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1.
J Gen Intern Med ; 37(8): 1845-1852, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-34997391

RESUMEN

BACKGROUND: Small-sized primary care practices, defined as practices with fewer than 10 clinicians, delivered the majority of outpatient visits in the USA. Statin therapy in high-risk individuals reduces atherosclerotic cardiovascular disease (ASCVD) events, but prescribing patterns in small primary care practices are not well known. This study describes statin treatment patterns in small-sized primary care practices and examines patient- and practice-level factors associated with lack of statin treatment. METHODS: We conducted a retrospective cohort analysis of statin-eligible patients from practices that participated in Healthy Hearts in the Heartland (H3), a quality improvement initiative aimed at improving cardiovascular care measures in small primary care practices. All statin-eligible adults who received care in one of 53 H3 practices from 2013 to 2016. Statin-eligible adults include those aged at least 21 with (1) clinical ASCVD, (2) low-density lipoprotein cholesterol (LDL-C) ≥ 190 mg/dL, or (3) diabetes aged 40-75 and with LDL-C 70-189 mg/dL. Eligible patients with no record of moderate- to high-intensity statin prescription are defined by ACC/AHA guidelines. RESULTS: Among the 13,330 statin-eligible adults, the mean age was 58 years and 52% were women. Overall, there was no record of moderate- to high-intensity statin prescription among 5,780 (43%) patients. Younger age, female sex, and lower LDL-C were independently associated with a lack of appropriate intensity statin therapy. Higher proportions of patients insured by Medicaid and having only family medicine trained physicians (versus having at least one internal medicine trained physician) at the practice were also associated with lower appropriate intensity statin use. Lack of appropriate intensity statin therapy was higher in independent practices than in Federally Qualified Health Centers (FQHCs) (50% vs. 40%, p value < 0.01). CONCLUSIONS: There is an opportunity for improved ASCVD risk reduction in small primary care practices. Statin treatment patterns and factors influencing lack of treatment vary by practice setting, highlighting the importance of tailored approaches to each setting.


Asunto(s)
Aterosclerosis , Enfermedades Cardiovasculares , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Adulto , Enfermedades Cardiovasculares/tratamiento farmacológico , LDL-Colesterol , Estudios de Cohortes , Femenino , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Masculino , Persona de Mediana Edad , Atención Primaria de Salud , Estudios Retrospectivos , Estados Unidos/epidemiología
2.
Med Care ; 58(4): 344-351, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31876643

RESUMEN

BACKGROUND: Effective quality improvement (QI) strategies are needed for small practices. OBJECTIVE: The objective of this study was to compare practice facilitation implementing point-of-care (POC) QI strategies alone versus facilitation implementing point-of-care plus population management (POC+PM) strategies on preventive cardiovascular care. DESIGN: Two arm, practice-randomized, comparative effectiveness study. PARTICIPANTS: Small and mid-sized primary care practices. INTERVENTIONS: Practices worked with facilitators on QI for 12 months to implement POC or POC+PM strategies. MEASURES: Proportion of eligible patients in a practice meeting "ABCS" measures: (Aspirin) Aspirin/antiplatelet therapy for ischemic vascular disease, (Blood pressure) Controlling High Blood Pressure, (Cholesterol) Statin Therapy for the Prevention and Treatment of Cardiovascular Disease, and (Smoking) Tobacco Use: Screening and Cessation Intervention, and the Change Process Capability Questionnaire. Measurements were performed at baseline, 12, and 18 months. RESULTS: A total of 226 practices were randomized, 179 contributed follow-up data. The mean proportion of patients meeting each performance measure was greater at 12 months compared with baseline: Aspirin 0.04 (95% confidence interval: 0.02-0.06), Blood pressure 0.04 (0.02-0.06), Cholesterol 0.05 (0.03-0.07), Smoking 0.05 (0.02-0.07); P<0.001 for each. Improvements were sustained at 18 months. At 12 months, baseline-adjusted difference-in-differences in proportions for the POC+PM arm versus POC was: Aspirin 0.02 (-0.02 to 0.05), Blood pressure -0.01 (-0.04 to 0.03), Cholesterol 0.03 (0.00-0.07), and Smoking 0.02 (-0.02 to 0.06); P>0.05 for all. Change Process Capability Questionnaire improved slightly, mean change 0.30 (0.09-0.51) but did not significantly differ across arms. CONCLUSION: Facilitator-led QI promoting population management approaches plus POC improvement strategies was not clearly superior to POC strategies alone.


