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1.
Cell ; 173(7): 1692-1704.e11, 2018 06 14.
Artículo en Inglés | MEDLINE | ID: mdl-29779949

RESUMEN

Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a validation of the use of EHRs for genetics and disease research.


Asunto(s)
Registros Electrónicos de Salud , Enfermedades Genéticas Congénitas/genética , Algoritmos , Bases de Datos Factuales , Relaciones Familiares , Enfermedades Genéticas Congénitas/patología , Genotipo , Humanos , Linaje , Fenotipo , Carácter Cuantitativo Heredable
2.
Cell ; 174(6): 1361-1372.e10, 2018 09 06.
Artículo en Inglés | MEDLINE | ID: mdl-30193110

RESUMEN

A key aspect of genomic medicine is to make individualized clinical decisions from personal genomes. We developed a machine-learning framework to integrate personal genomes and electronic health record (EHR) data and used this framework to study abdominal aortic aneurysm (AAA), a prevalent irreversible cardiovascular disease with unclear etiology. Performing whole-genome sequencing on AAA patients and controls, we demonstrated its predictive precision solely from personal genomes. By modeling personal genomes with EHRs, this framework quantitatively assessed the effectiveness of adjusting personal lifestyles given personal genome baselines, demonstrating its utility as a personal health management tool. We showed that this new framework agnostically identified genetic components involved in AAA, which were subsequently validated in human aortic tissues and in murine models. Our study presents a new framework for disease genome analysis, which can be used for both health management and understanding the biological architecture of complex diseases. VIDEO ABSTRACT.


Asunto(s)
Aneurisma de la Aorta Abdominal/patología , Genómica , Animales , Aneurisma de la Aorta Abdominal/genética , Área Bajo la Curva , Modelos Animales de Enfermedad , Regulación de la Expresión Génica , Redes Reguladoras de Genes , Estudio de Asociación del Genoma Completo , Humanos , Aprendizaje Automático , Ratones , Polimorfismo de Nucleótido Simple , Mapas de Interacción de Proteínas , Curva ROC , Secuenciación Completa del Genoma
3.
Gastroenterology ; 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38971198

RESUMEN

BACKGROUND & AIMS: Guidelines recommend use of risk stratification scores for patients presenting with gastrointestinal bleeding (GIB) to identify very-low-risk patients eligible for discharge from emergency departments. Machine learning models may outperform existing scores and can be integrated within the electronic health record (EHR) to provide real-time risk assessment without manual data entry. We present the first EHR-based machine learning model for GIB. METHODS: The training cohort comprised 2,546 patients and internal validation of 850 patients presenting with overt GIB (hematemesis, melena, hematochezia) to emergency departments of 2 hospitals from 2014-2019. External validation was performed on 926 patients presenting to a different hospital with the same EHR from 2014-2019. The primary outcome was a composite of red-blood-cell transfusion, hemostatic intervention (endoscopic, interventional radiologic, or surgical), and 30-day all-cause mortality. We used structured data fields in the EHR available within 4 hours of presentation and compared performance of machine learning models to current guideline-recommended risk scores, Glasgow-Blatchford Score (GBS) and Oakland Score. Primary analysis was area under the receiver-operating-characteristic curve (AUC). Secondary analysis was specificity at 99% sensitivity to assess proportion of patients correctly identified as very-low-risk. RESULTS: The machine learning model outperformed the GBS (AUC=0.92 vs. 0.89;p<0.001) and Oakland score (AUC=0.92 vs. 0.89;p<0.001). At the very-low-risk threshold of 99% sensitivity, the machine learning model identified more very-low-risk patients: 37.9% vs. 18.5% for GBS and 11.7% for Oakland score (p<0.001 for both comparisons). CONCLUSIONS: An EHR-based machine learning model performs better than currently recommended clinical risk scores and identifies more very-low-risk patients eligible for discharge from the emergency department.

