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Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
Loading articles data…
Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
4 articles
Newest firstBackgroundIdentifying rare disease (RD) patients in electronic health records (EHR) is challenging, as more than 10,000 rare diseases are not typically captured by clinical coding systems. This limits the assessment of clinical outcomes for RD patients. This study introduces a semiautomated approach to map RDs to appropriate codes, that is applicable across various EHR systems. By improving RD patient identificati…
Open article record in new tab ↗BackgroundAddressing inequities and health disparities for medically underserved populations (MUPs) is critical, as they already face systemic bias and barriers, such as historical mistrust of healthcare systems. To achieve health equity, we need systematic approaches to measuring, quantifying, and reporting diversity, equity, inclusion, and accessibility (DEIA) metrics. MethodsThe objective of the study was to an…
Hermansky-Pudlak syndrome (HPS) is a group of rare genetic disorders, with several subtypes leading to fatal adult-onset pulmonary fibrosis (PF) and no effective treatment. Circulating biomarkers detecting early PF have not been identified. We investigated whether endocannabinoids could serve as blood biomarkers of PF in HPS. We measured endocannabinoids in the serum of HPS, IPF, and healthy human subjects and in…
Open article record in new tab ↗Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder which, in its most common and severe form, HPS-1, leads to fatal adult-onset pulmonary fibrosis (PF) with no effective treatment. We evaluated the role of the endocannabinoid/CB1 R system and inducible nitric oxide synthase (iNOS) for dual-target therapeutic strategy using human bronchoalveolar lavage fluid (BALF), lung samples from patients with HPS and c…