Results 121 to 130 of about 104,850 (291)

Obstructive Hypertrophic Cardiomyopathy and Aortic Stenosis With High Surgical Risk

open access: yesJACC: Case Reports
Background: Treatment and accurate assessment of aortic valve stenosis (AS) with concomitant obstructive hypertrophic cardiomyopathy (HCM) prove challenging.
Omar M. Abdelfattah, MD   +3 more
doaj   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao   +13 more
wiley   +1 more source

Physical exercise and cardiac death due to pneumonia in male teenagers [Iznenadna smrt zbog upalće pluća za vrijeme tjelovježbe u trojice mladića] [PDF]

open access: yes, 2009
From 1998 to 2008 we noticed 3 cardiac deaths in male teenagers aged 18-19 during or after physical exercise. The first was working at the site recreatively, the second was engaged in soccer recreatively and the third was professional soccer player.
Duraković, Lejla   +3 more
core  

Atrial cardiomyopathy

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala   +1 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Prostate Cancer, Genetic Susceptibility, and Risk of Chronic Non‐Urological Complications

open access: yesThe Prostate, EarlyView.
ABSTRACT Background Chronic nonurological complications are common among prostate cancer (PCa) survivors; however, their spectrum, magnitude, and genetic contribution remain poorly characterized. Methods We evaluated 15 commonly reported nonurological complications and tested their associations with exposure to PCa and disease‐specific polygenic risk ...
Brian T. Helfand   +14 more
wiley   +1 more source

Clinical reasoning in feline non‐ambulatory tetraparesis or tetraplegia: Which combination of clinical information is useful?

open access: yesVeterinary Record, EarlyView.
Abstract Background Non‐ambulatory tetraparesis or tetraplegia in cats may constitute a diagnostic challenge for general practitioners. Therefore, this study aimed to evaluate if clinical variables from signalment, history, clinical examination and basic ancillary tests are associated with underlying diagnoses in cats with non‐ambulatory tetraparesis ...
Guido Bertoldi, Steven De Decker
wiley   +1 more source

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

open access: yesIntegrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang   +5 more
wiley   +1 more source

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