Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.
Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.
Pediatric acute myeloid leukemia frequently harbor fusion oncogenes associated with poor prognosis, including KMT2A, NUP98 and GLIS2 rearrangements. While murine models have demonstrated their leukemogenic activities, the steps from a normal human cell to leukemic blasts remain unclear. Here, we precisely reproduced the inversion of chromosome 16 resulting in ETO2::GLIS2 fusion in human induced pluripotent stem cells (iPSC).
View Article and Find Full Text PDFBackground And Aims: Inflammatory pouch disorders exhibit a heterogeneous clinical spectrum and therapeutic requirements have not been properly studied.
Methods: This retrospective, multicentre study included ulcerative colitis patients with ileal pouch construction and were later diagnosed with an inflammatory pouch disorder between 1995 and 2020. Classifications, behaviour and therapies applied were recorded and compared in the long-term.
Background: Telemonitoring for inflammatory bowel disease (IBD) has not consistently demonstrated superiority over standard care; however, noninferiority may be an acceptable outcome if remote care proves to be more efficient.
Objective: This study aims to compare the remission time and quality of life of patients with active IBD managed through standard care versus the TECCU (Telemonitoring of Crohn Disease and Ulcerative Colitis) app.
Methods: A 2-arm, randomized, multicenter trial with a noninferiority design was conducted across 24 hospitals in Spain.
Extranodal NK/T-cell lymphoma (ENKTCL) is an Epstein-Barr virus (EBV)-related neoplasm with male dominance and a poor prognosis. A better understanding of the genetic alterations and their functional roles in ENKTCL could help improve patient stratification and treatments. In this study, we performed a comprehensive genetic analysis of 178 ENKTCL cases to delineate the landscape of mutations, copy number alterations (CNA), and structural variations, identifying 34 driver genes including six previously unappreciated ones, namely, HLA-B, HLA-C, ROBO1, CD58, POT1, and MAP2K1.
View Article and Find Full Text PDFThe recent development of single-cell and single-nucleus RNA sequencing has highlighted the extraordinary diversity of dorsal root ganglia neurons. However, the few available genetic tools limit our understanding of the functional significance of this heterogeneity. We generated a new mouse line expressing the flippase recombinase from the locus.
View Article and Find Full Text PDFObjectives: (i) To classify training sessions of elite female cyclists according to an intensity index based on a longitudinal follow-up using multiparametric data collected (ii) to measure the effect of estimated menstrual cycle (MC) phases and oral contraceptive pills (OC) phases on the athletes' training responses on each type of training identified.
Method: Thirteen elite French cyclists were followed up over 30 months and 5,190 training sessions were collected and 81 MC/OCs full cycles analyzed. Power sensors and position devices captured training data , which was summarized into 14 external load variables.
Background: The usefulness of thiopurines has been poorly explored in pouchitis and other pouch disorders.
Objective: To evaluate the effectiveness and safety of azathioprine as maintenance therapy in inflammatory pouch disorders.
Design: This was a retrospective and multicentre study.
The objective is to study the effectiveness of working memory (WM) rehabilitation after Acquired brain injury (ABI) and multiple sclerosis (MS). A systematic database search of published studies, following PRISMA recommendations, with assessment of methodological quality and risk of bias, was conducted. The results were analysed according to the rehabilitation method used.
View Article and Find Full Text PDFBackground: Stenosis is one of the most common complications in patients with Crohn's disease (CD). Endoscopic balloon dilation (EBD) is the treatment of choice for a short stenosis adjacent to the anastomosis from previous surgery. Self-expandable metal stents (SEMS) may be a suitable treatment option for longer stenoses.
View Article and Find Full Text PDFBackground: Inflammatory bowel disease (IBD) care and education might differ around Europe. Therefore, we conducted this European Variation In IBD PracticE suRvey (VIPER) to investigate potential differences between countries.