4.
Biostatistics ; 25(2): 323-335, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-37475638

RESUMEN

The rich longitudinal individual level data available from electronic health records (EHRs) can be used to examine treatment effect heterogeneity. However, estimating treatment effects using EHR data poses several challenges, including time-varying confounding, repeated and temporally non-aligned measurements of covariates, treatment assignments and outcomes, and loss-to-follow-up due to dropout. Here, we develop the subgroup discovery for longitudinal data algorithm, a tree-based algorithm for discovering subgroups with heterogeneous treatment effects using longitudinal data by combining the generalized interaction tree algorithm, a general data-driven method for subgroup discovery, with longitudinal targeted maximum likelihood estimation. We apply the algorithm to EHR data to discover subgroups of people living with human immunodeficiency virus who are at higher risk of weight gain when receiving dolutegravir (DTG)-containing antiretroviral therapies (ARTs) versus when receiving non-DTG-containing ARTs.


Asunto(s)
Registros Electrónicos de Salud , Infecciones por VIH , Compuestos Heterocíclicos con 3 Anillos , Piperazinas , Piridonas , Humanos , Heterogeneidad del Efecto del Tratamiento , Oxazinas , Infecciones por VIH/tratamiento farmacológico
5.
Mol Cell Proteomics ; 22(6): 100561, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37119971

RESUMEN

The world has witnessed a steady rise in both non-infectious and infectious chronic diseases, prompting a cross-disciplinary approach to understand and treating disease. Current medical care focuses on treating people after they become patients rather than preventing illness, leading to high costs in treating chronic and late-stage diseases. Additionally, a "one-size-fits all" approach to health care does not take into account individual differences in genetics, environment, or lifestyle factors, decreasing the number of people benefiting from interventions. Rapid advances in omics technologies and progress in computational capabilities have led to the development of multi-omics deep phenotyping, which profiles the interaction of multiple levels of biology over time and empowers precision health approaches. This review highlights current and emerging multi-omics modalities for precision health and discusses applications in the following areas: genetic variation, cardio-metabolic diseases, cancer, infectious diseases, organ transplantation, pregnancy, and longevity/aging. We will briefly discuss the potential of multi-omics approaches in disentangling host-microbe and host-environmental interactions. We will touch on emerging areas of electronic health record and clinical imaging integration with muti-omics for precision health. Finally, we will briefly discuss the challenges in the clinical implementation of multi-omics and its future prospects.


Asunto(s)
Genómica , Neoplasias , Humanos , Genómica/métodos , Proteómica/métodos , Multiómica , Metabolómica/métodos
6.
J Allergy Clin Immunol ; 153(3): 772-779.e4, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38040042

RESUMEN

BACKGROUND: Current guidelines recommend a stepwise approach to postpartum pain management, beginning with acetaminophen and nonsteroidal anti-inflammatory drugs (NSAIDs), with opioids added only if needed. Report of a prior NSAID-induced adverse drug reaction (ADR) may preclude use of first-line analgesics, despite evidence that many patients with this allergy label may safely tolerate NSAIDs. OBJECTIVE: We assessed the association between reported NSAID ADRs and postpartum opioid utilization. METHODS: We performed a retrospective cohort study of birthing people who delivered within an integrated health system (January 1, 2017, to December 31, 2020). Study outcomes were postpartum inpatient opioid administrations and opioid prescriptions at discharge. Statistical analysis was performed on a propensity score-matched sample, which was generated with the goal of matching to the covariate distributions from individuals with NSAID ADRs. RESULTS: Of 38,927 eligible participants, there were 883 (2.3%) with an NSAID ADR. Among individuals with reported NSAID ADRs, 49.5% received inpatient opioids in the postpartum period, compared to 34.5% of those with no NSAID ADRs (difference = 15.0%, 95% confidence interval 11.4-18.6%). For patients who received postpartum inpatient opioids, those with NSAID ADRs received a higher total cumulative dose between delivery and hospital discharge (median 30.0 vs 22.5 morphine milligram equivalents [MME] for vaginal deliveries; median 104.4 vs 75.0 MME for cesarean deliveries). The overall proportion of patients receiving an opioid prescription at the time of hospital discharge was higher for patients with NSAID ADRs compared to patients with no NSAID ADRs (39.3% vs 27.2%; difference = 12.1%, 95% confidence interval 8.6-15.6%). CONCLUSION: Patients with reported NSAID ADRs had higher postpartum inpatient opioid utilization and more frequently received opioid prescriptions at hospital discharge compared to those without NSAID ADRs, regardless of mode of delivery.


