Sample records for additional affected individuals

  1. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy

    PubMed Central

    Moreira, Danielle P.; Griesi-Oliveira, Karina; Bossolani-Martins, Ana L.; Lourenço, Naila C. V.; Takahashi, Vanessa N. O.; da Rocha, Kátia M.; Moreira, Eloisa S.; Vadasz, Estevão; Meira, Joanna Goes Castro; Bertola, Debora; Halloran, Eoghan O’; Magalhães, Tiago R.; Fett-Conte, Agnes C.; Passos-Bueno, Maria Rita

    2014-01-01

    Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy. PMID:25255310

  2. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

    PubMed

    Moreira, Danielle P; Griesi-Oliveira, Karina; Bossolani-Martins, Ana L; Lourenço, Naila C V; Takahashi, Vanessa N O; da Rocha, Kátia M; Moreira, Eloisa S; Vadasz, Estevão; Meira, Joanna Goes Castro; Bertola, Debora; O'Halloran, Eoghan; Magalhães, Tiago R; Fett-Conte, Agnes C; Passos-Bueno, Maria Rita

    2014-01-01

    Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.

  3. Latent Fairness in Adults’ Relationship-Based Moral Judgments

    PubMed Central

    Hao, Jian; Liu, Yanchun; Li, Jiafeng

    2015-01-01

    Can adults make fair moral judgments when individuals with whom they have different relationships are involved? The present study explored the fairness of adults’ relationship-based moral judgments in two respects by performing three experiments involving 999 participants. In Experiment 1, 65 adults were asked to decide whether to harm a specific person to save five strangers in the footbridge and trolley dilemmas in a within-subject design. The lone potential victim was a relative, a best friend, a person they disliked, a criminal or a stranger. Adults’ genetic relatedness to, familiarity with and affective relatedness to the lone potential victims varied. The results indicated that adults made different moral judgments involving the lone potential victims with whom they had different relationships. In Experiment 2, 306 adults responded to the footbridge and trolley dilemmas involving five types of lone potential victims in a within-subject design, and the extent to which they were familiar with and affectively related to the lone potential victim was measured. The results generally replicated those of Experiment 1. In addition, for close individuals, adults’ moral judgments were less deontological relative to their familiarity with or positive affect toward these individuals. For individuals they were not close to, adults made deontological choices to a larger extent relative to their unfamiliarity with or negative affect toward these individuals. Moreover, for familiar individuals, the extent to which adults made deontological moral judgments more closely approximated the extent to which they were familiar with the individual. The adults’ deontological moral judgments involving unfamiliar individuals more closely approximated their affective relatedness to the individuals. In Experiment 3, 628 adults were asked to make moral judgments with the type of lone potential victim as the between-subject variable. The results generally replicated those of the previous two experiments. Therefore, the present study shows that, in addition to apparent unfairness, latent fairness exists in adults’ relationship-based moral judgments. Moral judgments involving individuals with whom adults have different relationships have different cognitive and affective bases. PMID:26696935

  4. Ethical Perceptions of Accounting Students in a Portuguese University: The Influence of Individual Factors and Personal Traits

    ERIC Educational Resources Information Center

    Costa, Alberto J.; Pinheiro, Margarida M.; Ribeiro, Mariana S.

    2016-01-01

    Our purpose is to empirically examine whether gender, age, work experience, and attendance of a course on ethics affect the ethical perceptions of Portuguese accounting students and analyze the influence of some individual factors that may affect their ethical decision-making. Additionally, we consider the degree of importance assigned to a list…

  5. 34 CFR 428.22 - What additional factors does the Secretary consider?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... limited English proficiency within the affected State. (b) The Secretary may select other applications for... individuals with limited English proficiency within the affected State; or (2) Geographical distribution of...

  6. The temporal stability and predictive validity of affect-based and cognition-based intentions.

    PubMed

    Keer, Mario; Conner, Mark; Van den Putte, Bas; Neijens, Peter

    2014-06-01

    Recent research has revealed individual differences in the extent to which people base their intentions on affect and cognition. Two studies are presented that assess whether such differences predict the strength of individuals' intention-behaviour relationships. Participants completed measures of affect, cognition, intention, and behaviour regarding a range of health behaviours. Study 1 (N = 300) found that the strength of the intention-behaviour relationship was significantly related to the extent to which individuals based their intentions on affect, but not to the extent they based them on cognition. Study 2 (N = 387) replicated the findings of the first study. In addition, Study 2 revealed that intention stability mediated the relationship between the degree people based their intentions on affect and the strength of the intention-behaviour relationship. Thus, individuals who base their intentions strongly on affect have more stable intentions, and are therefore more likely to enact them. © 2013 The British Psychological Society.

  7. Relationship between Individual External Doses, Ambient Dose Rates and Individuals' Activity-Patterns in Affected Areas in Fukushima following the Fukushima Daiichi Nuclear Power Plant Accident.

    PubMed

    Naito, Wataru; Uesaka, Motoki; Yamada, Chie; Kurosawa, Tadahiro; Yasutaka, Tetsuo; Ishii, Hideki

    2016-01-01

    The accident at Fukushima Daiichi Nuclear Power Plant on March 11, 2011, released radioactive material into the atmosphere and contaminated the land in Fukushima and several neighboring prefectures. Five years after the nuclear disaster, the radiation levels have greatly decreased due to physical decay, weathering, and decontamination operations in Fukushima. The populations of 12 communities were forced to evacuate after the accident; as of March 2016, the evacuation order has been lifted in only a limited area, and permanent habitation is still prohibited in most of the areas. In order for the government to lift the evacuation order and for individuals to return to their original residential areas, it is important to assess current and future realistic individual external doses. Here, we used personal dosimeters along with the Global Positioning System and Geographic Information System to understand realistic individual external doses and to relate individual external doses, ambient doses, and activity-patterns of individuals in the affected areas in Fukushima. The results showed that the additional individual external doses were well correlated to the additional ambient doses based on the airborne monitoring survey. The results of linear regression analysis suggested that the additional individual external doses were on average about one-fifth that of the additional ambient doses. The reduction factors, which are defined as the ratios of the additional individual external doses to the additional ambient doses, were calculated to be on average 0.14 and 0.32 for time spent at home and outdoors, respectively. Analysis of the contribution of various activity patterns to the total individual external dose demonstrated good agreement with the average fraction of time spent daily in each activity, but the contribution due to being outdoors varied widely. These results are a valuable contribution to understanding realistic individual external doses and the corresponding airborne monitoring-based ambient doses and time-activity patterns of individuals. Moreover, the results provide important information for predicting future cumulative doses after the return of residents to evacuation order areas in Fukushima.

  8. Relation between premorbid personality and patterns of emotion expression in mid- to late-stage dementia.

    PubMed

    Magai, C; Cohen, C I; Culver, C; Gomberg, D; Malatesta, C

    1997-11-01

    Twenty-seven nursing home patients with mid- to late-stage dementia participated in a study of the relation between preillness personality, as indexed by attachment and emotion regulation style, and current emotional behavior. Preillness measures were completed by family members and current assessments of emotion were supplied by nursing home aides and family members; in addition, emotion was coded during a family visit using an objective coding system for facial emotion expressions. Attachment style was found to be related to the expression of positive affect, with securely attached individuals displaying more positive affect than avoidantly attached individuals. In addition, high ratings on premorbid hostility were associated with higher rates of negative affect and lower rates of positive affect. These findings indicate that premorbid aspects of personality show continuity over time, even in mid- to late-stage dementia.

  9. Relationship between Individual External Doses, Ambient Dose Rates and Individuals’ Activity-Patterns in Affected Areas in Fukushima following the Fukushima Daiichi Nuclear Power Plant Accident

    PubMed Central

    Kurosawa, Tadahiro; Yasutaka, Tetsuo; Ishii, Hideki

    2016-01-01

    The accident at Fukushima Daiichi Nuclear Power Plant on March 11, 2011, released radioactive material into the atmosphere and contaminated the land in Fukushima and several neighboring prefectures. Five years after the nuclear disaster, the radiation levels have greatly decreased due to physical decay, weathering, and decontamination operations in Fukushima. The populations of 12 communities were forced to evacuate after the accident; as of March 2016, the evacuation order has been lifted in only a limited area, and permanent habitation is still prohibited in most of the areas. In order for the government to lift the evacuation order and for individuals to return to their original residential areas, it is important to assess current and future realistic individual external doses. Here, we used personal dosimeters along with the Global Positioning System and Geographic Information System to understand realistic individual external doses and to relate individual external doses, ambient doses, and activity-patterns of individuals in the affected areas in Fukushima. The results showed that the additional individual external doses were well correlated to the additional ambient doses based on the airborne monitoring survey. The results of linear regression analysis suggested that the additional individual external doses were on average about one-fifth that of the additional ambient doses. The reduction factors, which are defined as the ratios of the additional individual external doses to the additional ambient doses, were calculated to be on average 0.14 and 0.32 for time spent at home and outdoors, respectively. Analysis of the contribution of various activity patterns to the total individual external dose demonstrated good agreement with the average fraction of time spent daily in each activity, but the contribution due to being outdoors varied widely. These results are a valuable contribution to understanding realistic individual external doses and the corresponding airborne monitoring-based ambient doses and time-activity patterns of individuals. Moreover, the results provide important information for predicting future cumulative doses after the return of residents to evacuation order areas in Fukushima. PMID:27494021

  10. Implicit Processing of Visual Emotions Is Affected by Sound-Induced Affective States and Individual Affective Traits

    PubMed Central

    Quarto, Tiziana; Blasi, Giuseppe; Pallesen, Karen Johanne; Bertolino, Alessandro; Brattico, Elvira

    2014-01-01

    The ability to recognize emotions contained in facial expressions are affected by both affective traits and states and varies widely between individuals. While affective traits are stable in time, affective states can be regulated more rapidly by environmental stimuli, such as music, that indirectly modulate the brain state. Here, we tested whether a relaxing or irritating sound environment affects implicit processing of facial expressions. Moreover, we investigated whether and how individual traits of anxiety and emotional control interact with this process. 32 healthy subjects performed an implicit emotion processing task (presented to subjects as a gender discrimination task) while the sound environment was defined either by a) a therapeutic music sequence (MusiCure), b) a noise sequence or c) silence. Individual changes in mood were sampled before and after the task by a computerized questionnaire. Additionally, emotional control and trait anxiety were assessed in a separate session by paper and pencil questionnaires. Results showed a better mood after the MusiCure condition compared with the other experimental conditions and faster responses to happy faces during MusiCure compared with angry faces during Noise. Moreover, individuals with higher trait anxiety were faster in performing the implicit emotion processing task during MusiCure compared with Silence. These findings suggest that sound-induced affective states are associated with differential responses to angry and happy emotional faces at an implicit stage of processing, and that a relaxing sound environment facilitates the implicit emotional processing in anxious individuals. PMID:25072162

  11. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Rajamanickam, Shivakumar; Jensik, Philip J.; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J.; Raghavan, Ramya; Reardon, Sara N.; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L.; Huggenvik, Jodi I.; McKnight, G. Stanley; Rose, Gregory M.; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W.M.; Lugtenberg, Dorien; de Vries, Petra F.; Veltman, Joris A.; van Bokhoven, Hans; Brunner, Han G.; Rauch, Anita; de Brouwer, Arjan P.M.; Carvill, Gemma L.; Hoischen, Alexander; Mefford, Heather C.; Eichler, Evan E.; Vissers, Lisenka E.L.M.; Menten, Björn; Collard, Michael W.; de Vries, Bert B.A.

    2014-01-01

    Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. PMID:24726472

  12. At Least I Tried: The Relationship between Regulatory Focus and Regret Following Action vs. Inaction

    PubMed Central

    Itzkin, Adi; Van Dijk, Dina; Azar, Ofer H.

    2016-01-01

    Regret is an unpleasant feeling that may arise following decisions that ended poorly, and may affect the decision-maker's well-being and future decision making. Some studies show that a decision to act leads to greater regret than a decision not to act when both resulted in failure, because the latter is usually the norm. In some cases, when the norm is to act, this pattern is reversed. We suggest that the decision maker's regulatory focus, affects regret after action or inaction. Specifically, promotion-focused individuals, who tend to be more proactive, view action as more normal than prevention-focused individuals, and therefore experience regulatory fit when an action decision is made. Hence, we hypothesized that promotion-focused individuals will feel less regret than prevention-focused individuals when a decision to act ended poorly. In addition, we hypothesized that a trigger for change implied in the situation, decreases the level of regret following action. We tested our hypotheses on a sample of 330 participants enrolled in an online survey. The participants received six decision scenarios, in which they were asked to evaluate the level of regret following action and inaction. Individual regulatory focus was measured by two different scales. Promotion-focused individuals attributed less regret than prevention-focused individuals to action decisions. Regret following inaction was not affected by regulatory focus. In addition, a trigger for change decreases regret following action. Orthodox people tend to attribute more regret than non-orthodox to a person who made an action decision. The results contribute to the literature by showing that not only the situation but also the decision maker's orientation affects the regret after action vs. inaction. PMID:27833581

  13. If and when: intrinsic differences and environmental stressors influence migration in brown trout (Salmo trutta).

    PubMed

    Peiman, Kathryn S; Birnie-Gauvin, Kim; Midwood, Jonathan D; Larsen, Martin H; Wilson, Alexander D M; Aarestrup, Kim; Cooke, Steven J

    2017-06-01

    Partial migration is a common phenomenon, yet the causes of individual differences in migratory propensity are not well understood. We examined factors that potentially influence timing of migration and migratory propensity in a wild population of juvenile brown trout (Salmo trutta) by combining experimental manipulations with passive integrated transponder telemetry. Individuals were subjected to one of six manipulations: three designed to mimic natural stressors (temperature increase, food deprivation, and chase by a simulated predator), an injection of exogenous cortisol designed to mimic an extreme physiological challenge, a sham injection, and a control group. By measuring length and mass of 923 individuals prior to manipulation and by monitoring tagged individuals as they left the stream months later, we assessed whether pre-existing differences influenced migratory tendency and timing of migration, and whether our manipulations affected growth, condition, and timing of migration. We found that pre-existing differences predicted migration, with smaller individuals and individuals in poor condition having a higher propensity to migrate. Exogenous cortisol manipulation had the largest negative effect on growth and condition, and resulted in an earlier migration date. Additionally, low-growth individuals within the temperature and food deprivation treatments migrated earlier. By demonstrating that both pre-existing differences in organism state and additional stressors can affect whether and when individuals migrate, we highlight the importance of understanding individual differences in partial migration. These effects may carry over to influence migration success and affect the evolutionary dynamics of sub-populations experiencing different levels of stress, which is particularly relevant in a changing world.

  14. Daily variability in working memory is coupled with negative affect: the role of attention and motivation.

    PubMed

    Brose, Annette; Schmiedek, Florian; Lövdén, Martin; Lindenberger, Ulman

    2012-06-01

    Across days, individuals experience varying levels of negative affect, control of attention, and motivation. We investigated whether this intraindividual variability was coupled with daily fluctuations in working memory (WM) performance. In 100 days, 101 younger individuals worked on a spatial N-back task and rated negative affect, control of attention, and motivation. Results showed that individuals differed in how reliably WM performance fluctuated across days, and that subjective experiences were primarily linked to performance accuracy. WM performance was lower on days with higher levels of negative affect, reduced control of attention, and reduced task-related motivation. Thus, variables that were found to predict WM in between-subjects designs showed important relationships to WM at the within-person level. In addition, there was shared predictive variance among predictors of WM. Days with increased negative affect and reduced performance were also days with reduced control of attention and reduced motivation to work on tasks. These findings are in line with proposed mechanisms linking negative affect and cognitive performance.

  15. Affect intensity and individual differences in informational style.

    PubMed

    Larsen, R J; Billings, D W; Cutler, S E

    1996-03-01

    Although individuals differ widely in the typical intensity of their affective experience, the mechanisms that create or maintain these differences are unclear. Larsen, Diener, and Cropanzano (1987) examined the hypothesis that individual differences in affect intensity (AI) are related to how people interpret emotional stimuli. They found that high AI individuals engaged in more personalizing and generalizing cognitions while construing emotional stimuli than low AI individuals. The present study extends these findings by examining cognitive activity during a different task-the generation of information to communicate about life events. Participants provided free-response descriptions of 16 life events. These descriptions were content coded for five informational style variables. It was found that the descriptive information generated by high AI participants contained significantly more references to emotional arousal, more focus on feelings, and more generalization compared to participants low in AI. These results are consistent with the notion that specific cognitive activity may lead to, or at least be associated with, dispositional affect intensity. In addition, the informational style variables identified in this study were stable over time and consistent across situations. Although men and women differ in AI, this difference becomes insignificant after controlling for informational style variation. Overall results are discussed in terms of a model of various psychological mechanisms that may potentially create or maintain individual differences in affect intensity.

  16. The temporal dynamics of cortisol and affective states in depressed and non-depressed individuals.

    PubMed

    Booij, Sanne H; Bos, Elisabeth H; de Jonge, Peter; Oldehinkel, Albertine J

    2016-07-01

    Cortisol levels have been related to mood disorders at the group level, but not much is known about how cortisol relates to affective states within individuals over time. We examined the temporal dynamics of cortisol and affective states in depressed and non-depressed individuals in daily life. Specifically, we addressed the direction and timing of the effects, as well as individual differences. Thirty depressed and non-depressed participants (aged 20-50 years) filled out questionnaires regarding their affect and sampled saliva three times a day for 30 days in their natural environment. They were pair-matched on age, gender, smoking behavior and body mass index. The multivariate time series (T=90) of every participant were analyzed using vector autoregressive (VAR) modeling to assess lagged effects of cortisol on affect, and vice versa. Contemporaneous effects were assessed using the residuals of the VAR models. Impulse response function analysis was used to examine the timing of effects. For 29 out of 30 participants, a VAR model could be constructed. A significant relationship between cortisol and positive or negative affect was found for the majority of the participants, but the direction, sign, and timing of the relationship varied among individuals. This approach proves to be a valuable addition to traditional group designs, because our results showed that daily life fluctuations in cortisol can influence affective states, and vice versa, but not in all individuals and in varying ways. Future studies may examine whether these individual differences relate to susceptibility for or progression of mood disorders. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. [Knowledge of family members on the rights of individuals affected by mental illness].

    PubMed

    Moreno, Vania; Barbosa, Guilherme Correa

    2015-03-01

    The objective of this investigation was to understand what family members know about the rights of individuals affected by mental illness. To this end, a qualitative exploratory study was conducted. A semi-structured interview was used for data collection. Eighteen family members were interviewed at a psychosocial care center (CAPS) and a civil society organization (CSO) located in a municipality in the state of São Paulo, Brazil, between March and September 2013. Data were analyzed using thematic content analysis and the following categories were constructed: mental health services and the rights of individuals affected by mental illness. We were able to infer that in addition to drug-based therapy, mental health services must provide therapeutic activities. Family members of those affected by mental illness were unaware of the Brazilian Psychiatric Reform Law and mentioned the following rights: welfare benefits, free public transport, basic food basket and medications.

  18. Factors Affecting Self-Esteem and Self-Efficacy in the Unemployed

    ERIC Educational Resources Information Center

    Maddy, Luther M., III

    2013-01-01

    Unemployment is, and will likely continue to be, a problem in industrialized nations. Numerous studies have concluded unemployment negatively impacts self-esteem and self-efficacy. Additional studies have shown that unemployed individuals with lower self-esteem and self-efficacy tend to remain unemployed longer than individuals with higher…

  19. Predicting short-term positive affect in individuals with social anxiety disorder: The role of selected personality traits and emotion regulation strategies.

    PubMed

    Weisman, Jaclyn S; Rodebaugh, Thomas L; Lim, Michelle H; Fernandez, Katya C

    2015-08-01

    Recently, research has provided support for a moderate, inverse relationship between social anxiety and dispositional positive affect. However, the dynamics of this relationship remain poorly understood. The present study evaluates whether certain personality traits and emotion regulation variables predict short-term positive affect for individuals with social anxiety disorder and healthy controls. Positive affect as measured by two self-report instruments was assessed before and after two tasks in which the participant conversed with either a friend or a romantic partner. Tests of models examining the hypothesized prospective predictors revealed that the paths did not differ significantly across diagnostic group and both groups showed the hypothesized patterns of endorsement for the emotion regulation variables. Further, a variable reflecting difficulty redirecting oneself when distressed prospectively predicted one measure of positive affect. Additional research is needed to explore further the role of emotion regulation strategies on positive emotions for individuals higher in social anxiety. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

    PubMed

    Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A

    2014-05-01

    Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  1. The affective profiles, psychological well-being, and harmony: environmental mastery and self-acceptance predict the sense of a harmonious life

    PubMed Central

    Al Nima, Ali; Kjell, Oscar N.E.

    2014-01-01

    Background. An important outcome from the debate on whether wellness equals happiness, is the need of research focusing on how psychological well-being might influence humans’ ability to adapt to the changing environment and live in harmony. To get a detailed picture of the influence of positive and negative affect, the current study employed the affective profiles model in which individuals are categorised into groups based on either high positive and low negative affect (self-fulfilling); high positive and high negative affect (high affective); low positive and low negative affect (low affective); and high negative and low positive affect (self-destructive). The aims were to (1) investigate differences between affective profiles in psychological well-being and harmony and (2) how psychological well-being and its dimensions relate to harmony within the four affective profiles. Method. 500 participants (mean age = 34.14 years, SD. = ±12.75 years; 187 males and 313 females) were recruited online and required to answer three self-report measures: The Positive Affect and Negative Affect Schedule; The Scales of Psychological Well-Being (short version) and The Harmony in Life Scale. We conducted a Multivariate Analysis of Variance where the affective profiles and gender were the independent factors and psychological well-being composite score, its six dimensions as well as the harmony in life score were the dependent factors. In addition, we conducted four multi-group (i.e., the four affective profiles) moderation analyses with the psychological well-being dimensions as predictors and harmony in life as the dependent variables. Results. Individuals categorised as self-fulfilling, as compared to the other profiles, tended to score higher on the psychological well-being dimensions: positive relations, environmental mastery, self-acceptance, autonomy, personal growth, and purpose in life. In addition, 47% to 66% of the variance of the harmony in life was explained by the dimensions of psychological well-being within the four affective profiles. Specifically, harmony in life was significantly predicted by environmental mastery and self-acceptance across all affective profiles. However, for the low affective group high purpose in life predicted low levels of harmony in life. Conclusions. The results demonstrated that affective profiles systematically relate to psychological well-being and harmony in life. Notably, individuals categorised as self-fulfilling tended to report higher levels of both psychological well-being and harmony in life when compared with the other profiles. Meanwhile individuals in the self-destructive group reported the lowest levels of psychological well-being and harmony when compared with the three other profiles. It is proposed that self-acceptance and environmental acceptance might enable individuals to go from self-destructive to a self-fulfilling state that also involves harmony in life. PMID:24688843

  2. Individual Characteristics Influencing Physicians’ Perceptions of Job Demands and Control: The Role of Affectivity, Work Engagement and Workaholism

    PubMed Central

    Mazzetti, Greta; Biolcati, Roberta; Guglielmi, Dina; Vallesi, Caryn; Schaufeli, Wilmar B.

    2016-01-01

    The first purpose of the present study was to investigate the role of individual characteristics, i.e., positive and negative affectivity, in explaining the different perception of job control and job demands in a particularly demanding environment such as the healthcare setting. In addition, we aimed to explore the mediational role of work engagement and workaholism using the Job Demands-Resources Model as a theoretical framework. Data were collected using a sample of 269 Italian head physicians working in nine general hospitals. To test our hypotheses, the collected data were analyzed with structural equation modeling. Moreover, Sobel Test and bootstrapping were employed to assess the mediating hypotheses. Our results indicated that positive affectivity is related to work engagement, which, in its turn, showed a positive association with job control. In addition, workaholism mediated the relationship between negative affectivity and job demands. All in all, this study represents a first attempt to explore the role of trait affectivity as a dispositional characteristic able to foster the level of work engagement and workaholism exhibited by employees and, in turn, to increase the perceived levels of job control and job demands. PMID:27275828

  3. Individual Characteristics Influencing Physicians' Perceptions of Job Demands and Control: The Role of Affectivity, Work Engagement and Workaholism.

    PubMed

    Mazzetti, Greta; Biolcati, Roberta; Guglielmi, Dina; Vallesi, Caryn; Schaufeli, Wilmar B

    2016-06-06

    The first purpose of the present study was to investigate the role of individual characteristics, i.e., positive and negative affectivity, in explaining the different perception of job control and job demands in a particularly demanding environment such as the healthcare setting. In addition, we aimed to explore the mediational role of work engagement and workaholism using the Job Demands-Resources Model as a theoretical framework. Data were collected using a sample of 269 Italian head physicians working in nine general hospitals. To test our hypotheses, the collected data were analyzed with structural equation modeling. Moreover, Sobel Test and bootstrapping were employed to assess the mediating hypotheses. Our results indicated that positive affectivity is related to work engagement, which, in its turn, showed a positive association with job control. In addition, workaholism mediated the relationship between negative affectivity and job demands. All in all, this study represents a first attempt to explore the role of trait affectivity as a dispositional characteristic able to foster the level of work engagement and workaholism exhibited by employees and, in turn, to increase the perceived levels of job control and job demands.

  4. Implications of weight-based stigma and self-bias on quality of life among individuals with Schizophrenia

    PubMed Central

    Barber, Jessica; Palmese, Laura; Reutenauer, Erin L.; Grilo, Carlos; Tek, Cenk

    2011-01-01

    Obesity has been associated with significant stigma and weight-related self-bias in community and clinical studies, but these issues have not been studied among individuals with schizophrenia. A consecutive series of 70 obese individuals with schizophrenia or schizoaffective disorder underwent assessment for perceptions of weight-based stigmatization, self-directed weight-bias, negative affect, medication compliance, and quality of life. Levels of weight-based stigmatization and self-bias were compared to levels reported for non-psychiatric overweight/obese samples. Weight measures were unrelated to stigma, self-bias, affect, and quality of life. Weight-based stigmatization was lower than published levels for non-psychiatric samples, whereas levels of weight-based self-bias did not differ. After controlling for negative affect, weight-based self-bias predicted an additional 11% of the variance in the quality of life measure. Individuals with schizophrenia and schizoaffective disorder reported weight-based self-bias to the same extent as non-psychiatric samples despite reporting less weight stigma. Weight-based self-bias was associated with poorer quality of life after controlling for negative affect. PMID:21716053

  5. Perspectives of healthcare providers and HIV-affected individuals and couples during the development of a Safer Conception Counseling Toolkit in Kenya: stigma, fears, and recommendations for the delivery of services.

    PubMed

    Mmeje, Okeoma; Njoroge, Betty; Akama, Eliud; Leddy, Anna; Breitnauer, Brooke; Darbes, Lynae; Brown, Joelle

    2016-01-01

    Reproduction is important to many HIV-affected individuals and couples and healthcare providers (HCPs) are responsible for providing resources to help them safely conceive while minimizing the risk of sexual and perinatal HIV transmission. In order to fulfill their reproductive goals, HIV-affected individuals and their partners need access to information regarding safer methods of conception. The objective of this qualitative study was to develop a Safer Conception Counseling Toolkit that can be used to train HCPs and counsel HIV-affected individuals and couples in HIV care and treatment clinics in Kenya. We conducted a two-phased qualitative study among HCPs and HIV-affected individuals and couples from eight HIV care and treatment sites in Kisumu, Kenya. We conducted in-depth interviews (IDIs) and focus group discussions (FGDs) to assess the perspectives of HCPs and HIV-affected individuals and couples in order to develop and refine the content of the Toolkit. Subsequently, IDIs were conducted among HCPs who were trained using the Toolkit and FGDs among HIV-affected individuals and couples who were counseled with the Toolkit. HIV-related stigma, fears, and recommendations for delivery of safer conception counseling were assessed during the discussions. One hundred and six individuals participated in FGDs and IDIs; 29 HCPs, 49 HIV-affected women and men, and 14 HIV-serodiscordant couples. Participants indicated that a safer conception counseling and training program for HCPs is needed and that routine provision of safer conception counseling may promote maternal and child health by enhancing reproductive autonomy among HIV-affected couples. They also reported that the Toolkit may help dispel the stigma and fears associated with reproduction in HIV-affected couples, while supporting them in achieving their reproductive goals. Additional research is needed to evaluate the Safer Conception Toolkit in order to support its implementation and use in HIV care and treatment programs in Kenya and other HIV endemic regions of sub-Saharan Africa.

  6. Touch increases autonomic coupling between romantic partners

    PubMed Central

    Chatel-Goldman, Jonas; Congedo, Marco; Jutten, Christian; Schwartz, Jean-Luc

    2014-01-01

    Interpersonal touch is of paramount importance in human social bonding and close relationships, allowing a unique channel for affect communication. So far the effect of touch on human physiology has been studied at an individual level. The present study aims at extending the study of affective touch from isolated individuals to truly interacting dyads. We have designed an ecological paradigm where romantic partners interact only via touch and we manipulate their empathic states. Simultaneously, we collected their autonomic activity (skin conductance, pulse, respiration). Fourteen couples participated to the experiment. We found that interpersonal touch increased coupling of electrodermal activity between the interacting partners, regardless the intensity and valence of the emotion felt. In addition, physical touch induced strong and reliable changes in physiological states within individuals. These results support an instrumental role of interpersonal touch for affective support in close relationships. Furthermore, they suggest that touch alone allows the emergence of a somatovisceral resonance between interacting individuals, which in turn is likely to form the prerequisites for emotional contagion and empathy. PMID:24734009

  7. Different reference frames can lead to different hand transplantation decisions by patients and physicians.

    PubMed

    Edgell, S E; McCabe, S J; Breidenbach, W C; Neace, W P; LaJoie, A S; Abell, T D

    2001-03-01

    Different frames of reference can affect one's assessment of the value of hand transplantation. This can result in different yet rational decisions by different groups of individuals, especially patients and physicians. In addition, factors other than frames of reference can affect one's evaluation of hand transplantation, which can result in different decisions.

  8. The Ratio between Positive and Negative Affect and Flourishing Mental Health across Adulthood

    PubMed Central

    Diehl, Manfred; Hay, Elizabeth L.; Berg, Kathleen M.

