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Sample records for persons undergoing genetic

  1. The Genetics of Personality.

    ERIC Educational Resources Information Center

    Holden, Constance

    1987-01-01

    Reports on the findings of several studies into the genetic similarities of twins. Focuses on the relationships between personality and behavioral genetics and argues that genetic similarity seems to be a better predictor than environmental factors. Discusses psychopathology, cognitive abilities, and personality. (TW)

  2. Anxiety and personality characteristics in children undergoing dental interventions.

    PubMed

    Pop-Jordanova, Nada; Sarakinova, Olivera; Markovska-Simoska, Silvana; Loleska, Sofija

    2013-01-01

    Anxiety about and fear of dental treatment have been recognized as sources of problems in the management of child dental patients. It has been suggested that some individuals who are fearful of or anxious about dental treatment have a constitutional vulnerability to anxiety disorders as is evidenced by the presence of multiple fears, generalized anxiety or panic disorders. Concerning the child population, maternal anxiety is considered to be a major factor affecting the behaviour of young children expecting dental intervention. The aim of the study was to the measure general anxiety of children undergoing dental intervention and to compare it with some personality characteristics, such as psychopathology, extroversion and neuroticism. The evaluated sample comprises 50 children (31 girls and 19 boys), randomly selected at the University Dental Hospital, Skopje. The mean age for girls was 11.4 (± 2.4) years, and for boys 10.7 (± 2.6) years. Two psychometric instruments were used: the General Anxiety Scale for Children (GASC) and the Eysenck Personality Questionnaire (EPQ). The study confirms the presence of a high anxiety level (evaluated with GASC) among all children undergoing dental intervention. It also confirmed differences in anxiety scores between girls and boys, girls having higher scores for anxiety. Personality characteristics (evaluated with EPQ) showed low psychopathological traits, moderate extroversion and neuroticism, but accentuated insincerity (evaluated with L scale). L scales are lower with increasing age, but P scores rise with age, which could be related to puberty. No correlation was found between personality traits (obtained scores for EPQ) and anxiety except for neuroticism, which is positively correlated with the level of anxiety. In the management of dental anxiety some response measures (psychological support, biofeedback, and relaxation techniques) are recommended. PMID:24566020

  3. Genetic Polymorphisms Influence Cognition in Patients Undergoing Carotid Interventions.

    PubMed

    Hitchner, Elizabeth; Morrison, Doug; Liao, Phoebe; Rosen, Allyson; Zhou, Wei

    2016-09-01

    While carotid interventions help decrease the risk of stroke, nearly 40% of patients experience cognitive deterioration. Genetic polymorphism in apolipoprotein E (ApoE) and brain-derived neurotrophic factor (BDNF) have been implicated in cognitive impairment; however, it is unclear whether they may influence cognitive changes in patients undergoing carotid intervention. In this study, we seek to assess the role of genetic polymorphisms in carotid intervention-related cognitive change. Polymorphisms related to cognitive function were chosen for this preliminary analysis. Over 2 years, patients undergoing carotid interventions were prospectively recruited. Patients underwent neuropsychological testing 2 weeks prior to and at 1 month following their procedure. Saliva samples were collected for genetic analysis. Logistic regressions were used to identify associations between polymorphisms and cognitive measures. A total of 91 patients were included; all were male with an average age of 70 years. The majority of patients exhibited hypertension (95%) and a history of smoking (81%). Presence of ApoE 4 allele was associated with depression (p= 0.047). After correcting for age and genetic polymorphisms in BDNF and serotonin transporter (5-HTT), ApoE 4 allele was associated with depression (p= 0.044) and showed a trend with baseline cognitive impairment (p= 0.10). Age ≥ 70 years was associated with baseline cognitive impairment after adjusting for the three genetic polymorphisms (p= 0.03). Patients with ApoE 4 and BDNF A polymorphisms performed less well on the visual and verbal memory measures, respectively. Polymorphisms in ApoE and BDNF may provide insight on cognition in patients undergoing carotid interventions; however, the mechanism of this relationship remains unclear. PMID:27574384

  4. Personalized Cancer Genetics Training for Personalized Medicine

    PubMed Central

    Blazer, Kathleen R.; MacDonald, Deborah J.; Culver, Julie O.; Huizenga, Carin R.; Morgan, Robert J.; Uman, Gwen C.; Weitzel, Jeffrey N.

    2012-01-01

    Purpose To assess the impact of a multi-modal interdisciplinary course in genetic cancer risk assessment (GCRA) and research collaboration for community-based clinicians. Clinicians are increasingly requested to conduct GCRA, but many are inadequately prepared to provide these services. Methods A prospective analysis of 131 participants (48 physicians, 41 advanced-practice nurses and 42 genetic counselors) from community settings across the U.S. The course was delivered in three phases: distance didactic learning, face-to-face training and 12 months of Web-based professional development activities to support integration of skills into practice. Cancer genetics knowledge, skills, professional self-efficacy and practice changes were measured at baseline, immediate- and 14-months-post course. Results Knowledge, skills and self-efficacy scores were significantly different between practice disciplines; however, post scores increased significantly overall and for each discipline (p<.001). Fourteen-month practice outcomes reflect significant increases in provision of GCRA services (p=.018), dissemination of cancer prevention information (p=.005) and high-risk screening recommendations (p=.004) to patients, patient enrollment in research (p=.013), and educational outreach about GCRA (p=.003). Conclusions Results support the efficacy of the multi-modal course as a tool to develop a genetically literate workforce. Sustained alumni participation in Web-based professional development activities has evolved into a distance-mediated Community of Practice in clinical cancer genetics, modeling the lifelong learning goals envisioned by leading CME stakeholders. PMID:21629123

  5. Personalized medicine and human genetic diversity.

    PubMed

    Lu, Yi-Fan; Goldstein, David B; Angrist, Misha; Cavalleri, Gianpiero

    2014-09-01

    Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. PMID:25059740

  6. Personalized Medicine and Human Genetic Diversity

    PubMed Central

    Lu, Yi-Fan; Goldstein, David B.; Angrist, Misha; Cavalleri, Gianpiero

    2014-01-01

    Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay–Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. PMID:25059740

  7. [The diet of the elderly person undergoing dialysis].

    PubMed

    Gourc, Christophe; Ramade, Nathalie

    2016-01-01

    The elderly patient undergoing dialysis is often at risk of undernutrition. The condition may already be present at the pre-dialysis stage and can worsen once dialysis starts. Aside from the impact on the patient's quality of life and general health status, undernutrition exposes them to serious risk of complications and can be life-threatening. It is therefore essential that it is diagnosed early. PMID:26805644

  8. Genetic variation in personality traits explains genetic overlap between borderline personality features and substance use disorders

    PubMed Central

    Few, Lauren R.; Grant, Julia D; Trull, Timothy J.; Statham, Dixie J.; Martin, Nicholas G.; Lynskey, Michael T.; Agrawal, Arpana

    2014-01-01

    Aims To examine the genetic overlap between borderline personality features (BPF) and substance use disorders (SUDs) and the extent to which variation in personality traits contributes to this covariance. Design Genetic structural equation modelling was used to partition the variance in and covariance between personality traits, BPF, and SUDs into additive genetic, shared, and individual-specific environmental factors. Setting All participants were registered with the Australian Twin Registry. Participants A total of 3,127 Australian adult twins participated in the study. Measurements Diagnoses of DSM-IV alcohol and cannabis abuse/dependence (AAD; CAD), and nicotine dependence (ND) were derived via computer-assisted telephone interview. BPF and five-factor model personality traits were derived via self-report questionnaires. Findings Genetic factors were responsible for 49% (95%CI: 42%–55%) of the variance in BPF, 38–42% (95%CI range: 32%–49%) for personality traits and 47% (95%CI: 17%–77%), 54% (95%CI: 43%–64%), and 78% (67%–86%) for ND, AAD and CAD, respectively. Genetic and individual-specific environmental correlations between BPF and SUDs ranged from .33–.56 (95%CI range: .19–.74) and .19–.32 (95%CI range: .06–.43), respectively. Overall, there was substantial support for genetic influences that were specific to AAD, ND and CAD (31%–69%). Finally, genetic variation in personality traits was responsible for 11% (Extraversion for CAD) to 59% (Neuroticism for AAD) of the correlation between BPF and SUDs. Conclusions Both genetic and individual-specific environmental factors contribute to comorbidity between borderline personality features and substance use disorders. A substantial proportion of this comorbidity can be attributed to variation in normal personality traits, particularly Neuroticism. PMID:25041562

  9. [Personal identification with biometric and genetic methods].

    PubMed

    Cabanis, Emmanuel-Alain; Le Gall, Jean-Yves; Ardaillou, Raymond

    2007-11-01

    The need for personal identification is growing in many avenues of society. To "identify" a person is to establish a link between his or her observed characteristics and those previously stored in a database. To "authenticate" is to decide whether or not someone is the person he or she claims to be. These two objectives can now be achieved by analysing biometric data and genetic prints. All biometric techniques proceed in several stages: acquisition of an image or physical parameters, encoding them with a mathematical model, comparing the results of this model with those contained in the database, and calculating the error risk. These techniques must be usable worldwide and must examine specific and permanent personal data. The most widely used are facial recognition, digital prints (flexion folds and dermatoglyphs, that offer the advantage of leaving marks), and the surface and texture of the iris. Other biometric techniques analyse behaviours such as walking, signing, typing, or speaking. Implanted radio-transmitters are another means of identification. All these systems are evaluated on the basis of the same parameters, namely the false rejection rate, the false acceptance rate, and the failure-to-enrol rate. The uses of biometrics are increasing and diversifying, and now include national and international identification systems, control of access to protected sites, criminal and victim identification, and transaction security. Genetic methods can identify individuals almost infallibly, based on short tandem repeats of 2-5 nucleotides, or microsatellites. The most recent kits analyze 11-16 independent autosomal markers. Mitochondrial DNA and Y chromosome DNA can also be analyzed. These genetic tests are currently used to identify suspected criminals or their victims from biological samples, and to establish paternity. Personal identification raises many ethical questions, however, such as when to create and how to use a database while preserving personal freedom

  10. A phenotypic null hypothesis for the genetics of personality.

    PubMed

    Turkheimer, Eric; Pettersson, Erik; Horn, Erin E

    2014-01-01

    We review the genetically informed literature on the genetics of personality. Over the past century, quantitative genetic studies, using identical and fraternal twins, have demonstrated that differences in human personality are substantially heritable. We focus on more contemporary questions to which that basic observation has led. We examine whether differences in the heritability of personality are replicable across different traits, samples, and studies; how the heritability of personality relates to its reliability; and how behavior genetics can be employed in studies of validity, and we discuss the stability of personality in genetic and environmental variance. The appropriate null hypothesis in behavior genetics is not that genetic or environmental influence on personality is zero. Instead, we offer a phenotypic null hypothesis, which states that genetic variance is not an independent mechanism of individual differences in personality but rather a reflection of processes that are best conceptualized at the phenotypic level. PMID:24050184

  11. The Impact of the Availability of Prevention Studies on the Desire to Undergo Predictive Testing in Persons at-risk for Autosomal Dominant Alzheimer’s Disease

    PubMed Central

    Hooper, Megan; Grill, Joshua D.; Rodriguez-Agudelo, Yaneth; Medina, Luis D.; Fox, Michelle; Alvarez-Retuerto, Ana Isabel; Wharton, David; Brook, Jenny; Ringman, John M.

    2013-01-01

    Persons at-risk for autosomal dominant neurodegenerative diseases provide the opportunity to efficiently test preventive interventions. Only a minority of such persons, however, choose to undergo revealing genetic testing, presenting a challenge to enrollment. Thirty-four preclinical Latinos (n = 26) and non-Latinos at-risk for familial Alzheimer’s disease (FAD) unaware of their genetic status were administered a questionnaire exploring their interest in undergoing revealing genetic testing at baseline and in the context of eligibility for four prevention trials of increasing invasiveness. Forty-four percent of subjects expressed a baseline interest in undergoing revealing testing which increased to 85% in order to be eligible for a study of an oral drug "felt to be very safe.” If there were a 50% chance of receiving placebo, this number dropped to 62% (p = 0.02). For those not interested in a study involving a 50% chance of receiving placebo, a range of 5% to 40% chance of receiving placebo was given as acceptable. For more invasive studies, living in the U.S. (as opposed to Mexico) positively influenced the likelihood of participating. Our data suggests that clinical trial designs in which persons must confront their genetic status prior to enrollment are feasible. Study designs to minimize the likelihood of being placed on placebo or provide the eventual administration of the drug through open-label extensions should be considered. PMID:23876673

  12. Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative.

    PubMed

    Schmidlen, Tara J; Scheinfeldt, Laura; Zhaoyang, Ruixue; Kasper, Rachel; Sweet, Kevin; Gordon, Erynn S; Keller, Margaret; Stack, Cathy; Gharani, Neda; Daly, Mary B; Jarvis, Joseph; Christman, Michael F

    2016-04-01

    Genetic literacy is essential for the effective integration of genomic information into healthcare; yet few recent studies have been conducted to assess the current state of this knowledge base. Participants in the Coriell Personalized Medicine Collaborative (CPMC), a prospective study assessing the impact of personalized genetic risk reports for complex diseases and drug response on behavior and health outcomes, completed genetic knowledge questionnaires and other surveys through an online portal. To assess the association between genetic knowledge and genetic education background, multivariate linear regression was performed. 4 062 participants completed a genetic knowledge and genetic education background questionnaire. Most were older (mean age: 50), Caucasian (90 %), female (59 %), highly educated (69 % bachelor's or higher), with annual household income over $100 000 (49 %). Mean percent correct was 76 %. Controlling for demographics revealed that health care providers, participants previously exposed to genetics, and participants with 'better than most' self-rated knowledge were significantly more likely to have a higher knowledge score (p < 0.001). Overall, genetic knowledge was high with previous genetic education experience predictive of higher genetic knowledge score. Education is likely to improve genetic literacy, an important component to expanded use of genomics in personalized medicine. PMID:26306685

  13. Happiness is a personal(ity) thing: the genetics of personality and well-being in a representative sample.

    PubMed

    Weiss, Alexander; Bates, Timothy C; Luciano, Michelle

    2008-03-01

    Subjective well-being is known to be related to personality traits. However, to date, nobody has examined whether personality and subjective well-being share a common genetic structure. We used a representative sample of 973 twin pairs to test the hypothesis that heritable differences in subjective well-being are entirely accounted for by the genetic architecture of the Five-Factor Model's personality domains. Results supported this model. Subjective well-being was accounted for by unique genetic influences from Neuroticism, Extraversion, and Conscientiousness, and by a common genetic factor that influenced all five personality domains in the directions of low Neuroticism and high Extraversion, Openness, Agreeableness, and Conscientiousness. These findings indicate that subjective well-being is linked to personality by common genes and that personality may form an "affective reserve" relevant to set-point maintenance and changes in set point over time. PMID:18315789

  14. The evolution of personalized cancer genetic counseling in the era of personalized medicine

    PubMed Central

    Vig, Hetal S.; Wang, Catharine

    2014-01-01

    Practice changes in cancer genetic counseling have occurred to meet the demand for cancer genetic services. As cancer genetics continues to impact not only prevention strategies but also treatment decisions, current cancer genetic counseling models will need to be tailored to accommodate emerging clinical indications. These clinical indications include: surgical prophylactic bilateral mastectomy candidates, PARP-inhibitor candidates, patients with abnormal tumor screening results for Lynch syndrome, and post-test counseling patients (after genetic testing is ordered by another healthcare provider). A more personalized, multidisciplinary approach to selecting the best framework, for a given clinical indication, may become increasingly necessary in this era of personalized medicine. PMID:22419176

  15. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  16. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  17. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  18. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  19. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  20. Genetic components of variation in Nemophila menziesii undergoing inbreeding: morphology and flowering time.

    PubMed Central

    Shaw, R G; Byers, D L; Shaw, F H

    1998-01-01

    The standard approaches to estimation of quantitative genetic parameters and prediction of response to selection on quantitative traits are based on theory derived for populations undergoing random mating. Many studies demonstrate, however, that mating systems in natural populations often involve inbreeding in various degrees (i.e. , self matings and matings between relatives). Here we apply theory developed for estimating quantitative genetic parameters for partially inbreeding populations to a population of Nemophila menziesii recently obtained from nature and experimentally inbred. Two measures of overall plant size and two of floral size expressed highly significant inbreeding depression. Of three dominance components of phenotypic variance that are defined under partial inbreeding, one was found to contribute significantly to phenotypic variance in flower size and flowering time, while the remaining two components contributed only negligibly to variation in each of the five traits considered. Computer simulations investigating selection response under the more complete genetic model for populations undergoing mixed mating indicate that, for parameter values estimated in this study, selection response can be substantially slowed relative to predictions for a random mating population. Moreover, inbreeding depression alone does not generally account for the reduction in selection response. PMID:9832540

  1. Genetic components of variation in Nemophila menziesii undergoing inbreeding: morphology and flowering time.

    PubMed

    Shaw, R G; Byers, D L; Shaw, F H

    1998-12-01

    The standard approaches to estimation of quantitative genetic parameters and prediction of response to selection on quantitative traits are based on theory derived for populations undergoing random mating. Many studies demonstrate, however, that mating systems in natural populations often involve inbreeding in various degrees (i.e. , self matings and matings between relatives). Here we apply theory developed for estimating quantitative genetic parameters for partially inbreeding populations to a population of Nemophila menziesii recently obtained from nature and experimentally inbred. Two measures of overall plant size and two of floral size expressed highly significant inbreeding depression. Of three dominance components of phenotypic variance that are defined under partial inbreeding, one was found to contribute significantly to phenotypic variance in flower size and flowering time, while the remaining two components contributed only negligibly to variation in each of the five traits considered. Computer simulations investigating selection response under the more complete genetic model for populations undergoing mixed mating indicate that, for parameter values estimated in this study, selection response can be substantially slowed relative to predictions for a random mating population. Moreover, inbreeding depression alone does not generally account for the reduction in selection response. PMID:9832540

  2. Implementation and utilization of genetic testing in personalized medicine

    PubMed Central

    Abul-Husn, Noura S; Owusu Obeng, Aniwaa; Sanderson, Saskia C; Gottesman, Omri; Scott, Stuart A

    2014-01-01

    Clinical genetic testing began over 30 years ago with the availability of mutation detection for sickle cell disease diagnosis. Since then, the field has dramatically transformed to include gene sequencing, high-throughput targeted genotyping, prenatal mutation detection, preimplantation genetic diagnosis, population-based carrier screening, and now genome-wide analyses using microarrays and next-generation sequencing. Despite these significant advances in molecular technologies and testing capabilities, clinical genetics laboratories historically have been centered on mutation detection for Mendelian disorders. However, the ongoing identification of deoxyribonucleic acid (DNA) sequence variants associated with common diseases prompted the availability of testing for personal disease risk estimation, and created commercial opportunities for direct-to-consumer genetic testing companies that assay these variants. This germline genetic risk, in conjunction with other clinical, family, and demographic variables, are the key components of the personalized medicine paradigm, which aims to apply personal genomic and other relevant data into a patient’s clinical assessment to more precisely guide medical management. However, genetic testing for disease risk estimation is an ongoing topic of debate, largely due to inconsistencies in the results, concerns over clinical validity and utility, and the variable mode of delivery when returning genetic results to patients in the absence of traditional counseling. A related class of genetic testing with analogous issues of clinical utility and acceptance is pharmacogenetic testing, which interrogates sequence variants implicated in interindividual drug response variability. Although clinical pharmacogenetic testing has not previously been widely adopted, advances in rapid turnaround time genetic testing technology and the recent implementation of preemptive genotyping programs at selected medical centers suggest that personalized

  3. Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors.

    PubMed

    Lane, Michelle; Ngueng Feze, Ida; Joly, Yann

    2015-12-01

    Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e., life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100 % reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patients' current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patient genetic information by insurance companies, and whom patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28 % of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients. PMID:25925606

  4. Human genetics: international projects and personalized medicine.

    PubMed

    Apellaniz-Ruiz, Maria; Gallego, Cristina; Ruiz-Pinto, Sara; Carracedo, Angel; Rodríguez-Antona, Cristina

    2016-03-01

    In this article, we present the progress driven by the recent technological advances and new revolutionary massive sequencing technologies in the field of human genetics. We discuss this knowledge in relation with drug response prediction, from the germline genetic variation compiled in the 1000 Genomes Project or in the Genotype-Tissue Expression project, to the phenome-genome archives, the international cancer projects, such as The Cancer Genome Atlas or the International Cancer Genome Consortium, and the epigenetic variation and its influence in gene expression, including the regulation of drug metabolism. This review is based on the lectures presented by the speakers of the Symposium "Human Genetics: International Projects & New Technologies" from the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society, held on the 20th and 21st of April 2015. PMID:26581075

  5. Applying Personal Genetic Data to Injury Risk Assessment in Athletes

    PubMed Central

    Goodlin, Gabrielle T.; Roos, Andrew K.; Roos, Thomas R.; Hawkins, Claire; Beache, Sydney; Baur, Stephen; Kim, Stuart K.

    2015-01-01

    Recent studies have identified genetic markers associated with risk for certain sports-related injuries and performance-related conditions, with the hope that these markers could be used by individual athletes to personalize their training and diet regimens. We found that we could greatly expand the knowledge base of sports genetic information by using published data originally found in health and disease studies. For example, the results from large genome-wide association studies for low bone mineral density in elderly women can be re-purposed for low bone mineral density in young endurance athletes. In total, we found 124 single-nucleotide polymorphisms associated with: anterior cruciate ligament tear, Achilles tendon injury, low bone mineral density and stress fracture, osteoarthritis, vitamin/mineral deficiencies, and sickle cell trait. Of these single nucleotide polymorphisms, 91% have not previously been used in sports genetics. We conducted a pilot program on fourteen triathletes using this expanded knowledge base of genetic variants associated with sports injury. These athletes were genotyped and educated about how their individual genetic make-up affected their personal risk profile during an hour-long personal consultation. Overall, participants were favorable of the program, found it informative, and most acted upon their genetic results. This pilot program shows that recent genetic research provides valuable information to help reduce sports injuries and to optimize nutrition. There are many genetic studies for health and disease that can be mined to provide useful information to athletes about their individual risk for relevant injuries. PMID:25919592

  6. Racial variations in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing

    PubMed Central

    Inra, Jennifer A.; Steyerberg, Ewout W.; Grover, Shilpa; McFarland, Ashley; Syngal, Sapna; Kastrinos, Fay

    2016-01-01

    Purpose To assess whether differences in frequency and phenotype of APC and MUTYH mutations exist among racially/ethnically diverse populations. Methods 6169 individuals with personal and/or family history of colorectal cancer (CRC) and polyps were studied. APC testing involved full sequencing/large rearrangement analysis (FS/LRA); MUTYH involved “panel testing” (for Y165C, G382D mutations), or FS/LRA, performed by Myriad Genetics, a commercial laboratory. Subjects were identified as Caucasian, Asian, African American (AA), or Other. Statistical tests included Chi-Square, Fisher’s Exact, ANOVA and z-approximation. Results 17.5% had pathogenic APC mutations. 4.8% were biallelic MUTYH carriers. 18% were non-Caucasian with >100 adenomas and younger ages of adenoma or CRC diagnosis (p<0.0001) than Caucasians. The overall APC mutation rate was higher in Asians, AAs and Others compared to Caucasians (25.2%, 30.9%, 24%, 15.5%;p<0.0001) but similar in all groups when adjusted for polyp burden. More MUTYH biallelic carriers were Caucasian or Other than Asian or AA (5%, 7%, 2.7%, 0.3%;p<0.0001). Among Caucasians, 5% were biallelic carriers identified by panel testing versus 2% by sequencing/LRA (p=0.002). Among non-Caucasians, 3% undergoing panel testing were biallelic carriers versus 10% identified by sequencing/LRA(p<0.0002). Conclusion Non-Caucasians undergo genetic testing at more advanced stages of polyposis and/or younger ages of CRC/polyp diagnosis. Restricted MUTYH analysis may miss significant numbers of biallelic carriers, particularly in non-Caucasians. PMID:25590978

  7. Preferences for Outcomes Associated with Decisions to Undergo or Forego Genetic Testing for Lynch Syndrome

    PubMed Central

    Kuppermann, Miriam; Wang, Grace; Wong, Shirley; Blanco, Amie; Conrad, Peggy; Nakagawa, Sanae; Terdiman, Jonathan; Ladabaum, Uri

    2015-01-01

    Background Current guidelines recommend offering genetic testing for Lynch syndrome to individuals whose tumors suggest this condition and to relatives of affected individuals. Little is known, however, regarding how patients view the prospect of such testing. In addition, data on preferences (utilities) for the potential outcomes of testing decisions for use in cost-effectiveness analyses are lacking. Methods We elicited time tradeoff utilities for ten potential outcomes of Lynch syndrome testing decisions and three associated cancers from 70 participants representing a range of knowledge about and experiences with Lynch syndrome. Results Highest mean utilities were assigned to scenarios in which only the assessor's sibling had Lynch-associated colorectal cancer (ranging from 0.669±0.231 to 0.760±0.220). Utilities assigned to scenarios in which the assessor had Lynch-associated colorectal cancer ranged from 0.605±0.252 to 0.682±0.246, while the lowest mean utilities were assigned to 2 of the general cancer states (0.601±0.238 and 0.593±0.272 for colorectal and ovarian cancer respectively). Only 43% of the sample assigned higher values to undergoing Lynch testing and receiving negative results versus foregoing Lynch testing, while 50% assigned higher values to undergoing rather than foregoing surgery to prevent a subsequent cancer. Conclusions Genetic testing for Lynch syndrome, regardless of results, can have profound effects on quality of life; the utilities we collected can be used to incorporate these effects into cost-effectiveness analyses. Importantly, preferences for the potential outcomes of testing vary substantially, calling into question the extent to which patients would avail themselves of such testing if it were offered to them. PMID:22786716

  8. Nursing strategies to reduce length of stay for persons undergoing total knee replacement: integrative review of key variables.

    PubMed

    Hass, Shelly; Jaekel, Camilla; Nesbitt, Bonnie

    2015-01-01

    Decreasing the length of stay for persons undergoing total knee replacement surgery can improve patient and organizational outcomes while reducing health care costs. This integrative review examined selected nurse-driven variables that assist the interdisciplinary team to reduce length of stay. Findings suggest that a targeted clinical pathway including comprehensive preoperative patient education, physical therapy on the day of surgery, multimodal pain control, and proactive discharge planning may provide the best practice with this patient population. PMID:25485792

  9. The personal genome browser: visualizing functions of genetic variants.

    PubMed

    Juan, Liran; Teng, Mingxiang; Zang, Tianyi; Hao, Yafeng; Wang, Zhenxing; Yan, Chengwu; Liu, Yongzhuang; Li, Jie; Zhang, Tianjiao; Wang, Yadong

    2014-07-01

    Advances in high-throughput sequencing technologies have brought us into the individual genome era. Projects such as the 1000 Genomes Project have led the individual genome sequencing to become more and more popular. How to visualize, analyse and annotate individual genomes with knowledge bases to support genome studies and personalized healthcare is still a big challenge. The Personal Genome Browser (PGB) is developed to provide comprehensive functional annotation and visualization for individual genomes based on the genetic-molecular-phenotypic model. Investigators can easily view individual genetic variants, such as single nucleotide variants (SNVs), INDELs and structural variations (SVs), as well as genomic features and phenotypes associated to the individual genetic variants. The PGB especially highlights potential functional variants using the PGB built-in method or SIFT/PolyPhen2 scores. Moreover, the functional risks of genes could be evaluated by scanning individual genetic variants on the whole genome, a chromosome, or a cytoband based on functional implications of the variants. Investigators can then navigate to high risk genes on the scanned individual genome. The PGB accepts Variant Call Format (VCF) and Genetic Variation Format (GVF) files as the input. The functional annotation of input individual genome variants can be visualized in real time by well-defined symbols and shapes. The PGB is available at http://www.pgbrowser.org/. PMID:24799434

  10. Are genetic self-tests dangerous? Assessing the commercialization of genetic testing in terms of personal autonomy.

    PubMed

    Beckman, Ludvig

    2004-01-01

    Should a growing market for genetic self-tests be welcomed or feared? From the point of view of personal autonomy the increasing availability of predictive health information seems promising. Yet it is frequently pointed out that genetic information about future health may cause anxiety, distress and even loss of "life-hopes." In this article the argument that genetic self-tests undermine personal autonomy is assessed and criticized. I contend that opportunities for autonomous choice are not reduced by genetic information but by misperceptions and misunderstandings of the results of genetic tests. Since the interpretation of genetic information is sometimes distorted by the information provided about the genetic products, more attention should be given to deceitful marketing that overblows the utility of genetic products. Yet personal autonomy is reduced neither by genetic tests nor by genetic information and there is consequently no compelling case for the conclusion that genetic self-tests should be prohibited. PMID:15690941

  11. Education and personalized genomics: deciphering the public's genetic health report

    PubMed Central

    Lamb, Neil E; Myers, Richard M; Gunter, Chris

    2010-01-01

    Where do members of the public turn to understand what genetic tests mean in terms of their own health? Now that genome-wide association studies and complete genome sequencing are widely available, the importance of education in personalized genomics cannot be overstated. Although some media have introduced the concept of genetic testing to better understand health and disease, the public's understanding of the scope and impact of genetic variation has not kept up with the pace of the science or technology. Unfortunately, the likely sources to which the public turn to for guidance – their physician and the media – are often no better prepared. We examine several venues for information, including print and online guides for both lay and health-oriented audiences, and summarize selected resources in multiple formats. We also note on the roadblocks to progress and discuss ways to remove them, as urgent action is needed to connect people with their genomes in a meaningful way. PMID:20161675

  12. The personal genome browser: visualizing functions of genetic variants

    PubMed Central

    Juan, Liran; Teng, Mingxiang; Zang, Tianyi; Hao, Yafeng; Wang, Zhenxing; Yan, Chengwu; Liu, Yongzhuang; Li, Jie; Zhang, Tianjiao; Wang, Yadong

    2014-01-01

    Advances in high-throughput sequencing technologies have brought us into the individual genome era. Projects such as the 1000 Genomes Project have led the individual genome sequencing to become more and more popular. How to visualize, analyse and annotate individual genomes with knowledge bases to support genome studies and personalized healthcare is still a big challenge. The Personal Genome Browser (PGB) is developed to provide comprehensive functional annotation and visualization for individual genomes based on the genetic–molecular–phenotypic model. Investigators can easily view individual genetic variants, such as single nucleotide variants (SNVs), INDELs and structural variations (SVs), as well as genomic features and phenotypes associated to the individual genetic variants. The PGB especially highlights potential functional variants using the PGB built-in method or SIFT/PolyPhen2 scores. Moreover, the functional risks of genes could be evaluated by scanning individual genetic variants on the whole genome, a chromosome, or a cytoband based on functional implications of the variants. Investigators can then navigate to high risk genes on the scanned individual genome. The PGB accepts Variant Call Format (VCF) and Genetic Variation Format (GVF) files as the input. The functional annotation of input individual genome variants can be visualized in real time by well-defined symbols and shapes. The PGB is available at http://www.pgbrowser.org/. PMID:24799434

  13. Translating the genetics of cystic fibrosis to personalized medicine.

    PubMed

    Corvol, Harriet; Thompson, Kristin E; Tabary, Olivier; le Rouzic, Philippe; Guillot, Loïc

    2016-02-01

    Cystic fibrosis (CF) is the most common life-threatening recessive genetic disease in the Caucasian population. This multiorgan disease is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a chloride channel recognized as regulating several apical ion channels. The gene mutations result either in the lack of the protein at the apical surface or in an improperly functioning protein. Morbidity and mortality because of the mutation of CFTR are mainly attributable to lung disease resulting from chronic infection and inflammation. Since its discovery as the causative gene in 1989, much progress has been achieved not only in clinical genetics but also in basic science studies. Recently, combinations of these efforts have been successfully translated into development and availability for patients of new therapies targeting specific CFTR mutations to correct the CFTR at the protein level. Current technologies such as next gene sequencing and novel genomic editing tools may offer new strategies to identify new CFTR variants and modifier genes, and to correct CFTR to pursue personalized medicine, which is already developed in some patient subsets. Personalized medicine or P4 medicine ("personalized," "predictive," "preventive," and "participatory") is currently booming for CF. The various current and future challenges of personalized medicine as they apply to the issues faced in CF are discussed in this review. PMID:25940043

  14. Toward a genetically-informed model of borderline personality disorder.

    PubMed

    Livesley, John

    2008-02-01

    This article describes a conceptual framework for describing borderline personality disorder (BPD) based on empirical studies of the phenotypic structure and genetic architecture of personality. The proposed phenotype has 2 components: (1) a description of core self and interpersonal pathology-the defining features of personality disorder-as these features are expressed in the disorder; and (2) a set of traits based on the anxious-dependent or emotional dysregulation factor of the four-factor model of PD. Four kinds of traits are described: emotional (anxiousness, emotional reactivity, emotional intensity, and pessimistic-anhedonia), interpersonal (submissiveness, insecure attachment, social apprehensiveness, and need for approval), cognitive (cognitive dysregulation), and self-harm (behaviors and ideas). Formulation of the phenotype was guided by the conceptualization of personality as a system of interrelated sub-systems. The psychopathology associated with BPD involves most components of the system. The trait structure of the disorder is assumed to reflect the genetic architecture of personality and individual traits are assumed to be based on adaptive mechanisms. It is suggested that borderline traits are organized around the trait of anxiousness and that an important feature of BPD is dysregulation of the threat management system leading to pervasive fearfulness and unstable emotions. The interpersonal traits are assumed to be heritable characteristics that evolved to deal with interpersonal threats that arose as a result of social living. The potential for unstable and conflicted interpersonal relationships that is inherent to the disorder is assumed to result from the interplay between the adaptive structure of personality and psychosocial adversity. The etiology of the disorder is discussed in terms of biological and environmental factors associated with each component of the phenotype. PMID:18312122

  15. Genetics and Vaccines in the Era of Personalized Medicine

    PubMed Central

    Castiblanco, John; Anaya, Juan-Manuel

    2015-01-01

    Vaccines represent the most successful and sustainable tactic to prevent and counteract infection. A vaccine generally improves immunity to a particular disease upon administration by inducing specific protective and efficient immune responses in all of the receiving population. The main known factors influencing the observed heterogeneity for immune re-sponses induced by vaccines are gender, age, co-morbidity, immune system, and genetic background. This review is mainly focused on the genetic status effect to vaccine immune responses and how this could contribute to the development of novel vaccine candidates that could be better directed and predicted relative to the genetic history of an individual and/or population. The text offers a brief history of vaccinology as a field, a description of the genetic status of the most relevant and studied genes and their functionality and correlation with exposure to specific vaccines; followed by an inside look into autoimmunity as a concern when designing vaccines as well as perspectives and conclusions looking towards an era of personalized and predictive vaccinology instead of a one size fits all approach. PMID:25937813

  16. Genetics and vaccines in the era of personalized medicine.

    PubMed

    Castiblanco, John; Anaya, Juan-Manuel

    2015-02-01

    Vaccines represent the most successful and sustainable tactic to prevent and counteract infection. A vaccine generally improves immunity to a particular disease upon administration by inducing specific protective and efficient immune responses in all of the receiving population. The main known factors influencing the observed heterogeneity for immune re-sponses induced by vaccines are gender, age, co-morbidity, immune system, and genetic background. This review is mainly focused on the genetic status effect to vaccine immune responses and how this could contribute to the development of novel vaccine candidates that could be better directed and predicted relative to the genetic history of an individual and/or population. The text offers a brief history of vaccinology as a field, a description of the genetic status of the most relevant and studied genes and their functionality and correlation with exposure to specific vaccines; followed by an inside look into autoimmunity as a concern when designing vaccines as well as perspectives and conclusions looking towards an era of personalized and predictive vaccinology instead of a one size fits all approach. PMID:25937813

  17. Observed Personality in Childhood: Psychometric and Behavioral Genetic Evidence of Two Broad Personality Factors

    PubMed Central

    Wang, Zhe; Chen, Nan; Petrill, Stephen A.; Deater-Deckard, Kirby

    2014-01-01

    We examined broad dimensions of children’s personalities (total n = 1056; age = 3.5 to 12 years) based on observers’ perceptions following a few hours of structured interaction. Siblings’ behaviors during a two-hour cognitive assessment in the home were rated separately by two different observers. Exploratory and confirmatory factor analyses clearly revealed a two-factor solution in three different samples. There was correspondence between parent-rated temperament and the observer-rated factors. Cross-sectional analyses indicated lower Plasticity among older children and higher Stability among older children. Sex differences were negligible. Plasticity and Stability were correlated in the .2 to .3 range. Most of the sibling similarity in the Plasticity was due to additive genetic influences, whereas most sibling similarity in Stability was attributable to shared environmental influences. The findings implicate a biometric factor structure to childhood personality that fits well with emerging bio-social theories of personality development. PMID:24932065

  18. Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction.

    PubMed

    Robinson, C L; Jouni, H; Kruisselbrink, T M; Austin, E E; Christensen, K D; Green, R C; Kullo, I J

    2016-02-01

    We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45-65 years) were randomized to receive estimated 10-year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation. PMID:25708169

  19. Body image dysmorphic disorder in persons who undergo aesthetic medical treatments.

    PubMed

    Sarwer, David B; Spitzer, Jacqueline C

    2012-11-01

    This article reviews the literature on body dysmorphic disorder (BDD) in patients who seek aesthetic surgery and other appearance-enhancing medical treatments such as dermatologic treatment. It begins with a discussion of the growing popularity of aesthetic medical treatments. The literature investigating the psychological characteristics of individuals interested in these treatments is highlighted. Studies suggest that 5% to 15% of individuals who seek these aesthetic medical treatments suffer from BDD. Retrospective reports suggest that persons with BDD rarely experience improvement in their symptoms following these treatments, leading some to suggest that BDD is a contraindication to treatment. The article ends with a discussion of the clinical management of patients with BDD who present for an aesthetic change in their appearance. PMID:23015692

  20. Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene.

    PubMed

    Rodriguez, Santiago; Steer, Colin D; Farrow, Alexandra; Golding, Jean; Day, Ian N M

    2013-07-01

    Earwax type and axillary odor are genetically determined by rs17822931, a single-nucleotide polymorphism (SNP) located in the ABCC11 gene. The literature has been concerned with the Mendelian trait of earwax, although axillary odor is also Mendelian. Ethnic diversity in rs17822931 exists, with higher frequency of allele A in east Asians. Influence on deodorant usage has not been investigated. In this work, we present a detailed analysis of the rs17822931 effect on deodorant usage in a large (N∼17,000 individuals) population cohort (the Avon Longitudinal Study of Parents and Children (ALSPAC)). We found strong evidence (P=3.7 × 10(-20)) indicating differential deodorant usage according to the rs17822931 genotype. AA homozygotes were almost 5-fold overrepresented in categories of never using deodorant or using it infrequently. However, 77.8% of white European genotypically nonodorous individuals still used deodorant, and 4.7% genotypically odorous individuals did not. We provide evidence of a behavioral effect associated with rs17822931. This effect has a biological basis that can result in a change in the family's environment if an aerosol deodorant is used. It also indicates potential cost saving to the nonodorous and scope for personalized genetics usage in personal hygiene choices, with consequent reduction of inappropriate chemical exposures for some. PMID:23325016

  1. Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning.

    PubMed

    Esplen, M J; Madlensky, L; Aronson, M; Rothenmund, H; Gallinger, S; Butler, K; Toner, B; Wong, J; Manno, M; McLaughlin, J

    2007-11-01

    Hereditary non-polyposis colorectal cancer (HNPCC) represents about 1-3% of all cases of colorectal cancer (CRC). The objectives of the study were to examine motivational factors, expectations and psychosocial functioning in a sample of CRC survivors undergoing genetic testing for HNPCC. A cross-sectional survey of 314 colorectal cancer patients recruited through a population-based colon cancer family registry was conducted. Motivations for genetic testing for hereditary cancer were similar to those of clinic-based samples of CRC patients and included learning of the increased risk to offspring and finding out if additional screening was needed. While age at diagnosis and sex were associated with psychological functioning, significant predictors of post-counseling distress were perceived lower satisfaction with social support, an escape-avoidant coping style and the anticipation of becoming depressed if a mutation was present. Most cancer survivors anticipated disclosing test results to relatives and physicians. Cancer survivors reported several motivations for genetic testing for HNPCC that varied by sex. A subgroup of survivors with lower satisfaction with social support and an escape-avoidant coping style were worried about the potential impact of genetic test results and demonstrated more distress following counseling. Findings have implications for future research and potential support needs during the genetic counseling and testing process. PMID:17892499

  2. Constraints on decision making: implications from genetics, personality, and addiction.

    PubMed

    Baker, Travis E; Stockwell, Tim; Holroyd, Clay B

    2013-09-01

    An influential neurocomputational theory of the biological mechanisms of decision making, the "basal ganglia go/no-go model," holds that individual variability in decision making is determined by differences in the makeup of a striatal system for approach and avoidance learning. The model has been tested empirically with the probabilistic selection task (PST), which determines whether individuals learn better from positive or negative feedback. In accordance with the model, in the present study we examined whether an individual's ability to learn from positive and negative reinforcement can be predicted by genetic factors related to the midbrain dopamine system. We also asked whether psychiatric and personality factors related to substance dependence and dopamine affect PST performance. Although we found characteristics that predicted individual differences in approach versus avoidance learning, these observations were qualified by additional findings that appear inconsistent with the predictions of the go/no-go model. These results highlight a need for future research to validate the PST as a measure of basal ganglia reward learning. PMID:23658007

  3. Modelling decisions to undergo genetic testing for susceptibility to common health conditions: an ancillary study of the Multiplex Initiative.

    PubMed

    Wade, Christopher H; Shiloh, Shoshana; Woolford, Samuel W; Roberts, J Scott; Alford, Sharon Hensley; Marteau, Theresa M; Biesecker, Barbara B

    2012-01-01

    New genetic tests reveal risks for multiple conditions simultaneously, although little is understood about the psychological factors that affect testing uptake. We assessed a conceptual model called the multiplex genetic testing model (MGTM) using structural equation modelling. The MGTM delineates worry, perceived severity, perceived risk, response efficacy and attitudes towards testing as predictors of intentions and behaviour. Participants were 270 healthy insured adults aged 25-40 from the Multiplex Initiative conducted within a health care system in Detroit, MI, USA. Participants were offered a genetic test that assessed risk for eight common health conditions. Confirmatory factor analysis revealed that worry, perceived risk and severity clustered into two disease domains: cancer or metabolic conditions. Only perceived severity of metabolic conditions was correlated with general response efficacy (β = 0.13, p<0.05), which predicted general attitudes towards testing (β = 0.24, p<0.01). Consistent with our hypothesised model, attitudes towards testing were the strongest predictors of intentions to undergo testing (β = 0.49, p<0.01), which in turn predicted testing uptake (OR 17.7, β = 0.97, p<0.01). The MGTM explained a striking 48% of the variance in intentions and 94% of the variation in uptake. These findings support use of the MGTM to explain psychological predictors of testing for multiple health conditions. PMID:21660870

  4. The genetic and environmental covariation among psychopathic personality traits, and reactive and proactive aggression in childhood.

    PubMed

    Bezdjian, Serena; Tuvblad, Catherine; Raine, Adrian; Baker, Laura A

    2011-01-01

    The present study investigated the genetic and environmental covariance between psychopathic personality traits with reactive and proactive aggression in 9- to 10-year-old twins (N = 1,219). Psychopathic personality traits were assessed with the Child Psychopathy Scale (D. R. Lynam, 1997), while aggressive behaviors were assessed using the Reactive Proactive Questionnaire (A. Raine et al., 2006). Significant common genetic influences were found to be shared by psychopathic personality traits and aggressive behaviors using both caregiver (mainly mother) and child self-reports. Significant genetic and nonshared environmental influences specific to psychopathic personality traits and reactive and proactive aggression were also found, suggesting etiological independence among these phenotypes. Additionally, the genetic relation between psychopathic personality traits and aggression was significantly stronger for proactive than reactive aggression when using child self-reports. PMID:21557742

  5. A behavioral genetic analysis of callous-unemotional traits and Big Five personality in adolescence.

    PubMed

    Mann, Frank D; Briley, Daniel A; Tucker-Drob, Elliot M; Harden, K Paige

    2015-11-01

    Callous-unemotional (CU) traits, such as lacking empathy and emotional insensitivity, predict the onset, severity, and persistence of antisocial behavior. CU traits are heritable, and genetic influences on CU traits contribute to antisocial behavior. This study examines genetic overlap between CU traits and general domains of personality. We measured CU traits using the Inventory of Callous-Unemotional Traits (ICU) and Big Five personality using the Big Five Inventory in a sample of adolescent twins from the Texas Twin Project. Genetic influences on the Big Five personality dimensions could account for the entirety of genetic influences on CU traits. Item Response Theory results indicate that the Inventory of Callous and Unemotional Traits is better at detecting clinically relevant personality variation at lower extremes of personality trait continua, particularly low agreeableness and low conscientiousness. The proximate biological mechanisms that mediate genetic liabilities for CU traits remain an open question. The results of the current study suggest that understanding the development of normal personality may inform understanding of the genetic underpinnings of callous and unemotional behavior. PMID:26595476

  6. A behavior genetic investigation of the relationship between leadership and personality.

    PubMed

    Johnson, Andrew M; Vernon, Philip A; Harris, Julie Aitken; Jang, Kerry L

    2004-02-01

    Phenotypic research on leadership style has long considered the importance of individual differences in personality when identifying the behaviors associated with good leaders. Although leadership and many personality traits have been separately shown to be heritable, these constructs have not been examined with genetically informative data to identify common sources of heritability in the two domains. A logical extension to current research, therefore, is to examine the extent to which factors of personality are predictive of leadership dimensions and the extent to which unique genetic contributions to the relationship between personality and leadership style may be identified. Adult twin pairs (183 MZ and 64 same-sex DZ) completed the Multifactor Leadership Questionnaire (MLQ) and the Personality Research Form (PRF). Univariate analyses indicated that both leadership factors (transformational and transactional leadership) and all five of the "Big Five" factors (openness, conscientiousness, extraversion, disagreeableness, and neuroticism) were best fit by genetic models. Multivariate genetic analyses suggest that transformational leadership shows a statistically significant positive genetic correlation with conscientiousness, extraversion, and openness to experience. Transactional leadership shows a significant negative genetic correlation with conscientiousness and extraversion, and a significant positive genetic correlation with disagreeableness. These results underscore the importance of conscientiousness and extraversion in predicting leadership style, and illustrate important differences between transformational and transactional leaders. PMID:15053851

  7. Facial emotion perception differs in young persons at genetic and clinical high-risk for psychosis.

    PubMed

    Kohler, Christian G; Richard, Jan A; Brensinger, Colleen M; Borgmann-Winter, Karin E; Conroy, Catherine G; Moberg, Paul J; Gur, Ruben C; Gur, Raquel E; Calkins, Monica E

    2014-05-15

    A large body of literature has documented facial emotion perception impairments in schizophrenia. More recently, emotion perception has been investigated in persons at genetic and clinical high-risk for psychosis. This study compared emotion perception abilities in groups of young persons with schizophrenia, clinical high-risk, genetic risk and healthy controls. Groups, ages 13-25, included 24 persons at clinical high-risk, 52 first-degree relatives at genetic risk, 91 persons with schizophrenia and 90 low risk persons who completed computerized testing of emotion recognition and differentiation. Groups differed by overall emotion recognition abilities and recognition of happy, sad, anger and fear expressions. Pairwise comparisons revealed comparable impairments in recognition of happy, angry, and fearful expressions for persons at clinical high-risk and schizophrenia, while genetic risk participants were less impaired, showing reduced recognition of fearful expressions. Groups also differed for differentiation of happy and sad expressions, but differences were mainly between schizophrenia and control groups. Emotion perception impairments are observable in young persons at-risk for psychosis. Preliminary results with clinical high-risk participants, when considered along findings in genetic risk relatives, suggest social cognition abilities to reflect pathophysiological processes involved in risk of schizophrenia. PMID:24582775

  8. Assessment of heritable genetic effects using new genetic tools and sentinels in an era of personalized medicine.

    PubMed

    Elespuru, Rosalie K

    2011-05-01

    The challenge of estimating human health effects from damage to the germ line may be met in the genomic era. Understanding the genetic, as opposed to postconception developmental basis of birth defects is critical to their use in monitoring heritable genetic damage. The causes of common birth defects are analyzed here: mendelian genetic, multigenic, developmental, inherited, or combinational. Only a small fraction of these (noninherited, mendelian genetic) are likely to be informative relative to germ cell mutagenesis, and these won't be discernible against the general background of birth defects. Targeted genetic testing as part of personalized medicine could be integrated into a strategy for assessing germ cell alterations in populations. Thus, "sentinel mutations," as originally proposed by Mulvihill and Ceizel, need not be restricted to X-linked or dominant mutations or conditions visible at birth. Several new sentinels related to personalized medicine are proposed, based on health impact (likelihood of monitoring), frequency, and genetic target suitability (responsiveness to diverse mutational mechanisms). Candidates could include CYP genes (related to metabolism of xenobiotics) important in optimizing drug doses and avoiding adverse reactions. High frequency LDLR mutations (related to familial high cholesterol) predict myocardial infarction in approximately50% of individuals. The more common recessive genetic diseases (cystic fibrosis, phenylketonuria, and others) monitored in newborn screening programs could be informative given parental analysis. New opportunities for genetic analyses need to be coupled with epidemiological studies on environmental exposures. These could focus on adverse outcomes related to tobacco, the mostubiquitous and potent environmental mutagen. PMID:21472782

  9. Genetic and Neuroimaging Features of Personality Disorders: State of the Art.

    PubMed

    Ma, Guorong; Fan, Hongying; Shen, Chanchan; Wang, Wei

    2016-06-01

    Personality disorders often act as a common denominator for many psychiatric problems, and studies on personality disorders contribute to the etiopathology, diagnosis, and treatment of many mental disorders. In recent years, increasing evidence from various studies has shown distinctive features of personality disorders, and that from genetic and neuroimaging studies has been especially valuable. Genetic studies primarily target the genes encoding neurotransmitters and enzymes in the serotoninergic and dopaminergic systems, and neuroimaging studies mainly focus on the frontal and temporal lobes as well as the limbic-paralimbic system in patients with personality disorders. Although some studies have suffered due to unclear diagnoses of personality disorders and some have included few patients for a given personality disorder, great opportunities remain for investigators to launch new ideas and technologies in the field. PMID:27037690

  10. Genetic and Environmental Influences on Extreme Personality Dispositions in Adolescent Female Twins

    ERIC Educational Resources Information Center

    Pergadia, Michele L.; Madden, Pamela A. F.; Lessov, Christina N.; Todorov, Alexandre A.; Bucholz, Kathleen K.; Martin, Nicholas G.; Heath, Andrew C.

    2006-01-01

    Background: The objective was to determine whether the pattern of environmental and genetic influences on deviant personality scores differs from that observed for the normative range of personality, comparing results in adolescent and adult female twins. Methods: A sample of 2,796 female adolescent twins ascertained from birth records provided…

  11. The Genetic and Environmental Covariation among Psychopathic Personality Traits, and Reactive and Proactive Aggression in Childhood

    ERIC Educational Resources Information Center

    Bezdjian, Serena; Tuvblad, Catherine; Raine, Adrian; Baker, Laura A.

    2011-01-01

    The present study investigated the genetic and environmental covariance between psychopathic personality traits with reactive and proactive aggression in 9- to 10-year-old twins (N = 1,219). Psychopathic personality traits were assessed with the Child Psychopathy Scale (D. R. Lynam, 1997), while aggressive behaviors were assessed using the…

  12. Identical genetic influences underpin behavior problems in adolescence and basic traits of personality

    PubMed Central

    Lewis, Gary J; Haworth, Claire M A; Plomin, Robert

    2014-01-01

    Background Understanding the etiology of adolescent problem behavior has been of enduring interest. Only relatively recently, however, has this issue been examined within a normal personality trait framework. Research suggests that problem behaviors in adolescence and beyond may be adequately explained by the taxonomy provided by the basic dimensions of normal personality: Such problem behaviors are suggested to be extreme points on a distribution of the full range of the underlying traits. We extend work in this field examining the extent to which genetic factors underlying the five-factor model of personality are common with genetic influences on adolescent behavior problems (namely, anxiety, peer problems, conduct, hyperactivity, and low prosociality). Method A nationally representative twin sample (Twins Early Development Study) from the general population of England and Wales, including 2031 pairs of twins aged 16 years old, was used to decompose variation into genetic and environmental components. Behavioral problems in adolescence were assessed by self-report with the Strengths and Difficulties Questionnaire. Results Adolescent behavior problems were moderately associated with normal personality: Specifically, a fifth to a third of phenotypic variance in problem behaviors was accounted for by five-factor model personality traits. Of central importance here, genetic influences underpinning personality were entirely overlapping with those genetic factors underlying adolescent behavior problems. Conclusions These findings suggest that adolescent behavior problems can be understood, at least in part, within a model of normal personality trait variation, with the genetic bases of these behavior problems the same as those genetic influences underpinning normal personality. Read the Commentary for this article on doi: 10.1111/jcpp.12292 PMID:24256444

  13. Genetic and Environmental Continuity in Personality Development: A Meta-Analysis

    PubMed Central

    Briley, Daniel A.; Tucker-Drob, Elliot M.

