Results 11 to 20 of about 1,890 (196)

Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara [PDF]

Arquivos de Neuro-Psiquiatria, 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.
Andre Carvalho Felício, Clecio de Oliveira Godeiro-Junior, Vanderci Borges, Sonia Maria de Azevedo Silva, Henrique Ballalai Ferraz   +4 more
doaj   +3 more sources

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

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial. [PDF]

Dev Med Child Neurol
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16157 In this double‐blind, placebo‐controlled, randomized clinical trial, 31 adolescents with neurofibromatosis type 1 (NF1) were enrolled to test the effects of lamotrigine on cognitive functioning.
Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra A, Ramos FJ, Legius E, Moll HA, Elgersma Y, de Wit MY, ENCORE Expertise Center for NF1.   +13 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

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

Das Spektrum melanozytärer Nävi und deren klinische Bedeutung

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 4, Page 483-506, April 2022., 2022
Zusammenfassung Die Größe der Thematik melanozytärer Nävi (MN) steht in einem direkten Verhältnis zur Relevanz in der alltäglichen klinischen Arbeit. Die klinische Präsentation ist hochgradig variabel und verschiedene MN haben unterschiedliche prognostische Bedeutung in Bezug auf Komorbidität und mögliches Entartungsrisiko.
Nina Frischhut, Bernhard Zelger, Fiona Andre, Bettina Gudrun Zelger   +3 more
wiley   +1 more source

Ipsilateral Vestibular Schwannoma after Cochlear Implantation

Case Reports in Otolaryngology, Volume 2022, Issue 1, 2022., 2022
Objective. The vestibular schwannoma incidence rate is approximately 4.2 per 100,000/year. Thus far, about 700,000 cochlear implantations have been performed worldwide; therefore, the occurrence of vestibular schwannoma postcochlear implantations can be assumed to be infrequent.
S. Tüpker, N. Ay, L. U. Scholtz, H. B. Gehl, V. F. Mautner, P. Goon, H. Sudhoff, I. Todt, Toshihisa Murofushi   +8 more
wiley   +1 more source