    2011-01-01

    Using data from a 30-day diary study with 239 adults (81 young, 81 middle-aged, and 77 older adults) this study examined whether a specific ratio between positive and negative affect distinguished individuals with different mental health status and especially flourishing from non-flourishing individuals. In addition, the study addressed whether there were age differences in the positivity ratio when daily affect data were used, and whether the proposed critical positivity ratio of 2.9 discriminated equally well between individuals with different mental health status across the adult lifespan. Findings showed that the ratio of positive to negative affect differed across adulthood such that age was associated with an increasing preponderance of positive to negative affect. The positivity ratio was also associated with mental health status in the hypothesized direction; higher positivity ratios were associated with better mental health. Finally, although the data supported the notion of a positivity ratio of 2.9 as a “critical value” in young adulthood, this value did not equally well discriminate the mental health status of middle-aged and older adults. PMID:21562989

  9. Compulsory Schooling Laws and Migration Across European Countries.

    PubMed

    Aparicio Fenoll, Ainhoa; Kuehn, Zoë

    2017-12-01

    Educational attainment is a key factor for understanding why some individuals migrate and others do not. Compulsory schooling laws, which determine an individual's minimum level of education, can potentially affect migration. We test whether and how increasing the length of compulsory schooling influences migration of affected cohorts across European countries, a context where labor mobility is essentially free. We construct a novel database that includes information for 31 European countries on compulsory education reforms passed between 1950 and 1990. Combining this data with information on recent migration flows by cohorts, we find that an additional year of compulsory education reduces the number of individuals from affected cohorts who migrate in a given year by 9 %. Our results rely on the exogeneity of compulsory schooling laws. A variety of empirical tests indicate that European legislators did not pass compulsory education reforms as a reaction to changes in emigration rates or educational attainment.

  10. Genetics Home Reference: Cockayne syndrome

    MedlinePlus

    ... a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can ... named? Additional Information & Resources MedlinePlus (4 links) Drug: Metronidazole Oral Encyclopedia: Failure to Thrive Encyclopedia: Microcephaly Health ...

  11. Rare variants in RTEL1 are associated with familial interstitial pneumonia.

    PubMed

    Cogan, Joy D; Kropski, Jonathan A; Zhao, Min; Mitchell, Daphne B; Rives, Lynette; Markin, Cheryl; Garnett, Errine T; Montgomery, Keri H; Mason, Wendi R; McKean, David F; Powers, Julia; Murphy, Elissa; Olson, Lana M; Choi, Leena; Cheng, Dong-Sheng; Blue, Elizabeth Marchani; Young, Lisa R; Lancaster, Lisa H; Steele, Mark P; Brown, Kevin K; Schwarz, Marvin I; Fingerlin, Tasha E; Schwartz, David A; Lawson, William E; Loyd, James E; Zhao, Zhongming; Phillips, John A; Blackwell, Timothy S

    2015-03-15

    Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP); however, the genetic basis of FIP remains uncertain in most families. To determine if new disease-causing rare genetic variants could be identified using whole-exome sequencing of affected members from FIP families, providing additional insights into disease pathogenesis. Affected subjects from 25 kindreds were selected from an ongoing FIP registry for whole-exome sequencing from genomic DNA. Candidate rare variants were confirmed by Sanger sequencing, and cosegregation analysis was performed in families, followed by additional sequencing of affected individuals from another 163 kindreds. We identified a potentially damaging rare variant in the gene encoding for regulator of telomere elongation helicase 1 (RTEL1) that segregated with disease and was associated with very short telomeres in peripheral blood mononuclear cells in 1 of 25 families in our original whole-exome sequencing cohort. Evaluation of affected individuals in 163 additional kindreds revealed another eight families (4.7%) with heterozygous rare variants in RTEL1 that segregated with clinical FIP. Probands and unaffected carriers of these rare variants had short telomeres (<10% for age) in peripheral blood mononuclear cells and increased T-circle formation, suggesting impaired RTEL1 function. Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis.

  12. Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Paglinauan, C.; Haines, J.L.; Del Bono, E.A.

    1995-05-01

    The pigment-dispersion syndrome is a form of open-angle glaucoma that usually affects individuals in the first 3 decades of life. In addition to the typical optic-nerve degeneration seen in all types of glaucoma, the pigment-dispersion syndrome is characterized by distinctive clinical features including the deposition of pigment granules from the iris epithelium on a variety of ocular structures including the trabecular meshwork. Frequently this disorder affects young myopic individuals. In the early stages of the disease, affected individuals may have clinical evidence of dispersed pigment without an associated elevation of intraocular pressure and optic-nerve degeneration. However, as the disease processmore » progresses, many affected individuals ({approximately}50%) will develop elevated intraocular pressure and degeneration of the optic nerve, causing a permanent loss of sight. The pigment-dispersion syndrome shares several clinical features with the form of autosomal dominant juvenile open-angle glaucoma that recently has been mapped to the 1q21-q31 region of chromosome 1. Our results indicate that the pigment-dispersion syndrome, a form of glaucoma that may also affect the juvenile population, is genetically unrelated to the autosomal dominant form of juvenile glaucoma caused by a defect in a gene located in the 1q21-q31 region of chromosome 1. 15 refs., 2 figs., 1 tab.« less

  13. Framing and Claiming: How Information-Framing Affects Expected Social Security Claiming Behavior

    PubMed Central

    Brown, Jeffrey R.; Kapteyn, Arie; Mitchell, Olivia S.

    2017-01-01

    This paper provides evidence that Social Security benefit claiming decisions are strongly affected by framing and are thus inconsistent with expected utility theory. Using a randomized experiment that controls for both observable and unobservable differences across individuals, we find that the use of a “breakeven analysis” encourages early claiming. Respondents are more likely to delay when later claiming is framed as a gain, and the claiming age is anchored at older ages. Additionally, the financially less literate, individuals with credit card debt, and those with lower earnings are more influenced by framing than others. PMID:28579641

  14. Framing and Claiming: How Information-Framing Affects Expected Social Security Claiming Behavior.

    PubMed

    Brown, Jeffrey R; Kapteyn, Arie; Mitchell, Olivia S

    2016-03-01

    This paper provides evidence that Social Security benefit claiming decisions are strongly affected by framing and are thus inconsistent with expected utility theory. Using a randomized experiment that controls for both observable and unobservable differences across individuals, we find that the use of a "breakeven analysis" encourages early claiming. Respondents are more likely to delay when later claiming is framed as a gain, and the claiming age is anchored at older ages. Additionally, the financially less literate, individuals with credit card debt, and those with lower earnings are more influenced by framing than others.

  15. The Effect of an Educational Program for Persons with Macular Degeneration: A Pilot Study

    ERIC Educational Resources Information Center

    Smith, Theresa Marie; Thomas, Kimberly; Dow, Katherine

    2009-01-01

    Macular degeneration is the leading cause of vision loss in the United States for persons aged 60 and older. Compared to individuals without disabilities, individuals with low vision demonstrate a 15% to 30% higher dependence on others to perform activities of daily living. In addition, low vision can adversely affect a person's quality of life.…

  16. Relationships, environment, and the brain: how emerging research is changing what we know about the impact of families on human development.

    PubMed

    Patterson, Jo Ellen; Vakili, Susanna

    2014-03-01

    Recent research is providing family therapists with new information about the complex interaction between an individual's biological makeup and his/her social and physical environment. Family and social relationships, particularly during sensitive periods early in life, can affect a child's biological foundation. Additionally, stress during the early years can have a lasting effect on an individual's physical and mental health and contribute to the onset of severe mental illness. Community programs have been developed to intervene early with families who have an at-risk child to prevent or minimize the onset of mental illness including providing partnerships with at-risk mothers of infants to shape attachment relationships. Programs are also developing individual and family interventions to prevent the onset of psychosis. Practicing family therapists can incorporate emerging neuroscience and early intervention research and leverage the growing base of community programs to enhance the effectiveness and sustainability of mental health outcomes for clients. Additionally, family therapy education programs should broaden student training to incorporate the growing body of information about how family relationships affect individual mental health development. © 2013 FPI, Inc.

  17. Contrasting effects of nitrogen and phosphorus addition on soil respiration in an alpine grassland on the Qinghai-Tibetan Plateau

    PubMed Central

    Ren, Fei; Yang, Xiaoxia; Zhou, Huakun; Zhu, Wenyan; Zhang, Zhenhua; Chen, Litong; Cao, Guangmin; He, Jin-Sheng

    2016-01-01

    High soil organic carbon content, extensive root biomass, and low nutrient availability make alpine grasslands an important ecosystem for assessing the influence of nutrient enrichment on soil respiration (SR). We conducted a four-year (2009–2012) field experiment in an alpine grassland on the Qinghai-Tibetan Plateau to examine the individual and combined effects of nitrogen (N, 100 kg ha−1year−1) and phosphorus (P, 50 kg ha−1year−1) addition on SR. We found that both N and P addition did not affect the overall growing-season SR but effects varied by year: with N addition SR increased in the first year but decreased during the last two years. However, while P addition did not affect SR during the first two years, SR increased during the last two years. No interactive effects of N and P addition were observed, and both N addition and P addition reduced heterotrophic respiration during the last year of the experiment. N and P addition affected SR via different processes: N mainly affected heterotrophic respiration, whereas P largely influenced autotrophic respiration. Our results highlight the divergent effects of N and P addition on SR and address the important potential of P enrichment for regulating SR and the carbon balance in alpine grasslands. PMID:27721415

  18. Behavioral and neural indices of affective coloring for neutral social stimuli

    PubMed Central

    Schaefer, Stacey M; Lapate, Regina C; Schoen, Andrew J; Gresham, Lauren K; Mumford, Jeanette A; Davidson, Richard J

    2018-01-01

    Abstract Emotional processing often continues beyond the presentation of emotionally evocative stimuli, which can result in affective biasing or coloring of subsequently encountered events. Here, we describe neural correlates of affective coloring and examine how individual differences in affective style impact the magnitude of affective coloring. We conducted functional magnetic resonance imaging in 117 adults who passively viewed negative, neutral and positive pictures presented 2 s prior to neutral faces. Brain responses to neutral faces were modulated by the valence of preceding pictures, with greater activation for faces following negative (vs positive) pictures in the amygdala, dorsomedial and lateral prefrontal cortex, ventral visual cortices, posterior superior temporal sulcus, and angular gyrus. Three days after the magnetic resonance imaging scan, participants rated their memory and liking of previously encountered neutral faces. Individuals higher in trait positive affect and emotional reappraisal rated faces as more likable when preceded by emotionally arousing (negative or positive) pictures. In addition, greater amygdala responses to neutral faces preceded by positively valenced pictures were associated with greater memory for these faces 3 days later. Collectively, these results reveal individual differences in how emotions spill over onto the processing of unrelated social stimuli, resulting in persistent and affectively biased evaluations of such stimuli. PMID:29447377

  19. Genetics Home Reference: hypomyelination and congenital cataract

    MedlinePlus

    ... have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties ( ... need support, and they usually do not have peripheral neuropathy. Learn more about the gene associated with hypomyelination ...

  20. Char syndrome: an additional family with polythelia, a new finding.

    PubMed

    Zannolli, R; Mostardini, R; Matera, M; Pucci, L; Gelb, B D; Morgese, G

    2000-11-27

    This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome. Copyright 2000 Wiley-Liss, Inc.

  1. Message framing in social networking sites.

    PubMed

    Kao, Danny Tengti; Chuang, Shih-Chieh; Wang, Sui-Min; Zhang, Lei

    2013-10-01

    Online social networking sites represent significant new opportunities for Internet advertisers. However, results based on the real world cannot be generalized to all virtual worlds. In this research, the moderating effects of need for cognition (NFC) and knowledge were applied to examine the impact of message framing on attitudes toward social networking sites. A total of 216 undergraduates participated in the study. Results reveal that for social networking sites, while high-NFC individuals form more favorable attitudes toward negatively framed messages than positively framed messages, low-NFC individuals form more favorable attitudes toward positively framed messages than negatively framed messages. In addition, low-knowledge individuals demonstrate more favorable attitudes toward negatively framed messages than positively framed messages; however, the framing effect does not differentially affect the attitudes of high-knowledge individuals. Furthermore, the framing effect does not differentially affect the attitudes of high-NFC individuals with high knowledge. In contrast, low-NFC individuals with low knowledge hold more favorable attitudes toward positively framed messages than negatively framed messages.

  2. Tune yourself in: Valence and arousal preferences in music-listening choices from adolescence to old age.

    PubMed

    Cohrdes, Caroline; Wrzus, Cornelia; Frisch, Simon; Riediger, Michaela

    2017-09-01

    In previous studies, older as compared with younger individuals were more strongly motivated to regulate their momentary affect toward pleasant and calm states. Whether these motivational differences are also reflected in regulatory behavior and whether this behavior is efficient in terms of affect change, however, is unclear. To address these issues, we conducted 3 studies with samples ranging in age from adolescence to old adulthood. In Study 1, we developed a novel and age-fair music browsing paradigm for music of diverse musical styles, dates of origin, and affective characteristics. The time spent listening to self-selected music with varying levels of valence and arousal served as an indicator of affect-regulatory preferences in 2 different affectively relevant situations, namely after mood induction in Study 2 and before an upcoming discussion with a stranger in Study 3. As predicted, we found a higher preference for music with positive valence and low arousal in older as compared with younger individuals in both studies. Additionally, the efficacy of music listening as an affect-regulatory strategy was supported because individuals' current affect significantly changed from before to after music listening (Studies 2 and 3), whereas that was not the case in an active control group listening to neutral nonmusical sounds (Study 3). These results extend previous research on affect regulation by demonstrating the utility of the music browsing paradigm as a behavioral indicator of affect-regulatory preferences in individuals from various age groups. They also provide evidence for age differences in, and affect-regulatory effects of, music-choice behavior. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  3. Genetics Home Reference: Carney complex

    MedlinePlus

    ... addition, some affected individuals have at least one blue-black mole called a blue nevus. Related Information What does it mean if ... Carney Syndrome LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome NAME - Nevi, atrial myxoma, skin myxoma, ...

  4. Correction of Population Stratification in Large Multi-Ethnic Association Studies

    PubMed Central

    Serre, David; Montpetit, Alexandre; Paré, Guillaume; Engert, James C.; Yusuf, Salim; Keavney, Bernard; Hudson, Thomas J.; Anand, Sonia

    2008-01-01

    Background The vast majority of genetic risk factors for complex diseases have, taken individually, a small effect on the end phenotype. Population-based association studies therefore need very large sample sizes to detect significant differences between affected and non-affected individuals. Including thousands of affected individuals in a study requires recruitment in numerous centers, possibly from different geographic regions. Unfortunately such a recruitment strategy is likely to complicate the study design and to generate concerns regarding population stratification. Methodology/Principal Findings We analyzed 9,751 individuals representing three main ethnic groups - Europeans, Arabs and South Asians - that had been enrolled from 154 centers involving 52 countries for a global case/control study of acute myocardial infarction. All individuals were genotyped at 103 candidate genes using 1,536 SNPs selected with a tagging strategy that captures most of the genetic diversity in different populations. We show that relying solely on self-reported ethnicity is not sufficient to exclude population stratification and we present additional methods to identify and correct for stratification. Conclusions/Significance Our results highlight the importance of carefully addressing population stratification and of carefully “cleaning” the sample prior to analyses to obtain stronger signals of association and to avoid spurious results. PMID:18196181

  5. Narrating personality change.

    PubMed

    Lodi-Smith, Jennifer; Geise, Aaron C; Roberts, Brent W; Robins, Richard W

    2009-03-01

    The present research investigated the longitudinal relations between personality traits and narratives. Specifically, the authors examined how individual differences in 170 college students' narratives of personality change (a) were predicted by personality traits at the beginning of college, (b) related to actual changes and perceived changes in personality traits during college, and (c) related to changes in emotional health during college. Individual differences in narratives of personality trait change told in the 4th year of college fell into 2 dimensions: affective processing, characterized by positive emotions, and exploratory processing, characterized by meaning making and causal processing. Conscientious, open, and extraverted freshmen told exploratory stories of change as seniors. Emotionally healthy freshmen told stories of change that were high in positive affect. Both positive affective and exploratory stories corresponded to change in emotional stability and conscientiousness during college above and beyond the effects of perceived changes in these traits. In addition, both positive affective and exploratory narratives corresponded to increases in emotional health during college independent of the effects of changes in personality traits. These findings improve our understanding of how individuals conceptualize their changing identity over time.

  6. Genotypic Characterization of Human Immunodeficiency Virus Type 1 Derived from Antiretroviral Drug-Treated Individuals Residing in Earthquake-Affected Areas in Nepal.

    PubMed

    Negi, Bharat Singh; Kotaki, Tomohiro; Joshi, Sunil Kumar; Bastola, Anup; Nakazawa, Minato; Kameoka, Masanori

    2017-09-01

    Molecular epidemiological data on human immunodeficiency virus type 1 (HIV-1) are limited in Nepal and have not been available in areas affected by the April 2015 earthquake. Therefore, we conducted a genotypic study on HIV-1 genes derived from individuals on antiretroviral therapy residing in 14 districts in Nepal highly affected by the earthquake. HIV-1 genomic fragments were amplified from 40 blood samples of HIV treatment-failure individuals, and a sequencing analysis was performed on these genes. In the 40 samples, 29 protease, 32 reverse transcriptase, 25 gag, and 21 env genes were sequenced. HIV-1 subtyping revealed that subtype C (84.2%, 32/38) was the major subtype prevalent in the region, while CRF01_AE (7.9%, 3/38) and other recombinant forms (7.9%, 3/38) were also detected. In addition, major drug resistance mutations were identified in 21.9% (7/32) of samples, indicating the possible emergence of HIV-1 drug resistance in earthquake-affected areas in Nepal.

  7. Narrating Personality Change

    PubMed Central

    Lodi-Smith, Jennifer; Geise, Aaron C.; Roberts, Brent W.; Robins, Richard W.

    2009-01-01

    The present research investigated the longitudinal relations between personality traits and narratives. Specifically, the authors examined how individual differences in 170 college students' narratives of personality change (a) were predicted by personality traits at the beginning of college, (b) related to actual changes and perceived changes in personality traits during college, and (c) related to changes in emotional health during college. Individual differences in narratives of personality trait change told in the 4th year of college fell into 2 dimensions: affective processing, characterized by positive emotions, and exploratory processing, characterized by meaning making and causal processing. Conscientious, open, and extraverted freshmen told exploratory stories of change as seniors. Emotionally healthy freshmen told stories of change that were high in positive affect. Both positive affective and exploratory stories corresponded to change in emotional stability and conscientiousness during college above and beyond the effects of perceived changes in these traits. In addition, both positive affective and exploratory narratives corresponded to increases in emotional health during college independent of the effects of changes in personality traits. These findings improve our understanding of how individuals conceptualize their changing identity over time. PMID:19254112

  8. Emotional display rules as work unit norms: a multilevel analysis of emotional labor among nurses.

    PubMed

    Diefendorff, James M; Erickson, Rebecca J; Grandey, Alicia A; Dahling, Jason J

    2011-04-01

    Emotional labor theory has conceptualized emotional display rules as shared norms governing the expression of emotions at work. Using a sample of registered nurses working in different units of a hospital system, we provided the first empirical evidence that display rules can be represented as shared, unit-level beliefs. Additionally, controlling for the influence of dispositional affectivity, individual-level display rule perceptions, and emotion regulation, we found that unit-level display rules are associated with individual-level job satisfaction. We also showed that unit-level display rules relate to burnout indirectly through individual-level display rule perceptions and emotion regulation strategies. Finally, unit-level display rules also interacted with individual-level dispositional affectivity to predict employee use of emotion regulation strategies. We discuss how future research on emotional labor and display rules, particularly in the health care setting, can build on these findings.

  9. Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    PubMed Central

    Lines, Matthew A.; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L.; Lynch, Danielle C.; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Geneviève; Horn, Denise; Kini, Usha; Caliebe, Almuth; Alanay, Yasemin; Utine, Gulen Eda; Lev, Dorit; Kohlhase, Jürgen; Grix, Arthur W.; Lohmann, Dietmar R.; Hehr, Ute; Böhm, Detlef; Majewski, Jacek; Bulman, Dennis E.; Wieczorek, Dagmar; Boycott, Kym M.

    2012-01-01

    Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EFTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the first multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome. PMID:22305528

  10. Automatic processing of facial affects in patients with borderline personality disorder: associations with symptomatology and comorbid disorders.

    PubMed

    Donges, Uta-Susan; Dukalski, Bibiana; Kersting, Anette; Suslow, Thomas

    2015-01-01

    Instability of affects and interpersonal relations are important features of borderline personality disorder (BPD). Interpersonal problems of individuals suffering from BPD might develop based on abnormalities in the processing of facial affects and high sensitivity to negative affective expressions. The aims of the present study were to examine automatic evaluative shifts and latencies as a function of masked facial affects in patients with BPD compared to healthy individuals. As BPD comorbidity rates for mental and personality disorders are high, we investigated also the relationships of affective processing characteristics with specific borderline symptoms and comorbidity. Twenty-nine women with BPD and 38 healthy women participated in the study. The majority of patients suffered from additional Axis I disorders and/or additional personality disorders. In the priming experiment, angry, happy, neutral, or no facial expression was briefly presented (for 33 ms) and masked by neutral faces that had to be evaluated. Evaluative decisions and response latencies were registered. Borderline-typical symptomatology was assessed with the Borderline Symptom List. In the total sample, valence-congruent evaluative shifts and delays of evaluative decision due to facial affect were observed. No between-group differences were obtained for evaluative decisions and latencies. The presence of comorbid anxiety disorders was found to be positively correlated with evaluative shifting owing to masked happy primes, regardless of baseline-neutral or no facial expression condition. The presence of comorbid depressive disorder, paranoid personality disorder, and symptoms of social isolation and self-aggression were significantly correlated with response delay due to masked angry faces, regardless of baseline. In the present affective priming study, no abnormalities in the automatic recognition and processing of facial affects were observed in BPD patients compared to healthy individuals. The presence of comorbid anxiety disorders could make patients more susceptible to the influence of a happy expression on judgment processes at an automatic processing level. Comorbid depressive disorder, paranoid personality disorder, and symptoms of social isolation and self-aggression may enhance automatic attention allocation to threatening facial expressions in BPD. Increased automatic vigilance for social threat stimuli might contribute to affective instability and interpersonal problems in specific patients with BPD.

  11. Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia

    PubMed Central

    Cogan, Joy D.; Zhao, Min; Mitchell, Daphne B.; Rives, Lynette; Markin, Cheryl; Garnett, Errine T.; Montgomery, Keri H.; Mason, Wendi R.; McKean, David F.; Powers, Julia; Murphy, Elissa; Olson, Lana M.; Choi, Leena; Cheng, Dong-Sheng; Blue, Elizabeth Marchani; Young, Lisa R.; Lancaster, Lisa H.; Steele, Mark P.; Brown, Kevin K.; Schwarz, Marvin I.; Fingerlin, Tasha E.; Schwartz, David A.; Lawson, William E.; Loyd, James E.; Zhao, Zhongming; Phillips, John A.; Blackwell, Timothy S.

    2015-01-01

    Rationale: Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP); however, the genetic basis of FIP remains uncertain in most families. Objectives: To determine if new disease-causing rare genetic variants could be identified using whole-exome sequencing of affected members from FIP families, providing additional insights into disease pathogenesis. Methods: Affected subjects from 25 kindreds were selected from an ongoing FIP registry for whole-exome sequencing from genomic DNA. Candidate rare variants were confirmed by Sanger sequencing, and cosegregation analysis was performed in families, followed by additional sequencing of affected individuals from another 163 kindreds. Measurements and Main Results: We identified a potentially damaging rare variant in the gene encoding for regulator of telomere elongation helicase 1 (RTEL1) that segregated with disease and was associated with very short telomeres in peripheral blood mononuclear cells in 1 of 25 families in our original whole-exome sequencing cohort. Evaluation of affected individuals in 163 additional kindreds revealed another eight families (4.7%) with heterozygous rare variants in RTEL1 that segregated with clinical FIP. Probands and unaffected carriers of these rare variants had short telomeres (<10% for age) in peripheral blood mononuclear cells and increased T-circle formation, suggesting impaired RTEL1 function. Conclusions: Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis. PMID:25607374

  12. Interactive effects of trait and state affect on top-down control of attention

    PubMed Central

    Hur, Juyoen; Miller, Gregory A.; McDavitt, Jenika R.B.; Spielberg, Jeffrey M.; Crocker, Laura D.; Infantolino, Zachary P.; Towers, David N.; Warren, Stacie L.

    2015-01-01

    Few studies have investigated how attentional control is affected by transient affective states while taking individual differences in affective traits into consideration. In this study, participants completed a color-word Stroop task immediately after undergoing a positive, neutral or negative affective context manipulation (ACM). Behavioral performance was unaffected by any ACM considered in isolation. For individuals high in trait negative affect (NA), performance was impaired by the negative but not the positive or neutral ACM. Neuroimaging results indicate that activity in primarily top-down control regions of the brain (inferior frontal gyrus and dorsal anterior cingulate cortex) was suppressed in the presence of emotional arousal (both negative and positive ACMs). This effect appears to have been exacerbated or offset by co-occurring activity in other top-down control regions (parietal) and emotion processing regions (orbitofrontal cortex, amygdala and nucleus accumbens) as a function of the valence of state affect (positive or negative) and trait affect (trait NA or trait PA). Neuroimaging results are consistent with behavioral findings. In combination, they indicate both additive and interactive influences of trait and state affect on top-down control of attention. PMID:25556211

  13. The relationship between personality and the response to acute psychological stress.

    PubMed

    Xin, Yuanyuan; Wu, Jianhui; Yao, Zhuxi; Guan, Qing; Aleman, André; Luo, Yuejia

    2017-12-04

    The present study examined the relationship between personality traits and the response to acute psychological stress induced by a standardized laboratory stress induction procedure (the Trier Social Stress Test, TSST). The stress response was measured with a combination of cardiovascular reactivity, hypothalamic-pituitary-adrenal axis reactivity, and subjective affect (including positive affect, negative affect and subjective controllability) in healthy individuals. The Generalized Estimating Equations (GEE) approach was applied to account for the relationship between personality traits and stress responses. Results suggested that higher neuroticism predicted lower heart rate stress reactivity, lower cortisol stress response, more decline of positive affect and lower subjective controllability. Individuals higher in extraversion showed smaller cortisol activation to stress and less increase of negative affect. In addition, higher openness score was associated with lower cortisol stress response. These findings elucidate that neuroticism, extraversion and openness are important variables associated with the stress response and different dimensions of personality trait are associated with different aspects of the stress response.

  14. A new look at emotion perception: Concepts speed and shape facial emotion recognition.

    PubMed

    Nook, Erik C; Lindquist, Kristen A; Zaki, Jamil

    2015-10-01

    Decades ago, the "New Look" movement challenged how scientists thought about vision by suggesting that conceptual processes shape visual perceptions. Currently, affective scientists are likewise debating the role of concepts in emotion perception. Here, we utilized a repetition-priming paradigm in conjunction with signal detection and individual difference analyses to examine how providing emotion labels-which correspond to discrete emotion concepts-affects emotion recognition. In Study 1, pairing emotional faces with emotion labels (e.g., "sad") increased individuals' speed and sensitivity in recognizing emotions. Additionally, individuals with alexithymia-who have difficulty labeling their own emotions-struggled to recognize emotions based on visual cues alone, but not when emotion labels were provided. Study 2 replicated these findings and further demonstrated that emotion concepts can shape perceptions of facial expressions. Together, these results suggest that emotion perception involves conceptual processing. We discuss the implications of these findings for affective, social, and clinical psychology. (c) 2015 APA, all rights reserved).

  15. Relationship between individual differences in functional connectivity and facial-emotion recognition abilities in adults with traumatic brain injury.

    PubMed

    Rigon, A; Voss, M W; Turkstra, L S; Mutlu, B; Duff, M C

    2017-01-01

    Although several studies have demonstrated that facial-affect recognition impairment is common following moderate-severe traumatic brain injury (TBI), and that there are diffuse alterations in large-scale functional brain networks in TBI populations, little is known about the relationship between the two. Here, in a sample of 26 participants with TBI and 20 healthy comparison participants (HC) we measured facial-affect recognition abilities and resting-state functional connectivity (rs-FC) using fMRI. We then used network-based statistics to examine (A) the presence of rs-FC differences between individuals with TBI and HC within the facial-affect processing network, and (B) the association between inter-individual differences in emotion recognition skills and rs-FC within the facial-affect processing network. We found that participants with TBI showed significantly lower rs-FC in a component comprising homotopic and within-hemisphere, anterior-posterior connections within the facial-affect processing network. In addition, within the TBI group, participants with higher emotion-labeling skills showed stronger rs-FC within a network comprised of intra- and inter-hemispheric bilateral connections. Findings indicate that the ability to successfully recognize facial-affect after TBI is related to rs-FC within components of facial-affective networks, and provide new evidence that further our understanding of the mechanisms underlying emotion recognition impairment in TBI.

  16. Combating the sting of rejection with the pleasure of revenge: A new look at how emotion shapes aggression.

    PubMed

    Chester, David S; DeWall, C Nathan

    2017-03-01

    How does emotion explain the relationship between social rejection and aggression? Rejection reliably damages mood, leaving individuals motivated to repair their negatively valenced affective state. Retaliatory aggression is often a pleasant experience. Rejected individuals may then harness revenge's associated positive affect to repair their mood. Across 6 studies (total N = 1,516), we tested the prediction that the rejection-aggression link is motivated by expected and actual mood repair. Further, we predicted that this mood repair would occur through the positive affect of retaliatory aggression. Supporting these predictions, naturally occurring (Studies 1 and 2) and experimentally manipulated (Studies 3 and 4) motives to repair mood via aggression moderated the rejection-aggression link. These effects were mediated by sadistic impulses toward finding aggression pleasant (Studies 2 and 4). Suggesting the occurrence of actual mood repair, rejected participants' affective states were equivalent to their accepted counterparts after an act of aggression (Studies 5 and 6). This mood repair occurred through a dynamic interplay between preaggression affect and aggression itself, and was driven by increases in positive affect (Studies 5 and 6). Together, these findings suggest that the rejection-aggression link is driven, in part, by the desire to return to affective homeostasis. Additionally, these findings implicate aggression's rewarding nature as an incentive for rejected individuals' violent tendencies. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  17. Does the Addition of Hip Strengthening to a Knee-Focused Exercise Program Improve Outcomes in Patients With Patellofemoral Pain Syndrome?

    PubMed

    Bloomer, Ben A; Durall, Chris J

    2015-11-01

    Patellofemoral pain syndrome (PFPS) is one of the most common disorders affecting the lower extremities. To improve function and decrease pain, affected individuals often undergo a guided rehabilitation program. Traditional programs have concentrated on quadriceps strengthening and other knee-focused exercises, but recent literature suggests that adding hip-muscle strengthening may improve outcomes. This review was conducted to determine the extent to which current evidence supports the addition of hip-muscle strengthening to a knee-focused strengthening and stretching program in the treatment of PFPS. Focused Clinical Question: Does the addition of hip-muscle strengthening to a knee-focused strengthening and stretching program improve outcomes in patients with PFPS?

