Leveraging Electronic Health Records to Assess Residential Mobility Among Veterans in the Veterans Health Administration.

BACKGROUND: Residential mobility, or a change in residence, can influence health care utilization and outcomes. Health systems can leverage their patients' residential addresses stored in their electronic health records (EHRs) to better understand the relationships among patients' residences, mobility, and health. The Veteran Health Administration (VHA), with a unique nationwide network of health care systems and integrated EHR, holds greater potential for examining these relationships. METHODS: We conducted a cross-sectional analysis to examine the association of sociodemographics, clinical conditions, and residential mobility. We defined residential mobility by the number of VHA EHR residential addresses identified for each patient in a 1-year period (1/1-12/31/2018), with 2 different addresses indicating one move. We used generalized logistic regression to model the relationship between a priori selected correlates and residential mobility as a multinomial outcome (0, 1, ≥2 moves). RESULTS: In our sample, 84.4% (n=3,803,475) veterans had no move, 13.0% (n=587,765) had 1 move, and 2.6% (n=117,680) had ≥2 moves. In the multivariable analyses, women had greater odds of moving [aOR=1.11 (95% CI: 1.10,1.12) 1 move; 1.27 (1.25,1.30) ≥2 moves] than men. Veterans with substance use disorders also had greater odds of moving [aOR=1.26 (1.24,1.28) 1 move; 1.77 (1.72,1.81) ≥2 moves]. DISCUSSION: Our study suggests about 16% of veterans seen at VHA had at least 1 residential move in 2018. VHA data can be a resource to examine relationships between place, residential mobility, and health.

Deploying a national clinical text processing infrastructure.

OBJECTIVES: Clinical text processing offers a promising avenue for improving multiple aspects of healthcare, though operational deployment remains a substantial challenge. This case report details the implementation of a national clinical text processing infrastructure within the Department of Veterans Affairs (VA). METHODS: Two foundational use cases, cancer case management and suicide and overdose prevention, illustrate how text processing can be practically implemented at scale for diverse clinical applications using shared services. RESULTS: Insights from these use cases underline both commonalities and differences, providing a replicable model for future text processing applications. CONCLUSIONS: This project enables more efficient initiation, testing, and future deployment of text processing models, streamlining the integration of these use cases into healthcare operations. This project implementation is in a large integrated health delivery system in the United States, but we expect the lessons learned to be relevant to any health system, including smaller local and regional health systems in the United States.

HIV care using differentiated service delivery during the COVID-19 pandemic: a nationwide cohort study in the US Department of Veterans Affairs.

INTRODUCTION: The Department of Veterans Affairs (VA) is the largest provider of HIV care in the United States. Changes in healthcare delivery became necessary with the COVID-19 pandemic. We compared HIV healthcare delivery during the first year of the COVID-19 pandemic to a prior similar calendar period. METHODS: We included 27,674 people with HIV (PWH) enrolled in the Veterans Aging Cohort Study prior to 1 March 2019, with ≥1 healthcare encounter from 1 March 2019 to 29 February 2020 (2019) and/or 1 March 2020 to 28 February 2021 (2020). We counted monthly general medicine/infectious disease (GM/ID) clinic visits and HIV-1 RNA viral load (VL) tests. We determined the percentage with ≥1 clinic visit (in-person vs. telephone/video [virtual]) and ≥1 VL test (detectable vs. suppressed) for 2019 and 2020. Using pharmacy records, we summarized antiretroviral (ARV) medication refill length (<90 vs. ≥90 days) and monthly ARV coverage. RESULTS: Most patients had ≥1 GM/ID visit in 2019 (96%) and 2020 (95%). For 2019, 27% of visits were virtual compared to 64% in 2020. In 2019, 82% had VL measured compared to 74% in 2020. Of those with VL measured, 92% and 91% had suppressed VL in 2019 and 2020. ARV refills for ≥90 days increased from 39% in 2019 to 51% in 2020. ARV coverage was similar for all months of 2019 and 2020 ranging from 76% to 80% except for March 2019 (72%). Women were less likely than men to be on ARVs or to have a VL test in both years. CONCLUSIONS: During the COVID-19 pandemic, the VA increased the use of virtual visits and longer ARV refills, while maintaining a high percentage of patients with suppressed VL among those with VL measured. Despite decreased in-person services during the pandemic, access to ARVs was not disrupted. More follow-up time is needed to determine whether overall health was impacted by the use of differentiated service delivery and to evaluate whether a long-term shift to increased virtual healthcare could be beneficial, particularly for PWH in rural areas or with transportation barriers. Programmes to increase ARV use and VL testing for women are needed.

