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This video on NF 1,2, and McCune-Albright Syndrome is intended for educational purposes only. Consult with your healthcare provider with any related concerns.
Awesome video on neurofibromatosis (NF) 1 and 2, along with McCune-Albright Syndrome. We look at the genetics behind NF 1 and 2, along with super cool mnemonics to remember the clinical presentations of each of them. The video ends with a quick comparison of McCune-Albright Syndrome. The video discusses Cafe Au Lait spots, brain neoplasms, lisch nodules, and other symptoms that present in their given subtypes.
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Happy Studies :)
These images demonstrate bilateral small enhancing masses in the internal auditory canals compatible with vestibular schwannomas, a characteristic feature of Neurofibromatosis Type 2. In addition, there are enhancing masses in the right Meckel’s cave and left Cavernous sinus, both of which are likely additional schwannomas. In the spine, we see a cystic faintly enhancing lesion near the conus which most likely represents an ependymoma. NF-2 is also known as MISME or multiple inherited schwannomas, meningiomas, and ependymomas. The differential for isolated bilateral masses of the IACs should include metastasis in patient with a history of cancer or granulomatous diseases such as Sarcoidosis.
DB NMR 13
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A simple animated video about Neurofibromatosis Type 1 (NF1), a genetic condition that causes lumps to grow on the nerves. We explain why it occurs, the main signs, the complications to be aware of, and how it is managed.
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Chapters:
0:00 Intro
0:36 Features of NF1
2:19 Managing NF1
REFERENCES:
Evans D G, Howard E, Giblin C, Clancy T, Spencer H, Huson S M & Lalloo F (2010) Birth incidence and prevalence of tumour-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A: 2010 Feb; 152A (2):327-32. Doi: 10.1002/ajmg.a.33139
https://www.ncbi.nlm.nih.gov/pubmed/20082463
Ferner R., Huson S., Thomas N., Moss C., Willshaw H., Evans G., Upadhyaya M., Towers R., Gleeson M., Steiger C. & Kirby A. (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics 44, 81–88. 10.1136/jmg.2006.045906 https://www.ncbi.nlm.nih.gov/pubmed/17105749
The script for this HealthSketch including full reference list can be accessed from the following link: https://drive.google.com/file/....d/1xt_CDCrYCaKjHDUgD
This video was developed with the Childhood Tumour Trust (CTT), with special thanks to Dr Carly Jim, Manchester Metropolitan University and Vanessa Martin, CTT
http://childhoodtumourtrust.org.uk
PLEASE NOTE:
1. Online support groups vary in terms of their accuracy of information and the overall experience. CTT cannot comment on the acceptability of groups not affiliated to CTT.
2. Information is accurate at time of production and has been approved by the CTT medical board, but no responsibility can be taken for decisions made following watching this, if you have any concerns please seek medical advice.
ABOUT US: For more information about HealthSketch, please visit:
Website: http://www.health-sketch.com/
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Twitter: https://twitter.com/health_sketch
Whiteboard Animation by Russ Law: russ@russlaw.co.uk
Together, Jessica, Laurel, Victoria and Karen bond and support one another in their journey with living with this rare disease. Donate at https://nf2biosolutions.org/donate (more options below)
In January 2020,these 4 young girls met for the first time. They had been socializing online for a year but were keen to meet in person, so they became the official cheerleading squad for the NF2 BioSolutions team in the Walt Disney World Marathon, and literally from all different parts of the world they were united together at the marathon starting line. During this visit, the girls had the incredible opportunity to meet in person the very talented and dedicated scientists/researchers that are fighting so hard behind the scenes in their own marathon to develop a gene therapy cure. If these researchers ever needed reminding of the importance of their work, then these four girls did just that.
Tragically, these four friends collectively have over 50 tumours, and that’s just the ones reported on MRIs. There are most likely many more tumours growing on their nervous system undetected – until they start to cause clinical problems – by which time it is often too late to prevent permanent nerve damage.
Please help us accelerate a cure together. To donate please go to:
- Facebook fundraiser: https://www.facebook.com/donate/695034994732797 OR
- USA residents can donate to NF2 BioSolutions US: https://nf2biosolutions.org/donate/ OR
- Canadian residents can donate at KBF Foundation (on behalf of NF2 BioSolutions): https://www.kbfcanada.ca/en/pr....ojects/ending-nf2-th
- UK residents can donate to NF2 BioSolutions UK: https://nf2biosolutions.org/nf2-biosolutions-uk/
*All of the above will issue you charitable tax receipts.*
Special thanks to Jamie Urman (camera), Cray Novick (camera/edit) and Karl Rausch (edit) that volunteered to film and edit this video.
The conversation with McKinnon and Laura continues as they talk about dating and relationships! This is the third in a three-part conversation with McKinnon and Laura about living with neurofibromatosis type 2.
McKinnon and Laura Part 1: https://youtu.be/xKPrFiFS4bM
McKinnon and Laura Part 2: https://youtu.be/WqfgJWFrbZM
Click the CC button to enable Closed Captions.
Click below to subscribe and catch all the Tumor Talk episodes, which are posted every Tuesday throughout March and April, 2020:
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Camille Thoms lives with neurofibromatosis type 2, or NF2. Despite incredibly difficult struggles including partial hearing and vision loss, Camille has a beautiful and courageous spirit that shines through. Each year her family hosts an event to raise funds for NF research, and this video was first played as part of the Children's Tumor Foundation Halloween Bash on October 24, 2020.
For Closed Captioning, click the CC button.
To learn more or donate to this important cause, please go to:
https://join.ctf.org/campaign/....general-donations/c1
