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1.
Reprod Health ; 20(1): 145, 2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37749632

RESUMO

PURPOSE: Despite the frequency of abortions, one-third of medical schools in the US and Canada did not include coverage of that topic, according to a survey conducted in 2002-2005. The purpose of this project was to develop, implement, and evaluate a module for second year medical students related to the ethics of abortion. METHODS: The module was designed as Independent Learning Time (ILT). The stated purpose was for students to consider some of the recent debate in the ethics literature related to conscientious objection and abortion and how personal views may influence future practice. The ILT included readings and Power Points to view. Students were asked to write a one-page reflection on one of three writing prompts. RESULTS: The most commonly selected writing prompt in three classes was on personal values in relation to abortion (56.5%), followed by information about nearest provider of reproductive services to rural preceptor site (34.7%), followed by conscientious objection (23.3%). We received many positive comments about the ILT, including: "First, I would like to acknowledge my gratitude for this assignment and its subject. I believe it is very important that future physicians learn the entirety of women's reproductive health care, including abortion and contraception, but unfortunately this is not always the case in medical training". CONCLUSIONS: There has been an extremely positive response to the ILT. With the exception of the prompt specific to our regional campus mission that includes rural preceptorships during the preclinical years, this module could be implementable at other medical schools.


Assuntos
Aborto Induzido , Médicos , Estudantes de Medicina , Gravidez , Humanos , Feminino , Aborto Induzido/educação , Anticoncepção , Inquéritos e Questionários
2.
BMC Health Serv Res ; 22(1): 1486, 2022 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-36474257

RESUMO

BACKGROUND: Systematically assessing disease risk can improve population health by identifying those eligible for enhanced prevention/screening strategies. This study aims to determine the clinical impact of a systematic risk assessment in diverse primary care populations. METHODS: Hybrid implementation-effectiveness trial of a family health history-based health risk assessment (HRA) tied to risk-based guideline recommendations enrolling from 2014-2017 with 12 months of post-intervention survey data and 24 months of electronic medical record (EMR) data capture. SETTING: 19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems. PARTICIPANTS: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic. METHODS: A personal and family health history based HRA with integrated guideline-based clinical decision support (CDS) was completed by each participant prior to their appointment. Risk reports were provided to patients and providers to discuss at their clinical encounter. OUTCOMES: provider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations. MEASURES: patient and provider surveys and EMR data. RESULTS: One thousand eight hundred twenty nine participants (mean age 56.2 [SD13.9], 69.6% female) completed the HRA and had EMR data available for analysis. 762 (41.6%) received a recommendation (29.7% for genetic counseling (GC); 15.2% for enhanced breast/colon cancer screening). Those with recommendations frequently discussed disease risk with their provider (8.7%-38.2% varied by recommendation, p-values ≤ 0.004). In the GC subgroup, provider discussions increased referrals to counseling (44.4% with vs. 5.9% without, P < 0.001). Recommendation uptake was highest for colon cancer screening (provider = 67.9%; patient = 86.8%) and lowest for breast cancer chemoprevention (0%). CONCLUSIONS: Systematic health risk assessment revealed that almost half the population were at increased disease risk based on guidelines. Risk identification resulted in shared discussions between participants and providers but variable clinical action uptake depending upon the recommendation. Understanding the barriers and facilitators to uptake by both patients and providers will be essential for optimizing HRA tools and achieving their promise of improving population health. TRIAL REGISTRATION: Clinicaltrials.gov number NCT01956773 , registered 10/8/2013.


Assuntos
Atenção à Saúde , Aconselhamento Genético , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Anamnese , Medição de Risco
3.
Brain Inj ; 36(1): 87-93, 2022 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-35138203

RESUMO

OBJECTIVE: To describe the epidemiology of traumatic brain injury (TBI) and quantify rural and urban differences. METHODS: Patient characteristics, injury characteristics, imaging, and outcomes were extracted from the trauma registry of the level II trauma center at Essentia Health-St. Mary's Medical Center, Duluth, MN, for patients admitted for a TBI from January 1, 2004, through December 31, 2016. Estimated relative risk (RR) per year, Wald 95% confidence intervals, and p-values were calculated. RESULTS: Of the 5,079 TBI admissions during the study period, just under half (2,510, 49.4%) resided in rural areas at the time of admission. Overall, there was a 3.8% unadjusted annual increase in TBI risk rom 2004-2016, with 2.9% and 4.7% annual increases among rural and urban U.S. residents, respectively. Rural residents had significant annual increases in risk of TBI admission resulting in 30-day post-discharge emergency department readmission and 30-day post-discharge combined inpatient/emergency department readmission of 35.2% and 22.4%, respectively. CONCLUSIONS: We found that risk of rural resident TBI admission due to MVC was significantly greater than that for urban residents. Public health and medical interventions to decrease the rural/urban disparity are warranted, including public health campaigns to increase seat belt use, and supportive care post-discharge into rural communities.