Development and validation of a 30-day mortality index based on pre-existing medical administrative data from 13,323 COVID-19 patients: The Veterans Health Administration COVID-19 (VACO) Index.

BACKGROUND: Available COVID-19 mortality indices are limited to acute inpatient data. Using nationwide medical administrative data available prior to SARS-CoV-2 infection from the US Veterans Health Administration (VA), we developed the VA COVID-19 (VACO) 30-day mortality index and validated the index in two independent, prospective samples. METHODS AND FINDINGS: We reviewed SARS-CoV-2 testing results within the VA between February 8 and August 18, 2020. The sample was split into a development cohort (test positive between March 2 and April 15, 2020), an early validation cohort (test positive between April 16 and May 18, 2020), and a late validation cohort (test positive between May 19 and July 19, 2020). Our logistic regression model in the development cohort considered demographics (age, sex, race/ethnicity), and pre-existing medical conditions and the Charlson Comorbidity Index (CCI) derived from ICD-10 diagnosis codes. Weights were fixed to create the VACO Index that was then validated by comparing area under receiver operating characteristic curves (AUC) in the early and late validation cohorts and among important validation cohort subgroups defined by sex, race/ethnicity, and geographic region. We also evaluated calibration curves and the range of predictions generated within age categories. 13,323 individuals tested positive for SARS-CoV-2 (median age: 63 years; 91% male; 42% non-Hispanic Black). We observed 480/3,681 (13%) deaths in development, 253/2,151 (12%) deaths in the early validation cohort, and 403/7,491 (5%) deaths in the late validation cohort. Age, multimorbidity described with CCI, and a history of myocardial infarction or peripheral vascular disease were independently associated with mortality-no other individual comorbid diagnosis provided additional information. The VACO Index discriminated mortality in development (AUC = 0.79, 95% CI: 0.77-0.81), and in early (AUC = 0.81 95% CI: 0.78-0.83) and late (AUC = 0.84, 95% CI: 0.78-0.86) validation. The VACO Index allows personalized estimates of 30-day mortality after COVID-19 infection. For example, among those aged 60-64 years, overall mortality was estimated at 9% (95% CI: 6-11%). The Index further discriminated risk in this age stratum from 4% (95% CI: 3-7%) to 21% (95% CI: 12-31%), depending on sex and comorbid disease. CONCLUSION: Prior to infection, demographics and comorbid conditions can discriminate COVID-19 mortality risk overall and within age strata. The VACO Index reproducibly identified individuals at substantial risk of COVID-19 mortality who might consider continuing social distancing, despite relaxed state and local guidelines.

Dual Use of a Patient Portal and Clinical Video Telehealth by Veterans with Mental Health Diagnoses: Retrospective, Cross-Sectional Analysis.