Asunto(s)
Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Endrín/análogos & derivados , Hipersensibilidad , Embarazo , Femenino , Humanos , Analgésicos Opioides/efectos adversos , Estudios Retrospectivos , Antiinflamatorios no Esteroideos/efectos adversos , Periodo Posparto
7.
J Infect Dis ; 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38995050

RESUMEN

There is growing excitement about the clinical use of artificial intelligence and machine learning technologies. Advancements in computing and the accessibility of machine learning frameworks enable researchers to easily train predictive models using electronic health record data. However, there are several practical factors that must be considered when employing machine learning on electronic health record data. We provide a primer on machine learning and approaches commonly taken to address these challenges. To illustrate how these approaches have been applied to address antimicrobial resistance, we review the use of electronic health record data to construct machine learning models for predicting pathogen carriage or infection, optimizing empiric therapy, and aiding antimicrobial stewardship tasks. Machine learning shows promise in promoting the appropriate use of antimicrobials, although clinical deployment is limited. We conclude by describing potential dangers of, and barriers to, implementation of machine learning models in the clinic.

8.
Circulation ; 147(9): 703-714, 2023 02 28.
Artículo en Inglés | MEDLINE | ID: mdl-36342823

RESUMEN

BACKGROUND: Coronary artery calcium (CAC) can be identified on nongated chest computed tomography (CT) scans, but this finding is not consistently incorporated into care. A deep learning algorithm enables opportunistic CAC screening of nongated chest CT scans. Our objective was to evaluate the effect of notifying clinicians and patients of incidental CAC on statin initiation. METHODS: NOTIFY-1 (Incidental Coronary Calcification Quality Improvement Project) was a randomized quality improvement project in the Stanford Health Care System. Patients without known atherosclerotic cardiovascular disease or a previous statin prescription were screened for CAC on a previous nongated chest CT scan from 2014 to 2019 using a validated deep learning algorithm with radiologist confirmation. Patients with incidental CAC were randomly assigned to notification of the primary care clinician and patient versus usual care. Notification included a patient-specific image of CAC and guideline recommendations regarding statin use. The primary outcome was statin prescription within 6 months. RESULTS: Among 2113 patients who met initial clinical inclusion criteria, CAC was identified by the algorithm in 424 patients. After chart review and additional exclusions were made, a radiologist confirmed CAC among 173 of 194 patients (89.2%) who were randomly assigned to notification or usual care. At 6 months, the statin prescription rate was 51.2% (44/86) in the notification arm versus 6.9% (6/87) with usual care (P<0.001). There was also more coronary artery disease testing in the notification arm (15.1% [13/86] versus 2.3% [2/87]; P=0.008). CONCLUSIONS: Opportunistic CAC screening of previous nongated chest CT scans followed by clinician and patient notification led to a significant increase in statin prescriptions. Further research is needed to determine whether this approach can reduce atherosclerotic cardiovascular disease events. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT04789278.


Asunto(s)
Aterosclerosis , Enfermedades Cardiovasculares , Enfermedad de la Arteria Coronaria , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Calcificación Vascular , Humanos , Calcio , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Vasos Coronarios/diagnóstico por imagen , Factores de Riesgo , Calcificación Vascular/diagnóstico por imagen , Calcificación Vascular/tratamiento farmacológico , Tomografía Computarizada por Rayos X , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/prevención & control , Medición de Riesgo
9.
Am J Epidemiol ; 2024 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-38881045