Asunto(s)
Enfermedades Cardiovasculares/prevención & control , Investigación sobre la Eficacia Comparativa , Administración de la Práctica Médica/organización & administración , Atención Primaria de Salud/organización & administración , Mejoramiento de la Calidad , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Estados Unidos
3.
Heart Fail Clin ; 16(4): 467-477, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32888641

RESUMEN

Heart failure management requires intensive care coordination. Guideline-directed medical therapies have been shown to save lives but are practically challenging to implement because of the fragmented care that heart failure patients experience. Electronic health record adoption has transformed the collection and storage of clinical data, but accessing these data often remains prohibitively difficult. Current legislation aims to increase the interoperability of software systems so that providers and patients can easily access the clinical information they desire. Novel heart failure devices and technologies leverage patient-generated data to manage heart failure patients, whereas new data standards make it possible for this information to guide clinical decision-making.


Asunto(s)
Registros Electrónicos de Salud/normas , Insuficiencia Cardíaca/terapia , Humanos , Programas Informáticos
4.
Circulation ; 136(13): 1207-1216, 2017 Sep 26.
Artículo en Inglés | MEDLINE | ID: mdl-28687707

RESUMEN

BACKGROUND: Understanding the validity of data from electronic data research networks is critical to national research initiatives and learning healthcare systems for cardiovascular care. Our goal was to evaluate the degree of agreement of electronic data research networks in comparison with data collected by standardized research approaches in a cohort study. METHODS: We linked individual-level data from MESA (Multi-Ethnic Study of Atherosclerosis), a community-based cohort, with HealthLNK, a 2006 to 2012 database of electronic health records from 6 Chicago health systems. To evaluate the correlation and agreement of blood pressure in HealthLNK in comparison with in-person MESA examinations, and body mass index in HealthLNK in comparison with MESA, we used Pearson correlation coefficients and Bland-Altman plots. Using diagnoses in MESA as the criterion standard, we calculated the performance of HealthLNK for hypertension, obesity, and diabetes mellitus diagnosis by using International Classification of Diseases, Ninth Revision codes and clinical data. We also identified potential myocardial infarctions, strokes, and heart failure events in HealthLNK and compared them with adjudicated events in MESA. RESULTS: Of the 1164 MESA participants enrolled at the Chicago Field Center, 802 (68.9%) participants had data in HealthLNK. The correlation was low for systolic blood pressure (0.39; P<0.0001). In comparison with MESA, HealthLNK overestimated systolic blood pressure by 6.5 mm Hg (95% confidence interval, 4.2-7.8). There was a high correlation between body mass index in MESA and HealthLNK (0.94; P<0.0001). HealthLNK underestimated body mass index by 0.3 kg/m2 (95% confidence interval, -0.4 to -0.1). With the use of International Classification of Diseases, Ninth Revision codes and clinical data, the sensitivity and specificity of HealthLNK queries for hypertension were 82.4% and 59.4%, for obesity were 73.0% and 89.8%, and for diabetes mellitus were 79.8% and 93.3%. In comparison with adjudicated cardiovascular events in MESA, the concordance rates for myocardial infarction, stroke, and heart failure were, respectively, 41.7% (5/12), 61.5% (8/13), and 62.5% (10/16). CONCLUSIONS: These findings illustrate the limitations and strengths of electronic data repositories in comparison with information collected by traditional standardized epidemiological approaches for the ascertainment of cardiovascular risk factors and events.


Asunto(s)
Aterosclerosis/etnología , Bases de Datos Factuales , Anciano , Anciano de 80 o más Años , Aterosclerosis/diagnóstico , Presión Sanguínea , Índice de Masa Corporal , Estudios de Cohortes , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiología , Diabetes Mellitus/etnología , Femenino , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/epidemiología , Insuficiencia Cardíaca/etnología , Humanos , Hipertensión/diagnóstico , Hipertensión/epidemiología , Hipertensión/etnología , Masculino , Persona de Mediana Edad , Infarto del Miocardio/diagnóstico , Infarto del Miocardio/epidemiología , Infarto del Miocardio/etnología , Factores de Riesgo , Sensibilidad y Especificidad , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etnología
5.
J Gen Intern Med ; 33(11): 1968-1977, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30066117