    2014-01-01

    The longitudinal stability of personality is low in childhood, but increases substantially into adulthood. Theoretical explanations for this trend differ in the emphasis placed on intrinsic maturation and socializing influences. To what extent does the increasing stability of personality result from the continuity and crystallization of genetically influenced individual differences, and to what extent does the increasing stability of life experiences explain increases in personality trait stability? Behavioral genetic studies, which decompose longitudinal stability into sources associated with genetic and environmental variation, can help to address this question. We aggregated effect sizes from 24 longitudinal behavioral genetic studies containing information on a total of 21,057 sibling pairs from six types that varied in terms of genetic relatedness and ranged in age from infancy to old age. A combination of linear and nonlinear meta-analytic regression models were used to evaluate age-trends in levels of heritability and environmentality, stabilities of genetic and environmental effects, and the contributions of genetic and environmental effects to overall phenotypic stability. Both the genetic and environmental influences on personality increase in stability with age. The contribution of genetic effects to phenotypic stability is moderate in magnitude and relatively constant with age, in part because of small-to-moderate decreases in the heritability of personality over child development that offset increases in genetic stability. In contrast, the contribution of environmental effects to phenotypic stability increases from near-zero in early childhood to moderate in adulthood. The lifespan trend of increasing phenotypic stability, therefore, predominantly results from environmental mechanisms. PMID:24956122

  14. Personality Mediation of Genetic Effects on Attention-Deficit/Hyperactivity Disorder

    PubMed Central

    Nikolas, Molly; Jernigan, Katherine; Friderici, Karen; Nigg, Joel T.

    2015-01-01

    Personality traits may be viable candidates for mediators of the relationship between genetic risk and ADHD. Participants were 578 children (331 boys; 320 children with ADHD) between the ages of six and 18. Parents and teachers completed a comprehensive, multistage diagnostic procedure to assess ADHD and comorbid disorders. Mother completed the California Q-Sort to assess child Big Five personality traits. Children provided buccal samples of DNA which were assayed for selected markers on DRD4, DAT1, and ADRA2A. An additive genetic risk composite was associated with ADHD symptoms and maladaptive personality traits; maladaptive personality traits were associated with ADHD symptoms. Low conscientiousness and high neuroticism partially mediated the relationship between genetic risk and ADHD symptoms. Mediation effects for conscientiousness were specific to inattentive symptoms; effects for neuroticism generalized to all disruptive behaviors. High neuroticism and low conscientiousness may be useful as early markers for children at risk for ADHD. PMID:20146095

  15. Genetic and environmental influences on risky sexual behaviour and its relationship with personality.

    PubMed

    Zietsch, B P; Verweij, K J H; Bailey, J M; Wright, M J; Martin, N G

    2010-01-01

    Risky sexual behaviour is a major health issue in society, and it is therefore important to understand factors that may predispose individuals to such behaviour. Research suggests a link between risky sexual behaviour and personality, but the basis of this link remains unknown. Hans Eysenck proposed that personality is related to sexual behaviour via biological underpinnings of both. Here we test the viability of this perspective by analysing data from identical and non-identical twins (N = 4,904) who completed a questionnaire assessing sexual attitudes and behaviour as well as personality. Using genetic modelling of the twin data, we found that risky sexual behaviour was significantly positively correlated with Impulsivity (r = .27), Extraversion (r = .24), Psychoticism (r = .20), and Neuroticism (r = .09), and that in each case the correlation was due primarily to overlapping genetic influences. These findings suggest that the genetic influences that shape our personality may also predispose us to risky sexual behaviour. PMID:19813084

  16. Psychopathic personality traits in middle-aged male twins: a behavior genetic investigation.

    PubMed

    Brook, Michael; Panizzon, Matthew S; Kosson, David S; Sullivan, Elizabeth A; Lyons, Michael J; Franz, Carol E; Eisen, Seth A; Kremen, William S

    2010-08-01

    Psychopathic personality is characterized by interpersonal dominance, impulsivity, sensation seeking, poor planning, and aggressiveness. Studies have shown that the Multidimensional Personality Questionnaire (MPQ) can be used to estimate scores on the fearless-dominant (FD) and the impulsive-antisocial (IA) dimensions of the Psychopathic Personality Inventory (PPI), the best validated self-report measure of psychopathic personality traits. Prior behavior genetic studies reported roughly equal genetic and nonshared environmental influences for both FD and IA, which remained stable from adolescence to young adulthood. However, no prior studies address genetic and environmental influences on these dimensions beyond early adulthood. We utilized the classic twin method to examine genetic and environmental influences on variance in FD and IA in a sample of middle-aged male twins. Biometric modeling indicated that the variance in both factors is best explained by additive genetic and nonshared environmental influences. FD showed roughly equal contributions from genetic and environmental factors, whereas IA showed greater contributions from environmental than genetic factors. Additionally, the small phenotypic correlation between FD and IA was explained entirely by nonshared environmental factors. PMID:20695807

  17. Genetic Polymorphisms Influence the Ovarian Response to rFSH Stimulation in Patients Undergoing In Vitro Fertilization Programs with ICSI

    PubMed Central

    Boudjenah, Radia; Molina-Gomes, Denise; Torre, Antoine; Bergere, Marianne; Bailly, Marc; Boitrelle, Florence; Taieb, Stéphane; Wainer, Robert; Benahmed, Mohamed; de Mazancourt, Philippe; Selva, Jacqueline; Vialard, François

    2012-01-01

    Introduction Obtaining an adequate number of high-quality oocytes is a major challenge in controlled ovarian hyperstimulation (COH). To date, a range of hormonal and clinical parameters have been used to optimize COH but none have significant predictive value. This variability could be due to the genetic predispositions of single-nucleotide polymorphisms (SNPs). Here, we assessed the individual and combined impacts of thirteen SNPs that reportedly influence the outcome of in vitro fertilisation (IVF) on the ovarian response to rFSH stimulation for patients undergoing intracytoplasmic sperm injection program (ICSI). Results Univariate analysis revealed that only FSHR, ESR2 and p53 SNPs influenced the number of mature oocytes. The association was statistically significant for FSHR (p=0.0047) and ESR2 (0.0017) in the overall study population and for FSHR (p=0.0009) and p53 (p=0.0048) in subgroup that was more homogeneous in terms of clinical variables. After Bonferroni correction and a multivariate analysis, only the differences for FSHR and ESR2 polymorphisms were still statistically significant. In a multilocus analysis, only the FSHR and AMH SNP combination significantly influenced oocyte numbers in both population (p<0.01). Discussion We confirmed the impact of FSHR and ESR2 polymorphisms on the IVF outcome. Furthermore, we showed for the first time that a p53 polymorphism (which is already known to impact embryo implantation) could influence the ovarian response. However, given that this result lost its statistical significance after multivariate analysis, more data are needed to draw firm conclusions. Only the FSHR and AMH polymorphism combination appears to influence mature oocyte numbers but this finding also needs to be confirmed. Materials and Methods A 13 gene polymorphisms: FSHR(Asn680Ser), p53(Arg72Pro), AMH(Ile49Ser), ESR2(+1730G>A), ESR1(−397T>C), BMP15(−9C>G), MTHFR1(677C>T), MTHFR2(1298A>C), HLA-G(−725C>G), VEGF(+405G>C), TNFα(−308A>G), AMHR

  18. Asthma pharmacogenetics and the development of genetic profiles for personalized medicine

    PubMed Central

    Ortega, Victor E; Meyers, Deborah A; Bleecker, Eugene R

    2015-01-01

    Human genetics research will be critical to the development of genetic profiles for personalized or precision medicine in asthma. Genetic profiles will consist of gene variants that predict individual disease susceptibility and risk for progression, predict which pharmacologic therapies will result in a maximal therapeutic benefit, and predict whether a therapy will result in an adverse response and should be avoided in a given individual. Pharmacogenetic studies of the glucocorticoid, leukotriene, and β2-adrenergic receptor pathways have focused on candidate genes within these pathways and, in addition to a small number of genome-wide association studies, have identified genetic loci associated with therapeutic responsiveness. This review summarizes these pharmacogenetic discoveries and the future of genetic profiles for personalized medicine in asthma. The benefit of a personalized, tailored approach to health care delivery is needed in the development of expensive biologic drugs directed at a specific biologic pathway. Prior pharmacogenetic discoveries, in combination with additional variants identified in future studies, will form the basis for future genetic profiles for personalized tailored approaches to maximize therapeutic benefit for an individual asthmatic while minimizing the risk for adverse events. PMID:25691813

  19. Genetic insights on sleep schedules: this time, it's PERsonal.

    PubMed

    Chong, S Y Christin; Ptáček, Louis J; Fu, Ying-Hui

    2012-12-01

    The study of circadian rhythms is emerging as a fruitful opportunity for understanding cellular mechanisms that govern human physiology and behavior, fueled by evidence directly linking sleep disorders to genetic mutations affecting circadian molecular pathways. Familial advanced sleep-phase disorder (FASPD) is the first recognized Mendelian circadian rhythm trait, and affected individuals exhibit exceptionally early sleep-wake onset due to altered post-translational regulation of period homolog 2 (PER2). Behavioral and cellular circadian rhythms are analogously affected because the circadian period length of behavior is reduced in the absence of environmental time cues, and cycle duration of the molecular clock is likewise shortened. In light of these findings, we review the PER2 dynamics in the context of circadian regulation to reveal the mechanism of sleep-schedule modulation. Understanding PER2 regulation and functionality may shed new light on how our genetic composition can influence our sleep-wake behaviors. PMID:22939700

  20. Sézary Syndrome: Translating Genetic Diversity into Personalized Medicine.

    PubMed

    Chevret, Edith; Merlio, Jean-Philippe

    2016-07-01

    Sézary syndrome is probably the most studied cutaneous T-cell lymphoma subtype. Beyond the consensus criteria for Sézary syndrome diagnosis, Sézary cells display heterogeneous phenotypes and differentiation profiles. In the face of SS diversity, the great hope is to develop targeted therapies based on next-generation sequencing to define the genetic landscape of Sézary syndrome. Prasad et al. report on the use of exome sequencing and RNA sequencing to study selected CD4(+) blood cells from 15 patients with erythroderma Sézary syndrome, 14 of whom fulfilled the conventional criteria for diagnosis. The most common genetic abnormality, TP53 gene deletion on chromosome arm 17p and/or mutation, was observed in 58% of patients. However, mutations affecting PLCG1, STAT5B, GLI3, and CARD11 each were detected in only one individual. Nevertheless, Prasad et al. report single point mutations or copy number alterations in several new genes and in new fusion genes, with predicted biological relevance. This information underscores the diversity of genetic alterations and of the mechanisms of alterations of single genes. At the individual level, Sézary cells may combine alterations of genes involved in T-cell signaling, NF-kB and JAK-signal transducer and activator of transcription pathways, apoptosis control, chromatin remodeling, and DNA damage response. The therapeutic relevance of these potential targets needs to be evaluated with tests of function. PMID:27342034

  1. "Not all my fault": genetics, stigma, and personal responsibility for women with eating disorders.

    PubMed

    Easter, Michele M

    2012-10-01

    Medical researchers and clinicians increasingly understand and present eating disorders (anorexia and bulimia nervosa) as biologically-based psychiatric disorders, with genetic risk factors established by high heritability estimates in twin studies. But there has been no research on interpretation of genetic involvement by people with eating disorders, who may hold other views. Their interpretations are particularly important given the frequent presumption that biogenetic framing will reduce stigma, and recent findings that it exacerbates stigma for other mental illnesses. To identify implications of genetic framing in eating disorders, I conducted semi-structured interviews with 50 US women with a history of eating disorders (half recovered, half in treatment; interviewed 2008-9 in the USA). Interviews introduced the topic of genetics, but not stigma per se. Analysis followed the general principles of grounded theory to identify perceived implications of genetic involvement; those relevant to stigma are reported here. Most anticipated that genetic reframing would help reduce stigma from personal responsibility (i.e., blame and guilt for eating disorder as ongoing choice). A third articulated ways it could add stigma, including novel forms of stigma related to genetic-essentialist effacing of social factors. Despite welcoming reductions in blame and guilt, half also worried genetic framing could hamper recovery, by encouraging fatalistic self-fulfilling prophecies and genetic excuses. This study is the first to elicit perceptions of genetic involvement by those with eating disorders, and contributes to an emerging literature on perceptions of psychiatric genetics by people with mental illness. PMID:22819736

  2. Heritable influences on amygdala and orbitofrontal cortex contribute to genetic variation in core dimensions of personality

    PubMed Central

    Lewis, G.J.; Panizzon, M.S.; Eyler, L.; Fennema-Notestine, C.; Chen, C.-H.; Neale, M.C.; Jernigan, T.L.; Lyons, M.J.; Dale, A.M.; Kremen, W.S.; Franz, C.E.

    2015-01-01

    While many studies have reported that individual differences in personality traits are genetically influenced, the neurobiological bases mediating these influences have not yet been well characterized. To advance understanding concerning the pathway from genetic variation to personality, here we examined whether measures of heritable variation in neuroanatomical size in candidate regions (amygdala and medial orbitofrontal cortex) were associated with heritable effects on personality. A sample of 486 middle-aged (mean = 55 years) male twins (complete MZ pairs = 120; complete DZ pairs = 84) underwent structural brain scans and also completed measures of two core domains of personality: positive and negative emotionality. After adjusting for estimated intracranial volume, significant phenotypic (rp) and genetic (rg) correlations were observed between left amygdala volume and positive emotionality (rp = .16, p < .01; rg = .23, p < .05, respectively). In addition, after adjusting for mean cortical thickness, genetic and nonshared-environmental correlations (re) between left medial orbitofrontal cortex thickness and negative emotionality were also observed (rg = .34, p < .01; re = −.19, p < .05, respectively). These findings support a model positing that heritable bases of personality are, at least in part, mediated through individual differences in the size of brain structures, although further work is still required to confirm this causal interpretation. PMID:25263286

  3. A genetic factor explains most of the variation in the psychopathic personality.

    PubMed

    Larsson, Henrik; Andershed, Henrik; Lichtenstein, Paul

    2006-05-01

    The psychopathic personality can be conceptualized as three interrelated dimensions, (a) an interpersonal style of glibness, grandiosity, and manipulation; (b) an affective disposition of callousness, lack of empathy, and unemotionality; and (c) a behavioral/lifestyle dimension of impulsivity, need for stimulation, and irresponsibility, underpinning a higher order construct, psychopathic personality. The authors used a self-report questionnaire (The Youth Psychopathic Traits Inventory) to study the importance of genetic and environmental influences on psychopathic personality traits in a sample of 1,090 monozygotic and dizygotic twin pairs, aged 16-17 years. Results showed a strong genetic influence behind the higher order "psychopathic personality" factor, underpinned by the three psychopathic personality dimensions. Over and above the effects to the higher order factor, significant unique genetic influences were also found in the callous/unemotional and in the impulsive/irresponsible dimension, but not in the grandiose/manipulative dimension. The authors propose that this latent psychopathic personality factor is a meaningful target for future etiological research. PMID:16737387

  4. A genetic-based algorithm for personalized resistance training

    PubMed Central

    Kiely, J; Suraci, B; Collins, DJ; de Lorenzo, D; Pickering, C; Grimaldi, KA

    2016-01-01

    Association studies have identified dozens of genetic variants linked to training responses and sport-related traits. However, no intervention studies utilizing the idea of personalised training based on athlete's genetic profile have been conducted. Here we propose an algorithm that allows achieving greater results in response to high- or low-intensity resistance training programs by predicting athlete's potential for the development of power and endurance qualities with the panel of 15 performance-associated gene polymorphisms. To develop and validate such an algorithm we performed two studies in independent cohorts of male athletes (study 1: athletes from different sports (n = 28); study 2: soccer players (n = 39)). In both studies athletes completed an eight-week high- or low-intensity resistance training program, which either matched or mismatched their individual genotype. Two variables of explosive power and aerobic fitness, as measured by the countermovement jump (CMJ) and aerobic 3-min cycle test (Aero3) were assessed pre and post 8 weeks of resistance training. In study 1, the athletes from the matched groups (i.e. high-intensity trained with power genotype or low-intensity trained with endurance genotype) significantly increased results in CMJ (P = 0.0005) and Aero3 (P = 0.0004). Whereas, athletes from the mismatched group (i.e. high-intensity trained with endurance genotype or low-intensity trained with power genotype) demonstrated non-significant improvements in CMJ (P = 0.175) and less prominent results in Aero3 (P = 0.0134). In study 2, soccer players from the matched group also demonstrated significantly greater (P < 0.0001) performance changes in both tests compared to the mismatched group. Among non- or low responders of both studies, 82% of athletes (both for CMJ and Aero3) were from the mismatched group (P < 0.0001). Our results indicate that matching the individual's genotype with the appropriate training modality leads to more effective

  5. A genetic-based algorithm for personalized resistance training.

    PubMed

    Jones, N; Kiely, J; Suraci, B; Collins, D J; de Lorenzo, D; Pickering, C; Grimaldi, K A

    2016-06-01

    Association studies have identified dozens of genetic variants linked to training responses and sport-related traits. However, no intervention studies utilizing the idea of personalised training based on athlete's genetic profile have been conducted. Here we propose an algorithm that allows achieving greater results in response to high- or low-intensity resistance training programs by predicting athlete's potential for the development of power and endurance qualities with the panel of 15 performance-associated gene polymorphisms. To develop and validate such an algorithm we performed two studies in independent cohorts of male athletes (study 1: athletes from different sports (n = 28); study 2: soccer players (n = 39)). In both studies athletes completed an eight-week high- or low-intensity resistance training program, which either matched or mismatched their individual genotype. Two variables of explosive power and aerobic fitness, as measured by the countermovement jump (CMJ) and aerobic 3-min cycle test (Aero3) were assessed pre and post 8 weeks of resistance training. In study 1, the athletes from the matched groups (i.e. high-intensity trained with power genotype or low-intensity trained with endurance genotype) significantly increased results in CMJ (P = 0.0005) and Aero3 (P = 0.0004). Whereas, athletes from the mismatched group (i.e. high-intensity trained with endurance genotype or low-intensity trained with power genotype) demonstrated non-significant improvements in CMJ (P = 0.175) and less prominent results in Aero3 (P = 0.0134). In study 2, soccer players from the matched group also demonstrated significantly greater (P < 0.0001) performance changes in both tests compared to the mismatched group. Among non- or low responders of both studies, 82% of athletes (both for CMJ and Aero3) were from the mismatched group (P < 0.0001). Our results indicate that matching the individual's genotype with the appropriate training modality leads to more effective

  6. Heritability of personality: A meta-analysis of behavior genetic studies.

    PubMed

    Vukasović, Tena; Bratko, Denis

    2015-07-01

    The aim of this meta-analysis was to systematize available findings in the field of personality heritability and test for possible moderator effects of study design, type of personality model, and gender on heritability estimates. Study eligibility criteria were: personality model, behavior genetic study design, self-reported data, essential statistical indicators, and independent samples. A total of 134 primary studies with 190 potentially independent effect sizes were identified. After exclusion of studies that did not meet inclusion criteria and/or met 1 of the exclusion criteria, the final sample included 62 independent effect sizes, representing more than 100,000 participants of both genders and all ages. Data analyses were performed using the random-effects model, software program R package metafor. The average effect size was .40, indicating that 40% of individual differences in personality were due to genetic, while 60% are due to environmental influences. After correction for possible publication bias the conclusion was unaltered. Additional analyses showed that personality model and gender were not significant moderators of personality heritability estimate, while study design was a significant moderator with twin studies showing higher estimates, .47, compared to family and adoption studies, .22. Personality model also was not a significant moderator of heritability estimates for neuroticism or extraversion, 2 personality traits contained in most personality trait theories and/or models. This study is the first to empirically test and confirm moderator effect of study design on heritability estimates in the field of personality. Limitations of the study, as well as suggestion for future studies, are discussed. (PsycINFO Database Record PMID:25961374

  7. Personality Mediation of Genetic Effects on Attention-Deficit/Hyperactivity Disorder

    ERIC Educational Resources Information Center

    Martel, Michelle M.; Nikolas, Molly; Jernigan, Katherine; Friderici, Karen; Nigg, Joel T.

    2010-01-01

    Personality traits may be viable candidates for mediators of the relationship between genetic risk and ADHD. Participants were 578 children (331 boys; 320 children with ADHD) between the ages of six and 18. Parents and teachers completed a comprehensive, multi-stage diagnostic procedure to assess ADHD and comorbid disorders. Mother completed the…

  8. Perceptions of genetic counseling services in direct-to-consumer personal genomic testing.

    PubMed

    Darst, B F; Madlensky, L; Schork, N J; Topol, E J; Bloss, C S

    2013-10-01

    To describe consumers' perceptions of genetic counseling services in the context of direct-to-consumer personal genomic testing is the purpose of this research. Utilizing data from the Scripps Genomic Health Initiative, we assessed direct-to-consumer genomic test consumers' utilization and perceptions of genetic counseling services. At long-term follow-up, approximately 14 months post-testing, participants were asked to respond to several items gauging their interactions, if any, with a Navigenics genetic counselor, and their perceptions of those interactions. Out of 1325 individuals who completed long-term follow-up, 187 (14.1%) indicated that they had spoken with a genetic counselor. The most commonly given reason for not utilizing the counseling service was a lack of need due to the perception of already understanding one's results (55.6%). The most common reasons for utilizing the service included wanting to take advantage of a free service (43.9%) and wanting more information on risk calculations (42.2%). Among those who utilized the service, a large fraction reported that counseling improved their understanding of their results (54.5%) and genetics in general (43.9%). A relatively small proportion of participants utilized genetic counseling after direct-to-consumer personal genomic testing. Among those individuals who did utilize the service, however, a large fraction perceived it to be informative, and thus presumably beneficial. PMID:23590221

  9. Genetic and environmental factors underlying comorbid bulimic behaviours and alcohol use disorders: a moderating role for the dysregulated personality cluster?

    PubMed

    Slane, Jennifer D; Klump, Kelly L; McGue, Matthew; Iacono, G

    2014-05-01

    Women with bulimia nervosa (BN) frequently have co-occurring alcohol use disorders (AUDs). Studies of shared genetic transmission of these disorders have been mixed. Personality heterogeneity among individuals with BN may explain discrepant findings. Cluster analysis has characterized women with BN in groups on the basis of personality profiles. One group, the Dysregulated cluster, characterized largely by behavioural disinhibition and emotional dysregulation may be more closely linked etiologically to AUDs. This study examined whether genetic associations between BN and AUDs are the strongest among the Dysregulated cluster. Symptoms of BN and AUDs were assessed in female twins at ages 17 and 25 years from the Minnesota Twin Family Study. Personality clusters were defined using the Multidimensional Personality Questionnaire. Twin moderation models suggested small-to-moderate common genetic transmission between BN and AUDs. However, shared genetic effects did not differ by personality cluster. Findings suggest that personality clusters are unlikely to account for inconsistent findings regarding their shared aetiology. PMID:24616026

  10. Personalized home-based interval exercise training may improve cardiorespiratory fitness in cancer patients preparing to undergo hematopoietic cell transplantation.

    PubMed

    Wood, W A; Phillips, B; Smith-Ryan, A E; Wilson, D; Deal, A M; Bailey, C; Meeneghan, M; Reeve, B B; Basch, E M; Bennett, A V; Shea, T C; Battaglini, C L

    2016-07-01

    Impaired cardiorespiratory fitness is associated with inferior survival in patients preparing to undergo hematopoietic cell transplantation (HCT). Exercise training based on short, higher intensity intervals has the potential to efficiently improve cardiorespiratory fitness. We studied home-based interval exercise training (IET) in 40 patients before autologous (N=20) or allogeneic (N=20) HCT. Each session consisted of five, 3 min intervals of walking, jogging or cycling at 65-95% maximal heart rate (MHR) with 3 min of low-intensity exercise (<65% MHR) between intervals. Participants were asked to perform sessions at least three times weekly. The duration of the intervention was at least 6 weeks, depending on each patient's scheduled transplantation date. Cardiorespiratory fitness was assessed from a peak oxygen consumption test (VO2peak) and a 6 min walk (6MWD) before and after the intervention period. For the autologous HCT cohort, improvements in VO2peak (P=0.12) and 6MWD (P=0.19) were not statistically significant. For the allogeneic cohort, the median VO2peak improvement was 3.7 ml/kg min (P=0.005) and the median 6MWD improvement was 34 m (P=0.006). Home-based IET can be performed before HCT and has the potential to improve cardiorespiratory fitness. PMID:26999467

  11. Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

    PubMed Central

    Weitzel, Jeffrey N.; Clague, Jessica; Martir-Negron, Arelis; Ogaz, Raquel; Herzog, Josef; Ricker, Charité; Jungbluth, Chelsy; Cina, Cheryl; Duncan, Paul; Unzeitig, Gary; Saldivar, J. Salvador; Beattie, Mary; Feldman, Nancy; Sand, Sharon; Port, Danielle; Barragan, Deborah I.; John, Esther M.; Neuhausen, Susan L.; Larson, Garrett P.

    2013-01-01

    Purpose To determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA). Patients and Methods Hispanics (n = 746) with a personal or family history of breast and/or ovarian cancer were enrolled in an institutional review board–approved registry and received GCRA and BRCA testing within a consortium of 14 clinics. Population-based Hispanic breast cancer cases (n = 492) enrolled in the Northern California Breast Cancer Family Registry, negative by sequencing for BRCA mutations, were analyzed for the presence of the BRCA1 ex9-12del large rearrangement. Results Deleterious BRCA mutations were detected in 189 (25%) of 746 familial clinic patients (124 BRCA1, 65 BRCA2); 21 (11%) of 189 were large rearrangement mutations, of which 62% (13 of 21) were BRCA1 ex9-12del. Nine recurrent mutations accounted for 53% of the total. Among these, BRCA1 ex9-12del seems to be a Mexican founder mutation and represents 10% to 12% of all BRCA1 mutations in clinic- and population-based cohorts in the United States. Conclusion BRCA mutations were prevalent in the largest study of Hispanic breast and/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA. PMID:23233716

  12. Discriminatory power of common genetic variants in personalized breast cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Wu, Yirong; Abbey, Craig K.; Liu, Jie; Ong, Irene; Peissig, Peggy; Onitilo, Adedayo A.; Fan, Jun; Yuan, Ming; Burnside, Elizabeth S.

    2016-03-01

    Technology advances in genome-wide association studies (GWAS) has engendered optimism that we have entered a new age of precision medicine, in which the risk of breast cancer can be predicted on the basis of a person's genetic variants. The goal of this study is to evaluate the discriminatory power of common genetic variants in breast cancer risk estimation. We conducted a retrospective case-control study drawing from an existing personalized medicine data repository. We collected variables that predict breast cancer risk: 153 high-frequency/low-penetrance genetic variants, reflecting the state-of-the-art GWAS on breast cancer, mammography descriptors and BI-RADS assessment categories in the Breast Imaging Reporting and Data System (BI-RADS) lexicon. We trained and tested naïve Bayes models by using these predictive variables. We generated ROC curves and used the area under the ROC curve (AUC) to quantify predictive performance. We found that genetic variants achieved comparable predictive performance to BI-RADS assessment categories in terms of AUC (0.650 vs. 0.659, p-value = 0.742), but significantly lower predictive performance than the combination of BI-RADS assessment categories and mammography descriptors (0.650 vs. 0.751, p-value < 0.001). A better understanding of relative predictive capability of genetic variants and mammography data may benefit clinicians and patients to make appropriate decisions about breast cancer screening, prevention, and treatment in the era of precision medicine.

  13. Between personal and relational privacy: understanding the work of informed consent in cancer genetics in Brazil.

    PubMed

    Goldim, José Roberto; Gibbon, Sahra

    2015-07-01

    Drawing from perspectives of both bioethics and anthropology, this article explores how the boundaries between personal and relational privacy are negotiated by patients and practitioners in the context of an emerging domain of cancer genetics in Brazil. It reflects on the place of informed consent in the history of bioethics in North America in contrast to the development of bioethics in Brazil and the particular social cultural context in which consent is sought in Brazilian public health care. Making use of empirical research with families and individuals receiving genetic counselling related to increased genetic risk for cancer, in genetic clinics in southern Brazil, it examines how informed consent is linked to the necessary movement between personal and relational privacy. The paper illustrates the value of a particular tool known as a 'sociogram' to examine the complex interpersonal dynamics that arise in negotiating informed consent at the interface between the family and the individual in Brazil. The paper, therefore, points to the scope of further interdisciplinary exchanges between anthropology and bioethics, confronting the new challenges that arise in the context of medical genetics in developing country. PMID:25998783

  14. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine

    PubMed Central

    Michmerhuizen, Nicole L.; Birkeland, Andrew C.; Bradford, Carol R.; Brenner, J. Chad

    2016-01-01

    While sequencing studies have provided an improved understanding of the genetic landscape of head and neck squamous cell carcinomas (HNSCC), there remains a significant lack of genetic data derived from non-Caucasian cohorts. Additionally, there is wide variation in HNSCC incidence and mortality worldwide both between and within various geographic regions. These epidemiologic differences are in part accounted for by varying exposure to environmental risk factors such as tobacco, alcohol, high risk human papilloma viruses and betel quid. However, inherent genetic factors may also play an important role in this variability. As limited sequencing data is available for many populations, the involvement of unique genetic factors in HNSCC pathogenesis from epidemiologically diverse groups is unknown. Here, we review current knowledge about the epidemiologic, environmental, and genetic variation in HNSCC cohorts globally and discuss future studies necessary to further our understanding of these differences. Long-term, a more complete understanding of the genetic drivers found in diverse HNSCC cohorts may help the development of personalized medicine protocols for patients with rare or complex genetic events. PMID:27551333

  15. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine.

    PubMed

    Michmerhuizen, Nicole L; Birkeland, Andrew C; Bradford, Carol R; Brenner, J Chad

    2016-05-01

    While sequencing studies have provided an improved understanding of the genetic landscape of head and neck squamous cell carcinomas (HNSCC), there remains a significant lack of genetic data derived from non-Caucasian cohorts. Additionally, there is wide variation in HNSCC incidence and mortality worldwide both between and within various geographic regions. These epidemiologic differences are in part accounted for by varying exposure to environmental risk factors such as tobacco, alcohol, high risk human papilloma viruses and betel quid. However, inherent genetic factors may also play an important role in this variability. As limited sequencing data is available for many populations, the involvement of unique genetic factors in HNSCC pathogenesis from epidemiologically diverse groups is unknown. Here, we review current knowledge about the epidemiologic, environmental, and genetic variation in HNSCC cohorts globally and discuss future studies necessary to further our understanding of these differences. Long-term, a more complete understanding of the genetic drivers found in diverse HNSCC cohorts may help the development of personalized medicine protocols for patients with rare or complex genetic events. PMID:27551333

  16. Invited commentary: Personality phenotype and mortality--new avenues in genetic, social, and clinical epidemiology.

    PubMed

    Chapman, Benjamin P

    2013-09-01

    In this issue of the Journal, Jokela et al. (Am J Epidemiol. 2013;178(5):667-675) scrutinize the association between personality phenotype and all-cause mortality in remarkable detail by using an "individual-participant meta-analysis" design. Across 7 large cohorts varying in demographics and methods of personality measurement, they find varying prospective associations for 4 dimensions of the five-factor (or "Big Five") model of personality, but robust and consistent prospective associations for Big Five dimension of "conscientiousness." Jokela et al. place an important exclamation point on a long era of study of this topic and hint directly and indirectly at new avenues for this line of research. I consider the following 3 areas particularly rife for further inquiry: the role of genetics in personality and health studies; the role of personality in social inequalities in health; and the health policy and clinical implications of work like that of Jokela et al., including the potential role of personality phenotype in the evolution of personalized medicine. PMID:23911611

  17. Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing

    PubMed Central

    Carere, Deanna Alexis; Kraft, Peter; Kaphingst, Kimberly A.; Roberts, J. Scott; Green, Robert C.

    2015-01-01

    Purpose To measure changes to genetics knowledge and self-efficacy following personal genomic testing (PGT). Methods New customers of 23andMe and Pathway Genomics completed a series of online surveys. Prior to receipt of results, and 6 months post-results, we measured genetics knowledge (9 true/false items) and genetics self-efficacy (5 Likert-scale items) and used paired methods to evaluate change over time. Correlates of change (e.g., decision regret) were identified using linear regression. Results 998 PGT customers (59.9% female; 85.8% White; mean age 46.9±15.5 years) were included in our analyses. Mean genetics knowledge score out of 9 was 8.15±0.95 at baseline and 8.25±0.92 at 6 months (p = .0024). Mean self-efficacy score out of 35 was 29.06±5.59 at baseline and 27.7±5.46 at 6 months (p < .0001); on each item, 30–45% of participants reported lower self-efficacy following PGT. Change in self-efficacy was positively associated with health care provider consultation (p = .0042), impact of PGT on perceived control over one’s health (p < .0001), and perceived value of PGT (p < .0001), and negatively associated with decision regret (p < .0001). Conclusion Lowered genetics self-efficacy following PGT may reflect an appropriate reevaluation by consumers in response to receiving complex genetic information. PMID:25812042

  18. The contribution of genetics and early rearing experiences to hierarchical personality dimensions in chimpanzees (Pan troglodytes).

    PubMed

    Latzman, Robert D; Freeman, Hani D; Schapiro, Steven J; Hopkins, William D

    2015-11-01

    A reliable literature finds that traits are related to each other in an organized hierarchy encompassing various conceptualizations of personality (e.g., Big Three, five-factor model). Recent work suggests the potential of a similar organization among our closest nonhuman relative, chimpanzees (Pan troglodytes), with significant links to neurobiology suggesting an evolutionarily and neurobiologically based hierarchical structure of personality. The current study investigated this hierarchical structure, the heritability of the various personality dimensions across levels of the hierarchy, and associations with early social rearing experience in a large sample (N = 238) of socially housed, captive chimpanzees residing in 2 independent colonies of apes. Results provide support for a hierarchical structure of personality in chimpanzees with significant associations with early rearing experiences. Further, heritabilities of the various dimensions varied by early rearing, with affective dimensions found to be significantly heritable among mother-reared apes, whereas personality dimensions were largely independent of relatedness among the nursery-reared apes. Taken together, these findings provide evidence for the influence of both genetic and environmental factors on personality profiles across levels of the hierarchy, supporting the importance of considering environmental variation in models of quantitative trait evolution. PMID:25915132

  19. The contribution of genetics and early rearing experiences to hierarchical personality dimensions in chimpanzees (Pan troglodytes)

    PubMed Central

    Latzman, Robert D.; Freeman, Hani D.; Schapiro, Steven J.; Hopkins, William D.

    2015-01-01

    A reliable literature finds that traits are related to each other in an organized hierarchy encompassing various conceptualizations of personality (e.g., Big Three, Five Factor Model). Recent work suggests the potential of a similar organization among our closest nonhuman relative, chimpanzees (Pan troglodytes), with significant links to neurobiology suggesting an evolutionarily- and neurobiologically-based hierarchical structure of personality. The current study investigated this hierarchical structure, the heritability of the various personality dimensions across levels of the hierarchy, and associations with early social rearing experience in a large sample (N = 238) of socially-housed, captive chimpanzees residing in two independent colonies of apes. Results provide support for a hierarchical structure of personality in chimpanzees with significant associations with early rearing experiences. Further, heritabilities of the various dimensions varied by early rearing, with affective dimensions found to be significantly heritable among mother-reared apes, while personality dimensions were largely independent of relatedness among the nursery-reared apes. Taken together, these findings provide evidence for the influence of both genetic and environmental factors on personality profiles across levels of the hierarchy, supporting the importance of considering environmental variation in models of quantitative trait evolution. PMID:25915132

  20. Commentary on Zohar's "Prospects for 'genetic therapy' -- can a person benefit from being altered?

    PubMed

    Kahn, Jeffrey P

    1991-10-01

    In his paper on the effects of Prenatal Genetic Intervention (PGI) on personal identity, Noam Zohar comes to a conclusion about genetic makeup and the uses of gene therapy quite different from the one I reach in another piece in this issue. Zohar's argument rests on the contention that personal identity changes with alteration of the genome, following what I have identified as the "constitutive" view. To see that this is the pillar supporting the weight of his argument, consider the following. Questions of identity aside, how can it be that altering the genome of children suffering from Lesch-Nyhan syndrome or Tay-Sachs disease so that they now produce the enzyme that they formerly lacked does not benefit them? Clearly, if their identities were not changed, such individuals would in fact realize great benefit from PGI, since the devastating bad effects of the genetic flaw would be avoided. Such a change would certainly make the altered individuals better off, that is, it would benefit them. On this, Zohar and I do not disagree. Persistence of identity through such genetic change is the sticking point. PMID:11653951

  1. Genetic influences on response to novel objects and dimensions of personality in Papio baboons.

    PubMed

    Johnson, Zachary; Brent, Linda; Alvarenga, Juan Carlos; Comuzzie, Anthony G; Shelledy, Wendy; Ramirez, Stephanie; Cox, Laura; Mahaney, Michael C; Huang, Yung-Yu; Mann, J John; Kaplan, Jay R; Rogers, Jeffrey

    2015-03-01

    Behavioral variation within and between populations and species of the genus Papio has been studied extensively, but little is known about the genetic causes of individual- or population-level differences. This study investigates the influence of genetic variation on personality (sometimes referred to as temperament) in baboons and identifies a candidate gene partially responsible for the variation in that phenotype. To accomplish these goals, we examined individual variation in response to both novel objects and an apparent novel social partner (using a mirror test) among pedigreed baboons (n = 578) from the Southwest National Primate Research Center. We investigated the frequency and duration of individual behaviors in response to novel objects and used multivariate factor analysis to identify trait-like dimensions of personality. Exploratory factor analysis identified two distinct dimensions of personality within this population. Factor 1 accounts for 46.8 % of the variance within the behavioral matrix, and consists primarily of behaviors related to the "boldness" of the subject. Factor 2 accounts for 18.8 % of the variation, and contains several "anxiety" like behaviors. Several specific behaviors, and the two personality factors, were significantly heritable, with the factors showing higher heritability than most individual behaviors. Subsequent analyses show that the behavioral reactions observed in the test protocol are associated with animals' social behavior observed later in their home social groups. Finally we used linkage analysis to map quantitative trait loci for the measured phenotypes. Single nucleotide polymorphisms in a positional candidate gene (SNAP25) are associated with variation in one of the personality factors, and CSF levels of homovanillic acid and 3-methoxy-4-hydroxyphenylglycol. This study documents heritable variation in personality among baboons and suggests that sequence variation in SNAP25 may influence differences in behavior and

  2. Discriminatory power of common genetic variants in personalized breast cancer diagnosis

    PubMed Central

    Wu, Yirong; Abbey, Craig K.; Liu, Jie; Ong, Irene; Peissig, Peggy; Onitilo, Adedayo A.; Fan, Jun; Yuan, Ming; Burnside, Elizabeth S.

    2016-01-01

    Technology advances in genome-wide association studies (GWAS) has engendered optimism that we have entered a new age of precision medicine, in which the risk of breast cancer can be predicted on the basis of a person’s genetic variants. The goal of this study is to evaluate the discriminatory power of common genetic variants in breast cancer risk estimation. We conducted a retrospective case-control study drawing from an existing personalized medicine data repository. We collected variables that predict breast cancer risk: 153 high-frequency/low-penetrance genetic variants, reflecting the state-of-the-art GWAS on breast cancer, mammography descriptors and BI-RADS assessment categories in the Breast Imaging Reporting and Data System (BI-RADS) lexicon. We trained and tested naïve Bayes models by using these predictive variables. We generated ROC curves and used the area under the ROC curve (AUC) to quantify predictive performance. We found that genetic variants achieved comparable predictive performance to BI-RADS assessment categories in terms of AUC (0.650 vs. 0.659, p-value = 0.742), but significantly lower predictive performance than the combination of BI-RADS assessment categories and mammography descriptors (0.650 vs. 0.751, p-value < 0.001). A better understanding of relative predictive capability of genetic variants and mammography data may benefit clinicians and patients to make appropriate decisions about breast cancer screening, prevention, and treatment in the era of precision medicine.

  3. Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.

    PubMed

    Ortega, Victor E; Meyers, Deborah A

    2014-01-01

    Pharmacogenetics is being used to develop personalized therapies specific to subjects from different ethnic or racial groups. To date, pharmacogenetic studies have been primarily performed in trial cohorts consisting of non-Hispanic white subjects of European descent. A "bottleneck" or collapse of genetic diversity associated with the first human colonization of Europe during the Upper Paleolithic period, followed by the recent mixing of African, European, and Native American ancestries, has resulted in different ethnic groups with varying degrees of genetic diversity. Differences in genetic ancestry might introduce genetic variation, which has the potential to alter the therapeutic efficacy of commonly used asthma therapies, such as β2-adrenergic receptor agonists (β-agonists). Pharmacogenetic studies of admixed ethnic groups have been limited to small candidate gene association studies, of which the best example is the gene coding for the receptor target of β-agonist therapy, the β2-adrenergic receptor (ADRB2). Large consortium-based sequencing studies are using next-generation whole-genome sequencing to provide a diverse genome map of different admixed populations, which can be used for future pharmacogenetic studies. These studies will include candidate gene studies, genome-wide association studies, and whole-genome admixture-based approaches that account for ancestral genetic structure, complex haplotypes, gene-gene interactions, and rare variants to detect and replicate novel pharmacogenetic loci. PMID:24369795

  4. Pharmacogenetics: Implications of Race and Ethnicity on Defining Genetic Profiles for Personalized Medicine

    PubMed Central

    Ortega, Victor E.; Meyers, Deborah A.

    2014-01-01

    Pharmacogenetics is being used to develop personalized therapies specific to individuals from different ethnic or racial groups. Pharmacogenetic studies to date have been primarily performed in trial cohorts consisting of non-Hispanic whites of European descent. A “bottleneck” or collapse of genetic diversity associated with the first human colonization of Europe during the Upper Paleolithic period, followed by the recent mixing of African, European, and Native American ancestries has resulted in different ethnic groups with varying degrees of genetic diversity. Differences in genetic ancestry may introduce genetic variation which has the potential to alter the therapeutic efficacy of commonly used asthma therapies, for example β2-adrenergic receptor agonists (beta agonists). Pharmacogenetic studies of admixed ethnic groups have been limited to small candidate gene association studies of which the best example is the gene coding for the receptor target of beta agonist therapy, ADRB2. Large consortium-based sequencing studies are using next-generation whole-genome sequencing to provide a diverse genome map of different admixed populations which can be used for future pharmacogenetic studies. These studies will include candidate gene studies, genome-wide association studies, and whole-genome admixture-based approaches which account for ancestral genetic structure, complex haplotypes, gene-gene interactions, and rare variants to detect and replicate novel pharmacogenetic loci. PMID:24369795

  5. Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients.

    PubMed

    Goulielmos, George N; Zervou, Maria I; Myrthianou, Effie; Burska, Agata; Niewold, Timothy B; Ponchel, Frederique

    2016-06-01

    Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients. PMID:26869316

  6. The nature of creativity: The roles of genetic factors, personality traits, cognitive abilities, and environmental sources.

    PubMed

    Kandler, Christian; Riemann, Rainer; Angleitner, Alois; Spinath, Frank M; Borkenau, Peter; Penke, Lars

    2016-08-01

    This multitrait multimethod twin study examined the structure and sources of individual differences in creativity. According to different theoretical and metrological perspectives, as well as suggestions based on previous research, we expected 2 aspects of individual differences, which can be described as perceived creativity and creative test performance. We hypothesized that perceived creativity, reflecting typical creative thinking and behavior, should be linked to specific personality traits, whereas test creativity, reflecting maximum task-related creative performance, should show specific associations with cognitive abilities. Moreover, we tested whether genetic variance in intelligence and personality traits account for the genetic component of creativity. Multiple-rater and multimethod data (self- and peer reports, observer ratings, and test scores) from 2 German twin studies-the Bielefeld Longitudinal Study of Adult Twins and the German Observational Study of Adult Twins-were analyzed. Confirmatory factor analyses yielded the expected 2 correlated aspects of creativity. Perceived creativity showed links to openness to experience and extraversion, whereas tested figural creativity was associated with intelligence and also with openness. Multivariate behavioral genetic analyses indicated that the heritability of tested figural creativity could be accounted for by the genetic component of intelligence and openness, whereas a substantial genetic component in perceived creativity could not be explained. A primary source of individual differences in creativity was due to environmental influences, even after controlling for random error and method variance. The findings are discussed in terms of the multifaceted nature and construct validity of creativity as an individual characteristic. (PsycINFO Database Record PMID:26796983

  7. Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues

    PubMed Central

    Ormond, Kelly E; Cho, Mildred K

    2014-01-01

    The integration of new genetic technologies into clinical practice holds great promise for the personalization of medical care, particularly the use of large-scale DNA sequencing for genome-wide genetic testing. However, these technologies also yield unprecedented amounts of information whose clinical implications are not fully understood, and we are still developing technical standards for measuring sequence accuracy. These technical and clinical challenges raise ethical issues that are similar to but qualitatively different from those that we are accustomed to dealing with for traditional medical genetics. The sheer amount of information afforded by genome sequencing requires rethinking of how to implement core ethical principles including, but not limited to: informed consent, privacy and data ownership and sharing, technology regulation, issues of access, particularly as new technology is integrated into clinical practice, and issues of potential stigma and impact on perceptions of disability. In this article, we will review the issues of informed consent, privacy, data ownership and technology regulation as they relate to the emerging field of personalized medicine and genomics. PMID:25221608

  8. Genetic variation in MAOA modulates ventromedial prefrontal circuitry mediating individual differences in human personality.

    PubMed

    Buckholtz, J W; Callicott, J H; Kolachana, B; Hariri, A R; Goldberg, T E; Genderson, M; Egan, M F; Mattay, V S; Weinberger, D R; Meyer-Lindenberg, A

    2008-03-01

    Little is known about neural mechanisms underlying human personality and temperament, despite their considerable importance as highly heritable risk mediators for somatic and psychiatric disorders. To identify these circuits, we used a combined genetic and imaging approach focused on Monoamine Oxidase A (MAOA), encoding a key enzyme for monoamine metabolism previously associated with temperament and antisocial behavior. Male carriers of a low-expressing genetic variant exhibited dysregulated amygdala activation and increased functional coupling with ventromedial prefrontal cortex (vmPFC). Stronger coupling predicted increased harm avoidance and decreased reward dependence scores, suggesting that this circuitry mediates a part of the association of MAOA with these traits. We utilized path analysis to parse the effective connectivity within this system, and provide evidence that vmPFC regulates amygdala indirectly by influencing rostral cingulate cortex function. Our data implicate a neural circuit for variation in human personality under genetic control, provide an anatomically consistent mechanism for vmPFC-amygdala interactions underlying this variation, and suggest a role for vmPFC as a superordinate regulatory area for emotional arousal and social behavior. PMID:17519928

  9. Genetic enhancement, post-persons and moral status: a reply to Buchanan.

    PubMed

    DeGrazia, David

    2012-03-01

    Responding to several leading ideas from a paper by Allen Buchanan, the present essay explores the implications of genetic enhancement for moral status. Contrary to doubts expressed by Buchanan, I argue that genetic enhancement could lead to the existence of beings so superior to contemporary human beings that we might aptly describe them as post-persons. If such post-persons emerged, how should we understand their moral status in relation to ours? The answer depends in part on which of two general models of moral status--one based on respect and one based on interests--is more adequate. Buchanan tentatively argues that a respect-based model is preferable. I challenge Buchanan's view, along these lines: If we embrace a respect-based model of moral status featuring a threshold that divides persons, who are thought to have full and equal moral status, from sentient nonpersons, thought to have less moral status, then we should acknowledge a second threshold and a level of moral status higher than ours. A better option, I tentatively suggest, is to drop the idea of levels of moral status, accept that all sentient beings have moral status, and allow that some differences in interests and capacities justify some significant differences in how we should treat beings of different kinds. PMID:22074771

  10. On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children

    PubMed Central

    Peshkin, Beth N.; DeMarco, Tiffani A.; Tercyak, Kenneth P.

    2013-01-01

    Parent communication of BRCA1/2 test results to minor-age children is an important, yet understudied, clinical issue that is commonly raised in the management of familial cancer risk. Genetic counseling professionals and others who work with parents undergoing this form of testing often confront questions about the risks/benefits and timing of such disclosures, as well as the psychosocial impact of disclosure and nondisclosure on children’s health and development. This paper briefly reviews literature on the prevalence and outcome of parent-child communication surrounding maternal BRCA1/2 test results. It also describes a formative research process that was used to develop a decision support intervention for mothers participating in genetic counseling and testing for BRCA1/2 mutations to address this issue, and highlights the conceptual underpinnings that guided and informed the intervention’s development. The intervention consists of a print-based decision aid to facilitate parent education and counseling regarding if, when, and potentially how to disclose hereditary cancer risk information to children. We conclude with a summary of the role of social, behavioral, and decision science research to support the efforts of providers of familial cancer care regarding this important decision, and to improve the outcomes of cancer genetic testing for tested parents and their nontested children. PMID:19609726

  11. Translating genetic discoveries to improvements in cardiovascular care: the path to personalized medicine.

    PubMed

    Hall, Jennifer L

    2008-03-01

    Research and development has provided us with several solutions to reduce morbidity and mortality of cardiovascular disease. More solutions are anticipated in the areas of clinical medicine, personal handheld devices, and DNA technology that will continue to enhance the era of personalized medicine. Genome-wide association studies have recently identified genetic variants on chromosome 9 (interval 9p21) and chromosome 4 (4q25) that confer increased risk for myocardial infarction and atrial fibrillation, respectively. The regions on these chromosomes containing the SNPs associated with disease contain no known genes - creating a challenge for scientists. Unraveling the code on these chromosomes may reveal a deeper insight into the mechanisms underlying disease and the design of new therapeutics to prevent or slow the progression of the disease. PMID:20559956

  12. Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders

    PubMed Central

    Ronconi, Elisa; Angelotti, Maria Lucia; Peired, Anna; Mazzinghi, Benedetta; Becherucci, Francesca; Conti, Sara; Sansavini, Giulia; Sisti, Alessandro; Ravaglia, Fiammetta; Lombardi, Duccio; Provenzano, Aldesia; Manonelles, Anna; Cruzado, Josep M.; Giglio, Sabrina; Roperto, Rosa Maria; Materassi, Marco; Lasagni, Laura

    2015-01-01

    The critical role of genetic and epigenetic factors in the pathogenesis of kidney disorders is gradually becoming clear, and the need for disease models that recapitulate human kidney disorders in a personalized manner is paramount. In this study, we describe a method to select and amplify renal progenitor cultures from the urine of patients with kidney disorders. Urine-derived human renal progenitors exhibited phenotype and functional properties identical to those purified from kidney tissue, including the capacity to differentiate into tubular cells and podocytes, as demonstrated by confocal microscopy, Western blot analysis of podocyte-specific proteins, and scanning electron microscopy. Lineage tracing studies performed with conditional transgenic mice, in which podocytes are irreversibly tagged upon tamoxifen treatment (NPHS2.iCreER;mT/mG), that were subjected to doxorubicin nephropathy demonstrated that renal progenitors are the only urinary cell population that can be amplified in long-term culture. To validate the use of these cells for personalized modeling of kidney disorders, renal progenitors were obtained from (1) the urine of children with nephrotic syndrome and carrying potentially pathogenic mutations in genes encoding for podocyte proteins and (2) the urine of children without genetic alterations, as validated by next-generation sequencing. Renal progenitors obtained from patients carrying pathogenic mutations generated podocytes that exhibited an abnormal cytoskeleton structure and functional abnormalities compared with those obtained from patients with proteinuria but without genetic mutations. The results of this study demonstrate that urine-derived patient-specific renal progenitor cultures may be an innovative research tool for modeling of genetic kidney disorders. PMID:25568173

  13. Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

    PubMed

    Lazzeri, Elena; Ronconi, Elisa; Angelotti, Maria Lucia; Peired, Anna; Mazzinghi, Benedetta; Becherucci, Francesca; Conti, Sara; Sansavini, Giulia; Sisti, Alessandro; Ravaglia, Fiammetta; Lombardi, Duccio; Provenzano, Aldesia; Manonelles, Anna; Cruzado, Josep M; Giglio, Sabrina; Roperto, Rosa Maria; Materassi, Marco; Lasagni, Laura; Romagnani, Paola

    2015-08-01

    The critical role of genetic and epigenetic factors in the pathogenesis of kidney disorders is gradually becoming clear, and the need for disease models that recapitulate human kidney disorders in a personalized manner is paramount. In this study, we describe a method to select and amplify renal progenitor cultures from the urine of patients with kidney disorders. Urine-derived human renal progenitors exhibited phenotype and functional properties identical to those purified from kidney tissue, including the capacity to differentiate into tubular cells and podocytes, as demonstrated by confocal microscopy, Western blot analysis of podocyte-specific proteins, and scanning electron microscopy. Lineage tracing studies performed with conditional transgenic mice, in which podocytes are irreversibly tagged upon tamoxifen treatment (NPHS2.iCreER;mT/mG), that were subjected to doxorubicin nephropathy demonstrated that renal progenitors are the only urinary cell population that can be amplified in long-term culture. To validate the use of these cells for personalized modeling of kidney disorders, renal progenitors were obtained from (1) the urine of children with nephrotic syndrome and carrying potentially pathogenic mutations in genes encoding for podocyte proteins and (2) the urine of children without genetic alterations, as validated by next-generation sequencing. Renal progenitors obtained from patients carrying pathogenic mutations generated podocytes that exhibited an abnormal cytoskeleton structure and functional abnormalities compared with those obtained from patients with proteinuria but without genetic mutations. The results of this study demonstrate that urine-derived patient-specific renal progenitor cultures may be an innovative research tool for modeling of genetic kidney disorders. PMID:25568173

  14. Do personality traits moderate the manifestation of type 2 diabetes genetic risk?☆

    PubMed Central

    Čukić, Iva; Mõttus, René; Luciano, Michelle; Starr, John M; Weiss, Alexander; Deary, Ian J

    2015-01-01

    Objective. To test whether personality traits moderate type 2 diabetes (T2D) genetic risk. Methods. Using a large community-dwelling sample (n = 837, Mage = 69.59 ± 0.85 years, 49% males) we fitted a series of linear regression models predicting glycated haemoglobin (HbA1c) from T2D polygenic risk — aggregation of small individual effects of a large number of single nucleotide polymorphisms (SNPs) — and five personality traits. We tested the main effects of personality traits and their interactions with T2D polygenic risk score, controlling for age and sex. The models in the final set were adjusted for cognitive ability, highest educational qualification, and occupational class. Results. Lower levels of openness were associated with heightened levels of HbA1c (β = − 0.014, p = .032). There was a significant interaction between T2D polygenic risk score and agreeableness: lower agreeableness was related to a stronger association between T2D polygenic risk and HbA1c (β = − 0.08, p = .021). In the model adjusted for cognitive ability, the main effect of openness was not significant (β = − 0.08, p = .057). The interaction between agreeableness and T2D polygenic risk was still present after controlling for cognitive ability and socioeconomic status indicators, and the interaction between conscientiousness and polygenic risk score was also significant: lower conscientiousness was associated with a stronger association between T2D polygenic risk and HbA1c levels (β = 0.09, p = .04). Conclusions. Personality may be associated with markers of diabetes, and may moderate the expression of its genetic risk. PMID:26213352

  15. Plasmacytoid, conventional, and monocyte-derived dendritic cells undergo a profound and convergent genetic reprogramming during their maturation

    PubMed Central

    Vu Manh, Thien-Phong; Alexandre, Yannick; Baranek, Thomas; Crozat, Karine; Dalod, Marc

    2013-01-01

    DCs express receptors sensing microbial, danger or cytokine signals, which when triggered in combination drive DC maturation and functional polarization. Maturation was proposed to result from a discrete number of modifications in conventional DCs (cDCs), in contrast to a cell-fate conversion in plasmacytoid DCs (pDCs). cDC maturation is generally assessed by measuring cytokine production and membrane expression of MHC class II and co-stimulation molecules. pDC maturation complexity was demonstrated by functional genomics. Here, pDCs and cDCs were shown to undergo profound and convergent changes in their gene expression programs in vivo during viral infection. This observation was generalized to other stimulation conditions and DC subsets, by public microarray data analyses, PCR confirmation of selected gene expression profiles, and gene regulatory sequence bioinformatics analyses. Thus, maturation is a complex process similarly reshaping all DC subsets, including through the induction of a core set of NF-κB- or IFN-stimulated genes irrespective of stimuli. PMID:23553052

  16. Heritability and genetic correlations of personality traits in a wild population of yellow-bellied marmots (Marmota flaviventris).

