CYP17 promoter polymorphism and breast cancer risk in males and females in relation to BRCA2 status

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldA T-C polymorphism in the promoter region of the CYP17 gene has been associated with male and female breast cancer risk as well as early-onset familial breast cancer. The potential role of this polymorphism was investigated in relation to breast cancer risk in Icelandic male and female carriers and noncarriers of a BRCA2 mutation. The study population consisted of 39 male and 523 female breast cancer cases and 309 male and 395 female controls. Of the cases, 15 males and 55 females carried a BRCA2 mutation. We did not find a significant association between male breast cancer risk and CYP17 genotypes. Among male breast cancer cases, the frequency of the CC genotype was higher among carriers of the 999del5 mutation (33.3%) than noncarriers (16.7%), although this difference also did not reach a statistical significance. No association was observed with breast cancer risk among females irrespective of menopausal status, stage of the disease or BRCA2 status. Our findings do not indicate a role for the CYP17 T-C polymorphism in female breast cancer, but a role in male carriers of a BRCA2 mutation could not be excluded because of the small sample size

Chronic kidney disease after liver, cardiac, lung, heart–lung, and hematopoietic stem cell transplant

Patient survival after cardiac, liver, and hematopoietic stem cell transplant (HSCT) is improving; however, this survival is limited by substantial pretransplant and treatment-related toxicities. A major cause of morbidity and mortality after transplant is chronic kidney disease (CKD). Although the majority of CKD after transplant is attributed to the use of calcineurin inhibitors, various other conditions such as thrombotic microangiopathy, nephrotic syndrome, and focal segmental glomerulosclerosis have been described. Though the immunosuppression used for each of the transplant types, cardiac, liver and HSCT is similar, the risk factors for developing CKD and the CKD severity described in patients after transplant vary. As the indications for transplant and the long-term survival improves for these children, so will the burden of CKD. Nephrologists should be involved early in the pretransplant workup of these patients. Transplant physicians and nephrologists will need to work together to identify those patients at risk of developing CKD early to prevent its development and progression to end-stage renal disease

Heat transfer problems for the production of hydrogen from geothermal energy

Electrolysis at low temperature is currently used to produce Hydrogen. From a thermodynamic point of view, it is possible to improve the performance of electrolysis while functioning at high temperature (high temperature electrolysis: HTE). That makes it possible to reduce energy consumption but requires a part of the energy necessary for the dissociation of water to be in the form of thermal energy.A collaboration between France and Iceland aims at studying and then validating the possibilities of producing hydrogen with HTE coupled with a geothermal source. The influence of the exit temperature on the cost of energy consumption of the drilling well is detailed.To vaporize the water to the electrolyser, it should be possible to use the same technology currently used in the Icelandic geothermal context for producing electricity by using a steam turbine cycle. For heating the steam up to the temperature needed at the entrance of the electrolyser three kinds of heat exchangers could be used, according to specific temperature intervals

Heat transfer problems for the production of hydrogen from geothermal energy

International audienceElectrolysis at low temperature is currently used to produce Hydrogen. From a thermodynamic point of view, it is possible to improve the performance of electrolysis while functioning at high temperature (high temperature electrolysis: HTE). That makes it possible to reduce energy consumption but requires a part of the energy necessary for the dissociation of water to be in the form of thermal energy. A collaboration between France and Iceland aims at studying and then validating the possibilities of producing hydrogen with HTE coupled with a geothermal source. The influence of the exit temperature on the cost of energy consumption of the drilling well is detailed. To vaporize the water to the electrolyser, it should be possible to use the same technology currently used in the Icelandic geothermal context for producing electricity by using a steam turbine cycle. For heating the steam up to the temperature needed at the entrance of the electrolyser three kinds of heat exchangers could be used, according to specific temperature intervals

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland

Background Long‐QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes KCNQ1, KCNH2, and SCN5A. The data on LQTS epidemiology are limited, and information on expressivity and penetrance of pathogenic variants is sparse. Methods and Results We screened for rare coding variants associated with the corrected QT (QTc) interval in Iceland. We explored the frequency of the identified variants, their penetrance, and their association with severe events. Twelve variants were associated with the QTc interval. Five in KCNQ1, 3 in KCNH2, 2 in cardiomyopathy genes MYBPC3 and PKP2, and 2 in genes where coding variants have not been associated with the QTc interval, ISOC1 and MYOM2. The combined carrier frequency of the 8 variants in the previously known LQTS genes was 530 per 100 000 individuals (1:190). p.Tyr315Cys and p.Leu273Phe in KCNQ1 were associated with having a mean QTc interval longer than 500 ms (P=4.2×10−7; odds ratio [OR], 38.6; P=8.4×10−10, OR, 26.5; respectively), and p.Leu273Phe was associated with sudden cardiac death (P=0.0034; OR, 2.99). p.Val215Met in KCNQ1 was carried by 1 in 280 Icelanders, had a smaller effect on the QTc interval (P=1.8×10−44; effect, 22.8 ms), and did not associate with severe clinical events. Conclusions The carrier frequency of associating variants in LQTS genes was higher than previous estimates of the prevalence of LQTS. The variants have variable effects on the QTc interval, and carriers of p.Tyr315Cys and p.Leu273Phe have a more severe disease than carriers of p.Val215Met. These data could lead to improved identification, risk stratification, and a more precise clinical approach to those with QTc prolongation

Rapid carbon mineralization for permanent disposal of anthropogenic carbon dioxide emissions

© 2016, American Association for the Advancement of Science. All rights reserved.Carbon capture and storage (CCS) provides a solution toward decarbonization of the global economy. The success of this solution depends on the ability to safely and permanently store CO2. This study demonstrates for the first time the permanent disposal of CO2 as environmentally benign carbonate minerals in basaltic rocks. We find that over 95% of the CO2 injected into the CarbFix site in Iceland was mineralized to carbonate minerals in less than 2 years. This result contrasts with the common view that the immobilization of CO2 as carbonate minerals within geologic reservoirs takes several hundreds to thousands of years. Our results, therefore, demonstrate that the safe long-term storage of anthropogenic CO2 emissions through mineralization can be far faster than previously postulated