Results 61 to 70 of about 44,772 (247)

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

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

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis [PDF]

, 2016
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer ...
Cohen, Philip R
core   +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

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

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

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

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

, 2011
Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Barbara Goeggel Simonetti, Fleischhauer, Johannes M.C., Kevin Wingeier, Miriam Diepold, Johannes Fleischhauer, Schindera, Christina, Maja Steinlin, Claude B. Nauer, Diepold, Miriam, Christina Schindera, Nauer, Claude B, Goeggel Simonetti, Barbara, Steinlin, Maja, Wingeier, Kevin   +13 more
core   +1 more source