Results 91 to 100 of about 148,895 (244)

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

Heart failure in patients with a systemic right ventricle: A multicentre study with long‐term follow‐up

European Journal of Heart Failure, EarlyView.
Risk of heart failure hospitalization in patients with a systemic right ventricle. AF, atrial fibrillation; AtrSO, atrial switch operation; ccTGA, congenitally corrected transposition of the great arteries; D‐TGA, dextro‐transposition of the great arteries; ECG, electrocardiogram; HF, heart failure; HR, hazard ratio; NYHA, New York Heart Association ...
Mohammad Mostafa Ansari Ramandi, Werner Budts, Jolien W. Roos‐Hesselink, Willem A. Helbing, Anastasia D. Egorova, Berto J. Bouma, Anthonie Duijnhouwer, Roland van Kimmenade, Gertjan T. Sieswerda, Thelma C. Konings, Lodewijk J. Wagenaar, Joey F.A. Ubachs, Rolf M.F. Berger, Elke S. Hoendermis, Adriaan A. Voors, Joost P. van Melle   +15 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

‘Had it not been for her’: Gender, Care Labour and Disability in the British Caribbean, 1788–1834

Gender &History, EarlyView., 2023
Abstract This article explores the intersections between gender, disability and care labour in the slaveholding societies of the British Caribbean from 1788 to 1834. Considered economic burdens by slaveholders, aged and disabled bondswomen were made productive through caring for their enslaved peers, many of whom were themselves temporarily ...
Stefanie Hunt‐Kennedy
wiley   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

Ketogenic diet therapy for epilepsy during pregnancy and lactation: An international survey exploring clinician perspectives

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic diet therapies (KDTs) are increasingly used as a treatment for people with epilepsy of childbearing potential (PWECP) and glucose transporter type 1 deficiency syndrome (Glut1DS). The aim of this study was to collect information on clinical experience with KDT during pregnancy and lactation in these populations.
Kelly Faltersack, Tanya J. W. McDonald, Valentina De Giorgis, Bobbie Barron, Mackenzie C. Cervenka, Anita Devlin, Laura A. Healy, Magnhild Kverneland, Elles van der Louw, Mengyang Lu, Martina P. Zanaboni, Marisa Armeno, Elizabeth A. Felton   +12 more
wiley   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure, EarlyView.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
wiley   +1 more source

Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency

Head &Neck, EarlyView.
ABSTRACT Background GATA2 deficiency is a rare genetic disorder associated with hematologic, infectious, and neoplastic complications. We report a case of a patient with GATA2 deficiency who developed aggressive squamous cell carcinoma (SCC) of the head and neck, an atypical manifestation of this condition.
Brejjette Aljabi, James A. Stewart, Kirk Withrow, Carissa M. Thomas   +3 more
wiley   +1 more source