Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management

PURPOSE: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France. METHODS: Patients recruited from a specialized outpatient clinic over a 21-year period underwent extensive clinical investigations and 107 genes were screened by polymerase chain reaction/sequencing. RESULTS: There were 1957 IRD cases (1481 families) distributed in 70% of pigmentary retinopathy cases (56% non-syndromic, 14% syndromic), 20% maculopathies and 7% stationary conditions. Patients with retinitis pigmentosa were the most frequent (47%) followed by Usher syndrome (10.8%). Among non-syndromic pigmentary retinopathy patients, 84% had rod-cone dystrophy, 8% cone-rod dystrophy and 5% Leber congenital amaurosis. Macular dystrophies were encountered in 398 cases (30% had Stargardt disease and 11% had Best disease). There were 184 ION cases (127 families) distributed in 51% with dominant optic neuropathies, 33% with recessive/sporadic forms and 16% with Leber hereditary optic neuropathy. Positive molecular results were obtained in 417/609 families with IRDs (68.5%) and in 27/58 with IONs (46.5%). The sequencing of 5 genes (ABCA4, USH2A, MYO7A, RPGR and PRPH2) provided a positive molecular result in 48% of 417 families with IRDs. Except for autosomal retinitis pigmentosa, in which less than half the families had positive molecular results, about 75% of families with other forms of retinal conditions had a positive molecular diagnosis. CONCLUSIONS: Although gene discovery considerably improved molecular diagnosis in many subgroups of IRDs and IONs, retinitis pigmentosa, accounting for almost half of IRDs, remains only partly molecularly defined

R&D on support to ITER safety assessment

After performing its first ITER safety assessment in 2002 on behalf of the French "Autorité de Sûreté Nucléaire (ASN)", the French "Institut de Radioprotection et de Sûreté Nucléaire (IRSN)" is now analysing the new ITER Fusion facility safety file. The operator delivered this file to the ASN as part of its request for a creation decree, legally necessary before building works can begin on the site. The IRSN first task in following ITER throughout its lifetime is to study the safety approach adopted by the operator and the associated issues. Such a challenging new technology calls for further in-house expertise and so in parallel a R&D program has been set up to support this safety assessment process, now and in the next years. Its main objectives are to identify the key parameters for mastering some risks (that would have been insufficiently justified by the operator) and to perform some verifications with methods and codes independent from the operator's ones. Priority has been given to four technical issues (others could be investigated in the future, like the behaviour of activated corrosion products). The first issue concerns the simulation of accident sequences with the help of the ASTEC European system code, developed by IRSN (jointly with its German counterpart, the GRS) for severe accidents in Pressurised Water Reactors. A preliminary analysis showed that most of its physical models are already applicable, e.g., for thermal-hydraulics in accidents caused by water or air ingress into the vacuum vessel (VV) or dust transport. Work has started in 2008 on some model adaptations, for instance oxidation of VV first wall materials by steam or air, and on validation on the ITER-specific ICE and LOVA experiments. Other model improvements are planned in the next years, as feedback from the work done for the other technical issues and from the code validation. The second issue concerns the risk of gas explosion due to concentrations of hydrogen and carbon monoxide in the ITER main volumes (VV but also the neighbouring volumes), produced by wall materials oxidation. A consistent program of modelling in the Computational Fluid Dynamics (CFD) TONUS IRSN code and of experiments in the TOSQAN (IRSN) and ENACEFF (CNRS/Orléans, France) facilities has been defined: inertising as means of mitigation, flammability limits, flame acceleration and transition to detonation, gas combustion. The third issue concerns the risk of dust explosion due to concentrations in the ITER volumes after remobilisation of dust deposits on walls. A consistent program of modelling in the CAST3M code (CEA), in collaboration with the Carthagene University (Spain), and of experiments in the BISE and TOSQAN IRSN facilities has been defined. The concerned phenomena are dust spatial distribution, remobilisation and entrainment, and explosion. The studies will also address the characterisation of dust and the control and mitigation processes. The fourth issue concerns the tritium behaviour. The theoretical analysis addresses its retention in the VV first walls, its chemistry in the gas phase during transport in the cooling circuits, and in the liquid phases during trapping in the neighbouring volumes or buildings. The efficiency of the diverse processes foreseen for detritiation, either in the VV or in the other rooms, in relation with the ventilation systems, is being also investigated. © 2008 Elsevier B.V. All rights reserved