  18. Teaching about Heterogeneous Response Models

    ERIC Educational Resources Information Center

    Murray, Michael P.

    2014-01-01

    Individuals vary in their responses to incentives and opportunities. For example, additional education will affect one person differently than another. In recent years, econometricians have given increased attention to such heterogeneous responses and to the consequences of such responses for interpreting regression estimates, especially…

  19. Moving and Learning in Every Way. Profiles/Elizabeth O'Brien.

    ERIC Educational Resources Information Center

    Rife, Frank

    1982-01-01

    A physical education teacher's approach to orchestrating individual and group learning is described. Cognitive and affective learning are stressed in addition to physical skill development. Creative use of learning resources--milk cartons, "direction boxes," and newspapers--is illustrated. (PP)

  20. To provide additional housing assistance for certain individuals and households adversely affected by a major disaster.

    THOMAS, 111th Congress

    Rep. Hinchey, Maurice D. [D-NY-22

    2009-06-26

    House - 06/29/2009 Referred to the Subcommittee on Economic Development, Public Buildings and Emergency Management. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

  1. Genetic Diagnosis in Consanguineous Families With Kidney Disease by Homozygosity Mapping Coupled With Whole-Exome Sequencing

    PubMed Central

    Al-Romaih, Khaldoun I.; Genovese, Giulio; Al-Mojalli, Hamad; Al-Othman, Saleh; Al-Manea, Hadeel; Al-Suleiman, Mohammed; Al-Jondubi, Mohammed; Atallah, Nourah; Al-Rodhyan, Maha; Weins, Astrid; Pollak, Martin R.; Adra, Chaker N.

    2011-01-01

    Background Accurate diagnosis of the primary cause of an individual’s kidney disease can be essential for proper management. Some kidney diseases have overlapping histopathological features despite being caused by defects in different genes. In this report we describe two consanguineous Saudi Arabian families in which individuals presented with kidney failure and mixed clinical and histological features initially thought consistent with focal segmental glomerulosclerosis. Study Design Case series. Setting and participants We studied members of two apparently unrelated families from Saudi Arabia with kidney disease. Measurements Whole-genome single-nucleotide polymorphism analysis followed by targeted isolation and sequencing of exons using genomic DNA samples from affected members of these families, followed by additional focused genotyping and sequence analysis. Results The two apparently unrelated families shared a region of homozygosity on chromosome 2q13. Exome sequence from the affected individuals lacked any sequence reads from the NPHP1 gene, which is located within this homozygous region. Additional PCR based genotyping confirmed that affected individuals had NPHP1 deletions, rather than defects in a known FSGS-associated gene. Limitations The methods used here may not result in a clear genetic diagnosis in many cases of apparent familial kidney disease. Conclusions This analysis demonstrates the power of new high-throughput genotyping and sequencing technologies to aid in the rapid genetic diagnosis of individuals with an inherited form of kidney disease. We believe it is likely that such tools may become useful clinical genetic tools and alter the manner in which diagnoses are made in nephrology. PMID:21658830

  2. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

    PubMed

    Jones, Kaylie D; Wheaton, Dianna K; Bowne, Sara J; Sullivan, Lori S; Birch, David G; Chen, Rui; Daiger, Stephen P

    2017-01-01

    With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. Family members underwent comprehensive visual function evaluations, and genetic counseling including a detailed family history. A preliminary genetic inheritance pattern was assigned and updated as additional family members were tested. Family 1 (FAM1) and Family 2 (FAM2) were clinically diagnosed with retinitis pigmentosa (RP) and had a suspected autosomal dominant pedigree with non-penetrance (n.p.). Family 3 (FAM3) consisted of a large family with a diagnosis of RP and an overall dominant pedigree, but the proband had phenotypically cone-rod dystrophy. Initial genetic analysis was performed on one family member with traditional Sanger single gene sequencing and/or panel-based testing, and ultimately, retinal gene-targeted NGS was required to identify the underlying cause of disease for individuals within the three families. Results obtained in these families necessitated further genetic and clinical testing of additional family members to determine the complex genetic and phenotypic etiology of each family. Genetic testing of FAM1 (n = 4 affected; 1 n.p.) identified a dominant mutation in RP1 (p.Arg677Ter) that was present for two of the four affected individuals but absent in the proband and the presumed non-penetrant individual. Retinal gene-targeted NGS in the fourth affected family member revealed compound heterozygous mutations in USH2A (p. Cys419Phe, p.Glu767Serfs*21). Genetic testing of FAM2 (n = 3 affected; 1 n.p.) identified three retinal dystrophy genes ( PRPH2 , PRPF8 , and USH2A ) with disease-causing mutations in varying combinations among the affected family members. Genetic testing of FAM3 (n = 7 affected) identified a mutation in PRPH2 (p.Pro216Leu) tracking with disease in six of the seven affected individuals. Additional retinal gene-targeted NGS testing determined that the proband also harbored a multiple exon deletion in the CRX gene likely accounting for her cone-rod phenotype; her son harbored only the mutation in CRX , not the familial mutation in PRPH2 . Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted NGS. Families with noted examples of phenotypic variation or apparent non-penetrant individuals may offer a clue to suspect complex inheritance. Furthermore, this finding underscores that caution should be taken when attributing a single gene disease-causing mutation (or inheritance pattern) to a family as a whole. Identification of a disease-causing mutation in a proband, even with a clear inheritance pattern in hand, may not be sufficient for targeted, known mutation analysis in other family members.

  3. Epidemics spread in heterogeneous populations

    NASA Astrophysics Data System (ADS)

    Capała, Karol; Dybiec, Bartłomiej

    2017-05-01

    Individuals building populations are subject to variability. This variability affects progress of epidemic outbreaks, because individuals tend to be more or less resistant. Individuals also differ with respect to their recovery rate. Here, properties of the SIR model in inhomogeneous populations are studied. It is shown that a small change in model's parameters, e.g. recovery or infection rate, can substantially change properties of final states which is especially well-visible in distributions of the epidemic size. In addition to the epidemic size and radii distributions, the paper explores first passage time properties of epidemic outbreaks.

  4. Are there meaningful individual differences in temporal inconsistency in self-reported personality?

    PubMed

    Soubelet, Andrea; Salthouse, Timothy A; Oishi, Shigehiro

    2014-11-01

    The current project had three goals. The first was to examine whether it is meaningful to refer to across-time variability in self-reported personality as an individual differences characteristic. The second was to investigate whether negative affect was associated with variability in self-reported personality, while controlling for mean levels, and correcting for measurement errors. The third goal was to examine whether variability in self-reported personality would be larger among young adults than among older adults, and whether the relation of variability with negative affect would be stronger at older ages than at younger ages. Two moderately large samples of participants completed the International Item Pool Personality questionnaire assessing the Big Five personality dimensions either twice or thrice, in addition to several measures of negative affect. Results were consistent with the hypothesis that within-person variability in self-reported personality is a meaningful individual difference characteristic. Some people exhibited greater across-time variability than others after removing measurement error, and people who showed temporal instability in one trait also exhibited temporal instability across the other four traits. However, temporal variability was not related to negative affect, and there was no evidence that either temporal variability or its association with negative affect varied with age.

  5. The interplay between feedback-related negativity and individual differences in altruistic punishment: An EEG study.

    PubMed

    Mothes, Hendrik; Enge, Sören; Strobel, Alexander

    2016-04-01

    To date, the interplay betwexen neurophysiological and individual difference factors in altruistic punishment has been little understood. To examine this issue, 45 individuals participated in a Dictator Game with punishment option while the feedback-related negativity (FRN) was derived from the electroencephalogram (EEG). Unlike previous EEG studies on the Dictator Game, we introduced a third party condition to study the effect of fairness norm violations in addition to employing a first person perspective. For the first time, we also examined the role of individual differences, specifically fairness concerns, positive/negative affectivity, and altruism/empathy as well as recipients' financial situation during altruistic punishment. The main results show that FRN amplitudes were more pronounced for unfair than for fair assignments in both the first person and third party perspectives. These findings suggest that FRN amplitudes are sensitive to fairness norm violations and play a crucial role in the recipients' evaluation of dictator assignments. With respect to individual difference factors, recipients' current financial situation affected the FRN fairness effect in the first person perspective, indicating that when being directly affected by the assignments, more affluent participants experienced stronger violations of expectations in altruistic punishment decisions. Regarding individual differences in trait empathy, in the third party condition FRN amplitudes were more pronounced for those who scored lower in empathy. This may suggest empathy as another motive in third party punishment. Independent of the perspective taken, higher positive affect was associated with more punishment behavior, suggesting that positive emotions may play an important role in restoring violated fairness norms.

  6. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

    PubMed

    Lines, Matthew A; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L; Lynch, Danielle C; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Geneviève; Horn, Denise; Kini, Usha; Caliebe, Almuth; Alanay, Yasemin; Utine, Gulen Eda; Lev, Dorit; Kohlhase, Jürgen; Grix, Arthur W; Lohmann, Dietmar R; Hehr, Ute; Böhm, Detlef; Majewski, Jacek; Bulman, Dennis E; Wieczorek, Dagmar; Boycott, Kym M

    2012-02-10

    Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EFTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the first multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  7. Education and Training Issues Related to Major Disasters

    DTIC Science & Technology

    2005-11-04

    Mississippi that were affected by Hurricane Katrine would be permitted to reduce their academic year from 30 weeks of instructional time to 26 weeks... hurricanes . In addition, it is estimated that approximately 30 institutions of higher education (IHEs) in the affected areas have been severely damaged...of Hurricanes Katrina and Rita on employment probably resulted in the loss of between 293,000 and 480,000 jobs. Many of these individuals will not

  8. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

    PubMed

    Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P; Becker, Troy A; Ben-Shachar, Shay; Bertola, Debora R; Blakeley, Jaishri O; Burkitt-Wright, Emma M M; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S; Cunningham, Mitch; D'Agostino, Maria D; Dahan, Karin; De Luca, Alessandro; Destrée, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D Gareth R; Galvin-Parton, Patricia; George-Abraham, Jaya K; Gripp, Karen W; Guevara-Campos, Jose; Hanchard, Neil A; Hernández-Chico, Concepcion; Immken, LaDonna; Janssens, Sandra; Jones, Kristi J; Keena, Beth A; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J; Maystadt, Isabelle; McDougall, Carey; McEntagart, Meriel; Mendelsohn, Nancy; Miller, David T; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R; Pond, Dinel; Rosenbaum, Kenneth; Rubin, Karol; Russell, Laura; Rutledge, Lane S; Saletti, Veronica; Schonberg, Rhonda; Schreiber, Allison; Seidel, Meredith; Siqveland, Elizabeth; Stockton, David W; Trevisson, Eva; Ullrich, Nicole J; Upadhyaya, Meena; van Minkelen, Rick; Verhelst, Helene; Wallace, Margaret R; Yap, Yoon-Sim; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Martin, Yolanda; Korf, Bruce R; Legius, Eric; Messiaen, Ludwine M

    2018-01-04

    Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect ∼0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the management and genetic counseling of a significant number of individuals. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  9. Interactive effects of trait and state affect on top-down control of attention.

    PubMed

    Hur, Juyoen; Miller, Gregory A; McDavitt, Jenika R B; Spielberg, Jeffrey M; Crocker, Laura D; Infantolino, Zachary P; Towers, David N; Warren, Stacie L; Heller, Wendy

    2015-08-01

    Few studies have investigated how attentional control is affected by transient affective states while taking individual differences in affective traits into consideration. In this study, participants completed a color-word Stroop task immediately after undergoing a positive, neutral or negative affective context manipulation (ACM). Behavioral performance was unaffected by any ACM considered in isolation. For individuals high in trait negative affect (NA), performance was impaired by the negative but not the positive or neutral ACM. Neuroimaging results indicate that activity in primarily top-down control regions of the brain (inferior frontal gyrus and dorsal anterior cingulate cortex) was suppressed in the presence of emotional arousal (both negative and positive ACMs). This effect appears to have been exacerbated or offset by co-occurring activity in other top-down control regions (parietal) and emotion processing regions (orbitofrontal cortex, amygdala and nucleus accumbens) as a function of the valence of state affect (positive or negative) and trait affect (trait NA or trait PA). Neuroimaging results are consistent with behavioral findings. In combination, they indicate both additive and interactive influences of trait and state affect on top-down control of attention. © The Author (2015). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

  10. Gaze direction differentially affects avoidance tendencies to happy and angry faces in socially anxious individuals.

    PubMed

    Roelofs, Karin; Putman, Peter; Schouten, Sonja; Lange, Wolf-Gero; Volman, Inge; Rinck, Mike

    2010-04-01

    Increasing evidence indicates that eye gaze direction affects the processing of emotional faces in anxious individuals. However, the effects of eye gaze direction on the behavioral responses elicited by emotional faces, such as avoidance behavior, remain largely unexplored. We administered an Approach-Avoidance Task (AAT) in high (HSA) and low socially anxious (LSA) individuals. All participants responded to photographs of angry, happy and neutral faces (presented with direct and averted gaze), by either pushing a joystick away from them (avoidance) or pulling it towards them (approach). Compared to LSA, HSA were faster in avoiding than approaching angry faces. Most crucially, this avoidance tendency was only present when the perceived anger was directed towards the subject (direct gaze) and not when the gaze of the face-stimulus was averted. In contrast, HSA individuals tended to avoid happy faces irrespectively of gaze direction. Neutral faces elicited no approach-avoidance tendencies. Thus avoidance of angry faces in social anxiety as measured by AA-tasks reflects avoidance of subject-directed anger and not of negative stimuli in general. In addition, although both anger and joy are considered to reflect approach-related emotions, gaze direction did not affect HSA's avoidance of happy faces, suggesting differential mechanisms affecting responses to happy and angry faces in social anxiety. 2009 Elsevier Ltd. All rights reserved.

  11. Genomic diagnosis for children with intellectual disability and/or developmental delay.

    PubMed

    Bowling, Kevin M; Thompson, Michelle L; Amaral, Michelle D; Finnila, Candice R; Hiatt, Susan M; Engel, Krysta L; Cochran, J Nicholas; Brothers, Kyle B; East, Kelly M; Gray, David E; Kelley, Whitley V; Lamb, Neil E; Lose, Edward J; Rich, Carla A; Simmons, Shirley; Whittle, Jana S; Weaver, Benjamin T; Nesmith, Amy S; Myers, Richard M; Barsh, Gregory S; Bebin, E Martina; Cooper, Gregory M

    2017-05-30

    Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). Pathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11.3%). We found that a family history of neurological disease, especially the presence of an affected first-degree relative, reduces the pathogenic/likely pathogenic variant identification rate, reflecting both the disease relevance and ease of interpretation of de novo variants. We also found that improvements to genetic knowledge facilitated interpretation changes in many cases. Through systematic reanalyses, we have thus far reclassified 15 variants, with 11.3% of families who initially were found to harbor a VUS and 4.7% of families with a negative result eventually found to harbor a pathogenic or likely pathogenic variant. To further such progress, the data described here are being shared through ClinVar, GeneMatcher, and dbGaP. Our data strongly support the value of large-scale sequencing, especially WGS within proband-parent trios, as both an effective first-choice diagnostic tool and means to advance clinical and research progress related to pediatric neurological disease.

  12. Cognitive determinants of affective forecasting errors

    PubMed Central

    Hoerger, Michael; Quirk, Stuart W.; Lucas, Richard E.; Carr, Thomas H.

    2011-01-01

    Often to the detriment of human decision making, people are prone to an impact bias when making affective forecasts, overestimating the emotional consequences of future events. The cognitive processes underlying the impact bias, and methods for correcting it, have been debated and warrant further exploration. In the present investigation, we examined both individual differences and contextual variables associated with cognitive processing in affective forecasting for an election. Results showed that the perceived importance of the event and working memory capacity were both associated with an increased impact bias for some participants, whereas retrieval interference had no relationship with bias. Additionally, an experimental manipulation effectively reduced biased forecasts, particularly among participants who were most distracted thinking about peripheral life events. These findings have direct theoretical implications for understanding the impact bias, highlight the importance of individual differences in affective forecasting, and have ramifications for future decision making research. The possible functional role of the impact bias is discussed within the context of evolutionary psychology. PMID:21912580

  13. Predictors of urge to smoke under stressful conditions: An experimental investigation utilizing the PASAT-C task to induce negative affect in smokers.

    PubMed

    Karekla, Maria; Panayiotou, Georgia; Collins, Bradley N

    2017-11-01

    Experimental evidence has demonstrated that the presence of cues previously associated with smoking behavior can increase urges to smoke in abstinent smokers. This study examined the effect of a laboratory-induced negative affective task (paced auditory serial addition task) on smoking urges among a sample of 35 abstinent college smokers (Mage = 20.83 years, SD = 1.71). Emotional states and physiological reactions experienced during the experiment, as well as individual differences in stress intolerance (anxiety sensitivity and experiential avoidance) were examined as predictors of the association between stressful states and smoking cravings. Smoking urges (smoking desire and negative affect relief) and negative emotions (frustration, irritability, stress) significantly increased, whereas positive emotions decreased from pre- to posttask. No significant interactions between individual differences and changes in urge were found. Results suggest that changes in negative affect may in part explain the association between induced stress and smoking cravings. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  14. Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data

    PubMed Central

    Powell, Joseph E.; Henders, Anjali K.; McRae, Allan F.; Kim, Jinhee; Hemani, Gibran; Martin, Nicholas G.; Dermitzakis, Emmanouil T.; Gibson, Greg

    2013-01-01

    There is increasing evidence that heritable variation in gene expression underlies genetic variation in susceptibility to disease. Therefore, a comprehensive understanding of the similarity between relatives for transcript variation is warranted—in particular, dissection of phenotypic variation into additive and non-additive genetic factors and shared environmental effects. We conducted a gene expression study in blood samples of 862 individuals from 312 nuclear families containing MZ or DZ twin pairs using both pedigree and genotype information. From a pedigree analysis we show that the vast majority of genetic variation across 17,994 probes is additive, although non-additive genetic variation is identified for 960 transcripts. For 180 of the 960 transcripts with non-additive genetic variation, we identify expression quantitative trait loci (eQTL) with dominance effects in a sample of 339 unrelated individuals and replicate 31% of these associations in an independent sample of 139 unrelated individuals. Over-dominance was detected and replicated for a trans association between rs12313805 and ETV6, located 4MB apart on chromosome 12. Surprisingly, only 17 probes exhibit significant levels of common environmental effects, suggesting that environmental and lifestyle factors common to a family do not affect expression variation for most transcripts, at least those measured in blood. Consistent with the genetic architecture of common diseases, gene expression is predominantly additive, but a minority of transcripts display non-additive effects. PMID:23696747

  15. Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data.

    PubMed

    Powell, Joseph E; Henders, Anjali K; McRae, Allan F; Kim, Jinhee; Hemani, Gibran; Martin, Nicholas G; Dermitzakis, Emmanouil T; Gibson, Greg; Montgomery, Grant W; Visscher, Peter M

    2013-05-01

    There is increasing evidence that heritable variation in gene expression underlies genetic variation in susceptibility to disease. Therefore, a comprehensive understanding of the similarity between relatives for transcript variation is warranted--in particular, dissection of phenotypic variation into additive and non-additive genetic factors and shared environmental effects. We conducted a gene expression study in blood samples of 862 individuals from 312 nuclear families containing MZ or DZ twin pairs using both pedigree and genotype information. From a pedigree analysis we show that the vast majority of genetic variation across 17,994 probes is additive, although non-additive genetic variation is identified for 960 transcripts. For 180 of the 960 transcripts with non-additive genetic variation, we identify expression quantitative trait loci (eQTL) with dominance effects in a sample of 339 unrelated individuals and replicate 31% of these associations in an independent sample of 139 unrelated individuals. Over-dominance was detected and replicated for a trans association between rs12313805 and ETV6, located 4MB apart on chromosome 12. Surprisingly, only 17 probes exhibit significant levels of common environmental effects, suggesting that environmental and lifestyle factors common to a family do not affect expression variation for most transcripts, at least those measured in blood. Consistent with the genetic architecture of common diseases, gene expression is predominantly additive, but a minority of transcripts display non-additive effects.

  16. Positive affect protects against deficient safety learning during extinction of fear of movement-related pain in healthy individuals scoring relatively high on trait anxiety.

    PubMed

    Meulders, Ann; Meulders, Michel; Vlaeyen, Johan W S

    2014-06-01

    From a treatment perspective, it is highly relevant to pinpoint individual vulnerability factors for resistance to exposure treatment in highly fearful chronic pain patients. Previous fear conditioning research showed that healthy individuals scoring relatively high on trait anxiety display sustained fear to safety cues during extinction. In the context of fear of movement-related pain, this intriguing question has been largely neglected so far. Even more importantly, positive psychological traits such as trait positive affect may function as protective factors against the spreading of fear to safe movements and improve exposure treatment outcomes. In this study, healthy participants completed a trait anxiety and trait positive affect questionnaire and underwent acquisition and extinction of fear of movement-related pain using an experimental voluntary movement paradigm. During acquisition, one movement (CS+) was paired with a painful stimulus and another movement was not (CS-). During extinction, the CS+ was no longer reinforced. Results show failure of fear inhibition to the CS- during extinction in healthy individuals scoring relatively high on trait anxiety or relatively low on positive affect. These findings seem to suggest that safety learning is more vulnerable in healthy people with a high anxious disposition and/or relatively lower levels of positive affect. In addition, this is the first study to show that the negative impact of high trait anxiety on fear inhibition to safety cues during extinction can be countered by high levels of positive affect. These findings may have important clinical implications. Both low positive affect and high trait anxiety are associated with impaired fear inhibition to nonpainful movements during fear extinction. Interestingly, high levels of positive affect buffer against the negative impact of trait anxiety. Increasing positive affect during exposure may counter the effects of trait vulnerabilities and improve treatment outcomes. Copyright © 2014 American Pain Society. Published by Elsevier Inc. All rights reserved.

  17. Linking hearing impairment, employment and education.

    PubMed

    Garramiola-Bilbao, I; Rodríguez-Álvarez, A

    2016-12-01

    To analyse the impact that hearing impairment and other relevant variables have on the education and employment situation of those affected by it in the Principality of Asturias, Spain. To achieve this objective, two discrete choice models (probit) are presented. The first one associates, among other variables, hearing impairment with the individual's employment status and in the second model, an ordered multinomial probit model is used to analyse, among other variables, how the impairment affects the individual's level of studies. Although the levels of statistical significance are low, the model's estimates appear to indicate that hearing impairment in Spain increases the probability of being unemployed by 18.4% (P = 0.09). Additionally, the people suffering from such a disability are, compared with the rest of the population, 10.2% (P = 0.05) more likely to have only completed elementary studies without pursuing any further education. If an individual is able to reach a level of secondary or higher education thus enabling a future incorporation to the work place, a benefit is obviously generated for both the individual as well as society (which has additionally incurred an investment in human capital). In this regard, encouraging the education of hearing-impaired students would profit both the individual (who receives an early integration as a child), which may contribute positively to family and social factors, as well as society who have incurred the investment. Therefore, our result could indicate that programmes created to support individuals with this type of disability represent an increase of welfare both individually and socially. Copyright © 2016 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

  18. Affective and cognitive reactivity to mood induction in chronic depression.

    PubMed

    Guhn, Anne; Sterzer, Philipp; Haack, Friderike H; Köhler, Stephan

    2018-03-15

    Chronic depression (CD) is strongly associated with childhood maltreatment, which has been proposed to lead to inefficient coping styles that are characterized by abnormal affective responsiveness and dysfunctional cognitive attitudes. However, while this notion forms an important basis for psychotherapeutic strategies in the treatment of CD, there is still little direct empirical evidence for a role of altered affective and cognitive reactivity in CD. The present study therefore experimentally investigated affective and cognitive reactivity to two forms of negative mood induction in CD patients versus a healthy control sample (HC). For the general mood induction procedure, a combination of sad pictures and sad music was used, while for individualized mood induction, negative mood was induced by individualized scripts with autobiographical content. Both experiments included n = 15 CD patients versus n = 15 HC, respectively. Interactions between affective or cognitive reactivity and group were analyzed by repeated measurements ANOVAs. General mood induction neither revealed affective nor cognitive reactivity in the patient group while the control group reported the expected decrease of positive affect [interaction (IA) affective reactivity x group: p = .011, cognitive reactivity x group: n.s.]. In contrast, individualized mood induction specifically increased affective reactivity (IA: p = .037) as well as the amount of dysfunctional cognitions in patients versus controls (IA: p = .014). The experiments were not balanced in a crossover design, causal conclusions are thus limited. Additionally, the differences to non-chronic forms of depression are still outstanding. The results suggest that in patients with CD, specific emotional activation through autobiographical memories is a key factor in dysfunctional coping styles. Psychotherapeutic interventions aimed at modifying affective and cognitive reactivity are thus of high relevance in the treatment of CD. Copyright © 2018 Elsevier B.V. All rights reserved.

  19. 41 CFR 51-1.3 - Definitions.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ..., operated in the interest of the blind or persons with other severe disabilities, the net income of which.... Interested person means an individual or legal entity affected by a proposed addition of a commodity or... physical or mental impairment (a residual, limiting condition resulting from an injury, disease, or...

  20. Possible behavioural, energetic and demographic effects of displacement of red-throated divers

    USGS Publications Warehouse

    Dierschke, Volker; Furness, Robert W.; Gray, Carrie E.; Petersen, Ib Krag; Schmutz, Joel A.; Zydelis, Ramunas; Daunt, Francis

    2017-01-01

    This report comprises the main points of discussion and agreement during a workshop, held in Edinburgh in May 2017, to discuss how displacement might affect individuals and the Red-throated diver population; with additional information added by the scientists following the workshop.

  1. Biting the hand that feeds: current opinion on the interpersonal causes, correlates, and consequences of borderline personality disorder.

    PubMed

    Crowell, Sheila E

    2016-01-01

    Borderline personality disorder (BPD) is a complex psychiatric diagnosis characterized by dysregulated behaviors, emotions, cognitions, and interpersonal relationships. In recent years, developmental psychopathologists have sought to identify early origins of BPD, with the ultimate goal of developing and providing effective preventative interventions for those at highest risk. In addition to heritable biological sensitivities, many scholars assert that environmental and interpersonal risk factors contribute to the emergence and maintenance of key borderline traits. Nonetheless, many BPD researchers examine only affected individuals, neglecting the family, peer, couple, and other dynamic contextual forces that impinge upon individual-level behavior. In the past decade, however, theoretical and empirical research has increasingly explored the interpersonal causes, correlates, and consequences of BPD. Such work has resulted in novel research and clinical theories intended to better understand and improve interpersonal dynamics among those with borderline traits. A major objective for the field is to better characterize how interpersonal dynamics affect (and are affected by) the behaviors, emotions, and thoughts of vulnerable individuals to either reduce or heighten risk for BPD.

  2. The Revenue Act of 1978: tax reform legislation continues.

    PubMed

    Komensky, A M

    1979-04-01

    The Revenue Act of 1978 contains several changes in the federal tax laws that affect the business aspects of dental practice as well as the dentist as a individual taxpayer. The dentist as a business person should be aware of the provisions affecting the investment credit, simplified pensions plans, the corporate tax rates, the jobs tax credit, and subchapter S corporations. The dentist as an individual taxpayer should be aware of the new individual tax rates, the general tax credit, changes in the itemized deductions, and the capital gains tax. In addition, all dentists must be aware of the changes in the social security laws. The provisions of the Revenue Act of 1978 presented do not represent every new provision, only those that most directly affect the dentist. Several other provisions of the act must not be overlooked in tax planning or tax preparation. With the changes in the tax laws in mind, the dentist, working with an attornye, accountant, or business advisor, could plan the advantageous ways to expand the practice, purchase new equipment, or shorten the time of tax return preparation.

  3. Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.

    PubMed

    Feben, Candice; Spencer, Careni; Lochan, Anneline; Laing, Nakita; Fieggen, Karen; Honey, Engela; Wainstein, Tasha; Krause, Amanda

    2017-07-01

    Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors. Parents of affected individuals are obligate carriers for heterozygous BRCA2 mutations and are thus potentially at risk for adult onset cancers which fall within the hereditary breast and ovarian cancer spectrum. We present two cases of black South African patients with FA diagnosed with biallelic BRCA2 mutations and discuss the phenotypic consequences and implications for them and their families. Recognition of this severe end of the phenotypic spectrum of FA is critical in allowing for confirmation of the diagnosis as well as cascade screening and appropriate care of family members.

  4. Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.

    PubMed

    Melin, M; Entesarian, M; Carlsson, G; Garwicz, D; Klein, C; Fadeel, B; Nordenskjöld, M; Palmblad, J; Henter, J I; Dahl, N

    2007-02-16

    Autosomal recessive severe congenital neutropenia (SCN) or Kostmann syndrome is characterised by reduced neutrophil counts and subsequent recurrent bacterial infections. The disease was originally described in a large consanguineous pedigree from Northern Sweden. A genome-wide autozygosity scan was initiated on samples from four individuals in the original pedigree using high density single nucleotide polymorphism (SNP) genotyping arrays in order to map the disease locus. Thirty candidate regions were identified and the ascertainment of samples from two additional patients confirmed a single haplotype with significant association to the disorder (p<0.01) on chromosome 1q22. One affected individual from the original Kostmann pedigree was confirmed as a phenocopy. The minimal haplotype shared by affected individuals spans a candidate region of 1.2 Mb, containing several potential candidate genes.

  5. Anxiety and affective disorder comorbidity related to serotonin and other neurotransmitter systems: obsessive–compulsive disorder as an example of overlapping clinical and genetic heterogeneity

    PubMed Central

    Murphy, Dennis L.; Moya, Pablo R.; Fox, Meredith A.; Rubenstein, Liza M.; Wendland, Jens R.; Timpano, Kiara R.

