Quality of EHR data extractions for studies of preterm birth in a tertiary care center: guidelines for obtaining reliable data.

BACKGROUND: The use of Electronic Health Records (EHR) has increased significantly in the past 15 years. This study compares electronic vs. manual data abstractions from an EHR for accuracy. While the dataset is limited to preterm birth data, our work is generally applicable. We enumerate challenges to reliable extraction, and state guidelines to maximize reliability. METHODS: An Epic™ EHR data extraction of structured data values from 1,772 neonatal records born between the years 2001-2011 was performed. The data were directly compared to a manually-abstracted database. Specific data values important to studies of perinatology were chosen to compare discrepancies between the two databases. RESULTS: Discrepancy rates between the EHR extraction and the manual database were calculated for gestational age in weeks (2.6 %), birthweight (9.7 %), first white blood cell count (3.2 %), initial hemoglobin (11.9 %), peak total and direct bilirubin (11.4 % and 4.9 %), and patent ductus arteriosus (PDA) diagnosis (12.8 %). Using the discrepancies, errors were quantified in both datasets using chart review. The EHR extraction errors were significantly fewer than manual abstraction errors for PDA and laboratory values excluding neonates transferred from outside hospitals, but significantly greater for birth weight. Reasons for the observed errors are discussed. CONCLUSIONS: We show that an EHR not modified specifically for research purposes had discrepancy ranges comparable to a manually created database. We offer guidelines to minimize EHR extraction errors in future study designs. As EHRs become more research-friendly, electronic chart extractions should be more efficient and have lower error rates compared to manual abstractions.

Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study.

BACKGROUND: Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated with PTB in oxytocin pathway genes whose role in parturition is well known. METHODS: To identify common genetic variants predisposing to PTB, we genotyped 16 single nucleotide polymorphisms (SNPs) in the oxytocin (OXT), oxytocin receptor (OXTR), and leucyl/cystinyl aminopeptidase (LNPEP) genes in 651 case infants from the U.S. and one or both of their parents. In addition, we examined the role of rare genetic variation in susceptibility to PTB by conducting direct sequence analysis of OXTR in 1394 cases and 1112 controls from the U.S., Argentina, Denmark, and Finland. This study was further extended to maternal triads (maternal grandparents-mother of a case infant, N=309). We also performed in vitro analysis of selected rare OXTR missense variants to evaluate their functional importance. RESULTS: Maternal genetic effect analysis of the SNP genotype data revealed four SNPs in LNPEP that show significant association with prematurity. In our case-control sequence analysis, we detected fourteen coding variants in exon 3 of OXTR, all but four of which were found in cases only. Of the fourteen variants, three were previously unreported novel rare variants. When the sequence data from the maternal triads were analyzed using the transmission disequilibrium test, two common missense SNPs (rs4686302 and rs237902) in OXTR showed suggestive association for three gestational age subgroups. In vitro functional assays showed a significant difference in ligand binding between wild-type and two mutant receptors. CONCLUSIONS: Our study suggests an association between maternal common polymorphisms in LNPEP and susceptibility to PTB. Maternal OXTR missense SNPs rs4686302 and rs237902 may have gestational age-dependent effects on prematurity. Most of the OXTR rare variants identified do not appear to significantly contribute to the risk of PTB, but those shown to affect receptor function in our in vitro study warrant further investigation. Future studies with larger sample sizes are needed to confirm the findings of this study.

Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn.

INTRODUCTION: Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension. RESULTS: PPHN was significantly (P < 0.05) associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1, CRHR1 and CRH-binding protein, CRHBP. Association with CRHR1 rs4458044 passed the Bonferroni threshold for significance. No mutations were found in the bone morphogenetic protein receptor type II (BMPR2) gene. DISCUSSION: We describe previously unreported genetic associations between PPHN and CRHR1 and CRHBP. These findings may have implications for further understanding the pathophysiology of PPHN and treatment. METHODS: We performed a family-based candidate gene study to examine a genetic association with PPHN and sequenced the BMPR2 gene in 72 individuals. We enrolled 110 families with infants diagnosed with PPHN based on inclusion criteria. After medical chart review, 22 subjects were excluded based on predefined criteria, and DNA samples from 88 affected infants and at least one parent per infant were collected and genotyped. Thirty-two single-nucleotide polymorphisms in 12 genes involved in vasoconstriction/vasodilation, lung development, surfactant regulation, or vascular endothelial cell function were investigated using family-based association tests.

Everyday ethics in internal medicine resident clinic: an opportunity to teach.

