The vascular smooth muscle cell (SMC)-specific isoform of α-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 ...mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers have aortic disease. Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease MMD), as well as previously defined TAAD. Sequencing of DNA from patients with nonfamilial TAAD and from premature-onset CAD patients independently identified ACTA2 mutations in these patients and premature onset strokes in family members with ACTA2 mutations. Vascular pathology and analysis of explanted SMCs and myofibroblasts from patients harboring ACTA2 suggested that increased proliferation of SMCs contributed to occlusive diseases. These results indicate that heterozygous ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, including TAAD, premature CAD, ischemic strokes, and MMD. These data demonstrate that diffuse vascular diseases resulting from either occluded or enlarged arteries can be caused by mutations in a single gene and have direct implications for clinical management and research on familial vascular diseases.
Abstract Objective To compare quality of diabetes and cardiovascular disease (CVD) care between advanced practice providers (APPs) and physicians in a primary care setting. Research Design and ...Methods We identified diabetes (n = 1,022,588) and CVD (n = 1,187,035) patients receiving primary care between October 2013 and September 2014 in 130 Veterans Affairs facilities. We compared glycemic control (HbA1c< 7%) in diabetic patients, BP< 140/90 mmHg in diabetic or CVD patients, cholesterol control (LDL-C < 100 mg/dL, receiving a statin) in diabetic or CVD patients, and those receiving a beta-blocker (with history of myocardial infarction in the last 2 years) among patients receiving care from physicians and APPs. We also compared the proportion meeting composite measure (glycemic, BP, and cholesterol control in diabetic patients; BP, cholesterol control, and receipt of beta-blocker among eligible CVD patients). Results Diabetic patients receiving care from APPs were statistically more likely to have glycemic (50 vs. 51.4%, OR 1.06 1.05–1.08), BP control (77.5 vs.78.4%, OR 1.04 1.03–1.06) whereas, patients receiving care from physicians were more likely to have cholesterol control (receipt of statin 68 vs. 66.5%, OR 0.94 0.93–0.95) in adjusted models although, these differences are not clinically significant. Similar results were seen in CVD patients. Few patients met the composite measure (27.1% and 27.6% of diabetic and 54.0% and 54.8% of CVD patients receiving care from physicians and APPs, respectively). Conclusions Diabetes and CVD care quality was comparable between physicians and APPs with clinically insignificant differences. Regardless of provider type, there is a need to improve performance on eligible measures in diabetes or CVD patients.
We aimed to determine whether polymorphisms in chromosome 4q25 are associated with postoperative atrial fibrillation (AF), long-term AF, postoperative or long-term stroke, and long-term survival ...after coronary artery bypass grafting. We performed genotyping for rs2200733 and rs10033464 in white participants (n = 1,166) from the TexGen genetic registry. The development of postoperative or long-term AF, postoperative or long-term stroke, and long-term mortality were ascertained. Both rs2200733 and rs10033464 were associated with postoperative AF (odds ratio OR 1.41, 95% confidence interval CI 1.04 to 1.91, and OR 1.47, 95% CI 1.05 to 2.06, respectively). Carriers of the risk allele (T) had an increased risk of postoperative AF with preoperative β blocker (BB) (for rs2200733, OR 1.47, 95% CI 1.004 to 2.16 for those taking a BB, and OR 1.13, 95% CI 0.73 to 1.73 for those not taking a BB; for rs10033464, OR 1.89, 95% CI 1.22 to 2.93 for those taking preoperative a BB, and OR 1.04, 95% CI 0.65 to 1.65 for those not taking a BB). Both rs2200733 and rs10033464 were also associated with long-term AF (hazard ratio 1.32, 95% CI 1.05 to 1.67, and hazard ratio 1.28, 95% CI 1.00 to 1.66, respectively). Carriers of rs2200733 had increased long-term mortality (hazard ratio 1.57, 95% CI 1.10 to 2.24). These variants were not associated with postoperative or long-term stroke. In conclusion, variants in 4q25 are associated with an increased risk of postoperative or long-term AF and, possibly, mortality in whites undergoing coronary artery bypass grafting, and could potentially affect the choice of therapy used to decrease postoperative AF.
