Results 31 to 40 of about 15,684 (257)

Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective

BMC Pediatrics, 2010
Background Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment.
Ishaque Sidra, Gulab Shamshad, Ibrahim Shahnaz, Saleem Taimur   +3 more
doaj   +1 more source

Clinical characteristics of children with infantile epileptic spasms syndrome from a tertiary-care hospital in Dhaka, Bangladesh

Heliyon, 2023
Background: We describe patient characteristics and response to initial treatment in a large case series of children presenting with infantile epileptic spasms syndrome to a tertiary-care hospital with a pediatric neurology service in Bangladesh.
Christina Briscoe Abath, Narayan Chandra Saha, Seikh Azimul Hoque, Ariful Islam, Yamin Shahriar Chowdhury, Mosammat Shameem Ara Begum, Tahera Sultana Davalji Kanjiker, Christopher J. Yuskaitis, Chellamani Harini, Md Badrul Alam, Quazi Deen Mohammed, Maitreyi Mazumdar   +11 more
doaj   +1 more source

Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]

, 2010
In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio, Ruggieri, Victor, Gonzalez, Gabriel, Cersósimo, Ricardo, Gamboni, Beatriz, Rey, Andrea, Poveda, Juan Carlos Perez, Dalla Bernardina, Bernardo   +7 more
core   +1 more source

Short Course and Early Switch of Vigabatrin for Infantile spasms [PDF]

Annals of Child Neurology, 2020
Purpose Vigabatrin has proven efficacy in the treatment of infantile spasms, but it carries the risk of irreversible visual field constriction. The incidence of vigabatrin-induced visual field constriction seems to depend on the extent of vigabatrin ...
Hye Won Ryu, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim   +6 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response

Global Pediatric Health, 2019
Objectives. To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population ...
Dee Daniels CPNP, RN, MSN, Kelly Knupp MD, MSCS, Tim Benke MD, PhD, Kristine Wolter-Warmerdam PhD, ABD, MA, Maura Moran BA, Fran Hickey MD   +5 more
doaj   +1 more source

Case Report: Neurodevelopmental Outcome in a Small-for-Gestational-Age Infant With Symptomatic Hyperinsulinemic Hypoglycemia, Gaze Preference, and Infantile Spasms

Frontiers in Endocrinology, 2022
Recurrent and profound hypoglycemia is a leading cause of neonatal brain injury. Small-for-gestational-age infants are at risk of hypoglycemia due to substrate deficiency and hyperinsulinism. Inappropriate insulin secretion by the β-cells of the pancreas
Suresh Chandran, Suresh Chandran, Suresh Chandran, Suresh Chandran, Kok Wooi Teoh, Krishnappa Janardhan, Krishnappa Janardhan, Krishnappa Janardhan, Krishnappa Janardhan, Fabian Yap, Fabian Yap, Fabian Yap   +11 more
doaj   +1 more source

Corticotropin (ACTH) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression. [PDF]

, 2001
The hormone corticotropin (ACTH) is employed as therapy for diverse neurological disorders, but the mechanisms for its efficacy remain unknown. ACTH promotes the release of adrenal steroids (glucocorticoids), and most ACTH effects on the central nervous ...
Adan, Baram, Baram, Baram, Baram, Baram, Baram, Baram, Brunson, Crofford, de Wied, Eghbal-Ahmadi, Fisher, Gantz, Gottlieb, Hatalski, Hauger, Hollrigel, Holmes, Hrachovy, Hrachovy, Joseph, Kask, Koo, Lee, Liang, Lightman, Lombroso, Mezey, Mountjoy, Mountjoy, Nalin, Nicholson, Pentella, Pilcher, Pranzatelli, Pranzatelli, Raber, Reul, Riikonen, Rothwell, Sapolsky, Sawchenko, Schulkin, Snead, Snead, Tsagarakis, Watson, Willig, Wu, Yi   +50 more
core   +1 more source

A Systematic Literature Review and Indirect Treatment Comparison of Efficacy of Repository Corticotropin Injection versus Synthetic Adrenocorticotropic Hormone for Infantile Spasms

Journal of Health Economics and Outcomes Research, 2021
# Background Infantile spasms is a rare disease characterized by distinct seizures and hypsarrhythmia. Adrenocorticotropic hormone (ACTH) is available as a natural product (repository corticotropin injection, [RCI]; Acthar® Gel) and as synthetic analogs.
Michael S. Duchowny, Ishveen Chopra, John Niewoehner, George J. Wan, Beth Devine   +4 more
doaj   +1 more source

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]

, 2018
FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A.   +9 more
core   +1 more source