Results 71 to 80 of about 971 (198)

Risk factors in pediatric Malignant Peripheral Nerve Sheath Tumors (MPNST): Results from the French Pediatric Oncology Society (SFCE) cohort

EJC Paediatric Oncology, 2023
Introduction: Malignant Peripheral Nerve Sheath Tumors (MPNST) are very rare and aggressive tumors, which can affect children, adolescents, and young adults. These tumors are frequently associated with type 1 neurofibromatosis (NF1).
Jordane Chaix, Marie Karanian, Nadège Corradini, Maria Merched, Frédérique Larousserie, Louise Galmiche, Brigitte Lacour, Aude Marie-Cardine, Anne-Sophie Defachelles, Pablo Berlanga, Angélique Rome, Estelle Thébaud, Valérie Bernier-Chastagner, Hervé J. Brisse, Frédéric Hameury, Pierre Wolkenstein, Stéphane Ducassou, Daniel Orbach, Cécile Vérité   +18 more
doaj   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Neurofibromatosis tipo I y Síndrome de Klippel-Trenaunay

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Se presenta un caso de asociación entre dos enfermedades que afectan la piel y otros órganos: Neurofibromatosis tipo I y Síndrome de Klippel-Trenaunay.
Sahily De la Paz Peña, Leonides Rojas Barly, Reynaldo Hugo Remond Vázquez   +2 more
doaj  

Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review

Neurology and Clinical Neuroscience, Volume 13, Issue 3, Page 165-173, May 2025.
ABSTRACT A class of hereditary diseases known as neurofibromatoses results in tumor growth on tissue from nerves. The spinal cord, nerves, and brain are among the parts of the nervous framework where these tumors can form. Similar to other genetic disorders, neurofibromatosis discloses complicated phenotypes, exhibiting varying benign and malignant ...
Hina Aslam, Inshal Jawed, Ali Farhan, Vikash Karmani, Agha Muhammad Wali Mirza, Farah Alam, Hina Khan, Abdul Haseeb, Mohammad Omer Alam, Javed Iqbal, Brijesh Sathian, Abu Huraira Bin Gulzar   +11 more
wiley   +1 more source

Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review

Archives of Plastic Surgery, 2018
Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults.
Dong Hwi Kim, Ji Sung Lee, Jong Weon Shin, Jean A Kim, Young Joon Jun   +4 more
doaj   +1 more source

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo‐controlled trial

Developmental Medicine &Child Neurology, Volume 67, Issue 4, Page 537-549, April 2025.
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.
Myrthe J. Ottenhoff, Sabine E. Mous, Jesminne Castricum, André B. Rietman, Rianne Oostenbrink, Thijs van der Vaart, Joke H. M. Tulen, Alba Parra, Federico J. Ramos, Eric Legius, Henriette A. Moll, Ype Elgersma, Marie‐Claire Y. de Wit, ENCORE Expertise Center for NF1, Walter Taal, Sarah van Dijk, Laura de Graaff, Yvette van Ierland, Margreethe van Vliet, Jeroen Legerstee, Pieter de Nijs, Maarten van Schijndel   +21 more
wiley   +1 more source

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

, 2014
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mito- gen-activated protein kinase (MAPK) pathway.
David H. Viskochil, Katherine A. Rauen, Rauen, Katherine A, Legius, E, Vikkula, Miikka, Gutmann, DH, Eric Legius, Ferner, Rosalie E, Patton, Michael, David H. Gutmann, Rauen, KA, Riccardi, Vincent M., Viskochil, David H., Kerr, Bronwyn, Michael Patton, Legius, Eric, Ferner, RE, Kerr, B, Susan M. Huson, Parada, LF, Vaart, Thijs, Farschtschi, S, Gutmann, David H, Bronwyn Kerr, Hanemann, C O, Patton, M, C. Oliver Hanemann, Viskochil, David H, Thijs van der Vaart, Emma Burkitt‐Wright, Rosalie E. Ferner, Luis F. Parada, Miikka Vikkula, Ratner, N, Burkitt-Wright, E, Peltonen, J, Nancy Ratner, Riccardi, V M, Vincent M. Riccardi, Huson, S M, Burkitt-Wright, Emma, D. Gareth Evans, Upadhyaya, M, Farschtschi, Said, Parada, Luis F, Hanemann, C Oliver, Gutmann, David H., Huson, Susan M, Juha Peltonen, Upadhyaya, Meena, Said Farschtschi, Martin Zenker, Huson, Susan M., van der Vaart, Thijs, Parada, Luis F., Rauen, Katherine A., Hanemann, C. Oliver, Ratner, Nancy, Riccardi, Vincent M, Zenker, M, Peltonen, Juha, Meena Upadhyaya, Zenker, Martin, Evans, D Gareth; id_orcid, Viskochi, D H, Vikkula, M, Evans, DG, Ferner, Rosalie E., Evans, D. Gareth   +68 more
core   +1 more source

Reporte de familias con neurofibromatosis y otras enfermedades genéticas Reports of families suffering from neurofibromatosis and other genetic disorders

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

Extracranial neurogenic tumors of the head and neck,

Brazilian Journal of Otorhinolaryngology, 2015
INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis.
Otávio Alberto Curioni, Ricardo Pires de Souza, Ana Maria da Cunha Mercante, Ana Carolina de Jesus, Alysson Pavelegeni, Rogério Aparecido Dedivitis, Abrão Rapoport   +6 more
doaj   +1 more source

Neurofibroma solitario en pared abdominal en paciente sin neurofibromatosis: reporte de caso

Biomédica: revista del Instituto Nacional de Salud, 2009
Introducción. Los neurofibromas solitarios son tumores benignos de carácter hereditario, que presentan variantes. Las manifestaciones clínicas cambian según su localización y, ocasionalmente, son similares a las de la neurofibromatosis.
Juan Sebastián Barajas, Ludwing Flórez Salamanca   +1 more
doaj   +1 more source