Measuring fuel poverty in France: which households are the most vulnerable?

Fuel poverty is a growing concern in France. Following the hike in energy prices that started in 2004, the problem of energy affordability for low-income households entered the political debate with the “Grenelle de l’environnement” in 2007. According to the standard UK definition (10% ratio) 3.4 million households were subject to fuel poverty in France in 2006. We question the way fuel poverty is currently measured and compare the impact of alternative measurement approaches on the extent and composition of fuel poverty in France. Then, we identify and characterize vulnerable households that are not ordinarily poor, but can be pushed into poverty because of their fuel bills. The incidence, depth and severity of poverty is measured with the Foster, Greer and Thorbecke indicator. Furthermore, econometric models are used to analyze which factors influence the probability of vulnerable households to fall into poverty. The study indicates that the proportion of fuel poor people and their characteristics differ significantly depending on the fuel poverty measure chosen. The econometric results show that the probability of falling into poverty is higher for those who are retired living alone, rent their home, use an individual boiler for heating, and cook with butane or propane

Measuring fuel poverty in France: which households are the most vulnerable?

Fuel poverty is a growing concern in France. Following the hike in energy prices that started in 2004, the problem of energy affordability for low-income households entered the political debate with the “Grenelle de l’environnement” in 2007. According to the standard UK definition (10% ratio) 3.4 million households were subject to fuel poverty in France in 2006. We question the way fuel poverty is currently measured and compare the impact of alternative measurement approaches on the extent and composition of fuel poverty in France. Then, we identify and characterize vulnerable households that are not ordinarily poor, but can be pushed into poverty because of their fuel bills. The incidence, depth and severity of poverty is measured with the Foster, Greer and Thorbecke indicator. Furthermore, econometric models are used to analyze which factors influence the probability of vulnerable households to fall into poverty. The study indicates that the proportion of fuel poor people and their characteristics differ significantly depending on the fuel poverty measure chosen. The econometric results show that the probability of falling into poverty is higher for those who are retired living alone, rent their home, use an individual boiler for heating, and cook with butane or propane

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

International audienceBackground: NLRP3-associated autoinflammatory diseases (NLRP3-AIDs) include conditions of various severities, due to germline or somatic mosaic NLRP3 mutations.Objective: To identify mosaic- versus germline-specific NLRP3 mutations' characteristics, we reinterpreted all the mutations reported in NLRP3-AIDs and performed an in-depth study of 3 novel patients.Methods: The pathogenicity of all reported mosaic/germline mutations was reassessed according to international recommendations and their location on the NLRP3 3-dimensional structure. Deep-targeted sequencing and NLRP3-inflammasome-activation assays were used to identify the disease-causing mutation in 3 patients.Results: We identified, in 3 patients, mosaic mutations affecting the same NLRP3 amino acid (Glu569). This residue belongs to 1 of the 2 mosaic mutational hot spots that face each other in the core of the NLRP3 ATPase domain. The review of the 90 NLRP3 mutations identified in 277 patients revealed that those hot spots account for 68.5% of patients (37 of 54) with mosaic mutations. Glu569 is affected in 22% of the patients (12 of 54) with mosaic mutations and in 0.4% of patients (1 of 223) with germline mutations. Only 8 of 90 mutations were found in mosaic and germinal states. All of the germline mutations were associated with a severe phenotype. These data suggest that mutations found only in mosaic state could be incompatible with life if present in germinal state. None of the 5 most frequent germline mutations was identified in mosaic state. Mutations found only in germinal state could, therefore, be asymptomatic in mosaic state.Conclusions: The phenotypic spectrum of NLRP3-AIDs appears to be related to the germinal/mosaic status and localization of the underlying mutations

Oxygen isotope fractionation between bird bone phosphate and drinking water

International audienceOxygen isotope compositions of bone phos- phate (δ18Op) were measured in broiler chickens reared in 21 farms worldwide characterized by contrasted lati- tudes and local climates. These sedentary birds were raised during an approximately 3 to 4-month period, and local precipitation was the ultimate source of their drink- ing water. This sampling strategy allowed the relationship to be determined between the bone phosphate δ18Op values (from 9.8 to 22.5‰ V-SMOW) and the local rainfall δ18Ow values estimated from nearby IAEA/WMO stations (from −16.0 to −1.0‰ V-SMOW). Linear least square fitting of data provided the following isotopic fractionation equation: δ18Ow = 1.119 (±0.040) δ18Op − 24.222 (±0.644); R2 = 0.98. The δ18Op–δ18Ow couples of five extant mallard ducks, a common buzzard, a European herring gull, a common ostrich, and a greater rhea fall within the predicted range of the equa- tion, indicating that the relationship established for extant chickens can also be applied to birds of various ecologies and body masses. Applied to published oxygen isotope com- positions of Miocene and Pliocene penguins from Peru, this new equation computes estimates of local seawater similar to those previously calculated. Applied to the basal bird Confuciusornis from the Early Cretaceous of Northeastern China, our equation gives a slightly higher δ18Ow value com- pared to the previously estimated one, possibly as a result of lower body temperature. These data indicate that caution should be exercised when the relationship estimated for mod- ern birds is applied to their basal counterparts that likely had a metabolism intermediate between that of their theropod dino- saur ancestors and that of advanced ornithurines

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

International audienc

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

International audienc

Clinical and genetic characteristics of late-onset Huntington's disease

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P <.001). Overall motor and cognitive performance (P <.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P <.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P <.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P <.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients