At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study
| العنوان: | At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study |
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| المؤلفون: | Sébastien Barbarot, Patrick Combemale, Alain Drouet, Laurence Valeyrie-Allanore, Pierre Brugière, Salah Ferkal, Emilie Sbidian, Pierre Wolkenstein, Sylvie Bastuji-Garin, Cédric Vialette, Jean Pascal Lefaucheur |
| المساهمون: | Laboratoire d'Investigation Clinique (LIC), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Pôle Recherche Clinique-Santé Publique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre de référence des Neurofibromatoses, CIC - CHU Henri Mondor, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de physiologie, explorations fonctionnelles [Mondor], Excitabilité nerveuse et thérapeutique (ENT), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-EA 4391, Service de Physiologie Explorations Fonctionnelles-Hôpital Henri Mondor, Service de Neurologie, Hôpital d'Instruction des armées, Service de Dermatologie, Centre Léon Bérard [Lyon], Service de Neuroradiologie, Unité de recherche clinique, Réseau NF-Rhône-Alpin, CHU Hotel Dieu, Grant from the Programme Hospitalier de Recherche Clinique (PHRC, AOM05116/P051014), Ministry of Health., Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), BMC, Ed. |
| المصدر: | Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.51. ⟨10.1186/1750-1172-6-51⟩ ResearcherID Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 51 (2011) |
| بيانات النشر: | Springer Nature |
| مصطلحات موضوعية: | Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Nerve root, lcsh:Medicine, [SDV.GEN] Life Sciences [q-bio]/Genetics, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Subcutaneous Tissue, Internal medicine, medicine, Neurofibroma, Humans, Genetics(clinical), Pharmacology (medical), Prospective Studies, Neurofibromatosis, Prospective cohort study, Genetics (clinical), 030304 developmental biology, Medicine(all), 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Research, lcsh:R, Case-control study, Peripheral Nervous System Diseases, General Medicine, Middle Aged, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Radiography, medicine.anatomical_structure, Peripheral neuropathy, Phenotype, Case-Control Studies, Female, Sciatic nerve, business, 030217 neurology & neurosurgery |
| الوصف: | Objectives To assess associations between subcutaneous neurofibromas (SC-NFs) and internal neurofibromas in patients with neurofibromatosis type 1 (NF-1) and to determine whether the association between SC-NFs and peripheral neuropathy was ascribable to internal neurofibromas. Patients and methods Prospective multicentre case-control study. Between 2005 and 2008, 110 NF-1 adults having two or more SC-NFs were individually matched for age, sex and hospital with 110 controls who had no SC-NF. Patients underwent standardized MRI of the spinal cord, nerve roots and sciatic nerves and an electrophysiological study. Analyses used adjusted multinomial logistic regression (ORa) to estimate the risk of the presence of internal neurofibromas or peripheral neuropathies associated with patients presented 2 to 9 SC-NFs, at least 10 SC-NFs as compared to patients without any (referential category). Results Cases had a mean age of 41 (± 13) years; 85 (80%) had two to nine SC-NFs and 21 (19%) at least ten SC-NFs. SC-NFs were more strongly associated with internal neurofibromas in patients with ten or more SC-NFs than in patients with fewer NF-SCs (e.g., sciatic nerve, aOR = 29.1 [8.5 to 100] vs. 4.3 [2.1 to 9.0]). The association with SC-NFs was stronger for diffuse, intradural, and > 3 cm internal neurofibromas than with other internal neurofibromas. Axonal neuropathy with slowed conduction velocities (SCV) was more strongly associated with having at least ten SC-NFs (aOR = 29.9, 5.5 to 162.3) than with having fewer SC-NFs (aOR = 4.4, 0.9 to 22.0). Bivariate analyses showed that the association between axonal neuropathy with SCV and sciatic neurofibromas was mediated by the association between SC-NFs and sciatic neurofibromas. Conclusion The at-risk phenotype of NF-1 patients (i.e. NF-1 patients with SC-NFs) is ascribable to associations linking SC-NFs to internal neurofibromas at risk for malignant transformation and to axonal neuropathies with slowed conduction velocities. Axonal neuropathies with SCV are particularly common in patients with at least ten SC-NFs. Registration details ORPHA86301 |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1750-1172 |
| DOI: | 10.1186/1750-1172-6-51 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f94f683f638743cd23c5a6122ffd2f5Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7f94f683f638743cd23c5a6122ffd2f5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17501172 |
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| DOI: | 10.1186/1750-1172-6-51 |