Results 81 to 90 of about 37,798 (303)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Diagnostic accuracy of Doppler ultrasound technique of the penile arteries in correlation to selective arteriography [PDF]

open access: yes, 1988
In 63% of 265 patients with erectile dysfunction a relevant arterial inflow disturbance was found by Doppler ultrasound examination. Correlation between Doppler and arteriography in 58 patients showed an accuracy of 95% in detecting penile arteries and ...
AW Zorgniotti   +27 more
core   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

Surgical revascularization of a rare type IV dual left anterior descending artery—a case report

open access: yesThe Cardiothoracic Surgeon, 2022
Background Type IV dual left anterior descending artery (LAD) is a rare congenital coronary anomaly. Though benign with most of the patients being asymptomatic, knowledge of its existence and identification during coronary angiography is important during
Bharathguru Nedumaran   +4 more
doaj   +1 more source

Cardiac arrest in a soccer player: a unique case of anomalous coronary origin detected by 16-row multislice computed tomography coronary angiography [PDF]

open access: yes, 2018
Anomalous origin of the coronary arteries may be present in otherwise normal subjects without clinical significance, but can also be the cause of myocardial ischemia and sudden death in both adults and teenagers.
Boehm, Thomas   +4 more
core  

Arterial anatomy and arteriographic diagnosis of arteriogenic impotence [PDF]

open access: yes, 1988
One hundred twenty-six bilateral selective arteriographic examinations of the iliopudendal vascular tree were performed after comprehensive multidisciplinary evaluation in patients with chronic erectile dysfunction.
Bähren, Wolfgang   +4 more
core   +1 more source

From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy

open access: yesThe Anatomical Record, EarlyView.
Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza   +5 more
wiley   +1 more source

Is arrhythmogenic right ventricular cardiomyopathy a paediatric problem too? [PDF]

open access: yes, 2001
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that is often familial, characterized by arrhythmias of right ventricular origin, due to transmural fatty or fibrofatty replacement of atrophic myocardium. ARVC is usually
Basso, Cristina   +4 more
core  

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay   +5 more
wiley   +1 more source

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