Results 61 to 70 of about 24,619,681 (234)
Incidental Finding of Isolated Colonic Neurofibroma
Case Reports in Gastroenterology, 2013 Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla +3 more
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
Neurofibromatosis 2: a novel risk factor for hypertension?
, 2011 There are anecdotal reports of neurofibromatosis 2 (NF2) patients and vascular disease, but no previous studies have compared blood pressure (BP) in people with NF2 and in the general population.
Ferner, Rosalie +10 more
core +1 more source
Complete pain relief after bevacizumab in a patient with neurofibromatosis type 2 [PDF]
, 2015 Complete pain relief after bevacizumab in a patient with neurofibromatosis type
Attila Kollár (837642) +7 more
core +1 more source
Pulmonary hypertension associated with neurofibromatosis type 2
Pulmonary Circulation, 2021 Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi +9 more
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 +14 more
wiley +1 more source
Common Ocular Manifestations in Neurofibromatosis 2
, 2021 The aim of this study is to assess and define common ocular manifestations and their percentage in confirmed neurofibromatosis 2 cases to aid ophthalmologists in their practice. Background: Neurofibromatosis 2 (NF-2) is an autosomal dominant phakomatoses
Haya Razzouk; Varajini Joganathan; Ali Yagan; Prof. Gareth Evans
core
International Journal of Cancer, EarlyView.ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie +12 more
wiley +1 more source
The ocular presentation of neurofibromatosis 2 [PDF]
Eye, 1997 Neurofibromatosis 2 (NF2) is an inherited disorder characterised primarily by bilateral vestibular schwannomas and other central nervous system tumours. Individuals with NF2 also have early onset cortical and posterior subcapsular or capsular cataract and other ocular abnormalities, such as retinal hamartomas.
N K, Ragge +3 more
openaire +2 more sources
Familial Cancers Associated With Cancers of the Breast, Prostate, Colorectum, and Lung in Sweden
International Journal of Cancer, EarlyView.ABSTRACT Available epidemiological evidence shows that many cancers share familial risks, and this is increasingly confirmed by data on shared pathogenic germline gene variants between cancers. We decided to harness the world's largest resource on familial cancer to assess discordant familial risks for female breast (BC), prostate (PC), colorectal (CRC)
Frantisek Zitricky +5 more
wiley +1 more source