Functional analysis of CFTR promoter DNA variants

Cystic Fibrosis (CF) is an autosomal recessive disease that affects 1 in 3500 people in the United States. CF affects epithelial cells in areas such as the lungs, GI tract and reproductive system. The disease is caused by variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which result in mutations in the CFTR protein. However, some CF patients who have the same genotype for the CFTR gene experience different severities of the disease. One explanation for this is that CFTR promoter SNPs influence gene expression which could lead to differing severities of CF. To test this hypothesis, luciferase reporter constructs with CFTR promoter single nucleotide polymorphisms (SNPs) were created to test gene expression changes. Using this method, SNP 1666T\u3eC was found to significantly decrease gene expression

Evaluation Of Decision Making Methods For Integrated Water Resource Management Under Uncertainty

Water companies and utilities in the UK are required to produce Water Resource Management Plans (WRMPs) every five years that outline their future strategies for maintaining a secure water supply to meet anticipated demand levels. Regulatory frameworks differ around the world but in most countries similar plans are developed under the auspices of Integrated Water Resources Management (IWRM) programmes. The plans justify new demand management and water supply infrastructure needed and validate management decisions. One of the greatest problems now facing decision makers in the water industry are the increasing uncertainties in the variables used in estimating the supply and demand balance due to increased levels of climate change. WRMPs in the future will need to deliver plans that can adapt water systems to face a widening variation of possible future states; with increased consideration to uncertain water availability, resource deterioration and demand levels. This paper reviews several established decision making methods and analyses their performance and suitability within an IWRM problem. The methods include Info-Gap decision theory, Robust Optimisation, Minimax Regret, Laplace theory and Maximin theory. These methods have been designed to aid decision making under severe uncertainty but differences exist in their approach and attitude to risk. For example, the Info-Gap methodology offers solutions that provide robustness of sufficing over a wide range of uncertainty, but is highly dependent on initial parameter settings. Robust Optimisation concentrates on optimising for robustness over a set of objective functions instead of satisfying a set of constraints. Laplace, Maximin and Minimax Regret are all classical decision methods that implicitly reflect a particular attitude to risk when dealing with severe uncertainty. These methods were applied to a case study resembling the Sussex North region in England, assessing their applicability at improving the IWRM problem and highlighting the strengths and weaknesses of each method

Factors Associated with Memory of Informal Caregivers: A Scoping Review Protocol

The ability to retain and remember information (memory) is essential to caregiving tasks. There is evidence that caregivers are at greater risk for experiencing deteriorations in cognitive status, especially memory, than non-caregivers; however, we have limited understanding of factors that are related to changes in caregiver memory. This review intends to determine factors that impact memory of caregivers within the chronic caregiving context. Specific aims include (1) identifying factors related to caregiver memory; (2) examining how caregiver memory has been measured; and (3) describing changes in caregiver memory during their caregiving period

Cultural and Linguistic Adaptation of Health Interventions and Measurements for Spanish-speaking Participants: A Scoping Review Protocol

Cultural/Linguistic adaptation of health interventions and measurements for Spanish-speaking participant

Trajectories of Health Recovery after Hip Fracture in Older Adults: A Scoping Review Protocol

The number of hip fracture cases is growing due to a rapidly aging population globally. Recovery outcomes after hip fracture in older adults are characterized by high mortality at around 18-30%, lowered functional status, and feeling of being vulnerable and disrupted from a normal life. Studying hip fracture recovery outcomes through the lens of resilience may provide new perspectives for understanding protective factors that can promote recovery after health-related stressors among individuals. One way to understand resilient responses is to model the trajectories of outcomes. Current knowledge of recovery over time and how trajectories vary in hip fracture patients is still lacking. The objective of this scoping review is therefore to assess the extent of the literature and map evidence on how health outcomes in multiple domains change over at least three time points after hip fracture in older adults. The review will also pay attention to the subgroup of older adults with dementia who are more likely to fracture their hip due to higher risk for fall and experience worse recovery outcomes

Trajectories of Health Recovery after Hip Fracture in Older Adults: A Scoping Review Protocol

The number of hip fracture cases is growing due to a rapidly aging population globally. Recovery outcomes after hip fracture in older adults are characterized by high mortality at around 18-30%, lowered functional status, and feeling of being vulnerable and disrupted from a normal life. Studying hip fracture recovery outcomes through the lens of resilience may provide new perspectives for understanding protective factors that can promote recovery after health-related stressors among individuals. One way to understand resilient responses is to model the trajectories of outcomes. Current knowledge of long-term recovery over time and how trajectories vary in hip fracture patients is still lacking. The objective of this scoping review is therefore to assess the extent of the literature and map evidence on how health outcomes in multiple domains change over at least three months with at least three time points after hip fracture in older adults. The review will also pay attention to the subgroup of older adults with dementia who are more likely to fracture their hip due to higher risk for fall and experience worse recovery outcomes