RESUMEN

Despite increasing prevalence of hypertension in youth and high adult cardiovascular mortality rates, the long-term consequences of youth-onset hypertension remain unknown. This is due to limitations of prior research such as small sample sizes, reliance on manual record review, and limited analytic methods that did not address major biases. The Study of the Epidemiology of Pediatric Hypertension (SUPERHERO) is a multisite retrospective Registry of youth evaluated by subspecialists for hypertension disorders. Sites obtain harmonized electronic health record data using standardized biomedical informatics scripts validated with randomized manual record review. Inclusion criteria are index visit for International Classification of Diseases Diagnostic Codes, 10th Revision (ICD-10 code)-defined hypertension disorder ≥January 1, 2015 and age <19 years. We exclude patients with ICD-10 code-defined pregnancy, kidney failure on dialysis, or kidney transplantation. Data include demographics, anthropomorphics, U.S. Census Bureau tract, histories, blood pressure, ICD-10 codes, medications, laboratory and imaging results, and ambulatory blood pressure. SUPERHERO leverages expertise in epidemiology, statistics, clinical care, and biomedical informatics to create the largest and most diverse registry of youth with newly diagnosed hypertension disorders. SUPERHERO's goals are to (i) reduce CVD burden across the life course and (ii) establish gold-standard biomedical informatics methods for youth with hypertension disorders.

10.
Cancer ; 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38662502

RESUMEN

INTRODUCTION: Structured data capture requires defined languages such as minimal Common Oncology Data Elements (mCODE). This pilot assessed the feasibility of capturing 5 mCODE categories (stage, disease status, performance status (PS), intent of therapy and intent to change therapy). METHODS: A tool (SmartPhrase) using existing and custom structured data elements was Built to capture 4 data categories (disease status, PS, intent of therapy and intent to change therapy) typically documented as free-text within notes. Existing functionality for stage was supported by the Build. Participant survey data, presence of data (per encounter), and time in chart were collected prior to go-live and repeat timepoints. The anticipated outcome was capture of >50% sustained over time without undue burden. RESULTS: Pre-intervention (5-weeks before go-live), participants had 1390 encounters (1207 patients). The median percent capture across all participants was 32% for stage; no structured data was available for other categories pre-intervention. During a 6-month pilot with 14 participants across three sites, 4995 encounters (3071 patients) occurred. The median percent capture across all participants and all post-intervention months increased to 64% for stage and 81%-82% for the other data categories post-intervention. No increase in participant time in chart was noted. Participants reported that data were meaningful to capture. CONCLUSIONS: Structured data can be captured (1) in real-time, (2) sustained over time without (3) undue provider burden using note-based tools. Our system is expanding the pilot, with integration of these data into clinical decision support, practice dashboards and potential for clinical trial matching.

11.
Am J Transplant ; 24(5): 711-715, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38266711

RESUMEN

Medication nonadherence after solid organ transplantation is recognized as an important impediment to long-term graft survival. Yet, assessment of adherence is often not part of routine care. In this Personal Viewpoint, we call for the transplant community to consider implementing a systematic process to screen and assess medication adherence. We believe acceptable tools are available to support integrating adherence assessments into the electronic health record. Creating a standard assessment can be done efficiently and cost-effectively if we come together as a community. More importantly, such monitoring can improve outcomes and strengthen provider-patient relationships. We further discuss the practical challenges and potential rebuttals to our position.


Asunto(s)
Registros Electrónicos de Salud , Cumplimiento de la Medicación , Trasplante de Órganos , Humanos , Cumplimiento de la Medicación/estadística & datos numéricos , Supervivencia de Injerto
12.
Am J Hum Genet ; 108(1): 194-201, 2021 01 07.
Artículo en Inglés | MEDLINE | ID: mdl-33357513

RESUMEN

Given the coronavirus disease 2019 (COVID-19) pandemic, investigations into host susceptibility to infectious diseases and downstream sequelae have never been more relevant. Pneumonia is a lung disease that can cause respiratory failure and hypoxia and is a common complication of infectious diseases, including COVID-19. Few genome-wide association studies (GWASs) of host susceptibility and severity of pneumonia have been conducted. We performed GWASs of pneumonia susceptibility and severity in the Vanderbilt University biobank (BioVU) with linked electronic health records (EHRs), including Illumina Expanded Multi-Ethnic Global Array (MEGAEX)-genotyped European ancestry (EA, n= 69,819) and African ancestry (AA, n = 15,603) individuals. Two regions of large effect were identified: the CFTR locus in EA (rs113827944; OR = 1.84, p value = 1.2 × 10-36) and HBB in AA (rs334 [p.Glu7Val]; OR = 1.63, p value = 3.5 × 10-13). Mutations in these genes cause cystic fibrosis (CF) and sickle cell disease (SCD), respectively. After removing individuals diagnosed with CF and SCD, we assessed heterozygosity effects at our lead variants. Further GWASs after removing individuals with CF uncovered an additional association in R3HCC1L (rs10786398; OR = 1.22, p value = 3.5 × 10-8), which was replicated in two independent datasets: UK Biobank (n = 459,741) and 7,985 non-overlapping BioVU subjects, who are genotyped on arrays other than MEGAEX. This variant was also validated in GWASs of COVID-19 hospitalization and lung function. Our results highlight the importance of the host genome in infectious disease susceptibility and severity and offer crucial insight into genetic effects that could potentially influence severity of COVID-19 sequelae.


