Results 41 to 50 of about 87,754 (311)
Intrascrotal Solitary Neurofibroma [PDF]
Journal of Clinical and Diagnostic Research, 2020 A BSTRACT Solitary Neurofibroma of the scrotum is a rare benign tumour, particularly when it is not associated with neurofibromatosis Type I, hence, less number of cases have been reported in the English literature.
Abhishek Gupta, Suhas N Jajoo
doaj +1 more source
Neurofibromatosis type 2 and central neurofibromatosis [PDF]
Neurosurgical Focus, 1998 Neurofibromatosis type 2 (NF2) is a rare disease, affecting only approximately 1000 patients in the entire United States. The diagnosis requires the presence of bilateral acoustic neuromas, but many other tumors of the nervous system are also present. It is a very different disease from von Recklinghausen's neurofibromatosis, NF1.
openaire +2 more sources
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
MedCommNeurofibromatosis type 1 (NF1) is characterized by the development of benign plexiform neurofibromas (PNFs). In 10%–15% of patients, these tumors undergo malignant transformation into aggressive malignant peripheral nerve sheath tumors (MPNSTs).
Ling‐Ling Ge +11 more
doaj +1 more source
Benign retroperitoneal schwannoma presenting as colitis: A case report [PDF]
, 2007 We report a case of a patient presenting with clinical , radiological and endoscopic features of colitis due to a compressive left para-aortic mass.
Claes, Kathleen +7 more
core +2 more sources
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
SAGE Open Medicine, 2019 Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning.
Alice Heaney +6 more
doaj +1 more source
Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]
, 2019 Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh +76 more
core +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada
Orphanet Journal of Rare DiseasesBackground and objectives Neurofibromatosis type 1 (NF1) is a multisystemic disease, characterized by cutaneous manifestations and peripheral nerve sheath tumors.
Ajith Sivadasan +6 more
doaj +1 more source