Results 121 to 130 of about 257,105 (351)

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

Parents' quality of life and health after treatment decision for a fetus with severe congenital heart defect. [PDF]

J Pediatr Nurs, 2023
Delaney RK, Thorpe A, Pinto NM, Ozanne EM, Pershing ML, Hansen LM, Lambert LM, Tanner K, Fagerlin A.   +8 more
europepmc   +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

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

Quality of Life After Heart Transplantation for Congenital Heart Defect. [PDF]

Transpl Int, 2022
Martens S, Tie H, Scheld HH, Martens S, Hoffmeier A.   +4 more
europepmc   +1 more source

Nausea during Pregnancy and Congenital Heart Defects: A Population-based Case-Control Study [PDF]

, 1999
Roumiana S. Boneva, C. A. Moore, L. Botto, Lye-Yeng Wong, Jon D. Erickson   +4 more
openalex   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Untreated patient of Pentalogy of Cantrell surviving into the sixth decade: A unique case report

IHJ Cardiovascular Case Reports, 2018
Pentalogy of Cantrell is a rare syndrome consisting of a constellation of congenital anomalies including omphalocoele, lower sternal defect, sdiaphragmatic defect, diaphragmatic pericardial defect and congenital heart disease.
Neha Nischal, Sakshi Arya, Sunil Kumar Puri, Vijay Kumar Trehan   +3 more
doaj  

Life situation of a caregiver of a child with congenital heart defect and/or other cardiac problems: structure and preliminary validation of a new questionnaire. [PDF]

Front Psychol, 2023
Kolarczyk E, Morka A, Barański K, Szydłowski L.   +3 more
europepmc   +1 more source

Resting coronary flow and coronary flow reserve in human infants after repair or palliation of congenital heart defects as measured by positron emission tomography [PDF]

, 1998
Jon Donnelly, David M. Raffel, Barry L. Shulkin, James R. Corbett, Edward L. Bove, Ralph S. Mosca, Thomas J. Kulik   +6 more
openalex   +1 more source