Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in and : A Case Report and Review of the UPD2 Literature.

We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in , and a variant of uncertain significance in . Biallelic pathogenic variants in lead to sepiapterin reductase deficiency (SRD), a dopa-responsive dystonia. Pathogenic variants in are associated with an autosomal recessive neurodevelopmental disorder characterized by impaired speech and hyperkinetic movements, which has significant clinical overlap with SRD.

Characteristics of Postoperative Atrial Fibrillation and the Effect of Posterior Pericardiotomy.

Background: Postoperative atrial fibrillation (POAF) is a frequent complication of cardiac surgery. However, only a few detailed descriptions of the arrhythmia have been reported. We aim to describe the characteristics, outcomes, and variables associated with POAF and to evaluate how posterior pericardiotomy (PP) affects POAF characteristics.

Intrapatient Tumor Heterogeneity in IHC Interpretation Using PD-L1 IHC 22C3 pharmDx.

Tumor heterogeneity may impact immunohistochemical (IHC) interpretation, thus potentially affecting decision making by treating oncologists for cancer patient management. Programmed cell death ligand-1 (PD-L1) IHC 22C3 pharmDx is a companion diagnostic used as an aid in identifying patient eligibility for treatment with pembrolizumab (KEYTRUDA). This study aims to investigate tumor heterogeneity impact on IHC staining when evaluating PD-L1 expression using PD-L1 IHC 22C3 pharmDx.

Distal Versus Proximal Radial Artery Access for Cardiac Catheterization and Intervention: Design and Rationale of the DIPRA Trial.

Background: Radial artery (RA) catheterization is the access of choice over femoral artery access for most interventional vascular procedures given its safety and faster patient recovery. There has been growing interest in distal radial artery (dRA) access as an alternative to the conventional proximal radial artery (pRA) access. Preserving the RA is important which serves as a potential conduit for future coronary artery bypass surgery, dialysis conduit or preserve the artery for future cardiovascular procedures.

Enteric Glia Play a Critical Role in Promoting the Development of Colorectal Cancer.

Enteric glia are a distinct population of peripheral glial cells in the enteric nervous system that regulate intestinal homeostasis, epithelial barrier integrity, and gut defense. Given these unique attributes, we investigated the impact of enteric glia depletion on tumor development in azoxymethane/dextran sodium sulfate (AOM/DSS)-treated mice, a classical model of colorectal cancer (CRC). Depleting GFAP enteric glia resulted in a profoundly reduced tumor burden in AOM/DSS mice and additionally reduced adenomas in the mouse model of familial adenomatous polyposis, suggesting a tumor-promoting role for these cells at an early premalignant stage.