Results 31 to 40 of about 93,463 (256)

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Journal of Cardiovascular Development and Disease, 2022
(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in ...
Dominik Sebastian Westphal, Kathrin Pollmann, Christoph Marschall, Annette Wacker-Gussmann, Renate Oberhoffer-Fritz, Karl-Ludwig Laugwitz, Peter Ewert, Cordula Maria Wolf   +7 more
doaj   +1 more source

Large Language Model‐Based Chatbots in Higher Education

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci, Merve Eryilmaz, Ail K. Yetisen, Savas Tasoglu, Aydogan Ozcan   +4 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Ascending aortic dilation and aortic regurgitation — a neglected problem among single-ventricle patients after Fontan palliation

Cardiology Journal
BACKGROUND: The Fontan procedure revolutionized the management of univentricular heart physiology but is associated with long-term complications. Although pulmonary vascular disease, atrioventricular valve regurgitation, and ventricular dysfunction are ...
Małgorzata Kowalczyk, Ilona Kowalik, Mirosław Kowalski, Piotr Hoffman   +3 more
doaj   +1 more source

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

Bridging clinical care and lived experience: early implementation of longitudinal health-related quality of life monitoring in congenital heart disease

Frontiers in Pediatrics
BackgroundCongenital heart defects (CHD) are the most common congenital malformations, and, although survival rates now exceed 90%, children remain at risk for long-term psychomotor, cognitive, and psychosocial difficulties.
Jana Willems, Philipp A. Müller, Anna Erbers, Franziska Renninger, Alina Stricker, Vera König, Rouven Kubicki, Hannah E. Kappler, Alexej Bobrowski, Brigitte Stiller, Christoph Zürn   +10 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Quality of life in children with infrequent congenital heart defects: cohort study with one-year of follow-up

Health and Quality of Life Outcomes, 2020
Background The evidence regarding patient related outcomes in children with infrequent congenital heart defects (I-CHD) is very limited. We sought to measure quality of life (QoL) in children with I-CHD, and secondarily, to describe QoL changes after one-
Karen Moreno-Medina, Magally Barrera-Castañeda, Catalina Vargas-Acevedo, Alberto E. García-Torres, Miguel Ronderos, Manuel Huertas-Quiñones, Silvana Cabrera, María Teresa Domínguez, Nestor Sandoval Reyes, Rodolfo J. Dennis   +9 more
doaj   +1 more source

Utility of deep learning networks for the generation of artificial cardiac magnetic resonance images in congenital heart disease

BMC Medical Imaging, 2020
Background Deep learning algorithms are increasingly used for automatic medical imaging analysis and cardiac chamber segmentation. Especially in congenital heart disease, obtaining a sufficient number of training images and data anonymity issues remain ...
Gerhard-Paul Diller, Julius Vahle, Robert Radke, Maria Luisa Benesch Vidal, Alicia Jeanette Fischer, Ulrike M. M. Bauer, Samir Sarikouch, Felix Berger, Philipp Beerbaum, Helmut Baumgartner, Stefan Orwat, for the German Competence Network for Congenital Heart Defects Investigators   +11 more
doaj   +1 more source

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

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, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source