Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.

MOTIVATION: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure. RESULTS: Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research. AVAILABILITY AND IMPLEMENTATION: phecodeX is available at https://github.com/PheWAS/phecodeX.

Bronchopulmonary dysplasia is associated with polyhydramnios in a scan for novel perinatal risk factors.

BACKGROUND: The pathogenesis of bronchopulmonary dysplasia (BPD) is multifactorial, and there are limited data about prenatal exposures and risk of BPD. STUDY DESIGN: Our study performed parallel analyses using a logistic regression model in a cohort of 4527 infants with data from a curated registry and using a phenome wide association study (PheWAS) based on ICD9/10-based phecodes. We examined 20 prenatal exposures from a neonatal intensive care unit (NICU) curated registry database related to pregnancy and maternal health as well as 94 maternal diagnosis phecodes with a PheWAS analysis. RESULT: In both the curated registry and PheWAS analyses, polyhydramnios was associated with an increased risk of BPD (OR 5.70, 95% CI 2.78-11.44, p = 1.37 × 10-6). CONCLUSION: Our data suggest that polyhydramnios may be a clinical indicator of premature infants at increased risk for bronchopulmonary dysplasia. Combining curated registry data with PheWAS analysis creates a valuable tool to generate hypotheses. IMPACT: Polyhydramnios was significantly associated with bronchopulmonary dysplasia in both a curated registry and by ICD coding analysis with a phenome wide association study (PheWAS). Preterm polyhydramnios may be a clinical indicator of infants at increased risk for developing bronchopulmonary dysplasia after preterm birth. Combining curated registry with PheWAS analysis creates a valuable tool to generate hypotheses about perinatal risk factors and morbidities associated with preterm birth.

Diagnosis of an Umbilical Vein Aneurysm at 30 Weeks Gestation.

BACKGROUND: Fetal umbilical vein aneurysm is an uncommon anomaly without clear guidelines regarding the management of these pregnancies. Case Presentation. We describe an ultrasound diagnosis of this condition involving a 38-year-old multigravid woman who presented at 30 weeks and 3 days gestation with severe fetal growth restriction, reverse end-diastolic flow on umbilical artery dopplers, elevated ductus venosus doppler, and an umbilical vein aneurysm. Due to nonreassuring fetal assessment in the setting of an umbilical vein aneurysm, she underwent a cesarean delivery with a favorable neonatal outcome. CONCLUSIONS: There are currently no guidelines for the management of an umbilical vein aneurysm. This case demonstrates a successful multidisciplinary approach for creating a plan of care focused on achieving a favorable outcome for a fetus with a large umbilical vein aneurysm. The approach took into account timing of delivery given the potential for fetal morbidity and mortality, while factoring in the risk of prematurity.

The impact of telemedicine on the quality of newborn resuscitation: A retrospective study.

OBJECTIVE: We hypothesized that telemedicine consults provided by neonatologists to local care teams (termed teleneonatology) would improve the quality of high-risk newborn resuscitations that occur in community hospitals. METHODS: This retrospective cohort study compared 47 newborns who received a teleneonatology consult during their resuscitation at a community hospital to 45 controls who did not. Controls were matched on gestational age, sex, admission diagnosis, and level of newborn care. A two-person expert panel blinded to the intervention reviewed demographic and resuscitation data for each patient and assigned a resuscitation quality rating using a 1-10 descriptive rating scale. Paired comparisons between groups were evaluated using the Wilcoxon signed rank test for continuous measures and the McNemar's test for dichotomous measures. RESULTS: The median resuscitation quality rating was 7 for the teleneonatology group and 4 for the control group, with a median difference of 1 between matched pairs (P = .002). Neonates who received a teleneonatology consult were more likely to undergo measurement of temperature, glucose, and blood gases. When analyzing the 35 matched pairs that had a consult within one hour of birth, the positive impact of teleneonatology was greater (median rating 8 vs 4, median difference 2, P = .003). Subgroup analysis demonstrated teleneonatology significantly improved the resuscitation of preterm neonates (median rating 8 vs 4, median difference 1.5, P = .004) CONCLUSION: Teleneonatology improves the quality of high-risk newborn resuscitations that occur in community hospitals and increases adherence to process metrics. Earlier teleneonatology consults appear to have greater positive impact.

Impact of Asthma on the Association between Childhood Obesity and Influenza.

BACKGROUND: Despite long-standing recommendations for influenza vaccine in patients with asthma, whether asthma is a risk factor for medically-attended influenza is unclear. Obesity has more recently been found to be a risk factor for severe influenza in adults. Its role in children is less certain. MATERIALS AND METHODS: We conducted a 1:1 matched case-control study of all 185 children 2 to 18 years old with PCR-confirmed influenza at our institution from 2010 to 2013. RESULTS: Having a prior history of asthma was 2 times more common (95% CI, 1.24-3.23) among the influenza cases than the controls. Obesity was not associated with influenza overall (OR 0.94, 95% CI 0.49-1.83). However, among patients with asthma, influenza cases were 4.4 times more likely to be obese compared with subjects without influenza (95% CI, 0.93-20.58). CONCLUSION: In our population, a prior diagnosis of asthma was associated with a two-fold increased risk of medically-attended influenza. In addition, among patients with asthma there was a trend toward obesity increasing the risk of influenza.

The Ontogenetically Variable Trophic Niche of a Praying Mantid Revealed by Stable Isotope Analysis.

Praying mantids have been shown to exert strong influences on arthropod community composition. However, they may not occupy the same trophic level throughout their lives. Trophic shifting over a life cycle could explain the documented variation in results from field studies, but specific interactions of predators within food webs have been difficult to determine simply by comparing control and treatment assemblages in field experiments. We examined the trophic position of the Chinese praying mantid, Tenodera aridifolia sinensis (Saussure), using stable isotope analysis (SIA). We measured the δ(13)C and δ(15)N of field-collected arthropods, and of laboratory groups of mantids fed known diets of these arthropods chosen from the most abundant trophic guilds: herbivores (sap feeders and plant chewers), and carnivores. We also collected mantids from the field over a growing season and compared their SIA values to those of the laboratory groups. Both δ(13)C and δ(15)N of mantids fed carnivorous prey (spiders or other mantids) were higher than those fed herbivores (grasshoppers). SIA values from field-collected mantids were highly variable, and indicated that they did not take prey from trophic guilds in proportion to their abundances, i.e., were not frequency-dependent predators. Further, δ(15)N decreased from a high at egg hatch to a low at the third instar as early nymphs fed mainly on lower trophic levels, and increased steadily thereafter as they shifted to feeding on higher levels. We suggest that the community impact of generalist predators can be strongly influenced by ontogenetic shifts in diet.

A contrast between children and adolescents with excellent and poor control: the T1D Exchange clinic registry experience.

OBJECTIVES: Optimizing glycemic control in pediatric type 1 diabetes (T1D) is essential to minimizing long-term risk of complications. We used the T1D Exchange database from 58 US diabetes clinics to identify differences in diabetes management characteristics among children categorized as having excellent vs. poor glycemic control. METHODS: Among registry participants 6-17 yr old with diabetes duration ≥ 2 yr, those with excellent control [(A1c <7%)(53 mmol/mol) (N = 588)] were compared with those with poor control [(A1c ≥ 9% )(75 mmol/mol) (N = 2684)] using logistic regression. RESULTS: The excellent and poor control groups differed substantially in diabetes management (p < 0.001 for all) with more of the excellent control group using insulin pumps, performing blood glucose monitoring ≥ 5 ×/d, missing fewer boluses, bolusing before meals rather than at the time of or after a meal, using meal-specific insulin:carbohydrate ratios, checking their blood glucose prior to giving meal time insulin, giving insulin for daytime snacks, giving more bolus insulin, and using a lower mean total daily insulin dose than those in poor control. After adjusting for demographic and socioeconomic factors, diabetes management characteristics were still strongly associated with good vs. poor control. Notably, frequency of severe hypoglycemia was similar between the groups while DKA was more common in the poorly controlled group. CONCLUSIONS: Children with excellent glycemic control tend to exhibit markedly different diabetes self-management techniques than those with poor control. This knowledge may further inform diabetes care providers and patients about specific characteristics and behaviors that can be augmented to potentially improve glycemic control.

Survivor identity and post-traumatic growth after participating in challenge-based peer-support programmes.

OBJECTIVES: The social construction of breast cancer (BC) survivor identity has produced a powerful image of woman as survivor. Group membership through peer-support programmes can provide positive role models, shape survivor identity and promote post-traumatic growth (PTG). The main objective of this study was to conduct a qualitative investigation based on a phenomenological framework in order to understand the lived experience of BC survivors participating in a peer-support programme based on a challenge event. DESIGN: This is a qualitative semi-structured and written narrative study. Interviews were subjected to interpretative phenomenological analysis and the written narratives via thematic analysis. METHOD: Interviews were conducted with 27 participants who were new to the peer-support event for women diagnosed with BC, and 10 participants who had taken part in multiple events provided written narratives of their experience. Interviews and surveys were completed pre- and post-event. RESULTS: Important elements of the peer-support environment included a safe network of other survivors, which provided understanding and acceptance. Overcoming challenges during the event and the opportunity to bond with positive role models affirmed a strong survivor identity and promoted PTG. For some participants, a shift in identity was evident with a newfound positive identification with the term BC survivor. CONCLUSIONS: Peer-support programmes based on challenge events have the potential to extend the type of supportive care that is available for women diagnosed with BC by providing an alternative to the traditional support group format.

