De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

The TL1A inhibitors in IBD: what's in the pot?

Introduction: Inflammatory bowel diseases (IBD), encompassing Crohn's disease (CD) and ulcerative colitis (UC), present ongoing challenges despite advances in pathophysiological understanding and therapeutic options. Current therapies often fail to achieve sustained remission, necessitating exploration of novel treatment targets.

Areas Covered: This review explores the role of Tumor Necrosis Factor-like cytokine 1A (TL1A) and its receptor DR3 in IBD pathogenesis, detailing their involvement in mucosal homeostasis and immune modulation.

Prevalence, Risk Factors and Association with Clinical Outcomes of Malnutrition and Sarcopenia in Inflammatory Bowel Disease: A Prospective Study.

Introduction: The prevalences of malnutrition and sarcopenia in patients with IBD are not precisely known, and nutritional assessment is not standardized. We assessed the prevalence and risk factors of these conditions in outpatients and their impact on clinical outcomes.

Methods: This prospective longitudinal study considered patients who had IBD for at least one year, were attending a tertiary IBD center, and were followed for the subsequent year.

Mannitol for bowel preparation: Efficacy and safety results from the SATISFACTION randomised clinical trial.

Background: Bowel preparation represents a significant issue to high-quality colonoscopy. Oral mannitol requires a single dose, is of low volume, and has a pleasant taste and rapid action.

Aims: This SATISFACTION study compared single-dose (same day) oral mannitol 100 g/750 mL with standard split-dose PEG-ASC2 L (MoviPrep®).

Correction: Efficacy of novel endoscopic hemostatic agent for bleeding control and prevention: Results from a prospective, multicenter national registry.

[This corrects the article DOI: 10.1055/a-2406-7492.].

Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.

Variants in rhodopsin (RHO) have been linked to autosomal dominant congenital stationary night blindness (adCSNB), which affects the ability to see in dim light, and the pathogenetic mechanism is still not well understood. In this study we report two novel RHO variants found in adCSNB families, p.W265R and p.

Patient journey in gastroesophageal reflux disease: real-world perspectives from Italian gastroenterologists, primary care physicians, and ENT specialists.

Background: Gastroesophageal reflux disease (GERD) is a challenging condition that involves different physicians, such as general practitioners (GPs), gastroenterologists, and ears, nose and throat (ENT) specialists. A common approach consists of proton-pump inhibitors (PPIs) administration. Adjunctive pharmacological treatment may have a role in the management of non-responders to PPIs.

SIED-GISCOR recommendations for colonoscopy in screening programs: Part I - Diagnostic.

The implementation of FIT programs reduces incidence and mortality from CRC in the screened subjects. The ultimate efficacy for CRC morbidity and mortality prevention in a FIT program depends on the colonoscopy in FIT+ subjects that has the task of detecting and removing these advanced lesions. Recently, there has been growing evidence on factors that influence the quality of colonoscopy specifically withing organized FIT programs, prompting to dedicated interventions in order to maximize the benefit/harm ratio of post-FIT colonoscopy.

Linear EUS Accuracy in Preoperative Staging of Gastric Cancer: A Retrospective Multicenter Study.

Introduction: Preoperative gastric cancer (GC) staging is the most reliable prognostic factor that affects therapeutic strategies. Contrast-enhanced computed tomography (CECT) and radial endoscopic ultrasound (R-EUS) scans are the most commonly used staging tools for GC. The accuracy of linear EUS (L-EUS) in this setting is still controversial.

Cancer Risk in Patients Treated with the JAK Inhibitor Tofacitinib: Systematic Review and Meta-Analysis.

Tofacitinib is approved for several immune-mediated inflammatory diseases, but safety concerns have recently been raised. We searched PubMed (accessed on 27 February 2023) for original articles regarding tofacitinib's cancer risk when used for rheumatoid arthritis, ulcerative colitis, Crohn's disease, psoriatic arthritis, and ankylosing spondylitis. Of the 2047 initial records, 22 articles describing 26 controlled studies (including 22 randomized controlled trials) were selected.

