A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?

Background & Aim: Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients. Guidelines lack data if both variants of 24 h-UCE measurement (with or without 48 h of treatment interruption) are equally interpretable.

Methods: Eighty-four patients with a confirmed diagnosis of WD treated with chelators (50% of patients with D-Penicillamine and 50% with trientine) and with pairwise 24-h-UCE values on-therapy and off-therapy were included in the analysis.

Multiomic analysis reveals cellular, transcriptomic and epigenetic changes in intestinal pouches of ulcerative colitis patients.

Total proctocolectomy with ileal pouch anal anastomosis is the standard of care for patients with severe ulcerative colitis. We generated a cell-type-resolved transcriptional and epigenetic atlas of ileal pouches using scRNA-seq and scATAC-seq data from paired biopsy samples of the ileal pouch and the ileal segment above the pouch (pre-pouch) from patients (male=4, female=2), and paired biopsies of the terminal ileum and ascending colon from healthy individuals (male=3, female=3) serving as reference. Our study finds an additional population of absorptive and secretory epithelial cells within the pouch but not the pre-pouch.

Clinical toxicity of nitazene detections in two Australian emergency department toxicosurveillance systems.

Introduction: Nitazenes are a group of potent synthetic opioids that have had increasing prominence as novel psychoactive drugs in the last 5 years. We describe emergency department nitazene-related presentations.

Methods: This is a prospective series of patients with analytically confirmed nitazene presentations identified by the Emerging Drugs Network of Australia and Emerging Drugs Network of Australia Victoria.

SD-OCT-histopathologic correlation in Schnabel's cavernous optic nerve atrophy.

Background: Until now, Schnabel's cavernous optic nerve atrophy (SCONA) has solely been a histopathological diagnosis exhibiting variable degrees of optic nerve (ON) atrophy with characteristic cavernous spaces filled with acid mucopolysaccharides. We report the first correlation of histopathologic findings with spectral domain-optical coherence tomography (SD-OCT) imaging in SCONA.

Methods: We examined the eye of an index patient with histopathologically identified SCONA who had undergone multimodal imaging before enucleation for iris ring melanoma.