Results 121 to 130 of about 17,755 (294)
Managing Dystonia in Partington Syndrome
Movement Disorders Clinical Practice, EarlyView.Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon +13 more
wiley +1 more source
The hairy elbows syndrome: clinical and neuroradiological findings. [PDF]
, 2008 The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces.
CORSELLO, Giovanni +6 more
core
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Long-term weekly adrenocorticotropic hormone therapy for relapsed infantile spasms [PDF]
, 2017 Takeo Kato
openalex +1 more source
Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms—a case report [PDF]
, 2021 Jinrong Li +5 more
openalex +1 more source
The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy
Pediatric Investigation, EarlyView.The ketogenic diet alleviates West syndrome by reshaping gut microbiota (increasing Bacteroides, Parabacteroides, and reducing Escherichia and Bifidobacterium), and modulating metabolites—including anticonvulsant lipids (e.g., capric acid), suppressed harmful lipids (e.g., 2‐methylbutyroylcarnitine), and amino acids and analogs (e.g., 3‐sulfinoalanine)—
Gan Xie +5 more
wiley +1 more source
Treatment of pediatric epilepsy
Pediatric Investigation, EarlyView.Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li +8 more
wiley +1 more source
The return of metabolism: biochemistry and physiology of glycolysis
Biological Reviews, EarlyView.ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning +19 more
wiley +1 more source
Clinical Genetics, EarlyView.We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman +6 more
wiley +1 more source
The ACTH Quandary: Balancing Efficacy and Affordability for Infantile Spasms Treatment. [PDF]
Epilepsy Curr, 2023 Aungaroon G.
europepmc +1 more source