Asunto(s)
COVID-19/complicaciones , COVID-19/genética , Interacciones Huésped-Patógeno/genética , Neumonía Viral/complicaciones , Neumonía Viral/genética , Bronquitis/genética , COVID-19/patología , COVID-19/fisiopatología , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Bases de Datos Genéticas , Registros Electrónicos de Salud , Femenino , Estudio de Asociación del Genoma Completo , Genotipo , Hemoglobinas/genética , Humanos , Pacientes Internos , Desequilibrio de Ligamiento , Masculino , Pacientes Ambulatorios , Neumonía Viral/patología , Neumonía Viral/fisiopatología , Polimorfismo de Nucleótido Simple/genética , Análisis de Componente Principal , Enfermedad Pulmonar Obstructiva Crónica/genética , Reproducibilidad de los Resultados , Reino Unido
13.
J Pediatr ; 269: 113973, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38401785

RESUMEN

OBJECTIVE: To test whether different clinical decision support tools increase clinician orders and patient completions relative to standard practice and each other. STUDY DESIGN: A pragmatic, patient-randomized clinical trial in the electronic health record was conducted between October 2019 and April 2020 at Geisinger Health System in Pennsylvania, with 4 arms: care gap-a passive listing recommending screening; alert-a panel promoting and enabling lipid screen orders; both; and a standard practice-no guideline-based notification-control arm. Data were analyzed for 13 346 9- to 11-year-old patients seen within Geisinger primary care, cardiology, urgent care, or nutrition clinics, or who had an endocrinology visit. Principal outcomes were lipid screening orders by clinicians and completions by patients within 1 week of orders. RESULTS: Active (care gap and/or alert) vs control arm patients were significantly more likely (P < .05) to have lipid screening tests ordered and completed, with ORs ranging from 1.67 (95% CI 1.28-2.19) to 5.73 (95% CI 4.46-7.36) for orders and 1.54 (95% CI 1.04-2.27) to 2.90 (95% CI 2.02-4.15) for completions. Alerts, with or without care gaps listed, outperformed care gaps alone on orders, with odds ratios ranging from 2.92 (95% CI 2.32-3.66) to 3.43 (95% CI 2.73-4.29). CONCLUSIONS: Electronic alerts can increase lipid screening orders and completions, suggesting clinical decision support can improve guideline-concordant screening. The study also highlights electronic record-based patient randomization as a way to determine relative effectiveness of support tools. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT04118348.


Asunto(s)
Sistemas de Apoyo a Decisiones Clínicas , Tamizaje Masivo , Niño , Femenino , Humanos , Masculino , Registros Electrónicos de Salud , Lípidos/sangre , Tamizaje Masivo/métodos
14.
J Gen Intern Med ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38926324

