A Comparative Analysis of the Sensitivity, Specificity, Concordance, and the 5-year Predictive Power of Diabetes-related Autoantibody Assays.

This study compares novel type 1 diabetes-related autoantibody assays developed to improve upon the standard radiobinding assay (RBA). Samples from 1505 individuals, followed for 5 years or to clinical type 1 diabetes, originally tested by RBA were aliquoted and sent blindly to 5 laboratories (BDC, IDR, DRI, MSD, Enable) to be tested by electrochemiluminescence (ECL) assays, Luciferase Immuno Precipitation System (LIPS) assays, multiplex antibody detection by agglutination-PCR (ADAP) assays, and N-terminally truncated GAD65 or IA2β autoantibody RBAs (tGADA/IA2βA). Findings: The fraction of samples that were concordant for negative/positive interpretations across all assays were 79.

Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.

Background: Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the Generative Pretrained Transformer (GPT) predominantly consist of English-language texts, but LLMs could be used across the globe to support diagnostics if language barriers could be overcome. Initial pilot studies on the utility of LLMs for differential diagnosis in languages other than English have shown promise, but a large-scale assessment on the relative performance of these models in a variety of European and non-European languages on a comprehensive corpus of challenging rare-disease cases is lacking.

Implementing a pre-exposure prophylaxis (PrEP) promotion intervention among persons who inject drugs: Perspectives from community and research implementation partners.

Background: Clinical guidelines recommend pre-exposure prophylaxis (PrEP) to prevent HIV among persons who inject drugs (PWID), yet few are reached by this evidence-based intervention. To address this challenge, we are conducting a clinical trial to evaluate the impact of contingency management (CM) with stepped care to PrEP adherence and support services (PASS) among PWID. We sought to elicit perspectives from community- and research-based implementation partners on barriers and facilitators to implementing this intervention package as well as describe perspectives around evidence-based research practices in general.

The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics.

Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a century, vast quantities of phenotype data have been collected in many different contexts covering a variety of organisms. The emerging field of phenomics focuses on integrating and interpreting these data to inform biological hypotheses.

Use of food restrictions to prevent infections in paediatric patients with cancer and haematopoietic cell transplantation recipients: a systematic review and clinical practice guideline.

Background: Food restrictions during periods of neutropenia have been widely used in oncology settings to prevent infections. As there is a lack of clearly demonstrated effectiveness, this strategy is being increasingly questioned.

Methods: A multi-national panel of 23 individuals was convened to develop a clinical practice guideline (CPG) on the use of food restrictions to prevent infections in paediatric patients with cancer and haematopoietic cell transplantation (HCT) recipients.