Factors influencing recovery from mild traumatic brain injury.

Primary Objective: This study determined whether initial GCS score, head CT results, cognitive performance on IMPACT testing, or APOE genotype most effectively predicted 1-month functional outcome after mild traumatic brain injury (mTBI). This study tested the hypotheses that participants with poor performance on initial cognitive testing and those with an APOEe4 genotype would exhibit a poorer 1-month recovery after mTBI.

Research Design: Regression analysis determined which independent variables were most effective in predicting 1-month GOS-E or DRS score.

The Physical Activity and Alzheimer's Disease (PAAD) Study: Cognitive outcomes.

Background: Alzheimer's disease is a progressive disease that degrades cognitive functioning and ultimately results in death. Currently, there is no cure for Alzheimer's disease and, hence, the identification of preventative strategies is important. Physical activity (PA) is a behavioral intervention that holds promise with respect to delaying the onset of Alzheimer's disease.

Further evidence of the limited role of candidate genes in relation to infant-mother attachment outcomes.

In this paper, we examine the associations between specific candidate genes (DRD2, DRD4, COMT, biallelic and tri-allelic 5HTTLPR, and OXTR) and infant attachment outcomes as main effects and in conjunction with maternal sensitivity. The sample included 200 infants (97 European American, 94 African-American, and 9 biracial) and their mothers. Maternal sensitivity and overtly negative maternal behavior were observed when infants were 6 months and 1 year old in distress-eliciting contexts, attachment was assessed via the Strange Situation at age 1, and DNA samples were collected when children were 2 years old.

Family health history: an essential starting point for personalized risk assessment and disease prevention.

Family health history (FHH) information is well established as a basis for assessing a patient's personal disease risk, but is underutilized for diagnosis and making medical recommendations. Epidemiological and genetic information have heightened the value of FHH to an individual's health. This has motivated the development of new FHH collection tools and strategies for family members, but will require greater awareness and knowledge by both patients and practitioners.

A polymorphism in human estrogen-related receptor beta (ESRRβ) predicts audiometric temporary threshold shift.

Objective: A non-synonymous single nucleotide polymorphism (rs61742642; C to T, P386S) in the ligand-binding domain of human estrogen-related receptor beta (ESRRβ) showed possible association to noise-induced hearing loss (NIHL) in our previous study.

Design: This study was conducted to examine the effect of the ESRRβ rs61742642 T variant on temporary threshold shift (TTS). TTS was induced by 10 minutes of exposure to audiometric narrow-band noise centered at 2000 Hz.

Nano-SPRi Aptasensor for the Detection of Progesterone in Buffer.

Progesterone is a steroid hormone that plays a central role in the female reproductive processes such as ovulation and pregnancy with possible effects on other organs as well. The measurement of progesterone levels in bodily fluids can assist in early pregnancy diagnosis and can provide insight for other reproductive functions. In this work, the detection of progesterone was examined by integrating novel aptamer development with a nanoEnhanced surface plasmon resonance imaging sensor.

Clinical utility of a Web-enabled risk-assessment and clinical decision support program.

Purpose: Risk-stratified guidelines can improve quality of care and cost-effectiveness, but their uptake in primary care has been limited. MeTree, a Web-based, patient-facing risk-assessment and clinical decision support tool, is designed to facilitate uptake of risk-stratified guidelines.

Methods: A hybrid implementation-effectiveness trial of three clinics (two intervention, one control).

Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays.

Sensitive and selective methods for the detection of human growth hormone (hGH) over a wide range of concentrations (high levels of 50-100 ng ml(-) (1) and minimum levels of 0.03 ng ml(-) (1)) in circulating blood are essential as variable levels may indicate altered physiology. For example, growth disorders occurring in childhood can be diagnosed by measuring levels of hGH in blood.

Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.

Objective: Noise-induced hearing loss (NIHL) is a worldwide health problem and a growing concern among young people. Although some people appear to be more susceptible to NIHL, genetic association studies lack a specific phenotype. We tested the feasibility of a bilateral 4000-6000 Hz audiometric notch as a phenotype for identifying genetic contributions to hearing loss in young adults.

Nanopore Analysis of Single-Stranded Binding Protein Interactions with DNA.

We study the binding of E. coli single-stranded binding protein (SSB) to single-stranded DNA (ssDNA) using a solid-state nanopore assay. We find that saturated nucleoprotein complexes can be distinguished easily from free SSB, ssDNA, or double-stranded DNA individually and demonstrate that the high affinity of SSB for ssDNA can be exploited to achieve high-fidelity differentiation from duplex molecules in a mixture.

Innovative Research Design Exploring the Effects of Physical Activity and Genetics on Cognitive Performance in Community-Based Older Adults.

Physical activity is predictive of better cognitive performance and lower risk of Alzheimer's disease (AD). The apolipoprotein E gene (APOE) is a susceptibility gene for AD with the e4 allele being associated with a greater risk of AD. Cross-sectional and prospective research shows that physical activity is predictive of better cognitive performance for those at greater genetic risk for AD.

Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance.

Several barriers inhibit collection and use of detailed family health history (FHH) in primary care. MeTree, a computer-based FHH intake and risk assessment tool with clinical decision support, was developed to overcome these barriers. Here, we describe the impact of MeTree on genetic counseling (GC) referrals and attendance.

Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand.

Unlabelled: The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk-stratified evidence-based prevention guidelines using MeTree, a patient-facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population-level risk) patients identified for breast/ovarian cancer, colon cancer, hereditary syndrome risk, and thrombosis; the prevalence of FHH elements triggering increased-risk status; and the resources needed to manage their risk.

Study Design: hybrid implementation-effectiveness study of adults with upcoming well-visits in 2 primary care practices in Greensboro, NC.

Quality of family history collection with use of a patient facing family history assessment tool.

Background: Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a patient facing FHH assessment tool, MeTree.

Providing patient education: impact on quantity and quality of family health history collection.

Background: Family health history (FHH) is an underutilized tool in primary care to identify and risk-stratify individuals with increased cancer risk.

Objective: Evaluate the influence of patient education on quantity and quality of FHH entered into a primary care-based software program, and impact on the program's cancer risk management recommendations.

Design: Two primary care practices within a larger type II hybrid implementation-effectiveness controlled clinical trial.

Development and validation of a primary care-based family health history and decision support program (MeTree).

Introduction: Family health history is a strong predictor of disease risk. To reduce the morbidity and mortality of many chronic diseases, risk-stratified evidence-based guidelines strongly encourage the collection and synthesis of family health history to guide selection of primary prevention strategies. However, the collection and synthesis of such information is not well integrated into clinical practice.

Collection of family health history for assessment of chronic disease risk in primary care.

Background: Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care.

Methods: Family health history data were collected and analyzed to determine the presence of quality indicators that are necessary for effective and accurate assessment of disease risk.

Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial.

Background: Family health history (FHH) is the single strongest predictor of disease risk and yet is significantly underutilized in primary care. We developed a patient facing FHH collection tool, MeTree, that uses risk stratification to generate clinical decision support for breast cancer, colorectal cancer, ovarian cancer, hereditary cancer syndromes, and thrombosis. Here we present data on the experience of patients and providers after integration of MeTree into 2 primary care practices.

The genomic medicine model: an integrated approach to implementation of family health history in primary care.

As an essential tool for risk stratification, family health history (FHH) is a central component of personalized medicine; yet, despite its widespread acceptance among professional societies and its established place in the medical interview, its widespread adoption is hindered by three major barriers: quality of FHH collection, risk stratification capabilities and interpretation of risk stratification for clinical care. To overcome these barriers and bring FHH to the forefront of the personalized medicine effort, we developed the genomic medicine model (GMM) for primary care. The GMM, founded upon the principles of the Health Belief Model, Adult Learning Theory and the implementation sciences, shifts responsibility for FHH onto the patient, uses information technology (MeTree) for risk stratification and interpretation, and provides education across multiple levels for each stakeholder, freeing up the clinical encounter for discussion around personalized preventive healthcare plans.

Ligand binding pocket function of Drosophila USP is necessary for metamorphosis.

The widely accepted paradigm that epoxidized methyl farnesoates ("juvenile hormones," JHs) are the principal sesquiterpenoid hormones regulating insect metamorphosis was assessed in Drosophila melanogaster. GC-MS analysis of circulating methyl farnesoids during the mid to late 3rd instar showed that methyl farnesoate is predominant over methyl epoxyfarnesoate (=JH III). The circulating concentration of methyl farnesoate (reaching nearly 500 nM), was easily high enough on a kinetic basis to load the Drosophila ortholog of the nuclear hormone receptor RXR (also known as "ultraspiracle," USP), whereas the circulating concentrations of JH III and methyl bisepoxyfarnesoate (bisepoxyJH III) were not.

Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity.

Background: Genetic association studies demonstrate a relationship between several collagen gene variants and anterior cruciate ligament (ACL) injury, yet the mechanism of these relationships is still unclear. Joint laxity is a heritable trait; increased magnitudes of anterior knee laxity (AKL), genu recurvatum (GR), and general joint laxity (GJL) have been consistently associated with a greater risk of ACL injury. Joint laxity may constitute an important intermediate phenotype for the genetic association with ACL injury that can be measured clinically.

The use of a family history risk assessment tool within a community health care system: views of primary care providers.

Primary care providers (PCPs) offered input regarding the incorporation of a family health history (FHH) risk assessment tool into a community health care system (CHCS). Sixteen PCPs participated in one of three focus groups. Perceived impediments included the lack of standard screening guidelines, effective screening tests, genetic counseling resources, and services for high-risk patients.

Educational needs of primary care physicians regarding direct-to-consumer genetic testing.

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing.

Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system.

Background: The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research) framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina.

Methods/design: The family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis.

Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing.

The purpose of this study was to assess primary care physicians' awareness, experience, opinions and preparedness to answer patients' questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.