Med

O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=111 SRC="FIGDIR/small/25342726v1_ufig1.gif" ALT="Figure 1"> View larger version (36K): org.highwire.dtl.DTLVardef@8edb94org.highwire.dtl.DTLVardef@f20105org.highwire.dtl.DTLVardef@21033corg.highwire.dtl.DTLVardef@15b865e_HPS_FORMAT_FIGEXP M_FIG O_FLOATNOVISUAL ABSTRACT:C_FLOATNO C_FIG Structured phenotypic annotations linked to genetic data can drive diagnostic insight and therapeutic discovery in complex diseases. However, poor research access to the rich ...

Key pointsO_LIWe report findings from a phase 2 study of MY008211A among Chinese men and women aged [≥]18 years with paroxysmal nocturnal hemoglobinuria C_LIO_LIIncreases in hemoglobin of [≥]20 g/L were maintained for up to 44 weeks of treatment with MY008211A in all 34 patientsiv C_LI Explanation of noveltyParoxysmal nocturnal hemoglobinuria is characterized by red blood cell (RBC) destruction and a prothrombotic state.v Treatments exist such as complement 5 inhibitors but these carry th...

BackgroundCarotid artery stenosis is a common cause of ischemic stroke, and carotid artery stenting is an important treatment for carotid artery stenosis. However, current carotid stents face issues such as cumbersome operation procedures and frequent difficulties in retrieving embolic protection devices which can lead to complications. ObjectivesThis study evaluated the safety and efficacy of a novel carotid artery stent system which integrates balloon, stent and embolic protection device retr...

Background & AimsLiver cancer primarily develops in patients with chronic liver disease (CLD), yet most cases are diagnosed at an advanced stage with poor prognosis. While clinical surveillance of patients with CLD generates extensive longitudinal data, its unstructured free-text nature hinders large-scale research. To unlock this real-world evidence, we developed a scalable framework using open-source Large Language Models (LLMs) to transform unstructured clinical text into structured data. Me...

The Updated Sydney System (USS) provides a standardized framework for grading gastritis and stratifying gastric cancer risk. However, subjective observer variability and labor-intensive workflows impede its routine clinical use. To address these challenges, we developed SydneyMTL, a multi-task deep learning framework that uses Multiple Instance Learning (MIL) with task-specific attention pooling to predict severity grades across all five USS attributes simultaneously. Trained on an unprecedented...

The adoption of artificial intelligence in dermatology promises democratized access to healthcare, but model reliability depends on the quality and comprehensiveness of the data fueling these models. Despite rapid growth in publicly available dermatology images, the field lacks quantitative key performance indicators to measure whether new datasets expand clinical coverage or merely replicate what is already known. Here we present SkinMap, a multi-modal framework for the first comprehensive audi...

IntroductionKidney biopsy reports contain rich information that is clinically actionable and useful for research. However, the narrative format hinders scalable reuse. We here investigated whether open-source large language models (LLMs) can extract relevant, standardized readouts from native kidney biopsy pathology reports. MethodsGerman free-text native kidney biopsy reports were parsed with three open-source LLMs (Llama3 70B, Llama3 8B, MedGemma) to generate structured JSON outputs covering ...

BackgroundDistinguishing benign proliferative nodules (PNs) from melanoma arising within congenital melanocytic nevi remains a major diagnostic challenge. Copy number alteration (CNA) analysis is widely used to support classification, but current criteria were developed using array comparative genomic hybridization (aCGH). The performance of alternative platforms such as shallow whole-genome sequencing (sWGS) and methylation arrays in this setting is poorly defined. ObjectivesThe objective of t...

Pathology faces persistent challenges including a global shortage of specialists, uneven access to expertise, increasing diagnostic complexity, and a growing need for second-opinion consultations. While digital and telepathology platforms address parts of this problem, existing solutions often trade accessibility for structured, workflow-aware clinical integration. At the same time, multimodal medical AI shows promise for diagnostic support but raises concerns regarding transparency, automation ...

BackgroundPost-viral diseases, including post-COVID-19 syndrome (PCS) and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), cause substantial long-term morbidity. Persistent cardiovascular (CV) risk after acute infection highlights the need for accessible tools to quantify microvascular health. MethodsAll Eyes on PCS is a prospective, observational study investigating the retinal microcirculation using retinal vessel analysis (RVA). We compared RVA parameters in 102 PCS patients with...

