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About 6,318 results

ALLMedicine™ Neurofibromatosis Center

Research & Reviews  2,387 results

Human endogenous retrovirus type K promotes proliferation and confers sensitivity to an...
https://doi.org/10.1158/0008-5472.CAN-20-3857
Cancer Research; Maze EA, Agit B et. al.

Dec 3rd, 2021 - Deficiency of the tumour suppressor Merlin causes development of schwannoma, meningioma, and ependymoma tumours, which can occur spontaneously or in the hereditary disease neurofibromatosis type 2 (NF2). Merlin mutations are also relevant in a var...

Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
https://clinicaltrials.gov/ct2/show/NCT04888936

Nov 25th, 2021 - Study Description: The RASopathies are a clinically defined group of disorders caused by pathogenic germline variants in genes encoding components of the Ras/mitogen-activated-protein kinase (Ras/MAPK) pathway. These disorders have overlappin...

Halo traction combined with posterior-only approach correction for cervical kyphosis wi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609785
BMC Musculoskeletal Disorders; Zhang H, Deng A et. al.

Nov 25th, 2021 - Surgical management of cervical kyphosis in patients with NF-1 is a challenging task. Presently, anterior-only (AO), posterior-only (PO) and combined anterior-posterior (AP) spinal fusion are common surgical strategies. However, the choice of surg...

Variations and natural history of primary intraparenchymal lesions associated with neur...
https://doi.org/10.1007/s00234-021-02809-5 10.1016/S0140-6736(09)60259-2 10.1016/j.nicl.2013.12.010 10.1038/bmt.2012.244 10.1136/archdischild-2017-313154 10.1016/j.pediatrneurol.2018.05.006 10.1259/bjr/56536580 10.1007/BF00294370 10.1093/neuonc/nos129 10.1016/j.wneu.2021.06.139 10.1007/s00234-006-0112-1
Neuroradiology Ishi Y, Harada T et. al.

Nov 24th, 2021 - The study aimed to investigate the clinical implications and natural history of primary intraparenchymal lesions in patients with neurofibromatosis type 2. Radiological findings of 15 neurofibromatosis type 2 cases were retrospectively collected. ...

PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN)
https://clinicaltrials.gov/ct2/show/NCT02390752

Nov 24th, 2021 - Background Traditional therapeutic approaches to pediatric cancer have focused on cytotoxic agents and, more recently, targeted inhibition of cellular signaling pathways through the use of small molecule kinase inhibitors. Despite these interventi...

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Guidelines  8 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 15th, 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...

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on th...
https://doi.org/10.1093/neuros/nyx515
Neurosurgery Germano IM, Sheehan J et. al.

Jan 9th, 2018 - What are the indications for stereotactic radiosurgery (SRS) treatment vs observation for patients with intracanalicular vestibular schwannomas without evidence of radiographic progression? Level 3: If tinnitus is not observed at presentation, it ...

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines on Su...
https://doi.org/10.1093/neuros/nyx512
Neurosurgery Hadjipanayis CG, Carlson ML et. al.

Jan 9th, 2018 - What surgical approaches for vestibular schwannomas (VS) are best for complete resection and facial nerve (FN) preservation when serviceable hearing is present? There is insufficient evidence to support the superiority of either the middle fossa (...

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 9th, 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...

Neurocognitive outcomes in neurofibromatosis clinical trials: Recommendations for the d...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578356
Neurology Walsh KS, Janusz J et. al.

Aug 17th, 2016 - Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitive endpoi...

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Drugs  2 results see all →

Clinicaltrials.gov  51 results

Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
https://clinicaltrials.gov/ct2/show/NCT04888936

Nov 25th, 2021 - Study Description: The RASopathies are a clinically defined group of disorders caused by pathogenic germline variants in genes encoding components of the Ras/mitogen-activated-protein kinase (Ras/MAPK) pathway. These disorders have overlappin...

PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN)
https://clinicaltrials.gov/ct2/show/NCT02390752

Nov 24th, 2021 - Background Traditional therapeutic approaches to pediatric cancer have focused on cytotoxic agents and, more recently, targeted inhibition of cellular signaling pathways through the use of small molecule kinase inhibitors. Despite these interventi...

HIFU Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1: Safety and Efficacy
https://clinicaltrials.gov/ct2/show/NCT05119582

Nov 15th, 2021 - The overall objective is to demonstrate safety and efficacy of HIFU treatment of cutaneous neurofibromas located close to the surface of the skin in patients with the genetic disease Neurofibromatosis Type 1. The study will use a new investigation...

Intermittent Dosing Of Selumetinib In Childhood NF1 Associated Tumours
https://clinicaltrials.gov/ct2/show/NCT03326388

Nov 12th, 2021 - Neurofibromatosis type 1 (NF1) is a common autosomal dominant, progressive disorder with an incidence of 1 in 3,500 of the population. NF1 is characterized by diverse, progressive cutaneous, neurological, skeletal and neoplastic manifestations wit...

Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (PNs)
https://clinicaltrials.gov/ct2/show/NCT02544022

Nov 12th, 2021 - Background: Neurofibromatosis 1 (NF1) is a genetic disease with multiple clinical manifestations, including plexiform neurofibromas (PN) that can cause pain and may significantly impact daily functioning and quality of life (QOL). Patient-reported...

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News  68 results

Evaluations of novel approaches to treating NF-1 tumors are underway
https://www.mdedge.com/dermatology/article/248079/pediatrics/evaluations-novel-approaches-treating-nf-1-tumors-are-underway
Doug Brunk

Oct 29th, 2021 - In the clinical experience of R. Rox Anderson, MD, currently available treatment options for benign tumors caused by neurofibromatosis type 1 (NF-1) are not acceptable.

CIN Prophylaxis: Treating With G-CSFs
https://www.onclive.com/view/cin-prophylaxis-treating-with-g-csfs

Oct 19th, 2021 - Hope S. Rugo, MD, FASCO: It’s interesting to talk about this. It leads nicely into our next section, which is talking about our current standards of care for chemotherapy-induced neutropenia. We’ve talked about some of the issues, but I want to ge...

Soft Nodule on the Forearm
http://www.mdedge.com/dermatology/article/247327/dermatopathology/soft-nodule-forearm
Syeda F. Absar, MD, MPH, Tammie C. Ferringer, MD

Oct 13th, 2021 - The Diagnosis: Schwannoma Schwannoma, also known as neurilemmoma, is a benign encapsulated neoplasm of the peripheral nerve sheath that presents as a subcutaneous nodule. 1 It also may present in the retroperitoneum, mediastinum, and viscera (eg, g.

Soft Nodule on the Forearm
https://www.mdedge.com/dermatology/article/247327/dermatopathology/soft-nodule-forearm
Syeda F. Absar, MD, MPH, Tammie C. Ferringer, MD

Oct 13th, 2021 - The Diagnosis: Schwannoma Schwannoma, also known as neurilemmoma, is a benign encapsulated neoplasm of the peripheral nerve sheath that presents as a subcutaneous nodule. 1 It also may present in the retroperitoneum, mediastinum, and viscera (eg, g.

A female toddler presents with an itchy yellow nodule
https://www.mdedge.com/pediatrics/article/246672/dermatology/female-toddler-presents-itchy-yellow-nodule
MDedge Pediatrics; Lawrence Eichenfield, MD, Elana Kleinman

Oct 1st, 2021 - Juvenile xanthogranuloma (JXG) is a benign disorder presenting as firm, yellow-red skin papules or nodules, usually in infancy or early childhood. It derives its name based on its yellowish color and the histologic finding of lipid-filled histiocy.

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Patient Education  11 results see all →