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About 13,748 results

ALLMedicine™ Neurofibromatosis Center

Research & Reviews  6,787 results

Ocular biometric parameters changes and choroidal vascular abnormalities in patients wi...
https://doi.org/10.1371/journal.pone.0251098
PloS One; Vagge A, Corazza P et. al.

May 6th, 2021 - To analyze ocular biometric parameters alterations of the posterior pole and choroidal abnormalities in patients with neurofibromatosis type 1 (NF1) by adopting multimodal imaging, especially focusing on the role of novel diagnostic devices like s...

Rare neuroimaging findings in an adult neurofibromatosis type 1 patient.
https://doi.org/10.1017/cjn.2021.86
The Canadian Journal of Neurological Sciences. Le Journal... Hernandez MALU, Pascual JSG et. al.

May 5th, 2021 - Rare neuroimaging findings in an adult neurofibromatosis type 1 patient.|2021|Hernandez MALU,Pascual JSG,Chan KIP,Brillante EMB,Legaspi GD,|

Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions le...
https://doi.org/10.1371/journal.pgen.1009517
PLoS Genetics; Well L, Döbel K et. al.

May 5th, 2021 - Neurofibromatosis type-1 (NF1) patients suffer from cutaneous and subcutaneous neurofibromas (CNF) and large plexiform neurofibromas (PNF). Whole gene deletions of the NF1 gene can cause a more severe phenotype compared to smaller intragenic chang...

Trametinib therapy for children with neurofibromatosis type 1 and life-threatening plex...
https://doi.org/10.1002/cam4.3910
Cancer Medicine; Ronsley R, Hounjet CD et. al.

May 3rd, 2021 - To describe a series of children with extensive PNF or treatment refractory PLGG treated on a compassionate basis with trametinib. We report on six patients with NF-1 treated with trametinib on a compassionate basis at British Columbia Children's ...

Massive hemothorax in a pregnant patient with neurofibromatosis type 1.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086125
Journal of Cardiothoracic Surgery; Hashimoto K, Nomata Y et. al.

May 1st, 2021 - Reports of spontaneous hemothorax in patients with neurofibromatosis type 1 are scarce despite the severe complication. We herein present the first case of hemothorax in a neurofibromatosis type 1 patient during pregnancy and discuss the difficult...

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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  6,855 results

Ocular biometric parameters changes and choroidal vascular abnormalities in patients wi...
https://doi.org/10.1371/journal.pone.0251098
PloS One; Vagge A, Corazza P et. al.

May 6th, 2021 - To analyze ocular biometric parameters alterations of the posterior pole and choroidal abnormalities in patients with neurofibromatosis type 1 (NF1) by adopting multimodal imaging, especially focusing on the role of novel diagnostic devices like s...

Rare neuroimaging findings in an adult neurofibromatosis type 1 patient.
https://doi.org/10.1017/cjn.2021.86
The Canadian Journal of Neurological Sciences. Le Journal... Hernandez MALU, Pascual JSG et. al.

May 5th, 2021 - Rare neuroimaging findings in an adult neurofibromatosis type 1 patient.|2021|Hernandez MALU,Pascual JSG,Chan KIP,Brillante EMB,Legaspi GD,|

Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions le...
https://doi.org/10.1371/journal.pgen.1009517
PLoS Genetics; Well L, Döbel K et. al.

May 5th, 2021 - Neurofibromatosis type-1 (NF1) patients suffer from cutaneous and subcutaneous neurofibromas (CNF) and large plexiform neurofibromas (PNF). Whole gene deletions of the NF1 gene can cause a more severe phenotype compared to smaller intragenic chang...

Trametinib therapy for children with neurofibromatosis type 1 and life-threatening plex...
https://doi.org/10.1002/cam4.3910
Cancer Medicine; Ronsley R, Hounjet CD et. al.

May 3rd, 2021 - To describe a series of children with extensive PNF or treatment refractory PLGG treated on a compassionate basis with trametinib. We report on six patients with NF-1 treated with trametinib on a compassionate basis at British Columbia Children's ...

Massive hemothorax in a pregnant patient with neurofibromatosis type 1.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086125
Journal of Cardiothoracic Surgery; Hashimoto K, Nomata Y et. al.

May 1st, 2021 - Reports of spontaneous hemothorax in patients with neurofibromatosis type 1 are scarce despite the severe complication. We herein present the first case of hemothorax in a neurofibromatosis type 1 patient during pregnancy and discuss the difficult...

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 →