RESUMEN

BACKGROUND: More than 100 million individuals in the USA have been diagnosed with a chronic disease, yet chronic disease care has remained fragmented and of inconsistent quality. Improving chronic disease management has been challenging for primary care and internal medicine practitioners. Practice facilitation provides a comprehensive approach to chronic disease care. The objective is to evaluate the impact of practice facilitation on chronic disease outcomes in the primary care setting. METHODS: This systematic review examined North American studies from PubMed, EMBASE, and Web of Science (database inception to August 2017). Investigators independently extracted and assessed the quality of the data on chronic disease process and clinical outcome measures. Studies implemented practice facilitation and reported quantifiable care processes and patient outcomes for chronic disease. Each study and their evidence were assessed for risk of bias and quality according to the Cochrane Collaboration and the Grade Collaboration tool. RESULTS: This systematic review included 25 studies: 12 randomized control trials and 13 prospective cohort studies. Across all studies, practices and their clinicians were aware of the implementation of practice facilitation. Improvements were observed in most studies for chronic diseases including asthma, cancer (breast, cervical, and colorectal), cardiovascular disease (cerebrovascular disease, coronary artery disease, dyslipidemia, hypertension, myocardial infarction, and peripheral vascular disease), and type 2 diabetes. Mixed results were observed for chronic kidney disease and chronic illness care. DISCUSSION: Overall, the results suggest that practice facilitation may improve chronic disease care measures. Across all studies, practices were aware of practice facilitation. These findings lend support for the potential expansion of practice facilitation in primary care. Future work will need to investigate potential opportunities for practice facilitation to improve chronic disease outcomes in other health care settings (e.g., specialty and multi-specialty practices) with standardized measures.


Asunto(s)
Enfermedad Crónica/terapia , Evaluación de Resultado en la Atención de Salud/métodos , Atención Primaria de Salud/métodos , Enfermedad Crónica/tendencias , Humanos , Evaluación de Resultado en la Atención de Salud/tendencias , Atención Primaria de Salud/tendencias , Estudios Prospectivos , Ensayos Clínicos Controlados Aleatorios como Asunto/métodos
6.
Ann Fam Med ; 16(Suppl 1): S72-S79, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29632229

RESUMEN

PURPOSE: The methods and costs to enroll small primary care practices in large, regional quality improvement initiatives are unknown. We describe the recruitment approach, cost, and resources required to recruit and enroll 500 practices in the Northwest and Midwest regional cooperatives participating in the Agency for Healthcare Research and Quality (AHRQ)-funded initiative, EvidenceNOW: Advancing Heart Health in Primary Care. METHODS: The project management team of each cooperative tracked data on recruitment methods used for identifying and connecting with practices. We developed a cost-of-recruitment template and used it to record personnel time and associated costs of travel and communication materials. RESULTS: A total of 3,669 practices were contacted during the 14- to 18-month recruitment period, resulting in 484 enrolled practices across the 6 states served by the 2 cooperatives. The average number of interactions per enrolled practice was 7, with a total of 29,100 hours and a total cost of $2.675 million, or $5,529 per enrolled practice. Prior partnerships predicted recruiting almost 1 in 3 of these practices as contrasted to 1 in 20 practices without a previous relationship or warm hand-off. CONCLUSIONS: Recruitment of practices for large-scale practice quality improvement transformation initiatives is difficult and costly. The cost of recruiting practices without existing partnerships is expensive, costing 7 times more than reaching out to familiar practices. Investigators initiating and studying practice quality improvement initiatives should budget adequate funds to support high-touch recruitment strategies, including building trusted relationships over a long time frame, for a year or more.


Asunto(s)
Atención Primaria de Salud/organización & administración , Mejoramiento de la Calidad/economía , United States Agency for Healthcare Research and Quality/economía , Costos y Análisis de Costo , Investigación sobre Servicios de Salud/economía , Investigación sobre Servicios de Salud/métodos , Humanos , Atención Primaria de Salud/economía , Atención Primaria de Salud/estadística & datos numéricos , Estados Unidos
7.
J Biomed Inform ; 77: 1-10, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29174994

RESUMEN

OBJECTIVE: The traditional fee-for-service approach to healthcare can lead to the management of a patient's conditions in a siloed manner, inducing various negative consequences. It has been recognized that a bundled approach to healthcare - one that manages a collection of health conditions together - may enable greater efficacy and cost savings. However, it is not always evident which sets of conditions should be managed in a bundled manner. In this study, we investigate if a data-driven approach can automatically learn potential bundles. METHODS: We designed a framework to infer health condition collections (HCCs) based on the similarity of their clinical workflows, according to electronic medical record (EMR) utilization. We evaluated the framework with data from over 16,500 inpatient stays from Northwestern Memorial Hospital in Chicago, Illinois. The plausibility of the inferred HCCs for bundled care was assessed through an online survey of a panel of five experts, whose responses were analyzed via an analysis of variance (ANOVA) at a 95% confidence level. We further assessed the face validity of the HCCs using evidence in the published literature. RESULTS: The framework inferred four HCCs, indicative of (1) fetal abnormalities, (2) late pregnancies, (3) prostate problems, and (4) chronic diseases, with congestive heart failure featuring prominently. Each HCC was substantiated with evidence in the literature and was deemed plausible for bundled care by the experts at a statistically significant level. CONCLUSIONS: The findings suggest that an automated EMR data-driven framework conducted can provide a basis for discovering bundled care opportunities. Still, translating such findings into actual care management will require further refinement, implementation, and evaluation.


