New papers on Other medicine
36 new papers on other medicine in the last 7 days, within Medicine & health. These are the 36 Pipette rates most worth reading, with the main result in the authors' own words.
The best of the week
Visualizing micro- nanoplastics in the human brain: Early evidence for roles in microvascular pathology
In summary our results demonstrate that synthetic polymers exhibit detectable fluorescence, and particles with similar spectral properties are visible in histologic sections.
PreprintBroad interestFirst report on Tropilaelaps mercedesae presence in Turkiye and insight into potential westward invasion corridors
In this study, the first record of the presence of Tropilaelaps mercedesae in Turkiye, in the Artvin province, in the north-east of the country is documented.
PreprintReal-world useMES: A Multi-Agent Evidence Synthesis System for Medical Decision-Making
Here we present MES, a multi-agent framework for source-grounded medical evidence synthesis.
PreprintReal-world useIdentification and evaluation of 41 risk loci for juvenile idiopathic arthritis informs precision medicine: mechanistic implications of DNA topology and an HLA-A*02:01-ERAP2 interaction
We identify 41 (14 novel) JIA risk regions and report a JIA polygenic risk score that also associates with age of onset.
PreprintReal-world useHigh-altitude exercise orchestrates a divergent immune landscape: cytotoxic suppression, humoral compensation, and neutrophil functional reprogramming
Collectively, high-altitude exercise was shown to induce coordinated immune reconfiguration characterized by cellular immunosuppression, selective humoral enhancement, and neutrophil-mediated tissue infiltration.
PreprintAuditing the Human LLM Autonomy Gap in Clinical Ethics: Development and Application of the Autonomy Index Across 50 Clinical Ethics Vignettes
Conclusions.In this deliberately selected 50-vignette set, trained reviewers assigned higher autonomy scores than the tested general-purpose language models on average, while the two sources ranked cases similarly.
PreprintReal-world useHigh-altitude exercise orchestrates a divergent immune landscape: cytotoxic suppression, humoral compensation, and neutrophil functional reprogramming.
Collectively, high-altitude exercise was shown to induce coordinated immune reconfiguration characterized by cellular immunosuppression, selective humoral enhancement, and neutrophil-mediated tissue infiltration.
PreprintMulti-population genome-wide association meta-analysis of acute and chronic pancreatitis
Overall, these results expand the known genetic architecture of pancreatitis and identify tractable therapeutic targets.
PreprintUnravelling the genetic basis of stuttering: GWAS meta-analysis highlights link with rare speech disorders
We identified suggestive genetic loci that converge with genes previously implicated in a rare, severe motor speech disorder (childhood apraxia of speech), and found that combining our data with the independent, previous GWAS of self-reported stuttering identified a genome-wide significant association.
PreprintValidating LLM judges for automated oversight of patient communication
These findings support LLM judges for scalable patient communication oversight while demonstrating the need for recalibration to patient-centered evaluation standards.
PreprintReal-world useEFFECTS OF SUBCHRONIC EXPOSURE TO POLYSTYRENE NANOPLASTICS ON THE MOUSE INTESTINE
These results demonstrate the potentially harmful effects of PS NPs on the intestinal system of mice.
PreprintCharacterization of Ataxia-linked MFN2 Variants Reveals a Lipid Droplet/Mitochondrial Axis Driving Ferroptosis
Here we find a novel correlation between MFN2 variants linked to ataxia and increased susceptibility to ferroptosis.
PreprintBold claims, read criticallyMyeloid infiltration and epidermal dysregulation characterize cutaneous photosensitivity in systemic lupus erythematosus
We demonstrate that the epidermis is dysregulated in lupus, where epidermal-dermal cross-talk in SLE is dominated by inflammatory keratinocytes after UV exposure in contrast with the healthy control epidermis.
Peer-reviewed journalRetinal hazards and glare from space mirrors
Unaided eye viewing of a mirror keeps the retinal risks low, both photochemical and thermal; however, disability glare may be unacceptably high, affecting awareness and response in critical visual operations.
PreprintReal-world useLLM-enabled Natural History Study Analysis to Support Rare Disease Research
ConclusionsThese findings illustrate how locally deployed open-source LLMs can extract structured NHS characteristics at scale, thus supporting their use to accelerate evidence synthesis in rare disease research.
PreprintReal-world useAquaporin-9 and aquaporin-10 but not aquaporin-3 confer susceptibility to dimethylarsinic acid genotoxicity in human cells
Aquaglyceroporins therefore discriminate among arsenic species, and AQP9 and AQP10 turn a weakly genotoxic metabolite into a substantially more genotoxic one.
PreprintLLM-enabled Natural History Study Analysis to Support Rare Disease Research
ConclusionsThese findings illustrate how locally deployed open-source LLMs can extract structured NHS characteristics at scale, thus supporting their use to accelerate evidence synthesis in rare disease research.
PreprintReal-world useAssessing the Performance of Artificial Intelligence on Anesthesiology In-Training Examinations and Applicability in Medical Education
DISCUSSIONCurrent-generation LLMs achieved approximately 95% accuracy, substantially improving on our prior results with earlier-generation models and placing both models within the highest band of the ITE normative framework, corresponding approximately to the 99th percentile across training levels.
