Results 41 to 50 of about 15,690 (256)

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

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

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

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

UK Infantile Spasms Study: Effect of Time to Treatment and Age at Onset on Developmental Outcome

Pediatric Neurology Briefs, 2011
The effects of lead time to treatment (time from onset of spasms to start of treatment), age at onset of spasms, etiology, and treatment on developmental outcome at 4 years were investigated using multiple linear regression in 77 infants with spasms ...
J Gordon Millichap
doaj   +1 more source

Dynamic imaging of coherent sources reveals different network connectivity underlying the generation and perpetuation of epileptic seizures [PDF]

, 2013
The concept of focal epilepsies includes a seizure origin in brain regions with hyper synchronous activity (epileptogenic zone and seizure onset zone) and a complex epileptic network of different brain areas involved in the generation, propagation, and ...
Anwar, Abdul Rauf, Deuschl, Günther, Elshoff, Lydia, Muthuraman, Muthuraman, Raethjen, Jan, Siniatchkin, Michael, Stephani, Ulrich   +6 more
core   +3 more sources

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

, 2019
BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY, Corsello G, Falsaperla R., Jin DK, Marino S, Marino SD, Pappalardo XG, Pavone P, Ruggieri M   +8 more
core   +1 more source

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley   +1 more source

The 50 years experience of adrenocorticotropic hormone (ACTH) use in West Syndrome: literatura review and UNIFESP protocol [PDF]

, 2008
INTRODUÇÃO: A eficácia do ACTH no tratamento da Síndrome de West (SW) é extensivamente debatida na literatura, o mesmo ocorrendo em relação às doses, efeitos colaterais e protocolos de utilização.
GARZON, Eliana, GOMES, Maria Durce Costa, SAKAMOTO, Américo C.   +2 more
core   +2 more sources