Results 91 to 100 of about 107,561 (313)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Staffing, activities, and infrastructure in 96 specialised adult congenital heart disease clinics in Europe.

, 2019
BACKGROUND: Clinical guidelines emphasise the need for specialised adult congenital heart disease (ACHD) programmes. In 2014, the working group on Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC) published recommendations on ...
Moons, Philip, Roos-Hesselink, Jolien, Gabriel, Harald, Thomet, C, Gallego, Pastora, Webb, G, Gallego, P, Schwerzmann, Markus, Chessa, M, Thomet, Corina, ESC Working Group on Grown-up Congenital Heart Disease, Moons, P, Budts, W, Budts, Werner, Swan, Lorna, De Backer, Julie, Working Group on Grown-up Congenital Heart Disease, ESC, Giamberti, A, Diller, Gerhard, Roos - Hesselink, Jolien, Roos-Hesselink, J, Webb, Gary, Schwerzmann, M, Giamberti, Alessandro, Eicken, Andreas, Chessa, Massimo, Eicken, A, Diller, G, Swan, L, Backer, J, Gabriel, H   +30 more
core   +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

Design and Harmonization Approach for the Multi-Institutional Neurocognitive Discovery Study (MINDS) of Adult Congenital Heart Disease (ACHD) Neuroimaging Ancillary Study: A Technical Note

, 2023
Dramatic advances in the management of congenital heart disease (CHD) have improved survival to adulthood from less than 10% in the 1960s to over 90% in the current era, such that adult CHD (ACHD) patients now outnumber their pediatric counterparts. ACHD
David C. Bellinger, Radhakrishnan, Rupa, Lee, Vince, John F. Rhodes, Aizenstein, Howard, Lee, James N., Pediatric Heart Network MINDS Neuroimaging Ancillary Study Investigators, Silversides, Candice, Cohen, Scott, Thomas Chenevert, Cotts, Timothy Brett, Lynn A. Sleeper, Markham, Larry, Beluk, Nancy, Yuan, Weihong, Larry Markham, Lauryn M. Dugan, Howard Aizenstein, Panigrahy, Ashok, Dugan, Lauryn M., Jane W. Newburger, Newburger, Jane W., Glass Umfleet, Laura, Rodriguez, Fred Henry, Stephanie Fuller, Wheaton, Olivia, Deqiang Qiu, Fred Henry Rodriguez, Nancy Beluk, Berman, Jeffrey I., Christopher Cannistraci, James Coatsworth, Cannistraci, Christopher, Timothy Brett Cotts, Ermis, Peter, Ceschin, Rafael, Gagoski, Borjan, Vince Lee, Lazar Fleysher, Sue Beers, Fleysher, Lazar, Schmithorst, Vanessa, Christopher Macgowan, Laura Glass Umfleet, Wallace, Julia, Vanessa Schmithorst, Rhodes, John F., Borjan Gagoski, Gurvitz, Michelle, Arvind Hoskoppal, Zaidi, Ali, James N Lee, Julia Wallace, Ian Lindsay, Qiu, Deqiang, Chenevert, Thomas, Peter Ermis, Jeffrey I. Berman, Hoskoppal, Arvind, Ashok Panigrahy, Rupa Radhakrishnan, Lindsay, Ian, Andrew Nencka, Weihong Yuan, Brown, Nicole, Fuller, Stephanie, Beers, Sue, Macgowan, Christopher, Olivia Wheaton, Nencka, Andrew, Ali Zaidi, Nicole Brown, Michelle Gurvitz, Candice Silversides, Rafael Ceschin, Scott Cohen, Coatsworth, James, Sleeper, Lynn A., Bellinger, David C.   +78 more
core   +1 more source

Pulmonary veins stenosis relief after an inappropriate radiofrequency catheter ablation of atrial fibrillation in a young non-competitive athlete

Monaldi Archives for Chest Disease, 2018
One of the major complications of radiofrequency catheter ablation (RFCA) for atrial fibrillation (AF) is pulmonary vein stenosis (PVS). The natural history of PVS, especially when it involves more than one vein, leads to severe and irreversible ...
Berardo Sarubbi, Gaetano Rea, Giuseppe Santoro, Enrico Melillo, Giancarlo Scognamiglio, Maria Giovannna Russo   +5 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

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

Congenital Heart Disease : Molecular Genetics, Principles of Diagnosis and Treatment /

, 2015
This new book reviews the latest advances in the embryology, genetics, diagnosis, imaging, and therapy of congenital heart disease. The international cast of authors has combined its talents to produce a unique, expert perspective.
Muenke, M.
core  

Limited Accuracy of Administrative Data for the Identification and Classification of Adult Congenital Heart Disease

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background Administrative data sets utilize billing codes for research and quality assessment. Previous data suggest that such codes can accurately identify adults with congenital heart disease (CHD) in the cardiology clinic, but their use has yet to be ...
Abigail Khan, Katrina Ramsey, Cody Ballard, Emily Armstrong, Luke J Burchill, Victor Menashe, George Pantely, Craig S Broberg   +7 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source