    PubMed

    Petelle, M B; Martin, J G A; Blumstein, D T

    2015-10-01

    Describing and quantifying animal personality is now an integral part of behavioural studies because individually distinctive behaviours have ecological and evolutionary consequences. Yet, to fully understand how personality traits may respond to selection, one must understand the underlying heritability and genetic correlations between traits. Previous studies have reported a moderate degree of heritability of personality traits, but few of these studies have either been conducted in the wild or estimated the genetic correlations between personality traits. Estimating the additive genetic variance and covariance in the wild is crucial to understand the evolutionary potential of behavioural traits. Enhanced environmental variation could reduce heritability and genetic correlations, thus leading to different evolutionary predictions. We estimated the additive genetic variance and covariance of docility in the trap, sociability (mirror image stimulation), and exploration and activity in two different contexts (open-field and mirror image simulation experiments) in a wild population of yellow-bellied marmots (Marmota flaviventris). We estimated both heritability of behaviours and of personality traits and found nonzero additive genetic variance in these traits. We also found nonzero maternal, permanent environment and year effects. Finally, we found four phenotypic correlations between traits, and one positive genetic correlation between activity in the open-field test and sociability. We also found permanent environment correlations between activity in both tests and docility and exploration in the MIS test. This is one of a handful of studies to adopt a quantitative genetic approach to explain variation in personality traits in the wild and, thus, provides important insights into the potential variance available for selection. PMID:26214760

  17. Personalized preventive medicine: genetics and the response to regular exercise in preventive interventions.

    PubMed

    Bouchard, Claude; Antunes-Correa, Ligia M; Ashley, Euan A; Franklin, Nina; Hwang, Paul M; Mattsson, C Mikael; Negrao, Carlos E; Phillips, Shane A; Sarzynski, Mark A; Wang, Ping-Yuan; Wheeler, Matthew T

    2015-01-01

    Regular exercise and a physically active lifestyle have favorable effects on health. Several issues related to this theme are addressed in this report. A comment on the requirements of personalized exercise medicine and in-depth biological profiling along with the opportunities that they offer is presented. This is followed by a brief overview of the evidence for the contributions of genetic differences to the ability to benefit from regular exercise. Subsequently, studies showing that mutations in TP53 influence exercise capacity in mice and humans are succinctly described. The evidence for effects of exercise on endothelial function in health and disease also is covered. Finally, changes in cardiac and skeletal muscle in response to exercise and their implications for patients with cardiac disease are summarized. Innovative research strategies are needed to define the molecular mechanisms involved in adaptation to exercise and to translate them into useful clinical and public health applications. PMID:25559061

  18. Cancer Subclonal Genetic Architecture as a Key to Personalized Medicine1

    PubMed Central

    Rehemtulla, Alnawaz

    2013-01-01

    The future of personalized oncological therapy will likely rely on evidence-based medicine to integrate all of the available evidence to delineate the most efficacious treatment option for the patient. To undertake evidence-based medicine through use of targeted therapy regimens, identification of the specific underlying causative mutation(s) driving growth and progression of a patient's tumor is imperative. Although molecular subtyping is important for planning and treatment, intraclonal genetic diversity has been recently highlighted as having significant implications for biopsy-based prognosis. Overall, delineation of the clonal architecture of a patient's cancer and how this will impact on the selection of the most efficacious therapy remain a topic of intense interest. PMID:24403863

  19. From animal models to human disease: a genetic approach for personalized medicine in ALS.

    PubMed

    Picher-Martel, Vincent; Valdmanis, Paul N; Gould, Peter V; Julien, Jean-Pierre; Dupré, Nicolas

    2016-01-01

    Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10 % of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others. Multiple animal models were generated to mimic the disease and to test future treatments. However, no animal model fully replicates the spectrum of phenotypes in the human disease and it is difficult to assess how a therapeutic effect in disease models can predict efficacy in humans. Importantly, the genetic and phenotypic heterogeneity of ALS leads to a variety of responses to similar treatment regimens. From this has emerged the concept of personalized medicine (PM), which is a medical scheme that combines study of genetic, environmental and clinical diagnostic testing, including biomarkers, to individualized patient care. In this perspective, we used subgroups of specific ALS-linked gene mutations to go through existing animal models and to provide a comprehensive profile of the differences and similarities between animal models of disease and human disease. Finally, we reviewed application of biomarkers and gene therapies relevant in personalized medicine approach. For instance, this includes viral delivering of antisense oligonucleotide and small interfering RNA in SOD1, TDP-43 and C9orf72 mice models. Promising gene therapies raised possibilities for treating differently the major mutations in familial ALS cases. PMID:27400686

  20. Does variance in drinking motives explain the genetic overlap between personality and alcohol use disorder symptoms? A twin study of young women

    PubMed Central

    Littlefield, Andrew K.; Agrawal, Arpana; Ellingson, Jarrod M.; Kristjansson, Sean; Madden, Pamela A. F.; Bucholz, Kathleen K.; Slutske, Wendy S.; Heath, Andrew C.; Sher, Kenneth J.

    2011-01-01

    Background Genetic risk for alcohol dependence has been shown to overlap with genetic factors contributing to variation in dimensions of personality. Though drinking motives have been posited as important mediators of the alcohol-personality relation, the extent to which the genetic covariance between alcohol use disorder (AUD) symptoms (i.e. abuse and dependence criteria) and personality is explained by genetic factors contributing to variation in drinking motives remains unclear. Methods Using data from 2,904 young adult female twins, the phenotypic and genetic associations among personality dimensions (constraint [measured by the Multidimensional Personality Questionnaire; Tellegen, 1982], conscientiousness, neuroticism, and agreeableness [measured by the NEO-PI; Costa & McCrae, 1985]), internal drinking motives (enhancement and coping motives [measured by the Drinking Motive Questionnaire; Cooper, 1994]), and AUD symptoms were tested. Results Significant genetic associations were found between all personality measures and AUD symptoms. Coping motives showed significant genetic overlap with AUD symptoms and most personality measures, whereas enhancement motives were not significantly heritable. Adjusting for coping motives, genetic correlations between AUD symptoms and traits of neuroticism and agreeableness were no longer statistically significant. Conclusions Findings suggest that genetic variation in drinking to cope might account for a considerable proportion of the genetic covariance between specific personality dimensions and AUD symptoms. PMID:21790670

  1. Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs

    PubMed Central

    Enroth, Stefan; Johansson, Åsa; Enroth, Sofia Bosdotter; Gyllensten, Ulf

    2014-01-01

    Ideal biomarkers used for disease diagnosis should display deviating levels in affected individuals only and be robust to factors unrelated to the disease. Here we show the impact of genetic, clinical and lifestyle factors on circulating levels of 92 protein biomarkers for cancer and inflammation, using a population-based cohort of 1,005 individuals. For 75% of the biomarkers, the levels are significantly heritable and genome-wide association studies identifies 16 novel loci and replicate 2 previously known loci with strong effects on one or several of the biomarkers with P-values down to 4.4 × 10−58. Integrative analysis attributes as much as 56.3% of the observed variance to non-disease factors. We propose that information on the biomarker-specific profile of major genetic, clinical and lifestyle factors should be used to establish personalized clinical cutoffs, and that this would increase the sensitivity of using biomarkers for prediction of clinical end points. PMID:25147954

  2. Placebo analgesia and reward processing: Integrating genetics, personality, and intrinsic brain activity

    PubMed Central

    Yu, Rongjun; Gollub, Randy L; Vangel, Mark; Kaptchuk, Ted; Smoller, Jordan W.; Kong, Jian

    2014-01-01

    Our expectations about an event can strongly shape our subjective evaluation and actual experience of events. This ability, applied to the modulation of pain, has the potential to affect therapeutic analgesia substantially and constitutes a foundation for non-pharmacological pain relief. A typical example of such modulation is the placebo effect. Studies indicate that placebo may be regarded as a reward, and brain activity in the reward system is involved in this modulation process. In the present study, we combined resting state functional magnetic resonance imaging (rs-fMRI) measures, genotype at a functional COMT polymorphism (Val158Met), and personality measures in a model to predict the magnitude of placebo conditioning effect indicated by subjective pain rating reduction to calibrated noxious stimuli. We found that the regional homogeneity (ReHo), an index of local neural coherence, in the ventral striatum, was significantly associated with conditioning effects on pain rating changes. We also found that the number of Met alleles at the COMT polymorphism was linearly correlated to the suppression of pain. In a fitted regression model, we found the ReHo in the ventral striatum, COMT genotype, and Openness scores accounted for 59% of the variance in the change in pain ratings. The model was further tested using a separate data set from the same study. Our findings demonstrate the potential of combining resting state connectivity, genetic information and personality to predict placebo effect. PMID:24578196

  3. Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.

    PubMed

    Peshkin, Beth N; Kelly, Scott; Nusbaum, Rachel H; Similuk, Morgan; DeMarco, Tiffani A; Hooker, Gillian W; Valdimarsdottir, Heiddis B; Forman, Andrea D; Joines, Jessica Rispoli; Davis, Claire; McCormick, Shelley R; McKinnon, Wendy; Graves, Kristi D; Isaacs, Claudine; Garber, Judy; Wood, Marie; Jandorf, Lina; Schwartz, Marc D

    2016-06-01

    Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women's perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N = 272; UC, N = 282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95 % CI = 3.32, 6.89) while also perceiving lower levels of support (OR = 0.56, 95 % CI = 0.40-0.80) and emotional recognition (OR = 0.53, 95 % CI = 0.37-0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR = 3.06, 95 % CI = 1.39-6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR = 0.80, 95 % CI = 0.39-1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC. PMID:26455498

  4. Personalization.

    ERIC Educational Resources Information Center

    Shore, Rebecca Martin

    1996-01-01

    Describes how a typical high school in Huntington Beach, California, curbed disruptive student behavior by personalizing the school experience for "problem" students. Through mostly volunteer efforts, an adopt-a-kid program was initiated that matched kids' learning styles to adults' personality styles and resulted in fewer suspensions and numerous…

  5. Genetic testing of stored tissue from a deceased person to define a relative's disease risk: Legal and ethical viewpoints.

    PubMed

    Skene, Loane; Savulescu, Julian; Delatycki, Martin B

    2015-06-01

    It is now possible to undertake gene sequencing on DNA obtained from stored tissue removed from a person now deceased or from stored tissue from a living person. The sequencing may assist close blood relatives who are at risk of having a mutation that predisposes them to cancer to find out their own genetic risk. If the test had been done previously Australian law would permit the test results to be provided to close blood relatives of the "originator" without consent, even if other relatives object, although good practice is to inform all family members about proposed genetic tests. However, it is less clear whether a pathology laboratory can lawfully, and should ethically provide stored tissue for genetic testing, without the originator's consent. This article argues that the law and ethics need to be clarified so pathology laboratories can confidently make stored tissue available for testing to assist blood relatives. PMID:26349383

  6. Personality disorders

    MedlinePlus

    Personality disorders are a group of mental conditions in which a person has a long-term pattern ... Causes of personality disorders are unknown. Genetic and environmental factors are thought to play a role. Mental health professionals categorize these ...

  7. Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

    PubMed

    Muller, Etienne; Brault, Baptiste; Holmes, Allyson; Legros, Angelina; Jeannot, Emmanuelle; Campitelli, Maura; Rousselin, Antoine; Goardon, Nicolas; Frébourg, Thierry; Krieger, Sophie; Crouet, Hubert; Nicolas, Alain; Sastre, Xavier; Vaur, Dominique; Castéra, Laurent

    2015-10-01

    Cancer treatment is facing major evolution since the advent of targeted therapies. Building genetic profiles could predict sensitivity or resistance to these therapies and highlight disease-specific abnormalities, supporting personalized patient care. In the context of biomedical research and clinical diagnosis, our laboratory has developed an oncogenic panel comprised of 226 genes and a dedicated bioinformatic pipeline to explore somatic mutations in cervical carcinomas, using high-throughput sequencing. Twenty-nine tumors were sequenced for exons within 226 genes. The automated pipeline used includes a database and a filtration system dedicated to identifying mutations of interest and excluding false positive and germline mutations. One-hundred and seventy-six total mutational events were found among the 29 tumors. Our cervical tumor mutational landscape shows that most mutations are found in PIK3CA (E545K, E542K) and KRAS (G12D, G13D) and others in FBXW7 (R465C, R505G, R479Q). Mutations have also been found in ALK (V1149L, A1266T) and EGFR (T259M). These results showed that 48% of patients display at least one deleterious mutation in genes that have been already targeted by the Food and Drug Administration approved therapies. Considering deleterious mutations, 59% of patients could be eligible for clinical trials. Sequencing hundreds of genes in a clinical context has become feasible, in terms of time and cost. In the near future, such an analysis could be a part of a battery of examinations along the diagnosis and treatment of cancer, helping to detect sensitivity or resistance to targeted therapies and allow advancements towards personalized oncology. PMID:26155992

  8. Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care

    PubMed Central

    Muller, Etienne; Brault, Baptiste; Holmes, Allyson; Legros, Angelina; Jeannot, Emmanuelle; Campitelli, Maura; Rousselin, Antoine; Goardon, Nicolas; Frébourg, Thierry; Krieger, Sophie; Crouet, Hubert; Nicolas, Alain; Sastre, Xavier; Vaur, Dominique; Castéra, Laurent

    2015-01-01

    Cancer treatment is facing major evolution since the advent of targeted therapies. Building genetic profiles could predict sensitivity or resistance to these therapies and highlight disease-specific abnormalities, supporting personalized patient care. In the context of biomedical research and clinical diagnosis, our laboratory has developed an oncogenic panel comprised of 226 genes and a dedicated bioinformatic pipeline to explore somatic mutations in cervical carcinomas, using high-throughput sequencing. Twenty-nine tumors were sequenced for exons within 226 genes. The automated pipeline used includes a database and a filtration system dedicated to identifying mutations of interest and excluding false positive and germline mutations. One-hundred and seventy-six total mutational events were found among the 29 tumors. Our cervical tumor mutational landscape shows that most mutations are found in PIK3CA (E545K, E542K) and KRAS (G12D, G13D) and others in FBXW7 (R465C, R505G, R479Q). Mutations have also been found in ALK (V1149L, A1266T) and EGFR (T259M). These results showed that 48% of patients display at least one deleterious mutation in genes that have been already targeted by the Food and Drug Administration approved therapies. Considering deleterious mutations, 59% of patients could be eligible for clinical trials. Sequencing hundreds of genes in a clinical context has become feasible, in terms of time and cost. In the near future, such an analysis could be a part of a battery of examinations along the diagnosis and treatment of cancer, helping to detect sensitivity or resistance to targeted therapies and allow advancements towards personalized oncology. PMID:26155992

  9. Genetics, Genomics and Cancer Risk Assessment: State of the art and future directions in the era of personalized medicine

    PubMed Central

    Weitzel, Jeffrey N.; Blazer, Kathleen R.; MacDonald, Deborah J.; Culver, Julie O.; Offit, Kenneth

    2012-01-01

    Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently-discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic counseling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease-risk information. We conclude that given the experiences and lessons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine. PMID:21858794

  10. ARTIFICIAL SELECTION ON RELATIVE BRAIN SIZE REVEALS A POSITIVE GENETIC CORRELATION BETWEEN BRAIN SIZE AND PROACTIVE PERSONALITY IN THE GUPPY

    PubMed Central

    Kotrschal, Alexander; Lievens, Eva JP; Dahlbom, Josefin; Bundsen, Andreas; Semenova, Svetlana; Sundvik, Maria; Maklakov, Alexei A; Winberg, Svante; Panula, Pertti; Kolm, Niclas; Morrow, E

    2014-01-01

    Animal personalities range from individuals that are shy, cautious, and easily stressed (a “reactive” personality type) to individuals that are bold, innovative, and quick to learn novel tasks, but also prone to routine formation (a “proactive” personality type). Although personality differences should have important consequences for fitness, their underlying mechanisms remain poorly understood. Here, we investigated how genetic variation in brain size affects personality. We put selection lines of large- and small-brained guppies (Poecilia reticulata), with known differences in cognitive ability, through three standard personality assays. First, we found that large-brained animals were faster to habituate to, and more exploratory in, open field tests. Large-brained females were also bolder. Second, large-brained animals excreted less cortisol in a stressful situation (confinement). Third, large-brained animals were slower to feed from a novel food source, which we interpret as being caused by reduced behavioral flexibility rather than lack of innovation in the large-brained lines. Overall, the results point toward a more proactive personality type in large-brained animals. Thus, this study provides the first experimental evidence linking brain size and personality, an interaction that may affect important fitness-related aspects of ecology such as dispersal and niche exploration. PMID:24359469

  11. Artificial selection on relative brain size reveals a positive genetic correlation between brain size and proactive personality in the guppy.

    PubMed

    Kotrschal, Alexander; Lievens, Eva J P; Dahlbom, Josefin; Bundsen, Andreas; Semenova, Svetlana; Sundvik, Maria; Maklakov, Alexei A; Winberg, Svante; Panula, Pertti; Kolm, Niclas

    2014-04-01

    Animal personalities range from individuals that are shy, cautious, and easily stressed (a "reactive" personality type) to individuals that are bold, innovative, and quick to learn novel tasks, but also prone to routine formation (a "proactive" personality type). Although personality differences should have important consequences for fitness, their underlying mechanisms remain poorly understood. Here, we investigated how genetic variation in brain size affects personality. We put selection lines of large- and small-brained guppies (Poecilia reticulata), with known differences in cognitive ability, through three standard personality assays. First, we found that large-brained animals were faster to habituate to, and more exploratory in, open field tests. Large-brained females were also bolder. Second, large-brained animals excreted less cortisol in a stressful situation (confinement). Third, large-brained animals were slower to feed from a novel food source, which we interpret as being caused by reduced behavioral flexibility rather than lack of innovation in the large-brained lines. Overall, the results point toward a more proactive personality type in large-brained animals. Thus, this study provides the first experimental evidence linking brain size and personality, an interaction that may affect important fitness-related aspects of ecology such as dispersal and niche exploration. PMID:24359469

  12. How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study

    PubMed Central

    Ostergren, Jenny E.; Gornick, Michele C.; Carere, Deanna Alexis; Kalia, Sarah S.; Uhlmann, Wendy R.; Ruffin, Mack T.; Mountain, Joanna L.; Green, Robert C.; Roberts, J. Scott

    2016-01-01

    Aim To assess customer comprehension of health-related personal genomic testing (PGT) results. Methods We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer’s disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. Results Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1–97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6–74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores. Conclusions Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics. PMID:26087778

  13. Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing

    PubMed Central

    Lehmann, Lisa Soleymani; Kaufman, David J.; Sharp, Richard R.; Moreno, Tanya A.; Mountain, Joanna L.; Roberts, J. Scott; Green, Robert C.

    2013-01-01

    Purpose To describe the process of structuring a partnership between academic researchers and two personalized genetic testing companies that would manage conflicts of interest while allowing researchers to study the impact of this nascent industry. Methods We developed a transparent process of ongoing communication about the interests of all research partners to address challenges in establishing study goals, survey development, data collection, analysis, and manuscript preparation. Using the existing literature on conflicts of interest and our experience, we created a checklist for academic and industry researchers seeking to structure research partnerships. Results Our checklist includes questions about the risk to research participants, sponsorship of the study, control of data analysis, freedom to publish results, the impact of the research on industry customers, openness to input from all partners, sharing results before publication, and publication of industry-specific data. Transparency is critical to building trust between partners. Involving all partners in the research development enhanced the quality of our research and provided an opportunity to manage conflicts early in the research process. Conclusion Navigating relationships between academia and industry is complex and requires strategies that are transparent and responsive to the concerns of all. Employing a checklist of questions prior to beginning a research partnership may help to manage conflicts of interest. PMID:22241103

  14. Psychopathic personality traits and environmental contexts: Differential correlates, gender differences, and genetic mediation.

    PubMed

    Hicks, Brian M; Carlson, Marie D; Blonigen, Daniel M; Patrick, Christopher J; Iacono, William G; Mgue, Matt

    2012-07-01

    Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ) estimates of Fearless Dominance and Impulsive Antisociality, respectively. The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy. PMID:22452762

  15. Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies

    PubMed Central

    Ostergren, Jenny

    2013-01-01

    Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of consumer perspectives and experiences, and (3) surveys of relevant health care providers. Findings suggest that neither the health benefits envisioned by DTC-GT proponents (e.g., significant improvements in positive health behaviors) nor the worst fears expressed by its critics (e.g., catastrophic psychological distress and misunderstanding of test results, undue burden on the health care system) have materialized to date. However, research in this area is in its early stages and possesses numerous key limitations. We note needs for future studies to illuminate the impact of DTC-GT and thereby guide practice and policy regarding this rapidly evolving approach to personal genomics. PMID:24058877

  16. Psychopathic Personality Traits and Environmental Contexts: Differential Correlates, Gender Differences, and Genetic Mediation

    PubMed Central

    Hicks, Brian M.; Carlson, Marie D.; Blonigen, Daniel M.; Patrick, Christopher J.; Iacono, William G.; MGue, Matt

    2011-01-01

    Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ; Tellegen & Waller, 2008) estimates of Fearless Dominance and Impulsive Antisociality, respectively (Benning et al., 2005). The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy. PMID:22452762

  17. Genetic and environmental sources of individual religiousness: the roles of individual personality traits and perceived environmental religiousness.

    PubMed

    Kandler, Christian; Riemann, Rainer

    2013-07-01

    In the current study, we examined the genetic and environmental sources of the links between individual religiousness and individual personality traits, perceived parental religiousness, and perceived peer religiousness. Data from 870 individuals (incl. 394 twin pairs) were analyzed. Variance in individual religiousness was significantly influenced by genetic effects, environmental influences shared by twins reared together, and individual-specific environmental influences. Individual religiousness showed significant associations with age, sex, specific personality traits (e.g., agreeableness, openness to values), and perceived religiousness of important social interaction partners, such as parents, best friends, and spouses. The links to personality traits were relatively small and primarily genetically mediated. The associations between individual religiousness and parental religiousness were substantial and mediated by shared environmental effects. These links significantly decreased across age accompanying a significant decrease of shared environmental influences on individual religiousness. The correlations between individual religiousness and perceived religiousness of spouses and best friends were relatively moderate but increased with age. These associations were mediated by genetic as well as nonshared environmental sources accompanying an increase of nonshared environmental influences on individual religiousness with age. The results suggest that inter-individual differences in religiousness are due to multiple sources. PMID:23681197

  18. Is Variability in Mate Choice Similar for Intelligence and Personality Traits? Testing a Hypothesis about the Evolutionary Genetics of Personality

    ERIC Educational Resources Information Center

    Stone, Emily A.; Shackelford, Todd K.; Buss, David M.

    2012-01-01

    This study tests the hypothesis presented by Penke, Denissen, and Miller (2007a) that condition-dependent traits, including intelligence, attractiveness, and health, are universally and uniformly preferred as characteristics in a mate relative to traits that are less indicative of condition, including personality traits. We analyzed…

  19. Sensation seeking, peer deviance, and genetic influences on adolescent delinquency: Evidence for person-environment correlation and interaction.

    PubMed

    Mann, Frank D; Patterson, Megan W; Grotzinger, Andrew D; Kretsch, Natalie; Tackett, Jennifer L; Tucker-Drob, Elliot M; Harden, K Paige

    2016-07-01

    Both sensation seeking and affiliation with deviant peer groups are risk factors for delinquency in adolescence. In this study, we use a sample of adolescent twins (n = 549), 13 to 20 years old (M age = 15.8 years), in order to test the interactive effects of peer deviance and sensation seeking on delinquency in a genetically informative design. Consistent with a socialization effect, affiliation with deviant peers was associated with higher delinquency even after controlling for selection effects using a co-twin-control comparison. At the same time, there was evidence for person-environment correlation; adolescents with genetic dispositions toward higher sensation seeking were more likely to report having deviant peer groups. Genetic influences on sensation seeking substantially overlapped with genetic influences on adolescent delinquency. Finally, the environmentally mediated effect of peer deviance on adolescent delinquency was moderated by individual differences in sensation seeking. Adolescents reporting high levels of sensation seeking were more susceptible to deviant peers, a Person × Environment interaction. These results are consistent with both selection and socialization processes in adolescent peer relationships, and they highlight the role of sensation seeking as an intermediary phenotype for genetic risk for delinquency. (PsycINFO Database Record PMID:27124714

  20. Improved weight management using genetic information to personalize a calorie controlled diet

    PubMed Central

    Arkadianos, Ioannis; Valdes, Ana M; Marinos, Efstathios; Florou, Anna; Gill, Rosalynn D; Grimaldi, Keith A

    2007-01-01

    Background Gene-environment studies demonstrate variability in nutrient requirements depending upon individual variations in genes affecting nutrient metabolism and transport. This study investigated whether the inclusion of genetic information to personalize a patient's diet (nutrigenetics) could improve long term weight management. Methods Patients with a history of failures at weight loss were offered a nutrigenetic test screening 24 variants in 19 genes involved in metabolism. 50 patients were in the nutrigenetic group and 43 patients attending the same clinic were selected for comparison using algorithms to match the characteristics: age, sex, frequency of clinical visits and BMI at initial clinic visit. The second group of 43 patients did not receive a nutrigenetic test. BMI reduction at 100 and > 300 days and blood fasting glucose were measured. Results After 300 days of follow-up individuals in the nutrigenetic group were more likely to have maintained some weight loss (73%) than those in the comparison group (32%), resulting in an age and gender adjusted OR of 5.74 (95% CI 1.74–22.52). Average BMI reduction in the nutrigenetic group was 1.93 kg/m2(5.6% loss) vs. an average BMI gain of 0.51 kg/m2(2.2% gain) (p < 0.023). Among patients with a starting blood fasting glucose of > 100 mg/dL, 57% (17/30) of the nutrigenetic group but only 25% (4/16) of the non-tested group had levels reduced to < 100 mg/dL after > 90 days of weight management therapy (OR for lowering glucose to < 100 mg/dL due to diet = 1.98 95%CI 1.01, 3.87, p < 0.046). Conclusion Addition of nutrigenetically tailored diets resulted in better compliance, longer-term BMI reduction and improvements in blood glucose levels. PMID:17945020

  1. Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    With the decrease in sequencing costs, personalized genome sequencing will eventually become common in medical practice. We therefore write this series of three reviews to help non-geneticist clinicians to jump into the fast-moving field of personalized medicine. In the first article of this series, we reviewed the fundamental concepts in molecular genetics. In this second article, we cover the key concepts and methods in genetic epidemiology including the classification of genetic disorders, study designs and their implementation, genetic marker selection, genotyping and sequencing technologies, gene identification strategies, data analyses and data interpretation. This review will help the reader critically appraise a genetic association study. In the next article, we will discuss the clinical applications of genetic epidemiology in the personalized medicine area. PMID:25598767

  2. Selection of competent blastocysts for transfer by combining time-lapse monitoring and array CGH testing for patients undergoing preimplantation genetic screening: a prospective study with sibling oocytes

    PubMed Central

    2014-01-01

    Background Recent advances in time-lapse monitoring in IVF treatment have provided new morphokinetic markers for embryonic competence. However, there is still very limited information about the relationship between morphokinetic parameters, chromosomal compositions and implantation potential. Accordingly, this study aimed at investigating the effects of selecting competent blastocysts for transfer by combining time-lapse monitoring and array CGH testing on pregnancy and implantation outcomes for patients undergoing preimplantation genetic screening (PGS). Methods A total of 1163 metaphase II (MII) oocytes were retrieved from 138 PGS patients at a mean age of 36.6 ± 2.4 years. These sibling MII oocytes were then randomized into two groups after ICSI: 1) Group A, oocytes (n = 582) were cultured in the time-lapse system and 2) Group B, oocytes (n = 581) were cultured in the conventional incubator. For both groups, whole genomic amplification and array CGH testing were performed after trophectoderm biopsy on day 5. One to two euploid blastocysts within the most predictive morphokinetic parameters (Group A) or with the best morphological grade available (Group B) were selected for transfer to individual patients on day 6. Ongoing pregnancy and implantation rates were compared between the two groups. Results There were significant differences in clinical pregnancy rates between Group A and Group B (71.1% vs. 45.9%, respectively, p = 0.037). The observed implantation rate per embryo transfer significantly increased in Group A compared to Group B (66.2% vs. 42.4%, respectively, p = 0.011). Moreover, a significant increase in ongoing pregnancy rates was also observed in Group A compared to Group B (68.9% vs. 40.5%. respectively, p = 0.019). However, there was no significant difference in miscarriage rate between the time-lapse system and the conventional incubator (3.1% vs. 11.8%, respectively, p = 0.273). Conclusions This is the first prospective investigation using

  3. Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.

    PubMed

    van den Berg, Stéphanie M; de Moor, Marleen H M; Verweij, Karin J H; Krueger, Robert F; Luciano, Michelle; Arias Vasquez, Alejandro; Matteson, Lindsay K; Derringer, Jaime; Esko, Tõnu; Amin, Najaf; Gordon, Scott D; Hansell, Narelle K; Hart, Amy B; Seppälä, Ilkka; Huffman, Jennifer E; Konte, Bettina; Lahti, Jari; Lee, Minyoung; Miller, Mike; Nutile, Teresa; Tanaka, Toshiko; Teumer, Alexander; Viktorin, Alexander; Wedenoja, Juho; Abdellaoui, Abdel; Abecasis, Goncalo R; Adkins, Daniel E; Agrawal, Arpana; Allik, Jüri; Appel, Katja; Bigdeli, Timothy B; Busonero, Fabio; Campbell, Harry; Costa, Paul T; Smith, George Davey; Davies, Gail; de Wit, Harriet; Ding, Jun; Engelhardt, Barbara E; Eriksson, Johan G; Fedko, Iryna O; Ferrucci, Luigi; Franke, Barbara; Giegling, Ina; Grucza, Richard; Hartmann, Annette M; Heath, Andrew C; Heinonen, Kati; Henders, Anjali K; Homuth, Georg; Hottenga, Jouke-Jan; Iacono, William G; Janzing, Joost; Jokela, Markus; Karlsson, Robert; Kemp, John P; Kirkpatrick, Matthew G; Latvala, Antti; Lehtimäki, Terho; Liewald, David C; Madden, Pamela A F; Magri, Chiara; Magnusson, Patrik K E; Marten, Jonathan; Maschio, Andrea; Mbarek, Hamdi; Medland, Sarah E; Mihailov, Evelin; Milaneschi, Yuri; Montgomery, Grant W; Nauck, Matthias; Nivard, Michel G; Ouwens, Klaasjan G; Palotie, Aarno; Pettersson, Erik; Polasek, Ozren; Qian, Yong; Pulkki-Råback, Laura; Raitakari, Olli T; Realo, Anu; Rose, Richard J; Ruggiero, Daniela; Schmidt, Carsten O; Slutske, Wendy S; Sorice, Rossella; Starr, John M; St Pourcain, Beate; Sutin, Angelina R; Timpson, Nicholas J; Trochet, Holly; Vermeulen, Sita; Vuoksimaa, Eero; Widen, Elisabeth; Wouda, Jasper; Wright, Margaret J; Zgaga, Lina; Porteous, David; Minelli, Alessandra; Palmer, Abraham A; Rujescu, Dan; Ciullo, Marina; Hayward, Caroline; Rudan, Igor; Metspalu, Andres; Kaprio, Jaakko; Deary, Ian J; Räikkönen, Katri; Wilson, James F; Keltikangas-Järvinen, Liisa; Bierut, Laura J; Hettema, John M; Grabe, Hans J; Penninx, Brenda W J H; van Duijn, Cornelia M; Evans, David M; Schlessinger, David; Pedersen, Nancy L; Terracciano, Antonio; McGue, Matt; Martin, Nicholas G; Boomsma, Dorret I

    2016-03-01

    Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion. PMID:26362575

  4. Antisocial personality disorder

    MedlinePlus

    Sociopathic personality; Sociopathy; Personality disorder - antisocial ... Cause of antisocial personality disorder is unknown. Genetic factors and environmental factors, such as child abuse, are believed to contribute to ...

  5. Treatment compliance and effectiveness in complex PTSD patients with co-morbid personality disorder undergoing stabilizing cognitive behavioral group treatment: a preliminary study

    PubMed Central

    Dorrepaal, Ethy; Thomaes, Kathleen; Smit, Johannes H.; Veltman, Dick J.; Hoogendoorn, Adriaan W.; van Balkom, Anton J. L. M.; Draijer, Nel

    2013-01-01

    Background In the empirical and clinical literature, complex posttraumatic stress disorder (PTSD) and personality disorders (PDs) are suggested to be predictive of drop-out or reduced treatment effectiveness in trauma-focused PTSD treatment. Objective In this study, we aimed to investigate if personality characteristics would predict treatment compliance and effectiveness in stabilizing complex PTSD treatment. Method In a randomized controlled trial on a 20-week stabilizing group cognitive behavioral treatment (CBT) for child-abuse-related complex PTSD, we included 71 patients of whom 38 were randomized to a psycho-educational and cognitive behavioral stabilizing group treatment. We compared the patients with few PD symptoms (adaptive) (N=14) with the non-adaptive patients (N=24) as revealed by a cluster analysis. Results We found that non-adaptive patients compared to the adaptive patients showed very low drop-out rates. Both non-adaptive patients, classified with highly different personality profiles “withdrawn” and “aggressive,” were equally compliant. With regard to symptom reduction, we found no significant differences between subtypes. Post-hoc, patients with a PD showed lower drop-out rates and higher effect sizes in terms of complex PTSD severity, especially on domains that affect regulation and interpersonal problems. Conclusions Contrary to our expectations, these preliminary findings indicate that this treatment is well tolerated by patients with a variety of personality pathology. Larger sample sizes are needed to study effectiveness for subgroups of complex PTSD patients. PMID:24224077

  6. Trait-based assessment of borderline personality disorder using the NEO Five-Factor Inventory: Phenotypic and genetic support.

    PubMed

    Few, Lauren R; Miller, Joshua D; Grant, Julia D; Maples, Jessica; Trull, Timothy J; Nelson, Elliot C; Oltmanns, Thomas F; Martin, Nicholas G; Lynskey, Michael T; Agrawal, Arpana

    2016-01-01

    [Correction Notice: An Erratum for this article was reported in Vol 28(1) of Psychological Assessment (see record 2015-54029-001). The FFI-BPD values for Sample 3 in Table 2 should read 1.42 (0.44), 0.83.] The aim of the current study was to examine the reliability and validity of a trait-based assessment of borderline personality disorder (BPD) using the NEO Five-Factor Inventory. Correlations between the Five-Factor Inventory-BPD composite (FFI-BPD) and explicit measures of BPD were examined across 6 samples, including undergraduate, community, and clinical samples. The median correlation was .60, which was nearly identical to the correlation between measures of BPD and a BPD composite generated from the full Revised NEO Personality Inventory (i.e., NEO-BPD; r = .61). Correlations between FFI-BPD and relevant measures of psychiatric symptomatology and etiology (e.g., childhood abuse, drug use, depression, and personality disorders) were also examined and compared to those generated using explicit measures of BPD and NEO-BPD. As expected, the FFI-BPD composite correlated most strongly with measures associated with high levels of Neuroticism, such as depression, anxiety, and emotion dysregulation, and the pattern of correlations generated using the FFI-BPD was highly similar to those generated using explicit measures of BPD and NEO-BPD. Finally, genetic analyses estimated that FFI-BPD is 44% heritable, which is comparable to meta-analytic research examining genetics associated with BPD, and revealed that 71% of the genetic influences are shared between FFI-BPD and a self-report measure assessing BPD (Personality Assessment Inventory-Borderline subscale; Morey, 1991). Generally, these results support the use of FFI-BPD as a reasonable proxy for BPD, which has considerable implications, particularly for potential gene-finding efforts in large, epidemiological datasets that include the NEO FFI. PMID:25984635

  7. Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death

    PubMed Central

    Erskine, Kathleen E.; Hidayatallah, Nadia Z.; Walsh, Christine A.; McDonald, Thomas V.; Cohen, Lilian; Marion, Robert W.; Dolan, Siobhan M.

    2014-01-01

    Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual’s medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants’ motivations included: to find an explanation for a family member’s sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual’s internal and external motivations either for or against pursuing genetic testing. PMID:24664857

  8. Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control.

    PubMed

    Injeyan, Marie C; Shuman, Cheryl; Shugar, Andrea; Chitayat, David; Atenafu, Eshetu G; Kaiser, Amy

    2011-10-01

    Compassion fatigue (CMF) arises as a consequence of secondary exposure to distress and can be elevated in some health practitioners. Locus of control and dispositional optimism are aspects of personality known to influence coping style. To investigate whether these personality traits influence CMF risk, we surveyed 355 genetic counselors about their CMF, locus of control orientation, and degree of dispositional optimism. Approximately half of respondents reported they experience CMF; 26.6% had considered leaving their job due to CMF symptoms. Mixed-method analyses revealed that genetic counselors having an external locus of control and low optimism were at highest risk for CMF. Those at highest risk experienced moderate-to-high burnout, low-to-moderate compassion satisfaction, and tended to rely on religion/spirituality when coping with stress. CMF risk was not influenced by years in practice, number of genetic counselor colleagues in the workplace, or completion of graduate training in this area. Recommendations for practice and education are outlined. PMID:21701957

  9. Randomized Noninferiority Trial of Telephone Versus In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer

    PubMed Central

    Schwartz, Marc D.; Valdimarsdottir, Heiddis B.; Peshkin, Beth N.; Mandelblatt, Jeanne; Nusbaum, Rachel; Huang, An-Tsun; Chang, Yaojen; Graves, Kristi; Isaacs, Claudine; Wood, Marie; McKinnon, Wendy; Garber, Judy; McCormick, Shelley; Kinney, Anita Y.; Luta, George; Kelleher, Sarah; Leventhal, Kara-Grace; Vegella, Patti; Tong, Angie; King, Lesley

    2014-01-01

    Purpose Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. Patients and Methods Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. Results TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, −0.61), perceived stress (d = −0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = −0.16; lower bound of 97.5% CI, −0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = −1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient. Conclusion Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs. PMID:24449235

  10. Behavior Genetics and the Within-Person Variability of Daily Interpersonal Styles: The Heritability of Flux, Spin and Pulse

    PubMed Central

    Markey, Patrick M.; Racine, Sarah E.; Markey, Charlotte N.; Hopwood, Christopher J.; Keel, Pamela K.; Burt, S. Alexandra; Neale, Michael C.; Sisk, Cheryl L.; Boker, Steven M.; Klump, Kelly L.

    2014-01-01

    A classical twin study was used to estimate the magnitude of genetic and environmental influences on four measurements of within-person variability: dominance flux, warmth flux, spin and pulse. Flux refers to the variability of an individual’s interpersonal dominance and warmth. Spin measures changes in the tone of interpersonal styles and pulse measures changes in the intensity of interpersonal styles. Daily reports of interpersonal styles were collected from 494 same-sex female twins (142 monozygotic pairs and 105 dizygotic pairs) over 45 days. For dominance flux, warmth flux, and spin, genetic effects accounted for a larger proportion of variance (37%, 24%, and 30%, respectively) than shared environmental effects (14%, 13%, 0%, respectively), with the remaining variance due to the non-shared environment (62%, 50%, 70% respectively). Pulse appeared to be primarily influenced by the non-shared environment, although conclusions about the contribution of familial influences were difficult to draw from this study. PMID:25977748

  11. Income, personality, and subjective financial well-being: the role of gender in their genetic and environmental relationships

    PubMed Central

    Zyphur, Michael J.; Li, Wen-Dong; Zhang, Zhen; Arvey, Richard D.; Barsky, Adam P.

    2015-01-01

    Increasing levels of financial inequality prompt questions about the relationship between income and well-being. Using a twins sample from the Survey of Midlife Development in the U. S. and controlling for personality as core self-evaluations (CSE), we found that men, but not women, had higher subjective financial well-being (SFWB) when they had higher incomes. This relationship was due to ‘unshared environmental’ factors rather than genes, suggesting that the effect of income on SFWB is driven by unique experiences among men. Further, for women and men, we found that CSE influenced income and SFWB, and that both genetic and environmental factors explained this relationship. Given the relatively small and male-specific relationship between income and SFWB, and the determination of both income and SFWB by personality, we propose that policy makers focus on malleable factors beyond merely income in order to increase SFWB, including financial education and building self-regulatory capacity. PMID:26483742

  12. Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.

    PubMed

    Wynn, Julia

    2016-08-01

    Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor's experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved from a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing. PMID:26242468

  13. Genetic Association Studies in Uterine Fibroids: Risk Alleles Presage the Path to Personalized Therapies.

    PubMed

    Gallagher, C Scott; Morton, Cynthia C

    2016-07-01

    Uterine leiomyoma (UL) is the most common tumor of the female reproductive system. Epidemiological analyses, including familial aggregation, twin studies, and racial discrepancies in disease prevalence and morbidity, indicated genetic factors influence risk for developing UL. Genome-wide association studies (GWASs) are a powerful method for identifying genetic variants that are associated with elevated risk for a common, complex disease. To date, three genome-wide scans for UL have been performed: a GWAS in Japanese women, a genome-wide linkage and association study in women of European decent, and an admixture-based analysis in African American women. Results from each of the three genome-wide scans performed have had varying success in identifying unique loci associated with predisposition to developing UL. Here, we address the evidence for a genetic basis for UL risk, discuss genetic association studies and their results, and identify challenges and future directions for UL GWAS analyses. PMID:27513025

  14. Legionella pneumophila strain associated with the first evidence of person-to-person transmission of Legionnaires’ disease: a unique mosaic genetic backbone

    PubMed Central

    Borges, Vítor; Nunes, Alexandra; Sampaio, Daniel A.; Vieira, Luís; Machado, Jorge; Simões, Maria J.; Gonçalves, Paulo; Gomes, João P.

    2016-01-01

    A first strong evidence of person-to-person transmission of Legionnaires’ Disease (LD) was recently reported. Here, we characterize the genetic backbone of this case-related Legionella pneumophila strain (“PtVFX/2014”), which also caused a large outbreak of LD. PtVFX/2014 is phylogenetically divergent from the most worldwide studied outbreak-associated L. pneumophila subspecies pneumophila serogroup 1 strains. In fact, this strain is also from serogroup 1, but belongs to the L. pneumophila subspecies fraseri. Its genomic mosaic backbone reveals eight horizontally transferred regions encompassing genes, for instance, involved in lipopolysaccharide biosynthesis or encoding virulence-associated Dot/Icm type IVB secretion system (T4BSS) substrates. PtVFX/2014 also inherited a rare ~65 kb pathogenicity island carrying virulence factors and detoxifying enzymes believed to contribute to the emergence of best-fitted strains in water reservoirs and in human macrophages, as well as a inter-species transferred (from L. oakridgensis) ~37.5 kb genomic island (harboring a lvh/lvr T4ASS cluster) that had never been found intact within L. pneumophila species. PtVFX/2014 encodes another lvh/lvr cluster near to CRISPR-associated genes, which may boost L. pneumophila transition from an environmental bacterium to a human pathogen. Overall, this unique genomic make-up may impact PtVFX/2014 ability to adapt to diverse environments, and, ultimately, to be transmitted and cause human disease. PMID:27196677

  15. Legionella pneumophila strain associated with the first evidence of person-to-person transmission of Legionnaires' disease: a unique mosaic genetic backbone.

    PubMed

    Borges, Vítor; Nunes, Alexandra; Sampaio, Daniel A; Vieira, Luís; Machado, Jorge; Simões, Maria J; Gonçalves, Paulo; Gomes, João P

    2016-01-01

    A first strong evidence of person-to-person transmission of Legionnaires' Disease (LD) was recently reported. Here, we characterize the genetic backbone of this case-related Legionella pneumophila strain ("PtVFX/2014"), which also caused a large outbreak of LD. PtVFX/2014 is phylogenetically divergent from the most worldwide studied outbreak-associated L. pneumophila subspecies pneumophila serogroup 1 strains. In fact, this strain is also from serogroup 1, but belongs to the L. pneumophila subspecies fraseri. Its genomic mosaic backbone reveals eight horizontally transferred regions encompassing genes, for instance, involved in lipopolysaccharide biosynthesis or encoding virulence-associated Dot/Icm type IVB secretion system (T4BSS) substrates. PtVFX/2014 also inherited a rare ~65 kb pathogenicity island carrying virulence factors and detoxifying enzymes believed to contribute to the emergence of best-fitted strains in water reservoirs and in human macrophages, as well as a inter-species transferred (from L. oakridgensis) ~37.5 kb genomic island (harboring a lvh/lvr T4ASS cluster) that had never been found intact within L. pneumophila species. PtVFX/2014 encodes another lvh/lvr cluster near to CRISPR-associated genes, which may boost L. pneumophila transition from an environmental bacterium to a human pathogen. Overall, this unique genomic make-up may impact PtVFX/2014 ability to adapt to diverse environments, and, ultimately, to be transmitted and cause human disease. PMID:27196677

  16. Genetics

    MedlinePlus

    Homozygous; Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  17. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  18. Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption.

    PubMed

    Widmer, Chaney; Deshazo, Jonathan P; Bodurtha, Joann; Quillin, John; Creswick, Heather

    2013-06-01

    Given the widespread adoption of electronic medical records and recent emergence of electronic family history tools, we examined genetic counselors' perspectives on the emerging technology of the personal health record (PHR)-based family history tool that links to an electronic medical record (EMR). Two-hundred thirty-three genetic counselors responded to an on-line survey eliciting current use of electronic family history (EFH) tools and familiarity with PHR-based family history tools. Additionally, after being shown a series of screen shots of a newly developed PHR-based family history tool based on the U.S. Surgeon General's My Family Health Portrait (United States Department of Health and Human Services 2009), participants were surveyed about the perceived usefulness, ease of use, and impact on current workflow that this kind of tool would have in their practices. Eighty-three percent reported that their institution has an EMR, yet only 35 % have a dedicated space for family history. Eighty-two percent reported that less than 5 % of their patients have a PHR, and only 16 % have worked with patients who have a PHR. Seventy-two percent or more agreed that a PHR-based family history tool would facilitate communication, increase accuracy of information, ensure consistency in recording information, increase focus on actual counseling, reduce repetitive questions, improve efficiency, and increase the legibility and clarity. Our findings suggest that participants were familiar with existing EFH tools, but that the majority did not use them in practice. Genetic counselors' adoption of such tools is limited due to non-existence of this kind of technology or inability to integrate it into their clinics. They are also strongly in favor of adopting a PHR-based family history tool in genetics clinics, but have practical concerns that must be addressed before the tool can be implemented. PMID:23242928

  19. Genetic Markers of the Host in Persons Living with HTLV-1, HIV and HCV Infections

    PubMed Central

    Assone, Tatiane; Paiva, Arthur; Fonseca, Luiz Augusto M.; Casseb, Jorge

    2016-01-01

    Human T-cell leukemia virus type 1 (HTLV-1), hepatitis C virus (HCV) and human immunodeficiency virus type 1 (HIV-1) are prevalent worldwide, and share similar means of transmission. These infections may influence each other in evolution and outcome, including cancer or immunodeficiency. Many studies have reported the influence of genetic markers on the host immune response against different persistent viral infections, such as HTLV-1 infection, pointing to the importance of the individual genetic background on their outcomes. However, despite recent advances on the knowledge of the pathogenesis of HTLV-1 infection, gaps in the understanding of the role of the individual genetic background on the progress to disease clinically manifested still remain. In this scenario, much less is known regarding the influence of genetic factors in the context of dual or triple infections or their influence on the underlying mechanisms that lead to outcomes that differ from those observed in monoinfection. This review describes the main factors involved in the virus–host balance, especially for some particular human leukocyte antigen (HLA) haplotypes, and other important genetic markers in the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and other persistent viruses, such as HIV and HCV. PMID:26848682

  20. Genetics of coronary heart disease: towards causal mechanisms, novel drug targets and more personalized prevention.

    PubMed

    Orho-Melander, M

    2015-11-01

    Coronary heart disease (CHD) is an archetypical multifactorial disorder that is influenced by genetic susceptibility as well as both modifiable and nonmodifiable risk factors, and their interactions. Advances during recent years in the field of multifactorial genetics, in particular genomewide association studies (GWASs) and their meta-analyses, have provided the statistical power to identify and replicate genetic variants in more than 50 risk loci for CHD and in several hundreds of loci for cardiometabolic risk factors for CHD such as blood lipids and lipoproteins. Although for a great majority of these loci both the causal variants and mechanisms remain unknown, progress in identifying the causal variants and underlying mechanisms has already been made for several genetic loci. Furthermore, identification of rare loss-of-function variants in genes such as PCSK9, NPC1L1, APOC3 and APOA5, which cause a markedly decreased risk of CHD and no adverse side effects, illustrates the power of translating genetic findings into novel mechanistic information and provides some optimism for the future of developing novel drugs, given the many genes associated with CHD in GWASs. Finally, Mendelian randomization can be used to reveal or exclude causal relationships between heritable biomarkers and CHD, and such approaches have already provided evidence of causal relationships between CHD and LDL cholesterol, triglycerides/remnant particles and lipoprotein(a), and indicated a lack of causality for HDL cholesterol, C-reactive protein and lipoprotein-associated phospholipase A2. Together, these genetic findings are beginning to lead to promising new drug targets and novel interventional strategies and thus have great potential to improve prevention, prediction and therapy of CHD. PMID:26477595

  1. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.

    PubMed

    So, Derek; Joly, Yann

    2013-06-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad's strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company's focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad's practices over this period allows the identification of the company's more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply. PMID:23885284

  2. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga

    PubMed Central

    So, Derek; Joly, Yann

    2013-01-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad’s strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company’s focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad’s practices over this period allows the identification of the company’s more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply. PMID:23885284

  3. "It's all very well reading the letters in the genome, but it's a long way to being able to write": Men's interpretations of undergoing genetic profiling to determine future risk of prostate cancer.

