A5058149898- Neurofibromatosis and Schwannoma Cases
- Soft tissue tumor case studies
- Sarcoma Diagnosis and Treatment
- Soft tissue tumors and treatment
- Spondyloarthritis Studies and Treatments
- Meningioma and schwannoma management
- Bone Tumor Diagnosis and Treatments
- Neuroblastoma Research and Treatments
- Rheumatoid Arthritis Research and Therapies
- Psoriasis: Treatment and Pathogenesis
- Chromatin Remodeling and Cancer
- Vascular Malformations and Hemangiomas
- Bone and Joint Diseases
- Gastrointestinal Tumor Research and Treatment
- Dupuytren's Contracture and Treatments
- Urologic and reproductive health conditions
- Head and Neck Surgical Oncology
- Tuberous Sclerosis Complex Research
- Adrenal and Paraganglionic Tumors
- Hereditary Neurological Disorders
- Pregnancy and Medication Impact
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Glioma Diagnosis and Treatment
- Historical and Architectural Studies
- Nietzsche, Schopenhauer, and Hegel
Hôpitaux Universitaires Henri-Mondor
2017-2024
Assistance Publique – Hôpitaux de Paris
2013-2024
Inserm
2010-2024
Centre d’Investigation Clinique 1436
2021-2024
Université Paris-Est Créteil
2011-2023
Centre Hospitalier Universitaire Henri-Mondor
2013-2021
University of Lübeck
2021
Council of Independent Colleges
2017-2019
Laboratoire National de Référence
2018
Hôpital Broca
2016
Abstract Neurofibromatosis type 1 is a relatively common genetic disease, with prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems cutaneous, neurologic, orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy have life expectancy about 10–15 years shorter than the general population. mainstay management patient-centered longitudinal care age-specific...
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number flanking genes. Two recurrent microdeletion types are found in most cases, with breakpoints located paralogous regions (proximal NF1-REP-a distal NF1-REP–c for 1.4 Mb type-1 microdeletion, SUZ12 SUZ12P 1.2 type-2 microdeletion). A more severe phenotype is usually associated patients than those intragenic mutations. We characterized 70 unrelated...
Neurofibromatosis type 1 (NF1) affects about one in 3,500 people all ethnic groups. Most NF1 patients have private loss-of-function mutations scattered along the gene. Here, we present an original investigation strategy and report a comprehensive mutation analysis of 565 unrelated from NF-France Network. A was identified 546 patients, giving detection rate 97%. The combined cDNA/DNA approach showed that significant proportion missense (30%) were deleterious by affecting pre-mRNA splicing....
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity NF1, we examined correlations between affected relatives 750 NF1 patients from 275 multiplex families collected through NF-France Network. Twelve NF1-related clinical features, including five quantitative traits (number café-au-lait spots small size large size, number...
Abstract Background Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with 15-year decrease life expectancy. However, data on mortality NF1 are limited. Our aim evaluate large retrospective cohort of patients seen France between 1980 and 2006. Methods Consecutive referred the National French Referral Center for Neurofibromatoses were included. The standardized ratio (SMR) its 95% confidence interval (CI) calculated as observed over...
Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome with worldwide birth incidence of one in 2500. Genetic factors unrelated to the NF1 locus are thought influence number plexiform neurofibromas (PNFs) patients NF1, but no have been identified date. We used high-resolution array comparative genomic hybridization tissue from 22 PNFs obtained 18 identify modifier genes involved PNF development. family-based association test for five previously cancer-susceptibility tag...
Neurofibromatosis type 1 is fully penetrant by the age of 8 years, and 3 criteria diagnosis are dermatological: café-au-lait spots (CLS), intertriginous freckling neurofibromas (NF).The aim our study was to determine evolving pattern cutaneous manifestations during adulthood.Phenotypic data patients seen in center between March 2003 December 2009 were studied. Patients classified 10-year groups. Following clinical characteristics, number CLS subcutaneous NF compared according age.728...