OBJECTIVES: Being a good doctor requires competency in ethics. Accordingly, ethics education during residency training is important. We studied the everyday ethics-related issues (i.e. ordinary ethics issues commonly faced) that internal medical residents encounter in their out-patient clinic and determined whether teaching about these issues occurred during faculty preceptor-resident interactions. METHODS: This study involved a multi-method qualitative research design combining observation of preceptor-resident discussions with preceptor interviews. The study was conducted in two different internal medicine training programme clinics over a 2-week period in June 2007. Fifty-three residents and 19 preceptors were observed, and 10 preceptors were interviewed. Transcripts of observer field notes and faculty interviews were carefully analysed. The analysis identified several themes of everyday ethics issues and determined whether preceptors identified and taught about these issues. RESULTS: Everyday ethics content was considered present in 109 (81%) of the 135 observed case presentations. Three major thematic domains and associated sub-themes related to everyday ethics issues were identified, concerning: (i) the Doctor-Patient Interaction (relationships; communication; shared decision making); (ii) the Resident as Learner (developmental issues; challenges and conflicts associated with training; relationships with colleagues and mentors; interactions with the preceptor), and; (iii) the Doctor-System Interaction (financial issues; doctor-system issues; external influences; doctor frustration related to system issues). Everyday ethics issues were explicitly identified by preceptors (without teaching) in 18 of 109 cases (17%); explicit identification and teaching occurred in only 13 cases (12%). CONCLUSIONS: In this study a variety of everyday ethics issues were frequently encountered as residents cared for patients. Yet, faculty preceptors infrequently explicitly identified or taught these issues during their interactions with residents. Ethics education is important and residents may regard teaching about the ethics-related issues they actually encounter to be highly relevant. A better understanding of the barriers to teaching is needed in order to promote education about everyday ethics in the out-patient setting.

Transitioning to breast cancer survivorship: perspectives of patients, cancer specialists, and primary care providers.

BACKGROUND: Limited research exists regarding views of patients, oncology specialists, and primary care providers (PCPs) concerning breast cancer survivorship care. OBJECTIVE: To qualitatively explore the needs and priorities of breast cancer survivors, oncology specialists, and PCPs. METHODS: Focus groups were conducted of survivors (21 in 5 groups), PCPs (15 in 2 groups), and oncology specialists (16 in 2 groups). One survivor group consisted of four African-Americans. Discussions used a semi-structured guide, were transcribed verbatim, and were analyzed qualitatively. Groups explored transitions to follow-up, communication, patient needs, and provider roles. RESULTS: Survivors form intense relationships with specialists for reassurance and expertise. Many believed PCPs lacked necessary oncology expertise. Survivors reported psychosocial and communication issues. African-Americans cited concerns about access to care and clinical trials, as well as taboos to discussing cancer. Specialists reported that they struggle with discharging survivors due to protective relationships. PCPs were concerned about time and training to provide survivorship care and communication problems with oncologists. Written survivorship care plans were regarded by all groups as possibly helpful, but insufficient to ease the transition. CONCLUSIONS: Breast cancer patients may experience difficulties transitioning to survivorship, including ongoing psychosocial issues. African-American patients may face additional and unique barriers to successful survivorship. Oncology specialists may have concerns about discharging cherished patients. These findings suggest a psychological component that may influence the use of written survivorship care plans. PCPs may need additional training and greater access to specialists in order to care for survivors.

Teaching ethics to paediatrics residents: the centrality of the therapeutic alliance.

CONTEXT: Previous research on ethical issues encountered by medical professionals in training and practice have presented the thematic content of the cases they encounter rather than the activities in which clinicians engage and in which they most often encounter ethical issues. We conducted a direct observation study of paediatrics residents and their preceptors seeing patients in an out-patient general paediatrics clinic. Our objectives were to describe the everyday ethics-related issues paediatrics residents encounter as they interact with patients. Our ultimate goal is to use this knowledge to enhance current efforts to teach ethics to paediatrics residents. METHODS: The study team directly observed paediatrics residents discussing patients with their faculty preceptors (19 half-day sessions, 76 hours) in an out-patient general paediatrics clinic located in an urban academic medical centre. Each interaction between resident and preceptor about a single patient was considered a case for further analysis. RESULTS: A total of 247 cases were recorded. Forty-one of the cases were coded as having ethics-related content. A constant comparative method of qualitative data analysis revealed that residents were most likely to encounter ethical issues when engaged in the following activities: (i) maintaining a therapeutic alliance with the caregiver (e.g. the parent); (ii) prioritising patient or family needs; (iii) adjusting to the power embodied by the role of doctors, and (iv) distinguishing suboptimal care from abuse or neglect. In addition, our findings indicate that it is through their efforts to maintain the therapeutic alliance with the caregivers of their patients that residents engage in and integrate three processes: developing their medical knowledge; adhering to professional norms, and balancing the power inherent in the doctor's role with their responsibility to serve the patient's interests. CONCLUSIONS: Medical faculty tasked with teaching ethics to paediatrics residents can utilise the results of this project to better target and enhance their ethics education efforts directed at residents in the out-patient setting. Future research could further examine and test these findings in other clinical settings (e.g. adult general medicine).