    PubMed

    Bancroft, Elizabeth K; Castro, Elena; Ardern-Jones, Audrey; Moynihan, Clare; Page, Elizabeth; Taylor, Natalie; Eeles, Rosalind A; Rowley, Emma; Cox, Karen

    2014-12-01

    A family history of prostate cancer (PC) is one of the main risk factors for the disease. A number of common single nucleotide polymorphisms (SNPs) that confer small but cumulatively substantial risks of PC have been identified, opening the possibility for the use of SNPs in PC risk stratification for targeted screening and prevention in the future. The objective of this study was to explore the psychosocial impact of receiving information about genetic risk of PC. The participants were men who had a family history of PC and were enrolled in a screening study providing research genetic profiling alongside screening for PC. A combination of questionnaires and in-depth interviews were used. Questionnaires were completed by men at two time points: both before and after joining the study and going through the genetic profiling process. The interviews were completed after all study process were complete and were analysed using a framework analysis. In total 95 men completed both questionnaires and 26 men were interviewed. A number of issues facing men at risk of PC were identified. The results fell into two main categories: personal relevance and societal relevance. The strength of men's innate beliefs about their risk, shaped by genetic and environmental assumptions, outweigh the information provided by genetic testing. Men felt genetic profile results would have future use for accessing prostate screening, being aware of symptoms and in communicating with others. The findings reinforce the importance of providing contextual information alongside genetic profiling test results, and emphasises the importance of the counselling process in providing genetic risk information. This research raises some key issues to facilitate clinical practice and future research related to the use of genetic profiling to determine risk of PC and other diseases. PMID:24980079

  4. [ANALYSIS OF F. M. DOSTOEVSKY'S HEALTH, PERSONALITY, AND WORKS FROM THE GENETIC STANDPOINT. PART 2].

    PubMed

    Kobylyansky, V I

    2015-01-01

    The data on Dostoevsky's epilepsy are ambiguous and often contradictory. It prompted consideration of certain genetic aspects of the writer 's pedigree for the clarification of this issue. The phenomenon of Dostoevsky's genius was for the first time contemplated from the standpoint of the contribution of genetic factors to his creative work. It was shown that Dostoevsky's ancestry can not be a source of hereditary predisposition to epilepsy. The available data question the genuine nature of his disease. Characteristic of Dostoevsky's ancestry is the wide occurrence of "creativeness" genes. Their cumulation together with a number of other factors verified in the writer can account for the phenomenon of his genius. PMID:26168600

  5. Cognitive Ability, Self-Assessed Intelligence and Personality: Common Genetic but Independent Environmental Aetiologies

    ERIC Educational Resources Information Center

    Bratko, Denis; Butkovic, Ana; Vukasovic, Tena; Chamorro-Premuzic, Tomas; von Stumm, Sophie

    2012-01-01

    Self-perceived abilities (SPA), which play an important role in academic achievement, have been recently reported to be fully attributable to genetic and non-shared environmental influences. To replicate and extend this finding, 732 Croatian twins (15-22 years old) were assessed on cognitive ability, self-assessed intelligence (SAI), and Five…

  6. Genes and personality characteristics: Possible association of the genetic background with intelligence and decision making in 830 Caucasian Greek subjects.

    PubMed

    Marinos, Georgios; Naziris, Nikolaos; Limnaios, Stefanos A; Drakoulis, Nikolaos

    2014-12-01

    It is well known that intelligence consists of a variety of interactional and cognitive skills and abilities (e.g. tradecraft; critical and divergent thinking; perception of foreign information). Decision making is defined as the conscious choice between given options, relating to a problem. Both genetic background and environment comprise key elements for personality characteristics of the human being. The aim of this study is to determine the frequency distribution of rs324420, rs1800497, rs363050, rs6265, rs1328674 polymorphisms known to be involved in individual personality characteristics, in 830 Greek Subjects. The study is independent from direct clinical measurements (e.g. IQ measurements; physiological tests). The population of the volunteers is described, based on genotype, sex, with the respective gene frequencies, including the Minor Allele Frequency (MAF). A potential influence of the volunteer gender with the above characteristics (based on genotypes and alleles) is examined and finally, volunteers are classified as follows: A volunteer receives + 1, for each genotype/allele, which enhances his intelligence or his decision-making. In contrast, he receives - 1, for each genotype/allele, which relegates the individual characteristic. No statistically significant gender-characteristics correlation is observed. According to their genetic profile, a rate of 92.5%, of the volunteers may be characterized by prudence and temperance of thought, with only a small proportion of them (7.5%) may be classified as genetically spontaneous and adventurous. Regarding intelligence, the study population may lay around average and a little above it, at a rate of 96.3%, while the edges of the scale suggest only a 0.5% of the volunteers, who, although the "smartest", somehow seem to lack prudence. In conclusion, individuals with low cognitive ability may be more prudent than others and vice versa, while the "smartest" ones tend to be more risky, in decision

  7. Epidemiology, Comorbidity, and Behavioral Genetics of Antisocial Personality Disorder and Psychopathy

    PubMed Central

    Werner, Kimberly B.; Few, Lauren R.; Bucholz, Kathleen K.

    2015-01-01

    Psychopathy is theorized as a disorder of personality and affective deficits while antisocial personality disorder (ASPD) diagnosis is primarily behaviorally based. While ASPD and psychopathy are similar and are highly comorbid with each other, they are not synonymous. ASPD has been well studied in community samples with estimates of its lifetime prevalence ranging from 1-4% of the general population.4,5 In contrast, psychopathy is almost exclusively investigated within criminal populations so that its prevalence in the general population has been inferred by psychopathic traits rather than disorder (1%). Differences in etiology and comorbidity with each other and other psychiatric disorders of these two disorders are also evident. The current article will briefly review the epidemiology, etiology, and comorbidity of ASPD and psychopathy, focusing predominately on research completed in community and clinical populations. This paper aims to highlight ASPD and psychopathy as related, but distinct disorders. PMID:26594067

  8. Genetic and molecular alterations in pancreatic cancer: Implications for personalized medicine

    PubMed Central

    Fang, Yantian; Yao, Qizhi; Chen, Zongyou; Xiang, Jianbin; William, Fisher E.; Gibbs, Richard A.; Chen, Changyi

    2013-01-01

    Recent advances in human genomics and biotechnologies have profound impacts on medical research and clinical practice. Individual genomic information, including DNA sequences and gene expression profiles, can be used for prediction, prevention, diagnosis, and treatment for many complex diseases. Personalized medicine attempts to tailor medical care to individual patients by incorporating their genomic information. In a case of pancreatic cancer, the fourth leading cause of cancer death in the United States, alteration in many genes as well as molecular profiles in blood, pancreas tissue, and pancreas juice has recently been discovered to be closely associated with tumorigenesis or prognosis of the cancer. This review aims to summarize recent advances of important genes, proteins, and microRNAs that play a critical role in the pathogenesis of pancreatic cancer, and to provide implications for personalized medicine in pancreatic cancer. PMID:24172537

  9. Only authorized persons admitted: the quantitative genetics of health and disease.

    PubMed

    Murphy, E A

    1981-03-01

    The scope of quantitation in genetics ranges from traits that are defined by quantity to those that can be quantitated not at all, or only with difficulty and on artificial scales of specious interpretability. Since disease is a complex process, there is a serious risk that a projection of it on an arbitrary system of measurements may be insensitive or frankly misleading. A hypothetical but plausible example (the "brittle model") of a purely genetic trait (but one with zero heritability) is presented. In addition an illustration is given that competition in pathways to an endpoint (such as death) may lead to a counterintuitive reversal of the positive skewness in the component processes (the "bingo model"). These paradoxical results reflect the perils of inadequate descriptors and an irrational reliance on stock methods of looking at the inheritance of disease. Well-known studies by Brown and Goldstein, Knudson, Paigen. Armitage and Doll, and Moolgavkar are cited as examples of how medical geneticists might rationally approach the genetics of common and complicated diseases. PMID:7206406

  10. Saul R. Korey Lecture. Molecular genetics of Tay-Sachs and related disorders: a personal account.

    PubMed

    Suzuki, K

    1994-07-01

    The history of human genetic lysosomal disorders began in 1881 with the description of what is now known as Tay-Sachs disease. In the early 1960s, when I entered the field while I was a neurology resident, the first phase of studies of lysosomal disorders was being replaced with the second analytical biochemistry phase. Saul Korey, the first Chairman of the Department of Neurology, Albert Einstein College of Medicine, initiated the first integrated approach with a team consisting of clinical neurologists, neuropathologists, electron microscopists, cell biologists, organic chemists, and enzymologists. Despite his tragic death in 1963 in his mid-forties, the field flourished along the line of his vision through the third enzymology phase to the fourth and current molecular biology phase. The concept of Tay-Sachs disease as the only ganglioside storage disease has expanded to two forms of gangliosidoses, GM1- and GM2-gangliosidoses, and the latter into three distinct genetic disorders. Tay-Sachs disease, Sandhoff disease and the GM2 activator protein deficiency. More recently, all three genes coding for the three proteins each responsible for distinct genetic forms of GM2-gangliosidosis--beta-hexosaminidase alpha and beta subunits and the GM2 activator protein--have been cloned and many disease-causing mutations have been identified. We have reached the halfway point in our quest for eventual understanding of the pathogenesis and effective treatment of these disorders, starting from the clinical phenotype through biochemistry to the gene. With this new knowledge on the gene level, we should be tracing the route back to enzymology, biology and pathogenetic mechanism of these disorders in the years to come.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8021707

  11. Incremental effect for antisocial personality disorder genetic risk combining 5-HTTLPR and 5-HTTVNTR polymorphisms.

    PubMed

    Garcia, Luis F; Aluja, Anton; Fibla, Joan; Cuevas, Lara; García, Oscar

    2010-05-15

    As the serotonin transporter gene (SLC6A4 or 5-HTT) is a key regulator of central serotonergic activity, several association studies between Antisocial Personality Disorder (APD) and the SLC6A4 polymorphisms have been conducted in the last decade. In the present study, the role of both 5-HTTLPR and 5-HTTVNTR polymorphisms of the SLC6A4 gene in APD is investigated. A sample of 147 male inmates was analyzed. APD was assessed by Aluja's Antisocial Personality Disorder Scale, a measure that correlates 0.73 with the dimensional score of DSM-IV APD and 0.62 with factor II of the Psychopathy Checklist-Revised. Inmates presenting both 5-HTTLPR S/S+S/L and 5-HTTVNTR 12/12 had a higher risk of being classified in the APD group (Odds ratio=3.48). The results also showed that the genotype and haplotype distribution was more dissimilar when extreme groups were compared with odds ratios up to 6.50. Our results supported that, in addition to the widely investigated 5-HTTLPR polymorphism, the 5-HTTVNTR polymorphism might be an interesting candidate for association studies with APD. Results also suggested that previous failures to replicate the association between serotonin transporter gene polymorphisms and APD, or similar phenotypes, could have been due to an under-representation of extremely high APD subjects in the samples analyzed. PMID:20363030

  12. Plasma BDNF Concentration, Val66Met Genetic Variant, and Depression-Related Personality Traits

    PubMed Central

    Terracciano, Antonio; Martin, Bronwen; Ansari, David; Tanaka, Toshiko; Ferrucci, Luigi; Maudsley, Stuart; Mattson, Mark P.; Costa, Paul T.

    2010-01-01

    Brain derived neurotrophic factor (BDNF) regulates synaptic plasticity and neurogenesis, and BDNF plasma and serum levels have been associated with depression, Alzheimer's disease, and other psychiatric and neurodegenerative disorders. In a relatively large community sample, drawn from the Baltimore Longitudinal Study of Aging (BLSA), we examine whether BDNF plasma concentration is associated with the Val66Met functional polymorphism of the BDNF gene (n = 335) and with depression-related personality traits assessed with the NEO-PI-R (n = 391). Plasma concentration of BDNF was not associated with the Val66Met variant in either men or women. However, in men, but not in women, BDNF plasma level was associated with personality traits linked to depression. Contrary to the notion that low BDNF is associated with negative outcomes, we found lower plasma levels in men who score lower on depression and vulnerability to stress (two facets of Neuroticism) and higher on Conscientiousness and Extraversion. These findings challenge the prevailing hypothesis that lower peripheral levels of BDNF are a marker of depression. PMID:20345896

  13. Borderline personality disorder

    MedlinePlus

    Personality disorder - borderline ... Cause of borderline personality disorder (BPD) is unknown. Genetic, family, and social factors are thought to play roles. Risk factors for BPD include: Abandonment ...

  14. Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis

    PubMed Central

    Majumdar, Gaurav; Majumdar, Abha; Lall, Meena; Verma, Ishwar C.; Upadhyaya, Kailash C.

    2016-01-01

    CONTEXT: A majority of human embryos produced in vitro are aneuploid, especially in couples undergoing in vitro fertilization (IVF) with poor prognosis. Preimplantation genetic screening (PGS) for all 24 chromosomes has the potential to select the most euploid embryos for transfer in such cases. AIM: To study the efficacy of PGS for all 24 chromosomes by microarray comparative genomic hybridization (array CGH) in Indian couples undergoing IVF cycles with poor prognosis. SETTINGS AND DESIGN: A retrospective, case–control study was undertaken in an institution-based tertiary care IVF center to compare the clinical outcomes of twenty patients, who underwent 21 PGS cycles with poor prognosis, with 128 non-PGS patients in the control group, with the same inclusion criterion as for the PGS group. MATERIALS AND METHODS: Single cells were obtained by laser-assisted embryo biopsy from day 3 embryos and subsequently analyzed by array CGH for all 24 chromosomes. Once the array CGH results were available on the morning of day 5, only chromosomally normal embryos that had progressed to blastocyst stage were transferred. RESULTS: The implantation rate and clinical pregnancy rate (PR) per transfer were found to be significantly higher in the PGS group than in the control group (63.2% vs. 26.2%, P = 0.001 and 73.3% vs. 36.7%, P = 0.006, respectively), while the multiple PRs sharply declined from 31.9% to 9.1% in the PGS group. CONCLUSIONS: In this pilot study, we have shown that PGS by array CGH can improve the clinical outcome in patients undergoing IVF with poor prognosis. PMID:27382234

  15. Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.

    PubMed

    Kidd, Jeffrey M; Gravel, Simon; Byrnes, Jake; Moreno-Estrada, Andres; Musharoff, Shaila; Bryc, Katarzyna; Degenhardt, Jeremiah D; Brisbin, Abra; Sheth, Vrunda; Chen, Rong; McLaughlin, Stephen F; Peckham, Heather E; Omberg, Larsson; Bormann Chung, Christina A; Stanley, Sarah; Pearlstein, Kevin; Levandowsky, Elizabeth; Acevedo-Acevedo, Suehelay; Auton, Adam; Keinan, Alon; Acuña-Alonzo, Victor; Barquera-Lozano, Rodrigo; Canizales-Quinteros, Samuel; Eng, Celeste; Burchard, Esteban G; Russell, Archie; Reynolds, Andy; Clark, Andrew G; Reese, Martin G; Lincoln, Stephen E; Butte, Atul J; De La Vega, Francisco M; Bustamante, Carlos D

    2012-10-01

    Full sequencing of individual human genomes has greatly expanded our understanding of human genetic variation and population history. Here, we present a systematic analysis of 50 human genomes from 11 diverse global populations sequenced at high coverage. Our sample includes 12 individuals who have admixed ancestry and who have varying degrees of recent (within the last 500 years) African, Native American, and European ancestry. We found over 21 million single-nucleotide variants that contribute to a 1.75-fold range in nucleotide heterozygosity across diverse human genomes. This heterozygosity ranged from a high of one heterozygous site per kilobase in west African genomes to a low of 0.57 heterozygous sites per kilobase in segments inferred to have diploid Native American ancestry from the genomes of Mexican and Puerto Rican individuals. We show evidence of all three continental ancestries in the genomes of Mexican, Puerto Rican, and African American populations, and the genome-wide statistics are highly consistent across individuals from a population once ancestry proportions have been accounted for. Using a generalized linear model, we identified subtle variations across populations in the proportion of neutral versus deleterious variation and found that genome-wide statistics vary in admixed populations even once ancestry proportions have been factored in. We further infer that multiple periods of gene flow shaped the diversity of admixed populations in the Americas-70% of the European ancestry in today's African Americans dates back to European gene flow happening only 7-8 generations ago. PMID:23040495

  16. Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation

    PubMed Central

    Kidd, Jeffrey M.; Gravel, Simon; Byrnes, Jake; Moreno-Estrada, Andres; Musharoff, Shaila; Bryc, Katarzyna; Degenhardt, Jeremiah D.; Brisbin, Abra; Sheth, Vrunda; Chen, Rong; McLaughlin, Stephen F.; Peckham, Heather E.; Omberg, Larsson; Bormann Chung, Christina A.; Stanley, Sarah; Pearlstein, Kevin; Levandowsky, Elizabeth; Acevedo-Acevedo, Suehelay; Auton, Adam; Keinan, Alon; Acuña-Alonzo, Victor; Barquera-Lozano, Rodrigo; Canizales-Quinteros, Samuel; Eng, Celeste; Burchard, Esteban G.; Russell, Archie; Reynolds, Andy; Clark, Andrew G.; Reese, Martin G.; Lincoln, Stephen E.; Butte, Atul J.; De La Vega, Francisco M.; Bustamante, Carlos D.

    2012-01-01

    Full sequencing of individual human genomes has greatly expanded our understanding of human genetic variation and population history. Here, we present a systematic analysis of 50 human genomes from 11 diverse global populations sequenced at high coverage. Our sample includes 12 individuals who have admixed ancestry and who have varying degrees of recent (within the last 500 years) African, Native American, and European ancestry. We found over 21 million single-nucleotide variants that contribute to a 1.75-fold range in nucleotide heterozygosity across diverse human genomes. This heterozygosity ranged from a high of one heterozygous site per kilobase in west African genomes to a low of 0.57 heterozygous sites per kilobase in segments inferred to have diploid Native American ancestry from the genomes of Mexican and Puerto Rican individuals. We show evidence of all three continental ancestries in the genomes of Mexican, Puerto Rican, and African American populations, and the genome-wide statistics are highly consistent across individuals from a population once ancestry proportions have been accounted for. Using a generalized linear model, we identified subtle variations across populations in the proportion of neutral versus deleterious variation and found that genome-wide statistics vary in admixed populations even once ancestry proportions have been factored in. We further infer that multiple periods of gene flow shaped the diversity of admixed populations in the Americas—70% of the European ancestry in today’s African Americans dates back to European gene flow happening only 7–8 generations ago. PMID:23040495

  17. Changes in Physical Activity Following a Genetic-Based Internet-Delivered Personalized Intervention: Randomized Controlled Trial (Food4Me)

    PubMed Central

    Livingstone, Katherine M; Fallaize, Rosalind; Kolossa, Silvia; Hallmann, Jacqueline; San-Cristobal, Rodrigo; Navas-Carretero, Santiago; O'Donovan, Clare B; Woolhead, Clara; Forster, Hannah; Moschonis, George; Lambrinou, Christina-Paulina; Surwillo, Agnieszka; Godlewska, Magdalena; Hoonhout, Jettie; Goris, Annelies; Macready, Anna L; Walsh, Marianne C; Gibney, Eileen R; Brennan, Lorraine; Manios, Yannis; Traczyk, Iwona; Drevon, Christian A; Lovegrove, Julie A; Martinez, J Alfredo; Daniel, Hannelore; Gibney, Michael J; Mathers, John C; Saris, Wim HM

    2016-01-01

    Background There is evidence that physical activity (PA) can attenuate the influence of the fat mass- and obesity-associated (FTO) genotype on the risk to develop obesity. However, whether providing personalized information on FTO genotype leads to changes in PA is unknown. Objective The purpose of this study was to determine if disclosing FTO risk had an impact on change in PA following a 6-month intervention. Methods The single nucleotide polymorphism (SNP) rs9939609 in the FTO gene was genotyped in 1279 participants of the Food4Me study, a four-arm, Web-based randomized controlled trial (RCT) in 7 European countries on the effects of personalized advice on nutrition and PA. PA was measured objectively using a TracmorD accelerometer and was self-reported using the Baecke questionnaire at baseline and 6 months. Differences in baseline PA variables between risk (AA and AT genotypes) and nonrisk (TT genotype) carriers were tested using multiple linear regression. Impact of FTO risk disclosure on PA change at 6 months was assessed among participants with inadequate PA, by including an interaction term in the model: disclosure (yes/no) × FTO risk (yes/no). Results At baseline, data on PA were available for 874 and 405 participants with the risk and nonrisk FTO genotypes, respectively. There were no significant differences in objectively measured or self-reported baseline PA between risk and nonrisk carriers. A total of 807 (72.05%) of the participants out of 1120 in the personalized groups were encouraged to increase PA at baseline. Knowledge of FTO risk had no impact on PA in either risk or nonrisk carriers after the 6-month intervention. Attrition was higher in nonrisk participants for whom genotype was disclosed (P=.01) compared with their at-risk counterparts. Conclusions No association between baseline PA and FTO risk genotype was observed. There was no added benefit of disclosing FTO risk on changes in PA in this personalized intervention. Further RCT studies

  18. Immunohistochemical, genetic and epigenetic profiles of hereditary and triple negative breast cancers. Relevance in personalized medicine

    PubMed Central

    Murria, Rosa; Palanca, Sarai; de Juan, Inmaculada; Alenda, Cristina; Egoavil, Cecilia; Seguí, Francisco J; García-Casado, Zaida; Juan, María J; Sánchez, Ana B; Segura, Ángel; Santaballa, Ana; Chirivella, Isabel; Llop, Marta; Pérez, Gema; Barragán, Eva; Salas, Dolores; Bolufer, Pascual

    2015-01-01

    This study aims to identify the profile of immunohistochemical (IHC) parameters, copy number aberrations (CNAs) and epigenetic alterations [promoter methylation (PM) and miR expression] related to hereditary (H) and triple negative (TN) breast cancer (BC). This profile could be of relevance for guiding tumor response to treatment with targeting therapy. The study comprises 278 formalin fixed paraffin-embedded BCs divided into two groups: H group, including 88 hereditary BC (HBC) and 190 non hereditary (NHBC), and TN group, containing 79 TNBC and 187 non TNBC (NTNBC). We assessed IHC parameters (Ki67, ER, PR, HER2, CK5/6, CK18 and Cadherin-E), CNA of 20 BC related genes, and PM of 24 tumor suppressor genes employing MLPA/MS-MLPA (MRC Holland, Amsterdam). MiR-4417, miR-423-3p, miR-590-5p and miR-187-3p expression was assessed by quantitative RT-PCR (Applied Biosystems). Binary logistic regression was applied to select the parameters that better differentiate the HBC or TN groups. For HBC we found that, ER expression, ERBB2 CNA and PM in RASSF1 and TIMP3 were associated with NHBC whereas; MYC and AURKA CNA were linked to HBC. For TNBC, we found that CDC6 CNA, GSTP1 and RASSF1 PM and miR-423-3p hyperexpression were characteristic of NTNBC, while MYC aberrations, BRCA1 hypermethylation and miR-590-5p and miR-4417 hyperexpression were more indicative of TNBC. The selected markers allow establishing BC subtypes, which are characterized by showing similar etiopathogenetic mechanisms, some of them being molecular targets for known drugs or possible molecular targets. These results could be the basis to implement a personalized therapy. PMID:26328265

  19. Prediction of alcohol drinking in adolescents: Personality-traits, behavior, brain responses, and genetic variations in the context of reward sensitivity.

    PubMed

    Heinrich, Angela; Müller, Kathrin U; Banaschewski, Tobias; Barker, Gareth J; Bokde, Arun L W; Bromberg, Uli; Büchel, Christian; Conrod, Patricia; Fauth-Bühler, Mira; Papadopoulos, Dimitri; Gallinat, Jürgen; Garavan, Hugh; Gowland, Penny; Heinz, Andreas; Ittermann, Bernd; Mann, Karl; Martinot, Jean-Luc; Paus, Tomáš; Pausova, Zdenka; Smolka, Michael; Ströhle, Andreas; Rietschel, Marcella; Flor, Herta; Schumann, Gunter; Nees, Frauke

    2016-07-01

    Adolescence is a time that can set the course of alcohol abuse later in life. Sensitivity to reward on multiple levels is a major factor in this development. We examined 736 adolescents from the IMAGEN longitudinal study for alcohol drinking during early (mean age=14.37) and again later (mean age=16.45) adolescence. Conducting structural equation modeling we evaluated the contribution of reward-related personality traits, behavior, brain responses and candidate genes. Personality seems to be most important in explaining alcohol drinking in early adolescence. However, genetic variations in ANKK1 (rs1800497) and HOMER1 (rs7713917) play an equal role in predicting alcohol drinking two years later and are most important in predicting the increase in alcohol consumption. We hypothesize that the initiation of alcohol use may be driven more strongly by personality while the transition to increased alcohol use is more genetically influenced. PMID:27180911

  20. Association between genetic polymorphisms of the β1-adrenergic receptor and sensitivity to pain and fentanyl in patients undergoing painful cosmetic surgery.

    PubMed

    Moriyama, Ayako; Nishizawa, Daisuke; Kasai, Shinya; Hasegawa, Junko; Fukuda, Ken-ichi; Nagashima, Makoto; Katoh, Ryoji; Ikeda, Kazutaka

    2013-01-01

    Individual differences in the sensitivity to fentanyl, a widely used opioid analgesic, can hamper effective pain treatment. The adrenergic system is reportedly involved in the mechanisms of pain and analgesia. Here, we focused on one of the adrenergic receptor genes, ADRB1, and analyzed the influence of single-nucleotide polymorphisms (SNPs) in the ADRB1 gene on individual differences in pain and analgesic sensitivity. We examined associations between pain and fentanyl sensitivity and the two SNPs, A145G and G1165C, in the human ADRB1 gene in 216 Japanese patients who underwent painful orofacial cosmetic surgery, including bone dissection. The patients who carried the A-allele of the A145G SNP were more sensitive to cold pressor- induced pain than those who did not carry this allele, especially in male patients. The analgesic effect was significantly less in females who carried the G-allele of the G1165C SNP than the females who did not carry the G-allele. The haplotype analysis revealed a significant decrease in 24-h postoperative fentanyl use in female 145A/1165C haplotype carriers. These results suggest that SNPs in the ADRB1 gene are associated with individual differences in pain and analgesic sensitivity, and analyzing these SNPs may promote personalized pain treatment in the future. PMID:23257656

  1. ReCAP: Economic Evaluation Alongside a Clinical Trial of Telephone Versus In-Person Genetic Counseling for BRCA1/2 Mutations in Geographically Underserved Areas

    PubMed Central

    Chang, Yaojen; Near, Aimee M.; Butler, Karin M.; Hoeffken, Amanda; Edwards, Sandra L.; Stroup, Antoinette M.; Kohlmann, Wendy; Gammon, Amanda; Buys, Saundra S.; Schwartz, Marc D.; Peshkin, Beth N.; Kinney, Anita Y.

    2016-01-01

    QUESTION ASKED: Many individuals at risk for BRCA1 or BRCA2 mutations do not have access to trained genetic counselors. This study conducted an economic evaluation alongside a clinical trial of approaches to extending the reach of genetic testing services to geographically underserved populations. SUMMARY ANSWER: Telephone genetic counseling was less expensive than in-person services delivered in the community per individual counseled, individual tested, or mutation detected. For example, it cost an average of $120 (range, $80 to $200) per person counseled in the telephone counseling arm compared with $270 (range, $180 to $400) for in-person counseling. One-way sensitivity analyses showed that the average cost per participant remained consistently lower in the telephone counseling arm than in the in-person counseling arm across the range values for each cost parameter and for each study outcome. METHODS: Microcosting was used to enumerate resources for counseling delivered at 14 primary care clinics (nine geographically remote, five urban) in Utah. Staff time and travel, space, overhead, patient time costs, and test costs were calculated on the basis of actual intervention use and valued using national data for wage rates, space, and overhead. We calculated the costs per arm for pretest counseling, uptake of BRCA1/BRCA2 testing, per mutation detected, and per completion of post-test genetic counseling at 6 months afterrandomization. Costs and effects were not discounted. BIAS, CONFOUNDING FACTOR(S), DRAWBACKS: The findings may not be generalizable to women in other geographically underserved regions in terms of socio-demographic characteristics and mutation risk. Next, we included only costs related to genetic counseling and testing. Counseling and testing may affect other costs, such as those related to increased or decreased short-term use of medical care or long-term health behaviors. REAL-LIFE IMPLICATIONS: Telephone counseling is a cost-efficient method to

  2. Some personality traits converge gradually by long-term partnership through the lifecourse--genetic and environmental structure of Cloninger's temperament and character dimensions.

    PubMed

    Yang, Sarah; Sung, Joohon; Kim, Ji-Hae; Song, Yun-Mi; Lee, Kayoung; Kim, Han-Na; Kim, Hyung-Lae; Cloninger, C Robert

    2015-04-01

    Temperament and Character Inventory (TCI) is a comprehensive personality inventory that is widely used in behavioral genetics. The original theory suggested that temperament traits were under genetic influences, whereas character traits were gradually built by an interaction between temperaments and environment until early adulthood. This study attempted to evaluate TCI by examining the genetic and environmental contributions to personality with particular attention to spousal effects. From 687 families, a total of 3459 Korean adult individuals completed the survey. Among them, there were 542 Monozygotic (MZ) twin pairs and 122 Dizygotic twin pairs. Intraclass correlation coefficients (ICCs) and heritability were calculated to examine the genetic and shared environmental contributions to personality. Moderate genetic contributions (0.17-0.43) were found for all TCI traits along with the evidence of shared environment (0.11-0.31) for harm avoidance (HA) and all characters. The ICCs of TCI in MZ pairs ranged 0.36-0.46. Spouses' had little resemblance for temperament, whereas for character dimensions, spouses (0.27-0.38) were more similar than first degree relatives (0.10-0.29). Resemblance between spouses increased with duration of marriage for most characters and HA. When the growing similarities between spouses were compared with their MZ cotwins' for subgroup of 81 trios, self-directedness (SD) of character showed even more similarities toward their spouses than cotwins as partnership duration increased (r = 0.32). Our findings with regard to change in SD into late adulthood support the psychobiological theory of temperament and character, which suggests that both personality domains have distinct developmental trajectories despite equally large genetic influences. PMID:25748752

  3. Genetic Testing for ALS

    MedlinePlus

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic ... guarantee a person will develop symptoms of ALS. Genetic Counseling If there is more than one person ...

  4. Antisocial personality disorder

    MedlinePlus

    Sociopathic personality; Sociopathy; Personality disorder - antisocial ... Cause of antisocial personality disorder is unknown. Genetic factors and environmental factors, such as child abuse, are believed to contribute to the development ...

  5. Global connectivity of hub residues in Oncoprotein structures encodes genetic factors dictating personalized drug response to targeted Cancer therapy

    NASA Astrophysics Data System (ADS)

    Soundararajan, Venky; Aravamudan, Murali

    2014-12-01

    The efficacy and mechanisms of therapeutic action are largely described by atomic bonds and interactions local to drug binding sites. Here we introduce global connectivity analysis as a high-throughput computational assay of therapeutic action - inspired by the Google page rank algorithm that unearths most ``globally connected'' websites from the information-dense world wide web (WWW). We execute short timescale (30 ps) molecular dynamics simulations with high sampling frequency (0.01 ps), to identify amino acid residue hubs whose global connectivity dynamics are characteristic of the ligand or mutation associated with the target protein. We find that unexpected allosteric hubs - up to 20Å from the ATP binding site, but within 5Å of the phosphorylation site - encode the Gibbs free energy of inhibition (ΔGinhibition) for select protein kinase-targeted cancer therapeutics. We further find that clinically relevant somatic cancer mutations implicated in both drug resistance and personalized drug sensitivity can be predicted in a high-throughput fashion. Our results establish global connectivity analysis as a potent assay of protein functional modulation. This sets the stage for unearthing disease-causal exome mutations and motivates forecast of clinical drug response on a patient-by-patient basis. We suggest incorporation of structure-guided genetic inference assays into pharmaceutical and healthcare Oncology workflows.

  6. Global connectivity of hub residues in Oncoprotein structures encodes genetic factors dictating personalized drug response to targeted Cancer therapy

    PubMed Central

    Soundararajan, Venky; Aravamudan, Murali

    2014-01-01

    The efficacy and mechanisms of therapeutic action are largely described by atomic bonds and interactions local to drug binding sites. Here we introduce global connectivity analysis as a high-throughput computational assay of therapeutic action – inspired by the Google page rank algorithm that unearths most “globally connected” websites from the information-dense world wide web (WWW). We execute short timescale (30 ps) molecular dynamics simulations with high sampling frequency (0.01 ps), to identify amino acid residue hubs whose global connectivity dynamics are characteristic of the ligand or mutation associated with the target protein. We find that unexpected allosteric hubs – up to 20Å from the ATP binding site, but within 5Å of the phosphorylation site – encode the Gibbs free energy of inhibition (ΔGinhibition) for select protein kinase-targeted cancer therapeutics. We further find that clinically relevant somatic cancer mutations implicated in both drug resistance and personalized drug sensitivity can be predicted in a high-throughput fashion. Our results establish global connectivity analysis as a potent assay of protein functional modulation. This sets the stage for unearthing disease-causal exome mutations and motivates forecast of clinical drug response on a patient-by-patient basis. We suggest incorporation of structure-guided genetic inference assays into pharmaceutical and healthcare Oncology workflows. PMID:25465236

  7. Personalized ophthalmology

    PubMed Central

    Porter, LF; Black, GCM

    2014-01-01

    Porter L.F., Black G.C.M. Personalized ophthalmology. Clin Genet 2014: 86: 1–11. © 2014 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd., 2014 Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replacement therapies for some inherited monogenic eye diseases. It also promises to alter prediction, diagnosis and management of the complex disease age-related macular degeneration. Personalized ophthalmology is underpinned by an understanding of the molecular basis of eye disease. Two important areas of focus are required for adoption of personalized approaches: disease stratification and individualization. Disease stratification relies on phenotypic and genetic assessment leading to molecular diagnosis; individualization encompasses all aspects of patient management from optimized genetic counseling and conventional therapies to trials of novel DNA-based therapies. This review discusses the clinical implications of these twin strategies. Advantages and implications of genetic testing for patients with inherited eye diseases, choice of molecular diagnostic modality, drivers for adoption of personalized ophthalmology, service planning implications, ethical considerations and future challenges are considered. Indeed, whilst many difficulties remain, personalized ophthalmology truly has the potential to revolutionize the specialty. PMID:24665880

  8. Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory.

    PubMed

    van den Berg, Stéphanie M; de Moor, Marleen H M; McGue, Matt; Pettersson, Erik; Terracciano, Antonio; Verweij, Karin J H; Amin, Najaf; Derringer, Jaime; Esko, Tõnu; van Grootheest, Gerard; Hansell, Narelle K; Huffman, Jennifer; Konte, Bettina; Lahti, Jari; Luciano, Michelle; Matteson, Lindsay K; Viktorin, Alexander; Wouda, Jasper; Agrawal, Arpana; Allik, Jüri; Bierut, Laura; Broms, Ulla; Campbell, Harry; Smith, George Davey; Eriksson, Johan G; Ferrucci, Luigi; Franke, Barbera; Fox, Jean-Paul; de Geus, Eco J C; Giegling, Ina; Gow, Alan J; Grucza, Richard; Hartmann, Annette M; Heath, Andrew C; Heikkilä, Kauko; Iacono, William G; Janzing, Joost; Jokela, Markus; Kiemeney, Lambertus; Lehtimäki, Terho; Madden, Pamela A F; Magnusson, Patrik K E; Northstone, Kate; Nutile, Teresa; Ouwens, Klaasjan G; Palotie, Aarno; Pattie, Alison; Pesonen, Anu-Katriina; Polasek, Ozren; Pulkkinen, Lea; Pulkki-Råback, Laura; Raitakari, Olli T; Realo, Anu; Rose, Richard J; Ruggiero, Daniela; Seppälä, Ilkka; Slutske, Wendy S; Smyth, David C; Sorice, Rossella; Starr, John M; Sutin, Angelina R; Tanaka, Toshiko; Verhagen, Josine; Vermeulen, Sita; Vuoksimaa, Eero; Widen, Elisabeth; Willemsen, Gonneke; Wright, Margaret J; Zgaga, Lina; Rujescu, Dan; Metspalu, Andres; Wilson, James F; Ciullo, Marina; Hayward, Caroline; Rudan, Igor; Deary, Ian J; Räikkönen, Katri; Arias Vasquez, Alejandro; Costa, Paul T; Keltikangas-Järvinen, Liisa; van Duijn, Cornelia M; Penninx, Brenda W J H; Krueger, Robert F; Evans, David M; Kaprio, Jaakko; Pedersen, Nancy L; Martin, Nicholas G; Boomsma, Dorret I

    2014-07-01

    Mega- or meta-analytic studies (e.g. genome-wide association studies) are increasingly used in behavior genetics. An issue in such studies is that phenotypes are often measured by different instruments across study cohorts, requiring harmonization of measures so that more powerful fixed effect meta-analyses can be employed. Within the Genetics of Personality Consortium, we demonstrate for two clinically relevant personality traits, Neuroticism and Extraversion, how Item-Response Theory (IRT) can be applied to map item data from different inventories to the same underlying constructs. Personality item data were analyzed in >160,000 individuals from 23 cohorts across Europe, USA and Australia in which Neuroticism and Extraversion were assessed by nine different personality inventories. Results showed that harmonization was very successful for most personality inventories and moderately successful for some. Neuroticism and Extraversion inventories were largely measurement invariant across cohorts, in particular when comparing cohorts from countries where the same language is spoken. The IRT-based scores for Neuroticism and Extraversion were heritable (48 and 49 %, respectively, based on a meta-analysis of six twin cohorts, total N = 29,496 and 29,501 twin pairs, respectively) with a significant part of the heritability due to non-additive genetic factors. For Extraversion, these genetic factors qualitatively differ across sexes. We showed that our IRT method can lead to a large increase in sample size and therefore statistical power. The IRT approach may be applied to any mega- or meta-analytic study in which item-based behavioral measures need to be harmonized. PMID:24828478

  9. The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data

    PubMed Central

    Middeldorp, C M; de Moor, M H M; McGrath, L M; Gordon, S D; Blackwood, D H; Costa, P T; Terracciano, A; Krueger, R F; de Geus, E J C; Nyholt, D R; Tanaka, T; Esko, T; Madden, P A F; Derringer, J; Amin, N; Willemsen, G; Hottenga, J-J; Distel, M A; Uda, M; Sanna, S; Spinhoven, P; Hartman, C A; Ripke, S; Sullivan, P F; Realo, A; Allik, J; Heath, A C; Pergadia, M L; Agrawal, A; Lin, P; Grucza, R A; Widen, E; Cousminer, D L; Eriksson, J G; Palotie, A; Barnett, J H; Lee, P H; Luciano, M; Tenesa, A; Davies, G; Lopez, L M; Hansell, N K; Medland, S E; Ferrucci, L; Schlessinger, D; Montgomery, G W; Wright, M J; Aulchenko, Y S; Janssens, A C J W; Oostra, B A; Metspalu, A; Abecasis, G R; Deary, I J; Räikkönen, K; Bierut, L J; Martin, N G; Wray, N R; van Duijn, C M; Smoller, J W; Penninx, B W J H; Boomsma, D I

    2011-01-01

    The relationship between major depressive disorder (MDD) and bipolar disorder (BD) remains controversial. Previous research has reported differences and similarities in risk factors for MDD and BD, such as predisposing personality traits. For example, high neuroticism is related to both disorders, whereas openness to experience is specific for BD. This study examined the genetic association between personality and MDD and BD by applying polygenic scores for neuroticism, extraversion, openness to experience, agreeableness and conscientiousness to both disorders. Polygenic scores reflect the weighted sum of multiple single-nucleotide polymorphism alleles associated with the trait for an individual and were based on a meta-analysis of genome-wide association studies for personality traits including 13 835 subjects. Polygenic scores were tested for MDD in the combined Genetic Association Information Network (GAIN-MDD) and MDD2000+ samples (N=8921) and for BD in the combined Systematic Treatment Enhancement Program for Bipolar Disorder and Wellcome Trust Case–Control Consortium samples (N=6329) using logistic regression analyses. At the phenotypic level, personality dimensions were associated with MDD and BD. Polygenic neuroticism scores were significantly positively associated with MDD, whereas polygenic extraversion scores were significantly positively associated with BD. The explained variance of MDD and BD, ∼0.1%, was highly comparable to the variance explained by the polygenic personality scores in the corresponding personality traits themselves (between 0.1 and 0.4%). This indicates that the proportions of variance explained in mood disorders are at the upper limit of what could have been expected. This study suggests shared genetic risk factors for neuroticism and MDD on the one hand and for extraversion and BD on the other. PMID:22833196

  10. The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data.

    PubMed

    Middeldorp, C M; de Moor, M H M; McGrath, L M; Gordon, S D; Blackwood, D H; Costa, P T; Terracciano, A; Krueger, R F; de Geus, E J C; Nyholt, D R; Tanaka, T; Esko, T; Madden, P A F; Derringer, J; Amin, N; Willemsen, G; Hottenga, J-J; Distel, M A; Uda, M; Sanna, S; Spinhoven, P; Hartman, C A; Ripke, S; Sullivan, P F; Realo, A; Allik, J; Heath, A C; Pergadia, M L; Agrawal, A; Lin, P; Grucza, R A; Widen, E; Cousminer, D L; Eriksson, J G; Palotie, A; Barnett, J H; Lee, P H; Luciano, M; Tenesa, A; Davies, G; Lopez, L M; Hansell, N K; Medland, S E; Ferrucci, L; Schlessinger, D; Montgomery, G W; Wright, M J; Aulchenko, Y S; Janssens, A C J W; Oostra, B A; Metspalu, A; Abecasis, G R; Deary, I J; Räikkönen, K; Bierut, L J; Martin, N G; Wray, N R; van Duijn, C M; Smoller, J W; Penninx, B W J H; Boomsma, D I

    2011-01-01

    The relationship between major depressive disorder (MDD) and bipolar disorder (BD) remains controversial. Previous research has reported differences and similarities in risk factors for MDD and BD, such as predisposing personality traits. For example, high neuroticism is related to both disorders, whereas openness to experience is specific for BD. This study examined the genetic association between personality and MDD and BD by applying polygenic scores for neuroticism, extraversion, openness to experience, agreeableness and conscientiousness to both disorders. Polygenic scores reflect the weighted sum of multiple single-nucleotide polymorphism alleles associated with the trait for an individual and were based on a meta-analysis of genome-wide association studies for personality traits including 13,835 subjects. Polygenic scores were tested for MDD in the combined Genetic Association Information Network (GAIN-MDD) and MDD2000+ samples (N=8921) and for BD in the combined Systematic Treatment Enhancement Program for Bipolar Disorder and Wellcome Trust Case-Control Consortium samples (N=6329) using logistic regression analyses. At the phenotypic level, personality dimensions were associated with MDD and BD. Polygenic neuroticism scores were significantly positively associated with MDD, whereas polygenic extraversion scores were significantly positively associated with BD. The explained variance of MDD and BD, ∼0.1%, was highly comparable to the variance explained by the polygenic personality scores in the corresponding personality traits themselves (between 0.1 and 0.4%). This indicates that the proportions of variance explained in mood disorders are at the upper limit of what could have been expected. This study suggests shared genetic risk factors for neuroticism and MDD on the one hand and for extraversion and BD on the other. PMID:22833196

  11. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  12. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  13. Role of 5-HTTLPR polymorphism in the development of the inward/outward personality organization: a genetic association study.

    PubMed

    Nardi, Bernardo; Marini, Alessandra; Turchi, Chiara; Arimatea, Emidio; Tagliabracci, Adriano; Bellantuono, Cesario

    2013-01-01

    Reciprocity with primary caregivers affects subjects' adaptive abilities toward the construction of the most useful personal meaning organization (PMO) with respect to their developmental environment. Within cognitive theory the post-rationalist approach has outlined two basic categories of identity construction and of regulation of cognitive and emotional processes: the Outward and the Inward PMO. The presence of different, consistent clinical patterns in Inward and Outward subjects is paralleled by differences in cerebral activation during emotional tasks on fMRI and by different expression of some polymorphisms in serotonin pathways. Since several lines of evidence support a role for the 5-HTTLPR polymorphism in mediating individual susceptibility to environmental emotional stimuli, this study was conducted to investigate its influence in the development of the Inward/Outward PMO. PMO was assessed and the 5-HTTLPR polymorphism investigated in 124 healthy subjects who were subdivided into an Inward (n = 52) and an Outward (n = 72) group. Case-control comparisons of short allele (S) frequencies showed significant differences between Inwards and Outwards (p = 0.036, χ2 test; p = 0.026, exact test). Genotype frequencies were not significantly different although values slightly exceeded p ≤ 0.05 (p = 0.056, χ2 test; p = 0.059, exact test). Analysis of the 5-HTTLPR genotypes according to the recessive inheritance model showed that the S/S genotype increased the likelihood of developing an Outward PMO (p = 0.0178, χ2 test; p = 0.0143, exact test; OR = 3.43, CI (95%) = 1.188-9.925). A logistic regression analysis confirmed the association between short allele and S/S genotypes with the Outward PMO also when gender and age were considered. However none of the differences remained significant after correction for multiple testing, even though using the recessive model they approach significance. Overall our data seem to suggest a putative genetic basis for

  14. The prosocial personality and its facets: genetic and environmental architecture of mother-reported behavior of 7-year-old twins.

    PubMed

    Knafo-Noam, Ariel; Uzefovsky, Florina; Israel, Salomon; Davidov, Maayan; Zahn-Waxler, Caroyln

    2015-01-01

    Children vary markedly in their tendency to behave prosocially, and recent research has implicated both genetic and environmental factors in this variability. Yet, little is known about the extent to which different aspects of prosociality constitute a single dimension (the prosocial personality), and to the extent they are intercorrelated, whether these aspects share their genetic and environmental origins. As part of the Longitudinal Israeli Study of Twins (LIST), mothers of 183 monozygotic (MZ) and dizygotic (DZ) 7-year-old twin pairs (51.6% male) reported regarding their children's prosociality using questionnaires. Five prosociality facets (sharing, social concern, kindness, helping, and empathic concern) were identified. All five facets intercorrelated positively (r > 0.39) suggesting a single-factor structure to the data, consistent with the theoretical idea of a single prosociality trait. Higher MZ than DZ twin correlations indicated genetic contributions to each prosociality facet. A common-factor-common-pathway multivariate model estimated high (69%) heritability for the common prosociality factor, with the non-shared environment and error accounting for the remaining variance. For each facet, unique genetic and environmental contributions were identified as well. The results point to the presence of a broad prosociality phenotype, largely affected by genetics; whereas additional genetic and environmental factors contribute to different aspects of prosociality, such as helping and sharing. PMID:25762952

  15. Role of 5-HTTLPR Polymorphism in the Development of the Inward/Outward Personality Organization: A Genetic Association Study

    PubMed Central

    Nardi, Bernardo; Marini, Alessandra; Turchi, Chiara; Arimatea, Emidio; Tagliabracci, Adriano; Bellantuono, Cesario

    2013-01-01

    Reciprocity with primary caregivers affects subjects' adaptive abilities toward the construction of the most useful personal meaning organization (PMO) with respect to their developmental environment. Within cognitive theory the post-rationalist approach has outlined two basic categories of identity construction and of regulation of cognitive and emotional processes: the Outward and the Inward PMO. The presence of different, consistent clinical patterns in Inward and Outward subjects is paralleled by differences in cerebral activation during emotional tasks on fMRI and by different expression of some polymorphisms in serotonin pathways. Since several lines of evidence support a role for the 5-HTTLPR polymorphism in mediating individual susceptibility to environmental emotional stimuli, this study was conducted to investigate its influence in the development of the Inward/Outward PMO. PMO was assessed and the 5-HTTLPR polymorphism investigated in 124 healthy subjects who were subdivided into an Inward (n = 52) and an Outward (n = 72) group. Case-control comparisons of short allele (S) frequencies showed significant differences between Inwards and Outwards (p = 0.036, χ2 test; p = 0.026, exact test). Genotype frequencies were not significantly different although values slightly exceeded p≤0.05 (p = 0.056, χ2 test; p = 0.059, exact test). Analysis of the 5-HTTLPR genotypes according to the recessive inheritance model showed that the S/S genotype increased the likelihood of developing an Outward PMO (p = 0.0178, χ2 test; p = 0.0143, exact test; OR = 3.43, CI (95%) = 1.188–9.925). A logistic regression analysis confirmed the association between short allele and S/S genotypes with the Outward PMO also when gender and age were considered. However none of the differences remained significant after correction for multiple testing, even though using the recessive model they approach significance. Overall our data seem to suggest

  16. Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire.

    PubMed

    Cuturilo, Goran; Vucinic, Olivera Kontic; Novakovic, Ivana; Ignjatovic, Svetlana; Mijovic, Marija; Sulovic, Nenad; Vukolic, Dusan; Komnenic, Milica; Tadic, Jasmina; Cetkovic, Aleksandar; Belic, Aleksandra; Ljubic, Aleksandar

    2016-02-01

    This is the first study in Serbia and the region of South-East Europe dedicated to clients' perception of outcome and efficiency of prenatal and reproductive genetic counseling. The primary aim of this study was to assess overall value and success of genetic counseling in prenatal and reproductive care with regard to perceived personal control of clients, reflecting also in a part patient comprehension, knowledge retention, and empowerment in decision-making. The standardized Perceived Personal Control questionnaire (PPC) was used for the assessment of 239 female participants. First, we performed a complete validation of the psychometric characteristics of the Serbian-language version of the PPC questionnaire. The validation of the questionnaire permits other researchers from Serbian-speaking regions of South-East Europe to use this standard instrument to assess the effectiveness of prenatal genetic counseling in their communities and analyze advantages and disadvantages of their counseling models. We also measured social and demographic characteristics of participants. Further, we analyzed effects of our team-based prenatal and reproductive genetic counseling model through (a) calculation of PPC scores at three different stages (before initial, after initial, and before second counseling session), and (b) by assessing participants' responses by indication for referral (advanced maternal age, abnormal biochemical screening, family history of hereditary disorders, maternal exposure to drugs, exposure to radiation, exposure to infective agents, infertility or recurrent abortions, and miscellaneous). The results indicate that participants' knowledge after initial counseling increased significantly and after that remained stable and sustainable. A satisfactory level of confidence among participants had been achieved, in that many felt an increased sense of control over their situation and emotional response to it. Indirectly, these results indicate the success of a

  17. Personality in Relation to Genetic Liability for Schizophrenia and Bipolar Disorder: Differential Associations with the COMT Val108/158Met Polymorphism

    PubMed Central

    Silberschmidt, Amy L.; Sponheim, Scott R.

    2009-01-01

    Schizophrenia and bipolar disorder may share aspects of genetic etiology. Evidence supports the Val108/158Met polymorphism of the Catechol-o-Methyltransferase (COMT) gene as potentially contributing to the etiology of both disorders. To determine whether the COMT gene is associated with personality traits related to genetic risk for either schizophrenia or bipolar disorder, we examined dimensions of personality psychopathology in biological relatives of individuals with the disorders. Specifically, we contrasted personality characteristics of first-degree relatives of people with schizophrenia, first-degree relatives of people with bipolar-I disorder, and nonpsychiatric control participants using scores from the Dimensional Assessment of Personality Pathology – Brief Questionnaire (DAPP-BQ). We also characterized the COMT Val108/158Met polymorphism of subjects. Compared to controls, relatives of schizophrenia patients scored lower on stimulus seeking and higher on restrictive expression and social avoidance. Compared to relatives of bipolar patients, relatives of schizophrenia patients had lower scores on narcissism, rejectionality (i.e., rejection of ideas of others), stimulus seeking, passive-aggressive oppositionality, and self-harm. The subset of relatives of schizophrenia patients who were COMT val homozygotes exhibited lower scores on narcissism, rejectionality, and stimulus seeking than met homozygote relatives of schizophrenia patients and control participants. Although relatives of bipolar patients showed scale elevations consistent with emotional dysregulation, the scores failed to be associated with the Val108/158Met polymorphism. Abnormally low narcissism and rejectionality in val homozygote relatives of schizophrenia patients suggests that the val allele of the COMT polymorphism may be associated with an underdeveloped self-concept phenomenologically similar to made volition and passivity experiences comprising first-rank symptoms of schizophrenia

  18. [ANALYSIS OF F.M.DOSTOEVSKIĬ'S HEALTH, PERSONALITY, AND WORKS FROM THE GENETIC STANDPOINT. PART 1].