Progress of IRSN R&D on ITER safety assessment

International audienceThe French "Institut de Radioprotection et de Sûreté Nucléaire" (IRSN), in support to the French "Autorité de Sûreté Nucléaire", is analysing the safety of ITER fusion installation on the basis of the ITER operator's safety file. IRSN set up a multi-year RandD program in 2007 to support this safety assessment process. Priority has been given to four technical issues and the main outcomes of the work done in 2010 and 2011 are summarized in this paper for simulation of accident scenarios in the vacuum vessel, adaptation of the ASTEC system code; for risk of explosion of gas-dust mixtures in the vacuum vessel, adaptation of the TONUS-CFD code for gas distribution, development of DUST code for dust transport, and preparation of IRSN experiments on gas inerting, dust mobilization, and hydrogen-dust mixtures explosion; for evaluation of the efficiency of the detritiation systems, thermo-chemical calculations of tritium speciation during transport in the gas phase and preparation of future experiments to evaluate the most influent factors on detritiation; for material neutron activation, adaptation of the VESTA Monte Carlo depletion code. The first results of these tasks have been used in 2011 for the analysis of the ITER safety file. In the near future, this RandD global programme may be reoriented to account for the feedback of the latter analysis or for new knowledge. © Springer Science+Business Media, LLC 2011

Níveis de energia metabolizável para frangos de corte de 1 a 21 dias de idade mantidos em ambiente de alta temperatura Metabolizable energy levels for broiler chicks from 1 to 21 days of age under high environmental temperature

Quatrocentos e cinqüenta pintos de corte machos, Avian Farms, com peso médio de 48±0,3 g, foram utilizados em um experimento conduzido em câmaras climáticas, para avaliar o efeito dos níveis de energia metabolizável (2850, 2925, 3000, 3075 e 3150 kcal de EM/kg), entre 1 e 21 dias de idade, mantidos em ambiente de alta temperatura (34ºC e 60% UR). O delineamento utilizado foi o inteiramente casualizado, com cinco tratamentos, nove repetições e dez aves por unidade experimental. As características estudadas foram desempenho e composição de carcaça, em que a estimativa da exigência de energia metabolizável das aves foi feita por meio de regressão linear ou quadrática, conforme o melhor ajuste. O ganho de peso, o consumo de energia metabolizável e as deposições de proteína e gordura na carcaça aumentaram, enquanto a conversão alimentar dos pintos reduziu de forma linear com os tratamentos. O rendimento de carcaça das aves não foi influenciado pelos níveis de EM da ração. Os níveis de EM da ração modificaram a composição da carcaça e aumentaram o peso de gordura abdominal. Os pintos de corte de 1 a 21 dias de idade, mantidos sob alta temperatura, exigem, no mínimo, relação energia:proteína de 13,6 para melhor desempenho e deposição de proteína na carcaça.<br>Four hundred and fifty Avian Farms male broilers chicks with 48±0.3g of live weight were used in an experiment carried out at climatic chambers to evaluate the effect of the metabolizable energy levels (2850; 2925; 3000; 3075 and 3150 kcal of ME/kg), from 1 to 21 days, maintained at high environmental temperature (34ºC and 60% RH). A completely randomized design, with five treatments (ME levels), nine replicates and ten birds per experimental unit, was used. Performance and carcass composition were evaluated and the metabolizable energy requirement of the birds were obtained by linear or quadratic regression, according to the best fit. Weight gain, metabolizable energy intake, and protein and fat depositions in the carcass increased while the feed:gain ratio of the chicks linearly decreased with the treatments. The carcass yield of the birds was not influenced by the dietary ME levels. The dietary ME levels affected the carcass composition and increased the abdominal fat weight of the broiler chicks. The broilers chicks from 1 to 21 days of age, kept under high environmental temperature, require at least an energy:protein ratio of 13.6:1 for better performance and protein deposition in carcass