Dorman, Janice S.; Schmella, Mandy J.; Wesmiller, Susan W.
doi: 10.1177/1099800416678321pmid: 27895219
Precision medicine refers to the practice of determining a patient’s unique genetic, biomarker, and other characteristics for the purpose of improving his or her clinical outcomes. Not all patients with the same clinical diagnosis respond equally to identical treatment regimens. By examining patients at the molecular level, health-care providers will be better able to apply the most effective therapies that each individual requires. To understand precision medicine, nurses must have a solid understanding of genomics and proteomics. The purpose of this article is to (1) provide a historical review of what and how we have learned about the genome, particularly in the past century, (2) explain the processes whereby genetic information in cellular DNA is transcribed to messenger RNA and translated to protein, and (3) introduce genetic and epigenetic mechanisms that regulate gene expression.
Osier, Nicole D.; Imes, Christopher C.; Khalil, Heba; Zelazny, Jamie; Johansson, Ann E.; Conley, Yvette P.
doi: 10.1177/1099800416666716pmid: 27613438
Omics approaches, including genomics, transcriptomics, proteomics, epigenomics, microbiomics, and metabolomics, generate large data sets. Once they have been used to address initial study aims, these large data sets are extremely valuable to the greater research community for ancillary investigations. Repurposing available omics data sets provides data to address research questions, generate and test hypotheses, replicate findings, and conduct mega-analyses. Many well-characterized, longitudinal, epidemiological studies collected extensive phenotype data related to symptom occurrence and severity. While the main phenotype of interest for many of these studies was often not symptom related, these data were collected to better understand the primary phenotype of interest. A search for symptom data (i.e., cognitive impairment, fatigue, gastrointestinal distress/nausea, sleep, and pain) in the database of genotypes and phenotypes (dbGaP) revealed many studies that collected symptom and omics data. There is thus a real possibility for nurse scientists to be able to look at symptom data over time from thousands of individuals and use omics data to identify key biological underpinnings that account for the development and severity of symptoms without recruiting participants or generating any new data. The purpose of this article is to introduce the reader to resources that provide omics data to the research community for repurposing, provide guidance on using these databases, and encourage the use of these data to move symptom science forward.
Ruiz, R. Jeanne; Trzeciakowski, Jerome; Moore, Tiffany; Ayers, Kimberly S.; Pickler, Rita H.
doi: 10.1177/1099800416672005pmid: 27733476
Chronic stress may accelerate cellular aging. Telomeres, protective “caps” at the end of chromosomes, modulate cellular aging and may be good biomarkers for the effects of chronic stress, including that associated with acculturation. The purpose of this analysis was to examine telomere length (TL) in acculturating Hispanic Mexican American women and to determine the associations among TL, acculturation, and psychological factors. As part of a larger cross-sectional study of 516 pregnant Hispanic Mexican American women, we analyzed DNA in blood samples (N = 56) collected at 22–24 weeks gestation for TL as an exploratory measure using monochrome multiplex quantitative telomere polymerase chain reaction (PCR). We measured acculturation with the Acculturation Rating Scale for Mexican Americans, depression with the Beck Depression Inventory, discrimination with the Experiences of Discrimination Scale, and stress with the Perceived Stress Scale. TL was negatively moderately correlated with two variables of acculturation: Anglo orientation and greater acculturation-level scores. We combined these scores for a latent variable, acculturation, and we combined depression, stress, and discrimination scores in another latent variable, “negative affectivity.” Acculturation and negative affectivity were bidirectionally correlated. Acculturation significantly negatively predicted TL. Using structural equation modeling, we found the model had an excellent fit with the root mean square error of approximation estimate = .0001, comparative fit index = 1.0, Tucker–Lewis index = 1.0, and standardized root mean square residual = .05. The negative effects of acculturation on the health of Hispanic women have been previously demonstrated. Findings from this analysis suggest a link between acculturation and TL, which may indicate accelerated cellular aging associated with overall poor health outcomes.
