ALLMedicine™ Neurofibromatosis Center

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...

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

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...

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 ...

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...

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...

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.

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...

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)...

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...

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...

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

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...

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 ...

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...

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...

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...

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...

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...

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.