Asunto(s)
Minería de Datos/métodos , Atención a la Salud/organización & administración , Registros Electrónicos de Salud , Paquetes de Atención al Paciente , Comorbilidad , Humanos , Aprendizaje Automático , Informática Médica , Manejo de Atención al Paciente , Fenotipo , Flujo de Trabajo
8.
J Asthma ; 55(9): 1035-1042, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29027824

RESUMEN

Objective: Comprehensive, rapid, and accurate identification of patients with asthma for clinical care and engagement in research efforts is needed. The original development and validation of a computable phenotype for asthma case identification occurred at a single institution in Chicago and demonstrated excellent test characteristics. However, its application in a diverse payer mix, across different health systems and multiple electronic health record vendors, and in both children and adults was not examined. The objective of this study is to externally validate the computable phenotype across diverse Chicago institutions to accurately identify pediatric and adult patients with asthma. Methods: A cohort of 900 asthma and control patients was identified from the electronic health record between January 1, 2012 and November 30, 2014. Two physicians at each site independently reviewed the patient chart to annotate cases. Results: The inter-observer reliability between the physician reviewers had a κ-coefficient of 0.95 (95% CI 0.93-0.97). The accuracy, sensitivity, specificity, negative predictive value, and positive predictive value of the computable phenotype were all above 94% in the full cohort. Conclusions: The excellent positive and negative predictive values in this multi-center external validation study establish a useful tool to identify asthma cases in in the electronic health record for research and care. This computable phenotype could be used in large-scale comparative-effectiveness trials.


Asunto(s)
Asma/diagnóstico , Asma/tratamiento farmacológico , Registros Electrónicos de Salud/organización & administración , Evaluación del Resultado de la Atención al Paciente , Selección de Paciente , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Chicago , Niño , Conducta Cooperativa , Femenino , Intercambio de Información en Salud , Humanos , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Fenotipo , Reproducibilidad de los Resultados , Adulto Joven
10.
Gastrointest Endosc ; 85(2): 380-386, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27530071

RESUMEN

BACKGROUND AND AIMS: Monitoring adverse events (AEs) after GI endoscopy is an endorsed quality measure but is challenging to implement in practice. Patients with major AEs may seek care elsewhere after endoscopy. We aimed to determine the hospital utilization patterns of patients with AEs after ambulatory endoscopy. METHODS: We used the HealthLNK Data Repository, which uses a software application for integration of deidentified, patient-level clinical data across institutions. Data for patients undergoing outpatient endoscopy from 2010 to 2011 at 5 Chicago-area hospitals were used. Early mortality was defined as death no more than 2 months after the outpatient procedure. AEs were defined as a hospital admission for perforation, bleeding, or pancreatitis the same or following month after endoscopy. RESULTS: During the study period, 42,842 outpatient procedures were performed in 22,898 unique individuals. Early mortality occurred in 86 patients (.4%). Per-patient mortality was greatest after outpatient ERCP (2.5%, P < .0001). Of 86 patients with early mortality, 36 (42%) were not hospitalized at the index hospital after endoscopy. Patients who did not return to the index hospital lived farther from the index hospital (P = .02). In total, 8.3% of ambulatory endoscopies were associated with potential endoscopy-related AEs. The observed rate of potential AEs trended downward as patients' home zip codes moved farther from the index hospital (P = .01). CONCLUSIONS: Nearly half of patients who die soon after outpatient endoscopy are not hospitalized at their index hospital after endoscopy. The observed AE rate was higher for patients living closer to the index hospital, suggesting that patients who live farther away are less likely to return to the index hospital for emergency care. Novel methods to efficiently track outcomes after outpatient endoscopy are needed.


Asunto(s)
Atención Ambulatoria , Endoscopía del Sistema Digestivo , Hospitales , Mortalidad , Complicaciones Posoperatorias/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Chicago , Colangiopancreatografia Retrógrada Endoscópica , Recolección de Datos , Bases de Datos Factuales , Servicio de Urgencia en Hospital , Perforación del Esófago/epidemiología , Femenino , Geografía , Humanos , Perforación Intestinal/epidemiología , Masculino , Persona de Mediana Edad , Pancreatitis/epidemiología , Hemorragia Posoperatoria/epidemiología , Adulto Joven
11.
BMC Infect Dis ; 16(1): 684, 2016 11 17.
Artículo en Inglés | MEDLINE | ID: mdl-27855652

RESUMEN

BACKGROUND: Community associated methicillin-resistant Staphylococcus aureus (CA-MRSA) is one of the most common causes of skin and soft tissue infections in the United States, and a variety of genetic host factors are suspected to be risk factors for recurrent infection. Based on the CDC definition, we have developed and validated an electronic health record (EHR) based CA-MRSA phenotype algorithm utilizing both structured and unstructured data. METHODS: The algorithm was validated at three eMERGE consortium sites, and positive predictive value, negative predictive value and sensitivity, were calculated. The algorithm was then run and data collected across seven total sites. The resulting data was used in GWAS analysis. RESULTS: Across seven sites, the CA-MRSA phenotype algorithm identified a total of 349 cases and 7761 controls among the genotyped European and African American biobank populations. PPV ranged from 68 to 100% for cases and 96 to 100% for controls; sensitivity ranged from 94 to 100% for cases and 75 to 100% for controls. Frequency of cases in the populations varied widely by site. There were no plausible GWAS-significant (p < 5 E -8) findings. CONCLUSIONS: Differences in EHR data representation and screening patterns across sites may have affected identification of cases and controls and accounted for varying frequencies across sites. Future work identifying these patterns is necessary.


Asunto(s)
Algoritmos , Registros Electrónicos de Salud , Estudio de Asociación del Genoma Completo/métodos , Staphylococcus aureus Resistente a Meticilina , Fenotipo , Infecciones Estafilocócicas/diagnóstico , Adulto , Estudios de Casos y Controles , Infecciones Comunitarias Adquiridas/diagnóstico , Infecciones Comunitarias Adquiridas/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Factores de Riesgo , Sensibilidad y Especificidad , Infecciones Estafilocócicas/genética , Estados Unidos
13.
Circulation ; 127(13): 1377-85, 2013 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-23463857

RESUMEN

BACKGROUND: ECG QRS duration, a measure of cardiac intraventricular conduction, varies ≈2-fold in individuals without cardiac disease. Slow conduction may promote re-entrant arrhythmias. METHODS AND RESULTS: We performed a genome-wide association study to identify genomic markers of QRS duration in 5272 individuals without cardiac disease selected from electronic medical record algorithms at 5 sites in the Electronic Medical Records and Genomics (eMERGE) network. The most significant loci were evaluated within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium QRS genome-wide association study meta-analysis. Twenty-three single-nucleotide polymorphisms in 5 loci, previously described by CHARGE, were replicated in the eMERGE samples; 18 single-nucleotide polymorphisms were in the chromosome 3 SCN5A and SCN10A loci, where the most significant single-nucleotide polymorphisms were rs1805126 in SCN5A with P=1.2×10(-8) (eMERGE) and P=2.5×10(-20) (CHARGE) and rs6795970 in SCN10A with P=6×10(-6) (eMERGE) and P=5×10(-27) (CHARGE). The other loci were in NFIA, near CDKN1A, and near C6orf204. We then performed phenome-wide association studies on variants in these 5 loci in 13859 European Americans to search for diagnoses associated with these markers. Phenome-wide association study identified atrial fibrillation and cardiac arrhythmias as the most common associated diagnoses with SCN10A and SCN5A variants. SCN10A variants were also associated with subsequent development of atrial fibrillation and arrhythmia in the original 5272 "heart-healthy" study population. CONCLUSIONS: We conclude that DNA biobanks coupled to electronic medical records not only provide a platform for genome-wide association study but also may allow broad interrogation of the longitudinal incidence of disease associated with genetic variants. The phenome-wide association study approach implicated sodium channel variants modulating QRS duration in subjects without cardiac disease as predictors of subsequent arrhythmias.


Asunto(s)
Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/genética , Marcadores Genéticos/genética , Estudio de Asociación del Genoma Completo/métodos , Sistema de Conducción Cardíaco/fisiopatología , Frecuencia Cardíaca/genética , Adulto , Anciano , Anciano de 80 o más Años , Arritmias Cardíacas/epidemiología , Femenino , Sistema de Conducción Cardíaco/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo
14.
Hum Genet ; 133(1): 95-109, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24026423

