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La Louvière, Belgium

Cherin P.,Medecine Interne | Rose C.,Hematologie | De Roux-Serratrice C.,Medecine Interne | Tardy D.,Actelion Pharmaceuticals | And 9 more authors.
Journal of Inherited Metabolic Disease | Year: 2010

Background: Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic. Methods: We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up. Results: One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients. Conclusions: These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations. © 2010 SSIEM and Springer.


Hachulla E.,Medecine Interne | Rose C.,Hematologie | Gressin V.,Actelion Pharmaceuticals | Cherin P.,Medecine Interne | And 8 more authors.
Osteoporosis International | Year: 2011

Summary: Gaucher disease type 1 (GD1), results in a range of skeletal complications including osteopenia, osteoporosis, and osteonecrosis, but there is little published information regarding vertebral fractures. Findings from this observational study indicated that the prevalence of vertebral fractures in a cohort of adult French GD1 patients is approximately 15%. Introduction: The aim of the study was to assess the prevalence and characteristics of vertebral fractures in a cohort of adult patients with GD1. Methods: This study was performed in adult patients with GD1 based on a detailed and complete clinical examination. For all patients for whom vertebral fractures were reported, a specific questionnaire was sent to physicians, and imaging data were collected, when available, for centralized analysis. Results: Data were collected from a total of 105 adult GD1 patients. Bone complications were reported in 85% of patients, among whom vertebral fractures were diagnosed in 16 (15%); seven women and nine men (mean age, 45 years). We observed five patients with multiple vertebral fractures and one patient in whom the T3 vertebra was fractured. Most of these patients did not report fracture-related back pain. Conclusions: The prevalence of vertebral fractures in this cohort of adult patients with GD1 was 15%. Greater awareness of the natural history of vertebral fractures in GD1, and rigorous monitoring of bone fragility and spine involvement in affected patients, should allow earlier detection and initiation of treatment tailored toward improving bone status. © 2010 International Osteoporosis Foundation and National Osteoporosis Foundation.


Ben Salah F.Z.,Institute Superieur Of Leducation Speciale | Dzirib C.,Institute National dOrthopedie | Ben Dridic M.F.,Pediatrie
Journal de Readaptation Medicale | Year: 2014

The disabled people constitute a major concern in Tunisia; their care is considerable for the society and especially the concerned families. Among them, the multi-handicapped people represent a more dependent, more vulnerable group, deserving to be individualized and better known to specify their real needs and improve their global coverage (care), without neglecting that of their family. The authors present the results of the reflection organized on this theme in Tunisia within the framework of a federal research project, the report of which was published in a book appeared in June 2013. © 2014.


Decock A.,Ghent University | Ongenaert M.,Ghent University | Hoebeeck J.,Ghent University | Hoebeeck J.,University College Ghent | And 15 more authors.
Genome Biology | Year: 2012

Background: Accurate outcome prediction in neuroblastoma, which is necessary to enable the optimal choice of risk-related therapy, remains a challenge. To improve neuroblastoma patient stratification, this study aimed to identify prognostic tumor DNA methylation biomarkers.Results: To identify genes silenced by promoter methylation, we first applied two independent genome-wide methylation screening methodologies to eight neuroblastoma cell lines. Specifically, we used re-expression profiling upon 5-aza-2'-deoxycytidine (DAC) treatment and massively parallel sequencing after capturing with a methyl-CpG-binding domain (MBD-seq). Putative methylation markers were selected from DAC-upregulated genes through a literature search and an upfront methylation-specific PCR on 20 primary neuroblastoma tumors, as well as through MBD- seq in combination with publicly available neuroblastoma tumor gene expression data. This yielded 43 candidate biomarkers that were subsequently tested by high-throughput methylation-specific PCR on an independent cohort of 89 primary neuroblastoma tumors that had been selected for risk classification and survival. Based on this analysis, methylation of KRT19, FAS, PRPH, CNR1, QPCT, HIST1H3C, ACSS3 and GRB10 was found to be associated with at least one of the classical risk factors, namely age, stage or MYCN status. Importantly, HIST1H3C and GNAS methylation was associated with overall and/or event-free survival.Conclusions: This study combines two genome-wide methylation discovery methodologies and is the most extensive validation study in neuroblastoma performed thus far. We identified several novel prognostic DNA methylation markers and provide a basis for the development of a DNA methylation-based prognostic classifier in neuroblastoma. © 2012 Decock et al.; licensee BioMed Central Ltd.


Ben Salah F.Z.,Institute Superieur Of Lgeducation Speciale | Dzirib C.,Institute National Dgorthopedie | Ben Dridic M.F.,Pediatrie
Journal de Readaptation Medicale | Year: 2014

The disabled people constitute a major concern in Tunisia; their care is considerable for the society and especially the concerned families. Among them, the multi-handicapped people represent a more dependent, more vulnerable group, deserving to be individualized and better known to specify their real needs and improve their global coverage (care), without neglecting that of their family. The authors present the results of the reflection organized on this theme in Tunisia within the framework of a federal research project, the report of which was published in a book appeared in June 2013. © 2014 Published by Elsevier Masson SAS.

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