Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
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]
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
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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
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]
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]
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
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]
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
A rare coronary anomaly: the single left coronary artery with coronary artery fistula draining into the right ventricular outflow tract [PDF]
Jie Wang +4 more
openalex +1 more source
Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
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