    2013-01-01

    Individuals with obsessive–compulsive disorder (OCD) have also been shown to have comorbid lifetime diagnoses of major depressive disorder (MDD; rates greater than 70%), bipolar disorder (rates greater than 10%) and other anxiety disorders (e.g. panic disorder, post-traumatic stress disorder (PTSD)). In addition, overlap exists in some common genetic variants (e.g. the serotonin transporter gene (SLC6A4), the brain-derived neurotrophic factor (BDNF) gene), and rare variants in genes/chromosomal abnormalities (e.g. the 22q11 microdeletion syndrome) found across the affective/anxiety disorder spectrums. OCD has been proposed as a possible independent entity for DSM-5, but by others thought best retained as an anxiety disorder subtype (its current designation in DSM-IV), and yet by others considered best in the affective disorder spectrum. This review focuses on OCD, a well-studied but still puzzling heterogeneous disorder, regarding alterations in serotonergic, dopaminergic and glutamatergic neurotransmission in addition to other systems involved, and how related genes may be involved in the comorbidity of anxiety and affective disorders. OCD resembles disorders such as depression, in which gene × gene interactions, gene × environment interactions and stress elements coalesce to yield OC symptoms and, in some individuals, full-blown OCD with multiple comorbid disorders. PMID:23440468

  6. Alcohol-Induced Developmental Origins of Adult-Onset Diseases

    PubMed Central

    Lunde, Emilie R.; Washburn, Shannon E.; Golding, Michael C.; Bake, Shameena; Miranda, Rajesh C.; Ramadoss, Jayanth

    2016-01-01

    Fetal alcohol exposure may impair growth, development, and function of multiple organ systems, and is encompassed by the term Fetal Alcohol Spectrum Disorders (FASD). Research has so far focused on the mechanisms, prevention, and diagnosis of FASD, while the risk for adult-onset chronic diseases in individuals exposed to alcohol in utero is not well explored. David Barker’s hypothesis on Developmental Origins of Health and Disease (DOHaD) suggests that insults to the milieu of the developing fetus program it for adult-development of chronic diseases. In the 25 years since the introduction of this hypothesis, epidemiological and animal model studies have made significant advancements in identifying in utero developmental origins of chronic adult-onset diseases affecting cardiovascular, endocrine, musculoskeletal, and psycho-behavioral systems. Teratogen exposure is an established programming agent for adult diseases, and recent studies suggest that prenatal alcohol exposure correlates with adult-onset of neuro-behavioral deficits, cardiovascular disease, endocrine dysfunction, nutrient homeostasis instability, warranting additional investigation of alcohol-induced DOHaD, as well as patient follow-up well into adulthood for affected individuals. In utero epigenetic alterations during critical periods of methylation is a key potential mechanism for programming and susceptibility of adult-onset chronic diseases, with imprinted genes affecting metabolism being critical targets. Additional studies in epidemiology, phenotypic characterization in response to timing, dose and duration of exposure, as well as elucidation of mechanisms underlying FASD-DOHaD inter-relation are thus needed to clinically define chronic disease associated with prenatal alcohol exposure. These studies are critical to establish interventional strategies that decrease incidence of these adult-onset diseases and promote healthier aging among individuals affected with FASD. PMID:27254466

  7. Alcohol-Induced Developmental Origins of Adult-Onset Diseases.

    PubMed

    Lunde, Emilie R; Washburn, Shannon E; Golding, Michael C; Bake, Shameena; Miranda, Rajesh C; Ramadoss, Jayanth

    2016-07-01

    Fetal alcohol exposure may impair growth, development, and function of multiple organ systems and is encompassed by the term fetal alcohol spectrum disorders (FASD). Research has so far focused on the mechanisms, prevention, and diagnosis of FASD, while the risk for adult-onset chronic diseases in individuals exposed to alcohol in utero is not well explored. David Barker's hypothesis on Developmental Origins of Health and Disease (DOHaD) suggests that insults to the milieu of the developing fetus program it for adult development of chronic diseases. In the 25 years since the introduction of this hypothesis, epidemiological and animal model studies have made significant advancements in identifying in utero developmental origins of chronic adult-onset diseases affecting cardiovascular, endocrine, musculoskeletal, and psychobehavioral systems. Teratogen exposure is an established programming agent for adult diseases, and recent studies suggest that prenatal alcohol exposure correlates with adult onset of neurobehavioral deficits, cardiovascular disease, endocrine dysfunction, and nutrient homeostasis instability, warranting additional investigation of alcohol-induced DOHaD, as well as patient follow-up well into adulthood for affected individuals. In utero epigenetic alterations during critical periods of methylation are a key potential mechanism for programming and susceptibility of adult-onset chronic diseases, with imprinted genes affecting metabolism being critical targets. Additional studies in epidemiology, phenotypic characterization in response to timing, dose, and duration of exposure, as well as elucidation of mechanisms underlying FASD-DOHaD inter relation, are thus needed to clinically define chronic disease associated with prenatal alcohol exposure. These studies are critical to establish interventional strategies that decrease incidence of these adult-onset diseases and promote healthier aging among individuals affected with FASD. Copyright © 2016 by the Research Society on Alcoholism.

  8. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

    PubMed

    Al-Maawali, Almundher; Barry, Brenda J; Rajab, Anna; El-Quessny, Malak; Seman, Ann; Coury, Stephanie Newton; Barkovich, A James; Yang, Edward; Walsh, Christopher A; Mochida, Ganeshwaran H; Stoler, Joan M

    2016-02-01

    Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epilepsy, severe vision impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections. A heterozygous DIAPH1 mutation was originally reported in one family with autosomal dominant deafness. Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. The role of DIAPH1 was supported using parametric linkage analysis, RNA and protein studies in their patients' cell lines and further studies in human neural progenitors cells and a diap1 knockout mouse. In this report, the proband was initially brought to medical attention for profound metopic synostosis. Additional concerns arose when his head circumference did not increase after surgical release at 5 months of age and he was diagnosed with microcephaly and epilepsy at 6 months of age. Clinical exome analysis identified a homozygous DIAPH1 mutation. Another homozygous DIAPH1 mutation was identified in the research exome analysis of a second family with three siblings presenting with a similar phenotype. Importantly, no hearing impairment is reported in the homozygous affected individuals or in the heterozygous carrier parents in any of the families demonstrating the autosomal recessive microcephaly phenotype. These additional families provide further evidence of the likely causal relationship between DIAPH1 mutations and a neurodevelopmental disorder. © 2016 Wiley Periodicals, Inc.

  9. A General Definition of the Heritable Variation That Determines the Potential of a Population to Respond to Selection

    PubMed Central

    Bijma, Piter

    2011-01-01

    Genetic selection is a major force shaping life on earth. In classical genetic theory, response to selection is the product of the strength of selection and the additive genetic variance in a trait. The additive genetic variance reflects a population’s intrinsic potential to respond to selection. The ordinary additive genetic variance, however, ignores the social organization of life. With social interactions among individuals, individual trait values may depend on genes in others, a phenomenon known as indirect genetic effects. Models accounting for indirect genetic effects, however, lack a general definition of heritable variation. Here I propose a general definition of the heritable variation that determines the potential of a population to respond to selection. This generalizes the concept of heritable variance to any inheritance model and level of organization. The result shows that heritable variance determining potential response to selection is the variance among individuals in the heritable quantity that determines the population mean trait value, rather than the usual additive genetic component of phenotypic variance. It follows, therefore, that heritable variance may exceed phenotypic variance among individuals, which is impossible in classical theory. This work also provides a measure of the utilization of heritable variation for response to selection and integrates two well-known models of maternal genetic effects. The result shows that relatedness between the focal individual and the individuals affecting its fitness is a key determinant of the utilization of heritable variance for response to selection. PMID:21926298

  10. A general definition of the heritable variation that determines the potential of a population to respond to selection.

    PubMed

    Bijma, Piter

    2011-12-01

    Genetic selection is a major force shaping life on earth. In classical genetic theory, response to selection is the product of the strength of selection and the additive genetic variance in a trait. The additive genetic variance reflects a population's intrinsic potential to respond to selection. The ordinary additive genetic variance, however, ignores the social organization of life. With social interactions among individuals, individual trait values may depend on genes in others, a phenomenon known as indirect genetic effects. Models accounting for indirect genetic effects, however, lack a general definition of heritable variation. Here I propose a general definition of the heritable variation that determines the potential of a population to respond to selection. This generalizes the concept of heritable variance to any inheritance model and level of organization. The result shows that heritable variance determining potential response to selection is the variance among individuals in the heritable quantity that determines the population mean trait value, rather than the usual additive genetic component of phenotypic variance. It follows, therefore, that heritable variance may exceed phenotypic variance among individuals, which is impossible in classical theory. This work also provides a measure of the utilization of heritable variation for response to selection and integrates two well-known models of maternal genetic effects. The result shows that relatedness between the focal individual and the individuals affecting its fitness is a key determinant of the utilization of heritable variance for response to selection.

  11. Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

    PubMed Central

    Polvi, Anne; Linnankivi, Tarja; Kivelä, Tero; Herva, Riitta; Keating, James P.; Mäkitie, Outi; Pareyson, Davide; Vainionpää, Leena; Lahtinen, Jenni; Hovatta, Iiris; Pihko, Helena; Lehesjoki, Anna-Elina

    2012-01-01

    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinal vascular abnormalities. Additional features include poor growth, skeletal and hematological abnormalities, and recurrent gastrointestinal bleedings. Autosomal-recessive inheritance has been postulated. The pathogenesis of CRMCC is unknown, but its phenotype has key similarities with Revesz syndrome, which is caused by mutations in TINF2, a gene encoding a member of the telomere protecting shelterin complex. After a whole-exome sequencing approach in four unrelated individuals with CRMCC, we observed four recessively inherited compound heterozygous mutations in CTC1, which encodes the CTS telomere maintenance complex component 1. Sanger sequencing revealed seven more compound heterozygous mutations in eight more unrelated affected individuals. Two individuals who displayed late-onset cerebral findings, a normal fundus appearance, and no systemic findings did not have CTC1 mutations, implying that systemic findings are an important indication for CTC1 sequencing. Of the 11 mutations identified, four were missense, one was nonsense, two resulted in in-frame amino acid deletions, and four were short frameshift-creating deletions. All but two affected individuals were compound heterozygous for a missense mutation and a frameshift or nonsense mutation. No individuals with two frameshift or nonsense mutations were identified, which implies that severe disturbance of CTC1 function from both alleles might not be compatible with survival. Our preliminary functional experiments did not show evidence of severely affected telomere integrity in the affected individuals. Therefore, determining the underlying pathomechanisms associated with deficient CTC1 function will require further studies. PMID:22387016

  12. Intestinal commensal microbes as immune modulators

    PubMed Central

    Ivanov, Ivaylo I.; Honda, Kenya

    2012-01-01

    Commensal bacteria are necessary for the development and maintenance of a healthy immune system. Harnessing the ability of microbiota to affect host immunity is considered an important therapeutic strategy for many mucosal and non-mucosal immune-related conditions, such as inflammatory bowel diseases (IBD), celiac disease, metabolic syndrome, diabetes and microbial infections. In addition to well-established immunostimulatory effects of the microbiota, the presence of individual mutualistic commensal bacteria with immunomodulatory effects has been described. These organisms are permanent members of the commensal microbiota and affect host immune homeostasis in specific ways. Identification of individual examples of such immunomodulatory commensals and understanding their mechanisms of interaction with the host will be invaluable in designing therapeutic strategies to reverse intestinal dysbiosis and recover immunological homeostasis. PMID:23084918

  13. 76 FR 9330 - Notice of Proposed Information Collection Requests

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-17

    ... Number: 1820-0528. Agency Form Number(s): Form RSA-227. Frequency of Responses: Annually. Affected Public... Estimated Number of Annual Burden Hours: 896. Abstract: Form RSA-227 is used to meet specific data.... In addition, Form RSA-227 will be used to analyze and evaluate the effectiveness of individual Client...

  14. Special Issues in Working with Gifted Minority Adolescents.

    ERIC Educational Resources Information Center

    Lindstrom, Rena R.; Van Sant, Sondra

    1986-01-01

    Gifted adolescents from minority groups face the same issues all gifted young people face, but the addition of racial and cultural factors increases the complexity of these issues. Discusses individual versus cultural pressures that affect identity, issues related to assisting students with long-range planning, and two models for programming.…

  15. Culture-gene coevolution of individualism-collectivism and the serotonin transporter gene.

    PubMed

    Chiao, Joan Y; Blizinsky, Katherine D

    2010-02-22

    Culture-gene coevolutionary theory posits that cultural values have evolved, are adaptive and influence the social and physical environments under which genetic selection operates. Here, we examined the association between cultural values of individualism-collectivism and allelic frequency of the serotonin transporter functional polymorphism (5-HTTLPR) as well as the role this culture-gene association may play in explaining global variability in prevalence of pathogens and affective disorders. We found evidence that collectivistic cultures were significantly more likely to comprise individuals carrying the short (S) allele of the 5-HTTLPR across 29 nations. Results further show that historical pathogen prevalence predicts cultural variability in individualism-collectivism owing to genetic selection of the S allele. Additionally, cultural values and frequency of S allele carriers negatively predict global prevalence of anxiety and mood disorder. Finally, mediation analyses further indicate that increased frequency of S allele carriers predicted decreased anxiety and mood disorder prevalence owing to increased collectivistic cultural values. Taken together, our findings suggest culture-gene coevolution between allelic frequency of 5-HTTLPR and cultural values of individualism-collectivism and support the notion that cultural values buffer genetically susceptible populations from increased prevalence of affective disorders. Implications of the current findings for understanding culture-gene coevolution of human brain and behaviour as well as how this coevolutionary process may contribute to global variation in pathogen prevalence and epidemiology of affective disorders, such as anxiety and depression, are discussed.

  16. Personality differentially affects individual mate choice decisions in female and male Western mosquitofish (Gambusia affinis).

    PubMed

    Chen, Bo-Jian; Liu, Kai; Zhou, Lin-Jun; Gomes-Silva, Guilherme; Sommer-Trembo, Carolin; Plath, Martin

    2018-01-01

    Consistent individual differences in behavioral tendencies (animal personality) can affect individual mate choice decisions. We asked whether personality traits affect male and female mate choice decisions similarly and whether potential personality effects are consistent across different mate choice situations. Using western mosquitofish (Gambusia affinis) as our study organism, we characterized focal individuals (males and females) twice for boldness, activity, and sociability/shoaling and found high and significant behavioral repeatability. Additionally, each focal individual was tested in two different dichotomous mate choice tests in which it could choose between computer-animated stimulus fish of the opposite sex that differed in body size and activity levels, respectively. Personality had different effects on female and male mate choice: females that were larger than average showed stronger preferences for large-bodied males with increasing levels of boldness/activity (i.e., towards more proactive personality types). Males that were larger than average and had higher shoaling tendencies showed stronger preferences for actively swimming females. Size-dependent effects of personality on the strength of preferences for distinct phenotypes of potential mating partners may reflect effects of age/experience (especially in females) and social dominance (especially in males). Previous studies found evidence for assortative mate choice based on personality types or hypothesized the existence of behavioral syndromes of individuals' choosiness across mate choice criteria, possibly including other personality traits. Our present study exemplifies that far more complex patterns of personality-dependent mate choice can emerge in natural systems.

  17. The relationship of hostility, negative affect and ethnicity to cardiovascular responses: an ambulatory study in Singapore.

    PubMed

    Enkelmann, Hwee Chong; Bishop, George D; Tong, Eddie M W; Diong, Siew Maan; Why, Yong Peng; Khader, Majeed; Ang, Jansen

    2005-05-01

    This study tested the hypotheses that ambulatory heart rate and blood pressure would be higher for individuals high but not low in hostility when they experienced negative affect or social stress and that this interaction would be stronger for Indians compared with other Singapore ethnic groups. Ambulatory blood pressure monitoring was done on 108 male Singapore patrol officers as they went about their daily duties. After each BP measurement participants completed a computerized questionnaire including items on emotional experience. Individuals high in hostility showed higher systolic blood pressure when reporting negative affect whereas this was not true for those low in hostility. Ethnic differences were obtained such that Indians showed an increase in mean arterial pressure when angered whereas MAP was negatively related to anger for Malays and unrelated for Chinese. Also a three-way interaction between ethnicity, hostility, and social stress indicated that hostility and social stress interacted in their effects on DBP for Indian participants but not for Chinese or Malays. Finally, a three-way interaction was obtained between ethnicity, hostility and negative affect for heart rate in which heart rate increased with increasing levels of negative affect for Chinese high in hostility and Malays low in hostility but decreased with increasing negative affect for all other participants. These data are consistent with higher CHD rates among individuals high in hostility and also provide additional evidence on ethnic differences in cardiovascular reactivity in Singapore.

  18. Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity.

    PubMed

    Scott, W K; Grubber, J M; Conneally, P M; Small, G W; Hulette, C M; Rosenberg, C K; Saunders, A M; Roses, A D; Haines, J L; Pericak-Vance, M A

    2000-03-01

    Apolipoprotein E (APOE) is the only confirmed susceptibility gene for late-onset Alzheimer disease (AD). In a recent genomic screen of 54 families with late-onset AD, we detected significant evidence for a second late-onset AD locus located on chromosome 12 between D12S373 and D12S390. Linkage to this region was strongest in 27 large families with at least one affected individual without an APOE-4 allele, suggesting that APOE and the chromosome 12 locus might have independent effects. We have since genotyped several additional markers across the region, to refine the linkage results. In analyzing these additional data, we have addressed the issue of heterogeneity in the data set by weighting results by clinical and neuropathologic features, sibship size, and APOE genotype. When considering all possible affected sib pairs (ASPs) per nuclear family, we obtained a peak maximum LOD score between D12S1057 and D12S1042. The magnitude and location of the maximum LOD score changed when different weighting schemes were used to control for the number of ASPs contributed by each nuclear family. Using the affected-relative-pair method implemented in GENEHUNTER-PLUS, we obtained a maximum LOD score between D12S398 and D12S1632, 25 cM from the original maximum LOD score. These results indicate that family size influences the location estimate for the chromosome 12 AD gene. The results of conditional linkage analysis by use of GENEHUNTER-PLUS indicated that evidence for linkage to chromosome 12 was stronger in families with affected individuals lacking an APOE-4 allele; much of this evidence came from families with affected individuals with neuropathologic diagnosis of dementia with Lewy bodies (DLB). Taken together, these results indicate that the chromosome 12 locus acts independently of APOE to increase the risk of late-onset familial AD and that it may be associated with the DLB variant of AD.

  19. The longitudinal and interactive effects of HIV status, stimulant use, and host genotype upon neurocognitive functioning.

    PubMed

    Levine, Andrew J; Reynolds, Sandra; Cox, Christopher; Miller, Eric N; Sinsheimer, Janet S; Becker, James T; Martin, Eileen; Sacktor, Ned

    2014-06-01

    Both human immunodeficiency virus (HIV)-1 infection and illicit stimulant use can adversely impact neurocognitive functioning, and these effects can be additive. However, significant variability exists such that as-of-yet unidentified exogenous and endogenous factors affect one's risk for neurocognitive impairment. Literature on both HIV and stimulant use indicates that host genetic variants in immunologic and dopamine-related genes are one such factor. In this study, the individual and interactive effects of HIV status, stimulant use, and genotype upon neurocognitive functioning were examined longitudinally over a 10-year period. Nine hundred fifty-two Caucasian HIV+ and HIV- cases from the Multicenter AIDS Cohort Study were included. All cases had at least two comprehensive neurocognitive evaluations between 1985 and 1995. Pre-highly active antiretroviral therapy (HAART) data were examined in order to avoid the confounding effect of variable drug regimens. Linear mixed models were used, with neurocognitive domain scores as the outcome variables. No four-way interactions were found, indicating that HIV and stimulant use do not interact over time to affect neurocognitive functioning as a function of genotype. Multiple three-way interactions were found that involved genotype and HIV status. All immunologically related genes found to interact with HIV status affected neurocognitive functioning in the expected direction; however, only C-C chemokine ligand 2 (CCL2) and CCL3 affected HIV+ individuals specifically. Dopamine-related genetic variants generally affected HIV-negative individuals only. Neurocognitive functioning among HIV+ individuals who also used stimulants was not significantly different from those who did not use stimulants. The findings support the role of immunologically related genetic differences in CCL2 and CCL3 in neurocognitive functioning among HIV+ individuals; however, their impact is minor. Being consistent with findings from another cohort, dopamine (DA)-related genetic differences do not appear to impact the longitudinal neurocognitive functioning of HIV+ individuals.

  20. Moderating role of marital quality in older adults' depressed affect: beyond the main-effects model.

    PubMed

    Bookwala, Jamila; Franks, Melissa M

    2005-11-01

    We examine the role of three indicators of marital quality (marital disagreement, marital happiness, and time spent together) as moderators of the association between physical disability and depressed affect among married older individuals (N=1,044). We found support for the moderating role of marital disagreement wherein the detrimental effect of disability on depressed affect was significantly heightened among older adults with more disagreements with their spouse; a moderating effect was not detected for marital happiness or time spent together. We conclude that, in addition to its main effect on older adults' depressed affect, marital quality (as indicated by marital disagreement) plays a significant stress-moderating role in the physical disability-depressed affect link.

  1. Within-person changes in salivary testosterone and physical characteristics of puberty predict boys' daily affect.

    PubMed

    Klipker, Kathrin; Wrzus, Cornelia; Rauers, Antje; Boker, Steven M; Riediger, Michaela

    2017-09-01

    Recent investigations highlighted the role of within-person pubertal changes for adolescents' behavior. Yet, little is known about effects on adolescents' daily affect, particularly regarding the hormonal changes underlying physical changes during puberty. In a study with 148 boys aged 10 to 20years, we tested whether within-person physical and hormonal changes over eight months predicted everyday affect fluctuations, measured with experience sampling. As expected, greater within-person changes in testosterone (but not in dehydroepiandrosterone) were associated with higher affect fluctuations in daily life. Additionally, greater physical changes predicted higher affect fluctuations for individuals in the beginning of puberty. The findings demonstrate the relevance of physical and hormonal changes in boys' affective (in)stability. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Individual need satisfaction, organizational practices, and job satisfaction among laboratory professionals.

    PubMed

    Matteson, M T; Ivancevich, J M; McMahon, J T

    1977-08-01

    This study examines the role of 1) personal job-related needs and 2) certain organizational characteristics in affecting overall job satisfaction for a sample of 259 laboratory professionals, primarily medical technologists. Specific individual needs and specific organizational characteristics were found to be related to three measures of overall job satisfaction. Additional comparisons were made for administrators versus non-administrators and for differences associated with different sized organizations. Implications for the managers of medical technologists and other laboratory professionals are discussed.

  3. Idiosyncratic deals and employee outcomes: the mediating roles of social exchange and self-enhancement and the moderating role of individualism.

    PubMed

    Liu, Jun; Lee, Cynthia; Hui, Chun; Kwan, Ho Kwong; Wu, Long-Zeng

    2013-09-01

    The majority of studies on idiosyncratic employment arrangements ("i-deals") are based on social exchange theory. The authors suggest that self-enhancement theory, in addition to social exchange, can be used to explain the effects of i-deals. Using a multisource sample including 230 employees and 102 supervisors from 2 Chinese companies, the authors adopt a 3-wave lagged design to examine the mediating roles of social exchange and self-enhancement and the moderating role of individualism in the relationships between i-deals and employee outcomes, as indicated by proactive behaviors and affective commitment. The results of bootstrapping analyses confirm the mediating effects of social exchange and self-enhancement. In addition, employees with high levels of individualism are more receptive to self-enhancement effects; in contrast, employees with low levels of individualism are more receptive to social exchange effects. PsycINFO Database Record (c) 2013 APA, all rights reserved

  4. Dispositional Mindfulness Predicts Adaptive Affective Responses to Health Messages and Increased Exercise Motivation

    PubMed Central

    O’Donnell, Matthew Brook; Strecher, Victor J.; Falk, Emily B.

    2016-01-01

    Feelings can shape how people respond to persuasive messages. In health communication, adaptive affective responses to potentially threating messages constitute one key to intervention success. The current study tested dispositional mindfulness, characterized by awareness of the present moment, as a predictor of adaptive affective responses to potentially threatening health messages and desirable subsequent health outcomes. Both general and discrete negative affective states (i.e., shame) were examined in relation to mindfulness and intervention success. Individuals (n=67) who reported less than 195 weekly minutes of exercise were recruited. At baseline, participants’ dispositional mindfulness and exercise outcomes were assessed, including self-reported exercise motivation and physical activity. A week later, all participants were presented with potentially threatening and self-relevant health messages encouraging physical activity and discouraging sedentary lifestyle, and their subsequent affective response and exercise motivation were assessed. Approximately one month later, changes in exercise motivation and physical activity were assessed again. In addition, participants’ level of daily physical activity was monitored by a wrist worn accelerometer throughout the entire duration of the study. Higher dispositional mindfulness predicted greater increases in exercise motivation one month after the intervention. Importantly, this effect was fully mediated by lower negative affect and shame specifically, in response to potentially threatening health messages among highly mindful individuals. Baseline mindfulness was also associated with increased self-reported vigorous activity, but not with daily physical activity as assessed by accelerometers. These findings suggest potential benefits of considering mindfulness as an active individual difference variable in theories of affective processing and health communication. PMID:28344683

  5. Dispositional Mindfulness Predicts Adaptive Affective Responses to Health Messages and Increased Exercise Motivation.

    PubMed

    Kang, Yoona; O'Donnell, Matthew Brook; Strecher, Victor J; Falk, Emily B

    2017-04-01

    Feelings can shape how people respond to persuasive messages. In health communication, adaptive affective responses to potentially threating messages constitute one key to intervention success. The current study tested dispositional mindfulness, characterized by awareness of the present moment, as a predictor of adaptive affective responses to potentially threatening health messages and desirable subsequent health outcomes. Both general and discrete negative affective states (i.e., shame) were examined in relation to mindfulness and intervention success. Individuals (n=67) who reported less than 195 weekly minutes of exercise were recruited. At baseline, participants' dispositional mindfulness and exercise outcomes were assessed, including self-reported exercise motivation and physical activity. A week later, all participants were presented with potentially threatening and self-relevant health messages encouraging physical activity and discouraging sedentary lifestyle, and their subsequent affective response and exercise motivation were assessed. Approximately one month later, changes in exercise motivation and physical activity were assessed again. In addition, participants' level of daily physical activity was monitored by a wrist worn accelerometer throughout the entire duration of the study. Higher dispositional mindfulness predicted greater increases in exercise motivation one month after the intervention. Importantly, this effect was fully mediated by lower negative affect and shame specifically, in response to potentially threatening health messages among highly mindful individuals. Baseline mindfulness was also associated with increased self-reported vigorous activity, but not with daily physical activity as assessed by accelerometers. These findings suggest potential benefits of considering mindfulness as an active individual difference variable in theories of affective processing and health communication.

  6. Empowering workplace and wellbeing among healthcare professionals: the buffering role of job control.

    PubMed

    Galletta, Maura; Portoghese, Igor; Fabbri, Daniele; Pilia, Ilaria; Campagna, Marcello

    2016-05-26

    Health care workers are exposed to several job stressors that can adversely affect their wellbeing. Workplace incivility is a growing organizational concern with the potential to create workplaces harmful to individuals' wellbeing and increase occupational health risks. Based on the Job Demands-Resources (JD-R) model, the purpose of the present study was to investigate the role of two resources (organizational empowerment and job control) on individuals' well-being (emotional exhaustion) and attitude at work (unit affective commitment). A total of 210 hospital workers completed a self-administered questionnaire that was used to measure organizational empowerment, workplace incivility, job control, exhaustion, and affective commitment. Data were collected in 2014. Data were examined via linear regression analyses. The results showed that workplace incivility was positively related to emotional exhaustion and negatively related to affective commitment. Workplace empowerment was positively related to affective commitment and negatively related to emotional exhaustion. Furthermore, the positive relationship between workplace empowerment and affective commitment was significantly moderated by job control. Our results found support for the JD-R model. Specifically, results showed the buffering effect of job control in the relationship between empowerment and affective commitment. Our findings may concretely contribute to the stress literature and offer additional suggestions to promote healthy workplaces.

  7. Child abuse and negative explicit and automatic self-associations: the cognitive scars of emotional maltreatment.

    PubMed

    van Harmelen, Anne-Laura; de Jong, Peter J; Glashouwer, Klaske A; Spinhoven, Philip; Penninx, Brenda W J H; Elzinga, Bernet M

    2010-06-01

    Individuals reporting Childhood Abuse (CA) (i.e., emotional neglect, emotional-, physical- and sexual-abuse) are marked by increased explicit (i.e. self-reported) negative self-associations, and an increased risk to develop depression or anxiety disorders. Automatic self-associations might play an important role in the development and maintenance of affective disorders after exposure to CA, since automatic associations are assumed to be involved in uncontrolled (spontaneous) affective behavior. This study examined whether individuals reporting a history of CA show stronger automatic (and explicit) self-depression and/or self-anxiety associations than individuals who report no CA in a large cohort study (Netherlands Study of Depression and Anxiety (NESDA), n = 2981). The Implicit Association Test (IAT) was utilized to assess automatic self-depression and self-anxiety associations. We found that CA was associated with enhanced automatic (and explicit) self-depression and self-anxiety associations. Additionally, when compared to physical- and sexual-abuse, Childhood Emotional Maltreatment (CEM; emotional abuse and emotional neglect) had the strongest link with enhanced automatic (and explicit) self-depression and self-anxiety associations. In addition, automatic and explicit negative self-associations partially mediated the association between CEM and depressive or anxious symptomatology. Implications regarding the importance of CA, and CEM in particular will be discussed. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

  8. Research Review: Neural response to threat in children, adolescents, and adults after child maltreatment - a quantitative meta-analysis.

    PubMed

    Hein, Tyler C; Monk, Christopher S

    2017-03-01

    Child maltreatment is common and has long-term consequences for affective function. Investigations of neural consequences of maltreatment have focused on the amygdala. However, developmental neuroscience indicates that other brain regions are also likely to be affected by child maltreatment, particularly in the social information processing network (SIPN). We conducted a quantitative meta-analysis to: confirm that maltreatment is related to greater bilateral amygdala activation in a large sample that was pooled across studies; investigate other SIPN structures that are likely candidates for altered function; and conduct a data-driven examination to identify additional regions that show altered activation in maltreated children, teens, and adults. We conducted an activation likelihood estimation analysis with 1,733 participants across 20 studies of emotion processing in maltreated individuals. Maltreatment is associated with increased bilateral amygdala activation to emotional faces. One SIPN structure is altered: superior temporal gyrus, of the detection node, is hyperactive in maltreated individuals. The results of the whole-brain corrected analysis also show hyperactivation of the parahippocampal gyrus and insula in maltreated individuals. The meta-analysis confirms that maltreatment is related to increased bilateral amygdala reactivity and also shows that maltreatment affects multiple additional structures in the brain that have received little attention in the literature. Thus, although the majority of studies examining maltreatment and brain function have focused on the amygdala, these findings indicate that the neural consequences of child maltreatment involve a broader network of structures. © 2016 Association for Child and Adolescent Mental Health.

  9. 33 CFR 331.4 - Notification of appealable actions.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... appeal. For approved JDs, the notification must include an NAP fact sheet, an RFA form, and a basis of JD... application, an NAP fact sheet and an RFA form. For proffered individual permits, when the initial proffered...), the notification must include an NAP fact sheet and an RFA form. Additionally, an affected party has...