    PubMed

    Kobylianskiĭ, V I

    2015-01-01

    The data on Dostoevsky's epilepsy are ambiguous and often contradictory. It prompted consideration of certain genetic aspects of the writer's pedigree for the clarification of this issue. The phenomenon of Dostoevsky's genius was for the first time contemplated from the standpoint of the contribution of genetic factors to his creative work. It was shown that Dostoevsky's ancestry can not be a source of hereditary predisposition to epilepsy. The available data question the genuine nature of his disease. Characteristic of Dostoevsky's ancestry is the wide occurrence of "creativeness" genes. Their cumulation together with a number of other factors verified in the writer can account for the phenomenon of his genius. PMID:26117915

  19. Personal exposure to PM2.5, genetic variants and DNA damage: a multi-center population-based study in Chinese.

    PubMed

    Chu, Minjie; Sun, Chongqi; Chen, Weihong; Jin, Guangfu; Gong, Jianhang; Zhu, Meng; Yuan, Jing; Dai, Juncheng; Wang, Meilin; Pan, Yun; Song, Yuanchao; Ding, Xiaojie; Guo, Xuejiang; Du, Mulong; Xia, Yankai; Kan, Haidong; Zhang, Zhengdong; Hu, Zhibin; Wu, Tangchun; Shen, Hongbing

    2015-06-15

    Exposure to particulate matter (e.g., PM2.5) may result in DNA damage, a major culprit in mutagenesis and environmental toxicity. DNA damage levels may vary among individuals simultaneously exposed to PM2.5, however, the genetic determinants are still unclear. To explore whether PM2.5 exposure and genetic variants contribute to the alteration in DNA damage, we recruited 328 subjects from three independent cohorts (119 from Zhuhai, 123 from Wuhan and 86 from Tianjin) in southern, central and northern China with different PM2.5 exposure levels. Personal 24-h PM2.5 exposure levels and DNA damage levels of peripheral blood lymphocytes were evaluated. Genotyping were performed using Illumina Human Exome BeadChip with 241,305 single nucleotide variants (SNVs). The DNA damage levels are consistent with the PM2.5 exposure levels of each cohort. A total of 35 SNVs were consistently associated with DNA damage levels among the three cohorts with pooled P values less than 1.00×10(-3) after adjustment for age, gender, smoking status and PM2.5 exposure levels, of which, 18 SNVs together with gender and PM2.5 exposure levels were independent factors contributing to DNA damage. Gene-based test revealed 3 genes significantly associated with DNA damage levels (P=5.11×10(-3) for POLH, P=2.88×10(-3) for RIT2 and P=2.29×10(-2) for CNTN4). Gene ontology (GO) analyses indicated that the identified variants were significantly enriched in DNA damage response pathway. Our findings highlight the importance of genetic variation as well as personal PM2.5 exposure in modulating individual DNA damage levels. PMID:25889363

  20. Contribution of Genetic Background and Clinical Risk Factors to Low-Trauma Fractures in Human Immunodeficiency Virus (HIV)-Positive Persons: The Swiss HIV Cohort Study

    PubMed Central

    Junier, Thomas; Rotger, Margalida; Biver, Emmanuel; Ledergerber, Bruno; Barceló, Catalina; Bartha, Istvan; Kovari, Helen; Schmid, Patrick; Fux, Christoph; Bernasconi, Enos; Brun del Re, Claudia; Weber, Rainer; Fellay, Jacques; Tarr, Philip E.

    2016-01-01

    Background. The impact of human genetic background on low-trauma fracture (LTF) risk has not been evaluated in the context of human immunodeficiency virus (HIV) and clinical LTF risk factors. Methods. In the general population, 6 common single-nucleotide polymorphisms (SNPs) associate with LTF through genome-wide association study. Using genome-wide SNP arrays and imputation, we genotyped these SNPs in HIV-positive, white Swiss HIV Cohort Study participants. We included 103 individuals with a first, physician-validated LTF and 206 controls matched on gender, whose duration of observation and whose antiretroviral therapy start dates were similar using incidence density sampling. Analyses of nongenetic LTF risk factors were based on 158 cases and 788 controls. Results. A genetic risk score built from the 6 LTF-associated SNPs did not associate with LTF risk, in both models including and not including parental hip fracture history. The contribution of clinical LTF risk factors was limited in our dataset. Conclusions. Genetic LTF markers with a modest effect size in the general population do not improve fracture prediction in persons with HIV, in whom clinical LTF risk factors are prevalent in both cases and controls. PMID:27419173

  1. Source apportionment of human personal exposure to volatile organic compounds in homes, offices and outdoors by chemical mass balance and genetic algorithm receptor models.

    PubMed

    Gokhale, Sharad; Kohajda, Tibor; Schlink, Uwe

    2008-12-15

    A number of past studies have shown the prevalence of a considerable amount of volatile organic compounds (VOCs) in workplace, home and outdoor microenvironments. The quantification of an individual's personal exposure to VOCs in each of these microenvironments is an essential task to recognize the health risks. In this paper, such a study of source apportionment of the human exposure to VOCs in homes, offices, and outdoors has been presented. Air samples, analysed for 25 organic compounds and sampled during one week in homes, offices, outdoors and close to persons, at seven locations in the city of Leipzig, have been utilized to recognize the concentration pattern of VOCs using the chemical mass balance (CMB) receptor model. In result, the largest contribution of VOCs to the personal exposure is from homes in the range of 42 to 73%, followed by outdoors, 18 to 34%, and the offices, 2 to 38% with the corresponding concentration ranges of 35 to 80 microg m(- 3), 10 to 45 microg m(- 3) and 1 to 30 microg m(- 3) respectively. The species such as benzene, dodecane, decane, methyl-cyclopentane, triethyltoluene and trichloroethylene dominate outdoors; methyl-cyclohexane, triethyltoluene, nonane, octane, tetraethyltoluene, undecane are highest in the offices; while, from the terpenoid group like 3-carane, limonene, a-pinene, b-pinene and the aromatics toluene and styrene most influence the homes. A genetic algorithm (GA) model has also been applied to carry out the source apportionment. Its results are comparable with that of CMB. PMID:18822447

  2. Nondirectiveness in prenatal genetics: patients read between the lines.

    PubMed

    Anderson, G

    1999-03-01

    For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient's decision. It is assumed that, if genetic services are delivered in a nondirective manner, patients will not be affected by the provider's personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients' moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests. PMID:10358528

  3. How Is Genetic Testing Done?

    MedlinePlus

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed ... is called informed consent . For more information about genetic testing procedures: The Genetic Science Learning Center at ...

  4. Genetic-based biomarkers and next-generation sequencing: the future of personalized care in colorectal cancer

    PubMed Central

    Kim, Redecca Y; Myllykangas, Samuel; Ji, Hanlee

    2013-01-01

    The past 5 years have witnessed extraordinary advances in the field of DNA sequencing technology. What once took years to accomplish with Sanger sequencing can now be accomplished in a matter of days with next-generation sequencing (NGS) technology. This has allowed researchers to sequence individual genomes and match combinations of mutations with specific diseases. As cancer is inherently a disease of the genome, it is not surprising to see NGS technology already being applied to cancer research with promises of greater understanding of carcinogenesis. While the task of deciphering the cancer genomic code remains ongoing, we are already beginning to see the application of genetic-based testing in the area of colorectal cancer. In this article we will provide an overview of current colorectal cancer genetic-based biomarkers, namely mutations and other genetic alterations in cancer genome DNA, discuss recent advances in NGS technology and speculate on future directions for the application of NGS technology to colorectal cancer diagnosis and treatment. PMID:23662107

  5. Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma.

    PubMed

    Zhang, Yawei; Hughes, Kathryn J; Zahm, Shelia Hoar; Zhang, Yaqun; Holford, Theodore R; Dai, Li; Bai, Yana; Han, Xuesong; Qin, Qin; Lan, Qing; Rothman, Nathaniel; Zhu, Yong; Leaderer, Brian; Zheng, Tongzhang

    2009-11-15

    From 1996 to 2000, the authors conducted a population-based case-control study among Connecticut women to test the hypothesis that genetic variation in xenobiotic metabolic pathway genes modifies the relation between hair dye use and risk of non-Hodgkin lymphoma. No effect modifications were found for women who started using hair dyes in 1980 or afterward. For women who started using hair dye before 1980 as compared with never users, a statistically significantly increased risk of non-Hodgkin lymphoma was found for carriers of CYP2C9 Ex3-52C>T TT/CT genotypes (odds ratio (OR) = 2.9, 95% confidence interval (CI): 1.4, 6.1), CYP2E1 -332T>A AT/AA genotypes (OR = 2.0, 95% CI: 1.2, 3.4), a homozygous or heterozygous 3-base-pair deletion in intron 6 of GSTM3 (OR = 2.3, 95% CI: 1.3, 4.1), GSTP1 Ex5-24A>G AA genotypes (OR = 1.8, 95% CI: 1.1, 2.9), or NAT2 genotypes conferring intermediate/rapid acetylator status (OR = 1.6, 95% CI: 1.0, 2.7). The observed associations were mainly seen for follicular lymphoma. In contrast, no significantly increased risk was observed for starting hair dye use before 1980 (relative to never use) among women who were homozygous wild-type for the CYP2C9, CYP2E1, or GSTM3 polymorphisms, women carrying 1 or 2 copies of the variant GSTP1 allele, or women who were slow NAT2 acetylators. A possible role of genetic variation in xenobiotic metabolism in the carcinogenicity of hair dye use needs to be confirmed in larger studies. PMID:19822571

  6. Asexual metazoans undergo senescence.

    PubMed

    Martínez, D E; Levinton, J S

    1992-10-15

    August Weismann popularized the notion that metazoans have a potentially immortal germ line separated from a mortal soma, and evolutionary biologists regard senescence as an evolved characteristic of the soma. Many have claimed that metazoans that do not sequester their germ line have no clear distinction between germ line and soma, and consequently they should lack senescence. Here we present experimental evidence that senescence occurs in the asexually reproducing marine oligochaete Paranais litoralis. We also analyze data reported in Sonneborn's classical study and show that the rhabdocoel Stenostomum incaudatum undergoes senescence. We argue that the stability of commitment to somatic function and the fact that asexual metazoans form their germ cells from undifferentiated stem cells are sufficient to allow for senescence of the asexual metazoan's soma. Thus the evolution of somatic differentiation, and not germ-line sequestration, would be the necessary condition for the evolution of senescence. PMID:11607334

  7. Population Pharmacokinetics of Busulfan in Pediatric and Young Adult Patients Undergoing Hematopoietic Cell Transplant: A Model-Based Dosing Algorithm for Personalized Therapy and Implementation into Routine Clinical Use

    PubMed Central

    Long-Boyle, Janel; Savic, Rada; Yan, Shirley; Bartelink, Imke; Musick, Lisa; French, Deborah; Law, Jason; Horn, Biljana; Cowan, Morton J.; Dvorak, Christopher C.

    2014-01-01

    Background Population pharmacokinetic (PK) studies of busulfan in children have shown that individualized model-based algorithms provide improved targeted busulfan therapy when compared to conventional dosing. The adoption of population PK models into routine clinical practice has been hampered by the tendency of pharmacologists to develop complex models too impractical for clinicians to use. The authors aimed to develop a population PK model for busulfan in children that can reliably achieve therapeutic exposure (concentration-at-steady-state, Css) and implement a simple, model-based tool for the initial dosing of busulfan in children undergoing HCT. Patients and Methods Model development was conducted using retrospective data available in 90 pediatric and young adult patients who had undergone HCT with busulfan conditioning. Busulfan drug levels and potential covariates influencing drug exposure were analyzed using the non-linear mixed effects modeling software, NONMEM. The final population PK model was implemented into a clinician-friendly, Microsoft Excel-based tool and used to recommend initial doses of busulfan in a group of 21 pediatric patients prospectively dosed based on the population PK model. Results Modeling of busulfan time-concentration data indicates busulfan CL displays non-linearity in children, decreasing up to approximately 20% between the concentrations of 250–2000 ng/mL. Important patient-specific covariates found to significantly impact busulfan CL were actual body weight and age. The percentage of individuals achieving a therapeutic Css was significantly higher in subjects receiving initial doses based on the population PK model (81%) versus historical controls dosed on conventional guidelines (52%) (p = 0.02). Conclusion When compared to the conventional dosing guidelines, the model-based algorithm demonstrates significant improvement for providing targeted busulfan therapy in children and young adults. PMID:25162216

  8. Genetic susceptibility to breast cancer.

    PubMed

    Bradbury, Angela R; Olopade, Olufunmilayo I

    2007-09-01

    Deleterious mutations in two breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2 have been identified in breast and ovarian cancer families. Women with a BRCA1 or BRCA2 mutation are candidates for additional risk reduction measures such as intensive screening, prophylactic surgery or chemoprevention. Additional susceptibility genes have been identified, including PTEN, ATM, TP53, CHEK2, CASP8, PBRL and BRIP1. Yet, many women with a personal or family history suggestive of a hereditary susceptibility to breast cancer undergo genetic testing and no significant genetic alteration is found. Thus, there are other susceptibility genes that have not been identified, and it is likely that the remaining familial contribution to breast cancer will be explained by the presence of multiple low penetrance alleles that coexist to confer high penetrance risks (a polygenic model). The American Cancer Society has identified cancer prevention as a key component of cancer management and there is interest in developing individualized cancer prevention focused on identifying high risk individuals who are most likely to benefit from more aggressive risk reduction measures. Breast cancer risk assessment and genetic counseling are currently provided by genetic counselors, oncology nurse specialist, geneticists, medical and surgical oncologists, gynecologists and other health care professionals, often working within a multidisciplinary clinical setting. Current methods for risk assessment and predictive genetic testing have limitations and improvements in molecular testing and risk assessment tools is necessary to maximize individual breast cancer risk assessment and to fulfill the promise of cancer prevention. PMID:17508290

  9. Balancing personalized medicine and personalized care.

    PubMed

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-03-01

    The current description of personalized medicine by the National Institutes of Health is "the science of individualized prevention and therapy." Although physicians are beginning to see the promise of genetic medicine coming to fruition, the rapid pace of sequencing technology, informatics, and computer science predict a revolution in the ability to care for patients in the near future. The enthusiasm expressed by researchers is well founded, but the expectations voiced by the public do not center on advancing technology. Rather, patients are asking for personalized care: a holistic approach that considers physical, mental, and spiritual well-being. This perspective considers psychological, religious, and ethical challenges that may arise as the precision of preventive medicine improves. Psychological studies already highlight the barriers to single gene testing and suggest significant barriers to the predictive testing envisioned by personalized medicine. Certain religious groups will likely mount opposition if they believe personalized medicine encourages embryo selection. If the technology prompts cost-containment discussions, those concerned about the sanctity of life may raise ethical objections. Consequently, the availability of new scientific developments does not guarantee advances in treatment because patients may prove unwilling to receive and act on personalized genetic information. This perspective highlights current efforts to incorporate personalized medicine and personalized care into the medical curriculum, genetic counseling, and other aspects of clinical practice. Because these efforts are generally independent, the authors offer recommendations for physicians and educators so that personalized medicine can be implemented in a manner that meets patient expectations for personalized care. PMID:23348082

  10. Risk Information Exposure and Direct to Consumer Genetic Testing for BRCA Mutations among Women with a Personal or Family History of Breast or Ovarian Cancer

    PubMed Central

    Gray, Stacy W.; O’Grady, Cristin; Karp, Lauren; Smith, Daniel; Schwartz, J. Sanford; Hornik, Robert C.; Armstrong, Katrina

    2009-01-01

    Background Direct to consumer (DTC) BRCA testing may expand access to genetic testing and enhance cancer prevention efforts. However, it is not know if current DTC websites provide adequate risk information for informed medical decision-making. Methods 284 women with a personal or family history of breast/ovarian cancer were randomly assigned to view a “mock” DTC commercial website (control condition: CC, n=93) or the same “mock” website that included information on the potential risks of obtaining genetic testing online. Risk information was framed two ways: risk information attributed to expert sources (ES, n=98) and unattributed risk information (URI, n=93). Participants completed an online survey. Endpoints were intentions to get BRCA testing, testing site preference and beliefs about DTC BRCA testing. Results Sample characteristics: mean age 39 (range 18–70), 82% white, mean education 3 yrs. college. Women exposed to risk information had lower intentions to get BRCA testing than women in the CC (adjusted odds ratio (OR) 0.48; 95% confidence interval (CI) 0.26–0.87, p=0.016), less positive beliefs about online BRCA testing (adjusted OR 0.48; 95% 0.27–0.86, p=0.014). Women in the ES condition were more likely to prefer clinic based testing than women in the CC (adjusted OR 2.05; 95% CI 1.07–3.90, p=0.030). Conclusion Exposing women to information on the potential risks of online BRCA testing altered their intentions, beliefs and preferences for BRCA testing. Policy makers may want to consider content and framing of risk information on DTC websites as they formulate regulation for this rapidly growing industry. PMID:19318436

  11. Posterior Cingulate Glucose Metabolism, Hippocampal Glucose Metabolism, and Hippocampal Volume in Cognitively Normal, Late-Middle-Aged Persons at 3 Levels of Genetic Risk for Alzheimer Disease

    PubMed Central

    Protas, Hillary D.; Chen, Kewei; Langbaum, Jessica B. S.; Fleisher, Adam S.; Alexander, Gene E.; Lee, Wendy; Bandy, Daniel; de Leon, Mony J.; Mosconi, Lisa; Buckley, Shannon; Truran-Sacrey, Diana; Schuff, Norbert; Weiner, Michael W.; Caselli, Richard J.; Reiman, Eric M.

    2013-01-01

    metabolism in cognitively normal persons at increased genetic risk for Alzheimer disease. PMID:23599929

  12. Timing of Referral for Genetic Counseling and Genetic Testing in Patients with Ovarian, Fallopian Tube or Primary Peritoneal Carcinoma

    PubMed Central

    Novetsky, Akiva P.; Smith, Kylie; Babb, Sheri A.; Jeffe, Donna B.; Hagemann, Andrea R.; Thaker, Premal H.; Powell, Matthew A.; Mutch, David G.; Massad, L. Stewart; Zighelboim, Israel

    2013-01-01

    Objective To assess patients' preferences of the timing of referral for genetic counseling and testing in relation to the diagnosis, treatment and recurrence of ovarian, tubal, or primary peritoneal cancers. Methods/Materials Ninety-two patients who underwent counseling and testing by one certified genetic counselor were identified. Introductory letter, consent form and questionnaire were mailed to gather information regarding factors influencing the decision to undergo genetic counseling and testing and opinions regarding optimal timing. Medical records were reviewed for demographic and clinical data. Results Of 47 consenting women, 45 underwent testing. Eight (18%) were found to have a genetic mutation. Women lacked consensus about the optimal time for referral for and to undergo genetic testing, though women with stage I disease preferred testing after completion of chemotherapy. Most women were comfortable receiving the results by phone, but 1/3 preferred an office visit. Conclusions Patients' views regarding the best time to be referred for and undergo counseling and testing varied greatly. Due to the high mortality of this disease, clinicians should discuss referral early and personalize the timing to each patient. The subset of patients who prefer results disclosure during an office visit should be identified at the time of their initial counseling. PMID:23748176

  13. You want to do what? My mother's choice to have direct-to-consumer genetic testing.

    PubMed

    Varga, Elizabeth A

    2012-06-01

    As a genetic counselor, I had mixed opinions when my mother told me of her intent to undergo genomewide, SNP-based direct-to-consumer (DTC) genetic testing. I cautioned her that results could be misleading, could increase anxiety and were often of limited clinical validity or utility. I warned of the possibility of learning unintended health information and expressed concerns about how the information might be used by a private company. I told her about the variability in results among companies. Yet, she persisted in her desire, reminding me that she was an informed consumer. After reviewing her goals and understanding of the information she might receive, she elected to proceed. Despite my insistence that I would not be her personal genetic counselor, when the results came back, I found myself immersed in her genetic data. In this manuscript, I will examine how this personal experience challenged my perceptions of DTC testing. PMID:22491969

  14. Perspective: Balancing Personalized Medicine and Personalized Care

    PubMed Central

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-01-01

    The current description of personalized medicine by the National Institutes of Health is “the science of individualized prevention and therapy.” Although physicians are just beginning to see the promise of genetic medicine coming to fruition, the rapid pace of sequencing technology, informatics, and computer science predict a true revolution in the ability to care for patients in the near future. The enthusiasm expressed by researchers is well founded, but the expectations voiced by the public do not center on advancing technology. Rather, patients are asking for personalized care: a holistic approach that considers an individual’s physical, mental, and spiritual well-being. This perspective considers psychological, religious, and ethical challenges that may arise as the precision of preventive medicine improves. Psychological studies already highlight the barriers to single gene testing and suggest significant barriers to the predictive testing envisioned by personalized medicine. Certain religious groups will likely mount opposition if they believe personalized medicine encourages embryo selection. If the technology prompts cost-containment discussions, those concerned about the sanctity of life may raise ethical objections. Consequently, the availability of new scientific developments does not guarantee advances in treatment because patients may prove unwilling to receive and act upon personalized genetic information. This perspective highlights current efforts to incorporate personalized medicine and personalized care into the medical curriculum, genetic counseling, and other aspects of clinical practice. As these efforts are generally independent, the authors offer recommendations for physicians and educators so that personalized medicine can be implemented in a manner that meets patient expectations for personalized care. PMID:23348082

  15. Prevalence and detection of psychosocial problems in cancer genetic counseling.

    PubMed

    Eijzenga, W; Bleiker, E M A; Hahn, D E E; Van der Kolk, L E; Sidharta, G N; Aaronson, N K

    2015-12-01

    Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to identify possible demographic and clinical variables associated significantly with them. Consenting individuals scheduled to undergo cancer genetic counseling completed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, the Hospital Anxiety and Depression Scale (HADS) and the Distress Thermometer (DT) prior to or immediately following their counseling session. More than half of the 137 participants reported problems on three or more domains of the PAHC, most often in the domains 'living with cancer' (84%), 'family issues' (46%), 'hereditary predisposition' (45%), and 'child-related issues' (42%). Correlations between the PAHC, the HADS and the DT were low. Previous contact with a psychosocial worker, and having a personal history of cancer were associated significantly with HADS scores, but explained little variance (9%). No background variables were associated significantly with the DT. Previous contact with a psychosocial worker, and having children were significantly associated with several PAHC domains, again explaining only a small percentage of the variance (2-14%). The majority of counselees experience specific cancer genetic counseling-related psychosocial problems. Only a few background variables are associated significantly with distress or psychosocial problems. Thus we recommend using the PAHC or a similar problem-oriented questionnaire routinely in cancer genetic counseling to identify individuals with such problems. PMID:25968807

  16. Personality Disorders

    MedlinePlus

    ... this page You are here Home » Personality Disorder Personality Disorder What is “Personality?” Personality refers to a distinctive set of traits, ... family, friends, and co-workers. What is a Personality Disorder? Those who struggle with a personality disorder ...

  17. Complex Chronic Conditions Among Children Undergoing Cardiac Surgery.

    PubMed

    Chan, Titus; Di Gennaro, Jane; Wechsler, Stephanie Burns; Bratton, Susan L

    2016-08-01

    Children with complex chronic conditions (CCCs) require a disproportionate amount of inpatient resources and are at increased risk of mortality during hospital admissions. This study examines the impact of non-cardiac, comorbid complex chronic conditions on outcomes in children undergoing congenital heart surgery. All admissions associated with a congenital cardiac surgical procedure in the Kids' Inpatient Database from 1997 to 2012 were examined. Children were classified by the number as well as type (genetic vs. non-genetic) of CCC. Baseline demographics as well as proportion of total inpatient days and total hospitalization charges was assessed. Multivariate regression models examining occurrence of a complication, mortality, prolonged length of stay and high hospitalization charges were constructed. In multivariate models, an increasing number of CCC was associated with increased risk of mortality and complications (mortality: 1 CCC: odds ratio (OR) = 1.17, 95 % CI = 1.03-1.33); ≥2 CCC: OR = 1.54, 95 % CI = 1.26-1.87). Additionally, the presence of a genetic CCC was protective against mortality (OR = 0.71, 95 % CI = 0.56-0.89) while non-genetic CCCs were associated with mortality (OR = 1.62, 95 % CI = 1.41-1.88) and high resource utilization. Over time, the proportion of genetic CCC remained stable while non-genetic CCC increased in prevalence. Complex chronic conditions have a varying association with mortality, morbidity and resource utilization in children undergoing congenital heart surgery. While genetic CCCs were not associated with poor outcomes, non-genetic CCCs were risk factors for morbidity and mortality. These findings suggest that pre-surgical counseling and surgical planning should account for the type of non-cardiac comorbid conditions. PMID:27033243

  18. Human genetics

    SciTech Connect

    Carlson, E.A.

    1984-01-01

    This text provides full and balanced coverage of the concepts requisite for a thorough understanding of human genetics. Applications to both the individual and society are integrated throughout the lively and personal narrative, and the essential principles of heredity are clearly presented to prepare students for informed participation in public controversies. High-interest, controversial topics, including recombinant DNA technology, oncogenes, embryo transfer, environmental mutagens and carcinogens, IQ testing, and eugenics encourage understanding of important social issues.

  19. Using Workflow Modeling to Identify Areas to Improve Genetic Test Processes in the University of Maryland Translational Pharmacogenomics Project

    PubMed Central

    Cutting, Elizabeth M.; Overby, Casey L.; Banchero, Meghan; Pollin, Toni; Kelemen, Mark; Shuldiner, Alan R.; Beitelshees, Amber L.

    2015-01-01

    Delivering genetic test results to clinicians is a complex process. It involves many actors and multiple steps, requiring all of these to work together in order to create an optimal course of treatment for the patient. We used information gained from focus groups in order to illustrate the current process of delivering genetic test results to clinicians. We propose a business process model and notation (BPMN) representation of this process for a Translational Pharmacogenomics Project being implemented at the University of Maryland Medical Center, so that personalized medicine program implementers can identify areas to improve genetic testing processes. We found that the current process could be improved to reduce input errors, better inform and notify clinicians about the implications of certain genetic tests, and make results more easily understood. We demonstrate our use of BPMN to improve this important clinical process for CYP2C19 genetic testing in patients undergoing invasive treatment of coronary heart disease. PMID:26958179

  20. DSDs: genetics, underlying pathologies and psychosexual differentiation

    PubMed Central

    Arboleda, Valerie A.; Sandberg, David E.; Vilain, Eric

    2015-01-01

    Mammalian sex determination is the unique process whereby a single organ, the bipotential gonad, undergoes a developmental switch that promotes its differentiation into either a testis or an ovary. Disruptions of this complex genetic process during human development can manifest as disorders of sex development (DSDs). Sex development can be divided into two distinct processes: sex determination, in which the bipotential gonads form either testes or ovaries, and sex differentiation, in which the fully formed testes or ovaries secrete local and hormonal factors to drive differentiation of internal and external genitals, as well as extragonadal tissues such as the brain. DSDs can arise from a number of genetic lesions, which manifest as a spectrum of gonadal (gonadal dysgenesis to ovotestis) and genital (mild hypospadias or clitoromegaly to ambiguous genitalia) phenotypes. The physical attributes and medical implications associated with DSDs confront families of affected newborns with decisions, such as gender of rearing or genital surgery, and additional concerns, such as uncertainty over the child’s psychosexual development and personal wishes later in life. In this Review, we discuss the underlying genetics of human sex determination and focus on emerging data, genetic classification of DSDs and other considerations that surround gender development and identity in individuals with DSDs. PMID:25091731

  1. Immunoinformatics in personalized medicine.

    PubMed

    Gulukota, Kamalakar

    2003-01-01

    Diagnosis of human disease has been undergoing steady improvement over the past few centuries. Many ailments that were once considered a single entity have been classified into finer categories on the basis of response to therapy (e.g. type I and type II diabetes), inheritance (e.g. familial and non-familial polyposis coli), histology (e.g. small cell and adenocarcinoma of lung) and most recently transcriptional profiling (e.g. leukaemia, lymphoma). The next dimension in this finer categorization appears to be the typing of the patient rather than the disease i.e. disease X in person of type Y. The problem of personalized medicine is to devise tests which predict the type of individual, especially where the type is correlated with response to therapy. Immunology has been at the forefront of personalized medicine for quite a while, even though the term is not often used in this connection. Blood grouping and cross-matching (for blood transfusion), and anaphylaxis test (for penicillin) are just two examples. In this paper I will argue that immunological tests have an important place in the future of personalized medicine. I will describe methods we developed for personalizing vaccines based on MHC allele frequencies in human populations and methods for predicting peptide binding to class I MHC molecules. In conclusion, I will argue that immunological tests, and consequently immunoinformatics, will play a big role in making personalized medicine a reality. PMID:14712931

  2. BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation.

    PubMed

    Sussner, Katarina M; Edwards, Tiffany; Villagra, Cristina; Rodriguez, M Carina; Thompson, Hayley S; Jandorf, Lina; Valdimarsdottir, Heiddis B

    2015-02-01

    Despite the life-saving information that genetic counseling can provide for women at hereditary breast and/or ovarian cancer (HBOC) risk, Latinas disproportionately underuse such services. Understanding Latinas' beliefs and attitudes about BRCA genetic counseling may be the key to better health promotion within this underserved, at-risk group. We conducted 12 focus groups (N = 54) with at-risk Latina women in New York City, followed by 30 in-depth interviews among a subset of the focus group women. Both were professionally transcribed, translated where applicable and data analysis was completed by two coders trained in qualitative methods. Results revealed personal and community knowledge about BRCA genetic counseling was relatively low, although women felt largely positive about counseling. The main motivator to undergo genetic counseling was concerns about learning family members' cancer status, while the main barrier was competing demands. Generational differences were apparent, with younger women (approximately <55 years) reporting that they were more interested in educating themselves about counseling and other ways to prevent cancer. Younger women were also less likely to ascribe to traditionally Latino-centered cultural beliefs which could serve as barriers (e.g. machismo, fatalismo, destino) to undergoing genetic counseling. Participants were largely enthusiastic about educational efforts to increase awareness of genetic counseling among Latinos. Revealing the beliefs and attitudes of underserved Latinas may help shape culturally appropriate educational materials and promotion programs to increase BRCA genetic counseling uptake within this underrepresented community. PMID:25120034

  3. BRCA Genetic Counseling Among At-Risk Latinas in New York City: New Beliefs Shape New Generation

    PubMed Central

    Edwards, Tiffany; Villagra, Cristina; Rodriguez, M. Carina; Thompson, Hayley S.; Jandorf, Lina; Valdimarsdottir, Heiddis B.

    2015-01-01

    Despite the life-saving information that genetic counseling can provide for women at hereditary breast and/or ovarian cancer (HBOC) risk, Latinas disproportionately underuse such services. Understanding Latinas’ beliefs and attitudes about BRCA genetic counseling may be the key to better health promotion within this underserved, at-risk group. We conducted 12 focus groups (N=54) with at-risk Latina women in New York City, followed by 30 in-depth interviews among a subset of the focus group women. Both were professionally transcribed, translated where applicable and data analysis was completed by two coders trained in qualitative methods. Results revealed personal and community knowledge about BRCA genetic counseling was relatively low, although women felt largely positive about counseling. The main motivator to undergo genetic counseling was concerns about learning family members’ cancer status, while the main barrier was competing demands. Generational differences were apparent, with younger women (approximately <55 years) reporting that they were more interested in educating themselves about counseling and other ways to prevent cancer. Younger women were also less likely to ascribe to traditionally Latino-centered cultural beliefs which could serve as barriers (e.g. machismo, fatalismo, destino) to undergoing genetic counseling. Participants were largely enthusiastic about educational efforts to increase awareness of genetic counseling among Latinos. Revealing the beliefs and attitudes of underserved Latinas may help shape culturally appropriate educational materials and promotion programs to increase BRCA genetic counseling uptake within this under-represented community. PMID:25120034

  4. Personalized medicine and ethics.

    PubMed

    Josko, Deborah

    2014-01-01

    An entire series could be dedicated to the topic of ethics in personalized medicine. Due to the advancements in NGS and genetic testing, personalized medicine is no longer something that will occur in the future, the reality is upon us now. Sequencing an individual's genome can have a substantial impact on the patient's treatment and overall quality of life. However, this can open "Pandora's box" especially if an individual does not want to know the information obtained. In addition, will insurance companies require genetic testing in order to pay for a targeted treatment? If the patient refuses to have the genetic testing, will they have to pay for their treatment out of pocket? In the human interest story presented, the researcher and his team discovered over activity of the FTL3 protein through RNA sequencing which resulted in rapid proliferation of his leukemic cells. He identified a drug marketed for advanced kidney cancer which was a FTL3 inhibitor. However, his insurance company refused to pay for the drug because it was not a known treatment for his condition of ALL. He incurred numerous out of pocket expenses in order to go into remission. Was it unethical for the insurance company to not pay for a treatment that ultimately worked but was not marketed or FDA cleared for his type of leukemia? There are so many questions and concerns when personalized medicine is implemented. Only time will tell the effects next generation sequencing and its role in personalized medicine will have in the future. PMID:25219077

  5. Genetics in Relation to Biology.

    ERIC Educational Resources Information Center

    Stewart, J. Bird

    1987-01-01

    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  6. Genetically reduced FAAH activity may be a risk for the development of anxiety and depression in persons with repetitive childhood trauma.

    PubMed

    Lazary, Judit; Eszlari, Nora; Juhasz, Gabriella; Bagdy, Gyorgy

    2016-06-01

    Fatty acid amide hydrolase (FAAH) inhibitors are addressed for promising anxiolytics, but human studies on genetically reduced FAAH activity, stress and affective phenotypes are scarce. We investigated the effect of a functional polymorphism of FAAH (FAAH C385A or rs324420; low FAAH activity and high anandamide concentration are associated with the A allele) together with childhood adversity on the anxious and depressive phenotypes in 858 subjects from the general population. Phenotypes were measured by the Zung Self-Rating Depression Scale (ZSDS), the depression and anxiety subscales of the Brief Symptom Inventory (BSI-DEP, BSI-ANX) and the State-Trait Anxiety scales (STAI-S, STAI-T). Childhood Adversity Questionnaire (CHA) was used to assess early life traumas. Frequency of the A allele was greater among subjects with high ZSDS scores compared to the CC genotype. Furthermore, FAAH C385A and the CHA have shown a robust gene-environment interaction, namely, significantly higher anxiety and depression scores were exhibited by individuals carrying the A allele if they had high CHA scores compared to CC carriers. These data provided preliminary evidence that genetically reduced FAAH activity and repetitive stress in the childhood are associated with increased vulnerability for anxiety and depression in later life. Our results together with earlier experimental data suggest that permanently elevated anandamide level together with early life stress may cause a lifelong damage on stress response probably via the downregulation of CB1R during the neurodevelopment in the brain. It may also point to pharmacogenomic consequences, namely ineffectiveness or adverse effects of FAAH inhibitors in this subpopulation. PMID:27005594

  7. How Can Consumers Be Sure a Genetic Test Is Valid and Useful?

    MedlinePlus

    ... and useful? How can consumers be sure a genetic test is valid and useful? Before undergoing genetic ... For more information about determining the quality of genetic tests: The Centers for Disease Control and Prevention ( ...

  8. Personality disorders

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000939.htm Personality disorders To use the sharing features on this page, please enable JavaScript. Personality disorders are a group of mental conditions in ...

  9. Personality Disorders

    MedlinePlus

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...

  10. Personality Disorders

    MedlinePlus

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors that ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and problems. ...

  11. Evolutionary genomics of animal personality.

    PubMed

    van Oers, Kees; Mueller, Jakob C

    2010-12-27

    Research on animal personality can be approached from both a phenotypic and a genetic perspective. While using a phenotypic approach one can measure present selection on personality traits and their combinations. However, this approach cannot reconstruct the historical trajectory that was taken by evolution. Therefore, it is essential for our understanding of the causes and consequences of personality diversity to link phenotypic variation in personality traits with polymorphisms in genomic regions that code for this trait variation. Identifying genes or genome regions that underlie personality traits will open exciting possibilities to study natural selection at the molecular level, gene-gene and gene-environment interactions, pleiotropic effects and how gene expression shapes personality phenotypes. In this paper, we will discuss how genome information revealed by already established approaches and some more recent techniques such as high-throughput sequencing of genomic regions in a large number of individuals can be used to infer micro-evolutionary processes, historical selection and finally the maintenance of personality trait variation. We will do this by reviewing recent advances in molecular genetics of animal personality, but will also use advanced human personality studies as case studies of how molecular information may be used in animal personality research in the near future. PMID:21078651

  12. Personalized Cancer Risk Assessments for Space Radiation Exposures.

    PubMed

    Locke, Paul A; Weil, Michael M

    2016-01-01

    Individuals differ in their susceptibility to radiogenic cancers, and there is evidence that this inter-individual susceptibility extends to HZE ion-induced carcinogenesis. Three components of individual risk: sex, age at exposure, and prior tobacco use, are already incorporated into the NASA cancer risk model used to determine safe days in space for US astronauts. Here, we examine other risk factors that could potentially be included in risk calculations. These include personal and family medical history, the presence of pre-malignant cells that could undergo malignant transformation as a consequence of radiation exposure, the results from phenotypic assays of radiosensitivity, heritable genetic polymorphisms associated with radiosensitivity, and postflight monitoring. Inclusion of these additional risk or risk reduction factors has the potential to personalize risk estimates for individual astronauts and could influence the determination of safe days in space. We consider how this type of assessment could be used and explore how the provisions of the federal Genetic Information Non-discrimination Act could impact the collection, dissemination and use of this information by NASA. PMID:26942127

  13. Personalized Cancer Risk Assessments for Space Radiation Exposures

    PubMed Central

    Locke, Paul A.; Weil, Michael M.

    2016-01-01

    Individuals differ in their susceptibility to radiogenic cancers, and there is evidence that this inter-individual susceptibility extends to HZE ion-induced carcinogenesis. Three components of individual risk: sex, age at exposure, and prior tobacco use, are already incorporated into the NASA cancer risk model used to determine safe days in space for US astronauts. Here, we examine other risk factors that could potentially be included in risk calculations. These include personal and family medical history, the presence of pre-malignant cells that could undergo malignant transformation as a consequence of radiation exposure, the results from phenotypic assays of radiosensitivity, heritable genetic polymorphisms associated with radiosensitivity, and postflight monitoring. Inclusion of these additional risk or risk reduction factors has the potential to personalize risk estimates for individual astronauts and could influence the determination of safe days in space. We consider how this type of assessment could be used and explore how the provisions of the federal Genetic Information Non-discrimination Act could impact the collection, dissemination and use of this information by NASA. PMID:26942127

  14. Personalized Biochemistry and Biophysics

    PubMed Central

    2016-01-01

    Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine. PMID:25856502

  15. LIMITING OCCUPATIONAL MEDICAL EVALUATIONS UNDER THE AMERICANS WITH DISABILITIES ACT AND THE GENETIC INFORMATION NONDISCRIMINATION ACT.

    PubMed

    Rothstein, Mark A; Roberts, Jessica; Guidotti, Tee L

    2015-01-01

    Although medical care delivery by one's personal physician is the paradigmatic American healthcare arrangement, in the workplace setting, many Americans undergo medical evaluations to assess their fitness for duty or degree of impairment. This Article explores the complex and evolving legal status of occupational medical evaluations. Beginning with the legal and ethical frameworks of occupational medical practice, the Article then examines the effects of increasingly detailed legal regulation under the Americans with Disabilities Act and the Genetic Information Nondiscrimination Act on employees, employers, and physicians. PMID:26863849

  16. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  17. Personality and temperament.

    PubMed

    Lilenfeld, Lisa Rachelle Riso

    2011-01-01

    The assessment of personality and temperament in the context of eating disorders (EDs) poses unique challenges because of the physiological symptoms and sequelae of these illnesses. Four models of the relationship between personality and EDs are presented, along with a discussion of the different methodological designs which can evaluate these models. Current data support the likelihood that neuroticism and perfectionism are risk factors for EDs. Perfectionism and the related obsessive-compulsive personality disorder may also share a common cause with anorexia nervosa. High harm avoidance and low self-directedness also characterize all EDs, though more data are needed to confirm their role as risk factors; importantly however, this combination of traits may diminish one's ability to cope with stressful life events. At the other end of the spectrum, considering impulsivity multidimensionally may be important to understanding the role of this personality trait in EDs, though existing data do not yet allow for conclusions regarding its role as a risk factor versus a consequence of the ED. All of the identified traits that may be risk factors are also exacerbated as a consequence of having, or having had, an ED. Finally, the role of personality disorders in influencing the course and outcome of EDs is still unclear. A fruitful avenue for future research in this area is to utilize personality and temperament to classify individuals in a way that allows for the best chance of identifying genetic loci that confer increased risk for EDs. PMID:21243467

  18. [Genetics and genetic counseling].

    PubMed

    Izzi, Claudia; Liut, Francesca; Dallera, Nadia; Mazza, Cinzia; Magistroni, Riccardo; Savoldi, Gianfranco; Scolari, Francesco

    2016-01-01

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist. PMID:27067213

  19. Mystery Person

    ERIC Educational Resources Information Center

    O'Brien, Tom

    2011-01-01

    This article features a mathematical game called "Mystery Person." The author describes how the Mystery Person game was tried with first-graders [age 6]. The Mystery games involve the generation of key questions, the coordination of information--often very complex information--and the formulation of consequences based on this coordination.…

  20. Personal Finance.

    ERIC Educational Resources Information Center

    Wagner, June G.

    2003-01-01

    This newsletter presents four articles designed to help business educators educate learners in grades K-12 about personal finance. "Now More Than Ever: The Need for Financial Literacy" examines the following topics: evidence that the United States is becoming a nation of debtors; the plummeting personal savings rate; the increasing complexity of…

  1. What Is Genetic Ancestry Testing?

    MedlinePlus

    ... from relatives or from historical documentation. Examination of DNA variations can provide clues about where a person's ... families with the same surname are related. Mitochondrial DNA testing: This type of testing identifies genetic variations ...

  2. Personal Competencies in Personalized Learning

    ERIC Educational Resources Information Center

    Redding, Sam

    2014-01-01

    Personal competencies--cognitive, metacognitive, motivational, and social/emotional--are applied by students in learning (mastery of knowledge and skills). These competencies are both acquired through learning and applied in the learning process. Personalized learning--a promising approach to education made practical by advances in…

  3. Medical genetics

    SciTech Connect

    Nora, J.J.; Fraser, F.C.

    1989-01-01

    This book presents a discussion of medical genetics for the practitioner treating or counseling patients with genetic disease. It includes a discussion of the relationship of heredity and diseases, the chromosomal basis for heredity, gene frequencies, and genetics of development and maldevelopment. The authors also focus on teratology, somatic cell genetics, genetics and cancer, genetics of behavior.

  4. Genetic counseling: a transnational perspective.

    PubMed

    Elackatt, Niby J

    2013-12-01

    Although the basic goal and components of genetic counseling appears to be the same across the globe, judged by my experiences there are significant differences in the provision of genetic counseling services in Australasia (Australia and New Zealand) and India. There is poor recognition of the professional status of a genetic counselor in India at present. This may be partly because genetic counseling itself is a relatively new discipline within the medical field in India, although some types of genetic services and research have been conducted since 1960s. In this paper, I aim to provide insight from my personal transnational experiences. PMID:23677536

  5. Personal Responsibility and Lifestyle Diseases.

    PubMed

    Andersen, Martin Marchman; Nielsen, Morten Ebbe Juul

    2016-10-01

    What does it take for an individual to be personally responsible for behaviors that lead to increased risk of disease? We examine three approaches to responsibility that cover the most important aspects of the discussion of responsibility and spell out what it takes, according to each of them, to be responsible for behaviors leading to increased risk of disease. We show that only what we call the causal approach can adequately accommodate widely shared intuitions to the effect that certain causal influences-such as genetic make-up or certain social circumstances-diminish, or undermine personal responsibility. However, accepting the causal approach most likely makes personal responsibility impossible. We therefore need either to reject these widely shared intuitions about what counts as responsibility-softening or undermining or to accept that personal responsibility for behaviors leading to increased risk of disease rests on premises so shaky that personal responsibility is probably impossible. PMID:27473408

  6. Motherhood and Genetic Screening: A Personal Perspective

    ERIC Educational Resources Information Center

    Place, Fiona

    2008-01-01

    According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images…

  7. Medical genetics

    SciTech Connect

    Jorde, L.B.; Carey, J.C.; White, R.L.

    1995-10-01

    This book on the subject of medical genetics is a textbook aimed at a very broad audience: principally, medical students, nursing students, graduate, and undergraduate students. The book is actually a primer of general genetics as applied to humans and provides a well-balanced introduction to the scientific and clinical basis of human genetics. The twelve chapters include: Introduction, Basic Cell Biology, Genetic Variation, Autosomal Dominant and Recessive Inheritance, Sex-linked and Mitochondrial Inheritance, Clinical Cytogenetics, Gene Mapping, Immunogenetics, Cancer Genetics, Multifactorial Inheritance and Common Disease, Genetic Screening, Genetic Diagnosis and Gene Therapy, and Clinical Genetics and Genetic Counseling.

  8. [A genetic ID for tomorrow?].

    PubMed

    Perbal, Laurence

    2015-01-01

    Dozens of private companies have emerged in 2005, with the commercial purpose of offering the public a wide variety of personal genetic tests - direct-to-consumer personal genome tests. Simultaneously, a collaborative research initiative on individual sequencing - the Personal Genome Project - was born in Harvard University, then online. This text provides an analysis of the promises and limits of the proposed individual sequencing. First, the scope and quality of individual predictive genetic sequencing are still far from being acquired. Moreover, it is necessary to question the ethical standards of confidentiality and respect for privacy in the connected information era. PMID:26211982

  9. Genetic algorithms

    NASA Technical Reports Server (NTRS)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  10. Personality Measurement and Assessment in Large Panel Surveys*

    PubMed Central

    Roberts, Brent; Jackson, Joshua J.; Duckworth, Angela L.; Von Culin, Katherine

    2013-01-01

    Personality tests are being added to large panel studies with increasing regularity, such as the Health and Retirement Study (HRS). To facilitate the inclusion and interpretation of these tests, we provide some general background on personality psychology, personality assessment, and the validity of personality tests. In this review, we provide background on definitions of personality, the strengths and weaknesses of the self-report approaches to personality testing typically used in large panel studies, and the validity of personality tests for three outcomes: genetics, income, and health. We conclude with recommendations on how to improve personality assessment in future panel studies. PMID:23503719

  11. Fifty years of genetic load: An odyssey

    SciTech Connect

    Wallace, B.

    1991-01-01

    This book is an engaging, personalized account of attempts in population genetics to develop a useful quantitative theory of genetic load. The author concludes that genetic loads do not tell us anything about real populations because of the conceptual ambiguities and the oversimplified view of differential reproductive success.

  12. New Genetics

    MedlinePlus

    ... human genome, behavioral genetics, pharmacogenetics, drug resistance, biofilms, computer modeling. » more Chapter 5: 21st-Century Genetics Covers systems biology, GFP, genetic testing, privacy concerns, DNA forensics, ...

  13. Genetic Counseling

    MedlinePlus

    ... Articles Genetic Counseling Information For... Media Policy Makers Genetic Counseling Language: English Español (Spanish) Recommend on Facebook ... informed decisions about testing and treatment. Reasons for Genetic Counseling There are many reasons that people go ...

  14. Personalized Medicine in Cardiovascular Diseases

    PubMed Central

    Lee, Moo-Sik; Flammer, Andreas J.; Lerman, Lilach O.

    2012-01-01

    Personalized medicine is a novel medical model with all decisions and practices being tailored to individual patients in whatever ways possible. In the era of genomics, personalized medicine combines the genetic information for additional benefit in preventive and therapeutic strategies. Personalized medicine may allow the physician to provide a better therapy for patients in terms of efficiency, safety and treatment length to reduce the associated costs. There was a remarkable growth in scientific publication on personalized medicine within the past few years in the cardiovascular field. However, so far, only very few cardiologists in the USA are incorporating personalized medicine into clinical treatment. We review the concepts, strengths, limitations and challenges of personalized medicine with a particular focus on cardiovascular diseases (CVDs). There are many challenges from both scientific and policy perspectives to personalized medicine, which can overcome them by comprehensive concept and understanding, clinical application, and evidence based practices. Individualized medicine serves a pivotal role in the evolution of national and global healthcare reform, especially, in the CVDs fields. Ultimately, personalized medicine will affect the entire landscape of health care system in the near future. PMID:23091501

  15. Personal Finance.

    ERIC Educational Resources Information Center

    Marine Corps Inst., Washington, DC.

    Developed as part of the Marine Corps Institute (MCI) correspondence training program, this course on personal finance is designed to provide all Marines with the ability to manage their financial affairs successfully. Introductory materials include specific information for MCI students, a course introduction, and a study guide (guidelines to…

  16. Political Attitudes Develop Independently of Personality Traits

    PubMed Central

    Hatemi, Peter K.; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area. PMID:25734580

  17. Political attitudes develop independently of personality traits.

    PubMed

    Hatemi, Peter K; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area. PMID:25734580

  18. Teacher Burnout: Relations with Stress, Personality, and Social Support.

    ERIC Educational Resources Information Center

    Mo, Kim-wan

    1991-01-01

    Discusses a study of relationships among secondary school teachers' occupational stress, personality type, and social support. Reports greater burnout among single and newer teachers, graduate status teachers, those undergoing more stress, and those lacking social support. Concludes that teachers with Type A personalities suffered less from…

  19. [Dis-social personality disorder].

    PubMed

    Habermeyer, E; Herpertz, S C

    2006-05-01

    Deviant behavior is gaining in clinical importance if it is founded on stable, characteristic, and enduring patterns of psychopathologically relevant personality traits which have their onset in childhood or adolescence. The classification of these traits shows variations, so that a distinction between the ICD-10 diagnosis of dis-social personality disorder, DSM-IV diagnosis of antisocial personality disorder, and the concept "psychopathy" is necessary. Our knowledge about the biological basis of antisocial behavior includes neurophysiologic, psychophysiologic, and genetic findings. Also relevant are results of neurotransmitter studies and structural resp. functional neuroimaging findings. Psychosocial risk factors include parental deficits, rejection, disregard, unstable relations, and abuse. Efficient psychotherapeutic treatment is cognitive-behavioral. Pharmacologic treatment is largely "off-label". The diagnosis of antisocial and dis-social personality disorders allows no conclusions on criminal responsibility. In addition to psychiatric diagnostics, considerations on the severity of the disorder and its effects on the ability to inhibit actions are necessary. PMID:16609871

  20. Mechanisms shaping the development of personality and personality disorders in children and adolescents.

    PubMed

    Lenkiewicz, Kamila; Srebnicki, Tomasz; Bryńska, Anita

    2016-01-01

    Until the end of the nineties last century personality disorders could not be diagnosed before the age of eighteen. Nevertheless, the results of studies published in the last decade have revealed that personality disorders can be observed in children and adolescents and that personality disorders diagnosed in adult patients had been present as early as in childhood. The knowledge of possible mechanisms shaping personality disorders in childhood is unsatisfactory and needs to be expanded. Developmental psychology explains the development of abnormal personality through inappropriate attachment patterns and abnormal transitions between developmental phases. Genetic and temperamental factors are also important in the aetiology of personality disorders as well as early maladaptive schemas resulting from personal experiences and interactions with others. The aim of this article is to review the current knowledge on the mechanisms shaping the development of personality and personality disorders in childhood and adolescence. PMID:27556119

  1. Personal Epistemology and Personal Experience.

    ERIC Educational Resources Information Center

    Unger, Rhoda K.; And Others

    1986-01-01

    The world view of students was investigated, measuring covert causal assumptions about the relationship between the person and physical and social reality. The results indicate that people place themselves in particular intellectual arenas because of their preexisting ideology. Suggestions for further study are made. (PS)

  2. Personal Beacon

    NASA Technical Reports Server (NTRS)

    2000-01-01

    The MicroPLB (personal locator beacon) is a search and rescue satellite-aided tracking (SARSAT) transmitter. When activated it emits a distress signal to a constellation of internationally operated satellites. The endangered person's identity and location anywhere on Earth is automatically forwarded to central monitoring stations around the world. It is accurate to within just a few meters. The user uses the device to download navigation data from a global positioning satellite receiver. After the download is complete, the MicroPLB functions as a self-locating beacon. Also, it is the only PLB to use a safe battery. In the past, other PLB devices have used batteries that have enough volatility to explode with extreme force. It was developed by Microwave Monolithic, Inc. through SBIR funding from Glenn Research Center and Goddard Space Flight Center.

  3. Personalized Medicine for Gliomas

    PubMed Central

    Ene, Chibawanye I.; Holland, Eric C.

    2015-01-01

    Personalized medicine for cancer entails tailoring therapy for each patient based on unique features of the patient's tumor; physiologic, molecular, genetic and epigenetic. Our ability to molecularly characterize tumor cells has increased dramatically and shown that there are significant differences between samples from patients with the same tumor type. Given this extensive variability in mutations and pathways driving tumors in patients, seeking a single bullet is an unrealistic approach for achieving a cure. In glioblastoma multiforme (GBM), the most common adult brain tumor, this inter-tumoral heterogeneity is further complicated by intra-tumoral heterogeneity within the tumor. This suggests that for personalized therapy to work for GBMs, pharmacologic agents would not only be tailored to target the differences from patient to patient but also the clonal diversity within each patient's tumor. In this review, we provide a historical perspective on clinical trials for cancer. We also discuss the current state of molecular biology and immunology based strategies for personalized therapies for glioblastoma multiforme. PMID:25722938

  4. Genomes, Populations and Diseases: Ethnic Genomics and Personalized Medicine

    PubMed Central

    Stepanov, V.A.

