Results 111 to 120 of about 37,810 (312)

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

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core  

Temporal Trends in the Epidemiology of Eating Disorders Between 2000 and 2022: A Danish Register Study of Their Incidence and Comorbidities

European Eating Disorders Review, EarlyView.
ABSTRACT Background Eating disorders are debilitating illnesses that often co‐occur with other psychiatric disorders and somatic diseases. Evidence indicates that the incidence of eating disorders has been increasing. We first examine the landscape of EDs over time, including the COVID‐19 period, via assessing the incidence of anorexia nervosa (AN ...
Nadia Micali, Helena L. Davies, Heidi Jeannet Graff, Laust H. Mortensen, Emilie R. Hegelund   +4 more
wiley   +1 more source

The Depth‐Specific Effects of Acupuncture for Post‐Stroke Gastroparesis: Protocol for a Randomized Controlled Trial of Deep Versus Superficial Needling

Gut Medicine, EarlyView.
ABSTRACT Background Post‐stroke gastroparesis (GP) is a debilitating complication that severely impairs quality of life. Although abdominal acupuncture is widely used, robust evidence regarding its efficacy, particularly concerning the critical parameter of the needling depth, is still lacking.
Xiangcheng Wei, Can Wang, Yuan Qin, Lanping Li, Shiqing Zhao, Yee Hwee Cheong, Yang Guo, Lingyong Xiao, Xiaoyu Dai   +8 more
wiley   +1 more source

Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]

, 2019
Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core   +1 more source

Machine learning‐based prediction of large‐for‐gestational‐age neonates in diabetic and non‐diabetic pregnancies

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study determines whether a machine‐learning model integrating sonographic biometry with maternal clinical parameters improves prediction of large‐for‐gestational‐age (LGA) compared with Hadlock's EFW formula. Methods We conducted a retrospective cohort study including all singleton live births at ≥32 gestational weeks at a ...
Ohad Houri, Asaf Romano, Asnat Walfisch, Eran Hadar, Yinon Gilboa, Leor Perl, Nadav Loebl, Ron Unger   +7 more
wiley   +1 more source

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?

Orphanet Journal of Rare Diseases
Background Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease
María Daniela Santacruz Reyes, Jörn Oliver Sass   +1 more
doaj   +1 more source

Construction of a clickable probe‐based protein chip platform for discovering covalent mIDH1 inhibitors from natural medicinal extracts

iMeta, EarlyView.
In this study, we develop a flexible Ccc‐Chip (protein microarray + bioorthogonal click chemistry) for high‐throughput screening of natural covalent active molecules from medicinal plant extracts, identifying flavokawain C from Piper methysticum Forst as a novel covalent mIDH1 inhibitor.
Zhao Cui, Jiameng Li, Caifeng Li, Mo Sun, Wei Liu, Xuxia Cao, Shiwen Deng, Junxian Cao, Hongjun Yang, Peng Chen   +9 more
wiley   +1 more source