  10. A behavioral ecology approach to traffic accidents: interspecific variation in causes of traffic casualties among birds.

    PubMed

    Møller, Anders Pape; Erritzøe, Helga; Erritzøe, Johannes

    2011-04-01

    Birds and other animals are frequently killed by cars, causing the death of many million individuals per year. Why some species are killed more often than others has never been investigated. In this work hypothesized that risk taking behavior may affect the probability of certain kinds of individuals being killed disproportionately often. Furthermore, behavior of individuals on roads, abundance, habitat preferences, breeding sociality, and health status may all potentially affect the risk of being killed on roads. We used information on the abundance of road kills and the abundance in the surrounding environment of 50 species of birds obtained during regular censuses in 2001-2006 in a rural site in Denmark to test these predictions. The frequency of road kills increased linearly with abundance, while the proportion of individuals sitting on the road or flying low across the road only explained little additional variation in frequency of road casualties. After having accounted for abundance, we found that species with a short flight distance and hence taking greater risks when approached by a potential cause of danger were killed disproportionately often. In addition, solitary species, species with a high prevalence of Plasmodium infection, and species with a large bursa of Fabricius for their body size had a high susceptibility to being killed by cars. These findings suggest that a range of different factors indicative of risk-taking behavior, visual acuity and health status cause certain bird species to be susceptible to casualties due to cars.

  11. Individual differences in cardiorespiratory measures of mental workload: An investigation of negative affectivity and cognitive avoidant coping in pilot candidates.

    PubMed

    Grassmann, Mariel; Vlemincx, Elke; von Leupoldt, Andreas; Van den Bergh, Omer

    2017-03-01

    Cardiorespiratory measures provide useful information in addition to well-established self-report measures when monitoring operator capacity. The purpose of our study was to refine the assessment of operator load by considering individual differences in personality and their associations with cardiorespiratory activation. Physiological and self-report measures were analyzed in 115 pilot candidates at rest and while performing a multiple task covering perceptual speed, spatial orientation, and working memory. In the total sample and particularly in individuals with a general tendency to worry a lot, a cognitive avoidant coping style was associated with a smaller task-related increase in heart rate. Negative affectivity was found to moderate the association between cardiac and self-reported arousal. Given that physiological and self-report measures of mental workload are usually combined when evaluating operator load (e.g., in pilot selection and training), our findings suggest that integrating individual differences may reduce unexplained variance and increase the validity of workload assessments. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Late Pleistocene/Early Holocene Evidence of Prostatic Stones at Al Khiday Cemetery, Central Sudan

    PubMed Central

    Usai, Donatella

    2017-01-01

    The recovery of three stone-like ovoid objects within the burial of a pre-Mesolithic (Late Pleistocene/Early Holocene) individual at Al Khiday cemetery (Central Sudan) raises the question of the nature and origin of these objects. The position in which the objects were found in relation to the human skeleton suggested a pathological condition affecting the individual, possibly urinary bladder, kidney stones or gallstones. To solve this issue, a multi-analytical approach, consisting of tomographic, microstructural and compositional analyses, was therefore performed. Based on their microstructure and mineralogical composition, consisting of hydroxylapatite and whitlockite, the investigated stones were identified as primary (endogenous) prostatic calculi. In addition, the occurrence of bacterial imprints also indicates on-going infectious processes in the individual. This discovery of the earliest known case of lithiasis extends the appearance of prostatic stones into the Late Pleistocene/Early Holocene, a disease which therefore can no longer be considered exclusive to the modern era, but which also affected prehistoric individuals, whose lifestyle and diet were significantly different to our own. PMID:28122013

  13. Intestinal commensal microbes as immune modulators.

    PubMed

    Ivanov, Ivaylo I; Honda, Kenya

    2012-10-18

    Commensal bacteria are necessary for the development and maintenance of a healthy immune system. Harnessing the ability of microbiota to affect host immunity is considered an important therapeutic strategy for many mucosal and nonmucosal immune-related conditions, such as inflammatory bowel diseases (IBDs), celiac disease, metabolic syndrome, diabetes, and microbial infections. In addition to well-established immunostimulatory effects of the microbiota, the presence of individual mutualistic commensal bacteria with immunomodulatory effects has been described. These organisms are permanent members of the commensal microbiota and affect host immune homeostasis in specific ways. Identification of individual examples of such immunomodulatory commensals and understanding their mechanisms of interaction with the host will be invaluable in designing therapeutic strategies to reverse intestinal dysbiosis and recover immunological homeostasis. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. The health implications of deportation policy.

    PubMed

    Morris, Juliana E; Palazuelos, Daniel

    2015-05-01

    The United States detains and deports over 400,000 people annually. This large-scale effort has important consequences for the health of affected individuals and communities. A growing body of research suggests that deportation increases stress and mental illness, economic deprivation, and individual exposure to violence, while also contributing to destabilization and crime at the community level. The challenges to reintegration experienced by deportees are additional push factors that increase their desire to re-emigrate. Furthermore, the related destabilization of local communities also contributes to the push, not just for deportees, but for all affected people in the region. This phenomenon has important implications for the long-term effectiveness of current U.S. deportation policies, which may be contributing to destabilization in home countries and thus potentiating further unauthorized emigration to the U.S.

  15. Coloured leg bands affect male mate-guarding behaviour in the bluethroat

    PubMed

    Johnsen; Lifjeld; Rohde

    1997-07-01

    Artificial traits such as coloured leg bands may affect an individual's mating success, as shown for some birds. One explanation is that colour-matching with a sexual ornament affects the individual's sexual attractiveness. This study reports a colour-band experiment with free-living bluethroats, Luscinia s. svecicaa species where males have a distinct blue and chestnut throat and upper breast. There was no apparent difference in pairing success between males with ornament-matching colour bands (blue and orange) and males with non-ornamental colour bands. However, males with ornamental bands guarded their mates less intensely and spent more time singing, performing song flights and intruding into neighbours' territories than males with non-ornamental bands. We conclude that colour bands affect the trade-off between mate guarding and advertisement behaviour in a way that is consistent with the hypothesis that bands with ornamental colours improve a male's attractiveness. The results are in concordance with a previous study of the same population, showing that males with experimentally reduced attractiveness guarded their mates more closely and advertised less for additional mates, than non-manipulated males.

  16. Dependency, self-criticism and negative affective responses following imaginary rejection and failure threats: meaning-making processes as moderators or mediators.

    PubMed

    Besser, Avi; Priel, Beatriz

    2011-01-01

    This study evaluated the intervening role of meaning-making processes in emotional responses to negative life events based on Blatt's (1974, 2004) formulations concerning the role of personality predispositions in depression. In a pre/post within-subject study design, a community sample of 233 participants reacted to imaginary scenarios of interpersonal rejection and achievement failure. Meaning-making processes relating to threats to self-definition and interpersonal relatedness were examined following the exposure to the scenarios. The results indicated that the personality predisposition of Dependency, but not Self-Criticism predicted higher levels of negative affect following the interpersonal rejection event, independent of baseline levels of negative affect. This effect was mediated by higher levels of negative meaning-making processes related to the effect of the interpersonal rejection scenario on Dependent individuals' senses of interpersonal relatedness and self-worth. In addition, both Self-Criticism and Dependency predicted higher levels of negative affect following the achievement failure event, independent of baseline levels of negative affect. Finally, the effect of Self-Criticism was mediated by higher levels of negative meaning-making processes related to the effect of the achievement failure scenario on self-critical individuals' senses of self-definition.

  17. Susceptibility of the individual caseins in reconstituted skim milk to cross-linking by transglutaminase: influence of temperature, pH and mineral equilibria.

    PubMed

    Hinz, Katharina; Huppertz, Thom; Kelly, Alan L

    2012-11-01

    The susceptibility of total casein and the individual caseins in reconstituted skim milk to transglutaminase (TGase)-induced cross-linking was studied as a function of incubation temperature (5-40 °C), pH (5·0-7·0) and mineral addition. Within the ranges studied, the level of total casein cross-linked increased with increasing temperature, pH and concentration of added trisodium citrate, whereas adding calcium chloride had the opposite effect. These effects can be largely related to the effects of these parameters on TGase activity. In addition, the parameters were also found to influence the susceptibility of κ-casein, and to a lesser extent β-casein, to cross-linking, whereas the susceptibility of αs1-casein was not affected. The susceptibility of κ-casein to cross-linking increased with increasing temperature and calcium chloride addition, but decreased with increasing pH and citrate content, whereas the susceptibility of β-casein to TGase-induced cross-linking decreased with increasing temperature, but was not affected by other parameters. These findings highlight the fact that selection of environmental conditions during cross-linking can be applied to tailor the surface, and hence possibly colloidal stability, of casein micelles in TGase-treated milk.

  18. Negative affect and past month binge eating may drive perceptions of loss of control.

    PubMed

    Bottera, A R; Thiel, A M; De Young, K P

    2018-06-06

    To evaluate how subjective control over intake is influenced by objective aspects of consumption, negative affect, and recent binge eating. 105 participants with or without current binge eating (BE) consumed a meal replacement shake following a 12-hour overnight fast in a 2 × 2 design: participants were instructed to either consume the entire shake (no control) or decide on their own how much to consume (affirmative control). They were allotted either 5 (fast) or 15 (slow) minutes to complete the task. Participants reported on subjective control and negative affect following consumption. Compared to the slow condition, participants in the fast condition reported higher negative affect after eating. Individuals without a history of BE reported lower subjective control in the no control compared to the affirmative control condition; however, this pattern was reversed among those with BE, such that individuals reported higher subjective control following consumption in the no control condition. In addition, subjective control was positively associated with negative affect in the no control condition whereas it was negatively associated with negative affect in the affirmative control condition. Eating rate influences affect, and subjective control over eating may be the result of an interaction of objective control with affect. Thus, distress may drive perceptions of control. This should be directly tested in future studies and has implications for how we understand BE. Copyright © 2018 Elsevier Ltd. All rights reserved.

  19. Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26.

    PubMed

    Parvari, R; Weinstein, Y; Ehrlich, S; Steinitz, M; Carmi, R

    1994-02-15

    The thoraco-abdominal syndrome (TAS) presents a closure defect confined to the ventral midline, manifested as ventral hernia of various degrees in all affected individuals and antero-lateral diaphragmatic defect manifested almost exclusively in affected males. The syndrome is inherited as an X-linked dominant trait affecting blastogenesis (XLB mutation). We studied 27 members of the TAS family for linkage on the X chromosome. The best lod score of 5.5 at theta 0.04 was found for the HPRT locus on Xq26.1. A multilocus lod score of 12.4 was observed when the linkage analysis utilized additional markers in Xq25-26.

  20. Income inequality and sexually transmitted in the United States: who bears the burden?

    PubMed

    Harling, Guy; Subramanian, S V; Bärnighausen, Till; Kawachi, Ichiro

    2014-02-01

    Three causal processes have been proposed to explain associations between group income inequality and individual health outcomes, each of which implies health effects for different segments of the population. We present a novel conceptual and analytic framework for the quantitative evaluation of these pathways, assessing the contribution of: (i) absolute deprivation - affecting the poor in all settings - using family income; (ii) structural inequality - affecting all those in unequal settings - using the Gini coefficient; and (iii) relative deprivation - affecting only the poor in unequal settings - using the Yitzhaki index. We conceptualize relative deprivation as the interaction of absolute deprivation and structural inequality. We test our approach using hierarchical models of 11,183 individuals in the National Longitudinal Study of Adolescent Health (Add Health). We examine the relationship between school-level inequality and sexually transmitted infections (STI) - self-reported or laboratory-confirmed Chlamydia, Gonorrhoea or Trichomoniasis. Results suggest that increased poverty and inequality were both independently associated with STI diagnosis, and that being poor in an unequal community imposed an additional risk. However, the effects of inequality and relative deprivation were confounded by individuals' race/ethnicity. Copyright © 2013 Elsevier Ltd. All rights reserved.

  1. The impact of the dimensions of environmental performance on firm performance in travel and tourism industry.

    PubMed

    Tan, Siow-Hooi; Habibullah, Muzafar Shah; Tan, Siow-Kian; Choon, Shay-Wei

    2017-12-01

    This study investigates the impact of the aggregate and individual dimensions of environmental performance (EP) on financial performance (FP), based on a dataset covering the travel and tourism industry (airlines, casinos, hotels, and restaurants) across different economic regions over the period 2003-2014. The results reveal that EP positively affects the FP in the hotel industry when aggregate EP is used. When individual dimensions of EP are considered, resource reduction is found to positively (negatively) affect the performance in the hotel (airline) industry, while product innovation positively affects the performance in the restaurant industry. Hence, the trade-off effect seems to be dominant in the airline industry, and the 'heterogeneous resources and reputation-building' hypothesis is evident in both the hotel and restaurant industries. In addition, in general, the findings support the positive moderating effect of slack resources on the relationship between the individual dimensions of EP and FP in the travel and tourism industry, and, hence, are supportive of the slack resources hypothesis. These effects, however, vary depending on the travel and tourism industry under investigation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Does informal caregiving affect self-esteem? Results from a population-based study of individuals aged 40 and over in Germany from 2002 to 2014.

    PubMed

    Hajek, André; König, Hans-Helmut

    2017-11-29

    While it is known that informal caregiving is associated with care-derived self-esteem cross-sectionally, little is known about the impact of informal caregiving on general self-esteem longitudinally. Thus, we aimed at examining whether informal caregiving affects general self-esteem using a longitudinal approach. Data were gathered from a population-based sample of community-dwelling individuals aged 40 and over in Germany from 2002 to 2014 (n = 21 271). General self-esteem was quantified using the Rosenberg scale. Individuals were asked whether they provide informal care regularly. Fixed effects regressions showed no significant effect of informal caregiving on general self-esteem longitudinally. General self-esteem decreased with increasing morbidity, increasing age, decreasing social ties, whereas it was not associated with changes in employment status, marital status and body mass index. Additional models showed that decreases in self-esteem were associated with decreases in functional health and increases in depressive symptoms. Our longitudinal study emphasises that the occurrence of informal caregiving did not affect general self-esteem longitudinally. Further research is needed in other cultural settings using panel data methods. © 2017 Nordic College of Caring Science.

  3. Testing the Grandchildren's Received Affection Scale using Affection Exchange Theory.

    PubMed

    Mansson, Daniel H

    2013-04-01

    The purpose of this study was to test the Grandchildren's Received Affection Scale (GRAS) using Affection Exchange Theory (Floyd, 2006). In accordance with Affection Exchange Theory, it was hypothesized that grandchildren's scores on the Trait Affection Received Scale (i.e., the extent to which individuals by nature receive affection) would be related significantly and positively to their reports of received affection from their grandparents (i.e., their scores on the GRAS). Additionally, a research question was asked to explore if grandchildren's received affection from their grandparents is dependent on their grandparent's biological sex or lineage (i.e., maternal vs paternal). Thus, young adult grandchildren (N = 422) completed the GRAS and the Trait Affection Received Scale. The results of zero-order Pearson correlational analyses provided support for the hypothesis, whereas the results of MANOVAs tests only partially support extant grandparent-grandchild theory and research. These findings broaden the scope of Affection Exchange Theory and also bolster the GRAS's utility in future grandparent-grandchild affectionate communication research.

  4. Tropical forest fragmentation affects floral visitors but not the structure of individual-based palm-pollinator networks.

    PubMed

    Dáttilo, Wesley; Aguirre, Armando; Quesada, Mauricio; Dirzo, Rodolfo

    2015-01-01

    Despite increasing knowledge about the effects of habitat loss on pollinators in natural landscapes, information is very limited regarding the underlying mechanisms of forest fragmentation affecting plant-pollinator interactions in such landscapes. Here, we used a network approach to describe the effects of forest fragmentation on the patterns of interactions involving the understory dominant palm Astrocaryum mexicanum (Arecaceae) and its floral visitors (including both effective and non-effective pollinators) at the individual level in a Mexican tropical rainforest landscape. Specifically, we asked: (i) Does fragment size affect the structure of individual-based plant-pollinator networks? (ii) Does the core of highly interacting visitor species change along the fragmentation size gradient? (iii) Does forest fragment size influence the abundance of effective pollinators of A. mexicanum? We found that fragment size did not affect the topological structure of the individual-based palm-pollinator network. Furthermore, while the composition of peripheral non-effective pollinators changed depending on fragment size, effective core generalist species of pollinators remained stable. We also observed that both abundance and variance of effective pollinators of male and female flowers of A. mexicanum increased with forest fragment size. These findings indicate that the presence of effective pollinators in the core of all forest fragments could keep the network structure stable along the gradient of forest fragmentation. In addition, pollination of A. mexicanum could be more effective in larger fragments, since the greater abundance of pollinators in these fragments may increase the amount of pollen and diversity of pollen donors between flowers of individual plants. Given the prevalence of fragmentation in tropical ecosystems, our results indicate that the current patterns of land use will have consequences on the underlying mechanisms of pollination in remnant forests.

  5. The relationship between somatic and cognitive-affective depression symptoms and error-related ERP’s

    PubMed Central

    Bridwell, David A.; Steele, Vaughn R.; Maurer, J. Michael; Kiehl, Kent A.; Calhoun, Vince D.

    2014-01-01

    Background The symptoms that contribute to the clinical diagnosis of depression likely emerge from, or are related to, underlying cognitive deficits. To understand this relationship further, we examined the relationship between self-reported somatic and cognitive-affective Beck’s Depression Inventory-II (BDI-II) symptoms and aspects of cognitive control reflected in error event-related potential (ERP) responses. Methods Task and assessment data were analyzed within 51 individuals. The group contained a broad distribution of depressive symptoms, as assessed by BDI-II scores. ERP’s were collected following error responses within a go/no-go task. Individual error ERP amplitudes were estimated by conducting group independent component analysis (ICA) on the electroencephalographic (EEG) time series and analyzing the individual reconstructed source epochs. Source error amplitudes were correlated with the subset of BDI-II scores representing somatic and cognitive-affective symptoms. Results We demonstrate a negative relationship between somatic depression symptoms (i.e. fatigue or loss of energy) (after regressing out cognitive-affective scores, age and IQ) and the central-parietal ERP response that peaks at 359 ms. The peak amplitudes within this ERP response were not significantly related to cognitive-affective symptom severity (after regressing out the somatic symptom scores, age, and IQ). Limitations These findings were obtained within a population of female adults from a maximum-security correctional facility. Thus, additional research is required to verify that they generalize to the broad population. Conclusions These results suggest that individuals with greater somatic depression symptoms demonstrate a reduced awareness of behavioral errors, and help clarify the relationship between clinical measures of self-reported depression symptoms and cognitive control. PMID:25451400

  6. The relationship between somatic and cognitive-affective depression symptoms and error-related ERPs.

    PubMed

    Bridwell, David A; Steele, Vaughn R; Maurer, J Michael; Kiehl, Kent A; Calhoun, Vince D

    2015-02-01

    The symptoms that contribute to the clinical diagnosis of depression likely emerge from, or are related to, underlying cognitive deficits. To understand this relationship further, we examined the relationship between self-reported somatic and cognitive-affective Beck'sDepression Inventory-II (BDI-II) symptoms and aspects of cognitive control reflected in error event-related potential (ERP) responses. Task and assessment data were analyzed within 51 individuals. The group contained a broad distribution of depressive symptoms, as assessed by BDI-II scores. ERPs were collected following error responses within a go/no-go task. Individual error ERP amplitudes were estimated by conducting group independent component analysis (ICA) on the electroencephalographic (EEG) time series and analyzing the individual reconstructed source epochs. Source error amplitudes were correlated with the subset of BDI-II scores representing somatic and cognitive-affective symptoms. We demonstrate a negative relationship between somatic depression symptoms (i.e. fatigue or loss of energy) (after regressing out cognitive-affective scores, age and IQ) and the central-parietal ERP response that peaks at 359 ms. The peak amplitudes within this ERP response were not significantly related to cognitive-affective symptom severity (after regressing out the somatic symptom scores, age, and IQ). These findings were obtained within a population of female adults from a maximum-security correctional facility. Thus, additional research is required to verify that they generalize to the broad population. These results suggest that individuals with greater somatic depression symptoms demonstrate a reduced awareness of behavioral errors, and help clarify the relationship between clinical measures of self-reported depression symptoms and cognitive control. Copyright © 2014 Elsevier B.V. All rights reserved.

  7. Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia

    PubMed Central

    Cheng, Guo; Firmato de Almeida, Manoel; So, Man-Ting; Sham, Pak-Chung; Cherny, Stacey S.; Tam, Paul Kwong-Hang; Garcia-Barceló, Maria-Mercè

    2013-01-01

    We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4). WS4 is characterized by pigmentary abnormalities of the skin, eyes and/or hair, sensorineural deafness and HSCR. None of the members had sensorineural deafness. The family was screened for copy number variations (CNVs) using Illumina-HumanOmni2.5-Beadchip and for coding sequence mutations in WS4 genes (EDN3, EDNRB, or SOX10) and in the main HSCR gene (RET). Confocal microscopy and immunoblotting were used to assess the functional impact of the mutations. A heterozygous A/G transition in EDNRB was identified in 4 affected and 3 unaffected individuals. While in EDNRB isoforms 1 and 2 (cellular receptor) the transition results in the abolishment of translation initiation (M1V), in isoform 3 (only in the cytosol) the replacement occurs at Met91 (M91V) and is predicted benign. Another heterozygous transition (c.-248G/A; -predicted to affect translation efficiency-) in the 5′-untranslated region of EDN3 (EDNRB ligand) was detected in all affected individuals but not in healthy carriers of the EDNRB mutation. Also, a de novo CNVs encompassing DACH1 was identified in the patient with heterochromia iridum and HSCR Since the EDNRB and EDN3 variants only coexist in affected individuals, HSCR could be due to the joint effect of mutations in genes of the same pathway. Iris heterochromia could be due to an independent genetic event and would account for the additional phenotype within the family. PMID:23840513

  8. Affective experience and motivated behavior in schizophrenia spectrum disorders: Evidence from clinical and nonclinical samples.

    PubMed

    Lui, Simon S Y; Shi, Yan-Fang; Au, Angie C W; Li, Zhi; Tsui, Chi F; Chan, Constance K Y; Leung, Meranda M W; Wong, Peony T Y; Wang, Yi; Yan, Chao; Heerey, Erin A; Cheung, Eric F C; Chan, Raymond C K

    2016-09-01

    Individuals with schizophrenia have been found to exhibit emotion-behavior decoupling, particularly with respect to anticipated, rather than experienced events. However, previous research has focused on how emotion valence translates into motivated behavior, ignoring the fact that emotion arousal should also modulate emotion-behavior coupling. Few studies have examined emotion-behavior coupling in prepsychotic conditions. This investigation aimed to examine the nature and extent of emotion valence- and arousal-behavior coupling across the schizophrenia spectrum. We examine how emotional valence and arousal couple with behavior in 3 groups of individuals (25 individuals with chronic schizophrenia; 27 individuals early in the disease course, and 31 individuals reporting negative schizotypal symptoms). Participants completed a task using slides to elicit emotion and evoke motivated behavior. We compared participants with their respective matched control groups to determine differences in the correspondence between self-reported emotion valence/arousal and motivated behavior. Both groups with schizophrenia reported similar affective experiences as their controls, whereas individuals reporting negative schizotypal symptoms showed "in-the-moment" anhedonia but not emotion-behavior decoupling. In addition, the schizophrenia groups' affective experiences corresponded less well to their behavior relative to controls. Our findings suggest emotion-behavior decoupling along both valence and arousal dimensions in schizophrenia but not in participants with high levels of schizotypal symptoms. Findings appear to support the idea that emotion-behavior decoupling differs in nature and extent across the schizophrenia spectrum. Interventions to recouple emotion and behavior may be particularly helpful in allowing people with schizophrenia to gain functional independence. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  9. Ecological momentary assessment of the effects of craving and affect on risk for relapse during substance abuse treatment.

    PubMed

    Moore, Todd M; Seavey, Amanda; Ritter, Kathrin; McNulty, James K; Gordon, Kristina C; Stuart, Gregory L

    2014-06-01

    The primary goals of this study were to use ecological momentary assessment (EMA) to examine the extent to which proximal factors (cravings and affect) were temporally associated with relapse, and to assess the role of distal factors (e.g., coping styles) in moderating these associations. We also examined whether using EMA procedures impacted relapse rates. A sample of 100 male (n = 66) and female (n = 34) patients entering outpatient treatment for substance abuse completed a baseline assessment of substance dependence, stress, social support, coping styles, family history of substance abuse, and self-efficacy. Half of the participants were randomly assigned to receive training in using a handheld computer to respond to 3 random prompts each day for 4 months regarding cravings, affect, and substance use. All participants completed 2- and 4-month follow-up assessments of substance use. Results showed that using EMA procedures did not influence relapse rates. Hierarchical linear modeling showed that individuals who reported an increase in cravings on a given prompt were 14 times more likely to report relapse on the subsequent prompt than individuals who did not experience an increase in cravings. In addition, women, older individuals, and individuals who use distraction and disengagement as coping styles were at increased risk for relapse when experiencing an increase in cravings. Individuals who use acceptance as a coping style were at decreased risk for relapse when experiencing an increase in cravings. The study highlights the importance of tailoring treatments to address the needs of particular individuals and risk factors.

  10. Spatially divergent cardiac responses to nicotinic stimulation of ganglionated plexus neurons in the canine heart.

    PubMed

    Cardinal, René; Pagé, Pierre; Vermeulen, Michel; Ardell, Jeffrey L; Armour, J Andrew

    2009-01-28

    Ganglionated plexuses (GPs) are major constituents of the intrinsic cardiac nervous system, the final common integrator of regional cardiac control. We hypothesized that nicotinic stimulation of individual GPs exerts divergent regional influences, affecting atrial as well as ventricular functions. In 22 anesthetized canines, unipolar electrograms were recorded from 127 atrial and 127 ventricular epicardial loci during nicotine injection (100 mcg in 0.1 ml) into either the 1) right atrial (RA), 2) dorsal atrial, 3) left atrial, 4) inferior vena cava-inferior left atrial, 5) right ventricular, 6) ventral septal ventricular or 7) cranial medial ventricular (CMV) GP. In addition to sinus and AV nodal function, neural effects on atrial and ventricular repolarization were identified as changes in the area subtended by unipolar recordings under basal conditions and at maximum neurally-induced effects. Animals were studied with intact AV node or following ablation to achieve ventricular rate control. Atrial rate was affected in response to stimulation of all 7 GPs with an incidence of 50-95% of the animals among the different GPs. AV conduction was affected following stimulation of 6/7 GP with an incidence of 22-75% among GPs. Atrial and ventricular repolarization properties were affected by atrial as well as ventricular GP stimulation. Distinct regional patterns of repolarization changes were identified in response to stimulation of individual GPs. RAGP predominantly affected the RA and posterior right ventricular walls whereas CMVGP elicited biatrial and biventricular repolarization changes. Spatially divergent and overlapping cardiac regions are affected in response to nicotinic stimulation of neurons in individual GPs.

  11. Sibling Relationships during the Transition to Adulthood

    PubMed Central

    Conger, Katherine Jewsbury; Little, Wendy M.

    2009-01-01

    Recent research has shed new light on individual development during the early adulthood years, yet few investigators have examined sibling relationships during this stage of life. These relationships undergo transformations as individuals enter adult roles and orient their lives towards friends and romantic partners and establish independence from parents and siblings. This review examines major life events and role transitions such as leaving home, completing school, obtaining employment, getting married, and having children that influence individuals and their sibling relationships. In addition, the review considers how sibling relationships may affect individuals during the transition to adulthood, and considers the context of family and culture. The article concludes with suggestions for future research on sibling relationships during early adulthood and beyond. PMID:20700389

  12. Stigma by Prejudice Transfer: Racism Threatens White Women and Sexism Threatens Men of Color.

    PubMed

    Sanchez, Diana T; Chaney, Kimberly E; Manuel, Sara K; Wilton, Leigh S; Remedios, Jessica D

    2017-04-01

    In the current research, we posited the stigma-by-prejudice-transfer effect, which proposes that stigmatized group members (e.g., White women) are threatened by prejudice that is directed at other stigmatized group members (e.g., African Americans) because they believe that prejudice has monolithic qualities. While most stigma researchers assume that there is a direct correspondence between the attitude of prejudiced individuals and the targets (i.e., sexism affects women, racism affects racial minorities), the five studies reported here demonstrate that White women can be threatened by racism (Study 1, 3, 4, and 5) and men of color by sexism (Study 2). Robust to perceptions of liking and the order in which measures were administered, results showed that prejudice transfers between racism and sexism were driven by the presumed social dominance orientation of the prejudiced individual. In addition, important downstream consequences, such as the increased likelihood of anticipated stigma, expectations of unfair treatment, and the attribution of negative feedback to sexism, appeared for stigmatized individuals.

  13. Exercise and multiple sclerosis: physiological, psychological, and quality of life issues.

    PubMed

    Sutherland, G; Andersen, M B

    2001-12-01

    The case for the benefits of physical activity has been well documented in healthy individuals, and the potential for reducing the risk of mental and physical ill health is substantial. Yet, individuals with multiple sclerosis (MS) have long been advised to avoid participation in exercise in order to minimise the risk of exacerbations and symptoms of fatigue. There is, however, increasing interest in how acute and chronic exercise affect physiological and psychological functioning in MS. Much of the research has examined physiological tolerance to exercise and focused on responses in terms of heart rate, blood pressure, cardiorespiratory fitness, muscle function, and symptom stability. Little research has focused on understanding how exercise affects psychosocial functioning and brings about changes in depression, affect, mood, well-being, and quality of life. This paper provides a summary of the research exploring the efficacy of physical activity for people with MS. In addition, the key issues that face clinical practice are examined, and considerations for research are discussed.

  14. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

    PubMed

    Vaché, Christel; Besnard, Thomas; le Berre, Pauline; García-García, Gema; Baux, David; Larrieu, Lise; Abadie, Caroline; Blanchet, Catherine; Bolz, Hanno Jörn; Millan, Jose; Hamel, Christian; Malcolm, Sue; Claustres, Mireille; Roux, Anne-Françoise

    2012-01-01

    USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. As the patients carried a common USH2A haplotype, they likely shared a mutation not found by standard sequencing techniques. Analysis of RNA from nasal cells in one affected individual identified an additional pseudoexon (PE) resulting from a deep intronic mutation. This was confirmed by minigene assay. This is the first example in Usher syndrome (USH) with a mutation causing activation of a PE. The finding of this alteration in eight other individuals of mixed European origin emphasizes the importance of including RNA analysis in a comprehensive diagnostic service. Finally, this mutation, which would not have been found by whole-exome sequencing, could offer, for the first time in USH, the possibility of therapeutic correction by antisense oligonucleotides (AONs). © 2011 Wiley Periodicals, Inc.

