Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy

BackgroundLittle evidence is available on the disease expression in relatives of index patients with hypertrophic cardiomyopathy (HCM). This information has important implications for family screening programs, genetic counseling, and management of affected families.ObjectivesThe purpose of this study was to investigate the disease expression and penetrance in relatives of index patients carrying pathogenic/likely pathogenic (P/LP) variants in recognized HCM genes.MethodsA total of 453 consecutive and unrelated HCM index patients underwent clinical and genetic investigations. A total of 903 relatives of genotype-positive index patients were invited for clinical investigations and genetic testing. Penetrance, disease expression, and incidence rates of major adverse cardiac events (MACEs) were investigated in individuals carrying P/LP variants.ResultsForty percent (183/453) of index patients carried a P/LP variant. Eighty-four percent (757/903) of all relatives of index patients with P/LP variants were available for the investigation, of whom 54% (407/757) carried a P/LP variant. The penetrance of HCM among relatives was 39% (160/407). Relatives with HCM and index patients were diagnosed at a similar age (43 ± 18 years vs 46 ± 15 years; P = 0.11). There were no differences in clinical characteristics or incidence rates of MACE during 8 years of follow-up.ConclusionsThe disease expression of HCM among index patients and affected relatives carrying P/LP variants in recognized disease genes was similar, with an equal risk of experiencing MACE. These findings provide evidence to support family screening and follow-up of genotype-positive HCM families to improve management and diminish the number of adverse disease complications among relatives

Environmental life cycle assessments of producing maize, grass-clover, ryegrass and winter wheat straw for biorefinery

Unidad de excelencia María de Maeztu MdM-2015-0552The aim of this study is to assess the potential environmental impacts of producing maize, grass-clover, ryegrass, and straw from winter wheat as biomass feedstocks for biorefinery. The Life Cycle Assessment (LCA) method included the following impact categories: Global Warming Potential (GWP100), Eutrophication Potential (EP), Non-Renewable Energy use (NRE), Potential Fresh Water Ecotoxicity (PFWTox) and Potential Biodiversity Damages (PBD). The results showed that GWP100 (in kg CO2 eq, including contribution from soil carbon change) for producing 1 ton of dry matter (t DM) was highest for ryegrass, grass-clover and maize, and lowest for straw. The carbon footprints of ryegrass, grass-clover and maize were affected by including the contribution from soil organic carbon (SOC) changes. Nitrous oxide emissions and emissions related to the production of agro-chemicals (including N-fertilizer) were other hotspots in the carbon footprint. The EP calculated per t DM was highest for grass-clover, ryegrass and maize, and was lowest for straw. NRE use (MJ eq/t DM) was highest for ryegrass, grass-clover and maize and lowest for straw. Major hotspots were diesel use for field operations and agro-chemicals production. The PBD, expressed as Potentially Disappeared Fraction (PDF) showed the highest adverse impact to biodiversity in maize, followed by straw, whereas the results showed relatively lower impact for ryegrass and grass-clover. The PFWTox (CTUe/t DM), at farm level was highest for straw, followed by maize, whereas the values were significantly lower for grass-clover and ryegrass. These variations in ranking of the different biomasses productions using different impact categories for environmental performance showed that it is important to consider a wider range of impact categories for assessing environmental sustainability