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Utility of word embeddings from large language models in medical diagnosis.
J Am Med Inform Assoc
January 2025
Kennewick, WA 99338, United States.
Objective: This study evaluates the utility of word embeddings, generated by large language models (LLMs), for medical diagnosis by comparing the semantic proximity of symptoms to their eponymic disease embedding ("eponymic condition") and the mean of all symptom embeddings associated with a disease ("ensemble mean").
Materials And Methods: Symptom data for 5 diagnostically challenging pediatric diseases-CHARGE syndrome, Cowden disease, POEMS syndrome, Rheumatic fever, and Tuberous sclerosis-were collected from PubMed. Using the Ada-002 embedding model, disease names and symptoms were translated into vector representations in a high-dimensional space.
Anaphylaxis in pediatric patients: single-center study in a private hospital.
Allergol Immunopathol (Madr)
January 2025
Division of Allergy and Clinical Immunology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
This study aimed to characterize the profile of probable anaphylaxis cases treated at a private pediatric hospital emergency department in São Paulo. It investigated triggering factors, the presence of cofactors, treatments administered, and follow-up for these cases through interviews with the patients' families. A single-center cross-sectional study analyzed medical records of children and adolescents treated between 2016 and 2020.
View Article and Find Full Text PDFAdaptive ımmune system evaluation in familial mediterranean fever: clinical and ımmunological analysis.
Allergol Immunopathol (Madr)
January 2025
Faculty of Medicine, Department of Pediatric Allergy and Immunology, Ondokuz Mayıs University, Samsun, Turkey.
Background: Familial Mediterranean Fever is a common genetic autoinflammatory disease prevalent in the Mediterranean region. The clinical course of the disease is characterized by fever and serositis attacks. While defects in the innate immune system are known to play a role in the pathogenesis of the disease, the impact of the adaptive immune system remains unclear.
View Article and Find Full Text PDFGenetic Ancestry-Based Differences in Biomarker-Based Eligibility for Precision Oncology Therapies.
JAMA Oncol
January 2025
Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.
Importance: Although differences in the prevalence of key cancer-specific somatic mutations as a function of genetic ancestry among patients with cancer has been well-established, few studies have addressed the practical clinical implications of these differences for the growing number of biomarker-driven treatments.
Objective: To determine if the approval of precision oncology therapies has benefited patients with cancer from various ancestral backgrounds equally over time.
Design, Setting, And Participants: A retrospective analysis of samples from patients with solid cancers who underwent clinical sequencing using the integrated mutation profiling of actionable cancer targets (MSK-IMPACT) assay between January 2014 and December 2022 was carried out.
Inclisiran, Reasons for a Novel Agent in a Crowded Therapeutic Field.
Curr Atheroscler Rep
January 2025
Unitat de Medicina Vascular I Metabolismo, Hospital Universitario Sant Joan, Universitat Rovira I Virgili, IISPV, CIBERDEM, Reus, Spain.
Purpose Of The Review: A significant number of patients fail to achieve target LDL cholesterol (LDL-C) levels. This review aims to explore why inclisiran, a novel class of LLT, should be considered a valuable addition to the current treatment options.
Recent Findings: Inclisiran is a small interfering RNA (siRNA) that targets PCSK9 synthesis specifically in the hepatocytes.
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