Abstract Background Familial involvement is common in dilated cardiomyopathy (DCM) and >40 genes have been implicated in causing disease. However, the role of genetic testing in clinical practice is ...not well defined. We examined the experience of clinical genetic testing in a diverse DCM population to characterize the prevalence and predictors of gene mutations. Methods and Results We studied 264 unrelated adult and pediatric DCM index patients referred to 1 reference lab for clinical genetic testing. Up to 10 genes were analyzed ( MYH7 , TNNT2 , TNNI3 , TPM1 , MYBPC3 , ACTC , LMNA , PLN , TAZ , and LDB3 ), and 70% of patients were tested for all genes. The mean age was 26.6 ± 21.3 years, and 52% had a family history of DCM. Rigorous criteria were used to classify DNA variants as clinically relevant (mutations), variants of unknown clinical significance (VUS), or presumed benign. Mutations were found in 17.4% of patients, commonly involving MYH7 , LMNA , or TNNT2 (78%). An additional 10.6% of patients had VUS. Genetic testing was rarely positive in older patients without a family history of DCM. Conversely in pediatric patients, family history did not increase the sensitivity of genetic testing. Conclusions Using rigorous criteria for classifying DNA variants, mutations were identified in 17% of a diverse group of DCM index patients referred for clinical genetic testing. The low sensitivity of genetic testing in DCM reflects limitations in both current methodology and knowledge of DCM-associated genes. However, if mutations are identified, genetic testing can help guide family management.
A Dietary Intervention in Urban African Americans Miller, Edgar R., MD, PhD; Cooper, Lisa A., MD, MPH; Carson, Kathryn A., ScM ...
American journal of preventive medicine,
2016, January 2016, 2016-01-00, Letnik:
50, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Introduction Unhealthy diets, often low in potassium, likely contribute to racial disparities in blood pressure. We tested the effectiveness of providing weekly dietary advice, assistance with ...selection of higher potassium grocery items, and a $30 per week food allowance on blood pressure and other outcomes in African American adults with hypertension. Design We conducted an 8-week RCT with two parallel arms between May 2012 and November 2013. Setting/participants We randomized 123 African Americans with controlled hypertension from an urban primary care clinic in Baltimore, Maryland, and implemented the trial in partnership with a community supermarket and the Baltimore City Health Department. Mean (SD) age was 58.6 (9.5) years; 71% were female; blood pressure was 131.3 (14.7)/77.2 (10.5) mmHg; BMI was 34.5 (8.2); and 28% had diabetes. Intervention Participants randomized to the active intervention group (Dietary Approaches to Stop Hypertension DASH–Plus) received coach-directed dietary advice and assistance with weekly online ordering and purchasing of high-potassium foods ($30/week) delivered by a community supermarket to a neighborhood library. Participants in the control group received a printed DASH diet brochure along with a debit account of equivalent value to that of the DASH-Plus group. Main outcome measures The primary outcome was blood pressure change. Analyses were conducted in January to October 2014. Results Compared with the control group, the DASH-Plus group increased self-reported consumption of fruits and vegetables (mean=1.4, 95% CI=0.7, 2.1 servings/day); estimated intake of potassium (mean=0.4, 95% CI=0.1, 0.7 grams/day); and urine potassium excretion (mean=19%, 95% CI=1%, 38%). There was no significant effect on blood pressure. Conclusions A program providing dietary advice, assistance with grocery ordering, and $30/week of high-potassium foods in African American patients with controlled hypertension in a community-based clinic did not reduce BP. However, the intervention increased consumption of fruits, vegetables, and urinary excretion of potassium.
Introduction A demonstration project in Richmond, Virginia involved patients and other stakeholders in the creation of a research agenda on dietary and behavioral management of diabetes and ...hypertension. Given the impact of these diseases on morbidity and mortality, considerable research has been directed at the challenges patients face in chronic disease management. The continuing need to understand disparities and find evidence-based interventions to improve outcomes has been fruitful, but disparities and unmet needs persist. Methods The Stakeholder Engagement in Question Development (SEED) method is a stakeholder engagement methodology that combines engagement with a review of available evidence to generate research questions that address current research gaps and are important to patients and other stakeholders. Using the SEED method, patients and other stakeholders participated in research question development through a combination of collaborative, participatory, and consultative engagement. Steps in the process included: (1) identifying the topic and recruiting participants; (2) conducting focus groups and interviews; (3) developing conceptual models; (4) developing research questions; and (5) prioritizing research questions. Results Stakeholders were involved in the SEED process from February to August 2015. Eighteen questions were prioritized for inclusion in the research agenda, covering diverse domains, from healthcare provision to social and environmental factors. Data analysis took place September to May 2016. During this time, researchers conducted a literature review to target research gaps. Conclusions The stakeholder-prioritized, novel research questions developed through the SEED process can directly inform future research and guide the development of evidence that translates more directly to clinical practice.