Assuntos
Lesões Encefálicas Traumáticas , Centros de Traumatologia , Assistência ao Convalescente , Lesões Encefálicas Traumáticas/epidemiologia , Humanos , Alta do Paciente , População Rural
4.
Crit Care Nurs Q ; 45(1): 83-87, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34818301

RESUMO

The purpose of this project was to develop and evaluate a collaborative nursing/therapist protocol for early mobility in a medical-surgical intensive care unit (MICU) in a regional level II trauma center. Data for patients in the MICU were compared for the periods August 3, 2015-August 2, 2016, and August 3, 2014-August 2, 2015. Semistructured interviews were conducted with 10 nurses and 1 therapist. Average MICU length of stay decreased from 3.81 to 3.50 days (P = .057). Mean time in mobility chairs did not change (0.12 days vs 0.11 days, P = .389). Mean number of days to first documented level 2-5 activity decreased significantly, from 1.81 to 1.51 days (P = .036). The percentage of hospitalizations with any documented level 3 or 4 activity increased significantly (from 3.8% to 7.4% and from 61.5% to 66.7%, P = .003 and P = .031, respectively). Barriers/challenges to implementation included having enough people to assist, space, documentation, having to coax the physician to place order for upright mobility, availability of therapists for later stages of protocol, patient variability, fear of patient falls, availability of therapy chairs, staff changes, time, and patient refusal. A multidisciplinary approach to protocol development for early mobility in an intensive care unit was successfully implemented at a regional level II trauma center.


Assuntos
Unidades de Terapia Intensiva , Centros de Traumatologia , Humanos , Tempo de Internação , Avaliação em Enfermagem
5.
Nurs Crit Care ; 27(3): 334-340, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-33345370

RESUMO

OBJECTIVE: The purpose of this quality improvement initiative was to evaluate satisfaction of family members of patients in a neuro trauma ICU (NTICU). METHODS: Adult patients (age 18+) admitted to the NTICU for at least 24 hours between June 2017 and November 2018 were identified. Near or at the time of discharge from the NTICU, the health unit coordinator or registered nurse identified the family member who was either the next-of-kin, surrogate decision-maker, or person who had been most frequently present at the patient's bedside. This person was provided a packet containing a letter of consent and the Critical Care Family Satisfaction Survey (CCFSS). RESULTS: Surveys were completed by 78 family members, the majority of whom were the wife of the patient (n = 35, 44%), 60 years and older (n = 48, 60.8%). Fifty-seven percent of patients (n = 45) were in the ICU less than 3 days and 59% (n = 47) of medical events were injury-related. Total CCFSS scores ranged from 69 to 100 (median 95). The item with the largest number of dissatisfied responses was "Noise level in the critical care unit" (n = 4, 5.3% not satisfied). Open-ended question comments were primarily positive (n = 60, 66%), with 32% (n = 29) representing areas for improvement. CONCLUSIONS: Results of this satisfaction survey have been disseminated to leadership and have been taken into consideration in the planning of a new hospital building currently being built, including ICU patient rooms that allow for more privacy and reduced noise, and more comfortable family rooms. RELEVANCE TO CLINICAL PRACTICE: Family members are a very useful source of feedback for ICU care. Several concerns identified by family members in this study are likely to be relevant to other sites. These included: communication between health care providers and family about patient status, noise in the ICU, peaceful waiting areas for family, and slow transfers.


