Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected.

The Barriers to Rapid Reperfusion in Acute ST-Elevation Myocardial Infarction.

Introduction: This study aimed to quantify the contribution of various obstacles to timely reperfusion therapy in acute ST-elevation myocardial infarction (STEMI) and to improve performance in a mixed remote rural/urban region.

Methods: From November 1, 2020 to April 23, 2021, patients with acute STEMI were prospectively monitored with the critical time intervals, treatment modalities, and outcomes registered. Selected clinical decision-makers in 11 hospitals were appointed as improvement agents and systematically provided with weekly updated information about absolute and relative performance.

Impact of dental restorations and removable prostheses on potentially malignant oral mucosal disorders in the general population.

Statement Of Problem: Dental restorations and removable dental prostheses have been considered as risk factors for potentially malignant disorders of the oral mucosa. It remains unclear whether amalgam, composite resins, and prosthesis materials can induce potentially malignant disorders.

Purpose: The purpose of this clinical study was to determine the relationship between the presence of amalgam and composite resin restorations, crowns and fixed partial dentures, and removable prostheses in potentially malignant disorders.

SHIP-MR and Radiology: 12 Years of Whole-Body Magnetic Resonance Imaging in a Single Center.

The Study of Health in Pomerania (SHIP), a population-based study from a rural state in northeastern Germany with a relatively poor life expectancy, supplemented its comprehensive examination program in 2008 with whole-body MR imaging at 1.5 T (SHIP-MR). We reviewed more than 100 publications that used the SHIP-MR data and analyzed which sequences already produced fruitful scientific outputs and which manuscripts have been referenced frequently.