Results 31 to 40 of about 54,719 (217)

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation. [PDF]

Clin Case Rep
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Raza MH, Asif H, Anjum S, Shahid Z, Mubarika M, Anjum A, Shakeel HA, Chhetri R, Khawar M.   +8 more
europepmc   +2 more sources

Type 1 neurofibromatosis with periodontal manifestations

Indian Journal of Dental Sciences, 2016
Neurofibromatosis type 1 (NF1) also known as von Recklinghausen's disease is an autosomal dominant disease transmitted with a high degree of penetrance. The disease is expressed in different forms.
Pramod Kumar, Akshay Dhobley, Harshal Kumar, Sandeep Jain   +3 more
doaj   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

Neurofibromatosis type 1

, 2015
Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is a neurogenetic disorder distinct from neurofibromatosis type 2 (NF2). Approximately 1:2500 to 1:3500 individuals worldwide are affected, regardless of ethnicity or race.
Jacqueline L, Anderson, David H, Gutmann
  +5 more sources

Plexiform neurofibromatosis type 1

Indian Journal of Medical Research, 2016
A 16 yr old boy presented to the department of Medicine, All India Institute of Medical Sciences (AIIMS), New Delhi, India, in 2013 with primary cosmetic concern about swelling in the left upper limb which was progressively increasing over the last few years.
Sharma, Surendra K., Sharma, Abhishek
openaire   +2 more sources

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

, 2017
Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina, Gao, Feng, Gutmann, David H, Morris, Stephanie M   +3 more
core   +2 more sources

Statins, bone, and neurofibromatosis type 1

BMC Medicine, 2008
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia.
Korf Bruce R
doaj   +1 more source

Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano, Alexander Yelak, Walid Kaadan, Shlomo Caduri, Rivka Friedland, Orli Michaeli, Gad Dotan, Osnat Konen   +7 more
wiley   +1 more source

A multicenter study of neurofibromatosis type 1 utilizing deep learning for whole body tumor identification

npj Digital Medicine
Deep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body
Cheng-Jiang Wei, Yan Tang, Yang-Bai Sun, Tie-Long Yang, Cheng Yan, Hui Liu, Jun Liu, Jing-Ning Huang, Ming-Han Wang, Zhen-Wei Yao, Ji-Long Yang, Zhi-Chao Wang, Qing-Feng Li   +12 more
doaj   +1 more source

Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature [PDF]

, 2012
Introduction Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms.
Saoraya Lueangarun, Chirayu U Auewarakul
core   +1 more source