Congenital aortic stenosis due to unicuspid unicommissural aortic valve: a case report

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesBACKGROUND: Unicuspid unicommissural aortic valve is an extremely rare congenital anomaly that usually presents in adulthood but can rarely present in infancy. We report a 17-year-old patient with congenital aortic stenosis secondary to unicuspid unicommissural aortic valve that was successfully treated with aortic valve replacement. CASE PRESENTATION: The patient was diagnosed with aortic stenosis after a murmur was heard in the newborn nursery and subsequently underwent aortic balloon valvuloplasty 6 weeks after birth. He had been regularly followed up since and underwent numerous cardiac catheterizations, including another aortic balloon valvuloplasty at age 13. During follow-up at age 17, the patient presented with symptomatic severe aortic stenosis and mild left ventricular hypertrophy. Aortic valve replacement was planned since the patient was nearly adult-sized and to reduce the risk of cardiac decompensation. During the operation an unicuspid unicommissural aortic valve was revealed. The patient recovered well post-operatively. He was discharged 5 days after the surgery in good condition and was completely symptom-free at follow-up 6 weeks later. CONCLUSIONS: Unicuspid aortic valve is a rare congenital anomaly that can cause congenital aortic stenosis. It is seldom diagnosed pre-operatively but should be suspected in infants presenting with aortic stenosis

Life Cycle Assessment as a tool for resource optimisation of continuous basalt fibre production in Iceland

Continuous Basalt Fibre (CBF) is a structural material formed from molten rocks and is analogous to glass fibre. The concept of using molten rock to form fibres dates back to the start of the last century. The inception of more comprehensive research took place in the 1970s, by former Soviet countries. The largest active mines today are located in Ukraine and Russia. The market is steadily developing as production becomes more economically viable, and CBF becomes more readily known and tested. Continuous basalt fibres are ideally suited for demanding applications that require high temperatures, chemical resistance, durability, mechanical strength and low water absorption. CBF therefore has a large potential within the construction industry. Greenbas is a project led by Innovation Centre Iceland and funded by NORDMIN. It investigates the extraction of volcanic basalt, for the optimised, sustainable production of CBF in Iceland. Life cycle assessment (LCA) is a useful tool for the assessment of environmental impacts, including greenhouse gas (GHG) emissions. LCA has been used to address every step of the future production chain of CBF in Iceland; from the mining and crushing of rocks, to the fibre production of CBF using various energy mixes. This future production chain has been compared to current CBF production in Russia, in order to optimise production in terms of consistency, quality, cost and GHG emissions. This research is relevant to conference topics: \u27LCA and other assessment tools for waste and resource management and planning\u27 and \u27life cycle engineering and sustainable manufacturing.\u27 Please click Additional Files below to see the full abstract

Monitoring permanent CO2 storage by in situ mineral carbonation using a reactive tracer technique

AbstractIn situ mineral carbonation provides the most effective and permanent solution for geologic CO2 storage. Basaltic rocks have the potential to store large volumes of CO2 as (Ca, Mg, Fe) carbonates [1]. Existing monitoring and verification techniques for geologic CO2 storage are insufficient to quantitatively characterize solubility and mineral trapping in a geologic reservoir. We developed and tested a new reactive tracer technique for quantitative monitoring and detection of dissolved and chemically transformed CO2. The technique involves the active tagging of the injected CO2 with low levels of radiocarbon (14C) as a reactive tracer in combination with the injection of non-reactive tracers such as sulfurhexafluoride (SF6) and trifluoromethylsulphur pentafluoride (SF5CF3). The tracer technique has been applied at the CarbFix pilot injection site in Hellisheidi, Iceland as part of a comprehensive geochemical monitoring program during two injection phases; Phase III and IV. SF6 and SF5CF3 confirm the arrival of the injected CO2 and CO2+H2S solutions at the first observation well HN04, which is 125m west of the injection well at 520 m depth. The initial breakthrough of the migrating dissolved CO2 front occurred 63 and 62 days after injection began as evidenced by an initial peak in the SF6, SF5CF3, 14C, and dissolved inorganic carbon (DIC) concentrations. The major increase in the non-reactive tracer concentrations occurred several months after the initial breakthrough, although no major concentration increase has been observed for 14C and DIC suggesting that mineral reactions are dominant during CO2 injection

Analysing the Large Decline in Coronary Heart Disease Mortality in the Icelandic Population Aged 25-74 between the Years 1981 and 2006

