Results 61 to 70 of about 2,439 (246)

Challenges in staging and surveillance of patients with neurofibromatosis and cutaneous malignant melanoma

JPRAS Open, 2019
Summary: Malignant melanoma is a skin neoplasm with a rising trend of incidence. Positron Emission Tomography in combination with Computed Tomography (PET-CT) imaging is an essential diagnostic tool for both staging and surveillance of melanoma patients;
P.R. Chew, V.V. Toh, A. Kotwal
doaj   +1 more source

Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists

Orphanet Journal of Rare Diseases, 2022
Introduction The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors.
Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin, Justin T. Jordan   +6 more
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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

The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]

, 2015
Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P, Brasileiro, A, Diamantino, F, Paiva Lopes, MJ   +3 more
core  

Normal obstetric outcome in neurofibromatosis-1 complicating pregnancy [PDF]

, 2016
Neurofibromatosis (NF), a genetic disorder, has increased risk of obstetric complications as well as aggravation of maternal disease. However, here is a case of Neurofibromatosis associated with normal obstetric outcome despite the aggravation of ...
G.S., Anitha, Naik, Kusuma, V.R., Manjulatha   +2 more
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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  

Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et Neurofibromatose de Von Recklinghausen

The Pan African Medical Journal, 2016
Le syndrome de Usher est défini par l'association d''une surdité de perception congénitale de sévérité variable évolutive ou non et d'une rétinopathie pigmentaire progressivement cécitante. La Neurofibromatose de Von Recklinghausen ou Neurofibromatose de
Pépin-Williams Atipo-Tsiba
doaj   +1 more source

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool

Orphanet Journal of Rare Diseases, 2019
Background Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic features, and uncertainty about the ...
Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer, Pierre Wolkenstein, along with the French national network on rare skin diseases (FIMARAD)   +7 more
doaj   +1 more source

Quantitative Assessment of Whole-Body Tumor Burden in Adult Patients with Neurofibromatosis [PDF]

, 2012
Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance imaging (MRI) has limited ability to assess disease burden accurately.
Alona Muzikansky, Ara Kassarjian, BL Wu, CE Clauser, Conference NIH Consensus, DG Evans, DJ Waggoner, E Sbidian, FC Yang, G Deltas, G Otsuka, GA Rouleau, Gordon J. Harris, JA Biegel, JA Trofatter, JH Tonsgard, JJ Mulvihill, JM Friedman, K Cichowski, K North, Karl Herholz, KS Vogel, L Dugoff, Lance L. Munn, M Aghi, M Curto, M Giovannini, M Lammert, M MacCollin, M Ruggieri, M Upadhyaya, Manor Askenazi, ME Baser, ME Baser, ME McLaughlin, Miriam A. Bredella, Ralph Wenzel, RM Cawthon, Rosa Nguyen, SA Rasmussen, Scott R. Plotkin, SM Huson, Sonia Esparza, T Jacks, T Tucker, TA Duong, TJ Hulsebos, Vanessa L. Merker, VF Mautner, VF Mautner, Victor F. Mautner, W Cai, W Li, Wenli Cai   +53 more
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Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study

Clinical Epidemiology, 2019
Giorgio Tettamanti,1 Hanna Mogensen,1 Ann Nordgren,2,3 Maria Feychting11Institute of Environmental Medicine, Unit of Epidemiology, Karolinska Institutet, Stockholm, Sweden; 2Department of Molecular Medicine and Surgery, Center for Molecular Medicine ...
Tettamanti G, Mogensen H, Nordgren A, Feychting M   +3 more
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