10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Background : In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007, most of these centers have entered the data for patients with developmental disorders into the CEMARA population-based registry, a national online data repository for all rare diseases. Through the CEMARA web portal, descriptive demographic data, clinical data, and the chronology of medical follow-up can be obtained for each center. We address the interest and ongoing challenges of this national data collection system 10 years after its implementation. Methods : Since 2007, clinicians and researchers have reported the “minimum dataset (MDS)” for each patient presenting to their expert center. We retrospectively analyzed administrative data, demographic data, care organization and diagnoses. Results : Over 10 years, 228,243 RD patients (including healthy carriers and family members for whom experts denied any suspicion of RD) have visited an expert center. Among them, 167,361 were patients affected by a RD (median age 11 years, 54% children, 46% adults, with a balanced sex ratio), and 60,882 were unaffected relatives (median age 37 years). The majority of patients (87%) were seen no more than once a year, and 52% of visits were for a diagnostic procedure. Among the 2,869 recorded rare disorders, 1,907 (66.5%) were recorded in less than 10 patients, 802 (28%) in 10 to 100 patients, 149 (5.2%) in 100 to 1,000 patients, and 11 (0.4%) in > 1,000 patients. Overall, 45.6% of individuals had no diagnosis and 6.7% had an uncertain diagnosis. Children were mainly referred by their pediatrician (46%; n = 55,755 among the 121,136 total children referrals) and adults by a medical specialist (34%; n = 14,053 among the 41,564 total adult referrals). Given the geographical coverage of the centers, the median distance from the patient’s home was 25.1 km (IQR = 6.3 km-64.2 km). Conclusions : CEMARA provides unprecedented support for epidemiological, clinical and therapeutic studies in the field of RD. Researchers can benefit from the national scope of CEMARA data, but also focus on specific diseases or patient subgroups. While this endeavor has been a major collective effort among French RD experts to gather large-scale data into a single database, it provides tremendous potential to improve patient care

Extracorporeal Membrane Oxygenation for Severe Acute Respiratory Distress Syndrome associated with COVID-19: An Emulated Target Trial Analysis.

RATIONALE: Whether COVID patients may benefit from extracorporeal membrane oxygenation (ECMO) compared with conventional invasive mechanical ventilation (IMV) remains unknown. OBJECTIVES: To estimate the effect of ECMO on 90-Day mortality vs IMV only Methods: Among 4,244 critically ill adult patients with COVID-19 included in a multicenter cohort study, we emulated a target trial comparing the treatment strategies of initiating ECMO vs. no ECMO within 7 days of IMV in patients with severe acute respiratory distress syndrome (PaO2/FiO2 <80 or PaCO2 ≥60 mmHg). We controlled for confounding using a multivariable Cox model based on predefined variables. MAIN RESULTS: 1,235 patients met the full eligibility criteria for the emulated trial, among whom 164 patients initiated ECMO. The ECMO strategy had a higher survival probability at Day-7 from the onset of eligibility criteria (87% vs 83%, risk difference: 4%, 95% CI 0;9%) which decreased during follow-up (survival at Day-90: 63% vs 65%, risk difference: -2%, 95% CI -10;5%). However, ECMO was associated with higher survival when performed in high-volume ECMO centers or in regions where a specific ECMO network organization was set up to handle high demand, and when initiated within the first 4 days of MV and in profoundly hypoxemic patients. CONCLUSIONS: In an emulated trial based on a nationwide COVID-19 cohort, we found differential survival over time of an ECMO compared with a no-ECMO strategy. However, ECMO was consistently associated with better outcomes when performed in high-volume centers and in regions with ECMO capacities specifically organized to handle high demand. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Importance of the reacting medium in artificial maturation of a coal by confined pyrolysis. 2. Water and polar compounds

International audienc

REACTIVITE DES BITUMES D'ENROBAGE DES DECHETS ULTIMES. COMPARAISON AVEC UN ANALOGUE NATUREL

NANCY/VANDOEUVRE-INPL (545472102) / SudocSudocFranceF

Importance of the Reacting Medium in Artificial Maturation of a Coal by Confined Pyrolysis. 1. Hydrocarbons and Polar Compounds

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Composition organique de boues résiduaires de stations d'épuration lorraines (caractérisation moléculaire et effets de la biodégradation)

