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Severe combined immunodeficiency (SCID) is characterized by a major T cell deficiency. Infants with SCID are asymptomatic at birth but die from infections in the first year of life if not treated. Survival rates are better for early treatment. SCID therefore meets criteria for newborn screening (NBS). T cell receptor excision circle (TREC) quantification is a reliable marker of T cell deficiency and can be performed using Guthrie cards. The DEPISTREC project was designed to study the feasibility, clinical utility, and cost-effectiveness of generalized SCID screening in France. About 200,000 babies from all over the country were screened at birth with a commercial kit. We determined assay performance and proposed a cutoff for classification of results. Our findings suggest that, given clearly established validation rules and decision-making procedures, the TREC assay is a suitably specific and sensitive method for high-throughput SCID screening. Clinical Trials: NCT02244450

Background: The links between attention deficit hyperactivity disorder (ADHD) and substance use disorders have been the subject of numerous papers. Few studies, however, have focused specifically on the relationship between ADHD and behavioural addictions. The aim of this study was to (i) examine the frequency of pathological and at-risk gamblers having a previous history of ADHD; (ii) give details of the characteristics of this association, and (iii) identify risk factors for a history of ADHD. Methods: 84 pathological and at-risk gamblers were assessed about socio-demographic, gambling and clinical characteristics. Results: Over 25% of the subjects had a history of ADHD. They were characterized as having more severe gambling problems and a higher level of gambling-related cognitions, a higher frequency of psychiatric comorbidities and an elevated risk of suicide. Finally, they differed in their level and type of impulsivity. Among pathological and at-risk gamblers, a high level of impulsivity, or a history of anxiety disorders, constitute risk factors for a comorbidity with ADHD. Conclusion: The association ‘ADHD-problem gambling’ therefore appears to be not only frequent, but also linked to factors that are known to worsen the prognosis. Researching this relationship is therefore important to adapt strategies for effective future therapy.

Background Sinonasal adenocarcinomas are uncommon tumors which develop in the ethmoid sinus after exposure to wood dust. Although the etiology of these tumors is well defined, very little is known about their molecular basis and no diagnostic tool exists for their early detection in high-risk workers. Methods To identify genes involved in this disease, we performed gene expression profiling using cancer-dedicated microarrays, on nine matched samples of sinonasal adenocarcinomas and non-tumor sinusal tissue. Microarray results were validated by quantitative RT-PCR and immunohistochemistry on two additional sets of tumors. Results Among the genes with significant differential expression we selected LGALS4, ACS5, CLU, SRI and CCT5 for further exploration. The overexpression of LGALS4, ACS5, SRI , CCT5 and the downregulation of CLU were confirmed by quantitative RT-PCR. Immunohistochemistry was performed for LGALS4 (Galectin 4), ACS5 (Acyl-CoA synthetase) and CLU (Clusterin) proteins: LGALS4 was highly up-regulated, particularly in the most differentiated tumors, while CLU was lost in all tumors. The expression of ACS5, was more heterogeneous and no correlation was observed with the tumor type. Conclusion Within our microarray study in sinonasal adenocarcinoma we identified two proteins, LGALS4 and CLU, that were significantly differentially expressed in tumors compared to normal tissue. A further evaluation on a new set of tissues, including precancerous stages and low grade tumors, is necessary to evaluate the possibility of using them as diagnostic markers.