Breaking Patterns: A Case of Dieulafoy Lesion in a Young Patient Without Comorbid Conditions.

A Dieulafoy lesion is an abnormal artery located in the gastric submucosa that represents a rare cause of upper gastrointestinal bleeding. These lesions typically present as massive hemorrhages in older patients, with multiple medical comorbidities. The lesions are diagnosed with endoscopy and treated with hemostasis by clip placement or coagulation.

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.

We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) criteria for assessment of pathogenicity of genetic variants. GeneBe utilizes automated algorithms that evaluate 17 criteria from 28, closely aligning with current guidelines and leveraging data from diverse sources, including ClinVar. The user-friendly web interface enables manual refinement of assignments for specific criteria based on site-collected data.

Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience.

Background: Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.

Aims: This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Background: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family.