Results 91 to 100 of about 22,654 (262)
ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or ...
Pauline Planté‐Bordeneuve+26 more
wiley +1 more source
A Ketogenic Very Low Calorie Diet (VLCD) in the Treatment of Children with NIDDM † 500 [PDF]
Steven M. Willi+3 more
openalex +1 more source
Serious adverse events are reported in five (10%) of 52 children, aged 1.5-16 years, treated with the ketogenic diet (4:1 ratio/fat: carbohydrate) over a 22-month period at the Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, NY.
openaire +4 more sources
Abstract Aim To evaluate the long‐term effectiveness and safety of a remote, medically supervised ketogenic nutrition therapy intervention for Veterans with type 2 diabetes (T2D). Materials and Methods This retrospective observational analysis examined de‐identified medical records of Veterans with T2D who engaged in a remote continuous care ...
Rebecca N. Adams+4 more
wiley +1 more source
The classical ketogenic diet, the medium chain triglyceride (MCT) diet, and a modified MCT diet were used in the treatment of 55 children and 4 adults with intractable epilepsy at the University and Clinical Departments of Paediatrics, John Radcliffe Hospital, Oxford, England.
openaire +4 more sources
Abstract Aims To identify predictors of diabetic ketoacidosis (DKA) in patients with an insulin‐deficient phenotype initiating sodium‐glucose cotransporter 2 inhibitor (SGLT2i) therapy. Materials and Methods This retrospective cohort study analysed data from 31 900 patients with diabetes aged 18–70 identified as having an insulin‐deficient phenotype ...
Anat Tsur+4 more
wiley +1 more source
Abstract Objective To date, the identification of objective biomarkers of neural epileptic activity (EA) remains challenging. We therefore investigated whether neuronal complexity could serve as an interictal electroencephalographic measure of EA, independent of interictal epileptiform discharges (IEDs). By tapering anti‐seizure medication (ASM) during
Ricardo Kienitz+6 more
wiley +1 more source
The Carbohydrate and Caloric Content of Concomitant Medications for Children with Epilepsy on the Ketogenic Diet [PDF]
Denis Lebel+4 more
openalex +1 more source
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot+19 more
wiley +1 more source