Results 61 to 70 of about 55,376 (256)
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 +1 more
doaj
Neurofibromatosis type 1 and cardiac manifestations
Türk Kardiyoloji Derneği Arşivi, 2015 Objective: Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac abnormalities in patients with NF1.
Faruk İncecik +3 more
doaj +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources
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
Late-Onset Glioma with Neurofibromatosis Type 1
Pediatric Neurology Briefs, 2002 The frequency of symptomatic nonoptic pathway brain tumors in adolescents and adults known to have neurofibromatosis type 1 (NF1) was determined from the National Neurofibromatosis Foundation International Database (NNFFID) in a study at Washington ...
J Gordon Millichap
doaj +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 +3 more
wiley +1 more source
Journal of Medical Case Reports, 2012 Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu +5 more
doaj +1 more source
Composite pheochromocytoma associated with neurofibromatosis type 1
IJU Case Reports, 2023 Introduction Composite pheochromocytoma is a rare tumor, occurring in only 3% of pheochromocytomas. We report a case of composite pheochromocytoma with neurofibromatosis type 1.
Akira Tachibana +5 more
doaj +1 more source
Neuronavigational approach for orbital neurofibroma excision: a case report [PDF]
, 2015 Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires ...
CASCONE, PIERO +5 more
core +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 +14 more
wiley +1 more source