Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555583 | PMC |
http://dx.doi.org/10.5935/abc.20190033 | DOI Listing |
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFBMC Med Educ
December 2024
Graduate Program in Child and Adolescent Health, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
Background: Effective communication with patients and their families is a fundamental skill for medical students to cultivate during their undergraduate training. However, communicating with pediatric patients presents unique challenges. This study investigated the perceptions, attitudes, and confidence levels of undergraduate medical students regarding communication skills in pediatrics.
View Article and Find Full Text PDFBMC Womens Health
December 2024
Department of Physical Medicine and Rehabilitation,, Montefiore Medical Center, Bronx, NY, USA.
Background: Endometriosis, a condition that significantly impacts the quality of life for affected women, manifests with a spectrum of symptoms ranging from mild discomfort to severe pelvic pain, dysmenorrhea, dyspareunia, and infertility. A previous single-center study suggested an elevated prevalence of endometriosis in Jordan, prompting the need for larger studies to confirm these findings.
Methods: We conducted a cross-sectional study involving a sample of 866 women who underwent various laparoscopic procedures for different indications at the Department of Obstetrics and Gynecology at Jordan University Hospital and Al-Karak Governmental Hospital, two tertiary referral hospitals in Jordan between January 2015 and March 2023.
Australas Emerg Care
December 2024
Graduate School of Health, Faculty of Health, University of Technology, Sydney, NSW, Australia.
Background: Effective staff-to-staff and patient-provider communication in the Emergency Department (ED) is essential for safe, quality care. Routine wearing of Personal-Protective-Equipment (PPE) has introduced new challenges to communication. We aimed to understand the perspectives of ED staff about communicating while wearing PPE, and to identify factors contributing to communication success, breakdown, and repair.
View Article and Find Full Text PDFBr J Ophthalmol
December 2024
Department of Ophthalmology and Medical Research Center, Oulu University Hospital; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Background/aims: The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).
Methods: In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!