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Vestibular schwannoma: role of conservative management [PDF]
, 2010 Objective: To assess the outcome of conservative management of vestibular schwannoma.Study design: Observational study. Setting: Tertiary referral centre.Patients: Four hundred and thirty-six patients with vestibular schwannoma (490 tumours), including ...
Aggarwal, R +7 more
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Presenting Symptoms of Neurofibromatosis Type 2
Pediatric Neurology Briefs, 1999 The frequency and mode of presentation of neurofibromatosis type 2 (NF2) was investigated at St Mary’s Hospital, the Royal Manchester Children’s Hospital, and the Manchester Royal Infirmary, Manchester, UK.
J Gordon Millichap
doaj +1 more source
iScience, 2022 Summary: Neurofibromatosis type 2 is an autosomal dominant multiple neoplasia syndrome and is usually caused by mutations in the neurofibromin 2 (NF2) gene, which encodes a tumor suppressor and initiates the Hippo pathway. However, the mechanism by which
Zexiao Jia +18 more
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Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
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Anaesthetic Management of a Child with Neurofibromatosis Type 2 for Multiple Tumour Decompressions [PDF]
Journal of Clinical and Diagnostic Research, 2013 Neurofibromatosis type 2 is a genetic disorder with autosomal dominant pattern. It can manifest as intracranial, spinal, ocular and cutaneous lesions. The lesions can extend to all the systems.
Geetha Lakshiminarasimhaiah +4 more
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Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations
Indian Journal of Neurosurgery, 2022 Introduction Neurofibromatosis type 2 (NF2) also known as MISME syndrome stands for multiple inherited schwannomas, meningiomas, and ependymomas in the peripheral and central nervous system.
Ashok Gandhi +4 more
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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 +3 more
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Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]
, 2014 BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M +10 more
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Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis
Journal of Obstetric Anaesthesia and Critical Care, 2014 Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh +4 more
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Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
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