To cross-validate the psychometric properties of the abbreviated Late-Life Function and Disability Instrument (LL-FDI), a measure of perceived functional limitations and disability.
Baseline and ...12-month follow-up assessments conducted across the course of a 12-month exercise program.
University research community.
Older healthy adults (N=179; mean ± SD age, 66.43±5.67y) at baseline; 145 were retained at follow-up.
Not applicable.
LL-FDI and functional performance measures.
Factor analyses confirmed the factor structure of the abbreviated LL-FDI, and all subscales met minimal criteria for temporal invariance. Significant correlations also were found between functional limitations subscales and an array of physical function performance measures, supporting the scale's construct validity.
The abbreviated LL-FDI with some modifications appears to be temporally invariant in community-dwelling older adults. Additionally, moderate relationships between functional limitations and functional performance provide further support for these being conceptually distinct constructs.
Background Self-efficacy and the use of self-regulatory strategies are consistently associated with physical activity behavior. Similarly, behavioral inhibition and cognitive resource ...allocation—indices of executive control function—have also been associated with this health behavior. Purpose The purpose of this study was to examine the hypothesis that self-efficacy mediates the relationship between self-regulatory processes, such as executive function, and sustained exercise behavior. Methods Older adults (N = 177, mean age=66.44 years) completed measures of executive function, self-reported use of self-regulatory strategies, and self-efficacy prior to and during the first month of a 12-month exercise intervention. Percentage of exercise classes attended over the following 11 months was used to represent adherence. Data were collected from 2007 to 2010 and analyzed in 2010–2011. Structural equation models were tested examining the effect of executive function and strategy use on adherence via efficacy. Results As hypothesized, results showed significant direct effects of two elements of executive function and of strategy use on self-efficacy and of efficacy on adherence. In addition, there were significant indirect effects of strategy use and executive function on adherence via self-efficacy. Conclusions Higher levels of executive function and use of self-regulatory strategies at the start of an exercise program enhance beliefs in exercise capabilities, which in turn leads to greater adherence. Trial registration number This study is registered in Clinicaltrials.gov ( NCT 00438347 ).
Background Female urinary microbiota are associated with urgency urinary incontinence and response to medication. The urinary microbiota of women with stress urinary incontinence has not been ...described. Objective We sought to study the cross-sectional relationships between urinary microbiota features and demographic and clinical characteristics of women undergoing stress urinary incontinence surgery. Study Design Preoperative urine specimens were collected from women without urinary tract infection and were available from 197 women (174 voided, 23 catheterized) enrolled in a multicenter prospective randomized trial, the Value of Urodynamic Evaluation study. Demographic and clinical variables were obtained including stress and urgency urinary incontinence symptoms, menopausal status, and hormone use. The bacterial composition of the urine was qualitatively assessed by sequencing the bacterial 16S ribosomal RNA gene. Phylogenetic relatedness and microbial alpha diversity were compared to demographics and symptoms using generalized estimating equation models. Results The majority of 197 urine samples (86%) had detectable bacterial DNA. Bacterial diversity was significantly associated with higher body mass index ( P = .02); increased Medical, Epidemiologic, and Social Aspects of Aging urge index score ( P = .04); and hormonal status ( P < .001). No associations were detected with stress urinary incontinence symptoms. Increased diversity was also associated with a concomitant lower frequency of Lactobacillus in hormone-negative women. Conclusion Women undergoing stress urinary incontinence surgery have detectable urinary microbiota. This cross-sectional analysis revealed that increased diversity of the microbiota was associated with urgency urinary incontinence symptoms, hormonal status, and body mass index. In contrast, the female urinary microbiota were not associated with stress urinary incontinence symptoms.
