नवीनतम वीडियो


Kaleb H. Yohay, MD, provides insight on plexiform neurofibromas as they relate to neurofibromatosis type 1 and discusses tumor inoperability.
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Do you have a question about neurofibromatosis? Ask Kate! Kate Kelts, RN, BSN, is the Patient Support Coordinator for the Children's Tumor Foundation. Submit your question in the comments below, or email Kate at kkelts@ctf.org.
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This is a virtual blackboard outline of Café-au-lait spots found in conditions such as Neurofibromatosis Type 1 and McCune Albright Syndrome. I illustrate diagrams kindly donated from the PEIR resource for this open-access teaching session.
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Thanks to:
Dr Peter Anderson, curator of the PEIR resource at The University of Alabama, Birmingham who has kindly agreed for use of images as part of the open-access teaching programme established by “Doctor O’Donovan – Medicine Made Easy”.
References:
1. https://www.ctf.org/images/upl....oads/PossibleNF1_Caf
2. Plensdorf S, Martinez J (January 2009). "Common pigmentation disorders". American Family Physician. 79 (2): 109–16. PMID 19178061
3. Fitzpatrick's dermatology in general medicine (8th ed.). New York: McGraw-Hill Medical. pp. Chapter 141. ISBN 978-0-07-166904-7.
4. Morelli, JG (2013). CURRENT Diagnosis & Treatment: Pediatrics, 22e. New York, NY: McGraw-Hill. pp. Chapter 15: Skin. ISBN 978-0-07-182734-8.
5. https://emedicine.medscape.com..../article/911900-over
Disclaimer:
The video is intended as an educational resource only. The information within this video or on this channel isn't designed to replace professional input, so if you have any medical issues please consult a medical provider. No professional relationship is being created by watching this video. Dr. O’Donovan cannot give any individual medical advice. All information should be verified for accuracy by the individual user. Dr O’Donovan accepts no responsibility for individual interpretation of data, although it is always accurate to the best of his knowledge at the time of the video being published.


Espero les guste este video, especialmente a mi Doctor jaja.
Cualquier duda lo resuelvo en comentarios.
Bibliografía:
1. Mayo clinic. (2019, 5 febrero). Neurofibromatosis - Síntomas y causas - Mayo Clinic. Mayo clinic. https://www.mayoclinic.org/es-es/diseases- onditions/neurofibromatosis/symptoms-causes/syc-20350490#:%7E:text=La%20neurofibromatosis%20es%20un%20trastorno,m%C3%A9dula%20espinal%20y%20los%20nervios.
2. Torrentí, F. (18-05-17). La neurofibromatosis: una enfermedad dominante y recesiva. Genotipia. https://genotipia.com/neurofibromatosis/
3. Salas, J., De la Garza, R., & Cepeda, R. (2011, abril). Neurofibromatosis Tipo 1 (enfermedad de von Recklinghausen): reporte de 2 casos. Dermatología, 9(4), 268-271.
4. Gómez, M., & Batista, O. (2015). Neurofibromatosis tipo 1 (NF1) y su diagnóstico molecular como estrategia del diagnóstico diferencial y a edades tempranas. Revista Médica de Chile, 143, 1320-1330.
5. InfoMed. (11-04-11). Genetica » Mortalidad en la neurofibromatosis tipo I. InfoMEd. http://articulos.sld.cu/genetica/archives/1700
6. Imegen. (2020). Neurofibromatosis. imegen. https://imegen.es/informacion-....al-paciente/informac
7. Orphanet. (2018). Neurofibromatosis tipo 3. Orphanet. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=12482&Disease_Disease_Search_diseaseGroup=Schwannomatosis&Disease_Disease_Search_diseaseType=Pat&Enfermedad(es)/grupo%20de%20enfermedades=Neurofibromatosis-tipo-3&title=Neurofibromatosis%20tipo%203&search=Disease_Search_Simple
8. Orphanet. (2018). Neurofibromatosis tipo 2. Orphanet. https://www.stjude.org/es/cuid....ado-tratamiento/enfe
9. NINDS. (2010). Neurofibromatosis: National Institute of Neurological Disorders and Stroke (NINDS). NINDS. https://espanol.ninds.nih.gov/....trastornos/las_neuro
10. Childrens tumor fundation. (2010). ¿ACABA DE RECIBIR UN DIAGNÓSTICO DE NF2? INFORMACIÓN BÁSICA. Childrens tumor fundation.


Neurofibromatosis type 2, or NF2, is a hereditary condition that creates tumors in the central nervous system, affecting hearing and balance. Neurologist Ashok Asthagiri, MD, develops close relationships with his patients who travel to our clinic from around the country.
Learn more at https://uvahealth.com/services..../neurocutaneous/neur
ASHOK ASTHAGIRI: NF2, or Neurofibromatosis type 2, is a genetic condition that can be inherited. But for some folks, it is the first time that we are seeing it in the family. This condition leads to the development of multiple tumors on the covering of the brain inside the brain and spinal cord and also on the nerves that course through our body. Some patients with NF2 will simply have two tumors that primarily affect the balance nerves and can cause hearing loss. And it can go to the other end of the spectrum where patients have multiple tumors. Rather than just focusing
on one tumor at a time, we're thinking of it as a more holistic approach to what is most important at any given time. I heavily rely on partnerships that I have with our audiologists and otologists who are specialists who help me manage the balance nerve, tumors and hearing difficulties that patients with NF2 may have.
BRADLEY KESSER: As the otologist neurotologist, I see NF2 patients for evaluation of hearing and balance disorders. I follow their hearing with audiograms, more hearing tests, every year and we talk about hearing rehabilitation options whether it's just to sit tight and go as we have been doing or a hearing aid or possibly even cochlear implantation if both ears start declining over time. I also helped Dr. Asthagiri, the neurosurgeon, in the surgical management of patients with NF2, so, I will help him with the surgical dissection of the tumor trying our best to preserve the hearing and balance nerve so that we can preserve hearing and balance function.
STEVEN NEWMAN: About two thirds of patients will have posterior subcapsular cataracts so they can develop some eye problems in NF2. Those patients will then get referred to me for baseline so we know what their vision is, whether there is any evidence to increase intracranial pressure, whether their cranial nerves are working normally, whether they have a seventh nerve dysfunction so that we can see where they are now and we can follow them if they develop any other problems.
ASHOK ASTHAGIRI: How my patients do is not just an outcome measure or some data table. How my patients do is very personal to me. If I could describe my relationship with patients with NF2, it's intimate, and I think that's mutual. Growing together and having this care be a partnership I think really makes it much more fulfilling, number one and number two, it makes it much more effective.


Ayman talks about his experience living with neurofibromatosis Type 1.
The GSNV is proudly supported by a grant made possible by the Department of Health and Human Services, Victoria.
Videographer: http://albaprime.com/
DISCLAIMER: The words, views and opinions expressed in this podcast are personal, those of the interviewee/author, and should not be viewed as a reflection of the views and opinions of the GSNV, its staff, or committee. The interviewee/author accepts all responsibility for the content herewith.