RESUMEN

BACKGROUND: Studies have demonstrated patients hold different expectations for female physicians compared to male physicians, including higher expectations for patient-centered communication and addressing socioeconomic or emotional needs. Recent evidence indicates this gender disparity extends to the electronic health record (EHR). Similar studies have not been conducted with resident physicians. OBJECTIVE: This study seeks to characterize differences in EHR workload for female resident physicians compared to male resident physicians. DESIGN: This study evaluated 12 months of 156 Mayo Clinic internal medicine residents' inbasket data from July 2020 to June 2021 using Epic's Signal and Physician Efficiency Profile (PEP) data. Excel, BlueSky Statistics, and SAS analytical software were used for analysis. Paired t-tests and analysis of variance were used to compare PEP data by gender and postgraduate year (PGY). "Male" and "female" were used in substitute for "gender" as is precedent in the literature. SUBJECTS: Mayo Clinic internal medicine residents. MAIN MEASURES: Total time spent in EHR per day; time in inbasket and notes per day; time in notes per appointment; number of patient advice requests made through the portal; message turnaround time. KEY RESULTS: Female residents received more patient advice requests per year (p = 0.004) with an average of 86.7 compared to 68, resulting in 34% more patient advice requests per day worked (p < 0.001). Female residents spent more time in inbasket per day (p = 0.002), in notes per day (p < 0.001), and in notes per appointment (p = 0.001). Resident panel comparisons revealed equivocal sizes with significantly more female patients on female (n = 55) vs male (n = 34) resident panels (p < 0.001). There was no difference in message turnaround time, total messages, or number of results received. CONCLUSIONS: Female resident physicians experience significantly more patient-initiated messages and EHR workload despite equivalent number of results and panel size. Gender differences in inbasket burden may disproportionally impact the resident educational experience.

15.
J Rheumatol ; 51(5): 529-537, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38428964

RESUMEN

OBJECTIVE: Many individuals with rheumatic disease are at higher risk for severe acute coronavirus disease 2019 (COVID-19). We aimed to evaluate risk factors for postacute sequelae of COVID-19 (PASC) using an electronic health record (EHR)-based definition. METHODS: We identified patients with prevalent rheumatic diseases and COVID-19 within the Mass General Brigham healthcare system. PASC was defined by the International Classification of Diseases, 10th revision (ICD-10) codes, relevant labs, vital signs, and medications at least 30 days following the first COVID-19 infection. Patients were followed until the earliest of incident PASC, repeat COVID-19 infection, 1 year of follow-up, death, or February 19, 2023. We used multivariable Cox regression to estimate the association of baseline characteristics with PASC risk. RESULTS: Among 2459 patients (76.37% female, mean age 57.4 years), the most common incident PASC manifestations were cough (14.56%), dyspnea (12.36%), constipation (11.39%), and fatigue (10.70%). Serious manifestations including acute coronary disease (4.43%), thromboembolism (3.09%), hypoxemia (3.09%), stroke (1.75%), and myocarditis (0.12%) were rare. The Delta wave (adjusted hazard ratio [aHR] 0.63, 95% CI 0.49-0.82) and Omicron era (aHR 0.50, 95% CI 0.41-0.62) were associated with lower risk of PASC than the early pandemic period (March 2020-June 2021). Age, obesity, comorbidity burden, race, and hospitalization for acute COVID-19 infection were associated with greater risk of PASC. Glucocorticoid (GC) use (aHR 1.19, 95% CI 1.05-1.34 compared to no use) was associated with greater risk of PASC. CONCLUSION: Among patients with rheumatic diseases, following their first COVID-19 infection, we found a decreased risk of PASC over calendar time using an EHR-based definition. Aside from GCs, no specific immunomodulatory medications were associated with increased risk, and risk factors were otherwise similar to those seen in the general population.


Asunto(s)
COVID-19 , Registros Electrónicos de Salud , Enfermedades Reumáticas , Humanos , COVID-19/epidemiología , COVID-19/complicaciones , Femenino , Masculino , Persona de Mediana Edad , Enfermedades Reumáticas/epidemiología , Enfermedades Reumáticas/complicaciones , Anciano , Factores de Riesgo , SARS-CoV-2 , Adulto , Enfermedades Autoinmunes/epidemiología , Enfermedades Autoinmunes/complicaciones , Síndrome Post Agudo de COVID-19 , Comorbilidad
16.
Am J Med Genet A ; 194(4): e63495, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38066696