Determining the prevalence of cytomegalovirus infection in a cohort of preterm infants.

BACKGROUND: Preterm birth is a global public health problem that is a significant cause of infant morbidity and mortality. Congenital cytomegalovirus (CMV) infection has been proposed as a risk factor for preterm birth, but the rate of CMV in infants born preterm is unclear. CMV is the leading infectious cause of sensorineural hearing loss, which will affect 15% - 20% of congenitally infected infants later in their childhood. 90% of infected infants are asymptomatic at birth and are not recognized as at risk for CMV-associated deficits. OBJECTIVE: To determine the prevalence of CMV infection in a large cohort of preterm infants. METHODS: DNA was extracted from cord blood, peripheral blood, saliva, and buccal swab samples collected from preterm infants. A total of 1200 unique DNA samples were tested for CMV using a nested PCR protocol. The proportions of preterm infants with CMV was compared by sample collection type, race, gender, and gestational age. RESULTS: A total of 37 infants tested positive for CMV (3.08%). After excluding twins, siblings, and infants older than two weeks at the time of sample collection, two out of 589 infants were CMV positive (0.3%), which was lower than the proportion of CMV observed in the general population. All positive samples came from buccal swabs. CONCLUSIONS: Our work suggests that while CMV infection may not be greater in preterm infants than in the general population, given the neurologic consequences of CMV in preterm infants, screening of this population may still be warranted. If so, our results suggest buccal swabs, collected at pregnancy or at birth, may be an ideal method for such a program.

Analyzing reflective narratives to assess the ethical reasoning of pediatric residents.

A limiting factor in ethics education in medical training has been difficulty in assessing competence in ethics. This study was conducted to test the concept that content analysis of pediatric residents' personal reflections about ethics experiences can identify changes in ethical sensitivity and reasoning over time. Analysis of written narratives focused on two of our ethics curriculum's goals: 1) To raise sensitivity to ethical issues in everyday clinical practice and 2) to enhance critical reflection on personal and professional values as they affect patient care. Content analysis of written reflections was guided by a tool developed to identify and assess the level of ethical reasoning in eight domains determined to be important aspects of ethical competence. Based on the assessment of narratives written at two times (12 to 16 months/apart) during their training, residents showed significant progress in two specific domains: use of professional values, and use of personal values. Residents did not show decline in ethical reasoning in any domain. This study demonstrates that content analysis of personal narratives may provide a useful method for assessment of developing ethical sensitivity and reasoning.

Everyday ethics issues in the outpatient clinical practice of pediatric residents.

OBJECTIVE: To describe the ethics issues that pediatric residents encounter during routine care in an outpatient teaching clinic. DESIGN: Qualitative study including in-depth interviews with pediatric residents and direct observation of interactions between preceptors and residents in a pediatric teaching clinic. SETTING: The Johns Hopkins Harriet Lane Pediatric Primary Care Clinic, March 20 through April 11, 2006. PARTICIPANTS: A convenience sample including all pediatric faculty preceptors supervising at the clinic during the 19 half-day sessions that occurred during the observation period (N = 15) and the pediatric residents seeing patients during these clinic sessions (N = 50). Main Outcome Measure Field notes of preceptor-resident discussions about patient care were made and transcribed for qualitative analysis. RESULTS: Qualitative analysis of the ethics content of cases presented by residents in this pediatric teaching clinic identified 5 themes for categorizing ethics challenges: (1) promoting the child's best interests in complex and resource-poor home and social settings; (2) managing the therapeutic alliance with parents and caregivers; (3) protecting patient privacy and confidentiality; (4) balancing the dual roles of learner and health care provider; and (5) using professional authority appropriately. CONCLUSIONS: Qualitative analysis of the ethics content of directly observed preceptor-resident case discussions yielded a set of themes describing the ethics challenges facing pediatric residents. The themes are somewhat different from the lists of residents' ethics experiences developed using recall or survey methods and may be very different from the ideas usually included in hospital-based ethics discussions. This may have implications for improving ethics education during residency training.