Baumgartel, Kelley L.; Groer, Maureen W.; Cohen, Susan M.; Ren, Dianxu; Spatz, Diane L.; Conley, Yvette P.
doi: 10.1177/1099800416664585pmid: 27605567
Background:Maternal interleukin (IL) single nucleotide polymorphisms (SNPs) are associated with obstetrical outcomes. Conversely, infant SNPs are associated with subsequent neonatal intensive care unit (NICU) outcomes. Little is known about relationships between maternal SNPs and neonatal outcomes.Purpose:To examine the relationships between maternal IL genotypes and neonatal outcomes.Methods:An ancillary study was conducted among mothers (N = 63) who delivered very low-birth-weight infants (N = 74). Maternal DNA was extracted from breast milk and genotyped. Outcomes included fecal calprotectin, length of stay, scores for neonatal acute physiology with perinatal extension (SNAPPE-II), weight gain, oxygen needs, necrotizing enterocolitis, intraventricular hemorrhage, sepsis, retinopathy of prematurity, blood transfusions, and feeding intolerance. Multivariate analyses examined the relationships between maternal IL SNPs and outcomes, controlling for gestational age and the ratio of maternal milk to total milk.Results:Absence of a minor allele in 2 IL6 SNPs was associated with fecal calprotectin (p = .0222, p = .0429), length of stay (p = .0158), SNAPPE-II (p = .0497), weight gain (p = .0272), and days on oxygen (p = .0316). IL6 genotype GG (rs1800795) was associated with length of stay (p = .0034) and calprotectin (p = .0213). Minor-allele absence in 2 IL10 SNPs was associated with days on oxygen (p = .0320). There were associations between IL10 genotype TT (rs1800871) and calprotectin (p = .0270) and between IL10 genotypes AA (rs1800872 and rs1800896) and calprotectin (p = .0158, p = .0045).Conclusion:Maternal IL SNPs are associated with NICU outcomes. A potential clinical application includes an antenatal risk profile to identify neonatal needs.
Knobel-Dail, Robin B.; Tanaka, David T.; Holditch-Davis, Diane; White, John
doi: 10.1177/1099800416656914pmid: 27352610
Background:Our program of research focuses on thermal and circulatory stability in extremely premature infants. In prior studies, we found that infants have long periods of time in which foot temperature (FT) is higher than central temperature. We thus wanted to determine whether blood flow in the foot is increased when FT is elevated. Perfusion index (PI) can be used as a clinical indicator of peripheral perfusion, but reports on use of PI in premature infants are lacking. We employed exploratory methodology to examine foot perfusion and temperature in very low birth weight infants.Aims:For premature infants after birth: (1) describe foot PI values for the first 2 weeks of life and (2) describe the relationship of longitudinal FT and PI.Study Design:Case study design with longitudinal FT and PI in 17 infants born at <29 weeks’ gestation with birth weight < 1,200 g for 2 weeks after birth.Results:Infants averaged 851 g at birth and were 24–29 weeks’ gestational age. The mean PI across all infants for 14 days was 1.04, SD = 0.79. Using a repeated measures multilevel model approach confirmed that FT and PI were positively related in these infants.Conclusions:These findings demonstrate that perfusion is increased in the periphery in extremely premature infants when FT is increased. PI measures can be used as a trend for peripheral perfusion, and these values increase over the first 2 weeks of life in infants weighing more than 750 g.
Halloway, Shannon; Wilbur, JoEllen; Schoeny, Michael E.; Arfanakis, Konstantinos
doi: 10.1177/1099800416660758pmid: 27474154
Physical activity intervention studies that focus on improving cognitive function in older adults have increasingly used magnetic resonance imaging (MRI) measures in addition to neurocognitive measures to assess effects on the brain. The purpose of this systematic review was to identify the effects of endurance-focused physical activity randomized controlled trial (RCT) interventions on the brain as measured by MRI in community-dwelling middle-aged or older adults without cognitive impairment. Five electronic databases were searched. The final sample included six studies. None of the studies reported racial or ethnic characteristics of the participants. All studies included neurocognitive measures in addition to MRI. Five of the six interventions included laboratory-based treadmill or supervised bike exercise sessions, while one included community-based physical activity. Physical activity measures were limited to assessment of cardiorespiratory fitness and, in one study, pedometer. Due to the lack of adequate data reported, effect sizes were calculated for only one study for MRI measures and two studies for neurocognitive measures. Effect sizes ranged from d = .2 to .3 for MRI measures and .2 to .32 for neurocognitive measures. Findings of the individual studies suggest that MRI measures may be more sensitive to the effects of physical activity than neurocognitive measures. Future studies are needed that include diverse, community-based participants, direct measures of physical activity, and complete reporting of MRI and neurocognitive findings.
