Laser et diagnostic en odontologie

BORDEAUX2-BU Sci.Homme/Odontol. (330632102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

SINR Model for MBSFN Based Mission Critical Communications

International audienceMulticast/Broadcast Single Frequency Network (MBSFN) is envisioned to be a key technology for business and mission critical communications. The need arises to define simple and efficient dimensioning rules for such networks. The Signal to Interference plus Noise Ratio (SINR) is an important key performance parameter since other metrics such as outage probability and capacity can be deduced from it. In this work, we propose an analytical model to derive an approximate closed-form formula of the SINR in a MBSFN. Our model takes into account Inter-Symbol Interference due to the different propagation delays between the User Equipment (UE) and its serving evolved Nodes-B (eNBs). The comparison with Monte Carlo simulations shows that our approach provides accurate results when shadowing standard deviation is low. When shadowing is highly variable, our model, while less accurate, outperforms the traditional approach based on Fenton-Wilkinson. This phenomenon is due to the fact that several eNBs serve the same UE so that shadowing on every individual link compensate.</p

Épidémiologie des cancers du sein dans le Finistère entre 2000 et 2009 à partir d'une base de données anatomopathologiques . [Breast cancer in Finistère, France: epidemiological description and tendencies over a 10-year period (2000-2009) according to pathology data].

International audienceUNLABELLED: The aim of this study was the description of breast carcinoma over a 10-year period according to pathology data. METHOD: Descriptive epidemiological study based on data collection of pathological code ADICAP (injury, organ, and applied technical), histological, hormonal, node and administrative data. From January 1st 2000 to December 31st 2009, 6186 women living in Finistère have had a diagnosis of invasive breast carcinoma. The incidence rate involved from 125 per 100,000 women to 136 in 2009. Average age to the first diagnosis was 61.4 ± 13.6; class of age with the more important incidence rate was for the 50-74 years old. The different histological subtypes varied over the period (P<0.0001). Tumour's size was notified for more than 75% in the whole period of the study. The average size evolved significantly over the period (P<0.0001 from 23.5mm [± 18.4] in 2000 to 21.02 [± 16.2] in 2009, particularly after 2003 [P<0.0002]). The grade status (SBR, MSBR and Elston Ellis) showed a trend to the gravity decrease over the period (respectively P=0.03 [r(2)=-0,04]; P<0.0001 [r(2)=-0.10]; P<0.0001 [r(2)=-0.08]). CONCLUSION: Our results confirm the interest of pathology database for the description of invasive breast cancer

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

International audienceBackground: Mutations in the gene encoding mito- fusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features. Objective: To describe MFN2 mutations and associ- ated phenotypes in patients with hereditary motor and sensory neuropathy (HMSN). Design: Direct sequencing of the MFN2 gene and clini- cal investigations of patients with MFN2 mutations. Setting: Molecular genetics laboratory of a university hospital and the LimogesNational Referral Center for Rare Peripheral Neuropathies. Patients: One hundred fifty index patients with HMSN and amedianmotor nerve conduction velocity of 25m/s or greater and without mutations in the genes encoding connexin 32 and myelin protein zero. Main Outcome Measures: Results of genetic analy- ses and phenotypic observations. Results: Twenty different missense mutations were identified in 20 index patients. Mutation frequency was 19 of 107 (17.8%) in patients with CMT2 and 1 of 43 (2.3%) in patients with a median motor nerve conduc- tion velocity less than 38 m/s. Four patients had proven de novo mutations, 8 families had autosomal dominant inheritance, and 3 had autosomal recessive inheritance. The remaining 5 patients were sporadic cases with het- erozygous mutations. Phenotypes varied from mild forms to early-onset severe forms. Additional features were encountered in 8 patients (32%). Six patients un- derwent sural nerve biopsy: electronic microscopy showed prominent mitochondrial abnormalities on longitudinal sections. Conclusions: MFN2 mutations are a frequent cause of CMT2, with variable severity and either dominant or recessive inheritance. MFN2 gene testing must be a first-line analysis in axonal HMSN irrespective of the mode of inheritance or the severity of the peripheral neuropathy

Le théâtre des amateurs : un théâtre de société(s). Actes du colloque international des 24, 25 et 26 septembre 2004, Le triangle, Rennes

Colloque organisé par l'ADEC-Maison du théâtre amateur (Rennes), le CNRS LARAS devenu ARIAS (Paris) et Théâtre s en Bretagne (Saint-Brieuc