RESUMEN

Platelets are enucleated cell fragments derived from megakaryocytes that play key roles in hemostasis and in the pathogenesis of atherothrombosis and cancer. Platelet traits are highly heritable and identification of genetic variants associated with platelet traits and assessing their pleiotropic effects may help to understand the role of underlying biological pathways. We conducted an electronic medical record (EMR)-based study to identify common variants that influence inter-individual variation in the number of circulating platelets (PLT) and mean platelet volume (MPV), by performing a genome-wide association study (GWAS). We characterized genetic variants associated with MPV and PLT using functional, pathway and disease enrichment analyses; we assessed pleiotropic effects of such variants by performing a phenome-wide association study (PheWAS) with a wide range of EMR-derived phenotypes. A total of 13,582 participants in the electronic MEdical Records and GEnomic network had data for PLT and 6,291 participants had data for MPV. We identified five chromosomal regions associated with PLT and eight associated with MPV at genome-wide significance (P < 5E-8). In addition, we replicated 20 SNPs [out of 56 SNPs (α: 0.05/56 = 9E-4)] influencing PLT and 22 SNPs [out of 29 SNPs (α: 0.05/29 = 2E-3)] influencing MPV in a published meta-analysis of GWAS of PLT and MPV. While our GWAS did not find any new associations, our functional analyses revealed that genes in these regions influence thrombopoiesis and encode kinases, membrane proteins, proteins involved in cellular trafficking, transcription factors, proteasome complex subunits, proteins of signal transduction pathways, proteins involved in megakaryocyte development, and platelet production and hemostasis. PheWAS using a single-SNP Bonferroni correction for 1,368 diagnoses (0.05/1368 = 3.6E-5) revealed that several variants in these genes have pleiotropic associations with myocardial infarction, autoimmune, and hematologic disorders. We conclude that multiple genetic loci influence interindividual variation in platelet traits and also have significant pleiotropic effects; the related genes are in multiple functional pathways including those relevant to thrombopoiesis.


Asunto(s)
Pleiotropía Genética , Estudio de Asociación del Genoma Completo/métodos , Volúmen Plaquetario Medio , Recuento de Plaquetas , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades Cardiovasculares/genética , Cromosomas Humanos/genética , Femenino , Sitios Genéticos , Hemostasis , Humanos , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Fenotipo , Trombopoyesis/genética
15.
Am J Hum Genet ; 89(4): 529-42, 2011 Oct 07.
Artículo en Inglés | MEDLINE | ID: mdl-21981779

RESUMEN

We repurposed existing genotypes in DNA biobanks across the Electronic Medical Records and Genomics network to perform a genome-wide association study for primary hypothyroidism, the most common thyroid disease. Electronic selection algorithms incorporating billing codes, laboratory values, text queries, and medication records identified 1317 cases and 5053 controls of European ancestry within five electronic medical records (EMRs); the algorithms' positive predictive values were 92.4% and 98.5% for cases and controls, respectively. Four single-nucleotide polymorphisms (SNPs) in linkage disequilibrium at 9q22 near FOXE1 were associated with hypothyroidism at genome-wide significance, the strongest being rs7850258 (odds ratio [OR] 0.74, p = 3.96 × 10(-9)). This association was replicated in a set of 263 cases and 1616 controls (OR = 0.60, p = 5.7 × 10(-6)). A phenome-wide association study (PheWAS) that was performed on this locus with 13,617 individuals and more than 200,000 patient-years of billing data identified associations with additional phenotypes: thyroiditis (OR = 0.58, p = 1.4 × 10(-5)), nodular (OR = 0.76, p = 3.1 × 10(-5)) and multinodular (OR = 0.69, p = 3.9 × 10(-5)) goiters, and thyrotoxicosis (OR = 0.76, p = 1.5 × 10(-3)), but not Graves disease (OR = 1.03, p = 0.82). Thyroid cancer, previously associated with this locus, was not significantly associated in the PheWAS (OR = 1.29, p = 0.09). The strongest association in the PheWAS was hypothyroidism (OR = 0.76, p = 2.7 × 10(-13)), which had an odds ratio that was nearly identical to that of the curated case-control population in the primary analysis, providing further validation of the PheWAS method. Our findings indicate that EMR-linked genomic data could allow discovery of genes associated with many diseases without additional genotyping cost.


Asunto(s)
Factores de Transcripción Forkhead/genética , Hipotiroidismo/genética , Anciano , Algoritmos , Femenino , Marcadores Genéticos , Variación Genética , Genoma , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Sistemas de Registros Médicos Computarizados , Persona de Mediana Edad , Fenotipo , Valor Predictivo de las Pruebas
16.
Am J Gastroenterol ; 109(12): 1844-9, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24935271