Background: Chromosome 9p21 single nucleotide polymorphisms (SNPs) have been shown to be associated with coronary heart disease in multiple studies. The aim of the present study was to identify ...whether these SNPs are associated with recurrent myocardial infarction (MI), revascularization, or death in acute coronary syndrome (ACS) patients or in those undergoing coronary artery bypass grafting (CABG). Methods and Results: TexGen registry participants with ACS (n=2,067) or CABG (n=1,176) were evaluated, to assess whether 9p21 SNPs (rs1333049, rs2383206, rs10757278, rs10757274) were associated with recurrent MI (primary outcome), recurrent revascularization, or death (secondary outcomes) at approximately 3.2 years of follow-up. Carriers of risk allele (C) for rs1333049 presented at an earlier age (62 vs. 63.5 years in non-carriers, P=0.0004) with more extensive disease (number of vessels with significant stenosis: 1.9 vs. 1.7 in non-carriers, P=0.001) in the ACS group. In adjusted models, the C allele was not associated with recurrent MI (hazard ratio HR, 1.01; 95% confidence interval CI: 0.74-1.38), recurrent revascularization (HR, 0.98; 95%CI: 0.78-1.23), or death (HR, 0.91; 95%CI: 0.69-1.18) in the ACS or CABG groups (recurrent MI: HR, 0.64; 95%CI: 0.40-1.05; recurrent revascularization: HR, 0.98; 95%CI: 0.61-1.55; death: HR, 0.89; 95%CI: 0.61-1.30). Results were similar for the other 3 SNPs. Conclusions: 9p21 SNPs were not associated with recurrent MI, revascularization, or mortality after ACS or CABG. Individuals with the rs1333049 C allele, however, may present with earlier and more extensive disease. (Circ J 2012; 76: 950-956)
Health care delivery systems increasingly ask patients to contribute biological samples for future genomic-based health research during critical care admissions, as the result of genome-based ...research requirements of unprecedented large sample sizes. Few reports describe patients' perceptions and responses to actual biobanking approaches in clinical settings. A qualitative study was conducted to explore 568 cardiac care patients' explanations of why they declined to contribute their samples to a future genomic research biobank.
To (1) identify themes emerging from explanations for declining contribution to the research biobanking initiative and (2) determine how the content informs the stewardship conceptual framework that addresses evidence-based clinical ethics practices in genomic and genetic research biobanking.
This qualitative study used an analytic method that combines inductive and deductive approaches to identify themes in patients' explanations for declining to contribute to a research biobank initiative. The hybrid design has relevance to health services research that seeks to develop taxonomy, themes, and theory.
Inductive approaches showed that themes of intrusion and autonomy dominated explanations. Deductive approaches affirmed previously proposed elements of a stewardship conceptual framework that addresses ethics in biobanking.
Research in understanding patients' perceptions can guide nursing and biobank practices in developing best practices.
In March of 2020, Columbia University School of Nursing (CUSON) Masters Direct Entry (MDE) program and New York Presbyterian Hospital (NYPH) created an innovative academic partnership to address the ...clinical needs of students and to help alleviate the burden of surging COVID-19 cases on nurses and the health care system. Through this partnership, students were hired as nurse technicians to assist with patient care during the first wave of the COVID-19 pandemic. As a result of this enhanced relationship, a pipeline of well-qualified graduate nurses with unique skills to adapt to a rapidly changing practice environment was created. Student participants in this opportunity developed an understanding of the organizational and leadership structures of the health care institution. The understanding of organizational and leadership structures will help transform the delivery of care.
Aim. The aim of this study was to assess understanding of genetics and attitudes towards genetic testing for clinical and research purposes in a group of older adults in the UK.
Background. ...Increasingly, genomics will have an impact on the diagnosis, prevention and treatment of common diseases and the prescription of drugs. The chance of being affected by a medical condition increases with age and therefore the use of genetic testing as part of general health‐care practice has an impact on the older population.
Methods. Older adults were recruited to two focus groups (n = 7 and n = 10 respectively). Focus group discussions were guided by a series of questions and were audiotaped. The transcribed data were coded for significant statements, which were organized under thematic headings.
