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About 13,548 results

ALLMedicine™ Neurofibromatosis Center

Research & Reviews  6,687 results

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendati...
https://doi.org/10.1136/jmedgenet-2020-107627
Journal of Medical Genetics; Aronson M, Colas C et. al.

Feb 24th, 2021 - Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood. There is variability in age and presentation of cancers and benign ...

Efficacy of a Brief, Peer-Delivered Self-management Intervention for Patients With Rare...
https://doi.org/10.1001/jamapsychiatry.2020.4783
JAMA Psychiatry; Depping MK, Uhlenbusch N et. al.

Feb 24th, 2021 - Patients coping with rare diseases need psychosocial support. To evaluate the efficacy of a brief, transdiagnostic, peer-delivered intervention for patients with rare diseases in addition to care as usual (CAU) compared with CAU only. In this 2-gr...

Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriov...
https://doi.org/10.1136/bcr-2020-239880
BMJ Case Reports; Nishizawa T, Tsuchiya T et. al.

Feb 23rd, 2021 - We present the case of a 47-year-old woman with neurofibromatosis type 1 (NF1) with subarachnoid haemorrhage (SAH) from the left vertebral arteriovenous fistula, along with a review of previous cases. Our patient had a family history of NF1 and pr...

Paediatric bladder neurofibroma on bilateral ureterostomy: rare case report-strategic m...
https://doi.org/10.1136/bcr-2020-238296
BMJ Case Reports; Arunachalam P, Sen S et. al.

Feb 20th, 2021 - Urogenital involvement in neurofibromatosis is extremely rare and thus is less documented. Herein, we discuss a 11-year-old boy who was referred with a diagnosis of neurofibroma bladder on bilateral flank ureterostomy with mild renal failure. A di...

Rubeosis iridis and macular hemorrhages from multiple Corkscrew retinal vessels in a pa...
https://doi.org/10.1177/1120672121996636
European Journal of Ophthalmology; Márquez MA, Juárez CP et. al.

Feb 19th, 2021 - To report a case of a patient with NF1 presenting with ocular findings of AV malformation, multiple retinal hemorrhages, and neovascular glaucoma in the absence of retinal ischemia. Review of the medical record was conducted in accordance with the...

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Guidelines  13 results

Care of adults with neurofibromatosis type 1: a clinical practice resource of the Ameri...
https://doi.org/10.1038/gim.2018.28
Genetics in Medicine : Official Journal of the American C... Stewart DR, Korf BR et. al.

Jul 14th, 2018 - This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessaril...

Care of adults with neurofibromatosis type 1
http://www.acmg.net/PDFLibrary/Adult-Neurofibromatosis-Type-1.pdf
Stewart, D.,e t al

Jun 30th, 2018 - Neurofibromatosis type 1 (NF1) is an autosomaldominant disorder that is caused by a heterozygous loss-offunctionvariant in the tumor suppressor gene NF1; it affects~ 1/1,900–1/3,500 people worldwide. The disorder is associatedwith an 8–15-year red.

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Em...
https://doi.org/10.1093/neuros/nyx516
Neurosurgery Van Gompel JJ, Agazzi S et. al.

Jan 8th, 2018 - Adults with histologically proven or suspected vestibular schwannomas with neurofibromatosis type 2 (NF2). What is the role of bevacizumab in the treatment of patients with vestibular schwannomas? Level 3: It is recommended that bevacizumab be adm...

Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinica...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578357
Neurology Wolters PL, Martin S et. al.

Aug 16th, 2016 - Tumors and other disease complications of neurofibromatosis (NF) can cause pain and negatively affect physical functioning. To document the clinical benefit of treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs)...

Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578358
Neurology Plotkin SR, Davis SD et. al.

Aug 16th, 2016 - Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically imp...

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Drugs  3 results see all →

Clinicaltrials.gov  6,755 results

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendati...
https://doi.org/10.1136/jmedgenet-2020-107627
Journal of Medical Genetics; Aronson M, Colas C et. al.

Feb 24th, 2021 - Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood. There is variability in age and presentation of cancers and benign ...

