Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Background: Glycemic index and/or glycemic load have been explored as an alternative for the prevention and/or management of obesity, cardiovascular disease, type 2 diabetes mellitus, and cancer.
Martí Juanola-Falgarona +4 more
doaj +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Glycemic load, glycemic index, and body mass index in Spanish adults [PDF]
Studies on obesity and glycemic index (GI) or glycemic load (GL) have had inconsistent results, perhaps in part because of underreporting or to heterogeneous dietary patterns across food cultures.We examined associations between body mass index (BMI) and GI or GL in a Mediterranean population, accounting for underreporting.
Michelle A, Mendez +4 more
openaire +2 more sources
Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son +3 more
wiley +1 more source
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 +6 more
wiley +1 more source
Study on the effects of adding konjac refined flour on the quality of fresh wet rice noodle
Objective: This study aimed to develop konjac rice noodles products with low glycemic index. Methods: The fresh wet rice noodles was made by adding 20%, 10% and 5% konjac refined flour into rice noodles, respectively.
GONG Xue +4 more
doaj +1 more source
The effect of high carbohydrate meals with different glycemic indices on recovery of performance during prolonged intermittent high intensity shuttle running [PDF]
This study examined the effect of high carbohydrate meals with different glycemic indices (GI) on recovery of performance during prolonged intermittent high-intensity shuttle running.
Williams, Clyde +5 more
core
Charting Endocrine Progenitors Across Species and Organs
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing +21 more
wiley +1 more source
Kajian Aktivitas Indeks Glikemik Brownies Kukus Substitusi Tepung Ubi Jalar Termodifikasi
Sweet potato is a source of carbohydrates with a low glycemic index. That could aimed to substitute wheat flour in making brownies. These study purposes were to determine the organoleptic characterictic, glycemic index and glycemic load of Modified sweet
Sefanadia Putri
doaj +1 more source

