Results 161 to 170 of about 345,553 (334)

Quality of life in pediatric patients on a paracorporeal ventricular assist device with a novel mobile driving system

JHLT Open
Background: EXCOR ventricular assist device (VAD) is the gold standard circulatory support for children with end-stage heart failure. Until recently, the only available driving unit was the stationary Ikus.
Oliver Miera, Eugen Sandica, Nikolaus A. Haas, Martin Schweiger, Brigitte Stiller, Rainer Kozlik-Feldmann, Maria-Helena Perez, Ina Michel-Behnke, Katharina R.L. Schmitt, Stephan Schubert, Daniel Zimpfer   +10 more
doaj  

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

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

European Journal of Human Genetics, 2018
Rosalind Verheije, G. Kupchik, B. Isidor, H. Kroes, S. Lynch, L. Hawkes, M. Hempel, B. Gelb, J. Ghoumid, G. D'Amours, K. Chandler, C. Dubourg, S. Loddo, Z. Tümer, C. Shaw-Smith, M. Nizon, M. Shevell, Evelien Van Hoof, K. Anyane-Yeboa, G. Cerbone, J. Clayton-Smith, B. Cogné, P. Corre, A. Corveleyn, Marie de Borre, T. D. Hjortshøj, M. Fradin, M. Gewillig, E. Goldmuntz, G. Hens, E. Lemyre, H. Journel, U. Kini, F. Kortüm, C. Le Caignec, A. Novelli, S. Odent, F. Petit, Anya Revah-Politi, N. Stong, T. Strom, E. van Binsbergen, K. Devriendt, J. Breckpot   +43 more
semanticscholar   +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

Critical Evaluation of Methods for the Identification of Aneugens

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT The genotoxic potential of chemicals must be evaluated in regulatory safety assessment settings, including but not limited to, the development of new pharmaceuticals, industrial chemicals, food and cosmetic ingredients, and agrochemicals. Initial assessment of the chromosome‐damaging potential of chemicals is often conducted in mammalian cells
Xiaowen Sun, Stephen D. Dertinger, Azeddine Elhajouji, Daniel J. Roberts, Jan van Benthem, Maik Schuler, Shambhu Roy, Alexandra Taraboletti, Connie L. Chen   +8 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

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

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

Effects of Pax3 mutation and Neural Crest genetic ablation on congenital heart function and embryonic lethality [PDF]

, 2011
poster abstractCongenital heart defects (CHDs) occur in approximately one percent of births every year (American Heart Association, 2008). This makes it the most frequently occurring congenital defect in humans.
Chikaraishi, Dona M., Conway, Simon J., Olaopa, Michael, Snider, Paige, Zhou, Hong-Ming   +4 more
core