Results 41 to 50 of about 59,645 (241)
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 +11 more
doaj +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 +5 more
doaj +1 more source
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 +4 more
doaj +1 more source
Utilizing Animal Models of Infantile Spasms
, 2018 Infantile spasms are a devastating epileptic encephalopathy characterized by early life spasms and later seizures. Clinical outcomes of infantile spasms are poor and therapeutic options are limited with significant adverse effects.
Chris G. Dulla
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou +6 more
wiley +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
Infantile spasms and pigmentary mosaicism
, 2009 Udgivelsesdato: JulSummary We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy,
Anette Bygum +5 more
core +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
, 2017 Infantile Spams is an epilepsy syndrome that usually appears in children between the ages of four and eight months. The spasms generally occur upon waking or right after feeding, and can occur in clusters of a hundred or more at a time (Go et al., 2012).
Cash, Ashley
core
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source