  15. EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

    PubMed Central

    Best, D. Hunter; Sumner, Kelli L.; Austin, Eric D.; Chung, Wendy K.; Brown, Lynette M.; Borczuk, Alain C.; Rosenzweig, Erika B.; Bayrak-Toydemir, Pinar; Mao, Rong; Cahill, Barbara C.; Tazelaar, Henry D.; Leslie, Kevin O.; Hemnes, Anna R.; Robbins, Ivan M.

    2014-01-01

    Background: Pulmonary capillary hemangiomatosis (PCH) is a rare disease of capillary proliferation of unknown cause and with a high mortality. Families with multiple affected individuals with PCH suggest a heritable cause although the genetic etiology remains unknown. Methods: We used exome sequencing to identify a candidate gene for PCH in a family with two affected brothers. We then screened 11 unrelated patients with familial (n = 1) or sporadic (n = 10) PCH for mutations. Results: Using exome sequencing, we identified compound mutations in eukaryotic translation initiation factor 2 α kinase 4 (EIF2AK4) (formerly known as GCN2) in both affected brothers. Both parents and an unaffected sister were heterozygous carriers. In addition, we identified two EIF2AK4 mutations in each of two of 10 unrelated individuals with sporadic PCH. EIF2AK4 belongs to a family of kinases that regulate angiogenesis in response to cellular stress. Conclusions: Mutations in EIF2AK4 are likely to cause autosomal-recessive PCH in familial and some nonfamilial cases. PMID:24135949

  16. The Influence of Chronic and Situational Social Status on Stereotype Susceptibility

    PubMed Central

    Pillaud, Vincent; Rigaud, David; Clémence, Alain

    2015-01-01

    We tested whether stereotypical situations would affect low-status group members' performance more strongly than high-status group members'. Experiment 1 and 2 tested this hypothesis using gender as a proxy of chronic social status and a gender-neutral task that has been randomly presented to favor boys (men superiority condition), favor girls (women superiority condition), or show no gender preference (control condition). Both experiments found that women’s (Experiment 1) and girls’ performance (Experiment 2) suffered more from the evoked stereotypes than did men's and boys’ ones. This result was replicated in Experiment 3, indicating that short men (low-status group) were more affected compared to tall men (high-status group). Additionally, men were more affected compared to women when they perceived height as a threat. Hence, individuals are more or less vulnerable to identity threats as a function of the chronic social status at play; enjoying a high status provides protection and endorsing a low one weakens individual performance in stereotypical situations. PMID:26645829

  17. The Influence of Chronic and Situational Social Status on Stereotype Susceptibility.

    PubMed

    Pillaud, Vincent; Rigaud, David; Clémence, Alain

    2015-01-01

    We tested whether stereotypical situations would affect low-status group members' performance more strongly than high-status group members'. Experiment 1 and 2 tested this hypothesis using gender as a proxy of chronic social status and a gender-neutral task that has been randomly presented to favor boys (men superiority condition), favor girls (women superiority condition), or show no gender preference (control condition). Both experiments found that women's (Experiment 1) and girls' performance (Experiment 2) suffered more from the evoked stereotypes than did men's and boys' ones. This result was replicated in Experiment 3, indicating that short men (low-status group) were more affected compared to tall men (high-status group). Additionally, men were more affected compared to women when they perceived height as a threat. Hence, individuals are more or less vulnerable to identity threats as a function of the chronic social status at play; enjoying a high status provides protection and endorsing a low one weakens individual performance in stereotypical situations.

  18. A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families.

    PubMed

    Hettinger, Joe A; Liu, Xudong; Schwartz, Charles E; Michaelis, Ron C; Holden, Jeanette J A

    2008-07-05

    Individuals with autism spectrum disorders (ASDs) have impairments in executive function and social cognition, with males generally being more severely affected in these areas than females. Because the dopamine D1 receptor (encoded by DRD1) is integral to the neural circuitry mediating these processes, we examined the DRD1 gene for its role in susceptibility to ASDs by performing single marker and haplotype case-control comparisons, family-based association tests, and genotype-phenotype assessments (quantitative transmission disequilibrium tests: QTDT) using three DRD1 polymorphisms, rs265981C/T, rs4532A/G, and rs686T/C. Our previous findings suggested that the dopaminergic system may be more integrally involved in families with affected males only than in other families. We therefore restricted our study to families with two or more affected males (N = 112). There was over-transmission of rs265981-C and rs4532-A in these families (P = 0.040, P = 0.038), with haplotype TDT analysis showing over-transmission of the C-A-T haplotype (P = 0.022) from mothers to affected sons (P = 0.013). In addition, haplotype case-control comparisons revealed an increase of this putative risk haplotype in affected individuals relative to a comparison group (P = 0.004). QTDT analyses showed associations of the rs265981-C, rs4532-A, rs686-T alleles, and the C-A-T haplotype with more severe problems in social interaction, greater difficulties with nonverbal communication and increased stereotypies compared to individuals with other haplotypes. Preferential haplotype transmission of markers at the DRD1 locus and an increased frequency of a specific haplotype support the DRD1 gene as a risk gene for core symptoms of ASD in families having only affected males. Copyright 2008 Wiley-Liss, Inc.

  19. Relationships between the floral neighborhood and individual pollen limitation in two self-incompatible herbs.

    PubMed

    Jakobsson, Anna; Lázaro, Amparo; Totland, Orjan

    2009-07-01

    Local flower density can affect pollen limitation and plant reproductive success through changes in pollinator visitation and availability of compatible pollen. Many studies have investigated the relationship between conspecific density and pollen limitation among populations, but less is known about within-population relationships and the effect of heterospecific flower density. In addition, few studies have explicitly assessed how the spatial scales at which flowers are monitored affect relationships. We investigated the effect of floral neighborhood on pollen limitation at four spatial scales in the self-incompatible herbs Armeria maritima spp. maritima and Ranunculus acris spp. acris. Moreover, we measured pollen deposition in Armeria and pollinator visits to Ranunculus. There was substantial variation in pollen limitation among Armeria individuals, and 25% of this variation was explained by the density of compatible and heterospecific flowers within a 3 m circle. Deposition of compatible pollen was affected by the density of compatible and incompatible inflorescences within a 0.5 m circle, and deposition of heterospecific pollen was affected by the density of heterospecific flowers within a 2 m circle. In Ranunculus, the number of pollinator visits was affected by both conspecific and heterospecific flower densities. This did not, however, result in effects of the floral neighborhood on pollen limitation, probably due to an absence of pollen limitation at the population level. Our study shows that considerable variation in pollen limitation may occur among individuals of a population, and that this variation is partly explained by floral neighborhood density. Such individual-based measures provide an important link between pollen limitation theory, which predicts ecological and evolutionary causes and consequences for individual plants, and studies of the effects of landscape fragmentation on plant species persistence. Our study also highlights the importance of considering multiple spatial scales to understand the spatial extent of pollination processes within a population.

  20. Deleterious Mutations, Apparent Stabilizing Selection and the Maintenance of Quantitative Variation

    PubMed Central

    Kondrashov, A. S.; Turelli, M.

    1992-01-01

    Apparent stabilizing selection on a quantitative trait that is not causally connected to fitness can result from the pleiotropic effects of unconditionally deleterious mutations, because as N. Barton noted, ``... individuals with extreme values of the trait will tend to carry more deleterious alleles ....'' We use a simple model to investigate the dependence of this apparent selection on the genomic deleterious mutation rate, U; the equilibrium distribution of K, the number of deleterious mutations per genome; and the parameters describing directional selection against deleterious mutations. Unlike previous analyses, we allow for epistatic selection against deleterious alleles. For various selection functions and realistic parameter values, the distribution of K, the distribution of breeding values for a pleiotropically affected trait, and the apparent stabilizing selection function are all nearly Gaussian. The additive genetic variance for the quantitative trait is kQa(2), where k is the average number of deleterious mutations per genome, Q is the proportion of deleterious mutations that affect the trait, and a(2) is the variance of pleiotropic effects for individual mutations that do affect the trait. In contrast, when the trait is measured in units of its additive standard deviation, the apparent fitness function is essentially independent of Q and a(2); and β, the intensity of selection, measured as the ratio of additive genetic variance to the ``variance'' of the fitness curve, is very close to s = U/k, the selection coefficient against individual deleterious mutations at equilibrium. Therefore, this model predicts appreciable apparent stabilizing selection if s exceeds about 0.03, which is consistent with various data. However, the model also predicts that β must equal V(m)/V(G), the ratio of new additive variance for the trait introduced each generation by mutation to the standing additive variance. Most, although not all, estimates of this ratio imply apparent stabilizing selection weaker than generally observed. A qualitative argument suggests that even when direct selection is responsible for most of the selection observed on a character, it may be essentially irrelevant to the maintenance of variation for the character by mutation-selection balance. Simple experiments can indicate the fraction of observed stabilizing selection attributable to the pleiotropic effects of deleterious mutations. PMID:1427047

  1. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

    PubMed

    Divisato, Giuseppina; Formicola, Daniela; Esposito, Teresa; Merlotti, Daniela; Pazzaglia, Laura; Del Fattore, Andrea; Siris, Ethel; Orcel, Philippe; Brown, Jacques P; Nuti, Ranuccio; Strazzullo, Pasquale; Benassi, Maria Serena; Cancela, M Leonor; Michou, Laetitia; Rendina, Domenico; Gennari, Luigi; Gianfrancesco, Fernando

    2016-02-04

    Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-affected members, four of whom developed GCT at multiple pagetic skeletal sites, and we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (ZNF687). The mutation precisely co-segregated with the clinical phenotype in all affected family members. The sequencing of seven unrelated individuals with GCT associated with PDB (GCT/PDB) identified the same mutation in all individuals, unravelling a founder effect. ZNF687 is highly expressed during osteoclastogenesis and osteoblastogenesis and is dramatically upregulated in the tumor tissue of individuals with GCT/PDB. Interestingly, our preliminary findings showed that ZNF687, indicated as a target gene of the NFkB transcription factor by ChIP-seq analysis, is also upregulated in the peripheral blood of PDB-affected individuals with (n = 5) or without (n = 6) mutations in SQSTM1, encouraging additional studies to investigate its potential role as a biomarker of PDB risk. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  2. Evolution in fluctuating environments: decomposing selection into additive components of the Robertson-Price equation.

    PubMed

    Engen, Steinar; Saether, Bernt-Erik

    2014-03-01

    We analyze the stochastic components of the Robertson-Price equation for the evolution of quantitative characters that enables decomposition of the selection differential into components due to demographic and environmental stochasticity. We show how these two types of stochasticity affect the evolution of multivariate quantitative characters by defining demographic and environmental variances as components of individual fitness. The exact covariance formula for selection is decomposed into three components, the deterministic mean value, as well as stochastic demographic and environmental components. We show that demographic and environmental stochasticity generate random genetic drift and fluctuating selection, respectively. This provides a common theoretical framework for linking ecological and evolutionary processes. Demographic stochasticity can cause random variation in selection differentials independent of fluctuating selection caused by environmental variation. We use this model of selection to illustrate that the effect on the expected selection differential of random variation in individual fitness is dependent on population size, and that the strength of fluctuating selection is affected by how environmental variation affects the covariance in Malthusian fitness between individuals with different phenotypes. Thus, our approach enables us to partition out the effects of fluctuating selection from the effects of selection due to random variation in individual fitness caused by demographic stochasticity. © 2013 The Author(s). Evolution © 2013 The Society for the Study of Evolution.

  3. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

    PubMed Central

    Divisato, Giuseppina; Formicola, Daniela; Esposito, Teresa; Merlotti, Daniela; Pazzaglia, Laura; Del Fattore, Andrea; Siris, Ethel; Orcel, Philippe; Brown, Jacques P.; Nuti, Ranuccio; Strazzullo, Pasquale; Benassi, Maria Serena; Cancela, M. Leonor; Michou, Laetitia; Rendina, Domenico; Gennari, Luigi; Gianfrancesco, Fernando

    2016-01-01

    Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-affected members, four of whom developed GCT at multiple pagetic skeletal sites, and we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (ZNF687). The mutation precisely co-segregated with the clinical phenotype in all affected family members. The sequencing of seven unrelated individuals with GCT associated with PDB (GCT/PDB) identified the same mutation in all individuals, unravelling a founder effect. ZNF687 is highly expressed during osteoclastogenesis and osteoblastogenesis and is dramatically upregulated in the tumor tissue of individuals with GCT/PDB. Interestingly, our preliminary findings showed that ZNF687, indicated as a target gene of the NFkB transcription factor by ChIP-seq analysis, is also upregulated in the peripheral blood of PDB-affected individuals with (n = 5) or without (n = 6) mutations in SQSTM1, encouraging additional studies to investigate its potential role as a biomarker of PDB risk. PMID:26849110

  4. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

    PubMed

    El-Hattab, Ayman W; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J; Afqi, Manal; Saleh, Mohammed A M; Faqeih, Eissa A; Alzaidan, Hamad I; Alshenqiti, Abduljabbar; Flore, Leigh Anne; Hertecant, Jozef; Sacharow, Stephanie; Barbouth, Deborah S; Murayama, Kei; Shah, Amit A; Lin, Henry C; Wong, Lee-Jun C

    2018-04-01

    Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with nine novel MPV17 pathogenic variants. We summarize the clinical features of all 100 affected individuals and review the total 48 MPV17 pathogenic variants. The vast majority of affected individuals presented with an early-onset encephalohepatopathic disease characterized by hepatic and neurological manifestations, failure to thrive, lactic acidemia, and mtDNA depletion detected mainly in liver tissue. Rarely, MPV17 deficiency can cause a late-onset neuromyopathic disease characterized by myopathy and peripheral neuropathy with no or minimal liver involvement. Approximately half of the MPV17 pathogenic variants are missense. A genotype with biallelic missense variants, in particular homozygous p.R50Q, p.P98L, and p.R41Q, can carry a relatively better prognosis. © 2017 Wiley Periodicals, Inc.

  5. Explaining Differences in Subjective Well-Being Across 33 Nations Using Multilevel Models: Universal Personality, Cultural Relativity, and National Income.

    PubMed

    Cheng, Cecilia; Cheung, Mike W-L; Montasem, Alex

    2016-02-01

    This multinational study simultaneously tested three prominent hypotheses--universal disposition, cultural relativity, and livability--that explained differences in subjective well-being across nations. We performed multilevel structural equation modeling to examine the hypothesized relationships at both individual and cultural levels in 33 nations. Participants were 6,753 university students (2,215 men; 4,403 women; 135 did not specify), and the average age of the entire sample was 20.97 years (SD = 2.39). Both individual- and cultural-level analyses supported the universal disposition and cultural relativity hypotheses by revealing significant associations of subjective well-being with Extraversion, Neuroticism, and independent self-construal. In addition, interdependent self-construal was positively related to life satisfaction at the individual level only, whereas aggregated negative affect was positively linked with aggregate levels of Extraversion and interdependent self-construal at the cultural level only. Consistent with the livability hypothesis, gross national income (GNI) was related to aggregate levels of negative affect and life satisfaction. There was also a quadratic relationship between GNI and aggregated positive affect. Our findings reveal that universal disposition, cultural self-construal, and national income can elucidate differences in subjective well-being, but the multilevel analyses advance the literature by yielding new findings that cannot be identified in studies using individual-level analyses alone. © 2014 Wiley Periodicals, Inc.

  6. Unravel the key genes potentially related to high strength of cotton fiber by comparative phenotypic and genomic analyses

    USDA-ARS?s Scientific Manuscript database

    The demand of high strength of cotton fibers has been increased dramatically with the advent of modern high speed spinning technology for producing yarn. Bundle fiber strength is affected by fiber-to-fiber interactions in addition to the individual fiber strength. The bundle fiber strength is not al...

  7. The Experiences of Living with a Sibling Who Stutters: A Preliminary Study

    ERIC Educational Resources Information Center

    Beilby, Janet M.; Byrnes, Michelle L.; Young, Kate N.

    2012-01-01

    Stuttering impacts on the child in a variety of ways, notably in terms of communicative impairment and psychosocial impact. In addition, the stuttering disorder has a holistic impact, affecting those with whom the child who stutters lives. Within the family constellation, the closest person to the individual who stutters is often their sibling.…

  8. "You Needed to Rehab...Families as Well": Family Members' Own Goals for Aphasia Rehabilitation

    ERIC Educational Resources Information Center

    Howe, Tami; Davidson, Bronwyn; Worrall, Linda; Hersh, Deborah; Ferguson, Alison; Sherratt, Sue; Gilbert, Jocelyn

    2012-01-01

    Background: Aphasia affects family members in addition to the individuals with the communication disorder. In order to develop appropriate services for the relatives of people with aphasia post-stroke, their rehabilitation goals need to be identified. Aim: The aim of the current investigation was to identify the rehabilitation goals that family…

  9. Mechanisms of Individual Differences in Impulsive and Risky Choice in Rats

    PubMed Central

    Kirkpatrick, Kimberly; Marshall, Andrew T.; Smith, Aaron P.

    2016-01-01

    Individual differences in impulsive and risky choice are key risk factors for a variety of maladaptive behaviors such as drug abuse, gambling, and obesity. In our rat model, ordered individual differences are stable across choice parameters, months of testing, and span a broad spectrum, suggesting that rats, like humans, exhibit trait-level impulsive and risky choice behaviors. In addition, impulsive and risky choices are highly correlated, suggesting a degree of correlation between these two traits. An examination of the underlying cognitive mechanisms has suggested an important role for timing processes in impulsive choice. In addition, in an examination of genetic factors in impulsive choice, the Lewis rat strain emerged as a possible animal model for studying disordered impulsive choice, with this strain demonstrating deficient delay processing. Early rearing environment also affected impulsive behaviors, with rearing in an enriched environment promoting adaptable and more self-controlled choices. The combined results with impulsive choice suggest an important role for timing and reward sensitivity in moderating impulsive behaviors. Relative reward valuation also affects risky choice, with manipulation of objective reward value (relative to an alternative reference point) resulting in loss chasing behaviors that predicted overall risky choice behaviors. The combined results are discussed in relation to domain-specific versus domain-general subjective reward valuation processes and the potential neural substrates of impulsive and risky choice. PMID:27695580

  10. Dynamics of epidemic spreading with vaccination: Impact of social pressure and engagement

    NASA Astrophysics Data System (ADS)

    Pires, Marcelo A.; Crokidakis, Nuno

    2017-02-01

    In this work we consider a model of epidemic spreading coupled with an opinion dynamics in a fully-connected population. Regarding the opinion dynamics, the individuals may be in two distinct states, namely in favor or against a vaccination campaign. Individuals against the vaccination follow a standard SIS model, whereas the pro-vaccine individuals can also be in a third compartment, namely Vaccinated. In addition, the opinions change according to the majority-rule dynamics in groups with three individuals. We also consider that the vaccine can give permanent or temporary immunization to the individuals. By means of analytical calculations and computer simulations, we show that the opinion dynamics can drastically affect the disease propagation, and that the engagement of the pro-vaccine individuals can be crucial for stopping the epidemic spreading. The full numerical code for simulating the model is available from the authors' webpage.

  11. Taekwondo Fighting in Training Does Not Simulate the Affective and Cognitive Demands of Competition: Implications for Behavior and Transfer.

    PubMed

    Maloney, Michael A; Renshaw, Ian; Headrick, Jonathon; Martin, David T; Farrow, Damian

    2018-01-01

    Enhancing practice design is critical to facilitate transfer of learning. Considerable research has focused on the role of perceptual information in practice simulation, yet has neglected how affect and cognition are shaped by practice environments and whether this influences the fidelity of behavior (Headrick et al., 2015). This study filled this gap by examining the fidelity of individual (cognition, affect, and actions) and interpersonal behavior of 10 highly skilled Australian Taekwondo athletes fighting in training compared to competition. Interpersonal behavior was assessed by tracking location coordinates to analyze distance-time coordination tendencies of the fighter-fighter system. Individual actions were assessed through notational analysis and approximate entropy calculations of coordinate data to quantify the (un)predictability of movement displacement. Affect and cognition were assessed with mixed-methods that included perceptual scales measuring anxiety, arousal, and mental effort, and post-fight video-facilitated confrontational interviews to explore how affect and cognitions might differ. Quantitative differences were assessed with mixed models and dependent t -tests. Results reveal that individual and interpersonal behavior differed between training and competition. In training, individuals attacked less ( d = 0.81, p < 0.05), initiated attacks from further away ( d = -0.20, p < 0.05) and displayed more predictable movement trajectories ( d = 0.84, p < 0.05). In training, fighters had lower anxiety ( d = -1.26, p < 0.05), arousal ( d = -1.07, p < 0.05), and mental effort ( d = -0.77, p < 0.05). These results were accompanied by changes in interpersonal behavior, with larger interpersonal distances generated by the fighter-fighter system in training ( d = 0.80, p < 0.05). Qualitative data revealed the emergence of cognitions and affect specific to the training environment, such as reductions in pressure, arousal, and mental challenge. Findings highlight the specificity of performer-environment interactions. Fighting in training affords reduced affective and cognitive demands and a decrease in action fidelity compared to competition. In addition to sampling information, representative practice needs to consider modeling the cognitions and affect of competition to enhance transfer.

  12. Taekwondo Fighting in Training Does Not Simulate the Affective and Cognitive Demands of Competition: Implications for Behavior and Transfer

    PubMed Central

    Maloney, Michael A.; Renshaw, Ian; Headrick, Jonathon; Martin, David T.; Farrow, Damian

    2018-01-01

    Enhancing practice design is critical to facilitate transfer of learning. Considerable research has focused on the role of perceptual information in practice simulation, yet has neglected how affect and cognition are shaped by practice environments and whether this influences the fidelity of behavior (Headrick et al., 2015). This study filled this gap by examining the fidelity of individual (cognition, affect, and actions) and interpersonal behavior of 10 highly skilled Australian Taekwondo athletes fighting in training compared to competition. Interpersonal behavior was assessed by tracking location coordinates to analyze distance-time coordination tendencies of the fighter–fighter system. Individual actions were assessed through notational analysis and approximate entropy calculations of coordinate data to quantify the (un)predictability of movement displacement. Affect and cognition were assessed with mixed-methods that included perceptual scales measuring anxiety, arousal, and mental effort, and post-fight video-facilitated confrontational interviews to explore how affect and cognitions might differ. Quantitative differences were assessed with mixed models and dependent t-tests. Results reveal that individual and interpersonal behavior differed between training and competition. In training, individuals attacked less (d = 0.81, p < 0.05), initiated attacks from further away (d = -0.20, p < 0.05) and displayed more predictable movement trajectories (d = 0.84, p < 0.05). In training, fighters had lower anxiety (d = -1.26, p < 0.05), arousal (d = -1.07, p < 0.05), and mental effort (d = -0.77, p < 0.05). These results were accompanied by changes in interpersonal behavior, with larger interpersonal distances generated by the fighter–fighter system in training (d = 0.80, p < 0.05). Qualitative data revealed the emergence of cognitions and affect specific to the training environment, such as reductions in pressure, arousal, and mental challenge. Findings highlight the specificity of performer–environment interactions. Fighting in training affords reduced affective and cognitive demands and a decrease in action fidelity compared to competition. In addition to sampling information, representative practice needs to consider modeling the cognitions and affect of competition to enhance transfer. PMID:29445348

  13. Emotional response to a therapeutic technique: The social Broad Minded Affective Coping.

    PubMed

    Holden, Natasha; Kelly, James; Welford, Mary; Taylor, Peter J

    2017-03-01

    It has been suggested that savouring positive memories can generate positive emotions. Increasing positive emotion can have a range of benefits including reducing attention to and experiences of threat. This study investigated individuals' emotional reactions to a guided mental imagery task focussing on positive social memory called the 'social Broad Minded Affective Coping (BMAC)' technique. The study examined possible predictors of individuals' responses to this intervention. An internet-based, within-group, repeated-measures design was used. One hundred and twenty-three participants completed self-report measures of self-attacking and social safeness/pleasure. They were then guided through the social BMAC. Participants completed state measures of positive and negative affect and social safeness/pleasure before and after the intervention. Forty-nine participants took part in a 2-week follow-up. It was found that safe/warm positive affect, relaxed positive affect and feelings of social safeness increased following the social BMAC, whilst negative affect decreased. In addition, it was found that people scoring higher on inadequate self-attacking benefited most from this intervention. Changes in affect were not maintained at the 2-week follow-up. The results provide preliminary support for the efficacy of the social BMAC in activating specific types of mood (those associated with safeness rather than drive/reward). This task has potential as part of therapeutic interventions directed at clinical groups, but further evaluation is needed. The social Broad Minded Affective Coping (BMAC) was related to improvements in forms of positive affect linked to the affiliative system. This task may be helpful in inducing these positive mood states within therapy. Further evaluation comparing the BMAC to a control task is needed. Individuals with a greater fear of compassion or more hated-self-criticism may gain less from the task, although effects were small. © 2016 The Authors. Psychology and Psychotherapy: Theory, Research and Practice published by John Wiley & Sons Ltd on behalf of the British Psychological Society.

  14. The moderating role of state inhibitory control in the effect of evaluative conditioning on temptation and unhealthy snacking.

    PubMed

    Haynes, Ashleigh; Kemps, Eva; Moffitt, Robyn

    2015-12-01

    The current study sought to test the effect of a brief evaluative conditioning intervention on experienced temptation to indulge, and consumption of, unhealthy snack foods. We expected that a training task associating unhealthy food with negative affect would result in lower experienced temptation across the sample, but would lead to lower snack consumption only among individuals with low state inhibitory control. Undergraduate women (N=134) aged 17-25 years were randomised to complete an evaluative conditioning procedure pairing unhealthy food with either positive or negative affect. Snack consumption was subsequently assessed using a taste-test procedure which offered four snack foods for ad libitum consumption. Participants also reported the strength of their experienced temptation to indulge in the foods presented. Additionally, they completed a Stop Signal Task as a measure of state inhibitory control. As predicted, participants in the food negative condition ate less than those in the food positive condition, but this effect was only observed among individuals with low inhibitory control. The same moderation pattern was observed for the effect of evaluative conditioning on temptation: only participants with low inhibitory control reported feeling less tempted by the snack foods in the food negative condition compared to the food positive condition. In addition, temptation mediated the effect of evaluative conditioning on intake for individuals with low inhibitory control. Findings suggest that evaluative conditioning of unhealthy food stimuli could be especially useful for reducing temptation and consumption of unhealthy snacks in situations where individuals experience low inhibitory control capacity. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Comparing the validity of informant and self-reports of personality using laboratory indices of emotional responding as criterion variables.

    PubMed

    Lieberman, Lynne; Liu, Huiting; Huggins, Ashley A; Katz, Andrea C; Zvolensky, Michael J; Shankman, Stewart A

    2016-09-01

    Personality traits relate to risk for psychopathology and can inform predictions about treatment outcome. In an effort to obtain a comprehensive index of personality, informant reports of personality are sometimes obtained in addition to self-reports of personality. However, there is limited research comparing the validity of self- and informant reports of personality, particularly among those with internalizing psychopathology. This is important given that informants may provide an additional (and perhaps different) perspective on individuals' personality. The present study therefore compared how both reports of positive affectivity (PA) and negative affectivity (NA) relate to psychophysiological and subjective measures of emotional responding to positive and negative stimuli. Given that our sample (n = 117) included individuals with no history of psychopathology, as well as individuals with major depressive disorder (MDD) and/or panic disorder (PD), we were also able to explore whether these internalizing diagnoses moderated the association between personality reports and measures of emotional responding. Informant-reported PA predicted physiological responses to positive stimuli (but not negative). Informant-reported NA predicted physiological responses to negative stimuli (but not positive). Self-reported personality did not predict physiological responding, but did predict subjectively measured emotional responding (NA for negative responding, PA for positive responding). Diagnoses of internalizing psychopathology (PD or MDD) did not moderate these associations. Results suggest self- and informant reports of personality may each provide valid indices of an individual's emotional response tendencies, but predict different aspects of those tendencies. © 2016 Society for Psychophysiological Research.

  16. Individuals with chronic ankle instability exhibit dynamic postural stability deficits and altered unilateral landing biomechanics: A systematic review.

    PubMed

    Simpson, Jeffrey D; Stewart, Ethan M; Macias, David M; Chander, Harish; Knight, Adam C

    2018-06-13

    To evaluate the literature regarding unilateral landing biomechanics and dynamic postural stability in individuals with and without chronic ankle instability (CAI). Four online databases (PubMed, ScienceDirect, Scopus, and SportDiscus) were searched from the earliest records to 31 January 2018, as well as reference sections of related journal articles, to complete the systematic search. Studies investigating the influence of CAI on unilateral landing biomechanics and dynamic postural stability were systematically reviewed and evaluated. Twenty articles met the criteria and were included in the systematic review. Individuals with CAI were found to have deficits in dynamic postural stability on the affected limb with medium to large effect sizes and altered lower extremity kinematics, most notably in the ankle and knee, with medium to large effect sizes. Additionally, greater loading rates and peak ground reaction forces, in addition to reductions in ankle muscle activity were also found in individuals with CAI during unilateral jump-landing tasks. Individuals with CAI demonstrate dynamic postural stability deficits, lower extremity kinematic alterations, and reduced neuromuscular control during unilateral jump-landings. These are likely factors that contribute recurrent lateral ankle sprain injuries during dynamic activity in individuals with CAI. Copyright © 2018 Elsevier Ltd. All rights reserved.

