Creation of a Novel Ex Vivo 3D Printed Ileal Conduit Task Trainer for Teaching Conduitoscopy Skills.

Objective: To perform endoscopy in patients with urinary diversions requires specific endoscopic skills, which can currently only be gained in clinical practice. We created a 3D-printed ex vivo ileal conduit model (stoma and conduit with ureters and 2 kidneys) to simulate "conduitoscopy" and evaluated the realism and limitations of the model.

Methods: Accurate anatomical features were represented using an appropriate reusable design, realistic mechanical qualities with several material types, and 3D-printed components.

Spontaneous regression of metastatic renal cancer and improvement in IMDC risk criteria prior to cytoreductive nephrectomy.

A 57-year-old male presented with a 2-month history of a cough, weight loss, chest discomfort and night sweats. He was diagnosed with poor prognosis metastatic Renal Cancer (RCC) according to International Metastatic RCC Database Consortium (IMDC) criteria. We observed spontaneous regression of his metastatic disease and concurrent improvement in his IMDC risk stratification.

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human diseases, including cancers and neurological disorders. We applied a next generation sequencing based assay (EPIC-NGS) to investigate genome-wide methylation profiling for >2 M CpGs for 7 individuals with a neurodevelopmental disorder associated with HNRNPU germline pathogenic loss-of-function variants.

Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.

Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterized by developmental delay and congenital anomalies. The SETD1A and SETD2 gene products play a critical role in chromatin-mediated regulation of gene expression. Specific methylation episignatures have been detected for a range of chromatin gene-related NDDs and have impacted clinical practice by improving the interpretation of variant pathogenicity.