Neurofibromatosis 1 (NF1) has a significant impact on quality of life (QoL).To evaluate QoL in NF1 according to phenotype from the viewpoint children and proxy.One hundred forty families with child aged between 8 16 years, seen consecutively at National Academic Paediatric Referral Centre for evaluation, were contacted by mail. Families agreeing participate sent two questionnaires, DISABKIDS proxy cartoon version Children's Dermatology Life Quality Index (CDLQI). scores compared those other...
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Objective. To assess whether factors such as inflammation by laboratory tests and MRI differ between early axial SpA with without radiographic lesions. Methods. Cross-sectional analysis of baseline data from Devenir des Spondylarthropathies Indifferenciées Récentes (DESIR) cohort patients having recent-onset inflammatory back pain meeting Assessment SpondyloArthritis international Society criteria. The evaluation included radiographs the SI joints (SIJs) spine. Patients were classified...
To assess whether the site of axial pain (thoracic spine, lumbar spine or buttock(s)) was associated with MRI lesions in patients recent inflammatory back (IBP) suggesting spondyloarthritis.We conducted a cross-sectional study baseline data 708 IBP from DESIR cohort. Radiographs sacroiliac joints (SIJs) and scans SIJs thoracic were obtained routinely. Associations between sites structural changes evaluated using separate multivariate logistic regressions.Of 648 complete data, 61% had pain,...
Background Neurofibromatosis type 1 (NF1) predisposes to breast cancer (BC), but no genotype-phenotype correlations have been described. Methods Constitutional NF1 mutations in 78 patients with BC (NF1-BC) were compared the Leiden Open Variation Database (n=3432). Results No cases observed whole or partial gene deletions (HR 0.10; 95% CI 0.006 1.63; p=0.014, Fisher’s exact test). There gross relationships mutation position. Forty-five (64.3%; HR 6.4–83) of 70 different more frequent than...
Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective was to better describe demographic and clinical this condition.This a retrospective, bi-center study conducted two French expert centers for neurofibromatosis schwannomatosis. The clinical, radiographic, pathological molecular aspects were extracted from patients' records.Twelve patients...
Malignant peripheral nerve sheath tumours (MPNSTs) correspond to the most frequent and aggressive neoplasic complications associated with poor prognosis in neurofibromatosis 1.To define dysplastic neurofibroma potentially at risk of transformation evaluate its prevalence incidence.According our database, we retrospectively included, between 1 March 2000 31 August 2004, all patients who had subcutaneous and/or plexiform neurofibromas removed surgically. Tumour specimens were systematically...
Abstract Objective To identify clinical characteristics associated with internal neurofibromas in children NF1, as a means of ensuring the early identification patients at high risk for malignant peripheral nerve-sheath tumors developed from preexisting neurofibromas. Patients and methods We used data two NF1 populations, France North America, respectively. The French database comprised 1083 meeting NIH diagnostic criteria Neurofibromatosis Institute Database America 703 patients. younger...
Abstract Objectives To assess associations between subcutaneous neurofibromas (SC-NFs) and internal in patients with neurofibromatosis type 1 (NF-1) to determine whether the association SC-NFs peripheral neuropathy was ascribable neurofibromas. Patients methods Prospective multicentre case-control study. Between 2005 2008, 110 NF-1 adults having two or more were individually matched for age, sex hospital controls who had no SC-NF. underwent standardized MRI of spinal cord, nerve roots...
Cutaneous neurofibromas (cNF), present in 95% of individuals with neurofibromatosis 1 (NF1), are considered as one the greatest medical burden because physical disfigurement. No specific score evaluates their impact on quality life (QoL).To develop a assessing cNF-related QoL.Through multidisciplinary workshop including 10 patients, 3 expert-in-NF1 physicians, health care workers (nurses and psychologist) methodologist, French version Skindex-16 was modified by adding items. The new...
The objective of this study was to evaluate the reliability recognising structural lesions on MRI (erosions, fatty lesions, ankylosis) sacroiliac joints (MRI-SIJ) in clinical practice compared a central reading patients with possible recent axial spondyloarthritis (axSpA).Patients aged 18-50 years, (<3 years) and chronic (≥3 months) inflammatory back pain, suggestive axSpA were included DEvenir des Spondyloarthrites Indifférenciées Récentes (DESIR) cohort. MRI-SIJ scored by non-trained local...
Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs) plexiform (pNFs) neurofibromas.