Methods: This trainee-initiated survey, run through SurveyMonkey®, consisted of 47 questions inquiring basic demographics, IBD training, and clinical care.
Cell segmentation is a key step for a wide variety of biological investigations, especially in the context of muscle science. Currently, automated methods still struggle to perform skeletal muscle fiber quantification on Hematoxylin-Eosin (HE) stained histopathological whole slide images due to low contrast. On the other hand, the Deep Learning algorithm Cellpose offers new perspectives considering its increasing adoption for segmentation of a wide range of cells.
View Article and Find Full Text PDFGarbellotto, L, Petit, E, Brunet, E, Guirronnet, S, Clolus, Y, Gillet, V, Bourdin, H, and Mougin, F. Gradual advance of sleep-wake schedules before an eastward flight and phase adjustment after flight in elite cross-country mountain bikers: effects on sleep and performance. J Strength Cond Res 37(4): 872-880, 2023-Strategies, for alleviating jet lag, specifically targeted to competitive athletes have never been studied, in ecological conditions.
View Article and Find Full Text PDFBackground: Heterogeneity in the treatment of a disease is a marker of suboptimal quality of care. The aim of this study is to evaluate the heterogeneity in the treatment used and the outcomes for Crohn's disease (CD) in Catalonia.
Methods: All patients with CD included in the Catalan Health Surveillance System (data on more than seven million individuals from 2011 to 2017) were identified.
Background: Anaplastic large cell lymphoma positive for ALK (ALK+ ALCL) is a rare type of non-Hodgkin lymphoma. This lymphoma is caused by chromosomal translocations involving the anaplastic lymphoma kinase gene (ALK). In this study, we aimed to identify mechanisms of transformation and therapeutic targets by generating a model of ALK+ ALCL lymphomagenesis ab initio with the specific NPM-ALK fusion.
View Article and Find Full Text PDFBackground And Aims: Patients with colonic inflammatory bowel disease (IBD) have a high risk of colorectal cancer (CRC). Current guidelines recommend endoscopic surveillance, yet epidemiological studies show poor compliance. The aims of our study were to analyse adherence to endoscopic surveillance, its impact on advanced colorectal lesions, and risk factors of non-adherence.
View Article and Find Full Text PDFA large number of power meters have become commercially available during the last decades to provide power output (PO) measurement. Some of these power meters were evaluated for validity in the literature. This study aimed to perform a review of the available literature on the validity of cycling power meters.
View Article and Find Full Text PDFPurpose: X-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a rare immunodeficiency characterized by recurrent hemophagocytic lymphohistiocytosis, splenomegaly, and inflammatory bowel disease. Variants in XIAP including missense, non-sense, frameshift, and deletions of coding exons have been reported to cause XIAP deficiency. We studied three young boys with immunodeficiency displaying XLP-2-like clinical features.
View Article and Find Full Text PDFCircular RNAs (circRNAs) represent a type of endogenous noncoding RNA generated by back-splicing events. Unlike the majority of RNAs, circRNAs are covalently closed, without a 5' end or a 3' poly(A) tail. A few circRNAs can be associated with polysomes, suggesting a protein-coding potential.
View Article and Find Full Text PDFEwing sarcoma is characterized by pathognomonic translocations, most frequently fusing with . An estimated 30% of Ewing sarcoma tumors also display genetic alterations in , , or (). Numerous attempts to develop relevant Ewing sarcoma models from primary human cells have been unsuccessful in faithfully recapitulating the phenotypic, transcriptomic, and epigenetic features of Ewing sarcoma.
View Article and Find Full Text PDFJ Sports Med Phys Fitness
February 2022
Background: Despite growing interest in athletes' sleep, few studies have focused on professional athletes, especially in individual sports. Moreover, limited investigations included female athletes. This study aimed to evaluate sleep chronotype, as well as objective and subjective sleep characteristics in male and female professional cross-country mountain bikers.
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