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.

Co-occurring Change in Electronic Nicotine Delivery System (ENDS) and Cigarette Harm Perceptions and Use in Young Adults.

Introduction: Use of electronic nicotine delivery systems (ENDS) may contribute to cigarette use and nicotine addiction by shifting perceptions and norms around tobacco, but little is known about whether or how ENDS use and norms are related to cigarette use and norms, particularly among young adults. This study tested two potential mechanisms by which END use may facilitate cigarette use: decreasing tobacco harm perceptions (desensitization) and increasing favorability of tobacco use (renormalization).

Method: Analyses included data from 2187 young adults in a longitudinal panel who reported any ENDS or combustible cigarette use at ages 21, 23, or 26.

A powerful framework for differential co-expression analysis of general risk factors.

Differential co-expression analysis (DCA) aims to identify genes in a pathway whose shared expression depends on a risk factor. While DCA provides insights into the biological activity of diseases, existing methods are limited to categorical risk factors and/or suffer from bias due to batch and variance-specific effects. We propose a new framework, Kernel-based Differential Co-expression Analysis (KDCA), that harnesses correlation patterns between genes in a pathway to detect differential co-expression arising from general (i.

Disability and Patient-Reported Satisfaction in Women with Idiopathic Intracranial Hypertension: A Comparative Study of Venous Sinus Stenting and Medical Management.

Objective: Patients with chronic idiopathic intracranial hypertension (IIH) commonly experience a high level of disability and low satisfaction with medical treatment. We aim to evaluate long-term functional improvement and patient satisfaction in IIH patients with similar symptoms by comparing venous sinus stenting (VSS) to standard medical therapy.

Methods: We conducted a cross-sectional questionnaire study of 111 IIH patients, comparing 37 adult female patients who underwent venous sinus stenting with 74 patients treated medically.