Efficacy of a Brief, Peer-Delivered Self-management Intervention for Patients With Rare...
https://doi.org/10.1001/jamapsychiatry.2020.4783
JAMA Psychiatry; Depping MK, Uhlenbusch N et. al.

Feb 24th, 2021 - Patients coping with rare diseases need psychosocial support. To evaluate the efficacy of a brief, transdiagnostic, peer-delivered intervention for patients with rare diseases in addition to care as usual (CAU) compared with CAU only. In this 2-gr...

Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriov...
https://doi.org/10.1136/bcr-2020-239880
BMJ Case Reports; Nishizawa T, Tsuchiya T et. al.

Feb 23rd, 2021 - We present the case of a 47-year-old woman with neurofibromatosis type 1 (NF1) with subarachnoid haemorrhage (SAH) from the left vertebral arteriovenous fistula, along with a review of previous cases. Our patient had a family history of NF1 and pr...

Paediatric bladder neurofibroma on bilateral ureterostomy: rare case report-strategic m...
https://doi.org/10.1136/bcr-2020-238296
BMJ Case Reports; Arunachalam P, Sen S et. al.

Feb 20th, 2021 - Urogenital involvement in neurofibromatosis is extremely rare and thus is less documented. Herein, we discuss a 11-year-old boy who was referred with a diagnosis of neurofibroma bladder on bilateral flank ureterostomy with mild renal failure. A di...

Rubeosis iridis and macular hemorrhages from multiple Corkscrew retinal vessels in a pa...
https://doi.org/10.1177/1120672121996636
European Journal of Ophthalmology; Márquez MA, Juárez CP et. al.

Feb 19th, 2021 - To report a case of a patient with NF1 presenting with ocular findings of AV malformation, multiple retinal hemorrhages, and neovascular glaucoma in the absence of retinal ischemia. Review of the medical record was conducted in accordance with the...

see more →

News  75 results

FDA Drug Approvals, Neurology — 2020 Midyear Review
https://reference.staging.medscape.com/viewarticle/935195

Aug 13th, 2020 - Koselugo (selumetinib) Selumetinib is an inhibitor of mitogen-activated protein kinases 1 and 2 (MEK1/2). MEK 1/2 proteins are upstream regulators of the extracellular signal-related kinase (ERK) pathway. Inhibition of ERK phosphorylation is thoug...

FDA Drug Approvals, Neurology — 2020 Midyear Review
https://reference.medscape.com/viewarticle/935195

Aug 13th, 2020 - Koselugo (selumetinib) Selumetinib is an inhibitor of mitogen-activated protein kinases 1 and 2 (MEK1/2). MEK 1/2 proteins are upstream regulators of the extracellular signal-related kinase (ERK) pathway. Inhibition of ERK phosphorylation is thoug...

AstraZeneca-Merck genetic disorder treatment wins FDA nod
https://www.reuters.com/article/us-astrazeneca-fda/astrazeneca-merck-genetic-disorder-treatment-wins-fda-nod-idUSKCN21W0L1

Apr 14th, 2020 - FILE PHOTO: The company logo for pharmaceutical company AstraZeneca is displayed on a screen on the floor at the New York Stock Exchange (NYSE) in New York, U.S., April 8, 2019. REUTERS/Brendan McDermid/File Photo (Reuters) - The U.S. Food and Dru...

FDA Approves Koselugo for Pediatric Neurofibromatosis Treatment
https://www.medscape.com/viewarticle/928598

Apr 12th, 2020 - The Food and Drug Administration has approved selumetinib for the treatment of pediatric patients aged 2 years and older with type 1 neurofibromatosis (NF1) with symptomatic, inoperable plexiform neurofibromas. FDA approval was based on results fr...

Papules on trunk
https://www.mdedge.com/familymedicine/article/214482/dermatology/papules-trunk?channel=114
MDedge Family Medicine;

Dec 31st, 2019 - Dermatopathologic evaluation of the tissue sample indicated that the lesion was a neurofibroma, and clinical correlation fine-tuned the diagnosis to segmental neurofibromatosis (NF). The diagnosis of segmental NF is clinical, with biopsy to confir.

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Patient Education  15 results see all →