Results 141 to 150 of about 928,903 (364)

Severe aortic regurgitation due to endocarditis in a horse [PDF]

open access: yes, 2011
A 4-year-old Belgian Warmblood mare was presented because of fever, exercise intolerance, a loud diastolic cardiac murmur and a remarkable bounding pulsation that was palpable all over the body.
Afonso, Tiago   +4 more
core  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Evaluating the Relationship Between Gastrointestinal Bleeding and Valvular Heart Disease: A Systematic Review of Clinical Studies

open access: yesGastrointestinal Disorders
Background: Gastrointestinal angiodysplasia is a significant vascular anomaly characterized by dilated, tortuous blood vessels in the gastrointestinal tract.
Jacob J. Gries   +5 more
doaj   +1 more source

Study of the correlation between bicuspid aortic valve and the development of aortic dissection [PDF]

open access: yes, 2017
La disección aórtica (AD) es la condición letal más comúnmente diagnosticada de la arteria aorta y consiste en el redireccionamiento del flujo sanguíneo desde el lumen de la aorta hasta la media de la pared de la aorta a través de una pequeña fisura en ...
Ruiz Jiménez, Elvira
core  

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

The Effects of Smoking on the Calcification of the Aortic Valve [PDF]

open access: yes, 2016
Calcific Aortic Valve Disease is responsible for approximately 28,000 deaths annually and the complete mechanism is not completely understood. The disease is known to be effected by an inflammatory response, osteogenic response and an oxidative stress ...
Pendergraft, Brittany
core   +2 more sources

Visualizing Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm   +2 more
wiley   +1 more source

Systolic ejection murmurs and the left ventricular outflow tract in boxer dogs [PDF]

open access: yes, 2007
Turbulence of various genesis in the left ventricular outflow tract (LVOT) causes systolic ejection murmurs. The prevalence of murmurs in adult boxer dogs is 50-80%, the majority of which are of low intensity.
Höglund, Katja
core  

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