BackgroundDengue virus (DENV) appears to manipulate several cellular metabolic pathways to permit its replication and immune evasion in the host. Here, we employed high-resolution mass spectrometry (HR-MS) to investigate the serum metabolomic landscape of clinical DENV infection. MethodsSerum specimens from primary dengue (n=11), secondary dengue (n=9) samples, and healthy controls (n=10) were used for untargeted and targeted metabolomic quantification on a Waters Xevo G2-XS QTof Mass Spectrome...

BACKGROUNDWhether systolic blood pressure (SBP) time in target range (TTR) associates with cerebral small vessel disease (CSVD) in hypertensive patients remains unclear. METHODSBetween December 2020 and August 2023, participants were prospectively included from the Kailuan study. TTR was calculated using linear interpolation with the SBP target range between 120 and 140 mm Hg from 2006 to 2020. Beginning in 2020, brain MRI was conducted to identify CSVD burden and imaging markers, namely, lacun...

Aims/hypothesisImmunotherapies such as Teplizumab can preserve residual beta cell function in individuals with newly diagnosed type 1 diabetes (T1D), but treatment response is variable. Currently, no biomarker exists to identify individuals most likely to benefit from immunotherapy. We believe that baseline serum metabolomic profiles can distinguish individuals who respond to treatment from nonresponders and predict therapeutic response. MethodsBaseline serum samples from 41 individuals newly d...

BACKGROUNDSteno-occlusive diseases of the internal carotid artery (ICA) or middle cerebral artery (MCA) can lead to hemodynamic impairment, yet conventional imaging often fails to reflect metabolic dysfunction. Integrated positron emission tomography and magnetic resonance imaging (PET/MRI) allows simultaneous assessment of cerebral blood flow (CBF) and glucose metabolism. This study compared baseline perfusion and metabolic characteristics between patients receiving medical therapy or extracran...

Genomic surveillance of influenza viruses informs vaccine strain selection and evolutionary forecasting. Sequencing efforts vary widely across U.S. states, which raises concerns about spatial sampling bias. We evaluated how well 10,958 influenza virus genomes sampled by our group in Michigan captured the genetic diversity in 34,743 genomes circulating nationally from the 2021/22 through 2024/25 seasons. We defined seasonal hemagglutinin haplotypes and tracked their detection across states. A sma...

ObjectivesThe coronavirus disease 2019 (COVID-19) pandemic has necessitated the urgent investigation of effective long-term therapeutic agents. This study aimed to evaluate the definitive, long-term causal effect of N-acetylcysteine (NAC) treatment on patient-reported outcomes (PRO) in patients with COVID-19 from hospital admission to six months after discharge. DesignProspective, multi-center, randomized, double-blind, placebo-controlled trial (RCT). SettingFive COVID-19-designated hospitals,...

Hereditary ataxias are complicated neurological disorders with enormous genetic heterogeneity as well as the diverse genetic mechanism. Among different genetic mechanism, tandem nucleotide repeat expansion (TNRex) are the most common cause for genetic ataxias followed by single nucleotide variations in over 200 genes. The detection and the diagnosis of tandem nucleotide repeats in clinics and laboratories has been at large common in comparison with SNVs owing to the large number of the mutations...

BackgroundLong-term fasting is a promising strategy for improving human health and reducing cardiometabolic risk. Emerging evidence suggests that the gut microbiome may mediate many of these benefits, but the role of its viral component, dominated by bacteriophages, remains poorly understood. MethodsUsing shotgun metagenomic data from a single-arm, monocentric fasting intervention, this study profiled the gut virome (n=89 individuals, n=241 samples) before and after 9.8 days of fasting ([~]250 ...

Much remains unknown about the genetics of immune system changes during pregnancy. We used SNP data in a pregnancy cohort to genetically investigate 47 immune biomarkers at two timepoints, along with change between timepoints (delta). We identified 19 biomarkers with significant SNP-based heritability and 34 with genome-wide significant signals, demonstrating genetic regulation. The same biomarkers measured in early- and mid-pregnancy shared about half of significant associations across timepoin...

T-cell lymphomas are often histologically indistinguishable from benign T-cell infiltrates. Clonality testing is frequently required for diagnosis. It lacks the spatial context and is slow and expensive, relying on complex, multiplexed PCR reactions, interpreted by experienced scientists or pathologists. We previously published details of a pair of highly specific monoclonal antibodies against the two alternatively used, but very similar, T-cell receptor {beta} constant regions, TCR{beta}1 and T...