Results 31 to 40 of about 1,273 (212)

Comparing 3D imaging devices for the measurement of cutaneous neurofibromas in patients with Neurofibromatosis Type 1. [PDF]

Skin Res Technol
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, Fleming J, Good M, Lim A, Saunderson RB, Phan TA, Schlub T, Siow SF, Lacson N, Romo C, Blakely J, Bergqvist C, Berman YD.   +12 more
europepmc   +2 more sources

Heterozygous NF1 dermal fibroblasts modulate exosomal content to promote angiogenesis in a tissue‐engineered skin model of neurofibromatosis type‐1

Journal of Neurochemistry, Volume 167, Issue 4, Page 556-570, November 2023., 2023
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, Alexandre Paquet, Lydia Touzel‐Deschênes, Hélène T. Khuong, Nicolas Dupré, Francois Gros‐Louis   +5 more
wiley   +1 more source

Survival and long‐term socioeconomic consequences of childhood and adolescent onset of brain tumours

Developmental Medicine &Child Neurology, Volume 65, Issue 7, Page 942-952, July 2023., 2023
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, Katharina M. Main, Ulla Feldt‐Rasmussen, Astrid Sehested, René Mathiasen, Marianne Klose, Rikke Ibsen, Jakob Kjellberg, Poul Jennum   +8 more
wiley   +1 more source

Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Archives of Medical Science, 2019
Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care ...
Marek W. Karwacki, Mariusz Wysocki, Marta Perek-Polnik, Agnieszka Jatczak-Gaca   +3 more
doaj   +1 more source

Pediatric neurofibromatosis 1 and parental stress: a multicenter study [PDF]

, 2014
Background: Neurofibromatosis 1 (NF1) is a complex and multifaceted neurocutaneous syndrome with many and varied comorbidities. The literature about the prevalence and degree of maternal stress and the impact of NF1 in the parent–child interaction is ...
Carotenuto, M., Esposito, M, Gallai, B, Lavano, SM, Marotta, R, PARISI, Lucia, ROCCELLA, Michele   +6 more
core   +2 more sources

Pharmacology of inhibitors of Janus kinases – Part 2: Pharmacodynamics

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 12, Page 1621-1631, December 2022., 2022
Summary As small molecules, the Janus kinase inhibitors have different, dose‐dependent pharmacological binding selectivities, which, however, do not allow reliable statements about the clinical specificity of desired or side effects. It is therefore of particular importance to recognize that the pharmacodynamics of the individual Janus kinase ...
Adina Eichner, Johannes Wohlrab
wiley   +1 more source

Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1

Anais Brasileiros de Dermatologia, 2021
Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented ...
Luciana Pavan Antoniolli, Laura de Mattos Milman, Renan Rangel Bonamigo   +2 more
doaj   +1 more source

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism [PDF]

, 2014
Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism ...
Benavente, Yolanda, Benito-Aracil, Llúcia, Blanco Guillermo, Ignacio, Capellá, G. (Gabriel), Castellsagué, Joan, Fernández-Rodríguez, Juana, Lázaro García, Conxi, Serra Arenas, Eduard   +7 more
core   +2 more sources

Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1 [PDF]

, 1997
Objective. To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging. Design.
Cnossen, M.H. (Marjon), Cooiman, L.C.M.G. (Linda C. M. G.), Goede-Bolder, A. (Arja) de, Halley, D. (Dicky), Muinck Keizer-Schrama, S.M.P.F. (Sabine) de, Niermeijer, M.F. (Martinus), Oranje, A.P. (Arnold), Simonsz, H.J. (Huib), Stam, E.N. (Esther N.), Stroink, H. (Hans)   +9 more
core   +1 more source

Current whole-body MRI applications in the neurofibromatoses [PDF]

, 2016
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
Ahlawat, S, Blakeley, JO, Bredella, MA, Cai, W, Chhabra, A, Dombi, E, Evans, DG, Farschtschi, S, Fayad, LM, Hanemann, CO, Harris, GJ, Jacobs, MA, Khan, MS, Mautner, VF, Plotkin, SR, Salamon, JM, Wenzel, R   +16 more
core   +3 more sources