BACKGROUND: Access to mental health care is challenging. The Veterans Health Administration (VHA) has been addressing these challenges through technological innovations including the implementation of Clinical Video Telehealth, two-way interactive and synchronous videoconferencing between a provider and a patient, and an electronic patient portal and personal health record, My HealtheVet. OBJECTIVE: This study aimed to describe early adoption and use of My HealtheVet and Clinical Video Telehealth among VHA users with mental health diagnoses. METHODS: We conducted a retrospective, cross-sectional analysis of early My HealtheVet adoption and Clinical Video Telehealth engagement among veterans with one or more mental health diagnoses who were VHA users from 2007 to 2012. We categorized veterans into four electronic health (eHealth) technology use groups: My HealtheVet only, Clinical Video Telehealth only, dual users who used both, and nonusers of either. We examined demographic characteristics and mental health diagnoses by group. We explored My HealtheVet feature use among My HealtheVet adopters. We then explored predictors of My HealtheVet adoption, Clinical Video Telehealth engagement, and dual use using multivariate logistic regression. RESULTS: Among 2.17 million veterans with one or more mental health diagnoses, 1.51% (32,723/2,171,325) were dual users, and 71.72% (1,557,218/2,171,325) were nonusers of both My HealtheVet and Clinical Video Telehealth. African American and Latino patients were significantly less likely to engage in Clinical Video Telehealth or use My HealtheVet compared with white patients. Low-income patients who met the criteria for free care were significantly less likely to be My HealtheVet or dual users than those who did not. The odds of Clinical Video Telehealth engagement and dual use decreased with increasing age. Women were more likely than men to be My HealtheVet or dual users but less likely than men to be Clinical Video Telehealth users. Patients with schizophrenia or schizoaffective disorder were significantly less likely to be My HealtheVet or dual users than those with other mental health diagnoses (odds ratio, OR 0.50, CI 0.47-0.53 and OR 0.75, CI 0.69-0.80, respectively). Dual users were younger (53.08 years, SD 13.7, vs 60.11 years, SD 15.83), more likely to be white, and less likely to be low-income than the overall cohort. Although rural patients had 17% lower odds of My HealtheVet adoption compared with urban patients (OR 0.83, 95% CI 0.80-0.87), they were substantially more likely than their urban counterparts to engage in Clinical Video Telehealth and dual use (OR 2.45, 95% CI 1.95-3.09 for Clinical Video Telehealth and OR 2.11, 95% CI 1.81-2.47 for dual use). CONCLUSIONS: During this study (2007-2012), use of these technologies was low, leaving much potential for growth. There were sociodemographic disparities in access to My HealtheVet and Clinical Video Telehealth and in dual use of these technologies. There was also variation based on types of mental health diagnosis. More research is needed to ensure that these and other patient-facing eHealth technologies are accessible and effectively used by all vulnerable patients.

Estimating healthcare mobility in the Veterans Affairs Healthcare System.

BACKGROUND: Healthcare mobility, defined as healthcare utilization in more than one distinct healthcare system, may have detrimental effects on outcomes of care. We characterized healthcare mobility and associated characteristics among a national sample of Veterans. METHODS: Using the Veterans Health Administration Electronic Health Record, we conducted a retrospective cohort study to quantify healthcare mobility within a four year period. We examined the association between sociodemographic and clinical characteristics and healthcare mobility, and characterized possible temporal and geographic patterns of healthcare mobility. RESULTS: Approximately nine percent of the sample were healthcare mobile. Younger Veterans, divorced or separated Veterans, and those with hepatitis C virus and psychiatric disorders were more likely to be healthcare mobile. We demonstrated two possible patterns of healthcare mobility, related to specialty care and lifestyle, in which Veterans repeatedly utilized two different healthcare systems. CONCLUSIONS: Healthcare mobility is associated with young age, marital status changes, and also diseases requiring intensive management. This type of mobility may affect disease prevention and management and has implications for healthcare systems that seek to improve population health.

The need for validation of large administrative databases: Veterans Health Administration ICD-9CM coding of exudative age-related macular degeneration and ranibizumab usage.

We performed a validation study by chart review of data for exudative age-related macular degeneration (eAMD) and, because of the Veterans Administration (VA) therapy policy, ranibizumab usage in the largest electronic medical record system in the USA. We reviewed 5,854 distinct patients who visited an ophthalmology clinic within VA Connecticut from January 2006-December 2008. We randomly selected 98 of 138 distinct eAMD patients and 265 of 5,588 non-eAMD patients who did not receive ranibizumab. International Classification of Diseases, Ninth Revision, Clinical Modification coding of eAMD had an excellent positive predictive value of 97.8% (95% confidence interval (CI), 93.5-99.4%). The national Decision Support System (DSS) had an excellent positive predictive value of 100% (95% CI, 79.9-100%) for ranibizumab. However, the negative predictive value of the DSS dispensed ranibizumab decreased to 67.5 (95% CI, 62.1-72.4) because of a change in the way local values were stored that led to errors. Therefore, validation of clinical information over time in large databases is necessary.

Clinical significance of neurological soft signs in schizophrenia: factor analysis of the Neurological Evaluation Scale.

