Results 41 to 50 of about 18,995 (178)
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American 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
American 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
Indian Heart Journal, 2017 Background: Isolated coronary artery anomalies are usually clinically silent and mostly detected incidentally during angiography or autopsy. However, few of them may be implicated in cases of sudden cardiac death even in the absence of additional heart ...
Akhilesh Rao +3 more
doaj +1 more source
Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
British 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
Egyptian Pediatric Association GazetteBackground Congenital coronary artery anomalies (CAA) represent clinically important abnormalities due to their association with myocardial ischemia, arrhythmias, heart failure, and sudden cardiac death in children.
Fatma-AlZahraa Mostafa +7 more
doaj +1 more source
Intercoronary fistula: Rarest of rare coronary anomaly
Journal of the Practice of Cardiovascular Sciences, 2019 Coronary artery fistulas are rare but fascinating anomalies. It is defined as an abnormal direct vascular connection from coronary artery to a cardiac chamber or major central blood vessel without an intervening capillary bed. Among all coronary fistulas,
Sunil Nichaldas Gurmukhani +5 more
doaj +1 more source
Clinical Anatomy, EarlyView.ABSTRACT Limited access to cadavers necessitates the availability of digital resources for anatomy education. Smartphone‐based photogrammetry offers a promising solution for creating three‐dimensional (3D) and augmented reality (AR) models. This study compared two mobile photogrammetry applications (Qlone and Polycam) that have been used in modern ...
Sarita Phukwantong +3 more
wiley +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective This study conduct viral genome sequencing among severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)‐infected pregnant and postpartum individuals, and investigates disease severity and maternal and perinatal outcomes considering variant of concern (VOC) and non‐VOC groups.
Guilherme M. Nobrega +27 more
wiley +1 more source
Right coronary artery anomaly [PDF]
Autopsy Case Reports, 2021 Kleio Fragkouli, Theodore Vougiouklakis
openaire +3 more sources
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective To define and demonstrate a step‐by‐step surgical anatomical approach to pudendal nerve dissection using female cadavers, focusing on the identification of safe roadmap and key neurovascular structures to optimize pelvic nerve surgery.
Merve Didem Eşkin Tanrıverdi +4 more
wiley +1 more source