RESUMEN

OBJECTIVES: The objectives of this study were to use an open-source natural language-processing tool (NLP) to accurately assess total, anatomic (left and right colon), and advanced adenoma detection rates (ADRs) and to determine how these metrics differ between high- and low-performing endoscopists. METHODS: An NLP tool was developed using the Apache Unstructured Information Management Architecture and queried all procedure records for screening colonoscopies performed in patients aged 50-75 years at a single institution from April 1998 to December 2013. Validation was performed on 200 procedures and associated pathology reports. The total, left colon, right colon, and advanced ADRs were calculated and physicians were stratified by total ADR (<20% and ≥20%). Comparisons of colonoscopy characteristics and ADR comparisons (advanced, left, right, and right/left ratio) were determined by t-tests and Wilcoxon rank-sum tests. RESULTS: The total ADR for 34,998 screening colonoscopies from 1998 to 2013 was 20.3%, as determined via NLP. The institutional left and right colon ADRs were 10.1% and 12.5%, respectively. The overall advanced ADR was 4.4%. Endoscopists with total ADRs ≥20% had higher left (12.4%) and right colon (16.4%) ADRs than endoscopists with ADRs <20% (left ADR=5.6%, right ADR=5.8%). Endoscopists with ADRs ≥20% had higher individual right/left ADR ratios than those with low ADRs (1.4 (interquartile range (IQR) 0.4) vs. 1.0 (IQR 0.4), P=0.02). There was a moderate positive correlation between advanced ADR detection and both right (Spearman's rho=0.5, P=0.05) and left colon (Spearman's rho=0.4, P=0.03) ADRs. CONCLUSIONS: Institutions should consider the use of anatomic and advanced ADRs determined via natural language processing as a refined measure of colonoscopy quality. The ability to continuously monitor and provide feedback on colonoscopy quality metrics may encourage endoscopists to refine technique, resulting in overall improvements in adenoma detection.


Asunto(s)
Adenoma/diagnóstico , Colon/patología , Colonoscopía/normas , Neoplasias Colorrectales/diagnóstico , Detección Precoz del Cáncer/normas , Procesamiento de Lenguaje Natural , Indicadores de Calidad de la Atención de Salud , Recto/patología , Adenoma/patología , Anciano , Estudios de Cohortes , Neoplasias Colorrectales/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
17.
J Biomed Inform ; 51: 280-6, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24960203

RESUMEN

BACKGROUND: Design patterns, in the context of software development and ontologies, provide generalized approaches and guidance to solving commonly occurring problems, or addressing common situations typically informed by intuition, heuristics and experience. While the biomedical literature contains broad coverage of specific phenotype algorithm implementations, no work to date has attempted to generalize common approaches into design patterns, which may then be distributed to the informatics community to efficiently develop more accurate phenotype algorithms. METHODS: Using phenotyping algorithms stored in the Phenotype KnowledgeBase (PheKB), we conducted an independent iterative review to identify recurrent elements within the algorithm definitions. We extracted and generalized recurrent elements in these algorithms into candidate patterns. The authors then assessed the candidate patterns for validity by group consensus, and annotated them with attributes. RESULTS: A total of 24 electronic Medical Records and Genomics (eMERGE) phenotypes available in PheKB as of 1/25/2013 were downloaded and reviewed. From these, a total of 21 phenotyping patterns were identified, which are available as an online data supplement. CONCLUSIONS: Repeatable patterns within phenotyping algorithms exist, and when codified and cataloged may help to educate both experienced and novice algorithm developers. The dissemination and application of these patterns has the potential to decrease the time to develop algorithms, while improving portability and accuracy.


Asunto(s)
Algoritmos , Ontologías Biológicas , Minería de Datos/métodos , Registros Electrónicos de Salud/clasificación , Genómica/clasificación , Procesamiento de Lenguaje Natural , Reconocimiento de Normas Patrones Automatizadas/métodos , Curaduría de Datos/métodos , Registros Electrónicos de Salud/organización & administración , Genómica/organización & administración , Fenotipo
18.
BMC Health Serv Res ; 14: 425, 2014 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-25248751

RESUMEN

BACKGROUND: To begin to deliver patient-centered care, providers need to be aware of when a patient has a communication disability and what communication methods to use with the patient. The aim of the study was to describe if and how patients' communication disabilities are documented within electronic health records (EHR). METHODS: A retrospective manual chart review of all inpatient and outpatient clinical encounter notes within the EHR for patients who had undergone a laryngectomy at Northwestern Memorial Hospital (Chicago, IL) between 2000-2013. We selected patients who had undergone a laryngectomy as the patient population as we were able to easily identify the patients through Common Procedural Terminology (CPT) codes. RESULTS: We identified 81 patient charts with 7484 encounter notes. Of the 81 patient charts, 58 (72%) had at least one encounter note with a communication notation. Excluding speech-language pathology notes, 1164 (16%) of all encounter notes included some notation of the patients' communication abilities. We coded the communication notations into four categories. 1) Descriptions of communication abilities appeared in 663 (9%) of all encounter notes, 2) descriptions of communication methods appeared in 590 (8%) of all encounter notes, and the last two categories 3) medical management and 4) referrals to speech-language pathology services each appeared in 148 (2%) of all encounter notes. While all patients had the same type of communication disability, aphonia, providers used 39 different terms and phrases to describe aphonia. CONCLUSIONS: Patients' communication abilities were infrequently documented in the EHR. When providers did document a patient's communication disability or method, they used inconsistent descriptions, suggesting a lack of standardized language. Further work is needed to determine how to consistently and accurately document patients' communication abilities so staff and providers can quickly recognize how best to communicate with patients with communication disabilities.