Results. The mean age of participants was 76 years. The main themes to emerge were: understanding, approach to genetic testing and conditions for testing. In this cohort, the older adults were largely unsure about the underlying scientific basis of genetics but were keen to learn more. While enhanced medical knowledge could enable preventive measures to be taken and so reduce suffering, it was acknowledged that for some people knowing the future could potentially cause anxiety and harm. Participants were wary about research being used to benefit private companies and voiced ethical concerns about potential coercion to be tested and the misuse of science. However, all participants had an altruistic approach that influenced their willingness to be tested to benefit others in their family or the wider community. Conditions for testing included provision of information about the purpose of testing and feedback on the results.
Conclusions. Older adults are positive about the opportunities presented by genetic testing for clinical reasons and research, but need accurate information about the reasons for and implications of such testing.
Relevance to clinical practice. The results of this study confirm the need for nurses to be proactive in developing the genetic competencies required to detect potential familial disease, make appropriate referrals to genetic services and ensure informed consent is obtained for genetic testing.
The incidence of heart failure (HF) is increasing as the population ages. Pharmacotherapy is an important component of treatment and yields significant improvements in survival and quality of life. ...In recent decades, exercise has gradually become accepted as an intervention beneficial to patients with HF, but more information is needed to clarify the effects of exercise and optimize interventions. Therefore, a systematic review of randomized controlled trials published from 1966 to October 2006 was carried out via PubMed. About 69 trials were reviewed, which used as main outcome measures: (a) central hemodynamic parameters, (b) peripheral blood flow, (c) endothelial function, (d) activation of neurohormones and cytokine systems, (e) structure of and metabolism in skeletal muscles, and/or (f) quality of life. Study findings suggest that the favorable physiological responses to exercise might slow some of the pathophysiological progression of HF. However, most of the trials reviewed here were based on relatively small samples and selected participant groups, and the exercise programs varied widely. These limitations and inconsistencies need to be addressed through further studies. Furthermore, reliable strategies for maintaining the positive effects of exercise and extending them to patients' daily life and quality of life are scarce in these trials. These domains need further exploration through rationally designed, large-scale randomized controlled trials.
•Addressing and emotional health experienced by nurses during COVID-19 in a New York City institution.•Providing support to nurses through “Circles of Care” as a healing method.•Insight into the ...mental/emotional outcomes of being on the frontlines of a pandemic.
Nurses are the majority of the world's health work force and the frontline responders during pandemics. The mental/emotional toll can be profound if it is not identified and treated.
In March 2020, with New York City as the epicenter of the COVID-19 pandemic in the United States, Columbia University School of Nursing organized support circles for faculty and students providing clinical care as a healing method to address trauma.
Columbia University School of Nursing adapted guidelines and conducted Circles of Care to share, listen, and acknowledge the new challenges for nurses via Zoom. Analysis of these sessions produced major themes of concern for nurses.
Between March 31 and May 31, 2020, we facilitated 77 sessions with 636 attendees. Eight major themes emerged: coping mechanisms, patients suffering and dying, feelings of helplessness, frustration with COVID-19 response, silver lining, disconnection from the world, the thread that holds nurses together, and exhaustion.
This report offers insight into the mental/emotional outcomes of being on the frontlines. Addressing these issues is essential for the well-being of nurses and all health care providers for an effective pandemic response.
Genomics and Cardiovascular Disease Frazier, Lorraine; Johnson, Rolanda L.; Sparks, Elizabeth
Journal of Nursing Scholarship,
December 2005, Letnik:
37, Številka:
4
Journal Article, Book Review
Recenzirano
Purpose: To describe genetic knowledge and discovery in the area of cardiovascular disease (CVD) and to discuss how these new advances will influence the clinical care of affected people.
Organizing ...Framework: A selective review of the literature is presented on the disease mechanism of both the Mendelian and multifactorial genetic cardiovascular conditions. A case study approach is used to illustrate how the genetic paradigm affects the healthcare experience of a family affected with familial hypertrophic cardiomyopathy.
Findings: The current state of CVD treatment remains complex. An understanding of genomic concepts and a genome‐based approach is necessary to determine: (a) the risk of CVD susceptibility beyond traditional risk factors; (b) early detection of illness; (c) response to treatment; and (d) molecular taxonomy of the disease.
Conclusions: The results of genetic research, education, and teaching will lead to a new understanding of genes and pathways, resulting in powerful new therapeutic approaches to CVD. The challenge is to translate genetic discoveries into clinical practice that ultimately leads to preventing CVD and reducing mortality.
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