Results 11 to 20 of about 3,196 (199)

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case-Control Study. [PDF]

J Oral Pathol Med
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
de Pinho Montovani P, da Costa GPWM, Rozza-de-Menezes RE, Cunha KS.   +3 more
europepmc   +2 more sources

Assessing Executive Functions in Children With Developmental Dyslexia: A Comprehensive Approach. [PDF]

Dyslexia
ABSTRACT Developmental dyslexia (DD) is frequently associated with executive function (EF) deficits, particularly in inhibition, working memory and cognitive flexibility. This study assessed EF in 40 children with DD, aged 7–16, using both performance‐based tests and rating measures, and examined the role of co‐occurring attention deficit hyperactivity
Guerra A, Remaud J, Cadeau O, Charbonnier V, Dubrey MC, Proteau J, Daheron M, Le Roch M, Roulin JL, Fournet N, Le Gall D, Roy A.   +11 more
europepmc   +2 more sources

Trametinib in Adults with Neurofibromatosis Type 1-Related Symptomatic Plexiform Neurofibromas. [PDF]

Ann Neurol
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
Noordhoek DC, Hanff DF, French PJ, van Dijk SA, Wiemer EAC, Manintveld OC, van den Bent MJ, Taal W.   +7 more
europepmc   +2 more sources

Oral Levodopa Therapy, Vitamin B6 and Peripheral Neuropathy: A Cross-Sectional Observational Study. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 12, Issue 1, Page 120-122, January 2025.
Déry C, Buchmann C, Labrecque G, Caron V, Simonyan D, Blais M, Bouchard M, Dupré N.   +7 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

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

La neurofibromatose 1 [PDF]

médecine/sciences, 2001
La neurofibromatose 1 (NF1) est une maladie autosomique dominante qui atteint environ 1 individu sur 4 000. Le gene NF1 situe sur le chromosome 17 en q11.2 est constitue d’un domaine d’environ 335 kilobases et code pour une proteine de 2 818 acides amines, la neurofibromine. C’est un gene suppresseur de tumeur.
openaire   +1 more source

Pharmakologie der Januskinase‐Inhibitoren – Teil 2: Pharmakodynamik

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 12, Page 1621-1631, December 2022., 2022
Zusammenfassung Als niedermolekulare Substanzen haben die Januskinase‐Inhibitoren unterschiedliche, dosisabhängige pharmakologische Bindungsselektivitäten, die allerdings keine verlässlichen Aussagen über die klinische Spezifität gewünschter oder unerwünschter Wirkeffekte ermöglichen.
Adina Eichner, Johannes Wohlrab
wiley   +1 more source

Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara [PDF]

, 2007
BACKGROUND: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS.
Borges, Vanderci, Felício, André Carvalho, Ferraz, Henrique Ballalai, Godeiro-Junior, Clecio de Oliveira, Silva, Sonia Maria de Azevedo   +4 more
core   +2 more sources