Assuntos
Unidades de Terapia Intensiva , Satisfação Pessoal , Adolescente , Adulto , Comunicação , Cuidados Críticos , Família , Humanos
6.
Am J Hum Genet ; 100(3): 414-427, 2017 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-28190457

RESUMO

Individuals participating in biobanks and other large research projects are increasingly asked to provide broad consent for open-ended research use and widespread sharing of their biosamples and data. We assessed willingness to participate in a biobank using different consent and data sharing models, hypothesizing that willingness would be higher under more restrictive scenarios. Perceived benefits, concerns, and information needs were also assessed. In this experimental survey, individuals from 11 US healthcare systems in the Electronic Medical Records and Genomics (eMERGE) Network were randomly allocated to one of three hypothetical scenarios: tiered consent and controlled data sharing; broad consent and controlled data sharing; or broad consent and open data sharing. Of 82,328 eligible individuals, exactly 13,000 (15.8%) completed the survey. Overall, 66% (95% CI: 63%-69%) of population-weighted respondents stated they would be willing to participate in a biobank; willingness and attitudes did not differ between respondents in the three scenarios. Willingness to participate was associated with self-identified white race, higher educational attainment, lower religiosity, perceiving more research benefits, fewer concerns, and fewer information needs. Most (86%, CI: 84%-87%) participants would want to know what would happen if a researcher misused their health information; fewer (51%, CI: 47%-55%) would worry about their privacy. The concern that the use of broad consent and open data sharing could adversely affect participant recruitment is not supported by these findings. Addressing potential participants' concerns and information needs and building trust and relationships with communities may increase acceptance of broad consent and wide data sharing in biobank research.


Assuntos
Bancos de Espécimes Biológicos/ética , Disseminação de Informação/ética , Consentimento Livre e Esclarecido/ética , Opinião Pública , Adolescente , Adulto , Idoso , Pesquisa Biomédica/ética , Registros Eletrônicos de Saúde/ética , Feminino , Genoma Humano , Genômica , Humanos , Masculino , Pessoa de Meia-Idade , Privacidade , Fatores Socioeconômicos , Estados Unidos , Adulto Jovem
7.
BMC Health Serv Res ; 20(1): 1015, 2020 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-33160339

RESUMO

BACKGROUND: Risk assessment is a precision medicine technique that can be used to enhance population health when applied to prevention. Several barriers limit the uptake of risk assessment in health care systems; and little is known about the potential impact that adoption of systematic risk assessment for screening and prevention in the primary care population might have. Here we present results of a first of its kind multi-institutional study of a precision medicine tool for systematic risk assessment. METHODS: We undertook an implementation-effectiveness trial of systematic risk assessment of primary care patients in 19 primary care clinics at four geographically and culturally diverse healthcare systems. All adult English or Spanish speaking patients were invited to enter personal and family health history data into MeTree, a patient-facing family health history driven risk assessment program, for 27 medical conditions. Risk assessment recommendations followed evidence-based guidelines for identifying and managing those at increased disease risk. RESULTS: One thousand eight hundred eighty-nine participants completed MeTree, entering information on N = 25,967 individuals. Mean relatives entered = 13.7 (SD 7.9), range 7-74. N = 1443 (76.4%) participants received increased risk recommendations: 597 (31.6%) for monogenic hereditary conditions, 508 (26.9%) for familial-level risk, and 1056 (56.1%) for risk of a common chronic disease. There were 6617 recommendations given across the 1443 participants. In multivariate analysis, only the total number of relatives entered was significantly associated with receiving a recommendation. CONCLUSIONS: A significant percentage of the general primary care population meet criteria for more intensive risk management. In particular 46% for monogenic hereditary and familial level disease risk. Adopting strategies to facilitate systematic risk assessment in primary care could have a significant impact on populations within the U.S. and even beyond. TRIAL REGISTRATION: Clinicaltrials.gov number NCT01956773 , registered 10/8/2013.


Assuntos
Saúde da População , Medicina de Precisão , Atenção Primária à Saúde , Medição de Risco/métodos , Adulto , Idoso , Instituições de Assistência Ambulatorial , Doença Crônica , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Anamnese , Pessoa de Meia-Idade , Avaliação de Programas e Projetos de Saúde , Gestão de Riscos , Estados Unidos
8.
Circulation ; 138(22): 2469-2481, 2018 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-30571344

