Results 31 to 40 of about 22,612 (263)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Validation of an Italian Questionnaire of Adherence to the Ketogenic Dietary Therapies: iKetoCheck

Foods, 2023
Ketogenic dietary therapies (KDTs) are an effective and safe non-pharmacological treatment for drug-resistant epilepsy, but adherence can be challenging for both patients and caregivers.
Lenycia de Cassya Lopes Neri, Monica Guglielmetti, Valentina De Giorgis, Ludovica Pasca, Martina Paola Zanaboni, Claudia Trentani, Elena Ballante, Serena Grumi, Cinzia Ferraris, Anna Tagliabue, on behalf of the KDTs Delphi Validation Study Group   +10 more
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Significant Weight Loss on a Modified Ketogenic Diet and Intermittent Fasting in a Child With Monogenic Obesity: A Case Report

Dr. Sulaiman Al Habib Medical Journal
Melanocortin-4 receptor (MC4R) mutations disrupt body weight homeostasis and the appetite-feedback loop, affecting approximately 1%–6% of the population.
Bushra Hafez, Zainab Alghamdi, Abdullah Alkhani   +2 more
doaj   +1 more source

Exploring the Impact of Meat Alternative Labeling Regulations on the U.S. Meat Consumption Patterns

Agribusiness, EarlyView.
ABSTRACT The global demand for conventional meat continues to rise, but it is also associated with substantial environmental and health challenges. In response, meat alternatives have gained popularity, sparking debates over meat alternative labeling regulations. This study investigates the effects of meat alternative labeling regulations in the United
Jeong Hun Ji, Sang Hyeon Lee
wiley   +1 more source

The liver‐brain axis: A multidimensional regulatory network implicated in Alzheimer's disease pathogenesis and clinical implications

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
wiley   +1 more source

Ketogenic diets slow melanoma growth in vivo regardless of tumor genetics and metabolic plasticity

Cancer & Metabolism, 2022
Background Growing evidence supports the use of low-carbohydrate/high-fat ketogenic diets as an adjunctive cancer therapy. However, it is unclear which genetic, metabolic, or immunological factors contribute to the beneficial effect of ketogenic diets ...
Daniela D. Weber, Sepideh Aminzadeh-Gohari, Maheshwor Thapa, Anna-Sophia Redtenbacher, Luca Catalano, Tânia Capelôa, Thibaut Vazeille, Michael Emberger, Thomas K. Felder, René G. Feichtinger, Peter Koelblinger, Guido Dallmann, Pierre Sonveaux, Roland Lang, Barbara Kofler   +14 more
doaj   +1 more source

Gut–Brain Axis Modulation by Short‐Chain Fatty Acids Exerts Disease‐Modifying Effects in a Murine Model of Drug‐Resistant Epilepsy

Annals of Neurology, EarlyView.
Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera, Rossella Di Sapia, Greta Volpedo, Sneha Anand, Eray Sahin, Pasquale Baldassarre, Francesca Buffelli, Andrea Petretto, Chiara Lavarello, James D. Mills, Gabriele Cattaneo, Ilaria Craparotta, Eleonora Aronica, Antonella Riva, Pasquale Striano, Annamaria Vezzani, Teresa Ravizza   +16 more
wiley   +1 more source

A price check on the ketogenic diet for adults with epilepsy in Australia

Epilepsia Open
Objective The ketogenic diet is an established and effective treatment for drug‐resistant epilepsy and is an emerging therapy for other conditions. Affordability of therapeutic ketogenic diets for epilepsy has not been well studied.
Lillian King, Jessica Maccarrone, Ashwinpreet Kaur, Susanna Chen, Patrick Kwan, Terence J. O'Brien, Neha Kaul   +6 more
doaj   +2 more sources

Progress in the Application and Scheme of the Ketogenic Diet in the Treatment of Metabolic Diseases

Shipin gongye ke-ji, 2023
Ketogenic diets have been shown to play a role in some metabolic diseases and neurodegenerative diseases as a low-carbohydrate, high-fat diets supplemented with appropriate protein. Ketogenic diets have been proven effective, but the mechanisms of action
Yuqi LI, Yongbo ZHOU, Yongjun SHAN, Shiying HUANG, Lixin ZHOU, Jian LI   +5 more
doaj   +1 more source