Asunto(s)
Afonía , Documentación/estadística & datos numéricos , Registros Electrónicos de Salud , Anciano , Anciano de 80 o más Años , Chicago , Femenino , Hospitales , Humanos , Laringectomía , Masculino , Auditoría Médica , Persona de Mediana Edad , Estudios Retrospectivos
19.
Clin Infect Dis ; 57(2): 254-62, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23575195

RESUMEN

BACKGROUND: We developed and assessed the impact of a patient registry and electronic admission notification system relating to regional antimicrobial resistance (AMR) on regional AMR infection rates over time. We conducted an observational cohort study of all patients identified as infected or colonized with methicillin-resistant Staphylococcus aureus (MRSA) and/or vancomycin-resistant enterococci (VRE) on at least 1 occasion by any of 5 healthcare systems between 2003 and 2010. The 5 healthcare systems included 17 hospitals and associated clinics in the Indianapolis, Indiana, region. METHODS: We developed and standardized a registry of MRSA and VRE patients and created Web forms that infection preventionists (IPs) used to maintain the lists. We sent e-mail alerts to IPs whenever a patient previously infected or colonized with MRSA or VRE registered for admission to a study hospital from June 2007 through June 2010. RESULTS: Over a 3-year period, we delivered 12 748 e-mail alerts on 6270 unique patients to 24 IPs covering 17 hospitals. One in 5 (22%-23%) of all admission alerts was based on data from a healthcare system that was different from the admitting hospital; a few hospitals accounted for most of this crossover among facilities and systems. CONCLUSIONS: Regional patient registries identify an important patient cohort with relevant prior antibiotic-resistant infection data from different healthcare institutions. Regional registries can identify trends and interinstitutional movement not otherwise apparent from single institution data. Importantly, electronic alerts can notify of the need to isolate early and to institute other measures to prevent transmission.


Asunto(s)
Enterococcus/aislamiento & purificación , Métodos Epidemiológicos , Infecciones por Bacterias Grampositivas/microbiología , Aplicaciones de la Informática Médica , Resistencia a la Meticilina , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Resistencia a la Vancomicina , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Estudios de Cohortes , Notificación de Enfermedades , Enterococcus/efectos de los fármacos , Femenino , Infecciones por Bacterias Grampositivas/epidemiología , Hospitalización , Humanos , Indiana/epidemiología , Masculino , Staphylococcus aureus Resistente a Meticilina/efectos de los fármacos , Persona de Mediana Edad , Prevalencia , Sistema de Registros , Adulto Joven
20.
Ann Hum Genet ; 77(4): 321-32, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23534349

RESUMEN

Electrocardiographic (ECG) measurements vary by ancestry. Genome-wide association studies (GWAS) have identified loci that contribute to ECG measurements; however, most are performed in Europeans collected from population-based cohorts or surveys. The strongest associations reported are in NOS1AP with QT interval and SCN10A with PR and QRS durations. The extent to which these associations can be generalized to African Americans has yet to be determined. Using electronic medical records, PR and QT intervals, QRS duration, and heart rate were determined in 455 African Americans as part of the Vanderbilt Genome-Electronic Records Project and Northwestern University NUgene Project. We tested for an association between these ECG traits and >930K SNPs. We identified a total 36 novel associations with PR interval, QRS duration, QT interval, and heart rate at p < 1.0 × 10(-6). Using published GWAS data, we compared our results with those previously identified in other populations. Five associations originally identified in other populations generalized with respect to statistical significance and direction of effect. A total of 43 associations have a consistent direction of effect with European and/or Asian populations. This work provides a catalogue of generalized versus nongeneralized associations, a necessary step in prioritizing GWAS-identified regions for further fine-mapping in diverse populations.


Asunto(s)
Negro o Afroamericano/genética , Electrocardiografía , Variación Genética , Estudio de Asociación del Genoma Completo , Carácter Cuantitativo Heredable , Adulto , Alelos , Mapeo Cromosómico , Etnicidad/genética , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Población Blanca/genética
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