Amazon heart: an exploration of the role of challenge events in personal growth after breast cancer.

High-profile events where in response to the experience of breast cancer women take on adventure activities to raise awareness and/or funds for breast cancer are increasing. These activities offer physical and psychological challenges within a peer support group setting. We investigated the experiences of 21 breast cancer survivors who participated in a 7-day breast cancer awareness motorcycle ride. Assessments included a qualitative pre/postinterview, solicited diary, pre-6-month follow-up survey. Measures included satisfaction with life, distress, happiness, global well being, meaning in life. Motivators were a desire for peer support, to promote breast cancer awareness, enjoyment, and personal growth. The ride incorporated physical and emotional challenge. A positive peer support experience led to feelings of inner peace, accomplishment, self-learning, a positive perspective, and improved social support. For a minority of women peer support or recreational expectations were not met resulting in negative feelings. No significant changes were observed over time in adjustment measures. Adventure events where women undertake emotional and physical challenge in an environment of group peer support provide opportunity for personal growth. In this context, peer support may provide the catalyst for the experience to become transformational and so is critical to generating positive outcomes. Realistic expectations of the ride are also influential.

Use of the SF36 general health status survey to document health-related quality of life in patients with coronary artery disease: effect of disease and response to coronary artery bypass graft surgery.

OBJECTIVE: The purpose of this study was to determine if the SF36 general health status survey has the sensitivity to detect physical function impairments before surgery and the expected improvement in health-related quality of life variables after elective coronary artery bypass graft (CABG) surgery. DESIGN: A prospective, nonrandomized study design was used. OUTCOME MEASURES: The SF36 general health status survey comprises 36 multiple choice questions sorted into 8 categories, or subscales, that describe overall health status. The scores of this survey were used to measure the outcome. INTERVENTION: The SF36 was administered before surgery and at 12-month follow-up. Patients were also queried about the occurrence of angina with normal activities of daily living. RESULTS: Before surgery (n = 81), scores for all SF36 subscales (with the exception of mental health) were lower than published normative data, indicating the disease burden of coronary artery disease. At 12-month follow-up, scores in 6 of 8 subscales improved significantly; general health and role-emotional scores did not change. These changes in SF36 scores at follow-up paralleled a decreased occurrence of angina; before CABG surgery, 75% of patients (61 of 81) had angina; at 12-month follow-up, only 3.7% of patients (3 of 81) had angina. CONCLUSIONS: The SF36 can be used effectively to document changes in health-related quality of life variables in patients with coronary artery disease after CABG surgery.

The SF-36 general health status survey documents the burden of osteoarthritis and the benefits of total joint arthroplasty: but why should we use it?

OBJECTIVES: To document the disease burden of osteoarthritis and the benefits of total joint replacement by using the Short Form Health Survey (SF-36) general health status survey and evaluate other factors that could affect scores. STUDY DESIGN: Prospective study. PATIENTS AND METHODS: All patients scheduled for primary total hip arthroplasty (THA) or total knee arthroplasty (TKA) (n = 622 preoperatively) in 2 years were surveyed using the SF-36, which assesses health-related quality of life (HRQOL) in patients' physical and social functioning and mental health. Follow-up surveys were administered 12 months after surgery to all patients and 3 and 24 months after surgery to a subset of patients. RESULTS: Preoperatively, patient scores were significantly lower than normative scores in the physical functioning, bodily pain, and social functioning domains. Preoperative scores were not different between THA and TKA patients. Women scored lower than men. Comorbid conditions were weakly associated with low SF-36 scores. Postoperatively, the largest incremental improvement in scores was seen at 3-month follow-up. Scores improved sooner and more substantially in THA vs TKA patients and in men vs women, paralleling improvement in clinical and subjective ratings of postoperative physical function and pain. CONCLUSIONS: The SF-36 has the sensitivity to document improvement in HRQOL after surgery and to reveal differences in THA vs TKA and in men vs women. However, routine use of outcome assessment instruments to monitor this patient population is costly and unjustified in our current healthcare environment.