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🧠 Neurofibromatosis type 2

🖊 Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q.
🖊 It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
🖊 Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2.
🖊 Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).

🔎Source:
- Neurosurgery Board Review, Third Edition
- Neurofibromatosis type 2: A Review study

#MCQ #Neuroradiology
—————————————
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☑️ Email: brainet.neuroscience@gmail.com
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474 viewsJan 24 at 17:05

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Create: 2025-01-24
Last Update: 2025-03-06 14:17:58

🧠 Neurofibromatosis type 2

🖊 Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q.
🖊 It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
🖊 Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2.
🖊 Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).

🔎Source:
- Neurosurgery Board Review, Third Edition
- Neurofibromatosis type 2: A Review study

#MCQ #Neuroradiology
—————————————
📍 Join us in BRAINet
☑️ Telegram: @theBRAINet
☑️ Instagram: @theBRAINet
☑️ Email: brainet.neuroscience@gmail.com
☑️ Website: theBRAINet.org

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Telegram | DID YOU KNOW?

Date: 2025-03-06|

Ukrainian forces successfully attacked Russian vehicles in the capital city of Kyiv thanks to a public tip made through the encrypted messaging app Telegram, Ukraine's top law-enforcement agency said on Tuesday. Asked about its stance on disinformation, Telegram spokesperson Remi Vaughn told AFP: "As noted by our CEO, the sheer volume of information being shared on channels makes it extremely difficult to verify, so it's important that users double-check what they read." Telegram users are able to send files of any type up to 2GB each and access them from any device, with no limit on cloud storage, which has made downloading files more popular on the platform. The message was not authentic, with the real Zelenskiy soon denying the claim on his official Telegram channel, but the incident highlighted a major problem: disinformation quickly spreads unchecked on the encrypted app. 'Wild West'
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