Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis.

Aetiology of chronic liver disease is a valuable factor for stratifying adverse outcomes of acute decompensation: prospective observational study.

Background/aims: Acute decompensation (AD) is defined as the development of complications related to portal hypertension and liver dysfunction that affect the progression of chronic liver disease (CLD) or liver cirrhosis (LC). Variations exist in patient demographics and prognostic outcomes of AD based on the aetiology of CLD, encompassing LC. However, limited research has been conducted to analyse these discrepancies across aetiologies.

Risk factors affecting polygenic score performance across diverse cohorts.

Apart from ancestry, personal or environmental covariates may contribute to differences in polygenic score (PGS) performance. We analyzed the effects of covariate stratification and interaction on body mass index (BMI) PGS (PGS) across four cohorts of European (N = 491,111) and African (N = 21,612) ancestry. Stratifying on binary covariates and quintiles for continuous covariates, 18/62 covariates had significant and replicable R differences among strata.

Usefulness of preprocedural 3-dimensional computed tomography planning in assisting one-stage pulmonary veins isolation with concomitant left atrial appendage occlusion procedure: A pilot study.

Background: The optimal imaging modality for selecting the device size in patients with atrial fibrillation undergoing one-stop left atrial appendage occlusion (LAAO) with concomitant pulmonary vein isolation (PVi) remains undefined. We compared preprocedural 3-dimensional computed tomography (3D CT) with intra-procedural transesophageal echocardiography (TEE) and left atrial appendage (LAA) angiography in guiding one-stage PVi and LAAO.

Methods: We measured the LAA ostium diameter using an interactive 3D CT system with a central line-based approach and compared these measurements with those from intra-procedural TEE and angiography, and the actual device size.

Increased risk of adenomatous colon polyps in patients with long-term use of proton pump inhibitors: a single-center retrospective study.

Background: It is unclear whether long-term use of proton pump inhibitors (PPIs) has a potential carcinogenic effect on the colorectum.

Methods: We reviewed a consecutive series of neurosurgery outpatients who underwent two or more colonoscopies between January 2014 and April 2023. Patients in whom the timing of endoscopy was not in accordance with the guidelines and those without a history of previous endoscopy were excluded.