Results 191 to 200 of about 34,529 (267)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Culture‐Negative Infective Endocarditis Presumed due to Brucella Causing Rapid Native Aortic Valve Destruction in a Young Adult: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Culture‐negative endocarditis with features consistent with Brucella can rapidly destroy a normal aortic valve in young adults. 2023 Duke‐ISCVID criteria (clinical/imaging findings plus histopathology), supported by serology and occupational exposure enabled urgent combined antimicrobial‐surgical management without culture confirmation ...
Baraa Nassar   +5 more
wiley   +1 more source

The Expanding Therapeutic Armamentarium for Mitral Regurgitation: Surgical and Transcatheter Interventions. [PDF]

open access: yesBiomedicines
Kalompatsou A   +14 more
europepmc   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 175, Issue 1, Page 26-47, October 2026.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto   +8 more
wiley   +1 more source

Association Between HIV Infection Duration and Left Ventricular Concentric Remodeling and Myocardial Fibrosis: A Cross‐Sectional Study Using Cardiac MRI

open access: yesJournal of Magnetic Resonance Imaging, Volume 64, Issue 4, Page 1037-1049, October 2026.
ABSTRACT Background Antiretroviral therapy has transformed HIV into a chronic condition, yet cardiac injury remains a major issue. Purpose To assess the ability of cardiac MR imaging markers to predict cardiac injury and disease progression in HIV‐infected individuals. Study Type Prospective.
Chunyan Deng   +5 more
wiley   +1 more source

Permanent Cardiac Pacing in Children: A 30‐Year Follow‐Up Retrospective Study in a Single Pediatric Asian Center

open access: yesJournal of Arrhythmia, Volume 42, Issue 5, October 2026.
This 30‐year retrospective study of pediatric permanent pacing found acceptable long‐term device complication rates, with epicardial leads used predominantly. Pacing‐induced cardiomyopathy occurred only in children with congenital heart disease, highlighting the need for individualized pacing strategies in this cohort and long‐term echocardiographic ...
Jiahui Charmaine Chan   +12 more
wiley   +1 more source

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