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.

A Leaky Deep Intronic Splice Variant in Is Associated with Non-Syndromic Retinitis Pigmentosa.

Background: Inherited retinal diseases (IRDs) are clinically complex and genetically heterogeneous visual impairment disorders with varying penetrance and severity. Disease-causing variants in at least 289 nuclear and mitochondrial genes have been implicated in their pathogenesis.

Methods: Whole exome sequencing results were analyzed using established pipelines and the results were further confirmed by Sanger sequencing and minigene splicing assay.

Enhancing Efficiency, Stability, and Cycle Life of Lithium Metal Electrodeposition in Dry Solid-State Polymer Electrolytes.

Dry solid polymer electrolytes (SPEs), particularly those based on poly(ethylene oxide) (PEO), hold significant potential for advancing solid-state Li-metal battery (LMB) technology. Despite extensive research over the years, a comprehensive evaluation of Coulombic efficiency (CE), deposit stability, and cycle life for reversible Li metal electrodeposition in SPE-based cells is still lacking. In this study, we systematically assess the effect of cycling conditions on the CE of Li|SPE|Cu half cells and provide a thorough examination of different electrolyte chemistries, highlighting and explaining their performance across various parameters.

Obstetric Violence (OV) Consequences and Coping Strategies: Insights Through the Voices of Arab and Jewish Women in Israel.

This qualitative research amplifies the voices of Jewish and Arab women in Israel, illuminating their experiences with obstetric violence, its consequences, and coping strategies. The premise of this study is the feminist approach that aims to eradicate phenomena related to gender and patriarchal structures affecting women, their bodies, and their health. The research was based on the qualitative-constructivist methodology, by means of thematic analysis of 20 in-depth semistructured interviews.

Treatment of restless legs syndrome and periodic limb movement disorder: an American Academy of Sleep Medicine clinical practice guideline.

Introduction: This guideline establishes clinical practice recommendations for treatment of restless legs syndrome (RLS) and periodic limb movement disorder (PLMD) in adults and pediatric patients.

Methods: The American Academy of Sleep Medicine (AASM) commissioned a task force of experts in sleep medicine to develop recommendations and assign strengths based on a systematic review of the literature and an assessment of the evidence using the grading of recommendations assessment, development, and evaluation methodology. The task force provided a summary of the relevant literature and the certainty of evidence, the balance of benefits and harms, patient values and preferences, and resource use considerations that support the recommendations.