RESUMO

BACKGROUND: Proteomic approaches allow measurement of thousands of proteins in a single specimen, which can accelerate biomarker discovery. However, applying these technologies to massive biobanks is not currently feasible because of the practical barriers and costs of implementing such assays at scale. To overcome these challenges, we used a "virtual proteomic" approach, linking genetically predicted protein levels to clinical diagnoses in >40 000 individuals. METHODS: We used genome-wide association data from the Framingham Heart Study (n=759) to construct genetic predictors for 1129 plasma protein levels. We validated the genetic predictors for 268 proteins and used them to compute predicted protein levels in 41 288 genotyped individuals in the Electronic Medical Records and Genomics (eMERGE) cohort. We tested associations for each predicted protein with 1128 clinical phenotypes. Lead associations were validated with directly measured protein levels and either low-density lipoprotein cholesterol or subclinical atherosclerosis in the MDCS (Malmö Diet and Cancer Study; n=651). RESULTS: In the virtual proteomic analysis in eMERGE, 55 proteins were associated with 89 distinct diagnoses at a false discovery rate q<0.1. Among these, 13 associations involved lipid (n=7) or atherosclerosis (n=6) phenotypes. We tested each association for validation in MDCS using directly measured protein levels. At Bonferroni-adjusted significance thresholds, levels of apolipoprotein E isoforms were associated with hyperlipidemia, and circulating C-type lectin domain family 1 member B and platelet-derived growth factor receptor-ß predicted subclinical atherosclerosis. Odds ratios for carotid atherosclerosis were 1.31 (95% CI, 1.08-1.58; P=0.006) per 1-SD increment in C-type lectin domain family 1 member B and 0.79 (0.66-0.94; P=0.008) per 1-SD increment in platelet-derived growth factor receptor-ß. CONCLUSIONS: We demonstrate a biomarker discovery paradigm to identify candidate biomarkers of cardiovascular and other diseases.


Assuntos
Biomarcadores/sangue , Doenças das Artérias Carótidas/diagnóstico , Estudo de Associação Genômica Ampla , Proteoma/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças das Artérias Carótidas/genética , Feminino , Genótipo , Humanos , Lectinas Tipo C/análise , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Polimorfismo de Nucleotídeo Único , Proteômica , Receptor beta de Fator de Crescimento Derivado de Plaquetas/sangue
9.
Genet Med ; 21(2): 331-338, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29875427

RESUMO

PURPOSE: This paper describes the implementation outcomes associated with integrating a family health history-based risk assessment and clinical decision support platform within primary care clinics at four diverse healthcare systems. METHODS: A type III hybrid implementation-effectiveness trial. Uptake and implementation processes were evaluated using the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework. RESULTS: One hundred (58%) primary care providers and 2514 (7.8%) adult patients enrolled. Enrolled patients were 69% female, 22% minority, and 32% Medicare/Medicaid. Compared with their respective clinic's population, patient-participants were more likely to be female (69 vs. 59%), older (mean age 57 vs. 49), and Caucasian (88 vs. 69%) (all p values <0.001). Female (81.3% of females vs. 78.5% of males, p value = 0.018) and Caucasian (Caucasians 90.4% vs. minority 84.1%, p value = 0.02) patient-participants were more likely to complete the study once enrolled. Patient-participant survey responses indicated MeTree was easy to use (95%), and patient-participants would recommend it to family/friends (91%). Minorities and those with less education reported greatest benefit. Enrolled providers reflected demographics of underlying provider population. CONCLUSION: Family health history-based risk assessment can be effectively implemented in diverse primary care settings and can effectively engage patients and providers. Future research should focus on finding better ways to engage young adults, males, and minorities in preventive healthcare.


Assuntos
Sistemas de Apoio a Decisões Clínicas , Anamnese , Medição de Risco , Software , Adulto , Feminino , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Atenção Primária à Saúde/métodos
10.
Circ Res ; 120(2): 341-353, 2017 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-27899403

RESUMO

RATIONALE: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. OBJECTIVE: To identify additional AAA risk loci using data from all available genome-wide association studies. METHODS AND RESULTS: Through a meta-analysis of 6 genome-wide association study data sets and a validation study totaling 10 204 cases and 107 766 controls, we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches, we observed no new associations between the lead AAA single nucleotide polymorphisms and coronary artery disease, blood pressure, lipids, or diabetes mellitus. Network analyses identified ERG, IL6R, and LDLR as modifiers of MMP9, with a direct interaction between ERG and MMP9. CONCLUSIONS: The 4 new risk loci for AAA seem to be specific for AAA compared with other cardiovascular diseases and related traits suggesting that traditional cardiovascular risk factor management may only have limited value in preventing the progression of aneurysmal disease.


