Results 141 to 150 of about 2,219,611 (304)

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart   +336 more
wiley   +1 more source

Infective endocarditis: Awareness, knowledge gaps and behaviours amongst adults with congenital heart disease

open access: yesInternational Journal of Cardiology Congenital Heart Disease
Background: Adults with congenital heart disease (ACHD) have an increased risk of infective endocarditis (IE), associated with significant morbidity and mortality.
S. Haider   +5 more
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Prognosis and Treatment With Phosphodiesterase 5 Inhibitors in Combined Post‐ and Precapillary Pulmonary Hypertension: A Propensity Score‐Matched Analysis From the Hellenic Pulmonary Hypertension Registry

open access: yesPulmonary Circulation
Combined post‐ and precapillary pulmonary hypertension (CpcPH) comprises the most severe form of postcapillary PH. A severe precapillary component (pulmonary vascular resistance [PVR] > 5 WU) is critical for therapeutic decisions.
Georgios E. Papadopoulos   +15 more
doaj   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Changes in hemodynamics of pulmonary artery using Flowire in a canine model of acute pulmonary thromboembolism

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study investigated changes in pulmonary artery hemodynamics using a Flowire catheter and evaluated the accuracy of Doppler echocardiography in dogs with acute pulmonary thromboembolism (PTE). Ten healthy beagles were anesthetized, and acute pulmonary hypertension (PH) was induced by injecting 300‐μm dextran microspheres.
Tomohiko Yoshida   +3 more
wiley   +1 more source

Updated clinical classification of pulmonary hypertension.

open access: yesJournal of the American College of Cardiology, 2009
G. Simonneau   +15 more
semanticscholar   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

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