Grownup onset Stills disease within a patient using scleroderma scenario report

The multivariate analysis demonstrated that patients with less then 6 liquid stools per day at day 3 (hazard ratio 0.56, 95%CI [0.34-0.91]), a partial Mayo Clinic score less then 2 at day 5 (0.41 [0.21-0.80]) and anti-TNF maintenance therapy (0.37 [0.16-0.87]) were less likely to relapse. The probabilities of colectomy-free survival were 96%, 95% and 91% at 1, 2 and 5 years respectively. CONCLUSION Despite a high relapse rate, patients with ASUC responding to IVS had a low rate of colectomy after 5 years of follow-up. Early response to IVS and maintenance therapy with biological agents were associated with a lower rate of relapse. © 2020 John Wiley & Sons Ltd.AIMS The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant inheritance. Our objective was to confirm the existence of autosomal dominant calpainopathies. METHODS Through our activity as one of the reference centres for genetic diagnosis of calpainopathies in France and the resulting collaborations through the French National Network for Rare Neuromuscular Diseases (FILNEMUS), we identified four families harbouring the same CAPN3 heterozygous variant with supposedly autosomal dominant inheritance. RESULTS We identified a novel dominantly inherited CAPN3 variant, c.1333G>A [p.(Gly445Arg)] in 14 affected patients from four unrelated families. The complementary phenotypic, functional and genetic findings correlate with an autosomal dominant inheritance in these families, emphasizing the existence of this novel transmission mode for calpainopathies. The mild phenotype associated with these autosomal dominant cases widens the phenotypic spectrum of calpainopathies and should therefore be considered in clinical practice. CONCLUSIONS We confirm the existence of autosomal dominant calpainopathies as an entity beyond the cases related to the in-frame deletions c.643_663del21 and c.598_612del15, with the identification of a novel dominantly inherited and well-documented CAPN3 missense variant, c.1333G>A [p.(Gly445Arg)]. In addition to the consequences for genetic counselling, the confirmation of an autosomal dominant transmission mode for calpainopathies underlines the importance of re-assessing other myopathies for which the inheritance is considered as strictly autosomal recessive. This article is protected by copyright. All rights reserved.BACKGROUND Previous studies examining the time to initiate chemoradiation (CRT) after surgical resection of glioblastoma have been conflicting. To better define the effect that the timing of adjuvant treatment may have on outcomes, the authors examined patients within the National Cancer Database (NCDB) stratified by a validated prognostic classification system. METHODS Patients with glioblastoma in the NCDB who underwent surgery and CRT from 2004 through 2013 were analyzed. Radiation Therapy Oncology Group recursive partitioning analysis (RPA) class (III, IV, V) was extrapolated for the cohort. Time intervals were grouped weekly, with weeks 4 to 5 serving as the reference category for analyses. Kaplan-Meier analysis, log-rank testing, and multivariate (MVA) Cox proportional hazards regression were performed. RESULTS In total, 30,414 patients were included. RPA classes III, IV, and V contained 5250, 20,855, and 4309 patients, respectively. On MVA, no time point after week 5 was associated with a change in overall survival for the entire cohort or for any RPA class subgroup. The periods of weeks 0 to 1 (hazard ratio [HR], 1.18; 95% CI, 1.02-1.36), >1 to 2 (HR, 1.23; 95% CI, 1.16-1.31), and >2 to 3 (HR, 1.11; 95% CI, 1.07-1.15) demonstrated slightly worse overall survival (all P  less then  .03). The detriment to early initiation was consistent across each RPA class subgroup. CONCLUSIONS The current data provide insight into the optimal timing of CRT in patients with glioblastoma and describe RPA class-specific outcomes. In general, short delays beyond 5 weeks did not negatively affect outcomes, whereas early initiation before 3 weeks may be detrimental. © 2020 American Cancer Society.In this age of 'fake news', it is crucial that children are equipped with the skills to identify unreliable information online. Our study is the first to examine whether children are influenced by the presence of inaccuracies contained in webpages when deciding which sources to trust. Forty-eight 8- to 10-year-olds viewed three pairs of webpages, relating to the same topics, where one webpage per pair contained three obvious inaccuracies (factual, typographical, or exaggerations, according to condition). The paired webpages offered conflicting claims about two novel facts. We asked participants questions pertaining to the novel facts to assess whether they systematically selected answers from the accurate sources. Selective trust in the accurate webpage was found in the typos condition only. This study highlights the limitations of 8- to 10-year-olds in critically evaluating the accuracy of webpage content and indicates a potential focus for educational intervention. Statement of contribution What is already known on this subject? Children display early epistemic vigilance towards spoken testimony. They use speakers' past accuracy when deciding whom to trust regarding novel information. Little is known about children's selective trust towards web-based sources. What does this study add? This study is the first to examine whether textual inaccuracy affects children's trust in webpages. selleck chemicals llc Typos but not semantic errors led to reduced trust in a webpage compared to an accurate source. Children aged 8-10 years show limited evaluation of the accuracy of online content. © 2020 The Authors. British Journal of Developmental Psychology published by John Wiley & Sons Ltd on behalf of British Psychological Society.BACKGROUND AND OBJECTIVE Optimal sample storage conditions are essential for non-invasive prenatal testing of cell-free fetal and total DNA. We investigated the effect of long-term storage of plasma samples and extracted cfDNA using qPCR. MATERIALS AND METHODS Fetal and total cfDNA yield and fetal fraction were calculated before and after storage of plasma for 0-6 years at -25°C. Dilution experiments were performed to investigate PCR inhibition. Extraction with or without proteinase K was used to examine protein dissociation. Storage of extracted cfDNA was investigated by testing aliquots immediately, and after 18 months and 3 years of storage at -25°C. RESULTS We observed a marked increase in the levels of amplifiable fetal and total DNA in plasma stored for 2-3 years, and fetal fraction was slightly decreased after 3 years of storage. cfDNA detection was independent of proteinase K during DNA extraction in plasma samples stored >2 years, indicating a loss of proteins from DNA over time, which was likely to account for the observed increase in DNA yields.