Results 81 to 90 of about 38,036,070 (284)

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source

High axial myopia in neurofibromatosis type 1

Indian Pediatrics Case Reports, 2021
Background: Clinicians must be aware of phenotypic variability in neurofibromatosis type 1 (NF 1) presentations. There is perhaps a limited understanding on progression of NF 1 in prepubertal years and the subsequent threat to vision.
Rajiv Garg, Siddharth Madan, Nisha Yadav, Rekha Yadav   +3 more
doaj   +1 more source

Raising resilience: A parenting intervention for families affected by childhood epilepsy

Epilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman, Bianca C. Bondi, Chantal C. Cheung, Heather Olivieri, Tricia S. Williams   +4 more
wiley   +1 more source

Caracterización clínica de pacientes con neurofibromatosis segmentaria Clinical characterization of patients with segmental neurofibromatosis

Revista de Ciencias Médicas de Pinar del Río, 2012
La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo, Anitery Travieso Téllez   +1 more
doaj  

Neurofibromatosis Type 1 and Vitamin B12

Journal of the College of Physicians and Surgeons Pakistan, 2021
The aim of this study was to evaluate vitamin B12 levels in the patients diagnosed with neurofibromatosis type 1 (NF1) and to compare them with a healthy group. In this study, the files of the patients, who were admitted to the pediatric neurology outpatient clinic of a tertiary university hospital and were followed up after being diagnosed with ...
Aydın, Hilal, Bucak, İbrahim Hakan
openaire   +4 more sources

Abordaje clínico de variantes fenotípicas en neurofibromatosis de tipo 1 [PDF]

, 2019
Neurofibromatosis type 1 is an autosomal dominant disorder, with multisystemic affectation and high phenotypic variation, caused by NF1 mutation in the locus 17 q11.2 that codes for neurofibromin.The estimated prevalence of people affected by this ...
López, Jairo Enrique, Vallejo, Dora Lucía   +1 more
core  

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. [PDF]

PLoS ONE, 2018
BACKGROUND AND PURPOSE:Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
Claudia Santoro, Teresa Giugliano, Markus Kraemer, Annalaura Torella, Jan Claudius Schwitalla, Mario Cirillo, Daniela Melis, Peter Berlit, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso   +10 more
doaj   +1 more source

Selumetinib in Children with BRAF-Aberrant or Neurofibromatosis type 1-Associated Recurrent, Refractory or Progressive Low-Grade Glioma: a Multi-Center Phase II Trial

The Lancet Oncology, 2019
Background: Pediatric low-grade glioma (pLGG) is the most common central nervous system tumor of childhood. Although overall survival is very good, many children suffer from multiple progressions and functional morbidities.
J. Fangusaro, A. Onar-Thomas, T. Poussaint, Sheng-Jie Wu, A. Ligon, N. Lindeman, A. Banerjee, R. Packer, L. Kilburn, S. Goldman, I. Pollack, I. Qaddoumi, R. Jakacki, P. Fisher, G. Dhall, P. Baxter, S. Kreissman, C. Stewart, David T. W. Jones, S. Pfister, G. Vezina, J. Stern, A. Panigrahy, Z. Patay, B. Tamrazi, Jeremy Y. Jones, S. Haque, D. Enterline, S. Cha, M. Fisher, L. Doyle, Malcolm A. Smith, I. Dunkel, M. Fouladi   +33 more
semanticscholar   +1 more source

Somatostatinoma: Beyond neurofibromatosis type 1 (Review).

Experimental and Therapeutic Medicine, 2020
Somatostatinoma is a tumour mainly originating from pancreas or duodenum; overall with an incidence of 1/40 million persons. We introduce a narrative review of literature of somatostatinoma including the relationship with neurofibromatosis type 1 ...
F. Șandru, M. Carsote, A. Valea, S. Albu, R. Petca, M. Dumitrașcu   +5 more
semanticscholar   +1 more source