Assuntos
Aneurisma da Aorta Abdominal/diagnóstico , Aneurisma da Aorta Abdominal/genética , Loci Gênicos/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Aneurisma da Aorta Abdominal/epidemiologia , Predisposição Genética para Doença/epidemiologia , Variação Genética/genética , Estudo de Associação Genômica Ampla/tendências , Humanos
11.
PLoS Genet ; 12(9): e1006186, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27623284

RESUMO

Primary open angle glaucoma (POAG) is a complex disease and is one of the major leading causes of blindness worldwide. Genome-wide association studies have successfully identified several common variants associated with glaucoma; however, most of these variants only explain a small proportion of the genetic risk. Apart from the standard approach to identify main effects of variants across the genome, it is believed that gene-gene interactions can help elucidate part of the missing heritability by allowing for the test of interactions between genetic variants to mimic the complex nature of biology. To explain the etiology of glaucoma, we first performed a genome-wide association study (GWAS) on glaucoma case-control samples obtained from electronic medical records (EMR) to establish the utility of EMR data in detecting non-spurious and relevant associations; this analysis was aimed at confirming already known associations with glaucoma and validating the EMR derived glaucoma phenotype. Our findings from GWAS suggest consistent evidence of several known associations in POAG. We then performed an interaction analysis for variants found to be marginally associated with glaucoma (SNPs with main effect p-value <0.01) and observed interesting findings in the electronic MEdical Records and GEnomics Network (eMERGE) network dataset. Genes from the top epistatic interactions from eMERGE data (Likelihood Ratio Test i.e. LRT p-value <1e-05) were then tested for replication in the NEIGHBOR consortium dataset. To replicate our findings, we performed a gene-based SNP-SNP interaction analysis in NEIGHBOR and observed significant gene-gene interactions (p-value <0.001) among the top 17 gene-gene models identified in the discovery phase. Variants from gene-gene interaction analysis that we found to be associated with POAG explain 3.5% of additional genetic variance in eMERGE dataset above what is explained by the SNPs in genes that are replicated from previous GWAS studies (which was only 2.1% variance explained in eMERGE dataset); in the NEIGHBOR dataset, adding replicated SNPs from gene-gene interaction analysis explain 3.4% of total variance whereas GWAS SNPs alone explain only 2.8% of variance. Exploring gene-gene interactions may provide additional insights into many complex traits when explored in properly designed and powered association studies.


Assuntos
Epistasia Genética , Glaucoma de Ângulo Aberto/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Fenótipo
12.
J Christ Nurs ; 36(3): 180-184, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30585882

RESUMO

Healthcare ethics committees can be valuable resources but are largely underutilized by nurses. The purpose of this project was to review ethics concerns and educational needs of nurses in a large, integrated healthcare delivery system. Seven themes were identified: organizational issues, nonbeneficial care, withdrawing life-sustaining therapies, discharge disposition, challenging patients and families, communication with physicians, and capacity versus competence. A process was then developed to better engage nurses in ethical discussions.


Assuntos
Comissão de Ética/organização & administração , Padrões de Prática em Enfermagem , Humanos , Minnesota , Enfermagem Paroquial
13.
Am J Hum Genet ; 97(4): 512-20, 2015 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-26365338

RESUMO

Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of HFE variants in individuals undergoing genome-scale sequencing should be informed by penetrance estimates of HH in unselected samples. We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr]. The diagnostic rate of HH in males was 24.4% for p.Cys282Tyr homozygotes and 3.5% for compound heterozygotes (p < 0.001); in females, it was 14.0% for p.Cys282Tyr homozygotes and 2.3% for compound heterozygotes (p < 0.001). Only males showed differences across genotypes in transferrin saturation levels (100% of homozygotes versus 37.5% of compound heterozygotes with transferrin saturation > 50%; p = 0.003), serum ferritin levels (77.8% versus 33.3% with serum ferritin > 300 ng/ml; p = 0.006), and diabetes (44.7% versus 28.0%; p = 0.03). No differences were found in the prevalence of heart disease, arthritis, or liver disease, except for the rate of liver biopsy (10.9% versus 1.8% [p = 0.013] in males; 9.1% versus 2% [p = 0.035] in females). Given the higher rate of HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-risk genotypes, in addition to other suggested actionable adult-onset genetic conditions, opportunistic screening should be considered for p.[Cys282Tyr];[Cys282Tyr] individuals with existing genomic data.


