Results 251 to 260 of about 603,166 (389)

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

Impact of Mildly Elevated Alanine Transaminase on In-Hospital Outcomes and Statin Intolerance in Elderly Patients With Acute Myocardial Infarction: A Retrospective Cohort Study. [PDF]

Cardiol Res Pract
Liang Y, Li M, Huang J, Wang R, Mo Y, He X, Xue L.   +6 more
europepmc   +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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

FADS2 expression modulates effect of dietary polyunsaturated fatty acids on western diet-induced glucose intolerance

, 2017
Peter Linde, Chicco, Adam, Melby, Christopher, Bouma, Gerrit   +3 more
openalex   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Early versus delayed enteral nutrition for preterm Neonates: A systematic review and meta-analysis of randomized controlled trials. [PDF]

J Family Med Prim Care
Alqahtani A.
europepmc   +1 more source

Bioengineered Isoflavone–Probiotic Functional Foods for Sustainable Modulation of Metabolic and Reproductive Health in PCOS

Food Bioengineering, EarlyView.
Synergistic isoflavone‐probiotic action modulated metabolic, microbial and ovarian pathway ABSTRACT Polycystic ovary syndrome (PCOS) is a prevalent metabolic–endocrine disorder characterized by insulin resistance, hyperandrogenism, chronic inflammation, oxidative stress, and ovarian dysfunction, with growing evidence implicating gut microbiota ...
Jeyavelkumaran Renukadevi, Panneerselvam Sneha, Dhanapal Saravanan Mridula, Keerthivasan Nimithasree, Valliappan Sanjay   +4 more
wiley   +1 more source

Semaglutide can only be responsible for exercise intolerance and muscle wasting after all other causes have been carefully excluded. [PDF]

Korean J Fam Med
Finsterer J.
europepmc   +1 more source