Results 21 to 30 of about 268,123 (292)
Annals of Medical Science and Research, 2023 West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson +2 more
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Journal of Contemporary Medicine, 2023 Background: We aimed to investigate the short-term effects of adrenocorticotropic hormone (ACTH) treatment on the adrenal pathway and bone metabolism in patients with epileptic encephalopathy.
Bülent Kara +5 more
doaj +1 more source
West syndrome: case report and molecular aspects of treatment
, 2022 Introducción: el síndrome de West es una encefalopatía epiléptica grave que se presenta generalmente en el primer año de vida. Este síndrome se caracteriza por la tríada electroclínica de espasmos en salvas, patrón electroencefalográfico de hipsarritmia ...
Aponte, Alvaro +11 more
core +1 more source
Malang Neurology Journal, 2022 Background: Kabuki syndrome is a rare disease. In 2018, a global consensus on diagnostic criteria for Kabuki syndrome (KS) was published, diagnosing KS both with and without molecular genetic confirmation.
Marina Zhitomirskaya +3 more
doaj +1 more source
Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms
Children, 2020 Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of
Remi Janicot +2 more
doaj +1 more source
Investigations in West Syndrome: Which, When and Why
Pediatric Neurology Briefs, 2015 Investigators from the National Infantile Spasms Consortium (NISC) in the USA studied the etiology of new-onset infantile spasms (IS) in 251 infants (mean age at onset, 7.1, range, 0.1-22.7 months).
Richard E Appleton
doaj +1 more source
Speech Language and Hearing Aspects in West Syndrome: A Single-Case Report
Journal of Integrated Health Sciences, 2023 West syndrome (WS), or infantile spasms, is a rare type of epilepsy that usually appears in the 1st year of life. It is characterized by a specific type of seizure called a spasm, which involves sudden, brief jerks of the arms, legs, or trunk.
Mukesh Sharma +2 more
doaj +1 more source
Factors associated with complementary and alternative medicine use in Irritable Bowel Syndrome: a literature review [PDF]
, 2013 Aim: Irritable Bowel Syndrome (IBS) is a chronic functional bowel condition, which has substantial impact on quality of life and use of healthcare services.
Usher, Lee +3 more
core +1 more source
Neuromuscular Disorders, 2017 Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy.
Cardas, R +10 more
openaire +4 more sources
Cowden syndrome - Diagnostic skin signs [PDF]
, 2001 Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +2 more
core +1 more source