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.

Atypical Location of Papillary Fibroelastoma in a Patient With Significant Oncologic History.

This report discusses the case of a 57-year-old woman with a history of breast cancer and gastric cancer, germline CDH1 gene mutation, who presented to the hospital with syncope. Diagnostic workup revealed a mass in the right ventricular outflow tract. Transcatheter biopsy suggested papillary fibroelastoma, which was confirmed with surgical pathology.

Thermogravimetric analysis of rice husk and low-density polyethylene co-pyrolysis: kinetic and thermodynamic parameters.

The purpose of this study is to examine how co-pyrolysis of low-density polyethylene (LDPE) and rice husk is impacted by LDPE. It also looks into the physicochemical characteristics, thermal behavior, and kinetic parameters of these materials. To understand the thermal behavior through TGA, rice husk and LDPE blends in the ratios of LDPE: RH (50:50), LDPE: RH (25:75), and LDPE: RH (75:25) were prepared and tested.

CareHPV, Papanicolaou Positivity Status, and Their Association With Behavioral Risk Factors in Rural Women of Kamrup District, Assam, India.

Background And Objectives: Screening of rural women of Assam by careHPV test for high-risk HPV (hr-HPV) DNA and Papanicolaou (PAP) test for abnormal cytology.

Method: This prospective cross-sectional study included 480 non-pregnant women participants aged 20-70 years from Kamrup District, Assam. Two cervical scrap samples were obtained from eligible enrolled women.

Extensive Myocardial Calcification Rapidly Progressing After Orthotopic Liver Transplantation.

Orthotopic liver transplantation has been rarely associated with myocardial calcification; no prior cases of asymptomatic calcification have been documented. We present the unique finding of asymptomatic myocardial calcification following orthotopic liver transplantation.