Results 61 to 70 of about 908,246 (301)

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

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Health Benefits of Polysaccharides in Red Algae: A Comprehensive Review

Food Frontiers, EarlyView.
Graphical abstract showing the health benefits of red algal polysaccharides. ABSTRACT Humans have long consumed red algae (especially by the Asian community), and their polysaccharide extracts (carrageenan, agar) are extensively used in the food industry as gel thickeners.
Sammueal Jun Kai Ong, Matthew Myint, Sean Chia, Chee Fan Tan, Yi Fan Hong, Meiyappan Lakshmanan, Ying Swan Ho, Thomas T. Wheeler, Xuezhi Bi, Ian Walsh, Kuin Tian Pang   +10 more
wiley   +1 more source

Protective Effects of Auricularia auricula Polysaccharides on Acute Lung Injury by Regulating Intestinal Flora and Metabolism

Food Frontiers, EarlyView.
Auricularia auricula polysaccharides (AAP; 100, 200, and 400 mg/kg) protect against acute lung injury (ALI) by dose‐dependently remodeling the gut microbiota and modulating associated metabolic pathways via the gut‐lung axis, thereby enhancing pulmonary anti‐inflammatory and antioxidant capacity to ultimately prevent tissue damage.
Haili Niu, Fangjia Zhao, Qi Wang, Min Li, Yuan Li, Ivan Kurtovic, Zitong Zhang, Yahong Yuan, Tianli Yue   +8 more
wiley   +1 more source

Assessment of Metabolites in Noni Fruit Slurry Fermented With Four Non‐Saccharomyces Yeasts

Food Frontiers, EarlyView.
Dried noni fruit slurry (DNFS) was fermented for 14 days with selected non‐Saccharomyces yeasts. GCMS, HPLC and amino acid analysis showed that Pichia kluyveri Frootzen and Williopsis saturnus NCYC22 grew well, reduced off‐flavor fatty acids, generated fruity aroma compounds and preserved total phenolic content. ABSTRACT Noni products often suffer from
Zhuoran Zhang, Shao Quan Liu, Yuyun Lu
wiley   +1 more source

Partial Pyridoxine Responsiveness in PNPO Deficiency [PDF]

, 2012
Autosomal-recessive pyridox(am)ine phosphate oxidase (PNPO) deficiency causes pyridoxal-5-phosphate (PLP)-dependent epilepsy. We describe partial PNPO deficiency with a transient response to pyridoxine (B6).CSF neurotransmitter metabolites, PLP, and amino acids were analyzed while the patient was receiving pyridoxine. PNPO gene sequencing was performed
Phillip L, Pearl, Keith, Hyland, J, Chiles, Colleen L, McGavin, Yuezhou, Yu, Donald, Taylor   +5 more
openaire   +2 more sources

Buck Wheat: Nutritional, Bioactive Characteristics, Health Benefits, and Side Effects

Future Postharvest and Food, EarlyView.
ABSTRACT Micronutrient deficits have resulted from an over‐reliance on a small number of cereal crops for food security. The agricultural sector faces severe sustainability issues due to the rapid growth of the world's population and sudden climatic changes.
Momina Farooq, Sajad Ahmad Mir, Zahida Naseem   +2 more
wiley   +1 more source

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

Tokyo Women's Medical University Journal, 2019
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene.
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto   +7 more
doaj   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Martens J, Engelke UFH, Wevers RA, Lefeber DJ, Kulkarni P.   +4 more
europepmc   +2 more sources

Pyridoxine Deficiency in Turkeys

Experimental Biology and Medicine, 1943
SummaryPyridoxine deficiency in turkeys is characterized by loss of appetite, poor growth, apathy, hyperexcitability when disturbed, convulsions, and death. Pyridoxine prevented the deficiency symptoms.
F. H. Bird, F. H. Kratzer, V. S. Asmundson, S. Lepkovsky   +3 more
openaire   +1 more source