BACKGROUND: Nonlocalizing neurologic deficits detectable by clinical evaluation-"soft signs"-are a robust finding in patients diagnosed with schizophrenia, but their conceptual and neuroanatomical correlates remain unclear. The purpose of this study was to evaluate the organization of these deficits and their clinical correlates using the Neurological Evaluation Scale (NES). METHODS: Ninety-three male veterans with schizophrenia and schizoaffective disorder were evaluated using a detailed clinical assessment that included the NES, the Extrapyramidal Symptom Rating Scale, the Abnormal Involuntary Movement Scale (AIMS), the Barnes Akathisia Scale, the Positive and Negative Syndrome Scale, the Wisconsin Card Sorting Test (WCST), the Schedule for the Deficit Syndrome (SDS), and the Digit Symbol Substitution Task (DSST). RESULTS: Four factors explained 73% of the variance and had distinct clinical and neuropsychological correlates. Factor 1 reflected deficits involved with memory and sensory integration, and was associated with lower PANSS positive and higher AIMS scores. Factor 2 reflected impairments in motor control, and was associated with lower intelligence, more cognitive deficits, and deficit-syndrome schizophrenia. Factor 3 was related to lower intelligence and more perseverative errors on the WCST. Factor 4 was related to increasing age, more extrapyramidal symptoms, more perseverative errors, and worse scores on the DSST. CONCLUSIONS: Neurologic deficits in schizophrenia have an intrinsic organization that appears to have clinical significance, highlighting the continued utility of the NES in studies of neurological deficits in schizophrenia patients. The theoretical underpinning of this organization remains unclear.

Gender differences in rates of depression, PTSD, pain, obesity, and military sexual trauma among Connecticut War Veterans of Iraq and Afghanistan.

PURPOSE: The current wars in Iraq and Afghanistan have led to an increasing number of female veterans seeking medical and mental healthcare in the Department of Veterans Affairs (VA) healthcare system. To better understand gender differences in healthcare needs among recently returned veterans, we examined the prevalence of positive screenings for depression, posttraumatic stress disorder (PTSD), military sexual trauma (MST), obesity, and chronic pain among female and male veterans of Operation Enduring Freedom/Operation Iraqi Freedom (OEF/OIF) receiving care at the VA Connecticut Healthcare System. METHODS: We performed a retrospective, cross-sectional data analysis of OEF/OIF veterans at VA Connecticut who received services in either Primary Care or the Women's Health Clinic between 2001 and 2006. RESULTS: In this study, 1129 electronic medical records (1032 men, 197 women) were examined. Female veterans were more likely to screen positive for MST (14% vs. 1%, p < 0.001) and depression (48% vs. 39%, p = 0.01) and less likely to screen positive for PTSD (21% vs. 33%, p = 0.002). There was no significant gender difference in clinically significant pain scores. Men were more likely than women to have body mass index (BMI) >30 kg/m(2) (21% vs. 13%, p = 0.008). CONCLUSIONS: These results suggest that important gender differences exist in the prevalence of positive screenings for MST, depression, obesity, and PTSD. As the VA continues to review and improve its services for women veterans, clinicians, researchers, and senior leaders should consider innovative ways to ensure that female veterans receive the health services they need within the VA system.

Using VistA electronic medical record data extracts to calculate the waiting time for total knee arthroplasty.

This is a retrospective database study of veterans who had total knee arthroplasty (TKA) at Veterans Affairs Connecticut Healthcare System. The objective of this study is to determine if VistA medical records data can be used to create a methodology for accurate assessment of waiting times for TKAs performed at Veterans Affairs facilities. The average waiting period from date of "initial consult" to date TKA was performed was greater than two years. The average waiting period from "most recent consult" to TKA was less than a year. This new approach and methodology has great impact as it provides an electronic method for calculating the TKA wait time which is broadly generalizable for similar analysis at the VISN (Veteran Integrated Services Network) or regional level.

Association study of DTNBP1 with schizophrenia in a US sample.

