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Critical Care Ultrasonography and Its Application for COVID-19 [PDF]

open access: yes, 2020
Ultrasound has developed as an invaluable tool in diagnosis and proper management in the intensive care unit (ICU). Application of critical care ultrasonography is quite distinct from the routine comprehensive diagnostic ultrasound exam, because the ...
Chong, MD, Weelic   +4 more
core   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography: An Update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging.

open access: yesEuropean Heart Journal-Cardiovascular Imaging, 2016
S. Nagueh   +13 more
semanticscholar   +2 more sources

Ischaemia as a cause of LVOT gradient reversal in HCM

open access: yesEcho Research and Practice, 2017
We present the case of a previously fit 84-year-old female with long-standing systemic hypertension and the echo phenotype of hypertrophic cardiomyopathy (HCM) – asymmetrical septal hypertrophy, significant resting left ventricular (LV) outflow ...
Camelia Demetrescu   +2 more
doaj   +1 more source

Artificial intelligence and echocardiography

open access: yesEcho Research and Practice, 2018
Echocardiography plays a crucial role in the diagnosis and management of cardiovascular disease. However, interpretation remains largely reliant on the subjective expertise of the operator.
M. Alsharqi   +5 more
semanticscholar   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Giant left ventricular pseudoaneurysm: a rare acute complication of radiofrequency catheter ablation for premature ventricular contraction

open access: yesJournal of Cardiothoracic Surgery, 2019
Background Radiofrequency catheter ablation is approved effective therapy for premature ventricular contraction. However, the rare but serious complication such as pseudoaneurysm should be given more attention. It is life-threatening due to the high risk
Hongxia Wang   +4 more
doaj   +1 more source

Echocardiographic assessment of pulmonary hypertension: a guideline protocol from the British Society of Echocardiography

open access: yesEcho Research and Practice, 2018
Pulmonary hypertension is defined as a mean arterial pressure of ≥25 mmHg as confirmed on right heart catheterisation. Traditionally, the pulmonary arterial systolic pressure has been estimated on echo by utilising the simplified Bernoulli equation from ...
D. Augustine   +19 more
semanticscholar   +1 more source

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