Results 51 to 60 of about 87,754 (311)
An innovative resection of giant neurofibromas
Chinese Journal of Plastic and Reconstructive SurgeryBackground: Plexiform neurofibromas (PNF) are highly vascular tumors with the potential for significant growth. Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.
Zhichao Wang +7 more
doaj +1 more source
Somatostatinoma of the Vater's papilla in a patient with von Recklinghausen's disease [PDF]
Vojnosanitetski Pregled, 2007 Background. Somatostatinomas of the gastrointestinal tract secret hormone somatostatin which can cause "inhibitory syndrome" comprising diabetes mellitus, cholelithiasis and steatorrheic diarrhea.
Čolović Radoje +3 more
doaj +1 more source
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
SCOLIOSIS AND NEUROFIBROMATOSIS [PDF]
The Journal of Bone and Joint Surgery. British volume, 1965 1. Analysis of eighty-one patients with neurofibromatosis showed that sixty-two (76 per cent) had café-au-lait markings; 12 per cent had significant spinal deformity. 2. Thirty-three examples of spinal deformity in neurofibromatosis showed a wide variety of patterns and severity of the adult curve.
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]
, 2018 The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep +2 more
core +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Journal of Medical Case Reports, 2012 Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu +5 more
doaj +1 more source
Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]
, 2016 This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core +1 more source
Voice characteristics in adults with neurofibromatosis type 1 [PDF]
, 2010 Introduction and aims of the study: Change or loss of voice in patients with neurofibromatosis type 1 (NF1) has been associated with head and neck neurofibromas.
Corthals, Paul +4 more
core +2 more sources