Williams, Susan G.; Turner-Henson, Anne; Davis, Sara; Soistmann, Heather C.
doi: 10.1177/1099800416656396pmid: 27358260
Adolescence is considered a critical period for risk of depressive symptoms, with prevalence ranging from 13% to 34%. Few studies have examined the relationships among perceived stress, bullying, and depressive symptoms accompanied by a biological marker of stress (cortisol). The purpose of this pilot study was to determine the feasibility of collecting biological specimens in a high school setting, including a morning and afternoon sample of salivary cortisol as well as computer-based survey data in order to examine the relationships among these variables in ninth-grade adolescents. A convenience sample of 31 ninth-grade students from a Southern suburban high school participated in this cross-sectional, correlational study. Perceived stress contributed the most toward the variance in depressive symptoms (F = 29.379, df = 1, p < .001, partial eta square [ηp2] = 0.583). Females (n = 15) had higher depressive symptoms scores than males, n = 16; t(29) = −2.94, df = 29, p = .023. Bullying scores were low and not significantly correlated with depressive symptoms, but participants reported more verbal/relational bullying as compared to physical, cultural, or cyberbullying. Cortisol slopes were normal (a negative change) for 20 participants (64.5%), while 4 (12.9%) had a blunted cortisol slope (less than .01 μg/dl change from morning to afternoon) and 7 (22.36%) had an opposite cortisol slope (morning low and afternoon high). Data collection procedures (salivary cortisol and computer-based surveys) were feasible in a school setting. High rates of perceived stress and depressive symptoms warrant a larger study in the future.
Conway, Aaron; Sheridan, Judith; Maddicks-Law, Joanne; Fulbrook, Paul; Ski, Chantal F.; Thompson, David R.; Clark, Robyn A.; Doering, Lynn V.
doi: 10.1177/1099800416666717pmid: 27581784
Characterizing how physical and psychological symptoms interact in heart transplant recipients may lead to advances in therapeutic options. This study examined associations between pain and major depression.Method:A cross-sectional study was conducted with adult heart transplant recipients. Pain was measured with the bodily pain domain of the Short Form-36 Health Survey and psychological distress with the Kessler Psychological Distress Scale (K-10). The Mini International Neuropsychiatric Interview, version 6.0, was used to identify participants meeting the criteria for major depression. Hierarchical linear regression was used to determine if there was an association between pain and major depression, controlling for pharmacological treatment of depression, severity of psychological distress, and clinical characteristics including immunosuppression medication which may induce pain as a side effect.Results:Average pain score of the 48 heart transplant recipients was 43 (SD ± 10, range 0–100, lower scores indicate worse pain), with moderate pain reported by 39% (n = 19). Major depression was associated with worse pain (R2 change = 36%, β = −16, 95% confidence interval [CI] = [−30, −4], p = .012). Pharmacological treatment for depression was associated with better pain scores (R2 change = 1.5%, β = 13, 95% CI [4, 23], p = .006).Conclusions:Heart transplant recipients with major depression had worse pain after controlling for pharmacological treatment of depression, severity of psychological distress, and clinical characteristics. Thus, it is imperative that clinicians devising a treatment regimen for pain in heart transplant recipients take into account co-occurring depression and vice versa.
Liu, Min-Hui; Wang, Chao-Hung; Chiou, Ai-Fu; Yang, Ning-I; Kuo, Li-Tang
doi: 10.1177/1099800416659743pmid: 27443525
Objective:This study investigated whether multidisciplinary disease management programs (MDPs) exert the same effects in heart failure (HF) patients across risk levels stratified by galectin-3 (Gal-3) level and what factors are associated with inadequate effectiveness of MDP.Methods:We used a longitudinal follow-up design based on a previous randomized trial. A total of 355 stabilized hospitalized HF patients were enrolled. The effects of MDP on death and HF-related rehospitalization were analyzed according to Gal-3 levels.Results:During the 4-year follow-up, Gal-3 levels predicted mortality and composite events (p < .001). Multivariable analysis demonstrated the event-lowering effect of MDP (hazard ratio [HR] = 0.49, p = .001 for death and HR = 0.50, p < .001 for composite events). However, the effect of MDP was inadequate for those with high Gal-3 levels (≥17.9 ng/ml), whose 4-year composite event rate was 43% in the MDP arm. Further analysis showed that, in patients with Gal-3 ≥ 17.9 ng/ml, the independent factors associated with a high composite event rate were no MDP, older age, worse New York Heart Association functional class, no angiotensin-converting enzyme inhibitor or angiotensin II receptor blocker use, higher predischarge natriuretic peptide levels, and wider QRS complexes.Conclusions:The effectiveness of MDP for HF patients at high risk was inadequate. Our findings identified the characteristics of these MDP nonresponders. Better integration of advanced care plans based on strategies guided by Gal-3 level is needed to improve care quality.
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