  17. Neuroforecasting Aggregate Choice

    PubMed Central

    Knutson, Brian; Genevsky, Alexander

    2018-01-01

    Advances in brain-imaging design and analysis have allowed investigators to use neural activity to predict individual choice, while emerging Internet markets have opened up new opportunities for forecasting aggregate choice. Here, we review emerging research that bridges these levels of analysis by attempting to use group neural activity to forecast aggregate choice. A survey of initial findings suggests that components of group neural activity might forecast aggregate choice, in some cases even beyond traditional behavioral measures. In addition to demonstrating the plausibility of neuroforecasting, these findings raise the possibility that not all neural processes that predict individual choice forecast aggregate choice to the same degree. We propose that although integrative choice components may confer more consistency within individuals, affective choice components may generalize more broadly across individuals to forecast aggregate choice. PMID:29706726

  18. Enhanced Chemosensory Detection of Negative Emotions in Congenital Blindness

    PubMed Central

    Iversen, Katrine D.; Ptito, Maurice; Møller, Per; Kupers, Ron

    2015-01-01

    It is generally acknowledged that congenitally blind individuals develop superior sensory abilities in order to compensate for their lack of vision. Substantial research has been done on somatosensory and auditory sensory information processing of the blind. However, relatively little information is available about compensatory plasticity in the olfactory domain. Although previous studies indicate that blind individuals have superior olfactory abilities, no studies so far have investigated their sense of smell in relation to social and affective communication. The current study compares congenitally blind and normal sighted individuals in their ability to discriminate and identify emotions from body odours. A group of 14 congenitally blind and 14 age- and sex-matched sighted control subjects participated in the study. We compared participants' abilities to detect and identify by smelling sweat from donors who had been watching excerpts from emotional movies showing amusement, fear, disgust, or sexual arousal. Our results show that congenitally blind subjects outperformed sighted controls in identifying fear from male donors. In addition, there was a strong tendency that blind individuals were also better in detecting disgust. Our findings reveal that congenitally blind individuals are better at identifying ecologically important emotions and provide new insights into the mechanisms of social and affective communication in blindness. PMID:25878902

  19. Discrimination and alcohol-related problems among college students: a prospective examination of mediating effects.

    PubMed

    Hatzenbuehler, Mark L; Corbin, William R; Fromme, Kim

    2011-06-01

    Discrimination is a risk factor for health-risk behaviors, including alcohol abuse. Far less is known about the mechanisms through which discrimination leads to alcohol-related problems, particularly during high-risk developmental periods such as young adulthood. The present study tested a mediation model using prospective data from a large, diverse sample of 1539 college students. This model hypothesized that discrimination would be associated with established cognitive (positive alcohol expectancies) and affective (negative affect and coping motives) risk factors for alcohol-related problems, which would account for the prospective association between discrimination and alcohol problems. Structural equation modeling indicated that discrimination was associated cross-sectionally with negative affect and more coping motives for drinking, but not with greater alcohol expectancies. Coping motives mediated the prospective relationship between discrimination and alcohol-related problems. Additionally, results indicated significant indirect effects from discrimination to alcohol-related problems through negative affect and coping motives. These associations were evident for multiple groups confronting status-based discrimination, including women, racial/ethnic minorities, and lesbian/gay/bisexual individuals. This study identified potential affective mechanisms linking discrimination to alcohol-related problems. Results suggest several avenues for prevention and intervention efforts with individuals from socially disadvantaged groups. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  20. Numerical assessment affects aggression and competitive ability: a team-fighting strategy for the ant Formica xerophila.

    PubMed

    Tanner, Colby J

    2006-11-07

    The relationship between numerical advantage and competitive ability is a fundamental component in contests between groups of social animals. An individual's ability to correctly assess the numerical state of its group is of vital importance. In addition to numerical dominance, the group's fighting ability also plays an important role in competitive interactions. By staging experimental fights between two Formica ant species, I show that Formica xerophila are able to assess their own group's strength prior to any competitive encounter. Ants that perceive themselves as part of a large group act more aggressively toward a competitor than ants that perceive themselves as isolated individuals. This increase in aggression improves F. xerophila's competitive ability. Furthermore, the number of individuals in a contest was found to affect competitive ability. In contests with equal number of competitors, groups of F. xerophila were more successful than individual F. xerophila. Contrary to previous predictions using Lanchester's laws of fighting, F. xerophila's ability to kill competitors increased nonlinearly with group size. This nonlinearity was due to the collective fighting strategy of an F. xerophila group isolating and engaging a single Formica integroides competitors.

  1. Numerical assessment affects aggression and competitive ability: a team-fighting strategy for the ant Formica xerophila

    PubMed Central

    Tanner, Colby J

    2006-01-01

    The relationship between numerical advantage and competitive ability is a fundamental component in contests between groups of social animals. An individual's ability to correctly assess the numerical state of its group is of vital importance. In addition to numerical dominance, the group's fighting ability also plays an important role in competitive interactions. By staging experimental fights between two Formica ant species, I show that Formica xerophila are able to assess their own group's strength prior to any competitive encounter. Ants that perceive themselves as part of a large group act more aggressively toward a competitor than ants that perceive themselves as isolated individuals. This increase in aggression improves F. xerophila's competitive ability. Furthermore, the number of individuals in a contest was found to affect competitive ability. In contests with equal number of competitors, groups of F. xerophila were more successful than individual F. xerophila. Contrary to previous predictions using Lanchester's laws of fighting, F. xerophila's ability to kill competitors increased nonlinearly with group size. This nonlinearity was due to the collective fighting strategy of an F. xerophila group isolating and engaging a single Formica integroides competitors. PMID:17015327

  2. Over-the-Counter Relief From Pains and Pleasures Alike: Acetaminophen Blunts Evaluation Sensitivity to Both Negative and Positive Stimuli.

    PubMed

    Durso, Geoffrey R O; Luttrell, Andrew; Way, Baldwin M

    2015-06-01

    Acetaminophen, an effective and popular over-the-counter pain reliever (e.g., the active ingredient in Tylenol), has recently been shown to blunt individuals' reactivity to a range of negative stimuli in addition to physical pain. Because accumulating research has shown that individuals' reactivity to both negative and positive stimuli can be influenced by a single factor (an idea known as differential susceptibility), we conducted two experiments testing whether acetaminophen blunted individuals' evaluations of and emotional reactions to both negative and positive images from the International Affective Picture System. Participants who took acetaminophen evaluated unpleasant stimuli less negatively and pleasant stimuli less positively, compared with participants who took a placebo. Participants in the acetaminophen condition also rated both negative and positive stimuli as less emotionally arousing than did participants in the placebo condition (Studies 1 and 2), whereas nonevaluative ratings (extent of color saturation in each image; Study 2) were not affected by drug condition. These findings suggest that acetaminophen has a general blunting effect on individuals' evaluative and emotional processing, irrespective of negative or positive valence. © The Author(s) 2015.

  3. Primary Emotional Systems and Personality: An Evolutionary Perspective

    PubMed Central

    Montag, Christian; Panksepp, Jaak

    2017-01-01

    The present article highlights important concepts of personality including stability issues from the perspective of situational demands and stability over the life-course. Following this more introductory section, we argue why individual differences in primary emotional systems may represent the phylogenetically oldest parts of human personality. Our argumentation leads to the need to increasingly consider individual differences in the raw affects/emotions of people to understand human personality in a bottom–up fashion, which can be coordinated with top–down perspectives. In support of this idea, we also review existing evidence linking individual differences in primal emotions as assessed with the Affective Neuroscience Personality Scales and the widely accepted Big Five Model of Personality. In this context, we provide additional evidence on the link between primal emotions and personality in German and Chinese sample populations. In short, this article addresses evolutionary perspectives in the evaluation of human personality, highlighting some of the ancestral emotional urges that probably still control variations in the construction of human personality structures. Moreover, we address how individual differences in primary emotional systems can illuminate linkages to major human psychopathologies and the potential advantages and disadvantages of carrying a certain personality trait within certain cultural/environmental niches. PMID:28443039

  4. Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

    PubMed

    Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M

    2017-10-01

    Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients. This mutation has previously been identified in four individuals of Italian and Caucasian descent. The older sibling with concomitant disease has a more severe phenotype than what is typically described in patients with either SUCLA2-related mitochondrial depletion syndrome or Down syndrome alone. The younger sibling, who has a normal female chromosome complement, is significantly less affected compared to her brother. While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. © 2017 Wiley Periodicals, Inc.

  5. Genetics of OCD

    PubMed Central

    Nestadt, Gerald; Grados, Marco; Samuels, J F

    2009-01-01

    Synopsis OCD is a common debilitating condition affecting individuals from childhood through adult life. There is good evidence of genetic contribution to its etiology, but environmental risk factors also are likely to be involved. The condition probably has a complex pattern of inheritance. Molecular studies have identified several potentially relevant genes, but much additional research is needed to establish definitive causes of the condition. PMID:20159344

  6. The Political Economy of the Ebola Virus Disease (EVD); Taking Individual and Community Ownership in the Prevention and Control of EVD.

    PubMed

    Obilade, Titilola T

    2015-01-28

    The outbreak of an emerging infectious disease of zoonotic origin has exposed the weaknesses in the health systems of the nations affected. The purpose of this paper was to explore the political economy of the existing outcome of the management strategies. In addition, it proposed a new strategy in the management of the current Ebola virus disease (EVD) outbreak. This paper admits that the current management strategy which is a top to bottom approach has not worked in reducing the spread of the disease. Instead of waiting for the disease before treatment is commenced, this paper suggests aggressively preventing infection from the EVD. It presents a bottom to top approach where there is individual ownership and community ownership in the prevention and control of the EVD outbreak. In addition, the paper presents the socio-economic situation of the three most affected countries including the ecology and stigmatization of EVD. It highlights the need for cross border surveillance across the West African nations to prevent importation of the disease as occurred in Nigeria and Senegal. It points out the need for aggressive international cooperation, an aggressive prevention and a sustainable control strategy.

  7. The Political Economy of the Ebola Virus Disease (EVD); Taking Individual and Community Ownership in the Prevention and Control of EVD

    PubMed Central

    Obilade, Titilola T.

    2015-01-01

    The outbreak of an emerging infectious disease of zoonotic origin has exposed the weaknesses in the health systems of the nations affected. The purpose of this paper was to explore the political economy of the existing outcome of the management strategies. In addition, it proposed a new strategy in the management of the current Ebola virus disease (EVD) outbreak. This paper admits that the current management strategy which is a top to bottom approach has not worked in reducing the spread of the disease. Instead of waiting for the disease before treatment is commenced, this paper suggests aggressively preventing infection from the EVD. It presents a bottom to top approach where there is individual ownership and community ownership in the prevention and control of the EVD outbreak. In addition, the paper presents the socio-economic situation of the three most affected countries including the ecology and stigmatization of EVD. It highlights the need for cross border surveillance across the West African nations to prevent importation of the disease as occurred in Nigeria and Senegal. It points out the need for aggressive international cooperation, an aggressive prevention and a sustainable control strategy. PMID:27417746

  8. Emotion malleability beliefs, emotion regulation, and psychopathology: Integrating affective and clinical science.

    PubMed

    Kneeland, Elizabeth T; Dovidio, John F; Joormann, Jutta; Clark, Margaret S

    2016-04-01

    Beliefs that individuals hold about whether emotions are malleable or fixed, also referred to as emotion malleability beliefs, may play a crucial role in individuals' emotional experiences and their engagement in changing their emotions. The current review integrates affective science and clinical science perspectives to provide a comprehensive review of how emotion malleability beliefs relate to emotionality, emotion regulation, and specific clinical disorders and treatment. Specifically, we discuss how holding more malleable views of emotion could be associated with more active emotion regulation efforts, greater motivation to engage in active regulatory efforts, more effort expended regulating emotions, and lower levels of pathological distress. In addition, we explain how extending emotion malleability beliefs into the clinical domain can complement and extend current conceptualizations of major depressive disorder, social anxiety disorder, and generalized anxiety disorder. This may prove important given the increasingly central role emotion dysregulation has been given in conceptualization and intervention for these psychiatric conditions. Additionally, discussion focuses on how emotion beliefs could be more explicitly addressed in existing cognitive therapies. Promising future directions for research are identified throughout the review. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Unilateral Anterior Ischemic Optic Neuropathy: Chromatic Pupillometry in Affected, Fellow Non-Affected and Healthy Control Eyes

    PubMed Central

    Herbst, Kristina; Sander, Birgit; Lund-Andersen, Henrik; Wegener, Marianne; Hannibal, Jens; Milea, Dan

    2013-01-01

    The intrinsically photosensitive retinal ganglion cells (ipRGCs) express the photopigment melanopsin, which is sensitive to blue light. Previous chromatic pupillometry studies have shown that the post-illumination response is considered an indicator of the melanopsin activation. The aim of this study was to investigate the ipRGC mediated pupil response in patients with a unilateral non-arteritic anterior ischemic optic neuropathy (NAION). Consensual pupil responses during and after exposure to continuous 20 s blue (470 nm) or red (660 nm) light of high intensity (300 cd/m2) were recorded in each eye for 10 patients. Comparisons were performed both intra-individually (affected versus non-affected eyes) and inter-individually (compared with healthy controls). The pupil response was calculated both during the illumination and during the post-illumination phase. The pupil responses to blue and red colors were significantly reduced in the NAION-affected eyes, compared with the fellow non-affected eyes. When comparing the affected eyes with the healthy control eyes, the post-illumination responses were not significantly different. In addition, the post-illumination pupil responses after blue light exposure were increased in the fellow non-affected patients’ eyes, compared with the healthy controls. However, significance was only reached for the late post-illumination response. In conclusion, chromatic pupillometry disclosed reduced post-illumination pupil responses in the NAION-affected eyes, compared with the non-affected fellow eyes, suggesting dysfunction of the ipRGCs. Compared with the responses of the healthy controls, the blue light post-illumination pupil responses were similar in the affected eyes and increased in the fellow non-affected eyes. This suggests a possible adaptive phenomenon, involving the ipRGCs of both eyes after unilateral NAION. PMID:23717301

  10. Anxiety sensitivity and affect regulatory strategies: individual and interactive risk factors for anxiety-related symptoms.

    PubMed

    Kashdan, Todd B; Zvolensky, Michael J; McLeish, Alison C

    2008-01-01

    Studies have shown that anxiety sensitivity (AS) is a risk factor in the development of pathological anxiety. Recent theoretical models emphasize the additional importance of how people handle their anxious experiences. The present study examined whether high AS and being fixated on the control and regulation of unwanted anxious feelings or being unable to properly modulate affect as needed lead to particularly problematic outcomes. We examined the interactive influence of AS and affect regulatory strategies on the frequency and intensity of anxiety symptoms. Questionnaires were completed by 248 young adults in the community. Results showed a general pattern with anxiety symptoms being the most severe when high AS was paired with affect regulatory difficulties. Of participants high in AS, anxious arousal and worry were heightened in the presence of less acceptance of emotional distress; anxious arousal, worry, and agoraphobic cognitions were heightened when fewer resources were available to properly modulate affect; and agoraphobic cognitions were heightened in the presence of high emotion expressiveness. As evidence of construct specificity, an alternative model with anhedonic depressive symptoms as a main effect and interaction effect (with regulatory strategies) failed to predict anxiety symptoms. However, anxiety sensitivity and less acceptance of emotional distress were associated with greater anhedonia. Results are discussed in the context of how and when affect regulatory behavior shifts individuals from normative anxiety to pathology.

  11. Meet OLAF, a Good Friend of the IAPS! The Open Library of Affective Foods: A Tool to Investigate the Emotional Impact of Food in Adolescents

    PubMed Central

    Miccoli, Laura; Delgado, Rafael; Rodríguez-Ruiz, Sonia; Guerra, Pedro; García-Mármol, Eduardo; Fernández-Santaella, M. Carmen

    2014-01-01

    In the last decades, food pictures have been repeatedly employed to investigate the emotional impact of food on healthy participants as well as individuals who suffer from eating disorders and obesity. However, despite their widespread use, food pictures are typically selected according to each researcher's personal criteria, which make it difficult to reliably select food images and to compare results across different studies and laboratories. Therefore, to study affective reactions to food, it becomes pivotal to identify the emotional impact of specific food images based on wider samples of individuals. In the present paper we introduce the Open Library of Affective Foods (OLAF), which is a set of original food pictures created to reliably select food pictures based on the emotions they prompt, as indicated by affective ratings of valence, arousal, and dominance and by an additional food craving scale. OLAF images were designed to allow simultaneous use with affective images from the International Affective Picture System (IAPS), which is a well-known instrument to investigate emotional reactions in the laboratory. The ultimate goal of the OLAF is to contribute to understanding how food is emotionally processed in healthy individuals and in patients who suffer from eating and weight-related disorders. The present normative data, which was based on a large sample of an adolescent population, indicate that when viewing affective non-food IAPS images, valence, arousal, and dominance ratings were in line with expected patterns based on previous emotion research. Moreover, when viewing food pictures, affective and food craving ratings were consistent with research on food cue processing. As a whole, the data supported the methodological and theoretical reliability of the OLAF ratings, therefore providing researchers with a standardized tool to reliably investigate the emotional and motivational significance of food. The OLAF database is publicly available at zenodo.org. PMID:25490404

  12. Meet OLAF, a good friend of the IAPS! The Open Library of Affective Foods: a tool to investigate the emotional impact of food in adolescents.

    PubMed

    Miccoli, Laura; Delgado, Rafael; Rodríguez-Ruiz, Sonia; Guerra, Pedro; García-Mármol, Eduardo; Fernández-Santaella, M Carmen

    2014-01-01

    In the last decades, food pictures have been repeatedly employed to investigate the emotional impact of food on healthy participants as well as individuals who suffer from eating disorders and obesity. However, despite their widespread use, food pictures are typically selected according to each researcher's personal criteria, which make it difficult to reliably select food images and to compare results across different studies and laboratories. Therefore, to study affective reactions to food, it becomes pivotal to identify the emotional impact of specific food images based on wider samples of individuals. In the present paper we introduce the Open Library of Affective Foods (OLAF), which is a set of original food pictures created to reliably select food pictures based on the emotions they prompt, as indicated by affective ratings of valence, arousal, and dominance and by an additional food craving scale. OLAF images were designed to allow simultaneous use with affective images from the International Affective Picture System (IAPS), which is a well-known instrument to investigate emotional reactions in the laboratory. The ultimate goal of the OLAF is to contribute to understanding how food is emotionally processed in healthy individuals and in patients who suffer from eating and weight-related disorders. The present normative data, which was based on a large sample of an adolescent population, indicate that when viewing affective non-food IAPS images, valence, arousal, and dominance ratings were in line with expected patterns based on previous emotion research. Moreover, when viewing food pictures, affective and food craving ratings were consistent with research on food cue processing. As a whole, the data supported the methodological and theoretical reliability of the OLAF ratings, therefore providing researchers with a standardized tool to reliably investigate the emotional and motivational significance of food. The OLAF database is publicly available at zenodo.org.

  13. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

    PubMed

    Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M; Büttner, Reinhard; Möslein, Gabriela; Betz, Regina C; Brieger, Angela; Lifton, Richard P; Aretz, Stefan

    2016-08-04

    In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes with high-penetrance causative mutations, we performed exome sequencing of leukocyte DNA from 102 unrelated individuals with unexplained adenomatous polyposis. We identified two unrelated individuals with differing compound-heterozygous loss-of-function (LoF) germline mutations in the mismatch-repair gene MSH3. The impact of the MSH3 mutations (c.1148delA, c.2319-1G>A, c.2760delC, and c.3001-2A>C) was indicated at the RNA and protein levels. Analysis of the diseased individuals' tumor tissue demonstrated high microsatellite instability of di- and tetranucleotides (EMAST), and immunohistochemical staining illustrated a complete loss of nuclear MSH3 in normal and tumor tissue, confirming the LoF effect and causal relevance of the mutations. The pedigrees, genotypes, and frequency of MSH3 mutations in the general population are consistent with an autosomal-recessive mode of inheritance. Both index persons have an affected sibling carrying the same mutations. The tumor spectrum in these four persons comprised colorectal and duodenal adenomas, colorectal cancer, gastric cancer, and an early-onset astrocytoma. Additionally, we detected one unrelated individual with biallelic PMS2 germline mutations, representing constitutional mismatch-repair deficiency. Potentially causative variants in 14 more candidate genes identified in 26 other individuals require further workup. In the present study, we identified biallelic germline MSH3 mutations in individuals with a suspected hereditary tumor syndrome. Our data suggest that MSH3 mutations represent an additional recessive subtype of colorectal adenomatous polyposis. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  14. Daily Affective Experiences Predict Objective Sleep Outcomes among Adolescents

    PubMed Central

    Tavernier, Royette; Choo, Sungsub B; Grant, Kathryn; Adam, Emma K

    2015-01-01

    Summary Adolescence is a sensitive period for changes in both sleep and affect. Although past research has assessed the association between affect and sleep among adolescents, few studies have examined both trait (typical) and day-to-day changes in affect, and fewer still have specifically examined negative social evaluative emotions (NSEE; e.g., embarrassment) in relation to sleep. We examined both between- and within-person variations in daily affect in relation to four objectively-measured sleep outcomes (sleep hours, sleep latency, sleep efficiency, and length of wake bouts) among adolescents. Participants (N = 77 high school students, 42.9% female; M = 14.37 years) wore an actiwatch and completed daily diaries for 3 days. Results of hierarchical linear models (controlling for age, gender, race, ethnicity, parental employment status, income, puberty, and caffeine) indicated that NSEE and high arousal affective experiences generally predicted poor sleep outcomes, whereas low arousal affective experiences were associated with good sleep outcomes. Specifically, at the person level, adolescents reporting higher NSEE had shorter average sleep hours, and those experiencing higher anxiety-nervousness had longer wake bouts. In addition, individuals experiencing more dysphoria (sad, depressed, lonely) had longer average sleep hours and shorter wake bouts, while those experiencing more calmness had shorter sleep latencies. At the within person level, individuals had longer sleep latencies following days that they had experienced high arousal positive affect (e.g., excitement) and had longer wake bouts following days they had experienced more NSEE. Results highlight the detrimental effects of NSEE and high arousal affective states for adolescent sleep. PMID:26365539

  15. A reappraisal of the uncanny valley: categorical perception or frequency-based sensitization?

    PubMed Central

    Burleigh, Tyler J.; Schoenherr, Jordan R.

    2015-01-01

    The uncanny valley (UCV) hypothesis describes a non-linear relationship between perceived human-likeness and affective response. The “uncanny valley” refers to an intermediate level of human-likeness that is associated with strong negative affect. Recent studies have suggested that the uncanny valley might result from the categorical perception of human-like stimuli during identification. When presented with stimuli sharing human-like traits, participants attempt to segment the continuum in “human” and “non-human” categories. Due to the ambiguity of stimuli located at a category boundary, categorization difficulty gives rise to a strong, negative affective response. Importantly, researchers who have studied the UCV in terms of categorical perception have focused on categorization responses rather than affective ratings. In the present study, we examined whether the negative affect associated with the UCV might be explained in terms of an individual's degree of exposure to stimuli. In two experiments, we tested a frequency-based model against a categorical perception model using a category-learning paradigm. We manipulated the frequency of exemplars that were presented to participants from two categories during a training phase. We then examined categorization and affective responses functions, as well as the relationship between categorization and affective responses. Supporting previous findings, categorization responses suggested that participants acquired novel category structures that reflected a category boundary. These category structures appeared to influence affective ratings of eeriness. Crucially, participants' ratings of eeriness were additionally affected by exemplar frequency. Taken together, these findings suggest that the UCV is determined by both categorical properties as well as the frequency of individual exemplars retained in memory. PMID:25653623

  16. The Genetic and Environmental Etiologies of Individual Differences in Early Reading Growth in Australia, the United States, and Scandinavia

    PubMed Central

    Christopher, Micaela E.; Hulslander, Jacqueline; Byrne, Brian; Samuelsson, Stefan; Keenan, Janice M.; Pennington, Bruce; DeFries, John C.; Wadsworth, Sally J.; Willcutt, Erik; Olson, Richard K.

    2013-01-01

    This first cross-country twin study of individual differences in reading growth from post-kindergarten to post-2nd grade analyzed data from 487 twin pairs from the United States, 267 pairs from Australia, and 280 pairs from Scandinavia. Data from two reading measures were fit to biometric latent growth models. Individual differences for the reading measures at post-kindergarten in the U.S. and Australia were due primarily to genetic influences, and to both genetic and shared environmental influences in Scandinavia. In contrast, individual differences in growth generally had large genetic influences in all countries. These results suggest that genetic influences are largely responsible for individual differences in early reading development. In addition, the timing of the start of formal literacy instruction may affect the etiology of individual differences in early reading development, but have only limited influence on the etiology of individual differences in growth. PMID:23665180

  17. Picturing obesity: analyzing the social epidemiology of obesity conveyed through US news media images.

    PubMed

    Gollust, Sarah E; Eboh, Ijeoma; Barry, Colleen L

    2012-05-01

    News media coverage can affect how Americans view health policy issues. While previous research has investigated the text content of news media coverage of obesity, these studies have tended to ignore the photographs and other images that accompany obesity-related news coverage. Images can convey important messages about which groups in society are more or less affected by a health problem, and, in turn, shape public understanding about the social epidemiology of that condition. In this study, we analyzed the images of overweight and obese individuals in Time and Newsweek coverage over a 25-year period (1984-2009), and compared these depictions, which we characterize as representing the "news media epidemiology" of obesity, to data describing the true national prevalence of obesity within key populations of interest over this period. Data collected included descriptive features of news stories and accompanying images, and demographic characteristics of individuals portrayed in images. Over the 25-year period, we found that news magazines increasingly depicted non-whites as overweight and obese, and showed overweight and obese individuals less often performing stereotypical behaviors. Even with increasing representation of non-whites over time, news magazines still underrepresented African Americans and Latinos. In addition, the elderly were starkly underrepresented in images of the overweight and obese compared to actual prevalence rates. Research in other policy arenas has linked media depictions of the populations affected by social problems with public support for policies to combat them. Further research is needed to understand how news media depictions can affect public stigma toward overweight and obese individuals and public support for obesity prevention efforts. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. Pain vulnerability and DNA methyltransferase 3a involved in the affective dimension of chronic pain

    PubMed Central

    Wang, Wei; Li, Caiyue; Cai, Youqing; Pan, Zhizhong Z

    2017-01-01

    Chronic pain with comorbid emotional disorders is a prevalent neurological disease in patients under various pathological conditions, yet patients show considerable difference in their vulnerability to developing chronic pain. Understanding the neurobiological basis underlying this pain vulnerability is essential to develop targeted therapies of higher efficiency in pain treatment of precision medicine. However, this pain vulnerability has not been addressed in preclinical pain research in animals to date. In this study, we investigated individual variance in both sensory and affective/emotional dimensions of pain behaviors in response to chronic neuropathic pain condition in a mouse model of chronic pain. We found that mice displayed considerably diverse sensitivities in the chronic pain-induced anxiety- and depression-like behaviors of affective pain. Importantly, the mouse group that was more vulnerable to developing anxiety was also more vulnerable to developing depressive behavior under the chronic pain condition. In contrast, there was relatively much less variance in individual responses in the sensory dimension of pain sensitization. Molecular analysis revealed that those mice vulnerable to developing the emotional disorders showed a significant reduction in the protein level of DNA methyltransferase 3a in the emotion-processing central nucleus of the amygdala. In addition, social stress also revealed significant individual variance in anxiety behavior in mice. These findings suggest that individual pain vulnerability may be inherent mostly in the emotional/affective component of chronic pain and remain consistent in different aspects of negative emotion, in which adaptive changes in the function of DNA methyltransferase 3a for DNA methylation in central amygdala may play an important role. This may open a new avenue of basic research into the neurobiological mechanisms underlying pain vulnerability. PMID:28849714

  19. The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study.

    PubMed

    Al-Jameil, Noura; Hassan, Amina A; Hassanato, Rana; Isac, Sree R; Otaiby, Maram Al; Al-Shareef, Fadwa; Al-Maarik, Basmah; Ajeyan, Iman Al; Al-Bahloul, Khloud; Ghani, Samina; Al-Torbak, Dana

    2017-10-01

    Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected Saudi populations and to clarify the importance of genetic tests in the screening of people at risk for COPD.One thousand blood samples from healthy individuals and 1000 from COPD-affected Saudi individuals were genotyped for the above-mentioned alleles, using real-time polymerase chain reaction (PCR), with the exclusion of any other nationalities. Data were analyzed by determining the allele and genotype frequencies through gene counting and its confidence intervals. The allele frequencies, derived by the Hardy-Weinberg equilibrium method, were analyzed by Pearson Chi-squared tests. The confidence intervals for genotype frequencies were calculated using exploratory software for confidence intervals.Of the 1000 COPD patients included in our study, the prevalence of PI*S and PI*Z was 21.8% and 7.7%, respectively, while within the 1000 normal samples, these alleles occurred in 8.9% of patients for PI*S and 1.6% for PI*Z. The AAT deficiency genotype frequencies (PI*ZZ, PI*SS, and PI*SZ) were 6.5 per 1000 and 87 per 1000 for normal and COPD-affected Saudi individuals.Our results indicated a high prevalence of AATD alleles in the normal Saudi population and an association between AAT deficiency and pulmonary disease development. Additionally, our research confirms the importance of genetic screening to achieve early and accurate diagnosis of AATD.

  20. Individual differences in wisdom conceptions: relationships to gratitude and wisdom.

    PubMed

    König, Susanne; Glück, Judith

    2013-01-01

    Previous research has shown that most laypeople hold one of two typical conceptions of wisdom--a cognitive or an integrative conception. The current study extends previous research by including a qualitative assessment of people's views of what wisdom is and how it develops, and by relating wisdom conceptions are related to levels of wisdom and gratitude. A sample of 443 young adults rated the relevance of cognitive, reflective, and affective aspects for wisdom. Cluster analyses confirmed the two typical wisdom conceptions: a primarily cognitive view of wisdom and a view emphasizing the integration of cognition, reflection, and affect. The two groups also differed in freely-generated characteristics of wisdom and its development. Additionally, the integrative conception was more frequent in individuals with higher levels of gratitude and wisdom. In sum, laypeople's conceptions of wisdom vary along similar lines as those of wisdom psychologists.

  1. Well-Being and Safety among Inpatient Psychiatric Staff: The Impact of Conflict, Assault, and Stress Reactivity

    PubMed Central

    Kelly, Erin L.; Fenwick, Karissa; Brekke, John S.; Novaco, Raymond W.

    2015-01-01

    Psychiatric staff are faced with multiple forms of hostility, aggression, and assault at work, collectively referred to as workplace violence, which typically is activated by patients but can also come from coworkers and supervisors. Whether workplace violence adversely affects staff well-being may be related not only to its presence, but also to an individual’s stress reactivity. At a large public psychiatric hospital, an online survey was completed by 323 clinical care staff, of whom 69.5% had experienced physical assault in the previous 12 months. Staff well-being (depression, anger, and physical health) and staff safety concerns were adversely affected by conflicts with other staff members and by individual reactivity to social conflict and to assault. To improve staff well-being, in addition to safety protocols, interventions should target staff relationships, personal health maintenance practices, and individual coping skills for dealing with adverse workplace experiences. PMID:26377816

  2. Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies.

    PubMed

    Lenroot, Rhoshel K; Lee, Nancy Raitano; Giedd, Jay N

    2009-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size.

  3. Effects of Sex Chromosome Aneuploidies on Brain Development: Evidence From Neuroimaging Studies

    PubMed Central

    Lenroot, Rhoshel K.; Lee, Nancy Raitano; Giedd, Jay N.

    2010-01-01

    Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size. PMID:20014372

  4. An evidence-based update on myopia and interventions to retard its progression

    PubMed Central

    Leo, Seo-Wei; Young, Terri L.