PreprintReal-world useA FAIR layer for the INHERENT haemoglobinopathy patient registry
We designed and implemented a FAIRification workflow for the INHERENT haemoglobinopathy platform, an international genotype-phenotype registry, as part of the HemaFAIR project.
PreprintReal-world useLeveraging Large Language Models for Temporal PHI De-identification in Real-World Clinical Notes
This study proposes and evaluates an LLM-based framework for temporal PHI de-identification in real-world clinical notes.
PreprintReal-world useMulti-Ancestry Genome-wide Association Analyses Identify Shared and Specific Genetic Architecture in Mild and Moderate-to-Severe Asthma
ConclusionMild and moderate-to-severe asthma exhibit shared and distinct genetic architectures that support existing biologic targets and suggest novel therapeutic candidates.
PreprintActivating variants in PRKD2 in two families with Systemic sclerosis, and enrichment of rare variants in a sporadic series.
Together, these findings identify PRKD2 rare variants as potential genetic contributors to SSc, and PRKD2-mediated TCR signaling as a candidate disease-relevant and potentially targetable pathway.
PreprintOccupational stressors, perceived injustice, and pathways to pain interference and insomnia among workers with headache or low back pain
ConclusionsThe IEQ-SF-J showed supportive evidence for several measurement properties and occupied a theoretically coherent position in associations linking occupational stressors with pain interference, depressive symptoms, and insomnia among workers with headache or low back pain.
PreprintSleep Quality and Daytime Sleepiness in Patients with Chronic Obstructive Pulmonary Disease in a Tertiary Care Hospital: An Observational Study
CONCLUSIONSPoor sleep quality and excessive daytime sleepiness are highly prevalent among COPD patients and are significantly associated with disease severity and exacerbation frequency.
PreprintReal-world useAutonomous MTOR activation in COPD airway epithelium impairs resolution through persistent mucus cell metaplasia and lysosome dysfunction
Persistent MTOR signaling is a molecular driver that contributes to persistent MCM.
PreprintTracing the Evolution of Research on Breaking Bad News: A Global Analysis of Publications
ConclusionBBN research has evolved into a mature, interdisciplinary field with increasing emphasis on patient-centered communication.
PreprintVCP is a critical component for TDP-43 disaggregase activity in skeletal muscle
Across multiple model systems we found that VCP disease mutations or inhibition causes a reduced capacity to clear insoluble TDP-43, suggesting a VCP loss of function in patients with VCP-related MSP.
PreprintSleep Quality and Daytime Sleepiness in Patients with Chronic Obstructive Pulmonary Disease in a Tertiary Care Hospital: An Observational Study
CONCLUSIONSPoor sleep quality and excessive daytime sleepiness are highly prevalent among COPD patients and are significantly associated with disease severity and exacerbation frequency.
PreprintReal-world useNetwork-Based Analysis of Fibromyalgia-Associated Genes Identifies Candidate Molecular Targets and Enriched Biological Pathways
ConclusionThis study identified TNF, IL6 and other highly connected genes, along with TLR signaling as an enriched pathway in the fibromyalgia-associated gene network.
PreprintGenetically Predicted Blood DNA Methylation Reveals Putative Regulatory Signals Associated with ALS Risk
These findings add a regulatory dimension to ALS genetic studies by prioritizing CpG sites, genes, and genomic regions through which inherited variation may influence disease susceptibility.
PreprintNetwork-Based Analysis of Fibromyalgia-Associated Genes Identifies Candidate Molecular Targets and Enriched Biological Pathways
ConclusionThis study identified TNF, IL6 and other highly connected genes, along with TLR signaling as an enriched pathway in the fibromyalgia-associated gene network.
PreprintGenetically Predicted Blood DNA Methylation Reveals Putative Regulatory Signals Associated with ALS Risk
These findings add a regulatory dimension to ALS genetic studies by prioritizing CpG sites, genes, and genomic regions through which inherited variation may influence disease susceptibility.
PreprintSERPINA12 Splice Site Variant in Tunisian Familial Psoriasis Vulgaris: Segregation to Inheritance
ConclusionThis integrative WES-based approach identifies a PV associated mutation and suggests a new pathogenic mechanism involving the vaspin/KLK7 axis.
PreprintBold claims, read criticallyReal-world useTranscriptomic and Machine-Learning Prioritization of OCEL1 in Low Bone Mineral Density With Multivariable cis-MR
ConclusionConvergent transcriptomic evidence prioritized OCEL1, whose conditional genetic-expression component was positively associated with heel eBMD after local shared cis regulation was modeled.
PreprintTranscriptomic and Machine-Learning Prioritization of OCEL1 in Low Bone Mineral Density With Multivariable cis-MR
ConclusionConvergent transcriptomic evidence prioritized OCEL1, whose conditional genetic-expression component was positively associated with heel eBMD after local shared cis regulation was modeled.
PreprintHow does adversity in childhood relate to pain in adulthood? Findings across four experimental tests of pain modulation
These data suggest a subtle relationship between childhood adversity and the spatial extent of experimentally induced secondary hyperalgesia.
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