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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFSpecialized pericyte subtypes in the pulmonary capillaries.
EMBO J
January 2025
Division of Pulmonary Medicine, Boston Children's Hospital, Boston, MA, 02115, USA.
Pericytes are essential for capillary stability and homeostasis, with impaired pericyte function linked to diseases like pulmonary arterial hypertension. Investigating pericyte biology has been challenging due to the lack of specific markers, making it difficult to distinguish pericytes from other stromal cells. Using bioinformatic analysis and RNAscope, we identified Higd1b as a unique gene marker for pericytes and subsequently generated a knock-in mouse line, Higd1b-CreERT2, that accurately labels pericytes in the lung and heart.
View Article and Find Full Text PDFDeveloping a Research Center for Artificial Intelligence in Medicine.
Mayo Clin Proc Digit Health
December 2024
Department Radiology, Stanford University, Stanford, CA.
Artificial intelligence (AI) and machine learning (ML) are driving innovation in biosciences and are already affecting key elements of medical scholarship and clinical care. Many schools of medicine are capitalizing on the promise of these new technologies by establishing academic units to catalyze and grow research and innovation in AI/ML. At Stanford University, we have developed a successful model for an AI/ML research center with support from academic leaders, clinical departments, extramural grants, and industry partners.
View Article and Find Full Text PDFAssociation of life's essential 8 with prevalence and all-cause mortality of chronic kidney disease among US adults: Results from the National Health and Nutrition Examination Survey (2015-2018).
J Transl Int Med
December 2024
Department of Military Health Statistics, Naval Medical University, Shanghai 200433, China.
Background And Objectives: The association between chronic kidney disease (CKD) and cardiovascular disease has been previously evaluated. This study aimed to evaluate the association between the American Heart Association's Life's Essential 8 (LE8) and the prevalence and all-cause mortality of CKD in a nationally representative population of adults in the US.
Methods: This retrospective analysis included participants from the National Health and Nutrition Examination Survey spanning 2015-2018.
Recommended Occupational Exposure Limits for GMA Using Benchmark Dose and Bayesian Model Averaging.
China CDC Wkly
December 2024
Chinese Center for Disease Control and Prevention, Beijing, China.
Introduction: Glycidyl methacrylate (GMA) is a widely used industrial polymerization material. Current occupational exposure limits (OELs) for GMA in China show significant disparities compared to those established by international regulatory bodies, including the United States, the European Union, and Japan. A comprehensive revision of GMA exposure limits is crucial for ensuring optimal worker protection.
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