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✍️Dr. Matthew Harb talks about neurofibromatosis
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Dr. Matthew Harb specializes in minimally invasive, muscle sparing, hip and knee replacement surgery. Minimally invasive surgery allows patients to recover faster and have less pain post operatively. Implants are tailored and custom fit to each patient to allow for improved performance. Dr. Harb’s expertise in rapid recovery protocols allow for quick recovery after surgery and excellent outcomes in patients with hip and knee arthritis. With minimally invasive, muscle sparing surgery patients can return to their lifestyles and get back to doing the things they love sooner. Dr. Harb performs outpatient joint replacement surgery with many of his patients walking independently and going home the day of surgery.

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Be alert to tumours of the gastrointestinal system in neurofibromatosis type 1.

Read the full Clinical Picture, Skin lesions indicate cause of acute gastrointestinal bleeding: neurofibromatosis type 1: https://www.thelancet.com/jour....nals/lancet/article/

Neurofibromatosis 1 (NF1), previously known as von Recklinghausen disease, is the most common type of NF. The hallmarks of NF1 are multiple café-au-lait macules and neurofibromas. The condition is called segmental NF1 when clinical features are limited to one area of the body due to somatic mosaicism of a pathogenic variant in the NF1 gene.

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Dan and Aidan share stories about getting through airport security as young men with visible signs of a disorder that not many people have heard of, neurofibromatosis type 1.

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To learn more about NF, go to ctf.org

For information about NF1 and the research being done at UW-Madison to discover more about this disorder, click here: https://news.wisc.edu/nf1/
- Bernadette Wood was born with a genetic disorder called neurofibromatosis type 1 (NF1). Her parents, Danielle and Jeff, knew the challenges they might face having a child born with the disease but they hope that as people become better aware of NF1, Bernadette can live a life like any other child.

A new research study published June 20 in Neuropathology and Applied Neurobiology found key biological differences between aggressive and more indolent, less harmful brain tumors that develop in neurofibromatosis type 1 (NF1) patients. NF1 is a genetic disorder that can predispose those affected to benign and cancerous nervous system tumors. “These findings may lead to better diagnostic/prognostic tests and insights into therapeutic targets,” says Fausto Rodriguez, M.D., senior author and professor of pathology. "We identified differences in global levels of microRNAs between high grade (aggressive) and low grade (more favorable) brain tumors that develop in neurofibromatosis type 1. One of the top microRNAs (miR-10b) was significantly increased in the aggressive tumors and promoted invasion in cultured brain tumor cells.” MicroRNAs are non-coding RNAs, transcribed from DNA but not translated into proteins, that play key roles in the regulation of gene expression.

Read the paper here: https://onlinelibrary.wiley.co....m/doi/abs/10.1111/na

Do you have a question about NF? 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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To enable Closed Captioning, click the CC button. Note that CTF is not a medical center, and we cannot give direct medical advice. This video series is for informational purposes only, and is not a replacement for diagnostic or medical care.

For the diagnosis of type 1 neurofibromatosis, two or more of the following clinical features must be present:

Six or more café-au-lait macules; in prepubertal children each macule must be more than 5 mm in greatest diameter, while in postpubertal 15 mm is the cut-off
Two or more neurofibromas of any type or one plexiform neurofibroma
Two or more Lisch nodules, which are Iris hamartomas.
Freckling in the axillary or inguinal regions
Optic glioma
Distinctive bony lesion
A first-degree relative with NF1 based upon the above criteria

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