RESUMEN

Turner syndrome (TS) is a genetic condition occurring in ~1 in 2000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single-center, underpowered studies. Secondary data analyses utilizing electronic health record (EHR) have the potential to address these limitations; however, an algorithm to accurately identify TS cases in EHR data is needed. We developed a computable phenotype to identify patients with TS using PEDSnet, a pediatric research network. This computable phenotype was validated through chart review; true positives and negatives and false positives and negatives were used to assess accuracy at both primary and external validation sites. The optimal algorithm consisted of the following criteria: female sex, ≥1 outpatient encounter, and ≥3 encounters with a diagnosis code that maps to TS, yielding an average sensitivity of 0.97, specificity of 0.88, and C-statistic of 0.93 across all sites. The accuracy of any estradiol prescriptions yielded an average C-statistic of 0.91 across sites and 0.80 for transdermal and oral formulations separately. PEDSnet and computable phenotyping are powerful tools in providing large, diverse samples to pragmatically study rare pediatric conditions like TS.


Asunto(s)
Registros Electrónicos de Salud , Síndrome de Turner , Humanos , Niño , Femenino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Fenotipo , Algoritmos , Estradiol
17.
Lupus ; 33(5): 525-531, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38454796

RESUMEN

Objective: Late-onset systemic lupus erythematosus (LO-SLE) is defined as SLE diagnosed at age 50 years or later. Current studies on LO-SLE are small and have conflicting results.Methods: Using a large, electronic health record (EHR)-based cohort of SLE individuals, we compared demographics, disease characteristics, SLE-specific antibodies, and medication prescribing practices in LO (n = 123) vs. NLO-SLE (n = 402) individuals.Results: The median age (interquartile range) at SLE diagnosis was 60 (56-67) years for LO-SLE and 28 (20-38) years for NLO-SLE. Both groups were predominantly female (85% vs. 91%, p = 0.10). LO-SLE individuals were more likely to be White than NLO-SLE individuals (74% vs. 60%, p = 0.005) and less likely to have positive dsDNA (39% vs. 58%, p = 0.001) and RNP (17% vs. 32%, p = 0.02) with no differences in Smith, SSA, and SSB. Autoantibody positivity declined with increasing age at SLE diagnosis. LO-SLE individuals were less likely to develop SLE nephritis (9% vs. 29%, p < 0.001) and less likely to be prescribed multiple classes of SLE medications including antimalarials (90% vs. 95%, p = 0.04), azathioprine (17% vs. 31%, p = 0.002), mycophenolate mofetil (12% vs. 38%, p < 0.001), and belimumab (2% vs. 8%, p = 0.02).Conclusion: LO-SLE individuals may be less likely to fit an expected course for SLE with less frequent positive autoantibodies at diagnosis and lower rates of nephritis, even after adjusting for race. Understanding how age impacts SLE disease presentation could help reduce diagnostic delays in SLE.


Asunto(s)
Lupus Eritematoso Sistémico , Nefritis Lúpica , Humanos , Femenino , Persona de Mediana Edad , Masculino , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Lupus Eritematoso Sistémico/epidemiología , Registros Electrónicos de Salud , Edad de Inicio , Nefritis Lúpica/diagnóstico , Nefritis Lúpica/tratamiento farmacológico , Nefritis Lúpica/epidemiología , Autoanticuerpos/uso terapéutico
18.
J Surg Res ; 295: 148-157, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38016268

RESUMEN

INTRODUCTION: The U.S. Military uses handwritten documentation throughout the continuum of combat casualty care to document from point-of-injury, during transport and at facilities that provide damage control resuscitation and surgery. Proven impractical due to lack of durability and legibility in arduous tactical environments, we hypothesized that mobile applications would increase accuracy and completeness of documentation in combat casualty simulations. METHODS: We conducted simulations across this continuum utilizing 10 two-person teams consisting of a Medic and an Emergency or Critical Care Nurse. Participants were randomized to either the paper group or BATDOK and T6 Health Systems mobile application group. Simulations were completed in both the classroom and simulated field environments. All documentation was assessed for speed, completeness, and accuracy. RESULTS: Participant demographics averaged 10.8 ± 5.2 y of military service and 3.9 ± 0.6 h of training on both platforms. Classroom testing showed a significant increase in completeness (84.2 ± 8.1% versus 77.2 ± 6.9%; P = 0.02) and accuracy (77.6 ± 8.1% versus 68.9 ± 7.5%; P = 0.01) for mobile applications versus paper with no significant difference in overall time to completion (P = 0.19). Field testing again showed a significant increase in completeness (91.6 ± 5.8 % versus 70.0 ± 14.1%; P < 0.01) and accuracy (87.7 ± 7.6% versus 64.1 ± 14.4%; P < 0.01) with no significant difference in overall time to completion (P = 0.44). CONCLUSIONS: In deployed environments, mobile applications have the potential to improve casualty care documentation completeness and accuracy with minimal additional training. These efforts will assist in meeting an urgent operational need to enable our providers.