Assuntos
Variação Genética/genética , Hemocromatose/epidemiologia , Hemocromatose/genética , Antígenos de Histocompatibilidade Classe I/genética , Proteínas de Membrana/genética , Adulto , Idoso , Substituição de Aminoácidos , Criança , Estudos de Coortes , Feminino , Seguimentos , Genótipo , Hemocromatose/diagnóstico , Proteína da Hemocromatose , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Penetrância , Prognóstico , Estados Unidos/epidemiologia
14.
Am J Respir Crit Care Med ; 195(4): 456-463, 2017 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-27611488

RESUMO

RATIONALE: Despite significant advances in knowledge of the genetic architecture of asthma, specific contributors to the variability in the burden between populations remain uncovered. OBJECTIVES: To identify additional genetic susceptibility factors of asthma in European American and African American populations. METHODS: A phenotyping algorithm mining electronic medical records was developed and validated to recruit cases with asthma and control subjects from the Electronic Medical Records and Genomics network. Genome-wide association analyses were performed in pediatric and adult asthma cases and control subjects with European American and African American ancestry followed by metaanalysis. Nominally significant results were reanalyzed conditioning on allergy status. MEASUREMENTS AND MAIN RESULTS: The validation of the algorithm yielded an average of 95.8% positive predictive values for both cases and control subjects. The algorithm accrued 21,644 subjects (65.83% European American and 34.17% African American). We identified four novel population-specific associations with asthma after metaanalyses: loci 6p21.31, 9p21.2, and 10q21.3 in the European American population, and the PTGES gene in African Americans. TEK at 9p21.2, which encodes TIE2, has been shown to be involved in remodeling the airway wall in asthma, and the association remained significant after conditioning by allergy. PTGES, which encodes the prostaglandin E synthase, has also been linked to asthma, where deficient prostaglandin E2 synthesis has been associated with airway remodeling. CONCLUSIONS: This study adds to understanding of the genetic architecture of asthma in European Americans and African Americans and reinforces the need to study populations of diverse ethnic backgrounds to identify shared and unique genetic predictors of asthma.


Assuntos
Asma/genética , Negro ou Afro-Americano/genética , Registros Eletrônicos de Saúde/estatística & dados numéricos , Predisposição Genética para Doença/genética , Prostaglandina-E Sintases/genética , População Branca/genética , Adolescente , Adulto , Remodelação das Vias Aéreas/genética , Remodelação das Vias Aéreas/imunologia , Algoritmos , Asma/etnologia , Criança , Pré-Escolar , Mineração de Dados/métodos , Feminino , Predisposição Genética para Doença/etnologia , Estudo de Associação Genômica Ampla , Humanos , Masculino , Metanálise como Assunto , Fenótipo , Prevalência , Estados Unidos
15.
Optom Vis Sci ; 95(3): 166-170, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29424826

RESUMO

SIGNIFICANCE: The American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases such as age-related macular degeneration (AMD). The results of this study demonstrate that patients are very interested in predictive genetic testing for AMD, find the information useful, and make behavioral changes as a result of the information. PURPOSE: The goal of this project was to conduct a pilot AMD genomic medicine study. METHODS: Eligible patients were aged 50 to 65 years with no personal history of AMD. DNA samples were genotyped for five single-nucleotide polymorphisms (SNPs) in the CFH gene, one SNP in the ARMS-2 gene, one SNP in the C3 gene, and one SNP in the mitochondrial ND2 gene. A risk score was calculated utilizing a model based on odds ratios, lifetime risk of advanced AMD and known population prevalence of genotype, haplotype, and smoking risk. The study optometrist provided the patient's risk score and counseling for personal protective behaviors. Telephone interviews were conducted 1 to 3 months after the counseling visit. RESULTS: One hundred one subjects (85%) participated in the genetic testing; 78 (77.2%) were female. Follow-up interviews were conducted with 94 participants (93.1%). More than half (n = 48) of the participants said that they were motivated to participate in the study because they had a family member with AMD or another eye or genetic disorder. Despite low risk levels, many participants reported making changes as a result of the genetic testing. Twenty-seven people reported making specific changes, including wearing sunglasses and brimmed hat and taking vitamin supplements. Another 16 people said that they were already doing the recommended activities, including wearing glasses, quitting smoking, and/or taking vitamins. CONCLUSIONS: Interest in genetic testing for future risk of AMD was high in this population and resulted in support to continue current health behaviors or incentive to improve behaviors related to eye health.