BACKGROUND: Straub et al. (2002b) located a susceptibility region for schizophrenia at the DTNBP1 locus. At least 40 studies (including one study in US populations) attempted to replicate this original finding, but the reported findings are highly diverse and at least five pathways by which dysbindin protein might be involved in schizophrenia have been proposed. This study aimed to test the association in two common US populations by using powerful analytic methods. METHODS: Six markers at DTNBP1 were genotyped by mass spectroscopy ('MassARRAY' technique) in a sample of 663 individuals, including 346 healthy individuals European-Americans (EAs) and 48 African-Americans (AAs), and 317 individuals with schizophrenia (235 EAs and 82 AAs). Thirty-eight ancestry-informative markers were genotyped in this sample to infer the ancestry proportions. Diplotype, haplotype, genotype, and allele frequency distributions were compared between the cases and controls, controlling for possible population stratification, admixture, and sex-specific effects, and taking interaction effects into account, using a logistic regression analysis (an extended structured association method). RESULTS: Conventional case-control comparisons showed that genotypes of the markers P1578 (rs1018381) and P1583 (rs909706) were nominally associated with schizophrenia in EAs and in AAs, respectively. These associations became less or nonsignificant after controlling for population stratification and admixture effects (using structured association or regression analysis), and became nonsignificant after correction for multiple testing. However, regression analysis showed that the common diplotypes (ACCCTT/GCCGCC or GCCGCC/GCCGCC) and the interaction effects of haplotypes GCCGCC/GCCGCC significantly affected risk for schizophrenia in EAs, effects that were modified by sex. Fine-mapping using d or J statistics located the specific markers (d: P1328; J: P1333) closest to the putative risk sites in EAs. CONCLUSION: This study shows that DTNBP1 is a risk gene for schizophrenia in EAs. Variation at DTNBP1 may modify risk for schizophrenia in this population.

Development of an electronic medical record-based clinical decision support tool to improve HIV symptom management.

Common symptoms associated with HIV disease and its management are often underrecognized and undertreated. A clinical decision support tool for symptom management was developed within the Veterans Health Administration electronic medical record (EMR), aiming at increasing provider awareness of and response to common HIV symptoms. Its feasibility was studied in March to May 2007 by implementing it within a weekly HIV clinic, comparing a 4-week intervention period with a 4-week control period. Fifty-six patients and their providers participated in the study. Patients' perceptions of providers' awareness of their symptoms, proportion of progress notes mentioning any symptom(s) and proportion of care plans mentioning any symptom(s) were measured. The clinical decision support tool used portable electronic "tablets" to elicit symptom information at the time of check-in, filtered, and organized that information into a concise and clinically relevant EMR note available at the point of care, and facilitated clinical responses to that information. It appeared to be well accepted by patients and providers and did not substantially impact workflow. Although this pilot study was not powered to detect effectiveness, 25 (93%) patients in the intervention group reported that their providers were very aware of their symptoms versus 27 (75%) control patients (p = 0.07). The proportion of providers' notes listing symptoms was similar in both periods; however, there was a trend toward including a greater number of symptoms in intervention period progress notes. The symptom support tool seemed to be useful in clinical HIV care. The Veterans Health Administration EMR may be an effective "laboratory" for developing and testing decision supports.

Bupropion as a possible treatment option for restless legs syndrome.

OBJECTIVE: To describe a case of restless legs syndrome (RLS) successfully managed with bupropion. CASE SUMMARY: A 45-year-old female presented to a Veterans Affairs primary care clinic with a history of chronic insomnia. Her complicated history of treatment failure to sedative-hypnotic agents, continued sleep disturbances, and complaints of intolerable leg sensations fostered collaboration between a psychiatrist and pharmacist to identify effective treatment. Further review of her medical history and subjective complaints led to a diagnosis of RLS. Based on this new diagnosis, she was prescribed several Food and Drug Administration-approved and alternative agents recommended for the management of RLS. Unfortunately, each medication resulted in a variety of intolerable adverse effects, limiting the list of treatment options. Although not widely used for RLS, bupropion XL (Wellbutrin XL) 150 mg daily was initiated, resulting in resolution of RLS within 3 days. DISCUSSION: RLS can be an extremely disabling disorder and affects many people. For most patients, dopamine agonists are the treatment of choice for symptomatic relief. However, for patients unable to tolerate this drug class, small trials and case reports have identified alternative agents. This case supports findings from other cases suggesting a beneficial response with bupropion for the management of RLS. CONCLUSION: Bupropion may be a treatment option for patients who have RLS and are unable to tolerate dopamine agonists.