    2010-01-01

    This review discusses the progress of ethnic genetics, the genetics of common diseases, and the concepts of personalized medicine. We show the relationship between the structure of genetic diversity in human populations and the varying frequencies of Mendelian and multifactor diseases. We also examine the population basis of pharmacogenetics and evaluate the effectiveness of pharmacotherapy, along with a review of new achievements and prospects in personalized genomics. PMID:22649660

  5. The genetics of multiple sclerosis.

    PubMed

    Lin, Rui; Charlesworth, Jac; van der Mei, Ingrid; Taylor, Bruce V

    2012-10-01

    Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. Improved prevention and treatment will depend on a greater understanding of the causes and mechanisms involved in its onset and progression. MS is clearly driven by both environmental and genetic factors. Established contributory environmental factors include lower ultraviolet radiation exposure and lower vitamin D levels, Epstein-Barr virus and smoking. Our current understanding of MS genetics is undergoing a major upgrade as new genetic technologies are applied to large MS studies. In this article, we review the current literature describing a genetic contribution to MS susceptibility and review the methods to detect genetic variants that may underlie the genetic contribution to MS. We also consider how reporting of genetic discoveries in MS in the lay press has caused some confusion among patients and their families, who, not surprisingly, think that these discoveries can be translated into an available genetic test to diagnose MS or recognise family members at risk of developing MS. We review the current limited clinical use of genetics in the diagnosis and management of MS. PMID:22976058

  6. Personality: Is It a Product of Nature, Nurture, and/or Personal Choice?

    ERIC Educational Resources Information Center

    Parish, Thomas S.; Barness, Ryan

    2009-01-01

    Are we creatures of nature, nurture, and/or personal choice? The answer to this question, of course, is "yes." This brief report, however, will offer some insights regarding what might happen genetically and environmentally that could impact our personalities, and then we'll consider some of the many options each of us might have to take upon…

  7. Viscoelastic behavior of polymers undergoing crosslinking reactions.

    NASA Technical Reports Server (NTRS)

    Moacanin, J.; Aklonis, J. J.

    1971-01-01

    Previously a method was developed for predicting the viscoelastic response of polymers undergoing scission reactions. These results are now extended to include crosslinking reactions. As for scission, at any given time the character of the network chains is determined by the instantaneous crosslink density. For scission all chains were assumed to carry the same stress; for crosslinking, however, the stress is distributed between the 'new' and 'old' chains. Equations for calculating the creep response of a system which experiences a step increase in crosslink density are derived.

  8. Granulocyte kinetics in donors undergoing filtration leukapheresis.

    PubMed

    Rubins, J M; MacPherson, J L; Nusbacher, J; Wiltbank, T

    1976-01-01

    Normal blood donors undergoing filtration leukapheresis (FL) have a profound transient neutropenia early in the procedure which is followed by a "rebound" neutrophilia. This phenomenon occurs in unstimulated donors as well as in donors pretreated with either prednisone or dexamethasone. The mechanism for development of the neutropenia was investigated in volunteers throug a nylon filter at 37 C, a significant but transient neutropenia was observed. Plasma rendered cell and stroma-free achieved the same result indicating that plasma alone, when exposed to nylon fibers, is capable of producing neutropenia. PMID:1251458

  9. Oral surgery in patients undergoing chemoradiation therapy.

    PubMed

    Demian, Nagi M; Shum, Jonathan W; Kessel, Ivan L; Eid, Ahmed

    2014-05-01

    Oral health care in patients undergoing chemotherapy and/or radiation therapy can be complex. Care delivered by a multidisciplinary approach is timely and streamlines the allocation of resources to provide prompt care and to attain favorable outcomes. A hospital dentist, oral and maxillofacial surgeon, and a maxillofacial prosthodontist must be involved early to prevent avoidable oral complications. Prevention and thorough preparation are vital before the start of chemotherapy and radiation therapy. Oral complications must be addressed immediately and, even with the best management, can cause delays and interruption in treatment, with serious consequences for the outcome and prognosis. PMID:24794266

  10. Longitudinal Interviews of Couples Diagnosed with Diminished Ovarian Reserve Undergoing Fragile X Premutation Testing

    PubMed Central

    Pastore, Lisa M; Karns, Logan B; Ventura, Karen; Clark, Myra L.; Steeves, Richard H.; Callanan, Nancy

    2013-01-01

    About 10% of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5% will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27–50 CGG repeats).For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications. PMID:23764957

  11. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market.

    PubMed

    Harris, Anna; Kelly, Susan E; Wyatt, Sally

    2013-04-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics. PMID:23093333

  12. Pharmacogenetics: implementing personalized medicine.

    PubMed

    Mini, Enrico; Nobili, Stefania

    2009-01-01

    Pharmacogenetics and pharmacogenomics have been widely recognized as fundamental steps toward personalized medicine. They deal with genetically determined variants in how individuals respond to drugs, and hold the promise to revolutionize drug therapy by tailoring it according to individual genotypes.The clinical need for novel approaches to improve drug therapy derives from the high rate of adverse reactions to drugs and their lack of efficacy in many individuals that may be predicted by pharmacogenetic testing.Significant advances in pharmacogenetic research have been made since inherited differences in response to drugs such as isoniazid and succinylcholine were explored in the 1950s. The clinical utility and applications of pharmacogenetics and pharmacogenomics are at present particularly evident in some therapeutic areas (anticancer, psycotrophic, and anticoagulant drugs).Recent evidence derived from several studies includes screening for thiopurine methyl transferase or uridine 5'-diphosphoglucuronosyl-transferase 1A1 gene polymorphisms to prevent mercaptopurine and azathioprine or irinotecan induced myelosuppression, respectively. Also there is a large body of information concerning cytochrome P450 gene polymorphisms and their relationship to drug toxicity and response. Further examples include screening the presence of the HLA-B*5701 allele to prevent the hypersensitivity reactions to abacavir and the assessment of the human epidermal growth factor receptor (HER-2) expression for trastuzumab therapy of breast cancer or that of KRAS mutation status for cetuximab or panitumumab therapy in colorectal cancer.Moreover, the application of pharmacogenetics and pharmacogenomics to therapies used in the treatment of osteoarticular diseases (e.g. rheumatoid arthritis, osteoporosis) holds great promise for tailoring therapy with clinically relevant drugs (e.g. disease-modifying antirheumatic drugs, vitamin D, and estrogens). Although the classical candidate gene

  13. Spatial learning in men undergoing alcohol detoxification.

    PubMed

    Ceccanti, Mauro; Hamilton, Derek; Coriale, Giovanna; Carito, Valentina; Aloe, Luigi; Chaldakov, George; Romeo, Marina; Ceccanti, Marco; Iannitelli, Angela; Fiore, Marco

    2015-10-01

    Alcohol dependence is a major public health problem worldwide. Brain and behavioral disruptions including changes in cognitive abilities are common features of alcohol addiction. Thus, the present study was aimed to investigate spatial learning and memory in 29 alcoholic men undergoing alcohol detoxification by using a virtual Morris maze task. As age-matched controls we recruited 29 men among occasional drinkers without history of alcohol dependence and/or alcohol related diseases and with a negative blood alcohol level at the time of testing. We found that the responses to the virtual Morris maze are impaired in men undergoing alcohol detoxification. Notably they showed increased latencies in the first movement during the trials, increased latencies in retrieving the hidden platform and increased latencies in reaching the visible platform. These findings were associated with reduced swimming time in the target quadrant of the pool where the platform had been during the 4 hidden platform trials of the learning phase compared to controls. Such increasing latency responses may suggest motor control, attentional and motivational deficits due to alcohol detoxification. PMID:26143187

  14. Genetic Mapping

    MedlinePlus

    ... Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education Resources ... prevalent. Using various laboratory techniques, the scientists isolate DNA from these samples and examine it for unique ...

  15. Genetic counseling

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000510.htm Genetic counseling To use the sharing features on this ... cystic fibrosis or Down syndrome. Who May Want Genetic Counseling? It is up to you whether or ...

  16. Genetic counseling

    MedlinePlus

    Genetics is the study of heredity, the process of a parent passing certain genes on to their ... certain diseases are also often determined by genes. Genetic counseling is the process where parents can learn ...

  17. Genetic Disorders

    MedlinePlus

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  18. Borderline Personality

    PubMed Central

    Sansone, Randy A.; Sansone, Lori A.

    2004-01-01

    BORDERLINE PERSONALITY DISORDER (BPD) IS A COMPLEX AXIS II Phenomenon that is typically described in a psychological or psychiatric context. In this article, we translate the various aspects of BPD to the primary care setting. Previous work in this area has explored specific relationships between BPD and individual medical disorders or between BPD and general somatic symptoms, but the synthesis of these findings and their augmentation with cogent psychological theory is new to the field. Specifically, we highlight the prevalence rate of BPD in the primary care setting, the effects on healthcare utilization, the themes of somatic preoccupation and somatization disorder, several medical syndromes that illustrate the dynamics of the disorder in the medical setting, and the relationship of BPD to disability. We believe that the BPD concept needs to extend beyond its traditional psychological/psychiatric borders to include the subset of BPD patients with somatic symptoms who are seen in primary care settings. PMID:21197375

  19. Genetic modification and genetic determinism

    PubMed Central

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  20. Comparing genetic counselor’s and patient’s perceptions of needs in prenatal chromosomal microarray testing

    PubMed Central

    Walser, Sarah A.; Kellom, Katherine S.; Palmer, Steven C.; Bernhardt, Barbara A.

    2015-01-01

    OBJECTIVE Chromosome microarray analysis (CMA) is poised to take a significant place in the prenatal setting given its increased yield over standard karyotyping, but concerns regarding ethical and counseling challenges remain, especially associated with the risk of uncertain and incidental findings. Guidelines recommend patients receiving prenatal screening undergo genetic counseling prior to testing, but little is known about women’s specific pre- and post-testing informational needs, as well as their preference for return of various types of results. METHODS The present study surveys 199 prenatal genetic counselors who have counseled patients undergoing CMA testing and 152 women who have undergone testing on the importance of understanding pre-test information, return of various types of results, and resources made available following an abnormal finding. RESULTS Counselors and patients agree on many aspects, although findings indicate patients consider all available information very important, while genetic counselors give more varying ratings. CONCLUSION Counseling sessions would benefit from information personalized to a patient’s particular needs and a shared decision-making model, so as to reduce informational overload and avoid unnecessary anxiety. Additionally, policies regarding the return of various types of results are needed. PMID:25995037

  1. Consumers on the Internet: ethical and legal aspects of commercialization of personalized nutrition.

    PubMed

    Ahlgren, Jennie; Nordgren, Anders; Perrudin, Maud; Ronteltap, Amber; Savigny, Jean; van Trijp, Hans; Nordström, Karin; Görman, Ulf

    2013-07-01

    Consumers often have a positive attitude to the option of receiving personalized nutrition advice based upon genetic testing, since the prospect of enhancing or maintaining one's health can be perceived as empowering. Current direct-to-consumer services over the Internet, however, suffer from a questionable level of truthfulness and consumer protection, in addition to an imbalance between far-reaching promises and contrasting disclaimers. Psychological and behavioral studies indicate that consumer acceptance of a new technology is primarily explained by the end user's rational and emotional interpretation as well as moral beliefs. Results from such studies indicate that personalized nutrition must create true value for the consumer. Also, the freedom to choose is crucial for consumer acceptance. From an ethical point of view, consumer protection is crucial, and caution must be exercised when putting nutrigenomic-based tests and advice services on the market. Current Internet offerings appear to reveal a need to further guaranty legal certainty by ensuring privacy, consumer protection and safety. Personalized nutrition services are on the borderline between nutrition and medicine. Current regulation of this area is incomplete and undergoing development. This situation entails the necessity for carefully assessing and developing existing rules that safeguard fundamental rights and data protection while taking into account the sensitivity of data, the risks posed by each step in their processing, and sufficient guarantees for consumers against potential misuse. PMID:23471853

  2. Imaging Genetics

    ERIC Educational Resources Information Center

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  3. Reducing psychological distress in patients undergoing chemotherapy.

    PubMed

    Milanti, Ariesta; Metsälä, Eija; Hannula, Leena

    Psychological distress is a common problem among patients with cancer, yet it mostly goes unreported and untreated. This study examined the association of a psycho-educational intervention with the psychological distress levels of breast cancer and cervical cancer patients undergoing chemotherapy. The design of the study was quasi-experimental, pretest-posttest design with a comparison group. One hundred patients at a cancer hospital in Jakarta, Indonesia, completed Distress Thermometer screening before and after chemotherapy. Fifty patients in the intervention group were given a psycho-educational video with positive reappraisal, education and relaxation contents, while receiving chemotherapy. Patients who received the psycho-educational intervention had significantly lower distress levels compared with those in the control group. Routine distress screening, followed by distress management and outcome assessment, is needed to improve the wellbeing of cancer patients. PMID:26911178

  4. Is Personalized Medicine Achievable in Obstetrics?

    PubMed Central

    Quinney, Sara K; Flockhart, David A; Patil, Avinash S

    2014-01-01

    Personalized medicine seeks to identify the right dose of the right drug for the right patient at the right time. Typically, individualization of therapy is based on the pharmacogenomic make-up of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy a woman’s body undergoes many changes that can impact the therapeutic efficacy of medications. Yet, there is minimal research regarding personalized medicine in obstetrics. Adoption of pharmacogenetic testing into the obstetrical care is dependent on evidence of analytical validity, clinical validity, and clinical utility. Here, we briefly present information regarding the potential utility of personalized medicine for treating the obstetric patient for pain with narcotics, hypertension, and preterm labor and discuss the impediments of bringing personalized medicine to the obstetrical clinic. PMID:25282474

  5. Genetics in the art and art in genetics.

    PubMed

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. PMID:25089030

  6. Personalized medicine: new genomics, old lessons.

    PubMed

    Offit, Kenneth

    2011-07-01

    Personalized medicine uses traditional, as well as emerging concepts of the genetic and environmental basis of disease to individualize prevention, diagnosis and treatment. Personalized genomics plays a vital, but not exclusive role in this evolving model of personalized medicine. The distinctions between genetic and genomic medicine are more quantitative than qualitative. Personalized genomics builds on principles established by the integration of genetics into medical practice. Principles shared by genetic and genomic aspects of medicine, include the use of variants as markers for diagnosis, prognosis, prevention, as well as targets for treatment, the use of clinically validated variants that may not be functionally characterized, the segregation of these variants in non-Mendelian as well as Mendelian patterns, the role of gene--environment interactions, the dependence on evidence for clinical utility, the critical translational role of behavioral science, and common ethical considerations. During the current period of transition from investigation to practice, consumers should be protected from harms of premature translation of research findings, while encouraging the innovative and cost-effective application of those genomic discoveries that improve personalized medical care. PMID:21706342

  7. Correlation not Causation: The Relationship between Personality Traits and Political Ideologies

    PubMed Central

    Verhulst, Brad; Eaves, Lindon J.; Hatemi, Peter K.

    2013-01-01

    The assumption in the personality and politics literature is that a person's personality motivates them to develop certain political attitudes later in life. This assumption is founded on the simple correlation between the two constructs and the observation that personality traits are genetically influenced and develop in infancy, whereas political preferences develop later in life. Work in psychology, behavioral genetics, and recently political science, however, has demonstrated that political preferences also develop in childhood and are equally influenced by genetic factors. These findings cast doubt on the assumed causal relationship between personality and politics. Here we test the causal relationship between personality traits and political attitudes using a direction of causation structural model on a genetically informative sample. The results suggest that personality traits do not cause people to develop political attitudes; rather, the correlation between the two is a function of an innate common underlying genetic factor. PMID:22400142

  8. Personalized medicine approach in mycobacterial disease

    PubMed Central

    Mirsaeidi, Mehdi

    2014-01-01

    Mycobacterial diseases are a group of illnesses that cause a considerable number of deaths throughout the world, regardless of years of public health control efforts. Personalized medicine is a new but rapidly advancing field of healthcare. Personalized medicine in the field of mycobacteriology may be applied in the different levels of management such as prevention, diagnosis, treatment and prognosis. A genetic predisposition and a protein dysfunction study are recommended to tailor an individual approach in mycobacterial diseases. PMID:25126491

  9. Personality and Person Perception: A Person-Situation Analysis.

    ERIC Educational Resources Information Center

    Battistich, Victor A.

    There is a common assumption in personality psychology that an individual's attitudinal and/or motivational characteristics influence the selection, interpretation, and encoding of information from the external environment. However, recent reviews of empirical research in such areas as implicit personality theory and person perception offer little…

  10. The genetic predisposition to cancer.

    PubMed

    Knudson, A G

    1989-01-01

    The multi-stage nature of cancer, and the interaction of the host and environment in the origin of cancer, both suggest multiple ways in which genetic predisposition to cancer might operate. A role for genetic variation has already been demonstrated in many instances and it is likely that still more examples of genetic predisposition will be uncovered. In some individuals genetic predisposition operates interactively with environment. Much of human cancer may occur in persons of this interactive oncodeme. Other persons have a very strong susceptibility to cancer because they have inherited a mutation on the path to cancer; they belong to a "purely" genetic oncodeme. The population of target cells itself is known to be affected by some environmental agents. Genetic factors may also operate, as in the X-linked lymphoproliferative syndrome with its predisposition to Burkitt lymphoma. Somatic mutation plays a critical role in carcinogenesis. Numerous environmental agents can increase the probability that somatic mutation will occur. Host genes can interact with these factors in two general ways. One concerns the ability to repair the damage caused by the agent. Most of the damage is repaired in normal persons, but much more is not repaired in persons with certain recessively inherited disorders, known as DNA-repair deficiencies. The other general way concerns the delivery of the critical agent. For example, the albino absorbs such excessive amounts of sunlight that even a normal DNA-repair mechanism is stressed. Similarly, some individuals metabolize certain chemical compounds in such a way that the concentration of an active mutagen is abnormally high, again overcoming the DNA-repair mechanism. The stages of promotion, progression, and metastasis are much less well understood, and clear examples of a role for genetic factors in them are not available. However, there are multiple ways in which heredity could be interacting, as with a genetic control of hormone

  11. Needed Research on the Genes and Environment in Human Psychological Development: Perspectives from Behavior Genetics. A Special Report of the USOE-Sponsored Grant Study: Critical Appraisal of Research in the Personality-Emotions-Motivation Domain.

    ERIC Educational Resources Information Center

    Loehlin, John C.; And Others

    The task group report presented in this publication is one of a series prepared by eminent psychologists who have served as consultants in the U.S.O.E.-sponsored grant study to conduct a Critical Appraisal of the Personality-Emotions-Motivation Domain. In order to attain the goal of identifying important problems and areas for new research and…

  12. The Genetic Privacy Act and commentary

    SciTech Connect

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. Therefore, to effectively protect genetic privacy unauthorized collection and analysis of individually identifiable DNA must be prohibited. As a result, the premise of the Act is that no stranger should have or control identifiable DNA samples or genetic information about an individual unless that individual specifically authorizes the collection of DNA samples for the purpose of genetic analysis, authorized the creation of that private information, and has access to and control over the dissemination of that information.

  13. Genetic coding and gene expression - new Quadruplet genetic coding model

    NASA Astrophysics Data System (ADS)

    Shankar Singh, Rama

    2012-07-01

    Successful demonstration of human genome project has opened the door not only for developing personalized medicine and cure for genetic diseases, but it may also answer the complex and difficult question of the origin of life. It may lead to making 21st century, a century of Biological Sciences as well. Based on the central dogma of Biology, genetic codons in conjunction with tRNA play a key role in translating the RNA bases forming sequence of amino acids leading to a synthesized protein. This is the most critical step in synthesizing the right protein needed for personalized medicine and curing genetic diseases. So far, only triplet codons involving three bases of RNA, transcribed from DNA bases, have been used. Since this approach has several inconsistencies and limitations, even the promise of personalized medicine has not been realized. The new Quadruplet genetic coding model proposed and developed here involves all four RNA bases which in conjunction with tRNA will synthesize the right protein. The transcription and translation process used will be the same, but the Quadruplet codons will help overcome most of the inconsistencies and limitations of the triplet codes. Details of this new Quadruplet genetic coding model and its subsequent potential applications including relevance to the origin of life will be presented.

  14. Oprelvekin. Genetics Institute.

    PubMed

    Sitaraman, S V; Gewirtz, A T

    2001-10-01

    Genetics Institute has developed and launched oprelvekin (rhIL-11; Neumega), a recombinant form of human IL-11. In November 1997, the FDA cleared oprelvekin for the prevention of severe thrombocytopenia and the reduction of the need for platelet transfusions following myelosuppressive chemotherapy in susceptible patients with non-myeloid malignancies 12703021. The product was launched at the end of 1997 [312556]. By December 1999, phase III trials for Crohn's disease (CD) were underway [363007]. Genetics Institute had commenced a 150-patient phase II trial for mild-to-moderate CD and mucositis and the company planned to file regulatory procedures for the indication of CD in 1999 [271210]. An oral formulation for this indication has been developed. Oprelvekin is also undergoing phase I clinical trials for colitis [396157], phase II clinical trials for rheumatoid arthritis [413835] and clinical trials for psoriasis [299644]. In March 1997, Wyeth-Ayerst became the licensee for Europe, Africa, Latin America and Asia (with the exception of Japan). Genetics Institute holds marketing rights for North America [239273]. In Japan, oprelvekin is being developed by Genetics Institute and Yamanouchi; phase III trials have commenced [295049] and were ongoing in May 2001 [411763]. In April 1996, analysts at Yamaichi estimated launch in 2001 and maximum annual sales of over yen 10 billion [215896]. In January 1998, Morgan Stanley Dean Witter predicted Yamanouchi's share of sales to be yen 1 billion in 2001, rising to yen 2 billion in 2002 [315458]. Sales of oprelvekin were US $34 million for Genetics institute in fiscal 2000 while, in July 2001, Credit Suisse First Boston estimated that this figure will be US $30 million and US $34 million in 2001 and 2002, respectively [416883]. PMID:11890354

  15. Attitudes about abortion of women who undergo prenatal diagnosis.

    PubMed

    Kolker, A; Burke, B M; Phillips, J U

    1991-01-01

    Data on 120 women who had experienced either amniocentesis or chorionic villus sampling (CVS) and were attending clinics serving women in the Washington, D.C. area or in the San Diego, California area were analyzed to examine their attitudes toward abortion. In-depth, open-ended interviews were also conducted with 24 currently or recently pregnant women who had also undergone a prenatal diagnostic procedure. All the women wanted the pregnancy in question, and all were more wealthy and better educated than the average woman in the US. Yet women who underwent CVS were better educated (completed college, 89.1% vs. 57.2%) and were more affluent (mean household income, $56,000 vs. $46,000) than those who underwent amniocentesis. Women who had CVS encountered difficulties with obtaining access to CVS and, if it were not for their own initiative, they would have not been able to undergo CVS. This emphasized that, due to more economic, educational, or informational resources, they had greater access to prenatal care. It also verified earlier studies identifying a correlation between adoption of innovations and individual resources. 39.5% of CVS users had earlier elected to terminate a previous pregnancy compared with 22.4% of amniocentesis users. Most respondents supported women's freedom of choice to abort a pregnancy for reasons of endangerment to a mother's health (100% for general population, 98.1% for self), rape or incest (98.2% vs. 97.2%), fetal abnormality (99.1% vs. 100%), low income (86.7% vs. 61.2%), and desire to have no more children (81.3%-88.5% vs. 52.5%-74.5%). Yet few women (19.2% vs. 5.3%) approved of abortion based on sex of the fetus. Even though the respondents were committed to abortion rights, they tended to find it personally hard, if not impossible, to terminate a pregnancy now. They spent considerable emotional and financial resources toward the wanted pregnancy, but, by choosing to undergo prenatal diagnosis, were willing to face the possibility

  16. Genetic therapy for the nervous system

    PubMed Central

    Bowers, William J.; Breakefield, Xandra O.; Sena-Esteves, Miguel

    2011-01-01

    Genetic therapy is undergoing a renaissance with expansion of viral and synthetic vectors, use of oligonucleotides (RNA and DNA) and sequence-targeted regulatory molecules, as well as genetically modified cells, including induced pluripotent stem cells from the patients themselves. Several clinical trials for neurologic syndromes appear quite promising. This review covers genetic strategies to ameliorate neurologic syndromes of different etiologies, including lysosomal storage diseases, Alzheimer's disease and other amyloidopathies, Parkinson's disease, spinal muscular atrophy, amyotrophic lateral sclerosis and brain tumors. This field has been propelled by genetic technologies, including identifying disease genes and disruptive mutations, design of genomic interacting elements to regulate transcription and splicing of specific precursor mRNAs and use of novel non-coding regulatory RNAs. These versatile new tools for manipulation of genetic elements provide the ability to tailor the mode of genetic intervention to specific aspects of a disease state. PMID:21429918

  17. Genetics Home Reference: ovarian cancer

    MedlinePlus

    ... with germline mutations, other inherited and somatic gene changes, together with environmental and lifestyle factors, also influence whether a woman ... area of medical research. In addition to genetic changes, researchers ... many personal and environmental factors that contribute to a woman's risk of ...

  18. Genetic barcodes

    DOEpatents

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  19. Attitudes towards Social Networking and Sharing Behaviors among Consumers of Direct-to-Consumer Personal Genomics

    PubMed Central

    Lee, Sandra Soo-Jin; Vernez, Simone L.; Ormond, K.E.; Granovetter, Mark

    2013-01-01

    Little is known about how consumers of direct-to-consumer personal genetic services share personal genetic risk information. In an age of ubiquitous online networking and rapid development of social networking tools, understanding how consumers share personal genetic risk assessments is critical in the development of appropriate and effective policies. This exploratory study investigates how consumers share personal genetic information and attitudes towards social networking behaviors. Methods: Adult participants aged 23 to 72 years old who purchased direct-to-consumer genetic testing from a personal genomics company were administered a web-based survey regarding their sharing activities and social networking behaviors related to their personal genetic test results. Results: 80 participants completed the survey; of those, 45% shared results on Facebook and 50.9% reported meeting or reconnecting with more than 10 other individuals through the sharing of their personal genetic information. For help interpreting test results, 70.4% turned to Internet websites and online sources, compared to 22.7% who consulted their healthcare providers. Amongst participants, 51.8% reported that they believe the privacy of their personal genetic information would be breached in the future. Conclusion: Consumers actively utilize online social networking tools to help them share and interpret their personal genetic information. These findings suggest a need for careful consideration of policy recommendations in light of the current ambiguity of regulation and oversight of consumer initiated sharing activities. PMID:25562728

  20. Analyses of viscoelastic solid polymers undergoing degradation

    NASA Astrophysics Data System (ADS)

    Davoodi, Bentolhoda; Muliana, Anastasia; Tscharnuter, Daniel; Pinter, Gerald

    2015-08-01

    In this paper we study the three-dimensional response of isotropic viscoelastic solid-like polymers undergoing degradation due to mechanical stimuli. A single integral model is used to describe the time-dependent behaviors of polymers under general loading histories. The degradation is associated to excessive deformations in the polymers as strains continuously increase when the mechanical stimuli are prescribed, and therefore we consider a degradation threshold in terms of strains. The degradation part of the deformations is unrecoverable, and upon removal of the prescribed external stimuli, the accumulation of the degradation strains lead to residual strains. We also systematically present material parameter characterization from available experimental data under various loading histories, i.e., ramp loading with different constant rates, creep-recovery under different stresses, and relaxation under several strains. We analyze viscoelastic-degradation response of two polymers, namely polyethylene and polyoxymethylene under uniaxial tensile tests. Longer duration of loading can lead to increase in the degradation of materials due to the substantial increase in the deformations. The single integral model is capable in predicting the time-dependent responses of the polymers under various loading histories and capturing the recovery and residual strains at different stages of degradations.

  1. Casimir invariants for systems undergoing collective motion

    SciTech Connect

    Bishop, C. Allen; Byrd, Mark S.; Wu Lianao

    2011-06-15

    Dicke states are an important class of states which exhibit collective behavior in many-body systems. They are interesting because (1) the decay rates of these states can be quite different from a set of independently evolving particles and (2) a particular class of these states are decoherence-free or noiseless with respect to a set of errors. These noiseless states, or more generally subsystems, avoid certain types of errors in quantum-information-processing devices. Here we provide a method for determining a set of transformations of these states which leave the states in their subsystems but still enable them to evolve in particular ways. For subsystems of particles undergoing collective motions, these transformations can be calculated by using essentially the same construction which is used to determine the famous Casimir invariants for quantum systems. Such invariants can be used to determine a complete set of commuting observables for a class of Dicke states as well as to identify possible logical operations for decoherence-free-noiseless subsystems. Our method is quite general and provides results for cases where the constituent particles have more than two internal states.

  2. Inducing Tropical Cyclones to Undergo Brownian Motion

    NASA Astrophysics Data System (ADS)

    Hodyss, D.; McLay, J.; Moskaitis, J.; Serra, E.

    2014-12-01

    Stochastic parameterization has become commonplace in numerical weather prediction (NWP) models used for probabilistic prediction. Here, a specific stochastic parameterization will be related to the theory of stochastic differential equations and shown to be affected strongly by the choice of stochastic calculus. From an NWP perspective our focus will be on ameliorating a common trait of the ensemble distributions of tropical cyclone (TC) tracks (or position), namely that they generally contain a bias and an underestimate of the variance. With this trait in mind we present a stochastic track variance inflation parameterization. This parameterization makes use of a properly constructed stochastic advection term that follows a TC and induces its position to undergo Brownian motion. A central characteristic of Brownian motion is that its variance increases with time, which allows for an effective inflation of an ensemble's TC track variance. Using this stochastic parameterization we present a comparison of the behavior of TCs from the perspective of the stochastic calculi of Itô and Stratonovich within an operational NWP model. The central difference between these two perspectives as pertains to TCs is shown to be properly predicted by the stochastic calculus and the Itô correction. In the cases presented here these differences will manifest as overly intense TCs, which, depending on the strength of the forcing, could lead to problems with numerical stability and physical realism.

  3. Fundamentals of Pharmacogenetics in Personalized, Precision Medicine.

    PubMed

    Valdes, Roland; Yin, DeLu Tyler

    2016-09-01

    This article introduces fundamental principles of pharmacogenetics as applied to personalized and precision medicine. Pharmacogenetics establishes relationships between pharmacology and genetics by connecting phenotypes and genotypes in predicting the response of therapeutics in individual patients. We describe differences between precision and personalized medicine and relate principles of pharmacokinetics and pharmacodynamics to applications in laboratory medicine. We also review basic principles of pharmacogenetics, including its evolution, how it enables the practice of personalized therapeutics, and the role of the clinical laboratory. These fundamentals are a segue for understanding specific clinical applications of pharmacogenetics described in subsequent articles in this issue. PMID:27514461

  4. Prevalence and correlates of receiving and sharing high-penetrance cancer genetic test results: Findings from the Health Information National Trends Survey

    PubMed Central

    Taber, Jennifer M.; Chang, Christine Q.; Lam, Tram Kim; Gillanders, Elizabeth M.; Hamilton, Jada G.; Schully, Sheri D.

    2015-01-01

    Background/Aims The aim of this study was to explore the prevalence and correlates of receiving and sharing high-penetrance cancer genetic test results. Methods Participants completed the population-based, cross-sectional 2013 Health Information National Trends Survey. We examined sociodemographic characteristics of participants reporting having had BRCA1/2 or Lynch syndrome genetic testing, and sociodemographic and psychosocial correlates of sharing test results with health professionals and family members. Results Participants who underwent BRCA1/2 or Lynch syndrome genetic testing (n=77; 2.42% of respondents) were more likely to be female and to have a family or personal cancer history than those not undergoing testing. Approximately three-quarters of participants shared results with health professionals and three-quarters with their family; only 4% did not share results with anyone. Participants who shared results with health professionals reported greater optimism, self-efficacy for health management, and trust in information from their doctors. Participants who shared results with family were more likely to be female and to have a personal cancer history, and had greater self-efficacy for health management, perceived less ambiguity in cancer prevention recommendations, and lower cancer prevention fatalism. Conclusions We identified several novel psychosocial correlates of sharing genetic information. Health professionals may use this information to identify patients less likely to share information with at-risk family members. PMID:25427996

  5. Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers

    PubMed Central

    Agrawal, Yash N.; Koboldt, Daniel C.; Kanchi, Krishna L.; Herschkowitz, Jason I.; Mardis, Elaine R.; Rosen, Jeffrey M.; Perou, Charles M.

    2016-01-01

    ABSTRACT Targeted therapies against basal-like breast tumors, which are typically ‘triple-negative breast cancers (TNBCs)’, remain an important unmet clinical need. Somatic TP53 mutations are the most common genetic event in basal-like breast tumors and TNBC. To identify additional drivers and possible drug targets of this subtype, a comparative study between human and murine tumors was performed by utilizing a murine Trp53-null mammary transplant tumor model. We show that two subsets of murine Trp53-null mammary transplant tumors resemble aspects of the human basal-like subtype. DNA-microarray, whole-genome and exome-based sequencing approaches were used to interrogate the secondary genetic aberrations of these tumors, which were then compared to human basal-like tumors to identify conserved somatic genetic features. DNA copy-number variation produced the largest number of conserved candidate personalized drug targets. These candidates were filtered using a DNA-RNA Pearson correlation cut-off and a requirement that the gene was deemed essential in at least 5% of human breast cancer cell lines from an RNA-mediated interference screen database. Five potential personalized drug target genes, which were spontaneously amplified loci in both murine and human basal-like tumors, were identified: Cul4a, Lamp1, Met, Pnpla6 and Tubgcp3. As a proof of concept, inhibition of Met using crizotinib caused Met-amplified murine tumors to initially undergo complete regression. This study identifies Met as a promising drug target in a subset of murine Trp53-null tumors, thus identifying a potential shared driver with a subset of human basal-like breast cancers. Our results also highlight the importance of comparative genomic studies for discovering personalized drug targets and for providing a preclinical model for further investigations of key tumor signaling pathways. PMID:27149990

  6. The psychological profile and affective response of women diagnosed with unexplained infertility undergoing in vitro fertilization.

    PubMed

    Aisenberg Romano, Gabi; Ravid, Hila; Zaig, Inbar; Schreiber, Shaul; Azem, Foad; Shachar, Izhak; Bloch, Miki

    2012-12-01

    It has been hypothesized that unexplained infertility may be related to specific personality and coping styles. We studied two groups of women with explained infertility (EIF, n = 63) and unexplained infertility (UIF, n = 42) undergoing an in vitro fertilization (IVF) cycle. Women completed personality and coping style questionnaires prior to the onset of the cycle, and state depression and anxiety scales before and at two additional time points during the cycle. Almost no in-between group differences were found at any of the measured time points in regards to the Minnesota Multiphasic Personality Inventory-2 validity and clinical scales, Illness Cognitions and Life Orientation Test, or for the situational measures. The few differences found suggest a more adaptive, better coping, and functioning defensive system in women with EIF. In conclusion, we did not find any clinically significant personality differences or differences in depression or anxiety levels between women with EIF and UIF during an IVF cycle. Minor differences found are probably a reaction to the ambiguous medical situation with its uncertain prognosis, amplifying certain traits which are not specific to one psychological structure but rather to the common experience shared by the group. The results of this study do not support the possibility that personality traits are involved in the pathophysiology of unexplained infertility. PMID:22847827

  7. Dependent personality disorder

    MedlinePlus

    Dependent personality disorder is a mental condition in which people depend too much on others to meet their emotional ... Causes of dependent personality disorder are unknown. The disorder usually ... It is one of the most common personality disorders and ...

  8. Narcissistic personality disorder

    MedlinePlus

    Personality disorder - borderline; Narcissism ... A person with narcissistic personality disorder may: React to criticism with rage, shame, or humiliation Take advantage of other people to achieve his or her ...

  9. Narcissistic personality disorder

    MedlinePlus

    Personality disorder - borderline; Narcissism ... A person with narcissistic personality disorder may: React to criticism with rage, shame, or humiliation Take advantage of other people to achieve his or her own ...

  10. Sleep Disorders in ESRD Patients Undergoing Hemodialysis.

    PubMed

    Abassi, Mohammad Reza; Safavi, Amin; Haghverdi, Masoumeh; Saedi, Babak

    2016-03-01

    Kidney failure affects different aspects of normal life. Among different manifestations, sleep problem can be considered as a common complaint of ESRD (End Stage Renal Disease) patients. In this study, we aimed to investigate the interrelationship between sleep disorders in ESRD patients and their characteristics. Through a cross-sectional study (2010-2011), 88 ESRD patients undergoing maintenance hemodialysis thrice weekly were recruited to enter the study. We used a self-administered questionnaire into which the data were reflected. The patients selected their specific sleep disorders using a nine-item scale while the Epworth Sleepiness Scale (ESS) determined both the presence and severity of sleep disorders. The data was finally analyzed with their baseline characteristics, dialysis characteristics, medication/stimulants use, and clinical and biochemical parameters. Over 95% of the patients had, at least, one specific sleep disorder while the ESS revealed 36.36% of patients as normal, 59.09% as having mild sleep disorders, and 4.54% as having moderate to severe sleep disorders. Sleep disorders were significantly correlated with older ages (P=0.035), dialysis dose (P=0.001), blood creatinine levels (P=0.037), upper airways obstruction (P=0.035), hepatomegaly (P=0.006), hepatic failure (P=0.001), higher blood TSH levels (P=0.039), history of hypothyroidism (P=0.005), and the use of levodopa (P=0.004), anti-hypertensive medications (P=0.006), benzodiazepines (P=0.006), Eprex (Erythropoietin) (P=0.001), Venofer (Iron Sucrose Injection) (P=0.013), and phosphate-binders agents (P=0.018). Sleep disorders are common findings among ESRD patients and seem to be a more complicated issue than a simple accumulation of the wastes products in the body. Whatever the causes of sleep disorders are, disorder-specific treatments should be considered. PMID:27107522

  11. Hearing Preservation Among Patients Undergoing Cochlear Implantation

    PubMed Central

    Van Abel, Kathryn M.; Dunn, Camille C.; Sladen, Douglas P.; Oleson, Jacob J.; Beatty, Charles W.; Neff, Brian A.; Hansen, Marlan; Gantz, Bruce J.; Driscoll, Colin L. W.

    2015-01-01

    Introduction Despite successful preservation of low-frequency hearing in patients undergoing cochlear implantation (CI) with shorter electrode lengths, there is still controversy regarding which electrodes maximize hearing preservation (HP). The thin straight electrode array (TSEA) has been suggested as a full cochlear coverage option for HP. However, very little is known regarding its HP potential. Methods A retrospective review was performed at two tertiary academic medical centers, reviewing the electronic records for 52 patients (mean, 58.2 yr; range, 11–85 yr) implanted with the Cochlear Nucleus CI422 Slim Straight (Centennial, CO, USA) electrode array, referred to herein as the thin straight electrode array or TSEA. All patients had a preoperative low-frequency pure-tone average (LFPTA) of 85 dB HL or less. Hearing thresholds were measured at initial activation (t1) and 6 months after activation (t2). HP was assessed by evaluating functional HP using a cutoff level of 85 dB HL PTA. Results At t1, 54% of the subjects had functional hearing; 33% of these subjects had an LFPTA between 71 and 85 dB HL, and 17% had an LFPTA between 56 and 70 dB HL. At t2, 47% of the patients had functional hearing, with 31% having an LFPTA between 71 and 85 dB HL. Discussion Preliminary research suggests that the TSEA has the potential to preserve functional hearing in 54% of patients at t1. However, 22% (n = 6) of the patients who had functional hearing at t1 (n = 28) lost their hearing between t1 and t2. Further studies are needed to evaluate factors that influence HP with the TSEA electrode and determine the speech perception benefits using electric and acoustic hearing over electric alone. PMID:25575373

  12. Genetic Engineering

    ERIC Educational Resources Information Center

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  13. Genetic competencies essential for health care professionals in primary care.

    PubMed

    Engstrom, Janet L; Sefton, Marlene G S; Matheson, Jolie Kim; Healy, Kristine M

    2005-01-01

    The completion of the sequencing of the human genome in 2003 signaled the onset of the genomic era in health care. The knowledge gleaned from the Human Genome Project has led to the understanding that every health problem has a genetic component and that clinicians should include the application of genetic information in all aspects of health care. This article describes the genetic competencies essential for all health care professionals in primary care. Health care professionals should augment their current practice by obtaining a multigenerational genetic family history for each patient, assessing all patients for potentially heritable conditions, providing referrals to genetic health professionals as needed, offering genetic testing when indicated, and considering an individual's genetic makeup in the selection of medications and treatments for that person. Finally, all health care professionals ought to be prepared to address the complex personal, cultural, theological, ethical, legal, and social issues associated with genetic testing and other genetic issues commonly encountered in clinical practice. PMID:15894994

  14. Genetic counseling.

    PubMed

    Fraser, F C

    1974-09-01

    A workshop was sponsored by the National Genetics Foundation to evaluate and make recommendations about the status of genetic counseling, its goals, nature, achievements, and needs. The process of genetic workup and counseling is divided into 5 stages: validation of the diagnosis; obtaining family history; estimation of the risk of recurrence; helping the family make a decision and take appropriate action; and extending counseling to other members of the family. Counseling can be directed at individuals or at special groups with the potential of carrying such diseases as sickle cell amenia or Tay-Sachs. No consensus exists on an optimal counseling approach. Genetic counseling is regarded as a team effort, requiring, in addition to the counselor, laboratory facilities and a variety of specialists. The source of payment for genetic counseling services is regarded as a problem of increasing concern. Generally, the fee paid rarely covers the cost of the many procedures and it is suggested that the cost, like that of other public health services, should be subsidized by the state. Considerable argument exists over whether a genetic counselor must have a M.D. degree or whether a Ph. D. in medical genetics is suitable enough. The quality of much genetic counseling, which is often done in the office of doctors unskilled in the field, would be increased if better training in genetics were offered to medical students and if physicians were informed of the existence of counseling centers. Further, there is a growing feeling that some sort of accreditation of genetic counselors is desirable. PMID:4609197

  15. Personality disorder diagnosis

    PubMed Central

    WIDIGER, THOMAS A

    2003-01-01

    Every person has a characteristic manner of thinking, feeling, and relating to others. Some of these personality traits can be so dysfunctional as to warrant a diagnosis of personality disorder. The World Health Organization's International Classification of Diseases (ICD- 10) includes ten personality disorder diagnoses. Three issues of particular importance for the diagnosis of personality disorders are their differentiation from other mental disorders, from general personality functioning, and from each other. Each of these issues is discussed in turn, and it is suggested that personality disorders are more accurately and effectively diagnosed as maladaptive variants of common personality traits. PMID:16946918

  16. Personalized cancer care conference.

    PubMed

    Zänker, Kurt S; Mihich, Enrico; Huber, Hans-Peter; Borresen-Dale, Anne-Lise

    2013-01-01

    The Oslo University Hospital (Norway), the K.G. Jebsen Centre for Breast Cancer Research (Norway), The Radiumhospital Foundation (Norway) and the Fritz-Bender-Foundation (Germany) designed under the conference chairmen (E. Mihich, K.S. Zänker, A.L. Borresen-Dale) and advisory committee (A. Borg, Z. Szallasi, O. Kallioniemi, H.P. Huber) a program at the cutting edge of "PERSONALIZED CANCER CARE: Risk prediction, early diagnosis, progression and therapy resistance." The conference was held in Oslo from September 7 to 9, 2012 and the science-based presentations concerned six scientific areas: (1) Genetic profiling of patients, prediction of risk, late side effects; (2) Molecular profiling of tumors and metastases; (3) Tumor-host microenvironment interaction and metabolism; (4) Targeted therapy; (5) Translation and (6) Informed consent, ethical challenges and communication. Two satellite workshops on (i) Ion Ampliseq-a novel tool for large scale mutation detection; and (ii) Multiplex RNA ISH and tissue homogenate assays for cancer biomarker validation were additionally organized. The report concludes that individual risk prediction in carcinogenesis and/or metastatogenesis based on polygenic profiling may be useful for intervention strategies for health care and therapy planning in the future. To detect distinct and overlapping DNA sequence alterations in tumor samples and adjacent normal tissues, including point mutations, small insertions or deletions, copy number changes and chromosomal rearrangements will eventually make it possible to design personalized management plans for individualized patients. However, large individualized datasets need a new approach in bio-information technology to reduce this enormous data dimensionally to simply working hypotheses about health and disease for each individual. PMID:25562519

  17. The genetics of neuroticism and human values

    PubMed Central

    Lancaster, Thomas M.; Maio, Gregory R.; Linden, David E. J.

    2016-01-01

    Human values and personality have been shown to share genetic variance in twin studies. However, there is a lack of evidence about the genetic components of this association. This study examined the interplay between genes, values and personality in the case of neuroticism, because polygenic scores were available for this personality trait. First, we replicated prior evidence of a positive association between the polygenic neuroticism score (PNS) and neuroticism. Second, we found that the PNS was significantly associated with the whole human value space in a sinusoidal waveform that was consistent with Schwartz's circular model of human values. These results suggest that it is useful to consider human values in the analyses of genetic contributions to personality traits. They also pave the way for an investigation of the biological mechanisms contributing to human value orientations. PMID:26915771

  18. Property rights in genetic information.

    PubMed

    Spinello, Richard A

    2004-01-01

    The primary theme of this paper is the normative case against ownership of one's genetic information along with the source of that information (usually human tissues samples). The argument presented here against such "upstream" property rights is based primarily on utilitarian grounds. This issue has new salience thanks to the Human Genome Project and "bio-prospecting" initiatives based on the aggregation of genetic information, such as the one being managed by deCODE Genetics in Iceland. The rationale for ownership is twofold: ownership will protect the basic human rights of privacy and autonomy and it will enable the data subjects to share in the tangible benefits of the genetic research. Proponents of this viewpoint often cite the principle of genetic exceptionalism, which asserts that genetic information needs a higher level of protection than other kinds of personal information such as financial data. We argue, however, that the recognition of such ownership rights would lead to inefficiency along with the disutility of genetic discoveries. Biomedical research will be hampered if property rights in genes and genetic material are too extensive. We contend that other mechanisms such as informed consent and strict confidentiality rules can accomplish the same result as a property right without the liabilities of an exclusive entitlement. PMID:16969959

  19. The Genetic Privacy Act and commentary

    SciTech Connect

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. The DNA molecule holds an extensive amount of currently indecipherable information. The major goal of the Human Genome Project is to decipher this code so that the information it contains is accessible. The privacy question is, accessible to whom? The highly personal nature of the information contained in DNA can be illustrated by thinking of DNA as containing an individual`s {open_quotes}future diary.{close_quotes} A diary is perhaps the most personal and private document a person can create. It contains a person`s innermost thoughts and perceptions, and is usually hidden and locked to assure its secrecy. Diaries describe the past. The information in one`s genetic code can be thought of as a coded probabilistic future diary because it describes an important part of a unique and personal future. This document presents an introduction to the proposal for federal legislation `the Genetic Privacy Act`; a copy of the proposed act; and comment.

  20. Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    The rapid decline of sequencing costs brings hope that personal genome sequencing will become a common feature of medical practice. This series of three reviews aim to help non-geneticist clinicians to jump into the fast-moving field of personalized genetic medicine. In the first two articles, we covered the fundamental concepts of molecular genetics and the methodologies used in genetic epidemiology. In this third article, we discuss the evolution of personalized medicine and illustrate the most recent success in the fields of Mendelian and complex human diseases. We also address the challenges that currently limit the use of personalized medicine to its full potential. PMID:25598768

  1. [The decision to undergo tubal ligation].

    PubMed

    Fontaine, J G

    1984-07-01

    approve the definitive contraception that her past deprivation caused her to desire, even though it would prevent her in the future from fulfilling herself through motherhood. A review of the literature from the past decade on psychological aspects of sterilization indicates that sterilization has no therapeutic effect in the sense of making psychiatric problems disappear. A psychological evaluation should be sought if the candidate is young, feels ambivalent about the sterilization, or feels obligated to undergo sterilization for some reason. PMID:6485177

  2. Affective temperament and personal identity.

    PubMed

    Stanghellini, Giovanni; Rosfort, René

    2010-10-01

    The complex relationship between temperament and personal identity, and between these and mental disorders, is of critical interest to both philosophy and psychopathology. More than other living creatures, human beings are constituted and characterized by the interplay of their genotype and phenotype. There appears to be an explanatory gap between the almost perfect genetic identity and the individual differences among humans. One reason for this gap is that a human being is a person besides a physiological organism. We propose an outline of a theoretical model that might somewhat mitigate the explanatory discrepancies between physiological mechanisms and individual human emotional experience and behaviour. Arguing for the pervasive nature of human affectivity, i.e., for the assumption that human consciousness and behaviour is characterised by being permeated by affectivity; to envisage the dynamics of emotional experience, we make use of a three-levelled model of human personal identity that differentiates between factors that are simultaneously at work in the constitution of the individual human person: 1) core emotions, 2) affective temperament types/affective character traits, and 3) personhood. These levels are investigated separately in order to respect the methodological diversity among them (neuroscience, psychopathology, and philosophy), but they are eventually brought together in a hermeneutical account of human personhood. PMID:20236706

  3. International Students and Their Experiences of Personal Development Planning

    ERIC Educational Resources Information Center

    Baker, Kate L.; Perkins, Joy; Comber, Darren P. M.

    2014-01-01

    Taught postgraduate students are a unique group, undergoing a short, intensive period of study. Many taught postgraduate students are international, engaging for the first time with new learning approaches, including Personal Development Planning (PDP). This article provides analysis of the views of international taught postgraduates about the…

  4. Re-Examining the Gene in Personalized Genomics

    ERIC Educational Resources Information Center

    Bartol, Jordan

    2013-01-01

    Personalized genomics companies (PG; also called "direct-to-consumer genetics") are businesses marketing genetic testing to consumers over the Internet. While much has been written about these new businesses, little attention has been given to their roles in science communication. This paper provides an analysis of the gene concept…

  5. MicroRNA polymorphisms: a giant leap towards personalized medicine

    PubMed Central

    Mishra, Prasun J

    2010-01-01

    “An individual’s genetic inheritance of microRNA polymorphisms associated with disease progression, prognosis and treatment holds the key to create safer and more personalized drugs and can be a giant leap towards personalized medicine.” PMID:20428464

  6. Discussion Note. Amerind Personal Pronouns: A Reply to Campbell.

    ERIC Educational Resources Information Center

    Nichols, Johanna; Peterson, David A.

    1998-01-01

    Responds to a commentary on a 1996 paper that surveyed pronominal systems with first person n and second person m and showed that the n:m system is insufficient to prove genetic relatedness among languages exhibiting it, suggesting that the commentary was based on misunderstandings. The response addresses the commentary's discussion of study…

  7. Causal Attribution and Personal Responsibility for Health and Disease.

    ERIC Educational Resources Information Center

    Health Education (Washington D.C.), 1983

    1983-01-01

    Health educators may be expecting the public to accept too much personal responsibility for disease. Genetic, environmental, and other factors may be as important as health-promoting behavior in avoiding disease. If health educators overstate the role of personal responsibility for health, they may lose credibility with the public. (PP)

  8. [Personalized medicine in rheumatology].

    PubMed

    Szekanecz, Zoltán

    2013-03-31

    In rheumatology, especially in arthritides, early diagnosis and aggressive therapy may open up new dimensions of expectations, such as improvement of pain, prevention of structural, functional damage and better quality of life. Targeted (biological) therapy has brought new horizons in rheumatology. As it is a rather expensive treatment modality, it has been urgent to develop tools suitable for the prediction of therapeutic responses. Several clinical, immunological and genetic biomarkers have been established for this purpose. Among clinical markers, male sex, younger age, lower or even higher disease activity at baseline, combination treatment and quitting smoking may lead to better treatment outcome. Immunological biomarkers, such as C-reactive protein, seropositivity, peripheral blood or synovial cellular content have been associated with therapeutic responses. Finally, numerous genes or gene signatures may also predict the efficacy or safety of immunosuppressive drugs. Although sometimes there have been only few studies conducted that led to some controversy, some biomarkers have also been validated. This may lead us to optimism in terms of wider acceptance of personalized medicine in rheumatology. PMID:23524232

  9. Managing Your Personal Brand

    ERIC Educational Resources Information Center

    Gander, Michelle

    2014-01-01

    Everyone has a personal brand. To ensure success at work you need to manage your personal brand which is made up of your tangible and intangible attributes. This paper reviews the literature around personal branding, looks at some of the attributes and discusses ways you can reflect and begin to build your personal brand in a higher education…

  10. Advancing Pharmacogenomics Education in the Core PharmD Curriculum through Student Personal Genomic Testing

    PubMed Central

    Adams, Solomon M.; Anderson, Kacey B.; Coons, James C.; Smith, Randall B.; Meyer, Susan M.; Parker, Lisa S.

