Mutations in tumor suppressor genes Vhl and Rassf1a cause DNA damage, chromosomal instability and induce gene expression changes characteristic of clear cell renal cell carcinoma.

RASSF1A is frequently biallelically inactivated in clear cell renal cell carcinoma (ccRCC) due to loss of chromosome 3p and promoter hypermethylation. Here we investigated the cellular and molecular consequences of single and combined deletion of the Rassf1a and Vhl tumor suppressor genes to model the common ccRCC genotype of combined loss of function of RASSF1A and VHL. In mouse embryonic fibroblasts and in primary kidney epithelial cells, double deletion of Rassf1a and Vhl caused chromosomal segregation defects and increased formation of micronuclei, demonstrating that pVHL and RASSF1A function to maintain genomic integrity.

Characteristics and Outcomes of Over a Million Patients with Inflammatory Bowel Disease in Seven Countries: Multinational Cohort Study and Open Data Resource.

Background And Aims: Observational healthcare data are an important tool for delineating patients' inflammatory bowel disease (IBD) journey in real-world settings. However, studies that characterize IBD cohorts typically rely on a single resource, apply diverse eligibility criteria, and extract variable sets of attributes, making comparison between cohorts challenging. We aim to longitudinally describe and compare IBD patient cohorts across multiple geographic regions, employing unified data and analysis framework.

Utility of routine X-ray surveillance following hip sonography for developmental dysplasia in children: a single-center study spanning a decade.

Introduction: This study evaluates the necessity of routine X-ray follow-ups in children with developmental dysplasia of the hip (DDH), identified through Graf hip ultrasound, a standard component of screening in Germany. The purpose of this study was to investigate the occurrence of radiological deterioration in hips that were initially diagnosed and treated according to established guidelines within a university-based risk-enriched cohort and to identify associated risk factors.

Materials And Methods: Patients diagnosed with developmental DDH from 2009 to 2018 with sonographically healthy hips (alpha > 64°) post conservative therapy and at least one follow-up X-ray by the age of two were analysed.