Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Yoshinori Abe, MD (Internal Medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
Content updated on May 13, 2024
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Neurofibromatosis is a disorder that causes tumors to grow on nerves, the spinal cord, or the brain as well as areas outside the nervous system. The tumors are usually benign, but can occasionally become cancerous. There are 3 kinds of neurofibromatosis with different symptoms, and they are usually diagnosed in childhood or early adulthood. The disorder is caused by a gene mutation which is most often inherited, or can arise randomly during life.
Your doctor may ask these questions to check for this disease:
There is no cure for neurofibromatosis. However, the symptoms of neurofibromatosis can be managed. Tumors can be targeted with surgery, radiotherapy, and chemotherapy, while children's developmental progress is closely monitored.
Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021 May 29;22(11):5850. doi: 10.3390/ijms22115850. PMID: 34072574; PMCID: PMC8198724.
https://www.mdpi.com/1422-0067/22/11/5850Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016 Jun;5(2):98-104. doi: 10.1055/s-0036-1579766. Epub 2016 Mar 9. PMID: 27617150; PMCID: PMC4918700.
https://www.thieme-connect.com/DOI/DOI?10.1055/s-0036-1579766Korf BR. Neurofibromatosis. Handb Clin Neurol. 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. PMID: 23622184.
https://www.sciencedirect.com/science/article/abs/pii/B9780444528919000397?via%3DihubMale, 30s
I got more answers in one minute through your site than I did in three hours with Google.
(Sep 29, 2024)
Male, 20s
My experience was great. I was worried, but the symptom checker helped me narrow down what it might be. I feel a little relieved compared to when I first started, and it gives me a starting point for what my symptoms could mean.
(Sep 27, 2024)
Male, 50s
The questions asked and possible causes seemed spot on, putting me at ease for a next-step solution.
(Sep 26, 2024)
Female, 40s
I was actually very impressed with the results it provided because, although I didn’t mention it during the questionnaire because I thought it was unrelated, it suggested I may have something I’ve actually been diagnosed with in the past.
(Sep 25, 2024)
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Yoshinori Abe, MD (Internal Medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
Our symptom checker AI is continuously refined with input from experienced physicians, empowering them to make more accurate diagnoses.
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Ubie’s symptom checker demonstrated a Top-10 hit accuracy of 71.6%, surpassing the performance of several leading symptom checkers in the market, which averaged around 60% accuracy in similar assessments.
Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1