A unique case of hereditary bilateral segmental neurofibromatosis on the face Neurofibromatose segmentar bilateral hereditária da face: caso único [PDF]
Segmental neurofibromatosis is a rare clinical finding generally with no family history and facial involvement. There are four subtypes of segmental neurofibromatosis: true segmental, localized cases with deep involvement, hereditary segmental and ...
Irena Jankovic +4 more
doaj +2 more sources
Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France [PDF]
Background Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited.
Hadj-Rabia Smaïl +12 more
doaj +9 more sources
Current whole-body MRI applications in the neurofibromatoses [PDF]
ObjectivesThe 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
Shivani Ahlawat +99 more
openalex +5 more sources
An Unexplored Diversity for Adaptation of Germination to High Temperatures in <i>Brassica</i> Species. [PDF]
ABSTRACT Elevated temperatures inhibit the germination of a concerning number of crop species. One strategy to mitigate the impact of warming temperatures is to identify and introgress adaptive genes into elite germplasm. Diversity must be sought in wild populations, coupled with an understanding of the complex pattern of adaptation across a broad ...
Tiret M +10 more
europepmc +2 more sources
Comparing 3D imaging devices for the measurement of cutaneous neurofibromas in patients with Neurofibromatosis Type 1. [PDF]
Abstract Background Cutaneous neurofibromas (cNFs) are a major cause of disfigurement in patients with Neurofibromatosis Type 1 (NF1). However, clinical trials investigating cNF treatments lack standardised outcome measures to objectively evaluate changes in cNF size and appearance.
Lau JCL +12 more
europepmc +2 more sources
Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F +21 more
core +5 more sources
A systematic review of recent and ongoing clinical trials in patients with the neurofibromatoses [PDF]
INTRODUCTION: The neurofibromatoses comprise three different genetic conditions causing considerable morbidity and mortality: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN).
Acar, Simge +3 more
core +2 more sources
In this study, we investigated the influence of dermal fibroblast in modifying the surrounding microenvironment. Neovascularization plays a crucial role in neurofibromas formation, growth, and malignant transformation. Using NF1‐derived tissue‐engineered skins, we showed that NF1 heterozygosity in human dermal fibroblasts promoted angiogenesis through ...
Vincent Roy +5 more
wiley +1 more source
Report of an Uncommon Case of Huge Neurofibroma in the Buccal Mucosa
Objectives Neurofibroma (solitary or multiple) is a benign neurogenic jaw tumor with peripheral nerve origin. It is commonly found in the skin and the head and neck region but its occurrence in the oral cavity is rare.
Fatemeh Mashhadiabbas +2 more
doaj +1 more source
Survival and long‐term socioeconomic consequences of childhood and adolescent onset of brain tumours
Abstract Aim To evaluate survival distributions, long‐term socioeconomic consequences, and health care costs in patients with childhood and adolescent onset of brain tumours in a Danish nationwide prospective cohort study. Method A search of national registries identified 2283 patients (1198 males, 1085 females; mean age 9 years 6 months [SD 5 years 7 ...
Line Pickering +8 more
wiley +1 more source