Pharmacokinetics of oral mannitol for bowel preparation for colonoscopy.

This study aimed to define the pharmacokinetics (PKs) of oral mannitol used as an osmotic laxative for bowel preparation for colonoscopy. The PKs of oral mannitol was evaluated in a substudy as part of a phase II dose-finding, international, multicenter, randomized, parallel-group, endoscopist-blinded study. Patients were randomly assigned to take 50, 100, or 150 g mannitol.

The role of rectal endoscopic ultrasonography plus fine needle aspirartion and fine needle biopsy in pelvic masses.

Background And Aim: The diagnostic role of endoscopic ultrasound (EUS) guided fine needle aspiration (FNA) and fine needle biopsy (FNB) of pelvic masses has not been well established. We aimed to evaluate the diagnostic accuracy of EUS plus FNA/FNB in suspected local recurrence of pelvic masses.

Materials And Methods: All consecutive patients with a history of lower gastrointestinal and pelvic mass undergone EUS-FNA/FNB were included in the study.

SPACR Encoded by Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium.

Several pathogenic variants have been reported in the gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). and its paralog encode for two proteoglycans, SPACR and SPACRCAN, respectively, which are the main components of the interphotoreceptor matrix (IPM), the extracellular matrix surrounding the photoreceptor cells. To determine the role of SPACR in the pathological mechanisms leading to RP and VMD, we generated a knockout mouse model lacking , the mouse ortholog.

Endoscopic ultrasound-guided fine-needle biopsy with or without macroscopic on-site evaluation: a randomized controlled noninferiority trial.

BACKGROUND : The advantage of using the macroscopic on-site evaluation (MOSE) technique during endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) performed with 22G Franseen needles has not been investigated. We aimed to compare EUS-FNB with MOSE vs. EUS-FNB performed with three needle passes.

Transesophageal endoscopic ultrasound in the diagnosis of the lung masses: a multicenter experience with fine-needle aspiration and fine-needle biopsy needles.

Background And Aim: Intraparenchymal lung masses inaccessible through bronchoscopy or endobronchial ultrasound guidance pose a diagnostic challenge. Furthermore, some fragile or hypoxic patients may be poor candidates for transbronchial approaches. Endoscopic ultrasound-guided fine-needle aspiration/biopsy (EUS-FNA/FNB) offers a potential diagnostic approach to lung cancers adjacent to the esophagus.

Insights into the role of gastrointestinal ultrasound in ulcerative colitis.

Endoscopic evaluation with histological sampling is the gold standard for the diagnosis and follow-up of patients with inflammatory bowel disease (IBD), but in the past few years, gastrointestinal ultrasound (GIUS) has been gaining ground. Due to the transmural nature of inflammation in Crohn's disease, GIUS has been mainly applied in this context. However, GIUS is now being reported to be accurate also for ulcerative colitis (UC).

A prospective study on quality in endoscopic retrograde cholangiopancreatography (ERCP): trend in Italy from the REQUEST study.

Endoscopic retrograde cholangiopancreatography (ERCP) is a complex procedure with a relatively high rate of adverse events. Data on training of operators and fulfillment of quality indicators in Italy are scarce. The goal of this study was to assess the overall quality of ERCP in Italy compared to international standards.

The high rate of spontaneous migration of small size common bile duct stones may allow a significant reduction in unnecessary ERCP and related complications: results of a retrospective, multicenter study.

Introduction: Common bile duct stones (CBDS) can spontaneously migrate through the duodenal papilla. In this case, ERCP could be unnecessary and a significant rate of complications could be avoided. In this study, we aim at retrospectively evaluating the rate of spontaneous stone passage in patients with an imaging diagnosis of CBDS and at analysing the factors associated to spontaneous stone migration.