Comparison of two VA laboratory data repositories indicates that missing data vary despite originating from the same source.

BACKGROUND: Assessing accuracy and completeness of data is an important component of conducting research. VA Healthcare System benefits from a highly developed electronic medical information system. The Immunology Case Registry was designed to monitor costs and quality of HIV care. The Decision Support System was developed to monitor utilization and costs of veterans in care. Because these systems extract data from the same source using independent methods, they provide an opportunity to compare the accuracy and completeness of each. OBJECTIVE: To compare overlapping laboratory data from the Veterans Affairs Health Information System between 2 data repositories. RESEARCH DESIGN: For hemoglobin, CD4 lymphocyte counts (CD4), HIV RNA viral load, aspartate aminotransferase, alanine aminotransferase, glycosylated hemoglobin, creatinine, and white blood count, we calculated the percent of individuals with a value from each source. For results in both repositories, we calculated Pearson's correlation coefficients. SUBJECTS: A total of 22,647 HIV+ veterans in the Virtual Cohort with a visit in fiscal year 2002. RESULTS: For 6 out of 9 tests, 68% to 72% of the observations overlapped. For CD4, viral load, and glycosylated hemoglobin less than 31% of observations overlapped. Overlapping results were nearly perfectly correlated except for CD4. CONCLUSIONS: Six of the laboratory tests demonstrated remarkably similar amounts of overlap, though Immunology Case Registry and Decision Support System both have missing data. Findings indicate that validation of laboratory data should be conducted before its use in quality and efficiency projects. When 2 databases are not available for comparison, other methods of validation should be implemented.

Measuring performance directly using the veterans health administration electronic medical record: a comparison with external peer review.

BACKGROUND: Electronic medical records systems (EMR) contain many directly analyzable data fields that may reduce the need for extensive chart review, thus allowing for performance measures to be assessed on a larger proportion of patients in care. OBJECTIVE: This study sought to determine the extent to which selected chart review-based clinical performance measures could be accurately replicated using readily available and directly analyzable EMR data. METHODS: A cross-sectional study using full chart review results from the Veterans Health Administration's External Peer Review Program (EPRP) was merged to EMR data. RESULTS: Over 80% of the data on these selected measures found in chart review was available in a directly analyzable form in the EMR. The extent of missing EMR data varied by site of care (P<0.01). Among patients on whom both sources of data were available, we found a high degree of correlation between the 2 sources in the measures assessed (correlations of 0.89-0.98) and in the concordance between the measures using performance cut points (kappa: 0.86-0.99). Furthermore, there was little evidence of bias; the differences in values were not clinically meaningful (difference of 0.9 mg/dL for low-density lipoprotein cholesterol, 1.2 mm Hg for systolic blood pressure, 0.3 mm Hg for diastolic, and no difference for HgbA1c). CONCLUSIONS: Directly analyzable data fields in the EMR can accurately reproduce selected EPRP measures on most patients. We found no evidence of systematic differences in performance values among these with and without directly analyzable data in the EMR.

Home telehealth reduces healthcare costs.

The aim of this study was to determine whether home telehealth, when integrated with the health facility's electronic medical record system, reduces healthcare costs and improves quality-of-life outcomes relative to usual home healthcare services for elderly high resource users with complex co-morbidities. Study patients were identified through the medical center's database. Intervention patients received home telehealth units that used standard phone lines to communicate with the hospital. FDA-approved peripheral devices monitored vital signs and valid questionnaires were used to evaluate quality-of-life outcomes. Out-of-range data triggered electronic alerts to nurse case managers. (No live video or audio was incorporated in either direction.) Templated progress notes facilitated seamless data entry into the patient's electronic medical record. Participants (n = 104) with complex heart failure, chronic lung disease, and/or diabetes mellitus were randomly assigned to an intervention or control group for 6-12 months. Parametric and nonparametric analyses were performed to compare outcomes for (1) subjective and objective quality-of-life measures, (2) health resource use, and (3) costs. In contrast to the control group, scores for home telehealth subjects showed a statistically significant decrease at 6 months for bed-days-of-care (p < 0.0001), urgent clinic/emergency room visits (p = 0.023), and A1C levels (p < 0.0001); at 12 months for cognitive status (p < 0.028); and at 3 months for patient satisfaction (p < 0.001). Functional levels and patient-rated health status did not show a significant difference for either group. Integrating home telehealth with the healthcare institution's electronic database significantly reduces resource use and improves cognitive status, treatment compliance, and stability of chronic disease for homebound elderly with common complex co-morbidities.

