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About 400 results

ALLMedicine™ Schwannomatosis Center

Research & Reviews  150 results

Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in di...
https://doi.org/10.1002/ajmg.a.62860
American Journal of Medical Genetics. Part A; Merker VL, Slobogean B et. al.

Jun 10th, 2022 - Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can guide quality improvement initiatives. Using the National Academy of Medicine diagnostic framework, we assessed the extent of, and reasons ...

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannom...
https://doi.org/10.1016/j.gim.2022.05.007
Genetics in Medicine : Official Journal of the American C... Plotkin SR, Messiaen L et. al.

Jun 9th, 2022 - Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics,...

Neurofibromatosis Type 2 Imaging
https://emedicine.medscape.com/article/342667-overview

Jun 7th, 2022 - Practice Essentials Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are 3 clinically distinct tumor predisposition syndromes with a shared tendency toward development of peripheral and central nervous syst...

Neurofibromatosis Type 2 Imaging
https://emedicine.medscape.com/article/342667-print

Jun 7th, 2022 - Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are 3 clinically distinct tumor predisposition syndromes with a shared tendency toward development of peripheral and central nervous system neoplasms. Diseas...

Neurofibromatosis Type 2 Imaging
http://emedicine.medscape.com/article/342667-overview

Jun 7th, 2022 - Practice Essentials Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are 3 clinically distinct tumor predisposition syndromes with a shared tendency toward development of peripheral and central nervous syst...

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Guidelines  4 results

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...

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 17th, 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...

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 17th, 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)...

Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578359
Neurology Ahlawat S, Fayad LM et. al.

Aug 17th, 2016 - The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with ne...

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Clinicaltrials.gov  1 results

Immunotherapy Based on Antigen-specific Immune Effector Cells Targeting Neurofibromatosis or Schwannomatosis
https://clinicaltrials.gov/ct2/show/NCT04085159

Jun 12th, 2020 - Neurofibromatosis (NF) is caused by a genetic change that tends to develop benign tumors around nerves. NF is a lifelong condition that affects all populations equally, regardless of gender or ethnicity. Neurofibromatosis has been classified into ...

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News  2 results

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.

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Patient Education  3 results see all →