Results 21 to 30 of about 202,677 (211)

The Effectiveness of Acth Therapy According to Etiology in Patients with West Syndrome and Its Long-Term Effects on Bone Mineral Metabolism and Adrenal Pathway

Çocuk Dergisi, 2022
Objective: West syndrome is the most common infantile epileptic encephalopathy, and ACTH or oral corticosteroids are frequently used in its treatment. The aim of this study was to evaluate the efficacy of ACTH therapy and its effects on bone metabolism ...
Mesut Güngör, Mine Düzgöl, Hülya Maraş Genç, Emek Uyur Yalçın, Filiz Mine Çizmecioğlu Jones, Bülent Kara   +5 more
doaj   +1 more source

DMD and West syndrome

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, Iliescu, C, Butoianu, N, Seferian, A, Gataullina, S, Gargaun, E, Nectoux, J, Bienvenu, T, Craiu, D, Gidaro, T, Servais, L   +10 more
openaire   +4 more sources

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

Brain connectivity in West syndrome [PDF]

Seizure, 2014
Hypsarrhythmia, the pathognomonic EEG pattern of West syndrome, is typically characterized by a high amplitude, arrhythmic, and asynchronous pattern. While this severely aberrant pattern would suggest severe abnormalities in connectivity, coherence has not yet been systematically assessed in hypsarrhythmia.We evaluated the EEGs of 28 infants, 12 with ...
Scott A. Burroughs, Steven H. Mott, Richard P. Morse, Gregory L. Holmes, Gregory L. Holmes   +4 more
openaire   +3 more sources

Metabolic etiologies in West syndrome [PDF]

Epilepsia Open, 2018
SummaryWest syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG)abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments.
Seda Salar, Solomon L. Moshé, Aristea S. Galanopoulou   +2 more
openaire   +2 more sources

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, Mansha Parmar, Santosh Kumar   +2 more
doaj   +1 more source

The early electroclinical manifestations of infantile spasms: A video EEG study

Annals of Indian Academy of Neurology, 2016
Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature.
Mary Iype, Puthuvathra Abdul Mohammed Kunju, Geetha Saradakutty, Devi Mohan, Shahanaz Ahamed Mohammed Khan   +4 more
doaj   +1 more source

WEST SYNDROME REVISITED

Эпилепсия и пароксизмальные состояния, 2017
West syndrome is an epileptic syndrome, characterized by a triad of symptoms: infantile spasms, hypsarrhythmia on interictal EEG, and a regression or delay of psycho-motoric development.
T. G. Okhapkina, Z. K. Gorchanova, I. V. Shulyakova, E. S. Ilyina, E. S. Michurina, E. D. Belousova   +5 more
doaj   +1 more source

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Rare
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk   +6 more
doaj   +1 more source

Unusual cause of west syndrome

Journal of Pediatric Neurosciences, 2017
Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period.
Paramjeet Singh, Kirti Gupta, Pratibha Singhi, Naveen Sankhyan, Hansashree Padmanabh, Ananthanarayanan Kasinathan   +5 more
openaire   +4 more sources