    2016-01-01

    Objective. To develop, implement, and evaluate “Test2Learn” a program to enhance pharmacogenomics education through the use of personal genomic testing (PGT) and real genetic data. Design. One hundred twenty-two second-year doctor of pharmacy (PharmD) students in a required course were offered PGT as part of a larger program approach to teach pharmacogenomics within a robust ethical framework. The program added novel learning objectives, lecture materials, analysis tools, and exercises using individual-level and population-level genetic data. Outcomes were assessed with objective measures and pre/post survey instruments. Assessment. One hundred students (82%) underwent PGT. Knowledge significantly improved on multiple assessments. Genotyped students reported a greater increase in confidence in understanding test results by the end of the course. Similarly, undergoing PGT improved student’s self-perceived ability to empathize with patients compared to those not genotyped. Most students (71%) reported feeling PGT was an important part of the course, and 60% reported they had a better understanding of pharmacogenomics specifically because of the opportunity. Conclusion. Implementation of PGT in the core pharmacy curriculum was feasible, well-received, and enhanced student learning of pharmacogenomics. PMID:26941429

  11. Advancing Pharmacogenomics Education in the Core PharmD Curriculum through Student Personal Genomic Testing.

    PubMed

    Adams, Solomon M; Anderson, Kacey B; Coons, James C; Smith, Randall B; Meyer, Susan M; Parker, Lisa S; Empey, Philip E

    2016-02-25

    Objective. To develop, implement, and evaluate "Test2Learn" a program to enhance pharmacogenomics education through the use of personal genomic testing (PGT) and real genetic data. Design. One hundred twenty-two second-year doctor of pharmacy (PharmD) students in a required course were offered PGT as part of a larger program approach to teach pharmacogenomics within a robust ethical framework. The program added novel learning objectives, lecture materials, analysis tools, and exercises using individual-level and population-level genetic data. Outcomes were assessed with objective measures and pre/post survey instruments. Assessment. One hundred students (82%) underwent PGT. Knowledge significantly improved on multiple assessments. Genotyped students reported a greater increase in confidence in understanding test results by the end of the course. Similarly, undergoing PGT improved student's self-perceived ability to empathize with patients compared to those not genotyped. Most students (71%) reported feeling PGT was an important part of the course, and 60% reported they had a better understanding of pharmacogenomics specifically because of the opportunity. Conclusion. Implementation of PGT in the core pharmacy curriculum was feasible, well-received, and enhanced student learning of pharmacogenomics. PMID:26941429

  12. Personalized Medicine Approaches in Prostate Cancer Employing Patient Derived 3D Organoids and Humanized Mice

    PubMed Central

    Bartucci, Monica; Ferrari, Anna C.; Kim, Isaac Yi; Ploss, Alexander; Yarmush, Martin; Sabaawy, Hatem E.

    2016-01-01

    Prostate cancer (PCa) is the most common malignancy and the second most common cause of cancer death in Western men. Despite its prevalence, PCa has proven very difficult to propagate in vitro. PCa represents a complex organ-like multicellular structure maintained by the dynamic interaction of tumoral cells with parenchymal stroma, endothelial and immune cells, and components of the extracellular matrix (ECM). The lack of PCa models that recapitulate this intricate system has hampered progress toward understanding disease progression and lackluster therapeutic responses. Tissue slices, monolayer cultures and genetically engineered mouse models (GEMM) fail to mimic the complexities of the PCa microenvironment or reproduce the diverse mechanisms of therapy resistance. Moreover, patient derived xenografts (PDXs) are expensive, time consuming, difficult to establish for prostate cancer, lack immune cell-tumor regulation, and often tumors undergo selective engraftments. Here, we describe an interdisciplinary approach using primary PCa and tumor initiating cells (TICs), three-dimensional (3D) tissue engineering, genetic and morphometric profiling, and humanized mice to generate patient-derived organoids for examining personalized therapeutic responses in vitro and in mice co-engrafted with a human immune system (HIS), employing adaptive T-cell- and chimeric antigen receptor- (CAR) immunotherapy. The development of patient specific therapies targeting the vulnerabilities of cancer, when combined with antiproliferative and immunotherapy approaches could help to achieve the full transformative power of cancer precision medicine. PMID:27446916

  13. Personalized Medicine Approaches in Prostate Cancer Employing Patient Derived 3D Organoids and Humanized Mice.

    PubMed

    Bartucci, Monica; Ferrari, Anna C; Kim, Isaac Yi; Ploss, Alexander; Yarmush, Martin; Sabaawy, Hatem E

    2016-01-01

    Prostate cancer (PCa) is the most common malignancy and the second most common cause of cancer death in Western men. Despite its prevalence, PCa has proven very difficult to propagate in vitro. PCa represents a complex organ-like multicellular structure maintained by the dynamic interaction of tumoral cells with parenchymal stroma, endothelial and immune cells, and components of the extracellular matrix (ECM). The lack of PCa models that recapitulate this intricate system has hampered progress toward understanding disease progression and lackluster therapeutic responses. Tissue slices, monolayer cultures and genetically engineered mouse models (GEMM) fail to mimic the complexities of the PCa microenvironment or reproduce the diverse mechanisms of therapy resistance. Moreover, patient derived xenografts (PDXs) are expensive, time consuming, difficult to establish for prostate cancer, lack immune cell-tumor regulation, and often tumors undergo selective engraftments. Here, we describe an interdisciplinary approach using primary PCa and tumor initiating cells (TICs), three-dimensional (3D) tissue engineering, genetic and morphometric profiling, and humanized mice to generate patient-derived organoids for examining personalized therapeutic responses in vitro and in mice co-engrafted with a human immune system (HIS), employing adaptive T-cell- and chimeric antigen receptor- (CAR) immunotherapy. The development of patient specific therapies targeting the vulnerabilities of cancer, when combined with antiproliferative and immunotherapy approaches could help to achieve the full transformative power of cancer precision medicine. PMID:27446916

  14. Genetic Discrimination

    MedlinePlus

    ... Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care ... genetic discrimination. April 25, 2007, Statement of Administration Policy, Office of Management and Budget Official Statement from the Office of ...

  15. RNA genetics

    SciTech Connect

    Domingo, E. ); Holland, J.J. . Dept. of Biology); Ahlquist, P. . Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: Retroviruses, Viroids, and RNA recombination, Volume 2. Topics covered include: Replication of retrovirus genomes, Hepatitis B virus replication, and Evolution of RNA viruses.

  16. Arthropod Genetics.

    ERIC Educational Resources Information Center

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  17. Personality and dementia.

    PubMed

    Cipriani, Gabriele; Borin, Gemma; Del Debbio, Alessandro; Di Fiorino, Mario

    2015-03-01

    Personality describes persistent human behavioral responses to broad classes of environmental stimuli. Change in personality may be an early sign of dementia. Our goal was to review scientific literature on the association between personality and dementia. Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published since 1980. Search terms used included personality, dementia, Alzheimer's disease, frontotemporal dementia, dementia with Lewy bodies. People with dementia commonly exhibit changes in personality that sometimes precede the other early clinical manifestations of the condition, such as cognitive impairment. Premorbid personality might be a determining factor so that caricature or exaggeration of original personality emerges as dementia progresses. Although it is generally accepted that these personality changes reflect the impact of progressive brain damage, there are several possible patterns of personality alterations with dementia. Early identification of personality modifications might assist with the timely diagnosis of dementia. PMID:25714255

  18. Genetics of autoimmune diseases: insights from population genetics

    PubMed Central

    Ramos, Paula S; Shedlock, Andrew M; Langefeld, Carl D

    2015-01-01

    Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) are a family of complex heterogeneous disorders with similar underlying mechanisms characterized by immune responses against self. Collectively, ADs are common, exhibit gender and ethnic disparities, and increasing incidence. As natural selection is an important influence on human genetic variation, and immune function genes are enriched for signals of positive selection, it is thought that the prevalence of AD risk alleles seen in different population is partially the result of differing selective pressures (for example, due to pathogens). With the advent of high-throughput technologies, new analytical methodologies and large-scale projects, evidence for the role of natural selection in contributing to the heritable component of ADs keeps growing. This review summarizes the genetic regions associated with susceptibility to different ADs and concomitant evidence for selection, including known agents of selection exerting selective pressure in these regions. Examples of specific adaptive variants with phenotypic effects are included as an evidence of natural selection increasing AD susceptibility. Many of the complexities of gene effects in different ADs can be explained by population genetics phenomena. Integrating AD susceptibility studies with population genetics to investigate how natural selection has contributed to genetic variation that influences disease risk will help to identify functional variants and elucidate biological mechanisms. As such, the study of population genetics in human population holds untapped potential for elucidating the genetic causes of human disease and more rapidly focusing to personalized medicine. PMID:26223182

  19. Genetic Screening

    PubMed Central

    Burke, Wylie; Tarini, Beth; Press, Nancy A.; Evans, James P.

    2011-01-01

    Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element—information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach. PMID:21709145

  20. 14 CFR 204.5 - Certificated and commuter air carriers undergoing or proposing to undergo substantial change in...

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... operations, management, or ownership, including changes that may affect the air carrier's citizenship, shall... undergoing or proposing to undergo substantial change in operations, ownership, or management. 204.5 Section..., ownership, or management. (a) A certificated or commuter air carrier proposing a substantial change...

  1. Routes for breaching and protecting genetic privacy

    PubMed Central

    Erlich, Yaniv; Narayanan, Arvind

    2014-01-01

    We are entering an era of ubiquitous genetic information for research, clinical care and personal curiosity. Sharing these datasets is vital for progress in biomedical research. However, one growing concern is the ability to protect the genetic privacy of the data originators. Here, we present an overview of genetic privacy breaching strategies. We outline the principles of each technique, point to the underlying assumptions, and assess its technological complexity and maturation. We then review potential mitigation methods for privacy-preserving dissemination of sensitive data and highlight different cases that are relevant to genetic applications. PMID:24805122

  2. [Genetic testing and counseling for familial tumor syndromes].

    PubMed

    Katai, Miyuki; Sakurai, Akihiro; Fukushima, Yoshimitsu

    2002-04-01

    Recent developments in molecular biology have increased our understanding of the genetics of familial tumor syndromes. Isolation of the responsible genes has made it possible to identify gene carriers before they manifest clinical symptoms, which enables early detection of disease and at times prophylactic surgery. Indications for genetic testing of susceptible family members, however, should be carefully considered. Genetic counseling must be provided to clients before genetic tests. Patients should be provided with the latest knowledge on the disease and appropriately informed of the benefits and possible problems associated with genetic test, as such information is essential for clients to decide whether they will undergo such tests. Genetic medicine is not sufficiently available at present in Japan. Establishment of genetic services that deal with genetic counseling, family support and ethical, social and legal issues is strongly desired. PMID:11977532

  3. Radiation Dose Estimation for Pediatric Patients Undergoing Cardiac Catheterization

    NASA Astrophysics Data System (ADS)

    Wang, Chu

    Patients undergoing cardiac catheterization are potentially at risk of radiation-induced health effects from the interventional fluoroscopic X-ray imaging used throughout the clinical procedure. The amount of radiation exposure is highly dependent on the complexity of the procedure and the level of optimization in imaging parameters applied by the clinician. For cardiac catheterization, patient radiation dosimetry, for key organs as well as whole-body effective, is challenging due to the lack of fixed imaging protocols, unlike other common X-ray based imaging modalities. Pediatric patients are at a greater risk compared to adults due to their greater cellular radio-sensitivities as well as longer remaining life-expectancy following the radiation exposure. In terms of radiation dosimetry, they are often more challenging due to greater variation in body size, which often triggers a wider range of imaging parameters in modern imaging systems with automatic dose rate modulation. The overall objective of this dissertation was to develop a comprehensive method of radiation dose estimation for pediatric patients undergoing cardiac catheterization. In this dissertation, the research is divided into two main parts: the Physics Component and the Clinical Component. A proof-of-principle study focused on two patient age groups (Newborn and Five-year-old), one popular biplane imaging system, and the clinical practice of two pediatric cardiologists at one large academic medical center. The Physics Component includes experiments relevant to the physical measurement of patient organ dose using high-sensitivity MOSFET dosimeters placed in anthropomorphic pediatric phantoms. First, the three-dimensional angular dependence of MOSFET detectors in scatter medium under fluoroscopic irradiation was characterized. A custom-made spherical scatter phantom was used to measure response variations in three-dimensional angular orientations. The results were to be used as angular dependence

  4. Genetic screening

    PubMed Central

    Andermann, Anne; Blancquaert, Ingeborg

    2010-01-01

    Abstract OBJECTIVE To provide a primer for primary care professionals who are increasingly called upon to discuss the growing number of genetic screening services available and to help patients make informed decisions about whether to participate in genetic screening, how to interpret results, and which interventions are most appropriate. QUALITY OF EVIDENCE As part of a larger research program, a wide literature relating to genetic screening was reviewed. PubMed and Internet searches were conducted using broad search terms. Effort was also made to identify the gray literature. MAIN MESSAGE Genetic screening is a type of public health program that is systematically offered to a specified population of asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Ensuring an added benefit from screening, as compared with standard clinical care, and preventing unintended harms, such as undue anxiety or stigmatization, depends on the design and implementation of screening programs, including the recruitment methods, education and counseling provided, timing of screening, predictive value of tests, interventions available, and presence of oversight mechanisms and safeguards. There is therefore growing apprehension that economic interests might lead to a market-driven approach to introducing and expanding screening before program effectiveness, acceptability, and feasibility have been demonstrated. As with any medical intervention, there is a moral imperative for genetic screening to do more good than harm, not only from the perspective of individuals and families, but also for the target population and society as a whole. CONCLUSION Primary care professionals have an important role to play in helping their patients navigate the rapidly changing terrain of genetic screening services by informing them about the benefits and risks of new genetic and genomic technologies and empowering them to

  5. Factors Affecting Patients Undergoing Cosmetic Surgery in Bushehr, Southern Iran

    PubMed Central

    Salehahmadi, Zeinab; Rafie, Seyyed Reza

    2012-01-01

    BACKGROUND Although, there have been extensive research on the motivations driving patient to undergo cosmetic procedures, there is still a big question mark on the persuasive factors which may lead individuals to undergo cosmetic surgery. The present study evaluated various factors affecting patients undergoing cosmetic surgery in Bushehr, Southern Iran. METHODS From 24th March 2011 to 24th March 2012, eighty-one women and 20 men who wished to be operated in Fatemeh Zahra Hospital in Bushehr, Southern Iran and Pars Clinic, Iran were enrolled by a simple random sampling method. They all completed a questionnaire to consider reasons for cosmetic procedures. The collected data were statistically analyzed. RESULTS Demographical, sociological and psychological factors such as age, gender, educational level, marital status, media, perceived risks, output quality, depression and self-improvement were determined as factors affecting tendency of individuals to undergo cosmetic surgery in this region. Trend to undergo cosmetic surgery was more prevalent in educational below bachelor degree, married subjects, women population of 30-45 years age group. Education level, age, marital status and gender were respectively the influential factors in deciding to undergo cosmetic surgery. Among the socio-psychological factors, self-improvement, finding a better job opportunity, rivalry, media, health status as well as depression were the most persuasive factors to encourage people to undergo cosmetic surgery too. Cost risk was not important for our samples in decision making to undergo cosmetic surgery. CONCLUSION We need to fully understand the way in which the combination of demographic, social and psychological factors influence decision-making to undergo cosmetic surgery. PMID:25734051

  6. Specific Genetic Disorders

    MedlinePlus

    ... of Genetic Terms Definitions for genetic terms Specific Genetic Disorders Many human diseases have a genetic component. ... Condition in an Adult The Undiagnosed Diseases Program Genetic Disorders Achondroplasia Alpha-1 Antitrypsin Deficiency Antiphospholipid Syndrome ...

  7. Effect of gradual computerized angioplasty on outcomes of patients undergoing coronary stenting.

    PubMed

    Leibowitz, David; Lotan, Chaim; Katz, Iony; Nassar, Hisham; Boguslavsky, Larissa; Mosseri, Morris; Jabara, Refat; Varshitzsky, Boris; Danenberg, Haim; Weiss, A Teddy

    2009-07-15

    Mechanical trauma caused by percutaneous coronary intervention is a major factor contributing to subsequent cardiac events, restenosis, and the need for target lesion revascularization (TLR). To minimize this trauma, we developed a Computerized Angioplasty Pressure Sensor and Inflator Device (CAPSID) for gradual inflation. The objective of the present prospective randomized study was to examine whether the use of this novel device reduced TLR, as well as cardiac events, in patients undergoing stenting. Patients undergoing coronary stenting were eligible and randomized to receive CAPSID or standard manual percutaneous coronary intervention. In the CAPSID group, slow, gradual balloon inflation was performed using a personal computer. Patients with acute ST-elevation myocardial infarction or the need for percutaneous coronary intervention for total occlusions, left main disease, and vein grafts were excluded. Clinical follow-up for major adverse cardiac events, including death, acute myocardial infarction, and TLR, was performed at 12 months. A total of 310 patients were enrolled in the study. No significant differences were found in the clinical characteristics between the CAPSID and control groups. At 1 year of follow-up, the CAPSID group had had a significantly lower rate of major adverse cardiac events (8% vs 18%, p <0.01) driven by significantly lower rates of acute myocardial infarction (1% vs 7%, p <0.01) and TLR (5% vs 12%, p <0.05). In conclusion, gradual computerized balloon inflation using CAPSID as a platform for angioplasty and stenting significantly reduced TLR and major adverse cardiac events at 1 year in patients undergoing coronary stenting. The use of this novel device may improve outcomes in patients undergoing coronary stenting. PMID:19576351

  8. Clearance and synthesis rates of beta 2-microglobulin in patients undergoing hemodialysis and in normal subjects

    SciTech Connect

    Floege, J.; Bartsch, A.; Schulze, M.; Shaldon, S.; Koch, K.M.; Smeby, L.C. )

    1991-08-01

    Retention of {beta} 2-microglobulin in patients undergoing hemodialysis is associated with a {beta} 2-microglobulin-derived amyloidosis. Removal of {beta} 2-microglobulin by renal replacement therapy has been proposed for the prevention of this amyloidosis. Currently, however, data on the {beta} 2-microglobulin synthesis rate in patients undergoing hemodialysis are scarce, and consequently it remains speculative how much removal would be necessary to counterbalance synthesis. The plasma kinetics of iodine 131-labeled {beta} 2-microglobulin were therefore examined in 11 patients with anuria who were undergoing long-term hemodialysis. Five healthy persons served as controls. Kinetic modeling of the plasma curves showed that the data fitted a two-pool model (r2 greater than 0.96) consisting of a rapid 2 to 4 hour distribution phase followed by a less steep curve, described by the plasma (metabolic) clearance (Clp). Synthetic rates were calculated from Clp and the {beta} 2-microglobulin steady state plasma concentration (plus {beta} 2-microglobulin removal during hemodialysis in the case of high flux hemodialysis). The results showed a significantly higher Clp in normal controls as compared with patients undergoing hemodialysis (65.5 {plus minus} 12.8 ml/min (mean {plus minus} SD) versus 3.4 {plus minus} 0.7 ml/min). In contrast, the {beta} 2-microglobulin synthesis rate in the patient group (3.10 {plus minus} 0.79 mg/kg/day) was not significantly different from that of normal controls (2.40 {plus minus} 0.67 mg/kg/day), which was due to markedly elevated {beta} 2-microglobulin plasma concentrations in the patients (37.6 {plus minus} 14.1 mg/L vs 1.92 {plus minus} 0.27 mg/L). These findings suggest that the presence of end-stage renal disease does not have a significant impact on the beta 2-microglobulin generation rate.

  9. Genetic Causes of Recurrent Pregnancy Loss.

    PubMed

    Page, Jessica M; Silver, Robert M

    2016-09-01

    Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted. PMID:27414972

  10. Chasing Mendel: five questions for personalized medicine

    PubMed Central

    Joyner, Michael J; Prendergast, Franklyn G

    2014-01-01

    Ideas about personalized medicine are underpinned in part by evolutionary biology's Modern Synthesis. In this essay we link personalized medicine to the efforts of the early statistical investigators who quantified the heritability of human phenotype and then attempted to reconcile their observations with Mendelian genetics. As information about the heritability of common diseases was obtained, similar efforts were directed at understanding the genetic basis of disease phenotypes. These ideas were part of the rationale driving the Human Genome Project and subsequently the personalized medicine movement. In this context, we discuss: (1) the current state of the genotype–phenotype relationship in humans, (2) the common-disease–common-variant hypothesis, (3) the current ability of ‘omic’ information to inform clinical decision making, (4) emerging ideas about the therapeutic insight available from rare genetic variants, and (5) the social and behavioural barriers to the wider potential success of personalized medicine. There are significant gaps in knowledge as well as conceptual, intellectual, and philosophical limitations in each of these five areas. We then provide specific recommendations to mitigate these limitations and close by asking if it is time for the biomedical research community to ‘stop chasing Mendel?’ PMID:24882820

  11. Micronutrient deficiency in obese subjects undergoing low calorie diet

    PubMed Central

    2012-01-01

    Background The prevalence of micronutrient deficiencies is higher in obese individuals compared to normal-weight people, probably because of inadequate eating habits but also due to increased demands among overweight persons, which are underestimated by dietary reference intakes (DRI) intended for the general population. We therefore evaluated the dietary micronutrient intake in obese individuals compared to a reference population and DRI recommendations. Furthermore, we determined the micronutrient status in obese subjects undergoing a standardized DRI-covering low-calorie formula diet to analyze if the DRI meet the micronutrient requirements of obese individuals. Methods In 104 subjects baseline micronutrient intake was determined by dietary record collection. A randomly assigned subgroup of subjects (n = 32) underwent a standardized DRI-covering low-calorie formula diet over a period of three months. Pre- and post-interventional intracellular micronutrient status in buccal mucosa cells (BMC) was analyzed, as well as additional micronutrient serum concentrations in 14 of the subjects. Results Prior to dietetic intervention, nutrition was calorie-rich and micronutrient-poor. Baseline deficiencies in serum concentrations were observed for 25-hydroxyvitamin-D, vitamin C, selenium, iron, as well as ß-carotene, vitamin C, and lycopene in BMC. After a three-month period of formula diet even more subjects had reduced micronutrient levels of vitamin C (serum, BMC), zinc, and lycopene. There was a significant negative correlation between lipophilic serum vitamin concentrations and body fat, as well as between iron and C-reactive protein. Conclusions The present pilot study shows that micronutrient deficiency occurring in obese individuals is not corrected by protein-rich formula diet containing vitamins and minerals according to DRI. In contrast, micronutrient levels remain low or become even lower, which might be explained by insufficient intake, increased demand

  12. Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM

    ClinicalTrials.gov

    2016-03-15

    Cytochrome P450 CYP2D6 Enzyme Deficiency; Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant; Ultrarapid Metabolizer Due to Cytochrome P450 CYP2D6 Variant; Extensive Metabolizer Due to Cytochrome P450 CYP2D6 Variant; Cytochrome P450 CYP2C9 Enzyme Deficiency; Cytochrome P450 CYP2C19 Enzyme Deficiency; Drug Metabolism, Poor, CYP2D6-RELATED; Drug Metabolism, Poor, CYP2C19-RELATED; CYP2D6 Polymorphism

  13. Novel oral anticoagulants in patients undergoing cardioversion for atrial fibrillation.

    PubMed

    Briasoulis, Alexandros; Kottam, Anupama; Khan, Mazhar; Afonso, Luis

    2015-08-01

    Recent trials on novel oral anticoagulants (NOAC) in patients undergoing cardioversion showed that NOACs are as safe and effective as treatment with vitamin K antagonists in patients with atrial fibrillation undergoing electric or pharmacological cardioversion. We conducted an EMBASE and MEDLINE search for studies in which patients undergoing cardioversion were assigned to treatment with NOACs versus VKAs. We identified one prospective randomized study and three post hoc analysis of randomized trials which enrolled 2,788 controls that received NOACs and 1,729 patients that received VKAs. NOACs and VKAs had comparable effects on the rates of stroke/thromboembolism, major bleeding events and all-cause mortality. NOACs are safe and effective alternatives to VKA in patients with AF undergoing cardioversion. PMID:25542262

  14. 14. EAST ELEVATION, COTTAGE. EXTERIOR NEARLY RESTORED. INTERIOR UNDERGOING RESTORATION. ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    14. EAST ELEVATION, COTTAGE. EXTERIOR NEARLY RESTORED. INTERIOR UNDERGOING RESTORATION. EUCALYPTUS TREE PLANTED BY GERTRUDE KEIL PLANNED FOR REMOVAL. - Gold Ridge Farm, 7777 Bodega Avenue, Sebastopol, Sonoma County, CA

  15. 78 FR 52770 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-26

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Collection of Qualitative Feedback on Agency Service Delivery--NEW--Centers for Disease Control and Prevention (CDC), Office of Surveillance, Epidemiology, and Laboratory Services (OSELS), Public...

  16. 78 FR 69092 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-18

    ...: Control Numbers 0920- 0128, (Congenital Syphilis Surveillance), 0920-0819 (Nationally Notifiable Sexually... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  17. Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities.

    PubMed

    Smith, Caren E; Fullerton, Stephanie M; Dookeran, Keith A; Hampel, Heather; Tin, Adrienne; Maruthur, Nisa M; Schisler, Jonathan C; Henderson, Jeffrey A; Tucker, Katherine L; Ordovás, José M

    2016-08-01

    Evidence shows that both biological and nonbiological factors contribute to health disparities. Genetics, in particular, plays a part in how common diseases manifest themselves. Today, unprecedented advances in genetically based diagnoses and treatments provide opportunities for personalized medicine. However, disadvantaged groups may lack access to these advances, and treatments based on research on non-Hispanic whites might not be generalizable to members of minority groups. Unless genetic technologies become universally accessible, existing disparities could be widened. Addressing this issue will require integrated strategies, including expanding genetic research, improving genetic literacy, and enhancing access to genetic technologies among minority populations in a way that avoids harms such as stigmatization. PMID:27503959

  18. Personalized genomic disease risk of volunteers

    PubMed Central

    Gonzalez-Garay, Manuel L.; McGuire, Amy L.; Pereira, Stacey; Caskey, C. Thomas

    2013-01-01

    Next-generation sequencing (NGS) is commonly used for researching the causes of genetic disorders. However, its usefulness in clinical practice for medical diagnosis is in early development. In this report, we demonstrate the value of NGS for genetic risk assessment and evaluate the limitations and barriers for the adoption of this technology into medical practice. We performed whole exome sequencing (WES) on 81 volunteers, and for each volunteer, we requested personal medical histories, constructed a three-generation pedigree, and required their participation in a comprehensive educational program. We limited our clinical reporting to disease risks based on only rare damaging mutations and known pathogenic variations in genes previously reported to be associated with human disorders. We identified 271 recessive risk alleles (214 genes), 126 dominant risk alleles (101 genes), and 3 X-recessive risk alleles (3 genes). We linked personal disease histories with causative disease genes in 18 volunteers. Furthermore, by incorporating family histories into our genetic analyses, we identified an additional five heritable diseases. Traditional genetic counseling and disease education were provided in verbal and written reports to all volunteers. Our report demonstrates that when genome results are carefully interpreted and integrated with an individual’s medical records and pedigree data, NGS is a valuable diagnostic tool for genetic disease risk. PMID:24082139

  19. Person-oriented perspectives in neurology.

    PubMed

    Lisak, Marijana; Demarin, Vida; Trkanjec, Zlatko; Zavoreo, Iris; Kes, Vanja Bašić

    2014-12-01

    Person-oriented medicine is characterized by a holistic approach in patient ma- nagement that embraces physical, psychological, social and spiritual aspects of health and dise- ase. It responds to the needs of patients and health care workers to form an effective therapeutic relationship based on trust, empathy, compassion and responsiveness to the individual needs of a patient. Person-oriented perspectives in neurology include active collaborative partnership between a physician and a patient, and intuitive perception, which has a neurobiological correlate in the hu- man mirror neuron system, thus expressing a considerable impact on the quality of the physician's diagnostic and therapeutic activities. On the other hand, personalized approach in medicine implies integration of clinical information and personal genotyping. Personalized neurology provides gene- based preclinical prediction of disease with improved risk assessment, early detection of disease and targeted intervention. The combination of personalized approach and clinical information accelera- tes the translation of genetic discoveries into clinical practice, which ultimately results in improved health care system. Person-oriented perspectives contribute significantly to the growing pluralism of medical science and provide a greater humanization of medicine, individualized treatment and autonomy during therapeutic processes. PMID:25868310

  20. Cocaine addiction and personality: a mathematical model.

    PubMed

    Caselles, Antonio; Micó, Joan C; Amigó, Salvador

    2010-05-01

    The existence of a close relation between personality and drug consumption is recognized, but the corresponding causal connection is not well known. Neither is it well known whether personality exercises an influence predominantly at the beginning and development of addiction, nor whether drug consumption produces changes in personality. This paper presents a dynamic mathematical model of personality and addiction based on the unique personality trait theory (UPTT) and the general modelling methodology. This model attempts to integrate personality, the acute effect of drugs, and addiction. The UPTT states the existence of a unique trait of personality called extraversion, understood as a dimension that ranges from impulsive behaviour and sensation-seeking (extravert pole) to fearful and anxious behaviour (introvert pole). As a consequence of drug consumption, the model provides the main patterns of extraversion dynamics through a system of five coupled differential equations. It combines genetic extraversion, as a steady state, and dynamic extraversion in a unique variable measured on the hedonic scale. The dynamics of this variable describes the effects of stimulant drugs on a short-term time scale (typical of the acute effect); while its mean time value describes the effects of stimulant drugs on a long-term time scale (typical of the addiction effect). This understanding may help to develop programmes of prevention and intervention in drug misuse. PMID:20030966

  1. Methods of Studying Persons.

    ERIC Educational Resources Information Center

    Heinemann, Allen W.; Shontz, Franklin C.

    1985-01-01

    Describes a method that permits answering research questions of general importance by examining individuals in a comprehensive, whole-person manner. Discusses their use in two studies of persons with spinal cord injuries. (LLL)

  2. Borderline Personality Disorder: Psychotherapy

    MedlinePlus Videos and Cool Tools

    ... associated with one person to another person, such as the therapist. In that moment, the therapist talks ... other people. Therapy addresses intense shifts in emotions as patients learn to reflect and verbalize what they’ ...

  3. Classification of personality disorder.

    PubMed

    Tyrer, P; Alexander, J

    1979-08-01

    An interview schedule was used to record the personality traits of 130 psychiatric patients, 65 with a primary clinical diagnosis of personality disorder and 65 with other diagnoses. The results were analysed by factor analysis and three types of cluster analysis. Factor analysis showed a similar structure of personality variables in both groups of patients, supporting the notion that personality disorders differ only in degree from the personalities of other psychiatric patients. Cluster analysis revealed five discrete categories; sociopathic, passive-dependent, anankastic, schizoid and a non-personality-disordered group. Of all the personality-disordered patients 63 per cent fell into the passive-dependent or sociopathic category. The results suggest that the current classification of personality disorder could be simplified. PMID:497619

  4. Unlocking Personality Type.

    ERIC Educational Resources Information Center

    Tieger, Paul D.

    2002-01-01

    This article examines some of the intricacies of personality types and their effect on career choices. Proposes that knowing students' Myers-Briggs personality types can help school counselors guide them down the right career path. (GCP)

  5. Dependent personality disorder

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000941.htm Dependent personality disorder To use the sharing features on this page, please enable JavaScript. Dependent personality disorder is a mental condition in which people ...

  6. Histrionic personality disorder

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001531.htm Histrionic personality disorder To use the sharing features on this page, please enable JavaScript. Histrionic personality disorder is a mental condition in which people ...

  7. Schizotypal personality disorder

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001525.htm Schizotypal personality disorder To use the sharing features on this page, please enable JavaScript. Schizotypal personality disorder is a mental condition in which a ...

  8. Histrionic personality disorder

    MedlinePlus

    Histrionic personality disorder is a mental condition in which people act in a very emotional and dramatic way that ... Causes of histrionic personality disorder are unknown. Genes and ... may be responsible. It is diagnosed more often in women than ...

  9. Mapping genetic influences on human brain structure.

    PubMed

    Thompson, Paul; Cannon, Tyrone D; Toga, Arthur W

    2002-01-01

    Recent advances in brain imaging and genetics have empowered the mapping of genetic and environmental influences on the human brain. These techniques shed light on the 'nature/nurture' debate, revealing how genes determine individual differences in intelligence quotient (IQ) or risk for disease. They visualize which aspects of brain structure and function are heritable, and to what degree, linking these features with behavioral or cognitive traits or disease phenotypes. In genetically transmitted disorders such as schizophrenia, patterns of brain structure can be associated with increased disease liability, and sites can be mapped where non-genetic triggers may initiate disease. We recently developed a large-scale computational brain atlas, including data components from the Finnish Twin registry, to store information on individual variations in brain structure and their heritability. Algorithms from random field theory, anatomical modeling, and population genetics were combined to detect a genetic continuum in which brain structure is heavily genetically determined in some areas but not others. These algorithmic advances motivate studies of disease in which the normative atlas acts as a quantitative reference for the heritability of structural differences and deficits in patient populations. The resulting genetic brain maps isolate biological markers for inherited traits and disease susceptibility, which may serve as targets for genetic linkage and association studies. Computational methods from brain imaging and genetics can be fruitfully merged, to shed light on the inheritance of personality differences and behavioral traits, and the genetic transmission of diseases that affect the human brain. PMID:12553492

  10. An historical perspective on genetic care.

    PubMed

    Jenkins, J F

    2000-01-01

    The outcomes of genetic research endeavors have the potential to transform health care with significant implications for both providers and consumers of clinical services. Professional and public integration of genetics knowledge is key to successful utilization of genetics information. This article will provide an overview of genetics including a historical perspective, examples of genetic health care, the nursing perspective, and ethical considerations and challenges. New scientific explanations for health, disease, responsiveness to treatment, and design of options for care may create personal and professional dilemmas. Nurses have a responsibility to become active participants in confronting the demands resulting from this new knowledge for education, practice, and policy. The purpose of this article is to provide a foundation from which the profession of nursing can build to enhance current skills and knowledge about genetics to prepare for this transformation in health care. PMID:11380267

  11. [Personality and Dementia].

    PubMed

    Masui, Yukie

    2016-07-01

    Previous studies have looked into the relationships between personality and dementia from three hypothetical points of views: 1) that personality type is a risk factor for dementia, 2) that personality changes occur before receiving a diagnosis of dementia, and 3) that premorbid personality traits define behavioral and psychological symptoms of dementia (BPSD) after receiving a diagnosis. This article overviews all three perspectives of the studies, after explaining the character and characteristic attributes of each perspective. PMID:27395463

  12. Genetic Disorders

    MedlinePlus

    ... of pregnancy loss. How do I know which tests to have? Your health care provider or a genetic counselor can discuss all of the testing options with you and help you decide based on your individual risk factors. Do I have to have these tests? Whether you want to be tested is a ...

  13. Genetic Recombination

    ERIC Educational Resources Information Center

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  14. Personal Computer Networks.

    ERIC Educational Resources Information Center

    Barkley, John

    This report develops a model of a personal computer network for office use from the standpoint of the end user. A network designed for personal computers is differentiated from personal computers which must be attached to an existing communications system. Three types of the latter networks are discussed: (1) networks which connect personal…

  15. Attachment and Personality Disorders

    ERIC Educational Resources Information Center

    Sinha, Preeti; Sharan, Pratap

    2007-01-01

    Personality disorders (PDs) arise from core psychopathology of interpersonal relationships and understanding of self and others. The distorted representations of self and others, as well as unhealthy relationships that characterize persons with various PDs, indicate the possibility that persons with PDs have insecure attachment. Insecure…

  16. The Amerind Personal Pronouns.

    ERIC Educational Resources Information Center

    Nichols, Johanna; Peterson, David A.

    1996-01-01

    Presents a cross-linguistic survey showing that personal pronouns with first person "n" and second person "m" have an extensive yet restricted geographical range limited to the western Americas. Findings indicate that the "n:m" pronouns reflect a single, datable, noninitial, and nonterminal phase in the settlement of the Americas and are probably…

  17. PERSONALITY AND CONFORMITY.

    ERIC Educational Resources Information Center

    BAROCAS, RALPH; GORLOW, LEON

    AN INVESTIGATION WAS MADE OF THE RELATIONSHIP BETWEEN PERSONALITY FACTORS AND CONFORMITY. THE SUBJECTS WERE 243 RANDOMLY SELECTED STUDENTS ENROLLED IN COLLEGE PSYCHOLOGY COURSES WHO WERE DIVIDED INTO GROUPS OF 97, 96, AND 50 SUBJECTS. A PERSONALITY FACTOR INVENTORY WAS OBTAINED FROM RESPONSES TO A LARGE LIST OF TRUE-FALSE PERSONALITY ITEM…

  18. Personality and Sexual Orientation

    ERIC Educational Resources Information Center

    Harris, Charles M.

    2004-01-01

    Bases for individual acceptance and cultural integration of gays and lesbians were investigated by assessing qualities of personality among four participant groups: Heterosexual females, heterosexual males, homosexual females, and homosexual males. Personality was operationally defined as personal qualities and characteristics associated with…

  19. Personal, Anticipated Information Need

    ERIC Educational Resources Information Center

    Bruce, Harry

    2005-01-01

    Background: The role of personal information collections is a well known feature of personal information management. The World Wide Web has introduced to such collections ideas such as filing Web pages or noting their existence in "Bookmarks" and "Favourites". Argument: It is suggested that personal information collections are…

  20. Personality and Fibromyalgia Syndrome

    PubMed Central

    Malin, Katrina; Littlejohn, Geoffrey O

    2012-01-01

    Objectives: We aimed to review how personality characteristics contribute to the onset, maintenance or modulation of fibromyalgia. Method: The databases Medline and PsychINFO were examined from 1967 to 2012 to identify studies that investigated associations between fibromyalgia and personality. Search terms included fibromyalgia and personality, trait psychology, characteristics and individual differences. Results: Numerous studies indicate that patients with fibromyalgia experience psychological distress. Various instruments have been used to evaluate distress and related psychological domains, such as anxiety or depression, in fibromyalgia. In many cases, these same instruments have been used to study personality characteristics in fibromyalgia with a subsequent blurring of cause and effect between personality and psychological distress. In addition, the symptoms of fibromyalgia may change pre-illness personality characteristics themselves. These issues make it difficult to identify specific personality characteristics that might influence the fibromyalgia process. Despite this inherent problem with the methodologies used in the studies that make up this literature review, or perhaps because of it, we found no defined personality profile specific to fibromyalgia. However, many patients with fibromyalgia do show personality characteristics that facilitate psychological responses to stressful situations, such as catastrophising or poor coping techniques, and these in turn associate with mechanisms contributing to fibromyalgia. Conclusion: No specific fibromyalgia personality is defined but it is proposed that personality is an important filter that modulates a person’s response to psychological stressors. Certain personalities may facilitate translation of these stressors to physiological responses driving the fibromyalgia mechanism. PMID:23002409

  1. Genetic correlates of the evolving primate brain

    PubMed Central

    Vallender, Eric J.

    2012-01-01

    The tremendous shifts in the size, structure, and function of the brain during primate evolution are ultimately caused by changes at the genetic level. Understanding what these changes are and how they effect the phenotypic changes observed lies at the heart of understanding evolutionary change. This chapter focuses on understanding the genetic basis of primate brain evolution, considering the substrates and mechanisms through which genetic change occurs. It also discusses the implications that our current understandings and tools have for what we have already discovered and where our studies will head in the future. While genetic and genomic studies have identified many regions undergoing positive selection during primate evolution, the findings are certainly not exhaustive and functional relevance remains to be confirmed. Nevertheless, a strong foundation has been built upon which future studies will emerge. PMID:22230621

  2. A tiered-layered-staged model for informed consent in personal genome testing.

    PubMed

    Bunnik, Eline M; Janssens, A Cecile J W; Schermer, Maartje H N

    2013-06-01

    In recent years, developments in genomics technologies have led to the rise of commercial personal genome testing (PGT): broad genome-wide testing for multiple diseases simultaneously. While some commercial providers require physicians to order a personal genome test, others can be accessed directly. All providers advertise directly to consumers and offer genetic risk information about dozens of diseases in one single purchase. The quantity and the complexity of risk information pose challenges to adequate pre-test and post-test information provision and informed consent. There are currently no guidelines for what should constitute informed consent in PGT or how adequate informed consent can be achieved. In this paper, we propose a tiered-layered-staged model for informed consent. First, the proposed model is tiered as it offers choices between categories of diseases that are associated with distinct ethical, personal or societal issues. Second, the model distinguishes layers of information with a first layer offering minimal, indispensable information that is material to all consumers, and additional layers offering more detailed information made available upon request. Finally, the model stages informed consent as a process by feeding information to consumers in each subsequent stage of the process of undergoing a test, and by accommodating renewed consent for test result updates, resulting from the ongoing development of the science underlying PGT. A tiered-layered-staged model for informed consent with a focus on the consumer perspective can help overcome the ethical problems of information provision and informed consent in direct-to-consumer PGT. PMID:23169494

  3. Cancer Genetics Services Directory

    MedlinePlus

    ... Overview–for health professionals Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic ...

  4. Personalized professional content recommendation

    DOEpatents

    Xu, Songhua

    2015-10-27

    A personalized content recommendation system includes a client interface configured to automatically monitor a user's information data stream transmitted on the Internet. A hybrid contextual behavioral and collaborative personal interest inference engine resident to a non-transient media generates automatic predictions about the interests of individual users of the system. A database server retains the user's personal interest profile based on a plurality of monitored information. The system also includes a server programmed to filter items in an incoming information stream with the personal interest profile and is further programmed to identify only those items of the incoming information stream that substantially match the personal interest profile.

  5. Personality and place.

    PubMed

    Gelade, Garry A

    2013-02-01

    This paper examines the distribution of national personality dimensions in geographical space. The relationship between geographical location and aggregate personality in a wide range of nations is quantified using spatial autocorrelation, and it is found that the personalities of nations that are geographical neighbours are more similar than those that are far apart. The five factors of both the Revised NEO Personality Inventory (NEO-PI-R) and the Big Five Inventory (BFI), all show a significant degree of spatial organization. The personality factors most strongly associated with geographical location are NEO-PI-R extraversion and BFI conscientiousness; both vary with position around the globe about as much as the physical climate. These findings support previous research suggesting associations between aggregate personality and geography, and imply that the sources of variation in national personality are themselves geographically organized. PMID:23320443

  6. Sociogenomic Personality Psychology

    PubMed Central

    Roberts, Brent W.; Jackson, Joshua J.

    2009-01-01

    In this article, we address a number of issues surrounding biological models of personality traits. Most traditional and many contemporary biological models of personality traits assume that biological systems underlying personality traits are causal and immutable. In contrast, sociogenomic biology, which we introduce to readers in this article, directly contradicts the widely held assumption that something that is biological, heritable, or temperamental, is unchangeable. We provide examples of how seemingly unchanging biological systems, such as DNA, are both dependent on environments for elicitation and can be modified by environmental changes. Finally, we synthesize sociogenomic biology with personality psychology in a model of personality traits that integrates this more modern perspective on biology, physiology, and environment that we term sociogenomic personality psychology. We end the article with a discussion of the future directions of sociogenomic personality psychology. PMID:19012657

  7. Perceptions of Latinas on the Traditional Prenatal Genetic Counseling Model.

    PubMed

    Thompson, Stephanie; Noblin, Sarah Jane; Lemons, Jennifer; Peterson, Susan K; Carreno, Carlos; Harbison, Andrea

    2015-08-01

    The traditional genetic counseling model encompasses an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance the provision of enough basic genetic information to ensure clients' understanding of the genetic condition in question with a personalized discussion of what this information means to them. This study explored the perceptions Latinas have about prenatal genetic counseling sessions and aimed to determine if they had preferences about the delivery of care. Data were collected through focus groups and one-on-one, semi-structured interviews of 25 Spanish speaking Latinas who received genetic counseling during their current pregnancy. We implemented grounded theory to evaluate participant responses, and were able to identify common emergent themes. Several themes were identified including an overall satisfaction with their prenatal genetic counseling appointment, desire for a healthy baby, peace of mind following their appointment, lack of desire for invasive testing, and faith in God. Several participants stated a preference for group genetic counseling over the traditional individual genetic counseling model. Our data indicate that Latinas value the information presented at prenatal genetic counseling appointments despite disinterest in pursuing genetic testing or screening and suggest that group prenatal genetic counseling may be an effective alternative to the traditional genetic counseling model in the Latina population. PMID:25475921

  8. A Personality Disorders: Schizotypal, Schizoid and Paranoid Personality Disorders in Childhood and Adolescence

    PubMed Central

    Esterberg, Michelle L.; Goulding, Sandra M.

    2010-01-01

    Cluster A personality disorders (PD), including schizotypal personality disorder (SPD), paranoid personality disorder (PPD), and schizoid PD, are marked by odd and eccentric behaviors, and are grouped together because of common patterns in symptomatology as well as shared genetic and environmental risk factors. The DSM-IV-TR describes personality disorders as representing stable and enduring patterns of maladaptive traits, and much of what is understood about Cluster A personality disorders in particular stems from research with adult populations. Less in known about these disorders in children and adolescents, and controversy remains regarding diagnosis of personality disorders in general in youth. The current paper reviews the available research on Cluster A personality disorders in childhood and adolescence; specifically, we discuss differentiating between the three disorders and distinguishing them from other syndromes, measuring Cluster A disorders in youth, and the nature and course of these disorders throughout childhood and adolescence. We also present recent longitudinal data from a sample of adolescents diagnosed with Cluster A personality disorders from our research laboratory, and suggest directions for future research in this important but understudied area. PMID:21116455

  9. Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing.

    PubMed

    Lodder, Litanja; Frets, Petra G; Trijsburg, R Willem; Klijn, Jan G M; Seynaeve, Caroline; Tilanus, Madeleine M A; Bartels, Carina C M; Meijers-Heijboer, E Johanna; Verhoog, Leon C; Niermeijer, Martinus F

    2003-06-15

    Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt for undergoing frequent surveillance and/or prophylactic surgery. However, the option to know about one's genetic status is not always seen as a benefit by women at risk. Motives for declining genetic testing were explored in 13 women at 25% or 50% risk to be a BRCA1/BRCA2 mutation carrier, who participated in a surveillance program for breast/ovarian cancer (the non-tested group). We hypothesized that high anxiety might be an important motive to decline testing. In addition, we investigated whether the non-tested group differed from a reference group of women who did undergo the test (tested group; n = 85) with regard to biographical factors, experience with cancer in relatives, and personality traits. Most non-tested women (10/13) were satisfied with participating in the surveillance program. Four reported to feel emotionally unprepared to cope with the consequences of testing. Compared with the tested group, the non-tested women had similar mean distress levels (which were not high), but a higher education level, they were more often childless, showed more reluctance towards prophylactic surgery, were younger when first confronted with a relative affected with breast/ovarian cancer, and were longer aware of the genetic nature of the disease. This study showed that women were more likely to have thoroughly reflected on their decision not to undergo genetic testing, than to deny the whole issue due to high anxiety. Being confronted at a relatively young age with breast/ovarian cancer in a relative, and being aware of the genetic risk for a many years, may have resulted in the risk for cancer becoming an integrated part of their lives. However, generalization of these results to women who neither underwent the test nor participated in a surveillance program should be considered with caution. PMID:12784290

  10. Experience with genetic counseling: the adolescent perspective.

    PubMed

    Pichini, Amanda; Shuman, Cheryl; Sappleton, Karen; Kaufman, Miriam; Chitayat, David; Babul-Hirji, Riyana

    2016-06-01

    Adolescence is a complex period of development that involves creating a sense of identity, autonomy, relationships and values. This stage of adjustment can be complicated by having a genetic condition. Genetic counseling can play an important role in providing information and support to this patient population; however, resources and guidelines are currently limited. In order to appropriately establish genetic counseling approaches and resource development, we investigated the experiences and perspectives of adolescents with a genetic condition with respect to their genetic counseling interactions. Using a qualitative exploratory approach, eleven semi-structured interviews were conducted with adolescents diagnosed with a genetic condition who received genetic counseling between the ages of 12 and 18 years at The Hospital for Sick Children. Transcripts were analyzed thematically using qualitative content analysis, from which three major interrelated themes emerged: 1) understanding the genetic counselor's role; 2) increasing perceived personal control; and 3) adolescent-specific factors influencing adaptation to one's condition. Additionally, a list of suggested tools and strategies for genetic counseling practice were elucidated. Our findings can contribute to the development of an adolescent-focused framework to enhance emerging genetic counseling approaches for this patient population, and can also facilitate the transition process from pediatric to adult care within patient and family-centered contexts. PMID:26573304

  11. Mitochondrial genetics

    PubMed Central

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was conducted using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/). In addition, this review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (www.mitomap.org), the Human DNA polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/) and PhyloTree.org (www.phylotree.org), a repository of global mtDNA variation. Areas of agreement The disruption in cellular energy, resulting from defects in mtDNA or defects in the nuclear-encoded genes responsible for mitochondrial maintenance, manifests in a growing number of human diseases. Areas of controversy The exact mechanisms which govern the inheritance of mtDNA are hotly debated. Growing points Although still in the early stages, the development of in vitro genetic manipulation could see an end to the inheritance of the most severe mtDNA disease. PMID:23704099

  12. Cancer Genetics Services Directory

    MedlinePlus

    ... Prevention Overview–for health professionals Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  13. Genetic Testing (For Parents)

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy Genetic Testing KidsHealth > For Parents > Genetic Testing Print A ... blood, skin, bone, or other tissue is needed. Genetic Testing During Pregnancy For genetic testing before birth, ...

  14. Genetically engineered foods

    MedlinePlus

    ... plants or animals) inserted into their genetic codes. Genetic engineering can be done with plants, animals, or bacteria ... have been genetically engineering plants since the 1990s. Genetic engineering allows scientists to speed this process up by ...

  15. Personalized medicine and the clinical laboratory

    PubMed Central

    Pinho, João Renato Rebello; Sitnik, Roberta; Mangueira, Cristóvão Luis Pitangueira

    2014-01-01

    Personalized medicine is the use of biomarkers, most of them molecular markers, for detection of specific genetic traits to guide various approaches for preventing and treating different conditions. The identification of several genes related to heredity, oncology and infectious diseases lead to the detection of genetic polymorphisms that are involved not only in different clinical progression of these diseases but also in variations in treatment response. Currently, it is possible to detect these polymorphisms using several methodologies: detection of single nucleotide polymorphisms using polymerase chain reaction methods; nucleic acid microarray detection; and nucleic acid sequencing with automatized DNA sequencers using Sanger-derived methods and new generation sequencing. Personalized medicine assays are directed towards detecting genetic variations that alter interactions of drugs with targets or the metabolic pathways of drugs (upstream and downstream) and can be utilized for the selection of drug formulations and detect different immunogenicities of the drug. Personalized medicine applications have already been described in different areas of Medicine and allow specific treatment approaches to be applied to each patient and pathology according to the results of these assays. The application of such a protocol demands an increasing interaction between the clinical laboratory and the clinical staff. For its implementation, a coordinated team composed of basic researchers and physicians highly specialized in their areas supported by a highly specialized team of clinical analysts particularly trained in molecular biology assays is necessary. PMID:25295459

  16. Love scripts of persons with antisocial personality.

    PubMed

    Gawda, Barbara

    2008-10-01

    This study compared the scripts of love among 60 prison inmates diagnosed with Antisocial Personality Disorder and those of 40 inmates without an Antisocial Personality Disorder diagnosis but low antisocial tendencies, and a control group of 100 adult students in extramural or evening secondary schools without Antisocial Personality Disorder traits. The study focused on emotional knowledge about love of the group with Antisocial Personality Disorder, as they present lack of capacity for love. The study was done to examine how they perceive love and how much knowledge they have about love. All described their reactions to a photograph of a couple hugging each other. The content of these scripts, analyzed in terms of description of actors, their actions and emotions, and length of description, was compared among the groups. The scripts of love by antisocial inmates contained more actors' feelings and strong emotions, as well as more descriptions of actors' traits, their actions, and presumptions. The inmates with Antisocial Personality Disorder showed more focus on themselves when they described love than the other inmates and the controls. PMID:19102460

  17. [Personality characteristics of hypertensive patients].