CALCYON gene variation, schizophrenia, and cocaine dependence.

Calcyon is a brain-specific D1 dopamine receptor-interacting protein, with a potential role in D1-mediated physiological processes, including motor control, reward mechanisms, and cognitive processes. Our objective was to investigate the relationship between polymorphism of the CALCYON gene and (1) schizophrenia and (2) cocaine dependence in African-American (AA) and European-American (EA) subjects. Two single nucleotide polymorphisms (SNPs) at the CALCYON locus were genotyped in 70 AA and 206 EA individuals with schizophrenia and 90 AA and 118 EA individuals with cocaine dependence. The control group was comprised of 46 AA and 207 EA subjects screened to exclude those with psychiatric or substance use disorders. The specific polymorphisms studied were markers +295214G/A and +297151T/G. Comparisons of allele and haplotype frequencies between cases and controls were performed with the Fisher's Exact Test. Linkage disequilibrium (LD) between these two SNPs was calculated with the 3LOCUS program. No alleles or haplotypes were found to be associated with schizophrenia or cocaine dependence either in AA or EA subjects. The markers +295214G/A and +297151T/G are in the same haplotype block in all subgroups. Allele and haplotype frequencies differed significantly between EA and AA subjects. These results suggest that these two genetic variants in the CALCYON gene do not play a major role in predisposition to either schizophrenia or cocaine dependence in AA or EA subjects. Furthermore, these findings begin to establish a haplotype map for this gene in the AA and EA populations.

NOTCH4 gene haplotype is associated with schizophrenia in African Americans.

BACKGROUND: The goal of this study was to investigate the relationship between the NOTCH4 gene and schizophrenia in African American (AA) and European American (EA) subjects. METHODS: Two single nucleotide polymorphisms (SNPs) at the NOTCH4 locus were genotyped in 123 AA schizophrenia patients, 223 EA schizophrenia patients, 85 AA healthy control subjects, and 211 EA healthy control subjects. The specific markers studied were -1725T/G and -25T/C. Comparisons of allele and haplotype frequencies between patients and control subjects were performed with the chi-square test, the Fisher's Exact Test, and CLUMP software. Linkage disequilibrium (LD) between these two SNPs was calculated with the 3LOCUS program. RESULTS: The haplotype -1725G/-25T associates to schizophrenia in AA subjects (p =.0008), but not in EA subjects. Alleles -1725G and allele -25T are in positive LD both in AAs and EAs. Allele and haplotype frequencies differ significantly between AAs and EAs. CONCLUSIONS: The haplotype -1725G/-25T at the NOTCH4 locus, which results from SNPs of NOTCH4 that are in LD, may increase susceptibility to schizophrenia in AAs. Any effect of this locus on risk for schizophrenia is population-specific.

Integrating query of relational and textual data in clinical databases: a case study.

OBJECTIVES: The authors designed and implemented a clinical data mart composed of an integrated information retrieval (IR) and relational database management system (RDBMS). DESIGN: Using commodity software, which supports interactive, attribute-centric text and relational searches, the mart houses 2.8 million documents that span a five-year period and supports basic IR features such as Boolean searches, stemming, and proximity and fuzzy searching. MEASUREMENTS: Results are relevance-ranked using either "total documents per patient" or "report type weighting." RESULTS: Non-curated medical text has a significant degree of malformation with respect to spelling and punctuation, which creates difficulties for text indexing and searching. Presently, the IR facilities of RDBMS packages lack the features necessary to handle such malformed text adequately. CONCLUSION: A robust IR+RDBMS system can be developed, but it requires integrating RDBMSs with third-party IR software. RDBMS vendors need to make their IR offerings more accessible to non-programmers.