Genes for blood pressure: an opportunity to understand hypertension

Hypertension (HTN) is quantitatively the major cardiovascular risk factor and responsible for ∼50% of cardiovascular morbidity and mortality. Blood pressure (BP) is also a classical complex genetic trait with heritability estimates of 30-50%. Although much is known about BP regulation, the intrinsic origin of essential HTN remains obscure although many environmental factors are known. Analyses of rare monogenic syndromes of HTN have focused attention on pathways that involve renal sodium handling, and steroid hormone metabolism including the mineralocorticoid receptor activity. The genetic basis of common essential HTN on the other hand is only just becoming accessible through high-throughput approaches. Unbiased genome-wide analyses of BP genomics have identified 43 genetic variants associated with systolic, diastolic BP, and HTN. It is highly likely based on current findings that there are hundreds of such loci with small effects on BP, opening a perspective on the genetic architecture of BP that was unknown before. It is our hope that the knowledge of these and further loci will lead to improved understanding of BP pathophysiology and to the identification of new targets for drug therap

Ex ante impact and trade-off assessment of improved forage use in western Kenya

The dominant cut-and-carry forage grass in East Africa, Napier (Pennisetum purpureum), is suffering from increasing problems of stunt and head-smut diseases leading to important decreases in yield. Alternative improved forages have been developed and promoted by research and development organizations globally over the past couple of decades to diversify feed baskets and increase the quantity and quality of available feed. However, the use of these improved forages is associated with different yield potentials, land requirements, effects on livestock productivity, and related impacts on income and food security, which are influenced by agroecology, season, and management. Farmers’ preferences depend on their specific production objectives and challenges, and the weighing of these multi-dimensional benefits and trade-offs. The objective of this research was therefore to explore selected impacts and trade-offs as well as the role alternative forage grasses can play in the mixed crop-livestock systems of Kenya. Using data from a survey of 198 rural households in four counties in western Kenya, and on-farm forage and milk production trials, we assessed the use of two improved forage grasses, a Panicum maximum hybrid (Maasai) and a Brachiaria hybrid (Mulato II), under six different scenarios. We found that the replacement of Napier grass with Maasai forage by households that already produce cow milk has the potential to increase farm income by 10%. Moreover, the land-use savings associated with the greater yield potential of Maasai forage made it possible for nearly 20% of milk producing households to incorporate an additional dairy cow into their farming system with negligible trade-offs, or even positive effects, on food availability. Under the scenario of an additional cow and the use of Maasai forage grass annual farm income rose by 75%. We concluded that, although these potential benefits offered by Maasai grass may not be accessible to all farming households in the study areas due to problems in access to land and barriers to the production and commercialisation of milk of current non-milk producing households, they may be achievable by approximately 20% of them

Home Blood Pressure Monitoring: New Evidence for an Expanded Role

In a Perspective, Mark Caulfield discusses potential implications of using home blood pressure monitoring for diagnosis and treatment of hypertension. Please see later in the article for the Editors' Summar

Predicting deleterious nsSNPs: an analysis of sequence and structural attributes

BACKGROUND: There has been an explosion in the number of single nucleotide polymorphisms (SNPs) within public databases. In this study we focused on non-synonymous protein coding single nucleotide polymorphisms (nsSNPs), some associated with disease and others which are thought to be neutral. We describe the distribution of both types of nsSNPs using structural and sequence based features and assess the relative value of these attributes as predictors of function using machine learning methods. We also address the common problem of balance within machine learning methods and show the effect of imbalance on nsSNP function prediction. We show that nsSNP function prediction can be significantly improved by 100% undersampling of the majority class. The learnt rules were then applied to make predictions of function on all nsSNPs within Ensembl. RESULTS: The measure of prediction success is greatly affected by the level of imbalance in the training dataset. We found the balanced dataset that included all attributes produced the best prediction. The performance as measured by the Matthews correlation coefficient (MCC) varied between 0.49 and 0.25 depending on the imbalance. As previously observed, the degree of sequence conservation at the nsSNP position is the single most useful attribute. In addition to conservation, structural predictions made using a balanced dataset can be of value. CONCLUSION: The predictions for all nsSNPs within Ensembl, based on a balanced dataset using all attributes, are available as a DAS annotation. Instructions for adding the track to Ensembl are a

Evaluation of acute coronary syndrome risk by hospitalists to expedite discharge of low risk patients

Chest pain is a leading cause of Emergency Department (ED) visits. Risk stratification of risk for Acute Coronary Syndrome (ACS) is applied with variability. Revaluation of ACS risk by hospitalists may provide the opportunity to identify patients eligible for expedited discharge

Adolescents' experience with sports-related pain and injury: A systematic review of qualitative research

Objective: The aim of this review is to synthesise qualitative studies examining adolescents’ experience with pain and injury arising from sports participation. Methods: This review was registered on Open Science Framework prior to data extraction. A systematic search of PubMed, Embase, and SPORTDiscus was conducted. Studies were appraised using the CASP (critical appraisal skills programme) checklist. Data was synthesised using a meta aggregation. Study selection criteria: Inclusion criteria included studies related to adolescents aged 14–19yrs with sports related pain/injury, employed a qualitative design, full text publications in English. Results: Sixteen studies of 216 participants were included. Studies investigated severe knee injuries, concussion, or other musculoskeletal injuries. Synthesised findings show that, regardless of injury type, adolescents experience a mix of positive (motivation to rehab and return to sport, optimism) and negative emotions (fear of reinjury, isolation, depressive responses) throughout recovery. Common coping strategies were to ignore symptoms, modify activity levels, or seek support. Conclusion: Sports-related pain and injury has a multifaceted effect on the adolescent athlete. There is a pervasive fear of re-injury and social isolation, but the desire to return to sports is facilitated through motivation and support. Peer motivation effects the willingness of the adolescent to persist with rehabilitation