BACKGROUND: Coronary heart disease (CHD) mortality rates have been decreasing in Iceland since the 1980s. We examined how much of the decrease between 1981 and 2006 could be attributed to medical and surgical treatments and how much to changes in cardiovascular risk factors. METHODOLOGY: The previously validated IMPACT CHD mortality model was applied to the Icelandic population. The data sources were official statistics, national quality registers, published trials and meta-analyses, clinical audits and a series of national population surveys. PRINCIPAL FINDINGS: Between 1981 and 2006, CHD mortality rates in Iceland decreased by 80% in men and women aged 25 to 74 years, which resulted in 295 fewer deaths in 2006 than if the 1981 rates had persisted. Incidence of myocardial infarction (MI) decreased by 66% and resulted in some 500 fewer incident MI cases per year, which is a major determinant of possible deaths from MI. Based on the IMPACT model approximately 73% (lower and upper bound estimates: 54%-93%) of the mortality decrease was attributable to risk factor reductions: cholesterol 32%; smoking 22%; systolic blood pressure 22%, and physical inactivity 5% with adverse trends for diabetes (-5%), and obesity (-4%). Approximately 25% (lower and upper bound estimates: 8%-40%) of the mortality decrease was attributable to treatments in individuals: secondary prevention 8%; heart failure treatments 6%; acute coronary syndrome treatments 5%; revascularisation 3%; hypertension treatments 2%, and statins 0.5%. CONCLUSIONS: Almost three quarters of the large CHD mortality decrease in Iceland between 1981 and 2006 was attributable to reductions in major cardiovascular risk factors in the population. These findings emphasize the value of a comprehensive prevention strategy that promotes tobacco control and a healthier diet to reduce incidence of MI and highlights the potential importance of effective, evidence based medical treatments

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

Rapid solubility and mineral storage of CO2 in basalt

The long-term security of geologic carbon storage is critical to its success and public acceptance. Much of the security risk associated with geological carbon storage stems from its buoyancy. Gaseous and supercritical CO2 are less dense than formation waters, providing a driving force for it to escape back to the surface. This buoyancy can be eliminated by the dissolution of CO2 into water prior to, or during its injection into the subsurface. The dissolution makes it possible to inject into fractured rocks and further enhance mineral storage of CO2 especially if injected into silicate rocks rich in divalent metal cations such as basalts and ultra-mafic rocks. We have demonstrated the dissolution of CO2 into water during its injection into basalt leading to its geologic solubility storage in less than five minutes and potential geologic mineral storage within few years after injection [1–3]. The storage potential of CO2 within basaltic rocks is enormous. All the carbon released from burning of all fossil fuel on Earth, 5000 GtC, can theoretically be stored in basaltic rocks [4]

Heterologous Expression and Maturation of an NADP-Dependent [NiFe]-Hydrogenase: A Key Enzyme in Biofuel Production

Hydrogen gas is a major biofuel and is metabolized by a wide range of microorganisms. Microbial hydrogen production is catalyzed by hydrogenase, an extremely complex, air-sensitive enzyme that utilizes a binuclear nickel-iron [NiFe] catalytic site. Production and engineering of recombinant [NiFe]-hydrogenases in a genetically-tractable organism, as with metalloprotein complexes in general, has met with limited success due to the elaborate maturation process that is required, primarily in the absence of oxygen, to assemble the catalytic center and functional enzyme. We report here the successful production in Escherichia coli of the recombinant form of a cytoplasmic, NADP-dependent hydrogenase from Pyrococcus furiosus, an anaerobic hyperthermophile. This was achieved using novel expression vectors for the co-expression of thirteen P. furiosus genes (four structural genes encoding the hydrogenase and nine encoding maturation proteins). Remarkably, the native E. coli maturation machinery will also generate a functional hydrogenase when provided with only the genes encoding the hydrogenase subunits and a single protease from P. furiosus. Another novel feature is that their expression was induced by anaerobic conditions, whereby E. coli was grown aerobically and production of recombinant hydrogenase was achieved by simply changing the gas feed from air to an inert gas (N2). The recombinant enzyme was purified and shown to be functionally similar to the native enzyme purified from P. furiosus. The methodology to generate this key hydrogen-producing enzyme has dramatic implications for the production of hydrogen and NADPH as vehicles for energy storage and transport, for engineering hydrogenase to optimize production and catalysis, as well as for the general production of complex, oxygen-sensitive metalloproteins

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