorption and multiplication region(s) (SAM), the latter featuring a so-called staircase structure to reduce the multiplication noise. This work reports on the experimental characterisations of gain, noise, and charge collection efficiencies of three series of GaAs APDs featuring different thicknesses of the absorption regions. These devices have been developed to investigate the role of such thicknesses and the presence of traps or defects at the metal–semiconductor interfaces responsible for charge loss, in order to lay the groundwork for the future development of very thick GaAs devices (thicker than 100 [Formula: see text] m) for hard X-rays. Several measurements were carried out on such devices with both lasers and synchrotron light sources, inducing photon absorption with X-ray microbeams at variable and controlled depths. In this way, we verified both the role of the thickness of the absorption region in the collection efficiency and the possibility of using the APDs without reaching the punch-through voltage, thus preventing the noise induced by charge multiplication in the absorption region. These devices, with thicknesses suitable for soft X-ray detection, have also shown good characteristics in terms of internal amplification and reduction of multiplication noise, in line with numerical simulations

Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib.

Sunitinib is the currently standard treatment for metastatic renal cell carcinoma (mRCC). Multiple candidate predictive biomarkers for sunitinib response have been evaluated but none of them has been implemented in the clinic yet. The aim of this study was to analyze single nucleotide polymorphisms (SNPs) in genes linked to mode of action of sunitinib and immune response as biomarkers for mRCC. This is a multicenter, prospective and observational study involving 20 hospitals. Seventy-five mRCC patients treated with sunitinib as first line were used to assess the impact of 63 SNPs in 31 candidate genes on clinical outcome. rs2243250 (IL4) and rs5275 (PTGS2) were found to be significantly associated with shorter cancer-specific survival (CSS). Moreover, allele C (rs5275) was associated with higher PTGS2 expression level confirming its functional role. Combination of rs5275 and rs7651265 or rs2243250 for progression free survival (PFS) or CSS, respectively, was a more valuable predictive biomarker remaining significant after correction for multiple testing. It is the first time that association of rs5275 with survival in mRCC patients is described. Two-SNP models containing this functional variant may serve as more predictive biomarkers for sunitinib and could suppose a clinically relevant tool to improve the mRCC patient management