Results 41 to 50 of about 38,097 (208)

Retrospective Analysis of T2‐Hyperintense Lesions in Children With Neurofibromatosis Type 1

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The aim of this study is to determine whether a previously reported three‐tiered classification scheme for T2‐hyperintense brain lesions in children with neurofibromatosis type 1 (NF1) was associated with distinct radiographic or clinical characteristics after 10 years of real‐world follow‐up data were obtained.
Ariel B. Brickler, Manu S. Goyal, Robert C. McKinstry, David H. Gutmann, Jennifer L. Griffith   +4 more
wiley   +1 more source

Rhegmatogenous Retinal Detachment with Spontaneous Dialysis of the Ora Serrata in Neurofibromatosis Type 1: A Case Report

Journal of Nepal Medical Association, 2022
Neurofibromatosis type 1 is a genetic disorder that follows an autosomal dominant pattern of inheritance. Ocular involvement is not uncommon, but spontaneous dialysis of the retina in the absence of a history of trauma is a rare clinical entity.
Richa Makaju Shrestha, Swechha Bhatt, Pooja Shrestha, Prakash Sapkota, Rajani Keshari, Anu Manandhar, Iwa Bhattarai   +6 more
doaj   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

A case of familial neurofibromatosis in pediatric practice

Alʹmanah Kliničeskoj Mediciny, 2018
The article describes a  clinical case of familial neurofibromatosis. Neurofibromatosis type  1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin, T. N. Buchkova, G. I. Chebotareva, N. B. Styazhkina   +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

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

Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination

Case Reports in Gastrointestinal Medicine, 2012
Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix.
Tine Gregersen, Nanna Holt, Henning Gronbaek, Ida Vogel, Lars J. Jørgensen, Klaus Krogh   +5 more
doaj   +1 more source

Neurofibromatosis

Pediatric Neurology Briefs, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Painful tumors in a patient with neurofibromatosis type 1: a case report

Journal of Medical Case Reports, 2018
Background Herein, we report an unusual case of multifocal glomus tumors in the same hand in a patient suffering from neurofibromatosis type 1. Case presentation The patient was a 37-year-old Moroccan woman, suffering from neurofibromatosis type 1, with ...
Niema Aqil, Salim Gallouj, Kaoutar Moustaide, Fatima Zahra Mernissi   +3 more
doaj   +1 more source