Results 1 to 10 of about 398 (106)

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

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia. [PDF]

Mov Disord
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Zhu R, Liu L, Estiar MA, Asayesh F, Ahmad J, Teferra M, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Jordanova A, Lee YC, Stevanin G, Zuchner S, Rouleau GA, Gan-Or Z.   +17 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

Validierung der deutschen Version des Fragebogens zur dermatologischen Lebensqualität von Säuglingen und Kleinkindern (InToDermQoL) [PDF]

J Dtsch Dermatol Ges
Zusammenfassung Hintergrund und Zielsetzung Hauterkrankungen können die Lebensqualität (quality of life; QoL) von pädiatrischen Patienten und ihren Familien erheblich beeinträchtigen. Der Fragebogen zur Lebensqualität in der Dermatologie bei Säuglingen und Kleinkindern (Infants and Toddlers Dermatology Quality of Life questionnaire; InToDermQoL) ist ...
Traxler J, da Silva Burger N, Augustin M, Ott H, Hoffmann S, Fölster‐Holst R, Baumeister M, Staubach P, Sommer R.   +8 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

Schwanoma de plexo braquial: relato de dois casos [PDF]

Arquivos de Neuro-Psiquiatria, 2004
Schwanomas, neurinomas ou neurilemomas são tumores benignos de nervos periféricos. Podem ocorrer em associação com a neurofibromatose tipo 2. Relatamos dois casos de tumor cervical originado em plexo braquial sem associação com neurofibromatose.
Manoel Baldoíno Leal Filho, Aline de Almeida Xavier Aguiar, Bruno Ribeiro de Almeida, Karoline da Silva Dantas, Marcelo Adriano da Cunha e Silva Vieira, Ricardo Keyson Paiva de Morais, Raimundo Gerônimo da Silva Júnior   +6 more
doaj   +1 more source

Percepção auditiva e desenvolvimento de linguagem oral após cirurgia de implante auditivo de tronco encefálico: uma revisão de escopo

Audiology: Communication Research, 2022
RESUMO Objetivo mapear as evidências atuais em relação à percepção auditiva da fala e desenvolvimento de linguagem oral em usuários de implante auditivo de tronco encefálico (auditory brainstem implant - ABI), para responder à seguinte questão ...
Vanessa Luisa Destro Fidêncio, Ingrid Moura de Jesus Pereira, Victoria Maia Rodrigues, Francisca Samara Freitas Oliveira, Maria Renata José   +4 more
doaj   +2 more sources

Neurofibromatosis: part 2 – clinical management

Arquivos de Neuro-Psiquiatria, 2015
Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors
Pollyanna Barros Batista, Eny Maria Goloni Bertollo, Danielle de Souza Costa, Lucas Eliam, Karin Soares Gonçalves Cunha, José Renan Cunha-Melo, Luiz Guilherme Darrigo Junior, Mauro Geller, Ingrid Faria Gianordoli-Nascimento, Luciana Gonçalves Madeira, Hérika Martins Mendes, Débora Marques de Miranda, Nikolas Andre Mata-Machado, Eric Grossi Morato, Érika Cristina Pavarino, Luciana Baptista Pereira, Nilton Alves de Rezende, Luíza de Oliveira Rodrigues, Jorge Bezerra Cavalcanti Sette, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin Martins, Eugênia Ribeiro Valadares, Paula Vieira Teixeira Vidigal, Vanessa Waisberg, Yehuda Waisberg, Luiz Oswaldo Carneiro Rodrigues   +27 more
doaj   +1 more source

IDENTIFICAÇÃO DE TRÊS CASOS DE SÍNDROME HIPEREOSINOFÍLICA MIELOPROLIFERATIVA ASSOCIADA A MUTAÇÃO GENÉTICA FIP1L1-PDGRα

Hematology, Transfusion and Cell Therapy, 2023
Objetivos: A Síndrome Hipereosinofílica (SHE) é definida como eosinofilia por mais de 6 meses sem outra causa clinicamente identificável. Sua variante mieloproliferativa está associada a uma pequena deleção no locus CHIC2, que causa fusão dos genes ...
NT Carmo, MEFD Santos, KRDE Almeida, CCVF Silva, GSS Silva, KS Queiroz, RQS Póvoas, RS Guerra, TCC Fonseca   +8 more
doaj   +1 more source