12 research outputs found
La forêt dans le Plan Climat du Pays d'Aubagne et de l'Etoile : de la stratégie à la mise en uvre -
L'exemple de la communauté d'agglomération du Pays d'Aubagne et de l'Etoile est intéressant à double titre. Nous avons ici une collectivité qui a fait le choix politique de pas subir le changement climatique et qui se propose d'anticiper les évolutions climatiques à travers la mise en place d'une politique d'adaptation. Ce territoire est aussi exemplaire en matière forestière, car tout en utilisant les outils déjà existants à sa disposition, il s'ouvre au monde de la recherche et de l'expérimentation pour essayer de répondre concrètement aux nombreuses interrogations qui demeurent
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Item does not contain fulltextBACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS: Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m(2) increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers
La forêt dans le Plan Climat du Pays d'Aubagne et de l'Etoile : de la stratégie à la mise en uvre -
International audienceL'exemple de la communauté d'agglomération du Pays d'Aubagne et de l'Etoile est intéressant à double titre. Nous avons ici une collectivité qui a fait le choix politique de pas subir le changement climatique et qui se propose d'anticiper les évolutions climatiques à travers la mise en place d'une politique d'adaptation. Ce territoire est aussi exemplaire en matière forestière, car tout en utilisant les outils déjà existants à sa disposition, il s'ouvre au monde de la recherche et de l'expérimentation pour essayer de répondre concrètement aux nombreuses interrogations qui demeurent
Low absorption ZnGeP 2 single crystals for tunable mid IR laser applications
International audienceMid infrared (3-12 µm) laser sources are essential for applications such as optical counter-measures (missile jamming) for military and civil aircraft security or remote chemical sensing. The principle of those sources is based on non linear effect: a short wavelength laser emission (1 or 2 µm) is converted into two long wavelength laser emissions, with complementary energies, inside a non linear crystal in an Optical Parametric Oscillator (OPO). The first critical parameter for our applications is the transparency of the crystals in the mid-IR range. However, classical non linear oxide crystals, which have a transparency limited to 4 µm due to multiphonon absorptions, are not appropriate. Thus, to go beyond this limit, non oxide materials are required like phosphides, selenides sulfides… Moreover, other important parameters are the crystal’s resistance to high power and its non linear coefficients which have a direct influence on the energy conversion efficiency. ZnGeP2 (ZGP) presents a good compromise between these properties and is a ternary compound of choice considering the applications cited above. In this work, the high quality ZGP single crystal processing will be presented. It is divided into three main steps which will be precisely described: i) The chemical synthesis from high purity elements Zn, Ge and P which is carried out in a special designed furnace. The main difficulty of this step is to complete the chemical reaction while avoiding the reactor explosion which can occur because of the high vapor pressure of volatile compounds. ii) The crystal growth which is performed using the vertical Bridgman method. iii) Annealing post-treatments which are necessary to reduce the residual absorption around 2 µm. The absorption coefficient at this wavelength, which is the pumping wavelength for a ZGP based OPO, has to be as low as possible to increase the energy conversion efficiency. Crack free ZGP single crystals were grown following our process (Figure 1). Structural and optical quality characterizations will be presented and discussed. A very low absorption coefficient at 2 µm (~0.1 cm-1) was obtained.OPO tests as well as bigger crystal processing are currently in progress
Progress in Chemical Synthesis and Crystal Growth of Irradiation Free Low Absorption ZnGeP 2 for Infrared Nonlinear Conversion
International audienceWe present our recent progress in the synthesis, growth and post-treatment of low-absorption ZnGeP2. The current residual absorption level at 2 μm is of 0.15 cm-1 without resorting to electron irradiation. We also present our first results on nonlinear frequency conversion and related laser-induced damage threshold measurements
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD.
Ninety-five percent of BHD patients had multiple pulmonary cysts on computed tomography and 59% had experienced at least one pneumothorax. Mean values of forced expiratory volume in 1 second (FEV <sub>1</sub> ), forced vital capacity (FVC), FEV <sub>1</sub> /FVC ratio, and total lung capacity were normal at baseline. Mean (standard deviation) residual volume (RV) was moderately increased to 116 (36) %pred at baseline, and RV was elevated > 120%pred in 41% of cases. Mean (standard deviation) carbon monoxide transfer factor (DLco) was moderately decreased to 85 (18) %pred at baseline, and DLco was decreased < 80%pred in 33% of cases. When adjusted for age, gender, smoking and history of pleurodesis, lung function parameters did not significantly decline over a follow-up period of 6 years.
Cystic lung disease in BHD does not affect respiratory function at baseline except for slightly increased RV and reduced DLco. No significant deterioration of lung function occurs in BHD over a follow-up period of 6 years
Effects of Chemical Mechanical Polishing on the Laser Induced Damage Threshold of ZnGeP 2
International audienceIt is known that laser-induced damage in ZnGeP2 single crystals always initiates at the surfaces rather than in the bulk, making the surface preparation of major importance. We studied two chemical mechanical polishing processes. Peak to valley flatness and laser-induced damage threshold were analyzed and compared to commercial polish results