Optimized breath analysis: customized analytical methods and enhanced workflow for broader detection of VOCs.

Introduction: Breath Volatile organic compounds (VOCs) are promising biomarkers for clinical purposes due to their unique properties. Translation of VOC biomarkers into the clinic depends on identification and validation: a challenge requiring collaboration, well-established protocols, and cross-comparison of data. Previously, we developed a breath collection and analysis method, resulting in 148 breath-borne VOCs identified.

A US-Based Multi-Site Pilot to Screen Hepatitis B Surface Antigen-Positive Patients for Hepatitis D.

Hepatitis D (HDV) is a severe infection with well-recognised clinical ramifications that remains relatively neglected and underdiagnosed; consequently, the epidemiology of HDV is poorly characterised, both in the United States and globally. In 2022, a pilot project involving eight healthcare institutions was undertaken to ascertain the prevalence of HDV in healthcare institutions with an HBV seropositivity of at least 1%, describe the characteristics of patients testing positive for HDV, and evaluate diagnostic and laboratory processes of HDV screening. From August 2022 to April 2024, a total of 106,693 patients were tested for HBsAg, of whom 65,341 (61.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.