    PubMed

    Kubej, P; Korán, M

    1989-02-01

    Essential hypertension, as well-known specialists believe, is due both to genetic and external environment factors. Apart from the steadily growing complexity of social life and various important life events, high-risk factors may also be seen in a certain way of behaviour and man's psychophysiological reactivity. Recent literature on this topic informs about some common characteristics found in the behaviour of hypertensive persons, for example: anxiety in social contacts, suppressed hostility, manifestations of perfectionism, suppression of emotions, exaggerated behavioral adaptability and defensive attitudes to stress stimuli. In accordance with literary data, the control group of hypertensive patients (N = 89) gave evidence of some identical characteristics. Their knowledge permits to carry out more specific attempts at influencing hypertension in a non-pharmacological way. PMID:2720750

  18. Eliminating barriers to personalized medicine

    PubMed Central

    2014-01-01

    With the emergence of high-throughput discovery platforms, robust preclinical small-animal models, and efficient clinical trial pipelines, it is becoming possible to envision a time when the treatment of human neurologic diseases will become personalized. The emergence of precision medicine will require the identification of subgroups of patients most likely to respond to specific biologically based therapies. This stratification only becomes possible when the determinants that contribute to disease heterogeneity become more fully elucidated. This review discusses the defining factors that underlie disease heterogeneity relevant to the potential for individualized brain tumor (optic pathway glioma) treatments arising in the common single-gene cancer predisposition syndrome, neurofibromatosis type 1 (NF1). In this regard, NF1 is posited as a model genetic condition to establish a workable paradigm for actualizing precision therapeutics for other neurologic disorders. PMID:24975854

  19. Factors that motivate people to undergo cosmetic surgery.

    PubMed

    Furnham, Adrian; Levitas, James

    2012-01-01

    A sample of 204 British participants completed a questionnaire that assessed their attitude toward cosmetic surgery as well as measures of self-esteem, life satisfaction, self-rated physical attractiveness, religiosity and media consumption. Two factors emerged from a factor analysis of their attitudes toward surgery: likelihood to undergo, and benefits of undergoing, cosmetic surgery. Females with low self-esteem, low life satisfaction, low self-rated attractiveness and little religious beliefs who were heavy television watchers reported a greater likelihood of undergoing cosmetic surgery. Stepwise regression analysis with the two attitude factors as criterion variables showed two major predictors for likelihood: religiousness and low self-esteem, and four major predictors for benefit: religousness, media consumption, life satisfaction and sex. The role of religion is considered in this context. PMID:24294026

  20. Factors that motivate people to undergo cosmetic surgery

    PubMed Central

    Furnham, Adrian; Levitas, James

    2012-01-01

    A sample of 204 British participants completed a questionnaire that assessed their attitude toward cosmetic surgery as well as measures of self-esteem, life satisfaction, self-rated physical attractiveness, religiosity and media consumption. Two factors emerged from a factor analysis of their attitudes toward surgery: likelihood to undergo, and benefits of undergoing, cosmetic surgery. Females with low self-esteem, low life satisfaction, low self-rated attractiveness and little religious beliefs who were heavy television watchers reported a greater likelihood of undergoing cosmetic surgery. Stepwise regression analysis with the two attitude factors as criterion variables showed two major predictors for likelihood: religiousness and low self-esteem, and four major predictors for benefit: religousness, media consumption, life satisfaction and sex. The role of religion is considered in this context. PMID:24294026

  1. Genetic Modifiers of Sickle Cell Disease

    PubMed Central

    Steinberg, Martin H.; Sebastiani, Paola

    2015-01-01

    Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident ∝ thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new “druggable” pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease. PMID:22641398

  2. Breast Cancer, BRCA Mutations, and Attitudes Regarding Pregnancy and Preimplantation Genetic Diagnosis

    PubMed Central

    Woodson, Ashley H.; Muse, Kimberly I.; Lin, Heather; Jackson, Michelle; Mattair, Danielle N.; Schover, Leslie; Woodard, Terri; McKenzie, Laurie; Theriault, Richard L.; Hortobágyi, Gabriel N.; Arun, Banu; Peterson, Susan K.; Profato, Jessica

    2014-01-01

    Background. Women with premenopausal breast cancer may face treatment-related infertility and have a higher likelihood of a BRCA mutation, which may affect their attitudes toward future childbearing. Methods. Premenopausal women were invited to participate in a questionnaire study administered before and after BRCA genetic testing. We used the Impact of Event Scale (IES) to evaluate the pre- and post-testing impact of cancer or carrying a BRCA mutation on attitudes toward future childbearing. The likelihood of pursuing prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD) was also assessed in this setting. Univariate analyses determined factors contributing to attitudes toward future childbearing and likelihood of PND or PGD. Results. One hundred forty-eight pretesting and 114 post-testing questionnaires were completed. Women with a personal history of breast cancer had less change in IES than those with no history of breast cancer (p = .003). The 18 BRCA-positive women had a greater change in IES than the BRCA-negative women (p = .005). After testing, 31% and 24% of women would use PND and PGD, respectively. BRCA results did not significantly affect attitudes toward PND/PGD. Conclusion. BRCA results and history of breast cancer affect the psychological impact on future childbearing. Intentions to undergo PND or PGD do not appear to change after disclosure of BRCA results. Additional counseling for patients who have undergone BRCA testing may be warranted to educate patients about available fertility preservation options. PMID:24951607

  3. Neuroanatomical Correlates of Personality in the Elderly

    PubMed Central

    Feczko, Eric; Dickerson, Bradford; Williams, Danielle

    2007-01-01

    Extraversion and neuroticism are two important and frequently studied dimensions of human personality. They describe individual differences in emotional responding that are quite stable across the adult lifespan. Neuroimaging research has begun to provide evidence that neuroticism and extraversion have specific neuroanatomical correlates within the cerebral cortex and amygdala of young adults. However, these brain areas undergo alterations in size with aging, which may influence the nature of these personality factor-brain structure associations in the elderly. One study in the elderly demonstrated associations between perisylvian cortex structure and measures of self transcendence (Kaasinen et al., 2005), but the neuroanatomical correlates of extraversion and neuroticism, or other measures of the Five Factor Model of personality have not been explored. The purpose of the present study was to investigate the structural correlates of neuroticism and extraversion in healthy elderly subjects (n=29) using neuroanatomic measures of the cerebral cortex and amygdala. We observed that the thickness of specific lateral prefrontal cortex (PFC) regions, but not amygdala volume, correlates with measures of extraversion and neuroticism. The results suggest differences in the regional neuroanatomic correlates of specific personality traits with aging. We speculate that this relates to the influences of age-related structural changes in the PFC. PMID:17229578

  4. Factors affecting postoperative blood loss in children undergoing cardiac surgery.

    PubMed

    Faraoni, David; Van der Linden, Philippe

    2014-01-01

    We hypothesized that the influence of cyanotic disease on postoperative blood loss is closely related to age in children undergoing cardiac surgery. Here, we demonstrate that the presence of a cyanotic disease is associated with increased postoperative blood loss in children aged 1 to 6 months. Children with cyanotic disease and aged<1 month who received fresh frozen plasma during cardiopulmonary bypass had less postoperative blood loss and higher maximal clot firmness on FIBTEM than cyanotic children from all other groups. Additional studies are needed to define optimal pathophysiology-based management in children undergoing cardiac surgery. PMID:24512988

  5. 77 FR 27064 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-08

    ... behaviors, health status, and health care utilization of Lesbian, Gay, Bisexual, and Transgender (LGBT... estimates of sexual minorities (Lesbian, Gay, Bisexual or Transgender persons) from this mode...

  6. A transversely isotropic viscoelastic constitutive equation for brainstem undergoing finite deformation.

    PubMed

    Ning, Xinguo; Zhu, Qiliang; Lanir, Yoram; Margulies, Susan S

    2006-12-01

    The objective of this study was to define the constitutive response of brainstem undergoing finite shear deformation. Brainstem was characterized as a transversely isotropic viscoelastic material and the material model was formulated for numerical implementation. Model parameters were fit to shear data obtained in porcine brainstem specimens undergoing finite shear deformation in three directions: parallel, perpendicular, and cross sectional to axonal fiber orientation and determined using a combined approach of finite element analysis (FEA) and a genetic algorithm (GA) optimizing method. The average initial shear modulus of brainstem matrix of 4-week old pigs was 12.7 Pa, and therefore the brainstem offers little resistance to large shear deformations in the parallel or perpendicular directions, due to the dominant contribution of the matrix in these directions. The fiber reinforcement stiffness was 121.2 Pa, indicating that brainstem is anisotropic and that axonal fibers have an important role in the cross-sectional direction. The first two leading relative shear relaxation moduli were 0.8973 and 0.0741, respectively, with corresponding characteristic times of 0.0047 and 1.4538 s, respectively, implying rapid relaxation of shear stresses. The developed material model and parameter estimation technique are likely to find broad applications in neural and orthopaedic tissues. PMID:17154695

  7. Statistical Enrichment of Epigenetic States Around Triplet Repeats that Can Undergo Expansions

    PubMed Central

    Essebier, Alexandra; Vera Wolf, Patricia; Cao, Minh Duc; Carroll, Bernard J.; Balasubramanian, Sureshkumar; Bodén, Mikael

    2016-01-01

    More than 30 human genetic diseases are linked to tri-nucleotide repeat expansions. There is no known mechanism that explains repeat expansions in full, but changes in the epigenetic state of the associated locus has been implicated in the disease pathology for a growing number of examples. A comprehensive comparative analysis of the genomic features associated with diverse repeat expansions has been lacking. Here, in an effort to decipher the propensity of repeats to undergo expansion and result in a disease state, we determine the genomic coordinates of tri-nucleotide repeat tracts at base pair resolution and computationally establish epigenetic profiles around them. Using three complementary statistical tests, we reveal that several epigenetic states are enriched around repeats that are associated with disease, even in cells that do not harbor expansion, relative to a carefully stratified background. Analysis of over one hundred cell types reveals that epigenetic states generally tend to vary widely between genic regions and cell types. However, there is qualified consistency in the epigenetic signatures of repeats associated with disease suggesting that changes to the chromatin and the DNA around an expanding repeat locus are likely to be similar. These epigenetic signatures may be exploited further to develop models that could explain the propensity of repeats to undergo expansions. PMID:27013954

  8. [Evolution and quality of the diet of women with severe and morbid obesity undergoing gastric bypass].

    PubMed

    Rebolledo, Annabella; Basfi-fer, Karen; Rojas, Pamela; Codoceo, Juana; Inostroza, Jorge; Carrasco, Fernando; Ruz, Manuel

    2009-03-01

    Evolution and quality of the diet of women with severe and morbid obesity undergoing gastric bypass. The objective of this study was to evaluate the changes of dietary intake and quality of the diet in patients undergoing gastric bypass. In forty-four women with severe and morbid obesity it was assessed their nutrient intakes before and 6, 12, and 18 months after gastric bypass by using three-day food records. Vitamin and mineral intakes from supplements were strictly controlled though personalized records. With the exceptions of calcium and vitamin A, energy and nutrient intakes were significantly decreased at 6, 12, and 18 month after bypass compared to the pre-surgery period. Dietary intakes of calcium, iron, zinc, copper, folic acid, vitamin C, and vitamin E were below 100% of adequacy from the 6th month after the surgery and thereafter. This situation is reverted when nutrient intakes supplied by supplements are taken into account. Although a "U" shape trend was observed in the nutrient intakes results during the experimental period, in most cases the differences between the observed values at month 12 and 18 were not significant. In conclusion, these patients had important reductions of their energy and nutrient intakes as result of gastric bypass. Routine supplements may correct this situation, nevertheless, the anatomical alterations inherent to this type of surgery may cause that total nutrient intakes reaching adequacy values slightly above 100%, may not necessarily be able to avoid the development of nutritional deficiencies. PMID:19480338

  9. Personalized medicine, genomics, and pharmacogenomics: a primer for nurses.

    PubMed

    Blix, Andrew

    2014-08-01

    Personalized medicine is the study of patients' unique environmental influences as well as the totality of their genetic code-their genome-to tailor personalized risk assessments, diagnoses, prognoses, and treatments. The study of how patients' genomes affect responses to medications, or pharmacogenomics, is a related field. Personalized medicine and genomics are particularly relevant in oncology because of the genetic basis of cancer. Nurses need to understand related issues such as the role of genetic and genomic counseling, the ethical and legal questions surrounding genomics, and the growing direct-to-consumer genomics industry. As genomics research is incorporated into health care, nurses need to understand the technology to provide advocacy and education for patients and their families. PMID:25095297

  10. Schizoid personality disorder

    MedlinePlus

    ... handling relationships that focus on: Work Intellectual activities Expectations ... person from asking for help or support. Limiting expectations of emotional intimacy may help people with this ...

  11. Avoiding personal data loss.

    PubMed

    Bergeron, B P

    1999-01-01

    The potential personal, financial, emotional, and professional costs associated with the loss of data stored in personal computing devices are difficult to appreciate a priori. Because of the potentially devastating consequences of significant data loss, it behooves all clinicians to take personal responsibility in securing their data, whether or not this responsibility is nominally assumed by Information Systems (IS) professionals. There are a variety of straightforward, easily implemented approaches that can be used to help secure personal data, including investigating IS department policies, following proper backing-up procedures, observing reasonable security precautions, keeping digital media current, and establishing a process for executing these approaches. PMID:10725050

  12. Avoidant personality disorder

    MedlinePlus

    ... Names Personality disorder - avoidant References American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington, VA: American Psychiatric Publishing. 2013. ...

  13. Borderline personality disorder

    MedlinePlus

    ... Names Personality disorder - borderline References American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington, VA: American Psychiatric Publishing. 2013. ...

  14. Patient reactions to personalized medicine vignettes: An experimental design

    PubMed Central

    Butrick, Morgan; Roter, Debra; Kaphingst, Kimberly; Erby, Lori H.; Haywood, Carlton; Beach, Mary Catherine; Levy, Howard P.

    2011-01-01

    Purpose Translational investigation on personalized medicine is in its infancy. Exploratory studies reveal attitudinal barriers to “race-based medicine” and cautious optimism regarding genetically personalized medicine. This study describes patient responses to hypothetical conventional, race-based, or genetically personalized medicine prescriptions. Methods Three hundred eighty-seven participants (mean age = 47 years; 46% white) recruited from a Baltimore outpatient center were randomized to this vignette-based experimental study. They were asked to imagine a doctor diagnosing a condition and prescribing them one of three medications. The outcomes are emotional response to vignette, belief in vignette medication efficacy, experience of respect, trust in the vignette physician, and adherence intention. Results Race-based medicine vignettes were appraised more negatively than conventional vignettes across the board (Cohen’s d = −0.51−0.57−0.64, P < 0.001). Participants rated genetically personalized comparably with conventional medicine (− 0.14−0.15−0.17, P = 0.47), with the exception of reduced adherence intention to genetically personalized medicine (Cohen’s d = −0.38−0.41−0.44, P = 0.009). This relative reluctance to take genetically personalized medicine was pronounced for racial minorities (Cohen’s d =−0.38−0.31−0.25, P = 0.02) and was related to trust in the vignette physician (change in R2 = 0.23, P < 0.001). Conclusions This study demonstrates a relative reluctance to embrace personalized medicine technology, especially among racial minorities, and highlights enhancement of adherence through improved doctor-patient relationships. PMID:21270639

  15. Ethical issues in psychiatric genetics.

    PubMed

    Appelbaum, Paul S

    2004-11-01

    As knowledge grows regarding the genetic bases of psychiatric disorders, a variety of ethical issues will need to be confronted. Current evidence suggests that the etiology of most psychiatric disorders rests on a combination of multiple genes and environmental factors. As tests for the genes involved become more easily available, pressures will arise to use them for prenatal testing, screening of children and adults, selection of potential adoptees, and pre-marital screening. Common problems that will need to be addressed include popular misunderstanding of the consequences of possessing an affected allele, impact of knowledge of one's genetic make-up on one's sense of self, and the discriminatory use of genetic information to deny persons access to insurance and employment. Although most states have some legislation aimed at preventing discrimination, the laws' coverage is spotty and federal rules are lacking. Physicians may find that newly available genetic information creates new duties for them, including warning third parties who may share the patient's genetic endowment. And genetics research itself has raised questions about when to disclose information to subjects and their family members about the genes that are being studied, and how to define the subjects of the research when information is collected about family members other than the proband. Knowledge of these dilemmas is a first step to resolving them, something that the medical profession will need to attend to in the near-term. Neglect will lead others to set the rules that will control medical practice, including the practice of psychiatry, in the new world of genetic medicine. PMID:15583515

  16. [Issues of Personalized Medicine from the Viewpoint of Laboratory Medicine].

    PubMed

    Nobori, Tsutomu

    2015-08-01

    Personalized medicine is expected to provide patients with safe and effective treatment compared to conventional medical care in which patients are treated based on the diagnosis and/or histology. In personalized medicine, patients are treated based on their genetic makeup and genetic characteristics of tumor tissues in the case of cancer chemotherapy. Genomic biomarker tests are used to molecularly characterize host and tumor tissues and stratify patients for the appropriate drugs. Drugs targeting the causative genetic changes have been developed along with companion diagnostics to test such genetic changes. In this paper, I introduce the technical guidance for companion diagnostics and related drugs issued by the Pharmaceutical and Medical Devices Agency of Japan, and discuss how to carry out a concordance study of diagnostic tests for the ALK fusion gene when new ALK inhibitors are approved. The regulations for companion diagnostics should be revised frequently to keep up with advances in this area. PMID:26638437

  17. A further validation of the Minnesota Borderline Personality Disorder Scale.

    PubMed

    Rojas, Elizabeth C; Cummings, Jenna R; Bornovalova, Marina A; Hopwood, Christopher J; Racine, Sarah E; Keel, Pamela K; Sisk, Cheryl L; Neale, Michael; Boker, Steven; Burt, S Alexandra; Klump, Kelly L

    2014-04-01

    Previous research indicates that borderline personality disorder (BPD) is well conceptualized as a dimensional construct that can be represented using normal personality traits. A previous study successfully developed and validated a BPD measure embedded within a normal trait measure, the Minnesota Borderline Personality Disorder Scale (MBPD). The current study performed a further validation of the MBPD by examining its convergent validity, external correlates, and heritability in a sample of 429 female twins. The MBPD correlated strongly with the Structured Clinical Interview for DSM-IV Axis II Personality Disorders (SCID-II) screener for BPD and moderately with external correlates. Moreover, the MBPD and SCID-II screener exhibited very similar patterns of external correlations. Additionally, results indicated that the genetic and environmental influences on MBPD overlap with the genetic and environmental influences on the SCID-II screener, which suggests that these scales are measuring the same construct. These data provide further evidence for the construct validity of the MBPD. PMID:24364505

  18. Personal Visualization and Personal Visual Analytics.

    PubMed

    Huang, Dandan; Tory, Melanie; Aseniero, Bon Adriel; Bartram, Lyn; Bateman, Scott; Carpendale, Sheelagh; Tang, Anthony; Woodbury, Robert

    2015-03-01

    Data surrounds each and every one of us in our daily lives, ranging from exercise logs, to archives of our interactions with others on social media, to online resources pertaining to our hobbies. There is enormous potential for us to use these data to understand ourselves better and make positive changes in our lives. Visualization (Vis) and visual analytics (VA) offer substantial opportunities to help individuals gain insights about themselves, their communities and their interests; however, designing tools to support data analysis in non-professional life brings a unique set of research and design challenges. We investigate the requirements and research directions required to take full advantage of Vis and VA in a personal context. We develop a taxonomy of design dimensions to provide a coherent vocabulary for discussing personal visualization and personal visual analytics. By identifying and exploring clusters in the design space, we discuss challenges and share perspectives on future research. This work brings together research that was previously scattered across disciplines. Our goal is to call research attention to this space and engage researchers to explore the enabling techniques and technology that will support people to better understand data relevant to their personal lives, interests, and needs. PMID:26357073

  19. The Genetic Information Nondiscrimination Act (GINA): A Civil Rights Victory

    ERIC Educational Resources Information Center

    Petruniak, Mark; Krokosky, Alyson; Terry, Sharon F.

    2011-01-01

    This article discusses the Genetic Information Nondiscrimination Act (GINA) which President George W. Bush officially signed in 2008. The law prohibits employers from making adverse employment decisions based on a person's genetic information, including family health history. It also forbids insurance companies from discriminating against…

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    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-30

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... HIV/AIDS, Viral Hepatitis, STD, and TB Prevention (NCHHSTP), Centers for Disease Control...

  17. 75 FR 39261 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-08

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  18. 75 FR 9900 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-04

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  19. 76 FR 22902 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-25

    ... radiographically-apparent pneumoconiosis, miners are at risk for the development of chronic obstructive pulmonary... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  20. Status of power-reactor projects undergoing licensing review

    SciTech Connect

    Silver, E.G.

    1982-07-01

    Recent regulatory and other actions relating to power reactors undergoing licensing review are summarized in Table 1 as of May 1, 1982. Except as otherwise noted, all the information presented in this article is taken from NRC press releases or from the reactor docket file, both of which are available at the NRC Public Document Room, 1717 H Street NW, Washington, DC 20555.

  1. 77 FR 6803 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-09

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information...--Pregnant Women--New--National Center for Health Statistics (NCHS), Centers for Disease Control...

  2. 76 FR 74066 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-30

    ... based/best practice programs and policies. Core VIPP also focuses on the integration of unintentional... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... comments should be received within 30 days of this notice. Proposed Project Evaluation of Core Violence...

  3. 76 FR 76413 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-07

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  4. 77 FR 58843 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-24

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  5. 75 FR 74054 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-30

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  6. Hemostatic management of patients undergoing ear-nose-throat surgery

    PubMed Central

    Thiele, Thomas; Kaftan, Holger; Hosemann, Werner; Greinacher, Andreas

    2015-01-01

    Perioperative hemostatic management is increasingly important in the field of otolaryngology. This review summarizes the key elements of perioperative risk stratification, thromboprophylaxis and therapies for bridging of antithrombotic treatment. It gives practical advice based on the current literature with focus on patients undergoing ENT surgery. PMID:26770281

  7. 75 FR 3737 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-22

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  8. 78 FR 64502 - Agency Forms Undergoing Paperwork Reduction Act

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office of...

  9. 75 FR 4824 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  10. 78 FR 26032 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-03

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Violence Survey (OMB No. 0920- 0822, exp. 11/30/2013)--Revision--National Center for Injury Prevention and... health burden of Intimate Partner Violence (IPV), Sexual Violence (SV) and stalking are substantial....

  11. 78 FR 23766 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-22

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  12. 78 FR 23767 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-22

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  13. 77 FR 47073 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-07

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  14. 75 FR 65489 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-25

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction..., which is the measurement of environmental chemicals in human tissues and fluids, to assess such exposure... public concern about chemicals found in the human body. The demand for answers and decreasing...

  15. 78 FR 20920 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-08

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... environmental or exposure information does not exist to assess human exposures and possible related health... exposed to contaminants and whether a health hazard is present. The EI team conducts point of...

  16. 75 FR 9902 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-04

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information...-borne, and Enteric Diseases (NCZVED), Centers for Disease Control and Prevention (CDC). Background...

  17. 75 FR 154 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-04

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... comments should be received within 30 days of this notice. Proposed Project Malaria Pre-travel...

  18. 78 FR 15368 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-11

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information...), Centers for Disease Control and Prevention, (CDC). Background and Brief Description Formal surveillance...

  19. 75 FR 44798 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  20. 75 FR 44795 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  1. 78 FR 14094 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-04

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  2. 78 FR 52771 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  3. 78 FR 9699 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-11

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  4. 77 FR 42314 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-07-18

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  5. 78 FR 4411 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-01-22

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  6. 77 FR 38065 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  7. 76 FR 32212 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-03

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  8. 76 FR 24885 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-03

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  9. 78 FR 13345 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-27

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  10. 78 FR 26033 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-03

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Agency Service Delivery--NEW--Epidemiology and Analysis Program Office, Office of Surveillance and Laboratory Services, Centers for Disease Control and Prevention (CDC). As part of a Federal...

  11. 77 FR 70780 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-27

    ... HUMAN SERVICES Agency for Toxic Substances and Disease Registry Agency Forms Undergoing Paperwork... the Collection of Qualitative Feedback on Agency Service Delivery-NEW-Agency for Toxic Substances and... feedback from the public on service delivery, the ATSDR has submitted a Generic Information...

  12. 75 FR 53311 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-31

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  13. 75 FR 70007 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-16

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review In compliance with the requirement of Section 3506(c)(2)(A) of the Paperwork Reduction Act of 1995 for opportunity for public comment...

  14. 76 FR 1617 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-11

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  15. 76 FR 78262 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-16

    ... will provide estimates of behavior related to the risk of HIV and other sexually transmitted diseases... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  16. 76 FR 12121 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-04

    ... behavior related to the risk of HIV and other sexually transmitted diseases, prior testing for HIV, and use... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  17. 78 FR 53461 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-29

    ... that will be used to monitor and evaluate performance of CDC funded grantees that offer Sexually... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  18. 77 FR 6802 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-09

    ... efficacious interventions to prevent infection by HIV and other sexually transmitted diseases (STDs) are... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  19. 76 FR 12359 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-07

    ... behavior related to the risk of HIV and other sexually transmitted diseases, prior testing for HIV, and use... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  20. 75 FR 67366 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-02

    ... sexually transmitted disease (STD) clinics operated by the local health departments around the country. The..., prompted CDC to update the treatment recommendations for gonorrhea in CDC's Sexually Transmitted Diseases... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  1. 78 FR 307 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-01-03

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information...) (OMB 0920-0696, Expiration 08/31/2013)--Revision--National Center for HIV/AIDS, Viral Hepatitis,...

  2. 75 FR 65355 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-22

    ... From the Federal Register Online via the Government Publishing Office ] DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  3. 77 FR 70782 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-27

    ... comprehensive assessment of all the costs associated with CRC screening, especially indirect and non-medical... patients who undergo screening by FIT or colonoscopy until it reaches a target number of responses. Targets... Indirect/Non-Medical Cost Study-- New--National Center for Chronic Disease Prevention and Health...

  4. 76 FR 66070 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-10-25

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  5. 76 FR 68465 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-04

    ... between the development of EBPs and their use, public health and cancer control organizations need to... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Paperwork Reduction Act (44 U.S.C. chapter 35). To request a copy of these requests, call the CDC...

  6. 76 FR 63924 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-10-14

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information..., and TB Prevention (NCHHSTP), Centers for Disease Control and Prevention (CDC). Background and...

  7. 76 FR 45256 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-28

    ... Cardiovascular disease is a leading cause of death and disability for men and women in the United States, among... for cardiovascular disease include high blood pressure and high cholesterol. Because over 50% of... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  8. 77 FR 76044 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  9. The Genetic Relationship between Indentical Twins.

    ERIC Educational Resources Information Center

    Herman, Rosemary

    1984-01-01

    Reviews current research on a woman's chances of bearing twins and the genetic relationship, prenatal competition, and personality similarities between twins. In addition, the nature/nurture controversy is discussed in terms of evidence from studies of identical twins reared apart. Future studies are suggested to discover the ways twinning might…

  10. Factors affecting the decision to undergo risk-reducing salpingo-oophorectomy among women with BRCA gene mutation.

    PubMed

    Kim, Dongwon; Kang, Eunyoung; Hwang, Euijun; Sun, Young; Hwang, Yoonsun; Yom, Cha Kyong; Kim, Kidong; No, Jae Hong; Kim, Yong-Beom; Kim, Sung-Won

    2013-12-01

    The objective of this study was to identify factors that affect the decision to undergo risk-reducing salpingo-oophorectomy (RRSO) in BRCA1 or BRCA2 mutations carriers in South Korea. The medical records of 124 women who had been found to have BRCA1 or BRCA2 gene mutation at our institution between May 2003 and December 2011 were reviewed. The carriers were divided into RRSO and non-RRSO groups for comparison of their clinicopathologic, socio-economic, and psychosocial factors. Of the 71 carriers eligible for RRSO, 21 had undergone RRSO. In univariate analysis, classification of carriers into 3 groups by decade of life (4th, 5th, or 6th and later decade) and subsequent analysis revealed that 52.6% of carriers in the 5th decade had undergone RRSO, a rate significantly higher than that of the other age groups (p = 0.007). The RRSO rate was higher in carriers with a personal history of breast cancer than in those without (39.2% vs. 5.0%, p = 0.004), in carriers with a family history of breast cancer than in those without (35.5% vs. 11.8%, p = 0.065), and in carriers with a family history of ovarian cancer than in those carriers without a family history (66.7% vs. 24.2%, p = 0.016). Multivariate analysis identified age and personal history of breast cancer as independent factors affecting the decision to undergo RRSO. Age and personal history of breast cancer are important factors in the decision to undergo, and should thus be considered when counseling BRCA1/2 mutation carriers. PMID:23504064

  11. Eating again: a physician's personal experience after laryngectomy.

    PubMed

    Brook, Itzhak

    2012-01-01

    This article presents the author's personal experiences in eating again after becoming a laryngectomee. He was diagnosed with hypopharyngeal carcinoma and underwent total laryngectomy with a free flap reconstruction. The personal story is told in the hope that nutritionists and other health care providers will realize the difficult challenges in obtaining adequate nutrition that a patient diagnosed with cancer who undergoes laryngectomy must face. These include the effects of radiation treatment and surgery, which create functional and anatomical changes that make swallowing difficult. PMID:22563988

  12. The big five personality traits: psychological entities or statistical constructs?

    PubMed

    Franić, Sanja; Borsboom, Denny; Dolan, Conor V; Boomsma, Dorret I

    2014-11-01

    The present study employed multivariate genetic item-level analyses to examine the ontology and the genetic and environmental etiology of the Big Five personality dimensions, as measured by the NEO Five Factor Inventory (NEO-FFI) [Costa and McCrae, Revised NEO personality inventory (NEO PI-R) and NEO five-factor inventory (NEO-FFI) professional manual, 1992; Hoekstra et al., NEO personality questionnaires NEO-PI-R, NEO-FFI: manual, 1996]. Common and independent pathway model comparison was used to test whether the five personality dimensions fully mediate the genetic and environmental effects on the items, as would be expected under the realist interpretation of the Big Five. In addition, the dimensionalities of the latent genetic and environmental structures were examined. Item scores of a population-based sample of 7,900 adult twins (including 2,805 complete twin pairs; 1,528 MZ and 1,277 DZ) on the Dutch version of the NEO-FFI were analyzed. Although both the genetic and the environmental covariance components display a 5-factor structure, applications of common and independent pathway modeling showed that they do not comply with the collinearity constraints entailed in the common pathway model. Implications for the substantive interpretation of the Big Five are discussed. PMID:24162101

  13. Personal Food System Mapping

    ERIC Educational Resources Information Center

    Wilsey, David; Dover, Sally

    2014-01-01

    Personal food system mapping is a practical means to engage community participants and educators in individualized and shared learning about food systems, decisions, and behaviors. Moreover, it is a useful approach for introducing the food system concept, which is somewhat abstract. We developed the approach to capture diversity of personal food…

  14. Evaluating Personalized Risk Messages.

    ERIC Educational Resources Information Center

    Weinstein, Neil D.; And Others

    1992-01-01

    An experiment with 766 homeowners compared 3 strategies for delivering radon test results to homeowners. Small improvements in consumer satisfaction were found for personalized messages (a telephone call or personal letter) over a form letter. No detectable improvement was found in recall of advice or compliance for any strategy. (SLD)

  15. Personal Container Artists.

    ERIC Educational Resources Information Center

    Szekely, George

    2002-01-01

    Focuses on the study of personal containers and their uses in art creation for children. States that children are fascinated by boxes and containers. Provides examples of personal containers, such as lunch boxes, pencil cases, purses and valets, and school bags. (CMK)

  16. Personal Computer Communications.

    ERIC Educational Resources Information Center

    Leclerc, Gerry

    The interconnection between personal computers and other personal, mini, or mainframe computer systems is discussed. The following topics relevant to college personnel are addressed: hardware techniques for tying computers together, advantages and disadvantages of available software, the prospects for sophisticated micro/mainframe links with major…

  17. Identifying the CBK Personality.

    ERIC Educational Resources Information Center

    Kodman, Frank

    1984-01-01

    Examined certain personality traits that might distinguish the cold-blooded killer from a normal control group, softcore inmates, hardcore inmates, a random sample of inmates, and assaultive inmates. Found significant differences among incarcerated felons (N=250) and a normal control group in certain personality traits and significant test items.…

  18. Infant Temperament and Personality.

    ERIC Educational Resources Information Center

    Honig, Alice Sterling

    Infants have definite personality characteristics from birth onward. Despite wide variation in infant temperament styles, ranging from easy to difficult, responsive parents and non-parental caregivers can ensure positive emotional-social development. This paper, which reviews various theories and research on personality development in infants and…

  19. The Power of Personality

    PubMed Central

    Roberts, Brent W.; Kuncel, Nathan R.; Shiner, Rebecca; Caspi, Avshalom; Goldberg, Lewis R.

    2015-01-01

    The ability of personality traits to predict important life outcomes has traditionally been questioned because of the putative small effects of personality. In this article, we compare the predictive validity of personality traits with that of socioeconomic status (SES) and cognitive ability to test the relative contribution of personality traits to predictions of three critical outcomes: mortality, divorce, and occupational attainment. Only evidence from prospective longitudinal studies was considered. In addition, an attempt was made to limit the review to studies that controlled for important background factors. Results showed that the magnitude of the effects of personality traits on mortality, divorce, and occupational attainment was indistinguishable from the effects of SES and cognitive ability on these outcomes. These results demonstrate the influence of personality traits on important life outcomes, highlight the need to more routinely incorporate measures of personality into quality of life surveys, and encourage further research about the developmental origins of personality traits and the processes by which these traits influence diverse life outcomes. PMID:26151971

  20. The Technological Personality

    ERIC Educational Resources Information Center

    Stivers, Richard

    2004-01-01

    If technology is the single most important factor in explaining the organization of modern societies, it is likewise the key to understanding the modern personality. The technological personality is the psychological counterpart to the technological society.Technology indirectly destroys the basis of a common morality and so leaves human…

  1. Personality Theory and TESOL

    ERIC Educational Resources Information Center

    Al Shalabi, M. Fadi; Nodoushan, Mohammad Ali Salmani

    2009-01-01

    In this paper, it is argued, based on evidence from psychological literature, that there are three major approaches to the study of personality, namely (a) situationism, (b) interactionism, and (c) constructivism. It is also noticed that these approached have resulted in the emergence of three major types of personality theories: (1) type…

  2. Personality Theory and TESOL

    ERIC Educational Resources Information Center

    Al Shalabi, M. Fadi; Salmani Nodoushan, Mohammad Ali

    2009-01-01

    In this paper, it is argued, based on evidence from psychological literature, that there are three major approaches to the study of personality, namely (1) situationism, (2) interactionism, and (3) constructivism. It is also noticed that these approaches have resulted in the emergence of three major types of personality theories: (i) type…

  3. Personal Literacy Experience.

    ERIC Educational Resources Information Center

    Knotts, Lester William

    Literacy is inextricably linked to the social context in which literacy is taught, and in which the language is used. Cultural expectations require the use of specific literacies. Who a person is, in terms of a literacy user and a literacy worker are dictated by the culture in which a person chooses to operate. Literacy is not neutral, but an…

  4. Human genetic databases and liberty.

    PubMed

    Adalsteinsson, Ragnar

    2004-01-01

    This paper examines an act of the Icelandic Parliament on health-sector databases. Both the legislation itself and the manner in which it was presented by the Government to the Parliament and the general public raise various questions about democratic parliamentary procedures, community consultation, autonomy, privacy, professional confidence, control of health data in hospitals and business relationships between medical doctors and biotechnology corporations. A major question to be asked is: In whose interest is it that such sensitive data are handed over to for-profit corporations? Furthermore, is it within the authority of the legislature to authorize politically appointed boards of health institutes to transfer such data without the direct informed consent of the patient and without the relevant physicians' having a say? Does experience teach us to entrust private companies with sensitive personal data? Should the Government be involved in the research policy-making of the biotechnology companies that have been given access to the genetic data of a population, or should the profit motive be the sole deciding influence? That is, should the interest of the shareholders of the companies prevail over the interest of underprivileged groups who are most in need of new methods or medicine to alleviate their situation due to incurable diseases? Or is the invisible hand of the market the only competent decision-maker? Finally, will the proliferation of databases containing sensitive personal data, such as human genetic data, limit our personal liberty? PMID:16755701

  5. Future directions in genetic counseling: practical and ethical considerations.

    PubMed

    Biesecker, Barbara Bowles

    1998-06-01

    The accelerated discovery of gene mutations that lead to increased risk of disease has led to the rapid development of predictive genetic tests. These tests improve the accuracy of assigning risk, but at a time when intervention or prevention strategies are largely unproved. In coming years, however, data will become increasingly available to guide treatment of genetic diseases. Eventually genetic testing will be performed for common diseases as well as for rare genetic conditions. This will challenge genetic counseling practice. The ethical principles that now guide this practice take into account the personal nature of test decision making, the need to respect individual self-determination, and the importance of client confidentiality. Certain of these principles may have to be modified as genetic testing becomes more widespread in order to meet the changing needs of clients and society. This paper offers recommendations to ensure that genetic counselors will take a leading role in the future delivery of ethical genetic services. PMID:11657426

  6. Evolving Roles for Physicians and Genetic Counselors in Managing Complex Genetic Disorders.

    PubMed

    Shelton, Celeste A; Whitcomb, David C

    2015-01-01

    Proponents of personalized medicine predict that genetic information will provide pivotal perspectives for the prevention and management of complex disorders. Personalized medicine differs from traditional Western medicine, in that it focuses on more complex disorders that require mechanistic disease modeling and outcome simulation by integrating genomic risk, environmental stressors, and biomarkers as indicators of disease state. This information could be useful to guide targeted therapy and prevent pathologic outcomes. However, gaps exist in the process of linking the pieces together; currently, genetic data are seldom used to assist physicians in clinical decision making. With rapid growth in genetic data and the requirements for new paradigms for complex disorders comes the need to train professionals to understand and manage the impact of genetic information on patients within these clinical settings. Here we describe the challenges, controversies, and opportunities for genetics and genetic counselors in managing complex disorders and discuss the rationale for modifications in genetic counselor training and function. We conclude that a major paradigm shift is underway and a compelling functional, ethical, and financial argument can be made for employing properly trained genetic counselors to be strategically positioned within the health-care industries that are responsible for managing complex disorders. PMID:26561988

  7. Evolving Roles for Physicians and Genetic Counselors in Managing Complex Genetic Disorders

    PubMed Central

    Shelton, Celeste A; Whitcomb, David C

    2015-01-01

    Proponents of personalized medicine predict that genetic information will provide pivotal perspectives for the prevention and management of complex disorders. Personalized medicine differs from traditional Western medicine, in that it focuses on more complex disorders that require mechanistic disease modeling and outcome simulation by integrating genomic risk, environmental stressors, and biomarkers as indicators of disease state. This information could be useful to guide targeted therapy and prevent pathologic outcomes. However, gaps exist in the process of linking the pieces together; currently, genetic data are seldom used to assist physicians in clinical decision making. With rapid growth in genetic data and the requirements for new paradigms for complex disorders comes the need to train professionals to understand and manage the impact of genetic information on patients within these clinical settings. Here we describe the challenges, controversies, and opportunities for genetics and genetic counselors in managing complex disorders and discuss the rationale for modifications in genetic counselor training and function. We conclude that a major paradigm shift is underway and a compelling functional, ethical, and financial argument can be made for employing properly trained genetic counselors to be strategically positioned within the health-care industries that are responsible for managing complex disorders. PMID:26561988

  8. [The interpreter role of clinical geneticist in the process of genetic testing].

    PubMed

    Franková, V

    2007-01-01

    Due to the progress in genetic research, development and rapid introduction of new genetic tests into clinical practise can be expected. This is raising many ethical issues which need to be carefully considered. First, genetic information is a familial. Thus, the test result of one person may have direct health implications for others who are genetically related. Second, the risks of genetic testing are also psychological, social and financial. Third, due to complex ways of genes interactions, genetic information often has limited predictive power. Finally, many genetic conditions remain difficult to treat or prevent, meaning the value of genetic information may be limited for altering the clinical care for the person. Given these concerns, detailed counselling and informed consent should be key aspects of genetic testing process. Genetic counselling in Czech Republic is provided by clinical geneticist. Therefore he is playing a key role in addressing these issues to patients. His second role is to interpret the genetic information revealed in genetic testing into the language understandable for patient, which means translation of genetic data into diagnosis and clinical management of individual, a transformation from statistics to physical persons. This interpretation is determining many aspects of patient's future life (future planning, reproductive decisions, prevention, health behaviour, etc.) and also family attitudes towards testing. The importance of genetic counselling, informed consent process and precise interpretation of results will be increasing over the time when new generation of genetic technologies for detecting the common conditions will be introduced into the practise. PMID:18069209

  9. Borderline Personality and Criminality

    PubMed Central

    Sansone, Lori A.

    2009-01-01

    Borderline personality disorder is characteristically associated with a broad variety of psychiatric symptoms and aberrant behaviors. In this edition of The Interface, we discuss the infrequently examined association between borderline personality disorder and criminality. According to our review of the literature, in comparison with the rates of borderline personality disorder encountered in the general population, borderline personality disorder is over-represented in most studies of inmates. At the same time, there is considerable variation in the reported rates of this Axis II disorder in prison populations, which may be attributed to the methodologies of and populations in the various studies. Overall, female criminals appear to exhibit higher rates of borderline personality disorder, and it is oftentimes associated with a history of childhood sexual abuse, perpetration of impulsive and violent crimes, comorbid antisocial traits, and incarceration for domestic violence. PMID:20011575

  10. Personality in Bonobos.

    PubMed

    Weiss, Alexander; Staes, Nicky; Pereboom, Jeffrey J M; Inoue-Murayama, Miho; Stevens, Jeroen M G; Eens, Marcel

    2015-09-01

    To better understand human and chimpanzee personality evolution, we obtained trait ratings of personality for 154 captive bonobos (~80% of the U.S. and European population). We found factors that we labeled Assertiveness, Conscientiousness, Openness, Agreeableness, Attentiveness, and Extraversion. The interrater reliabilities and test-retest reliabilities for these factors were comparable to those found in humans and other species. Using orthogonal targeted Procrustes rotations, we compared the bonobo dimensions with those of three samples of captive chimpanzees. Overall congruence coefficients indicated a fair degree of similarity; at the factor level, there was good evidence for Assertiveness, Conscientiousness, Openness, and Agreeableness in the chimpanzee samples; evidence for Attentiveness and Extraversion was poor. These findings suggest that, as expected given their close phylogenetic relationship, bonobo personality structure resembles chimpanzee personality structure in some respects. However, divergent evolution, perhaps as a result of socioecological differences between bonobos and chimpanzees, also appears to have shaped personality structure in these species. PMID:26209530

  11. Personality, relationships, and health.

    PubMed

    Markey, Charlotte N; Markey, Patrick M

    2014-12-01

    This special issue of the Journal of Personality focuses on the importance of considering both personality and relationship forces when examining physical and psychological health. The nine articles presented in this issue employed a variety of research designs, theoretical rationales, health outcomes, and advanced statistical methodologies in order to better understand how both individual differences and social factors are relevant to our health. These articles embody several prominent themes: Conscientiousness is a robust predictor of health; traits beyond the Five-Factor Model should be considered in attempts to understand personality, relationships, and health; links among personality, relationships, and health begin early in life; and relationship transitions are consequential to health. It is hoped that these studies inspire personality researchers to consider the relationship context of health and relationship researchers to consider individual differences when attempting to understand health behaviors and outcomes. PMID:24299020

  12. Personalized medicine: is it a pharmacogenetic mirage?

    PubMed Central

    Shah, Rashmi R; Shah, Devron R

    2012-01-01

    The notion of personalized medicine has developed from the application of the discipline of pharmacogenetics to clinical medicine. Although the clinical relevance of genetically-determined inter-individual differences in pharmacokinetics is poorly understood, and the genotype-phenotype association data on clinical outcomes often inconsistent, officially approved drug labels frequently include pharmacogenetic information concerning the safety and/or efficacy of a number of drugs and refer to the availability of the pharmacogenetic test concerned. Regulatory authorities differ in their approach to these issues. Evidence emerging subsequently has generally revealed the pharmacogenetic information included in the label to be premature. Revised drugs labels, together with a flurry of other collateral activities, have raised public expectations of personalized medicine, promoted as ‘the right drug at the right dose the first time.’ These expectations place the prescribing physician in a dilemma and at risk of litigation, especially when evidence-based information on genotype-related dosing schedules is to all intent and purposes non-existent and guidelines, intended to improve the clinical utility of available pharmacogenetic information or tests, distance themselves from any responsibility. Lack of efficacy or an adverse drug reaction is frequently related to non-genetic factors. Phenoconversion, arising from drug interactions, poses another often neglected challenge to any potential success of personalized medicine by mimicking genetically-determined enzyme deficiency. A more realistic promotion of personalized medicine should acknowledge current limitations and emphasize that pharmacogenetic testing can only improve the likelihood of diminishing a specific toxic effect or increasing the likelihood of a beneficial effect and that application of pharmacogenetics to clinical medicine cannot adequately predict drug response in individual patients. PMID:22591598

  13. Personalized medicine: is it a pharmacogenetic mirage?

    PubMed

    Shah, Rashmi R; Shah, Devron R

    2012-10-01

    The notion of personalized medicine has developed from the application of the discipline of pharmacogenetics to clinical medicine. Although the clinical relevance of genetically-determined inter-individual differences in pharmacokinetics is poorly understood, and the genotype-phenotype association data on clinical outcomes often inconsistent, officially approved drug labels frequently include pharmacogenetic information concerning the safety and/or efficacy of a number of drugs and refer to the availability of the pharmacogenetic test concerned. Regulatory authorities differ in their approach to these issues. Evidence emerging subsequently has generally revealed the pharmacogenetic information included in the label to be premature. Revised drugs labels, together with a flurry of other collateral activities, have raised public expectations of personalized medicine, promoted as 'the right drug at the right dose the first time.' These expectations place the prescribing physician in a dilemma and at risk of litigation, especially when evidence-based information on genotype-related dosing schedules is to all intent and purposes non-existent and guidelines, intended to improve the clinical utility of available pharmacogenetic information or tests, distance themselves from any responsibility. Lack of efficacy or an adverse drug reaction is frequently related to non-genetic factors. Phenoconversion, arising from drug interactions, poses another often neglected challenge to any potential success of personalized medicine by mimicking genetically-determined enzyme deficiency. A more realistic promotion of personalized medicine should acknowledge current limitations and emphasize that pharmacogenetic testing can only improve the likelihood of diminishing a specific toxic effect or increasing the likelihood of a beneficial effect and that application of pharmacogenetics to clinical medicine cannot adequately predict drug response in individual patients. PMID:22591598

  14. Genome Paths: A Way to Personalized and Predictive Medicine

    PubMed Central

    2009-01-01

    The review is devoted to the impact of human genome research on progress in modern medicine. Basic achievements in genome research have resulted in the deciphering of the human genome and creation of a molecular landmarks map of the human haploid genome (HapMap Project), which has made a tremendous contribution to our understanding of common genetic and multifactorial (complex) disorders. Current genome studies mainly focus on genetic testing and gene association studies of multifactorial (complex) diseases, with the purpose of their efficient diagnostics and prevention . Identification of candidate ("predisposition") genes participating in the functional genetic modules underlying each common disorder and the use of this genetic background to elaborate sophisticated measures to efficiently prevent them constitutes a major goal in personalized molecular medicine. The concept of a genetic pass as an individual DNA databank reflecting inherited human predisposition to different complex and monogenic disorders, with special emphasis on its present state, and the numerous difficulties related to the practical implementation of personalized medicine are outlined. The problems related to the uncertainness of the results of genetic testing could be overcome at least partly by means of new technological achievements in genome research methods, such as genome-wide association studies (GWAS), massive parallel DNA sequencing, and genetic and epigenetic profiling. The basic tasks of genomic today could be determined as the need to properly estimate the clinical value of genetic testing and its applicability in clinical practice. Feasible ways towards the gradual implementation of personal genetic data, in line with routine laboratory tests, for the benefit of clinical practice are discussed. PMID:22649616

  15. Personality and oral health

    PubMed Central

    Thomson, W. Murray; Caspi, Avshalom; Poulton, Richie; Moffitt, Terrie E.; Broadbent, Jonathan M.

    2013-01-01

    We investigated age-26 personality characteristics and age-32 oral health in a prospective study of a complete birth cohort born in Dunedin, New Zealand. Personality was measured using the Multidimensional Personality Questionnaire (MPQ). Oral health was measured using the short-form Oral Health Impact Profile (OHIP-14), a global measure, and dental examinations. Personality profiles were constructed for 916 individuals (50.8% men) using standardized MPQ scores, and multivariate analyses examined their association with oral health. Those reporting 1+ OHIP-14 impacts had higher Negative Emotionality scores (and lower Constraint and Positive Emotionality MPQ superfactor scores) than those who did not. After controlling for gender, clinical status, and the other two MPQ superfactors, those scoring higher on Negative Emotionality had a greater risk of reporting 1+ OHIP-14 impacts, as well as 3+ OHIP-14 impacts and worse-than-average oral health. They also had a greater risk of having lost at least one tooth from caries and of having 3+ decayed surfaces. Personality characteristics appear to shape self-reports of oral health. Personality is also a risk factor for clinical disease status, at least with respect to dental caries and its sequelae. Because the attitudes and values tapped into by personality tests can be altered by brief cognitive interventions, those might be useful in preventive dentistry. PMID:21896053

  16. Person-centered Therapeutics

    PubMed Central

    Cloninger, C. Robert; Cloninger, Kevin M.

    2015-01-01

    A clinician’s effectiveness in treatment depends substantially on his or her attitude toward -- and understanding of -- the patient as a person endowed with self-awareness and the will to direct his or her own future. The assessment of personality in the therapeutic encounter is a crucial foundation for forming an effective working alliance with shared goals. Helping a person to reflect on their personality provides a mirror image of their strengths and weaknesses in adapting to life’s many challenges. The Temperament and Character Inventory (TCI) provides an effective way to describe personality thoroughly and to predict both the positive and negative aspects of health. Strengths and weaknesses in TCI personality traits allow strong predictions of individual differences of all aspects of well-being. Diverse therapeutic techniques, such as diet, exercise, mood self-regulation, meditation, or acts of kindness, influence health and personality development in ways that are largely indistinguishable from one another or from effective allopathic treatments. Hence the development of well-being appears to be the result of activating a synergistic set of mechanisms of well-being, which are expressed as fuller functioning, plasticity, and virtue in adapting to life’s challenges PMID:26052429

  17. The Personalized Medicine Coalition: goals and strategies.

    PubMed

    Abrahams, Edward; Ginsburg, Geoffrey S; Silver, Mike

    2005-01-01

    The concept of personalized medicine--that medical care can be tailored to the genomic and molecular profile of the individual--has repercussions that extend far beyond the technology that makes it possible. The adoption of personalized medicine will require changes in healthcare infrastructure, diagnostics and therapeutics business models, reimbursement policy from government and private payers, and a different approach to regulatory oversight. Personalized medicine will shift medical practices upstream from the reactive treatment of disease, to proactive healthcare management including screening, early treatment, and prevention, and will alter the roles of both physician and patient. It will create a greater reliance on electronic medical records and decision support systems in an industry that has a long history of resistance to information technology. Personalized medicine requires a systems approach to implementation. But in a healthcare economy that is highly decentralized and market driven, it is incumbent upon the stakeholders themselves to advocate for a consistent set of policies and legislation that pave the way for the adoption of personalized medicine. To address this need, the Personalized Medicine Coalition (PMC) was formed as a nonprofit umbrella organization of pharmaceutical, biotechnology, diagnostic, and information technology companies, healthcare providers and payers, patient advocacy groups, industry policy organizations, major academic institutions, and government agencies. The PMC provides a structure for achieving consensus positions among these stakeholders on crucial public policy issues, a role which will be vital to translating personalized medicine into widespread clinical practice. In this article, we outline the goals of the PMC, and the strategies it will take to foster communication, debate, and consensus on issues such as genetic discrimination, the reimbursement structures for pharmacogenomic drugs and diagnostics, regulation

  18. Back to the Future: Personality and Assessment and Personality Development

    PubMed Central

    Roberts, Brent W.

    2009-01-01

    In this essay I consider the future of personality development in light of the past effects of Personality and Assessment on the field of personality in general and personality development in particular. The essay is organized around 1) the effect of Mischel's book on the foundational theories informing personality development; 2) definitions of personality traits; 3) an alternative model of personality traits, described as the sociogenomic model of personality traits, that can bridge the divide that still characterizes the field of personality development; 4) the application of the sociogenomic model of personality traits to issues of personality trait development, and 5) a “Newtonian” vision for the future of personality psychology. PMID:20161194

  19. Engineering Genetically Encoded FRET Sensors

    PubMed Central

    Lindenburg, Laurens; Merkx, Maarten

    2014-01-01

    Förster Resonance Energy Transfer (FRET) between two fluorescent proteins can be exploited to create fully genetically encoded and thus subcellularly targetable sensors. FRET sensors report changes in energy transfer between a donor and an acceptor fluorescent protein that occur when an attached sensor domain undergoes a change in conformation in response to ligand binding. The design of sensitive FRET sensors remains challenging as there are few generally applicable design rules and each sensor must be optimized anew. In this review we discuss various strategies that address this shortcoming, including rational design approaches that exploit self-associating fluorescent domains and the directed evolution of FRET sensors using high-throughput screening. PMID:24991940

  20. Ethical Considerations Regarding Classroom Use of Personal Genomic Information

    PubMed Central

    Parker, Lisa S.; Grubs, Robin

    2014-01-01

    Rapidly decreasing costs of genetic technologies—especially next-generation sequencing—and intensifying need for a clinical workforce trained in genomic medicine have increased interest in having students use personal genomic information to motivate and enhance genomics education. Numerous ethical issues attend classroom/pedagogical use of students’ personal genomic information, including their informed decision to participate, pressures to participate, privacy concerns, and psychosocial sequelae of learning genomic information. This paper addresses these issues, advocates explicit discussion of these issues to cultivate students’ ethical reasoning skills, suggests ways to mitigate potential harms, and recommends collection of ethically relevant data regarding pedagogical use of personal genomic information. PMID:25574277