To develop a parameter that can assess the relative rate of progression of geographic atrophy (GA) based on the hypothesis that noncircular configuration of the atrophic lesion may be a risk factor ...for enlargement.
Cohort study.
Digitized color photographs of 593 eyes with GA from the Age-Related Eye Disease Study (AREDS).
A novel parameter called the "Geographic Atrophy Circularity Index" (GACI) was developed on the basis of area and perimeter measurements to categorize the irregularity of the shape of GA. The GACI ranges from 0.0 to 1.0 and is categorized into 3 groups: 0.25 (very irregular), 0.25 to <0.75 (partly irregular), and ≥ 0.75 (circular).
Growth rate of GA.
The mean growth rate in the 3 categories was 0.40 (± 0.18), 0.36 (± 0.30), and 0.21 (± 0.22) mm/year, respectively (P < 0.001). By adjusting for known confounders, baseline area, duration of GA, and configuration, GACI categories were significantly associated with increased growth rate of GA (P < 0.001).
The GACI was associated with the progression rate of GA and may be a useful measure for clinical trial eligibility. The association also suggests that enlargement of GA may be related to the extent of the junctional zone of damaged retinal pigment epithelium, which increases with noncircularity for a given GA area.
Background
In the 5 years that have passed since the publication of the 2018 International Consensus Statement on Allergy and Rhinology: Allergic Rhinitis (ICAR‐Allergic Rhinitis 2018), the ...literature has expanded substantially. The ICAR‐Allergic Rhinitis 2023 update presents 144 individual topics on allergic rhinitis (AR), expanded by over 40 topics from the 2018 document. Originally presented topics from 2018 have also been reviewed and updated. The executive summary highlights key evidence‐based findings and recommendation from the full document.
Methods
ICAR‐Allergic Rhinitis 2023 employed established evidence‐based review with recommendation (EBRR) methodology to individually evaluate each topic. Stepwise iterative peer review and consensus was performed for each topic. The final document was then collated and includes the results of this work.
Results
ICAR‐Allergic Rhinitis 2023 includes 10 major content areas and 144 individual topics related to AR. For a substantial proportion of topics included, an aggregate grade of evidence is presented, which is determined by collating the levels of evidence for each available study identified in the literature. For topics in which a diagnostic or therapeutic intervention is considered, a recommendation summary is presented, which considers the aggregate grade of evidence, benefit, harm, and cost.
Conclusion
The ICAR‐Allergic Rhinitis 2023 update provides a comprehensive evaluation of AR and the currently available evidence. It is this evidence that contributes to our current knowledge base and recommendations for patient evaluation and treatment.
Improving Handoffs in the Emergency Department Cheung, Dickson S., MD, MBA, MPH; Kelly, John J., DO; Beach, Christopher, MD ...
Annals of emergency medicine,
02/2010, Letnik:
55, Številka:
2
Journal Article
Recenzirano
Patient handoffs at shift change are a ubiquitous and potentially hazardous process in emergency care. As crowding and lengthy evaluations become the standard for an increasing proportion of ...emergency departments (EDs), the number of patients handed off will likely increase. It is critical now more than ever before to ensure that handoffs supply valid and useful shared understandings between providers at transitions of care. The purpose of this article is to provide the most up-to-date evidence and collective thinking about the process and safety of handoffs between physicians in the ED. It offers perspectives from other disciplines, provides a conceptual framework for handoffs, and categorizes models of existing practices. Legal and risk management issues are also addressed. A proposal for the development of handoff quality measures is outlined. Practical strategies are suggested to improve ED handoffs. Finally, a research agenda is proposed to provide a roadmap to future work that may increase knowledge in this area.
Medical simulation allows trainees to experience realistic patient situations without exposing patients to the risks inherent in trainee learning and is adaptable to situations involving widely ...varying clinical content. Although medical simulation is becoming more widely used in medical education, it is typically used as a complement to existing educational strategies. Our approach, which involved a complete curriculum redesign to create a fully integrated medical simulation model with an “all at once” implementation, represents a significant departure from conventional graduate medical education models. We applied adult learning principles, medical simulation learning theory, and standardized national curriculum requirements to create an innovative set of simulation-based modules for integration into our emergency medicine residency curriculum. Here we describe the development of our simulation modules using various simulation technologies, their implementation, and our experiences during the first year of integration.
PDF
