Results 181 to 190 of about 26,142,130 (292)

Corrigendum to "Differences in mortality by donor sex and age in heart transplantation: An individual patient data meta-analysis" [JHLT Open 11 (2026) 100466]. [PDF]

open access: yesJHLT Open
Sugianto RI   +10 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

Virtual reality simulation for tracheostomy emergencies: a randomized educational intervention. [PDF]

open access: yesATS Sch
Talan JW   +9 more
europepmc   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae   +52 more
wiley   +1 more source

Regional ventricular enlargement as an in vivo biomarker of cumulative biomechanical neurodegeneration in former American football players. [PDF]

open access: yesAlzheimers Dement
Szekely B   +15 more
europepmc   +1 more source

A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective To compare the discriminatory performance of the Risk Analysis Index (RAI) and modified Frailty Index‐5 (mFI‐5) in predicting postoperative outcomes following endoscopic sinus surgery (ESS). Study Design Retrospective cohort study. Methods Adult ESS patients were identified from the ACS‐NSQIP database (2005–2020).
Akshay Warrier   +6 more
wiley   +1 more source

Changes in young children's behavior following COVID-19 pandemic onset: A tale of three cities. [PDF]

open access: yesChild Dev
Martin A   +9 more
europepmc   +1 more source

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