Asunto(s)
Servicios Médicos de Urgencia , Medicina Militar , Personal Militar , Aplicaciones Móviles , Humanos , Resucitación
19.
CA Cancer J Clin ; 67(2): 93-99, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28094848

RESUMEN

The American Joint Committee on Cancer (AJCC) staging manual has become the benchmark for classifying patients with cancer, defining prognosis, and determining the best treatment approaches. Many view the primary role of the tumor, lymph node, metastasis (TNM) system as that of a standardized classification system for evaluating cancer at a population level in terms of the extent of disease, both at initial presentation and after surgical treatment, and the overall impact of improvements in cancer treatment. The rapid evolution of knowledge in cancer biology and the discovery and validation of biologic factors that predict cancer outcome and response to treatment with better accuracy have led some cancer experts to question the utility of a TNM-based approach in clinical care at an individualized patient level. In the Eighth Edition of the AJCC Cancer Staging Manual, the goal of including relevant, nonanatomic (including molecular) factors has been foremost, although changes are made only when there is strong evidence for inclusion. The editorial board viewed this iteration as a proactive effort to continue to build the important bridge from a "population-based" to a more "personalized" approach to patient classification, one that forms the conceptual framework and foundation of cancer staging in the era of precision molecular oncology. The AJCC promulgates best staging practices through each new edition in an effort to provide cancer care providers with a powerful, knowledge-based resource for the battle against cancer. In this commentary, the authors highlight the overall organizational and structural changes as well as "what's new" in the Eighth Edition. It is hoped that this information will provide the reader with a better understanding of the rationale behind the aggregate proposed changes and the exciting developments in the upcoming edition. CA Cancer J Clin 2017;67:93-99. © 2017 American Cancer Society.


Asunto(s)
Estadificación de Neoplasias/métodos , Medicina de Precisión/métodos , Diagnóstico por Imagen , Humanos , Metástasis Linfática , Estadificación de Neoplasias/normas , Guías de Práctica Clínica como Asunto , Medicina de Precisión/normas , Terminología como Asunto , Estados Unidos
20.
BMC Med Res Methodol ; 24(1): 70, 2024 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-38494497

RESUMEN

BACKGROUND AND OBJECTIVE: Clinical trials are of high importance for medical progress. This study conducted a systematic review to identify the applications of EHRs in supporting and enhancing clinical trials. MATERIALS AND METHODS: A systematic search of PubMed was conducted on 12/3/2023 to identify relevant studies on the use of EHRs in clinical trials. Studies were included if they (1) were full-text journal articles, (2) were written in English, (3) examined applications of EHR data to support clinical trial processes (e.g. recruitment, screening, data collection). A standardized form was used by two reviewers to extract data on: study design, EHR-enabled process(es), related outcomes, and limitations. RESULTS: Following full-text review, 19 studies met the predefined eligibility criteria and were included. Overall, included studies consistently demonstrated that EHR data integration improves clinical trial feasibility and efficiency in recruitment, screening, data collection, and trial design. CONCLUSIONS: According to the results of the present study, the use of Electronic Health Records in conducting clinical trials is very helpful. Therefore, it is better for researchers to use EHR in their studies for easy access to more accurate and comprehensive data. EHRs collects all individual data, including demographic, clinical, diagnostic, and therapeutic data. Moreover, all data is available seamlessly in EHR. In future studies, it is better to consider the cost-effectiveness of using EHR in clinical trials.


Asunto(s)
Registros Electrónicos de Salud , Proyectos de Investigación , Humanos , Recolección de Datos , PubMed , Ensayos Clínicos como Asunto
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