Assuntos
Testes Genéticos , Degeneração Macular/genética , Degeneração Macular/psicologia , Pacientes/psicologia , Polimorfismo de Nucleotídeo Único , Idoso , Complemento C3/genética , Fator H do Complemento/genética , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , NADH Desidrogenase/genética , Projetos Piloto , Proteínas/genética , Medição de Risco
17.
J Emerg Nurs ; 44(3): 280-284, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29108693

RESUMO

ABSTRACTPURPOSE: To identify and implement an evidence-based fall-risk assessment tool for use in emergency departments at Essentia Health, a large, primarily rural health care delivery system with 12 emergency departments. METHODS: The Iowa Model of Evidence-Based Practice to Promote Quality Care was used to guide the process. The Memorial Emergency Department Fall-Risk Assessment Tool (MEDFRAT) was programmed into the electronic medical record, along with interventions that could be selected for 2 fall-risk levels. An education session was developed for emergency nurses about falls and MEDFRAT, with planned time for discussion about any concerns in the implementation of MEDFRAT. MEDFRAT was selected for implementation by nursing leadership because it is evidence based and appeared to be conducive to implementation in the diverse emergency departments across 12 sites in 3 states. RESULTS: Education sessions were presented to nurses at 11 of 12 emergency departments. Suggestions to support site-specific implementation were programmed into the electronic health record. Nurses expressed appreciation that they were consulted, and their feedback was incorporated into the tool before it was implemented. Resources needed at each site to implement recommended MEDFRAT interventions in the tool were identified. Needed resources were then provided to the emergency departments before implementation of MEDFRAT. CONCLUSIONS: The Iowa Model was a useful framework to select an evidence-based tool and then engage nurses in the process of implementing evidence-based practice changes in emergency departments across a diverse health care system serving a largely rural population. Ongoing follow-up will determine if this process results in fewer falls.


Assuntos
Acidentes por Quedas/prevenção & controle , Serviço Hospitalar de Emergência , Hospitais Comunitários , Avaliação de Programas e Projetos de Saúde/métodos , Qualidade da Assistência à Saúde/estatística & dados numéricos , Acidentes por Quedas/estatística & dados numéricos , Hospitais Rurais , Humanos , North Dakota , Wisconsin
18.
Nat Rev Genet ; 12(1): 69-73, 2011 01.
Artigo em Inglês | MEDLINE | ID: mdl-21116304

RESUMO

Tools such as genome resequencing and genome-wide association studies have recently been used to uncover a number of variants that affect drug toxicity and efficacy, as well as potential drug targets. But how much closer are we to incorporating pharmacogenomics into routine clinical practice? Five experts discuss how far we have come, and highlight the technological, informatics, educational and practical obstacles that stand in the way of realizing genome-driven medicine.


Assuntos
Medicina Clínica/tendências , Farmacogenética , Medicina de Precisão , Estudo de Associação Genômica Ampla , Humanos
20.
J Trauma Nurs ; 24(2): 116-124, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28272186

RESUMO

The use of screening and brief interventions (SBI) has been proposed to reduce future alcohol misuse and injury in traumatic brain injury (TBI) patients. As a result a SBI protocol for TBI patients was introduced with nursing training at a community hospital. In the 2 years following the implementation of a SBI protocol and nursing training, the number of patients with positive alcohol results decreased. The number of brief interventions increased to 83 (40.1%, 95% confidence limit [CL] = 33.4, 46.8), and CAGE questionnaire screenings decreased to 88 (42.5%, 95% CL = 35.8, 49.2), with 31 (35.2%) having positive results. These results highlight the need to assess processes and training in the emergency department to ensure that SBIs occur.


Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Lesões Encefálicas Traumáticas/diagnóstico , Intervenção Médica Precoce/organização & administração , Programas de Rastreamento/métodos , Adulto , Fatores Etários , Concentração Alcoólica no Sangue , Lesões Encefálicas Traumáticas/epidemiologia , Lesões Encefálicas Traumáticas/terapia , Intervalos de Confiança , Bases de Dados Factuais , Feminino , Escala de Coma de Glasgow , Hospitais Comunitários , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores Sexuais , Resultado do Tratamento , Adulto Jovem
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