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American 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

Non-alcoholic fatty liver disease is associated with an increased incidence of atrial fibrillation in patients with type 2 diabetes

, 2013
BackgroundThe relationship between non-alcoholic fatty liver disease (NAFLD) and atrial fibrillation (AF) in type 2 diabetes is currently unknown. We examined the relationship between NAFLD and risk of incident AF in people with type 2 diabetes.Methods ...
Zoppini Giacomo +39 more
core +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner +7 more
wiley +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source

Echocardiographic Correlation between Right Ventricular Function and Left Atrial Volume

Arquivos Brasileiros de Cardiologia
Background: Few reports exist on the relationship of the left ventricular diastolic dysfunction (LVDD) with its most important features including enlargement of the left atrium and left ventricular hypertrophy (LVH), and with the right ventricular (RV ...
Liz Andréa Villela Baroncini +5 more
doaj +1 more source

Quantification of left atrial volumes and left atrial function.

, 2016
Cine steady state free precession images are shown in the two- and four-chamber views at the point of maximum left atrial volume, before atrial contraction, and minimum left atrial volume. Length = Yellow, Area = Blue.
Raymond Y. Kwong (3331890) +9 more
core +1 more source

Animal models for investigating post‐stroke cognitive impairment: A neurovascular trafficking perspective

Animal Models and Experimental Medicine, EarlyView.
Animal models enable mechanistic testing of how ischemic injury disrupts neurovascular trafficking and drives cognitive vulnerability after stroke. Complementary models capture distinct vascular, cellular, white matter, and cognitive features of PSCI.
Pratchaya Kaewkaen
wiley +1 more source

Spearman correlation coefficients in RELAX subjects for left atrial volumes or function and indices of hemodynamic stress, left ventricular remodeling, diastolic function, and gas exchange.

, 2016
Spearman correlation coefficients in RELAX subjects for left atrial volumes or function and indices of hemodynamic stress, left ventricular remodeling, diastolic function, and gas exchange.
Raymond Y. Kwong (3331890) +9 more
core +1 more source

Mechanical Thrombectomy Versus Medical Management for Large Ischemic Core Stroke Identified before Inter‐Hospital Transfer: A Post Hoc Analysis of the LASTE Trial

Annals of Neurology, EarlyView.
Objective This study assessed the efficacy of thrombectomy in acute ischemic stroke because of large‐vessel occlusion (AIS‐LVO) initially admitted to primary stroke centers (PSC) and subsequently transferred to a comprehensive stroke center (CSC), with a large ischemic core identified before transfer.
Pierre Seners +258 more
wiley +1 more source

Relationship of left atrial appendage function to left ventricular function.

Indian heart journal, 2004
The study was conducted to evaluate the relationship of left atrial appendage function to left ventricular function and to analyze, if left ventricular dysfunction predisposed to left atrial appendage thrombus formation even in the presence of sinus rhythm.The study was conducted in 78 patients with a mean age of 53+/-8.5 years, all of whom were in ...
Asha, Mahilmaran +3 more
openaire +1 more source

atrial fibrillation
echocardiography
left atrial strain

atrial function
left atrial volume
heart failure

medicine