Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534002 | PMC |
| http://dx.doi.org/10.1002/mdc3.13038 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Clinical Characteristics and Disease Burden of Wheat Allergy Dependent on Augmentation Factors in Recreationally Active and Trained Individuals.
Scand J Med Sci Sports
September 2025
Department of Dermatology and Allergy Biederstein, School of Medicine and Health, TUM University Hospital Rechts der Isar, Munich, Germany.
In wheat allergy dependent on augmentation factors (WALDA), allergic reactions occur when wheat ingestion is combined with exercise or rarely other augmentation factors. We analyzed clinical characteristics and disease burden in recreationally active and trained individuals with WALDA diagnosed by oral challenge test. Clinical characteristics, serological data, and quality of life (QOL) questionnaires were analyzed and completed with follow-up interviews.
View Article and Find Full Text PDFClinical consequences of smartwatch implementation in a cardiology outpatient clinic.
Dan Med J
August 2025
Department of Cardiology, Copenhagen University Hospital - Herlev and Gentofte Hospital.
Introduction: Long-term cardiac monitoring has become more accessible with the advent of consumer-oriented wearable devices. Smartwatches (SWs) hold promise for extended rhythm monitoring owing to their availability and direct electronic health record (EHR) integration. We studied the clinical consequences of SW implementation in patients with palpitations.
View Article and Find Full Text PDFAdult onset cryopyrin-associated periodic syndrome due to germline missense mutation in in a previously healthy middle-aged woman.
Front Immunol
September 2025
Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Background: Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by a gain-of-function mutation in the gene, which regulates inflammasome-mediated interleukin-1β (IL-1β) production. This leads to recurrent episodes of fever, rash, and arthritis, typically beginning in childhood.
Objective: To demonstrate the role of a missense mutation, c.
Vitamin C Does Not Affect Platelet Counts in Patients With Sepsis: A Post hoc Analysis of the Lessening Organ Dysfunction With Vitamin C Randomized Trial.
Crit Care Explor
September 2025
Interdepartmental Division of Critical Care Medicine, University of Toronto, Toronto, ON, Canada.
Objective: Vitamin C has been linked to alterations in platelet count and aggregation behavior. Given recent findings suggesting an association between vitamin C and adverse outcomes in patients with septic shock, we aimed to investigate whether vitamin C influences mortality in septic patients through its impact on platelets.
Design: Post hoc analysis of the Lessening Organ Dysfunction With Vitamin C (LOVIT) randomized trial (clinicaltrials.