Cette étude s'est intéressée à la caractérisation moléculaire du contenu organique de boues résiduaires de stations d'épuration de la région Lorraine. Les quarante huit échantillons collectés proviennent de stations domestiques de différentes tailles (rurales, petites urbaines et urbaines), de stations industrielles (papeteries) et de stations agro-alimentaires (laiteries et fromageries). Le premier volet développé au cours de cette étude a permis de dresser l'inventaire des composés présents dans les boues d'épuration (i) sous forme libre (fraction organique soluble- FOS) et (ii) sous forme liée à la structure macromoléculaire (fraction organique insoluble- FOI). A cette fin, les outils analytiques respectivement utilisés sont la GC-MS d'une part, et la THM-GC-MS et Py-GC-AED d'autre part. Les résultats de l'analyse de la FOS et de la FOI fournissent une information équivalente dans la mesure où ils permettent de différencier les boues selon leur origine (agro-alimentaire, industrielle ou domestique). Une empreinte moléculaire spécifique à chaque type de boues a ainsi pu être définie. Par ailleurs, l'ensemble des boues domestiques est caractérisé par un fonds géochimique pétrolier, témoignant d'une pollution diffuse commune. Une variabilité autour de ce fonds géochimique a également pu être identifiée pour certaines boues domestiques, sans relation avec la taille de la station, ni le degré d'industrialisation de la région. Ces variations, essentiellement observées au niveau de la FOS, peuvent par contre être imputées à des pollutions ponctuelles ou accidentelles dans le système de collecte des eaux usées domestiques. Ce travail a pour but de fournir, à terme, des paramètres moléculaires d'aide au suivi et au contrôle des réseaux de collecte des eaux usées. Le deuxième volet de ce projet s'est intéressé à l'étude des effets de la biodégradation sur le contenu organique des boues. Afin de simuler les processus de dégradation, quatre échantllions ont été incubés à 24C pendant 140 jours. L'analyse couplée de la FOS et de la FOI des échantillons biodégradés a permis de déterminer les grandes tendances de l'évolution du contenu organique au cours des expérimentations. Un schéma réactionnel global de biodégradation peut ainsi être proposé: l'altération de la structure macromoléculaire de la FOI libère des composés extractibles, dégradés eux-mêmes en composés de plus bas poids moléculaire ou minéralisés. Par ailleurs, cette étude a permis de déterminer des indices de biodégradation ainsi que des marqueurs organiques résistants à cette biodégradation.This study deals with the molecular characterisation of the organic content of sewage sludges from Lorraine (Northeast of France). The 48 samples collected come from domestic wastewater treatment plant of different capacities (rural, small urban and urban) and from depuration stations treating dairy, cheese dairy and paper-mill effluents. The first part of this study enabled to make the inventory of the compound present in sewage sludges (1) under free form (soluble organic fraction - SOF), and (ii) Iinked to the macromolecular structure (insoluble organic fraction - lOF). To achieve that, the analytical tools used were respectively GC-MS on the one hand, and THM-GC-MS and Py-GC-AED on the other hand. The results of the analysis of the SOF and lOF provide equivalent information ln that they enable the differentiation of siudges according to thelr origin (food-processing, paper-mlli or domestic). A molecular fingerprint specific to each type of sludge was thus defined. Besides, all the domestic sludges are characterised by a geochemical petroleum background which testifies to a common diffuse pollution. Moreover, a variability in this geochemical background was observed for some domestic sludges, regardless of the size of the station, or of the degree of industrialisation of the region. These variations, which are essentially observed in the SOF, can be attributed to punctual or accidental pollution in the sewer system of domestic wastewater. The eventual goal of this work ls to provide molecular parameters in order to improve the monitoring and the control of wastewater sewer systems. The second part of this project studies the effects of biodegradation on the organic content of sewage sludges. Four samples were incubated at 24C during 140 days in order to simulate the processes of degradation. The simultaneous analysis of the SOF and lOF of the biodegraded samples enabled the determination of the great tendencies of the evolution of the organic content during the experiments. A global pattern of biodegradation reactions can thus be proposed: the chemical degradation of the macromolecular structure of the lOF produces extractable compounds which will be either degraded themselves into lower molecular weight compounds or mineralised. Besides, organic markers resistant to biodegradation couId be determined and indexes of biodegradation proposed.NANCY1-SCD Sciences & Techniques (545782101) / SudocSudocFranceF

Influence of paleoenvironment and radiolytic alteration on the geochemistry of organic matter from Autunian shales of the Lodeve uranium deposit, France

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Influence substrate oxidation ratio on food liking, food wanting and food consumption in humans

Meeting AbstractInternational audienceInfluence substrate oxidation ratio on food liking, food wanting and food consumption in human

Evidence for Diffuse Contamination of River Sediments by Road Asphalt Particles

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