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

International audiencePrader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles. Data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Nineteen PWS subjects with a mean age of 9.2 years were included. The mean full-scale intellectual quotient (IQ) was 58 (Wechsler scale). There were frequent dissociations between verbal and performance IQ that were not associated with a specific profile. We also observed lower autonomy and communication scores (5.3 years and 5.9 years equivalent, respectively, Vineland scale), the absence of hyperactivity (Conners scale), and the presence of behavioural abnormalities (CBCL scale). Multidisciplinary medical supervision was generally coordinated by the paediatric endocrinologist and did not always include follow-up with all of the recommended specialists, in particular with a paediatric psychiatrist. Analysis of multidisciplinary rehabilitation conducted in public and private-sector establishment revealed failings in psychological support, occupational therapy and dietary follow-up. Regarding education, most children younger than 10 years were in normal schools, while older individuals were often cared for in medico-social institutions. In conclusion, children and adolescents with PWS generally received appropriate care. Though there have been considerable improvements in the management of children with PWS, reference centres should continue reinforcing the coordination of multidisciplinary supervision

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

International audienceBackground - An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods - We included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries, referred to 5 tertiary centers for cardiomyopathies, in the validation sample. LTVTA was defined as (1) sudden cardiac death or (2) implantable cardioverter defibrillator-treated or hemodynamically unstable VTA. The prognostic model was derived using the Fine-Gray regression model. The net reclassification was compared with current clinical practice guidelines. The results are presented as means (SD) or medians [interquartile range]. Results - We included 444 patients, 40.6 (14.1) years of age, in the derivation sample and 145 patients, 38.2 (15.0) years, in the validation sample, of whom 86 (19.3%) and 34 (23.4%) experienced LTVTA over 3.6 [1.0-7.2] and 5.1 [2.0-9.3] years of follow-up, respectively. Predictors of LTVTA in the derivation sample were: male sex, nonmissense LMNA mutation, first degree and higher atrioventricular block, nonsustained ventricular tachycardia, and left ventricular ejection fraction (https://lmna-risk-vta.fr). In the derivation sample, C-index (95% CI) of the model was 0.776 (0.711-0.842), and the calibration slope 0.827. In the external validation sample, the C-index was 0.800 (0.642-0.959), and the calibration slope was 1.082 (95% CI, 0.643-1.522). A 5-year estimated risk threshold ≥7% predicted 96.2% of LTVTA and net reclassified 28.8% of patients with LTVTA in comparison with the guidelines-based approach. Conclusions - In comparison with the current standard of care, this risk prediction model for LTVTA in laminopathies significantly facilitated the choice of candidates for implantable cardioverter defibrillators. Clinical trial registration - URL: https://www.clinicaltrials.gov. Unique identifier: NCT03058185

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme (R)) in 12 patients with advanced late-onset Pompe disease

International audienceThe efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease.We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT. Patients' medical records were collected and reviewed and respiratory and motor functions, before ERT initiation and upon last evaluation were compared.Twelve patients (7 males) were identified. Median age at symptom onset was 24years [IQR=15.5; 36.0]. At baseline ventilation was invasive in 11 patients and noninvasive in one, with a median ventilation time of 24h [IQR=21.88; 24.00] (min 20; max 24). ERT was initiated at a median age of 52.5years [IQR=35.75; 66.50]. Median treatment duration was 55months [IQR=39.5; 81.0]. During observational period no adverse reaction to ERT was recorded, five patients (41.67%) died, three decreased their ventilation time by 30, 60 and 90min and two increased their assisted walking distance, by 80 and 20m.Some patients at a very advanced stage of Pompe disease may show a mild benefit from ERT, in terms of increased time of autonomous ventilation and of enlarged distance in assisted walk. ERT can be initiated in these patients in order to retain their current level of independence and ability to perform daily life activities

Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes

Most current approaches for analyzing metagenomic data rely on comparisons to reference genomes, but the microbial diversity of many environments extends far beyond what is covered by reference databases. De novo segregation of complex metagenomic data into specific biological entities, such as particular bacterial strains or viruses, remains a largely unsolved problem. Here we present a method, based on binning co-abundant genes across a series of metagenomic samples, that enables comprehensive discovery of new microbial organisms, viruses and co-inherited genetic entities and aids assembly of microbial genomes without the need for reference sequences. We demonstrate the method on data from 396 human gut microbiome samples and identify 7,381 co-abundance gene groups (CAGs), including 741 metagenomic species (MGS). We use these to assemble 238 high-quality microbial genomes and identify affiliations between MGS and hundreds of viruses or genetic entities. Our method provides the means for comprehensive profiling of the diversity within complex metagenomic samples