    2011-01-01

    Summary Myopia is the most common human eye disorder. With its increasing prevalence and earlier age-of-onset in recent birth cohorts, myopia now affects almost 33% of adult individuals in the United States, and epidemic proportions of 85% to 90% adult individuals in Asian cities. Unlike children in Western populations, where the prevalence of myopia is very low (less than 5%), Asian children have prevalences as high as 29% in 7-year-olds. In addition to the direct economic and social burdens of myopia, associated ocular complications may lead to substantial vision loss. This workshop summarizes the current literature regarding myopia epidemiology, genetics, animal model studies, risk factors, and clinical treatments. Published treatment strategies to retard the progression of myopia in children, such as pharmacologic agents, progressive addition lenses, neural adaptation programs are outlined. PMID:21596297

  5. Post-stroke hemiparesis: Does chronicity, etiology, and lesion side are associated with gait pattern?

    PubMed

    Gama, Gabriela Lopes; Larissa, Coutinho de Lucena; Brasileiro, Ana Carolina de Azevedo Lima; Silva, Emília Márcia Gomes de Souza; Galvão, Élida Rayanne Viana Pinheiro; Maciel, Álvaro Cavalcanti; Lindquist, Ana Raquel Rodrigues

    2017-07-01

    Studies that evaluate gait rehabilitation programs for individuals with stroke often consider time since stroke of more than six months. In addition, most of these studies do not use lesion etiology or affected cerebral hemisphere as study factors. However, it is unknown whether these factors are associated with post-stroke motor performance after the spontaneous recovery period. To investigate whether time since stroke onset, etiology, and lesion side is associated with spatiotemporal and angular gait parameters of individuals with chronic stroke. Fifty individuals with chronic hemiparesis (20 women) were evaluated. The sample was stratified according to time since stroke (between 6 and 12 months, between 13 and 36 months, and over 36 months), affected cerebral hemisphere (left or right) and lesion etiology (ischemic and hemorrhagic). The participants were evaluated during overground walking at self-selected gait speed, and spatiotemporal and angular gait parameters were calculated. Results Differences between gait speed, stride length, hip flexion, and knee flexion were observed in subgroups stratified based on lesion etiology. Survivors of a hemorrhagic stroke exhibited more severe gait impairment. Subgroups stratified based on time since stroke only showed intergroup differences for stride length, and subgroups stratified based on affected cerebral hemisphere displayed between-group differences for swing time symmetry ratio. In order to recruit a more homogeneous sample, more accurate results were obtained and an appropriate rehabilitation program was offered, researchers and clinicians should consider that gait pattern might be associated with time since stroke, affected cerebral hemisphere and lesion etiology.

  6. Estimating the degree of identity by descent in consanguineous couples.

    PubMed

    Carr, Ian M; Markham, Sir Alexander F; Pena, Sérgio D J

    2011-12-01

    In some clinical and research settings, it is often necessary to identify the true level of "identity by descent" (IBD) between two individuals. However, as the individuals become more distantly related, it is increasingly difficult to accurately calculate this value. Consequently, we have developed a computer program that uses genome-wide SNP genotype data from related individuals to estimate the size and extent of IBD in their genomes. In addition, the software can compare a couple's IBD regions with either the autozygous regions of a relative affected by an autosomal recessive disease of unknown cause, or the IBD regions in the parents of the affected relative. It is then possible to calculate the probability of one of the couple's children suffering from the same disease. The software works by finding SNPs that exclude any possible IBD and then identifies regions that lack these SNPs, while exceeding a minimum size and number of SNPs. The accuracy of the algorithm was established by estimating the pairwise IBD between different members of a large pedigree with varying known coefficients of genetic relationship (CGR). © 2011 Wiley Periodicals, Inc.

  7. Factors Influencing the Job Satisfaction of Health System Employees in Tabriz, Iran

    PubMed Central

    Bagheri, Shokoufe; Kousha, Ahmad; Janati, Ali; Asghari-Jafarabadi, Mohammad

    2012-01-01

    Background: Employees can be counseled on how they feel about their job. If any particular dimension of their job is causing them dissatisfaction, they can be assisted to appropriately change it. In this study, we investigated the factors affecting job satisfaction from the perspective of employees working in the health system and thereby a quantitative measure of job satisfaction. Methods: Using eight focus group discussions (n=70), factors affecting job satisfaction of the employees were discussed. The factors identified from literature review were categorized in four groups: structural and managerial, social, work in it-self, environmental and welfare factors. Results: The findings confirmed the significance of structural and managerial, social, work in it-self, environmental and welfare factors in the level of job satisfaction. In addition, a new factor related to individual characteristics such as employee personal characteristics and development was identified. Conclusion: In order to improve the quality and productivity of work, besides, structural and managerial, social, work in it-self, environmental and welfare factors, policy makers should be taken into account individual characteristics of the employee as a factor affecting job satisfaction. PMID:24688933

  8. Factors influencing the job satisfaction of health system employees in tabriz, iran.

    PubMed

    Bagheri, Shokoufe; Kousha, Ahmad; Janati, Ali; Asghari-Jafarabadi, Mohammad

    2012-01-01

    Employees can be counseled on how they feel about their job. If any particular dimension of their job is causing them dissatisfaction, they can be assisted to appropriately change it. In this study, we investigated the factors affecting job satisfaction from the perspective of employees working in the health system and thereby a quantitative measure of job satisfaction. Using eight focus group discussions (n=70), factors affecting job satisfaction of the employees were discussed. The factors identified from literature review were categorized in four groups: structural and managerial, social, work in it-self, environmental and welfare factors. The findings confirmed the significance of structural and managerial, social, work in it-self, environmental and welfare factors in the level of job satisfaction. In addition, a new factor related to individual characteristics such as employee personal characteristics and development was identified. In order to improve the quality and productivity of work, besides, structural and managerial, social, work in it-self, environmental and welfare factors, policy makers should be taken into account individual characteristics of the employee as a factor affecting job satisfaction.

  9. Why employees with higher challenging appraisals style are more affectively engaged at work? The role of challenging stressors: a moderated mediation model.

    PubMed

    Lin, Shin-Huei; Wu, Chia-Huei; Chen, Mei-Yen; Chen, Lung Hung

    2014-10-01

    Challenging stressors have been positively linked to various work outcomes. However, the role of individual differences in stress appraisal in shaping the function of challenging stressors and work outcomes has been rarely discussed. Drawing on the individual differences perspective, the authors propose that employees higher in challenge appraisal are more likely to have challenging stressors and are more responsive to such stressors to have a higher positive affect at work. Results obtained from 117 employees supported the hypotheses. The results indicated that challenge appraisal is positively related to challenging stressors. In addition, challenging stressors has a positive association with positive affect at work when challenge appraisal is high but has a null association when challenge appraisal is low. The findings suggest that challenging stressors does not necessarily bring positive work outcomes as suggested in past studies and highlight the importance of considering dispositional tendency in stress appraisal when looking into the function of challenging stressors and work outcomes. © 2014 International Union of Psychological Science.

  10. Effect of acute tryptophan depletion on emotions in individuals with personal and family history of depression following a mood induction.

    PubMed

    Altman, Sarah E; Shankman, Stewart A; Spring, Bonnie

    2010-08-01

    Acute tryptophan depletion (ATD) has shown depletion-specific increases in depressed mood and overall depressive symptoms, especially in those with a family history and in remitted patients. However, its effect on a broad range of emotions beyond depressed mood has been inconsistent, and studies have rarely employed a negative mood induction. The present double-blind study administered tryptophan-depleted and taste-matched placebo challenge drinks to individuals with a past diagnosis and family history of depression (i.e. depression-vulnerable subjects) and controls in order to investigate the effect of ATD on positive affect, anxiety, anger and depressed mood following a negative mood induction. Certain aspects of positive affect decreased due to ATD in the depression vulnerables but not in the controls. No differential effects were found on depressed mood and anxiety. A stress-induced blunted hedonic capacity may increase vulnerability to ATD and may be a core emotional abnormality in depression. Additionally, serotonin may have a stronger influence on positive affect than on other depression-related emotions during periods of stress. (c) 2010 S. Karger AG, Basel.

  11. Exploring How Nature and Nurture Affect the Development of Reading: An Analysis of the Florida Twin Project on Reading

    ERIC Educational Resources Information Center

    Hart, Sara A.; Logan, Jessica A. R.; Soden-Hensler, Brooke; Kershaw, Sarah; Taylor, Jeanette; Schatschneider, Christopher

    2013-01-01

    Research on the development of reading skills through the primary school years has pointed to the importance of individual differences in initial ability as well as the growth of those skills. Additionally, it has been theorized that reading skills develop incrementally. The present study examined the genetic and environmental influences on 2…

  12. Carotenoid coloration and health status of urban Eurasian kestrels (Falco tinnunculus).

    PubMed

    Sumasgutner, Petra; Adrion, Marius; Gamauf, Anita

    2018-01-01

    As the world experiences rapid urban expansion, natural landscapes are being transformed into cities at an alarming rate. Consequently, urbanization is identified as one of the biggest environmental challenges of our time, yet we lack a clear understanding of how urbanization affects free-living organisms. Urbanization leads to habitat fragmentation and increased impervious surfaces affecting for example availability and quality of food. Urbanization is also associated with increased pollution levels that can affect organisms directly, via ecophysiological constraints and indirectly by disrupting trophic interactions in multi-species networks. Birds are highly mobile, while an individual is not necessarily exposed to urban stressors around the clock, but nestlings of altricial birds are. Such a city-dwelling species with a long nestling phase is the Eurasian kestrel (Falco tinnunculus) in Vienna, Austria, which forage on a diverse diet differing in composition from rural habitats. Furthermore, prey items vary in nutritional value and contents of micronutrients like carotenoids, which might impact the nestlings' health. Carotenoids are pigments that are incorporated into integument tissues but also have antioxidant and immunostimulatory capacity, resulting in a trade-off between these functions. In nestlings these pigments function in parent-offspring communication or sibling competition by advertising an individual's physical or physiological condition. Anthropogenic disturbance and pollutants could have disruptive effects on the coloration of these traits. In this study, we measured carotenoid based coloration and other indicators of individual health (body condition and susceptibility to the ectoparasite Carnus hemapterus) of 154 nestling kestrels (n = 91 nests) along an urban gradient from 2010 to 2015. We found skin yellowness of nestlings from nest-sites in the city-center to be least pronounced. This result might indicate that inner-city nestlings are strongly affected by urban stressors and depleted their stores of dietary carotenoids for health-related functions rather than coloration. In addition, skin yellowness intensified with age and was stronger pronounced in earlier nests. Since the immune system of nestlings is still developing, younger chicks might need more antioxidants to combat environmental stress. Additionally, parasite infection intensity was highest in nestlings with less intense skin yellowness (paler or less yellow pigmented integuments) and in earlier nests of the season. In combination with results from previous studies, our findings provide further support for the low quality of the inner-city habitat, both in terms of productivity and individual health.

  13. Accounting for tagging-to-harvest mortality in a Brownie tag-recovery model by incorporating radio-telemetry data.

    PubMed

    Buderman, Frances E; Diefenbach, Duane R; Casalena, Mary Jo; Rosenberry, Christopher S; Wallingford, Bret D

    2014-04-01

    The Brownie tag-recovery model is useful for estimating harvest rates but assumes all tagged individuals survive to the first hunting season; otherwise, mortality between time of tagging and the hunting season will cause the Brownie estimator to be negatively biased. Alternatively, fitting animals with radio transmitters can be used to accurately estimate harvest rate but may be more costly. We developed a joint model to estimate harvest and annual survival rates that combines known-fate data from animals fitted with transmitters to estimate the probability of surviving the period from capture to the first hunting season, and data from reward-tagged animals in a Brownie tag-recovery model. We evaluated bias and precision of the joint estimator, and how to optimally allocate effort between animals fitted with radio transmitters and inexpensive ear tags or leg bands. Tagging-to-harvest survival rates from >20 individuals with radio transmitters combined with 50-100 reward tags resulted in an unbiased and precise estimator of harvest rates. In addition, the joint model can test whether transmitters affect an individual's probability of being harvested. We illustrate application of the model using data from wild turkey, Meleagris gallapavo, to estimate harvest rates, and data from white-tailed deer, Odocoileus virginianus, to evaluate whether the presence of a visible radio transmitter is related to the probability of a deer being harvested. The joint known-fate tag-recovery model eliminates the requirement to capture and mark animals immediately prior to the hunting season to obtain accurate and precise estimates of harvest rate. In addition, the joint model can assess whether marking animals with radio transmitters affects the individual's probability of being harvested, caused by hunter selectivity or changes in a marked animal's behavior.

  14. Brain network connectivity in individuals with schizophrenia and their siblings.

    PubMed

    Repovs, Grega; Csernansky, John G; Barch, Deanna M

    2011-05-15

    Research on brain activity in schizophrenia has shown that changes in the function of any single region cannot explain the range of cognitive and affective impairments in this illness. Rather, neural circuits that support sensory, cognitive, and emotional processes are now being investigated as substrates for cognitive and affective impairments in schizophrenia, a shift in focus consistent with long-standing hypotheses about schizophrenia as a disconnection syndrome. Our goal was to further examine alterations in functional connectivity within and between the default mode network and three cognitive control networks (frontal-parietal, cingulo-opercular, and cerebellar) as a basis for such impairments. Resting state functional magnetic resonance imaging was collected from 40 individuals with DSM-IV-TR schizophrenia, 31 siblings of individuals with schizophrenia, 15 healthy control subjects, and 18 siblings of healthy control subjects while they rested quietly with their eyes closed. Connectivity metrics were compared between patients and control subjects for both within- and between-network connections and were used to predict clinical symptoms and cognitive function. Individuals with schizophrenia showed reduced distal and somewhat enhanced local connectivity between the cognitive control networks compared with control subjects. Additionally, greater connectivity between the frontal-parietal and cerebellar regions was robustly predictive of better cognitive performance across groups and predictive of fewer disorganization symptoms among patients. These results are consistent with the hypothesis that impairments of executive function and cognitive control result from disruption in the coordination of activity across brain networks and additionally suggest that these might reflect impairments in normal pattern of brain connectivity development. Copyright © 2011 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  15. Accounting for tagging-to-harvest mortality in a Brownie tag-recovery model by incorporating radio-telemetry data

    USGS Publications Warehouse

    Buderman, Frances E.; Diefenbach, Duane R.; Casalena, Mary Jo; Rosenberry, Christopher S.; Wallingford, Bret D.

    2014-01-01

    The Brownie tag-recovery model is useful for estimating harvest rates but assumes all tagged individuals survive to the first hunting season; otherwise, mortality between time of tagging and the hunting season will cause the Brownie estimator to be negatively biased. Alternatively, fitting animals with radio transmitters can be used to accurately estimate harvest rate but may be more costly. We developed a joint model to estimate harvest and annual survival rates that combines known-fate data from animals fitted with transmitters to estimate the probability of surviving the period from capture to the first hunting season, and data from reward-tagged animals in a Brownie tag-recovery model. We evaluated bias and precision of the joint estimator, and how to optimally allocate effort between animals fitted with radio transmitters and inexpensive ear tags or leg bands. Tagging-to-harvest survival rates from >20 individuals with radio transmitters combined with 50–100 reward tags resulted in an unbiased and precise estimator of harvest rates. In addition, the joint model can test whether transmitters affect an individual's probability of being harvested. We illustrate application of the model using data from wild turkey, Meleagris gallapavo,to estimate harvest rates, and data from white-tailed deer, Odocoileus virginianus, to evaluate whether the presence of a visible radio transmitter is related to the probability of a deer being harvested. The joint known-fate tag-recovery model eliminates the requirement to capture and mark animals immediately prior to the hunting season to obtain accurate and precise estimates of harvest rate. In addition, the joint model can assess whether marking animals with radio transmitters affects the individual's probability of being harvested, caused by hunter selectivity or changes in a marked animal's behavior.

  16. PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS

    PubMed Central

    Fitzgerald, Jamie; Holden, Paul; Wright, Hollis; Wilmot, Beth; Hata, Abigail; Steiner, Robert D.; Basel, Don

    2016-01-01

    Background Osteogenesis imperfecta (OI) type V is a dominantly inherited skeletal dysplasia characterized by fractures and progressive deformity of long bones. In addition, patients often present with radial head dislocation, hyperplastic callus, and calcification of the forearm interosseous membrane. Recently, a specific mutation in the IFITM5 gene was found to be responsible for OI type V. This mutation, a C to T transition 14 nucleotides upstream from the endogenous start codon, creates a new start methionine that appears to be preferentially used by the translational machinery. However, the mechanism by which the lengthened protein results in a dominant type of OI is unknown. Methods and Results We report 7 ethnically diverse (African-American, Caucasian, Hispanic, and African) individuals with OI type V from 2 families and 2 sporadic cases. Exome sequencing failed to identify a causative mutation. Using Sanger sequencing, we found that all affected individuals in our cohort possess the c.−14 IFITM5 variant, further supporting the notion that OI type V is caused by a single, discrete mutation. Our patient cohort demonstrated inter-and intrafamilial phenotypic variability, including a father with classic OI type V whose daughter had a phenotype similar to OI type I. This clinical variability suggests that modifier genes influence the OI type V phenotype. We also confirm that the mutation creates an aberrant IFITM5 protein containing an additional 5 amino acids at the N-terminus. Conclusions The variable clinical signs in these cases illustrate the significant variability of the OI type V phenotype caused by the c.−14 IFITM5 mutation. The affected individuals are more ethnically diverse than previously reported. PMID:28824928

  17. High-Intensity Interval Training Elicits Higher Enjoyment than Moderate Intensity Continuous Exercise

    PubMed Central

    Thum, Jacob S.; Parsons, Gregory; Whittle, Taylor

    2017-01-01

    Exercise adherence is affected by factors including perceptions of enjoyment, time availability, and intrinsic motivation. Approximately 50% of individuals withdraw from an exercise program within the first 6 mo of initiation, citing lack of time as a main influence. Time efficient exercise such as high intensity interval training (HIIT) may provide an alternative to moderate intensity continuous exercise (MICT) to elicit substantial health benefits. This study examined differences in enjoyment, affect, and perceived exertion between MICT and HIIT. Twelve recreationally active men and women (age = 29.5 ± 10.7 yr, VO2max = 41.4 ± 4.1 mL/kg/min, BMI = 23.1 ± 2.1 kg/m2) initially performed a VO2max test on a cycle ergometer to determine appropriate workloads for subsequent exercise bouts. Each subject returned for two additional exercise trials, performing either HIIT (eight 1 min bouts of cycling at 85% maximal workload (Wmax) with 1 min of active recovery between bouts) or MICT (20 min of cycling at 45% Wmax) in randomized order. During exercise, rating of perceived exertion (RPE), affect, and blood lactate concentration (BLa) were measured. Additionally, the Physical Activity Enjoyment Scale (PACES) was completed after exercise. Results showed higher enjoyment (p = 0.013) in response to HIIT (103.8 ± 9.4) versus MICT (84.2 ± 19.1). Eleven of 12 participants (92%) preferred HIIT to MICT. However, affect was lower (p<0.05) and HR, RPE, and BLa were higher (p<0.05) in HIIT versus MICT. Although HIIT is more physically demanding than MICT, individuals report greater enjoyment due to its time efficiency and constantly changing stimulus. Trial Registration: NCT:02981667. PMID:28076352

  18. High-Intensity Interval Training Elicits Higher Enjoyment than Moderate Intensity Continuous Exercise.

    PubMed

    Thum, Jacob S; Parsons, Gregory; Whittle, Taylor; Astorino, Todd A

    2017-01-01

    Exercise adherence is affected by factors including perceptions of enjoyment, time availability, and intrinsic motivation. Approximately 50% of individuals withdraw from an exercise program within the first 6 mo of initiation, citing lack of time as a main influence. Time efficient exercise such as high intensity interval training (HIIT) may provide an alternative to moderate intensity continuous exercise (MICT) to elicit substantial health benefits. This study examined differences in enjoyment, affect, and perceived exertion between MICT and HIIT. Twelve recreationally active men and women (age = 29.5 ± 10.7 yr, VO2max = 41.4 ± 4.1 mL/kg/min, BMI = 23.1 ± 2.1 kg/m2) initially performed a VO2max test on a cycle ergometer to determine appropriate workloads for subsequent exercise bouts. Each subject returned for two additional exercise trials, performing either HIIT (eight 1 min bouts of cycling at 85% maximal workload (Wmax) with 1 min of active recovery between bouts) or MICT (20 min of cycling at 45% Wmax) in randomized order. During exercise, rating of perceived exertion (RPE), affect, and blood lactate concentration (BLa) were measured. Additionally, the Physical Activity Enjoyment Scale (PACES) was completed after exercise. Results showed higher enjoyment (p = 0.013) in response to HIIT (103.8 ± 9.4) versus MICT (84.2 ± 19.1). Eleven of 12 participants (92%) preferred HIIT to MICT. However, affect was lower (p<0.05) and HR, RPE, and BLa were higher (p<0.05) in HIIT versus MICT. Although HIIT is more physically demanding than MICT, individuals report greater enjoyment due to its time efficiency and constantly changing stimulus. NCT:02981667.

  19. The Socio-Moral Image Database (SMID): A novel stimulus set for the study of social, moral and affective processes.

    PubMed

    Crone, Damien L; Bode, Stefan; Murawski, Carsten; Laham, Simon M

    2018-01-01

    A major obstacle for the design of rigorous, reproducible studies in moral psychology is the lack of suitable stimulus sets. Here, we present the Socio-Moral Image Database (SMID), the largest standardized moral stimulus set assembled to date, containing 2,941 freely available photographic images, representing a wide range of morally (and affectively) positive, negative and neutral content. The SMID was validated with over 820,525 individual judgments from 2,716 participants, with normative ratings currently available for all images on affective valence and arousal, moral wrongness, and relevance to each of the five moral values posited by Moral Foundations Theory. We present a thorough analysis of the SMID regarding (1) inter-rater consensus, (2) rating precision, and (3) breadth and variability of moral content. Additionally, we provide recommendations for use aimed at efficient study design and reproducibility, and outline planned extensions to the database. We anticipate that the SMID will serve as a useful resource for psychological, neuroscientific and computational (e.g., natural language processing or computer vision) investigations of social, moral and affective processes. The SMID images, along with associated normative data and additional resources are available at https://osf.io/2rqad/.

  20. Ecological influences on individual differences in color preference.

    PubMed

    Schloss, Karen B; Hawthorne-Madell, Daniel; Palmer, Stephen E

    2015-11-01

    How can the large, systematic differences that exist between individuals' color preferences be explained? The ecological valence theory (Palmer & Schloss, Proceedings of the National Academy of Sciences 107:8877-8882, 2010) posits that an individual's preference for each particular color is determined largely by his or her preferences for all correspondingly colored objects. Therefore, individuals should differ in their color preferences to the extent that they have different preferences for the same color-associated objects or that they experience different objects. Supporting this prediction, we found that individuals' color preferences were predicted better by their own preferences for correspondingly colored objects than by other peoples' preferences for the same objects. Moreover, the fit between color preferences and affect toward the colored objects was reliably improved when people's own idiosyncratic color-object associations were included in addition to a standard set of color-object associations. These and related results provide evidence that individual differences in color preferences are reliably influenced by people's personal experiences with colored objects in their environment.

  1. Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

    PubMed

    Bergendal, Birgitta; Norderyd, Johanna; Zhou, Xiaolei; Klar, Joakim; Dahl, Niklas

    2016-11-24

    The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis. In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I. We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic WNT10A mutations of importance for diagnosis, counselling and follow-up.

  2. How do sock ply changes affect residual-limb fluid volume in people with transtibial amputation?

    PubMed

    Sanders, Joan E; Harrison, Daniel S; Allyn, Katheryn J; Myers, Timothy R; Ciol, Marcia A; Tsai, Elaine C

    2012-01-01

    The purpose of this research was to investigate the influence of sock addition and removal on residual-limb fluid volume in people using prosthetic limbs. We used bioimpedance analysis to measure residual-limb extracellular fluid volume on 28 transtibial amputee subjects during 30 min test sessions. Upon addition of a one-ply polyester sock, residual-limb fluid volume changes ranged from -4.0% to 0.8% (mean -0.9 +/- 1.3%) of the initial limb fluid volume. Changes for sock removal ranged from -1.2% to 2.8% (mean 0.5 +/- 0.8%). Subjects who reduced in fluid volume with both addition and removal of a sock and subjects with high positive ratios between the fluid-volume loss upon sock addition and gain upon sock removal (high add/remove [AR] ratios) tended to have arterial disease, were obese, and were smokers. Subjects with low positive AR ratios, subjects who increased in fluid volume both with sock addition and removal, and a single subject who increased in fluid volume with sock addition and decreased with sock removal tended to be nonsmokers and either individuals in good health without complications or individuals without arterial problems. Results are relevant for the anticipation of limb volume changes during prosthetic fitting and toward the design of adjustable-socket technologies.

  3. Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

    PubMed

    Bourcier, Romain; Le Scouarnec, Solena; Bonnaud, Stéphanie; Karakachoff, Matilde; Bourcereau, Emmanuelle; Heurtebise-Chrétien, Sandrine; Menguy, Céline; Dina, Christian; Simonet, Floriane; Moles, Alexis; Lenoble, Cédric; Lindenbaum, Pierre; Chatel, Stéphanie; Isidor, Bertrand; Génin, Emmanuelle; Deleuze, Jean-François; Schott, Jean-Jacques; Le Marec, Hervé; Loirand, Gervaise; Desal, Hubert; Redon, Richard

    2018-01-04

    Intracranial aneurysms (IAs) are acquired cerebrovascular abnormalities characterized by localized dilation and wall thinning in intracranial arteries, possibly leading to subarachnoid hemorrhage and severe outcome in case of rupture. Here, we identified one rare nonsense variant (c.1378A>T) in the last exon of ANGPTL6 (Angiopoietin-Like 6)-which encodes a circulating pro-angiogenic factor mainly secreted from the liver-shared by the four tested affected members of a large pedigree with multiple IA-affected case subjects. We showed a 50% reduction of ANGPTL6 serum concentration in individuals heterozygous for the c.1378A>T allele (p.Lys460Ter) compared to relatives homozygous for the normal allele, probably due to the non-secretion of the truncated protein produced by the c.1378A>T transcripts. Sequencing ANGPTL6 in a series of 94 additional index case subjects with familial IA identified three other rare coding variants in five case subjects. Overall, we detected a significant enrichment (p = 0.023) in rare coding variants within this gene among the 95 index case subjects with familial IA, compared to a reference population of 404 individuals with French ancestry. Among the 6 recruited families, 12 out of 13 (92%) individuals carrying IA also carry such variants in ANGPTL6, versus 15 out of 41 (37%) unaffected ones. We observed a higher rate of individuals with a history of high blood pressure among affected versus healthy individuals carrying ANGPTL6 variants, suggesting that ANGPTL6 could trigger cerebrovascular lesions when combined with other risk factors such as hypertension. Altogether, our results indicate that rare coding variants in ANGPTL6 are causally related to familial forms of IA. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  4. Additive genetic variation and evolvability of a multivariate trait can be increased by epistatic gene action.

    PubMed

    Griswold, Cortland K

    2015-12-21

    Epistatic gene action occurs when mutations or alleles interact to produce a phenotype. Theoretically and empirically it is of interest to know whether gene interactions can facilitate the evolution of diversity. In this paper, we explore how epistatic gene action affects the additive genetic component or heritable component of multivariate trait variation, as well as how epistatic gene action affects the evolvability of multivariate traits. The analysis involves a sexually reproducing and recombining population. Our results indicate that under stabilizing selection conditions a population with a mixed additive and epistatic genetic architecture can have greater multivariate additive genetic variation and evolvability than a population with a purely additive genetic architecture. That greater multivariate additive genetic variation can occur with epistasis is in contrast to previous theory that indicated univariate additive genetic variation is decreased with epistasis under stabilizing selection conditions. In a multivariate setting, epistasis leads to less relative covariance among individuals in their genotypic, as well as their breeding values, which facilitates the maintenance of additive genetic variation and increases a population׳s evolvability. Our analysis involves linking the combinatorial nature of epistatic genetic effects to the ancestral graph structure of a population to provide insight into the consequences of epistasis on multivariate trait variation and evolution. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. A longitudinal analysis of drinking motives moderating the negative affect-drinking association among college students.

    PubMed

    Armeli, Stephen; Conner, Tamlin S; Cullum, Jerry; Tennen, Howard

    2010-03-01

    We examined among college students (N = 530; 276 women) the moderating effects of avoidance (coping) and appetitive (social-enhancement) drinking motives on the within-person associations between anxious and depressive affect and drinking frequency and quantity. Once per year for up to 4 years participants completed standard measures of drinking motives and retrospective reports of affect and drinking in the previous month. In addition, each year they completed a 30-day daily diary of affect and drinking. Results from models examining both the retrospective and aggregate daily data indicated that individuals with high compared with low social-enhancement motives showed stronger positive associations among changes in monthly negative affect and drinking frequency. Weak evidence was found for the predicted moderating effects of coping motives, although some results indicated that its effects were contingent on levels of social-enhancement motives. Our findings suggest that appetitive drinking motives might play an integral role in stress- and negative-affect related drinking among college students.

  6. Exploring the differential impact of individual and organizational factors on organizational commitment of physicians and nurses.

    PubMed

    Miedaner, Felix; Kuntz, Ludwig; Enke, Christian; Roth, Bernhard; Nitzsche, Anika

    2018-03-15

    Physician and nursing shortages in acute and critical care settings require research on factors which might drive their commitment, an important predictor of absenteeism and turnover. However, the degree to which the commitment of a physician or a nurse is driven by individual or organizational characteristics in hospitals remains unclear. In addition, there is a need for a greater understanding of how antecedent-commitment relationships differ between both occupational groups. Based on recent findings in the literature and the results of a pilot study, we investigate the degree to which selected individual and organizational characteristics might enhance an employee's affective commitment working in the field of neonatal intensive care. Moreover, our aim is to examine the different antecedent-commitment relationships across the occupational groups of nurses and physicians. Information about individual factors affecting organizational commitment was derived from self-administered staff questionnaires, while additional information about organizational structures was taken from hospital quality reports and a self-administered survey completed by hospital department heads. Overall, 1486 nurses and 540 physicians from 66 Neonatal Intensive Care Units participated in the study. We used multilevel modeling to account for different levels of analysis. Although organizational characteristics can explain differences in an employee's commitment, the differences can be largely explained by his or her individual characteristics and work experiences. Regarding occupational differences, individual support by leaders and colleagues was shown to influence organizational commitment more strongly in the physicians' group. In contrast, the degree of autonomy in the units and perceived quality of care had a larger impact on the nurses' organizational commitment. With the growing number of hospitals facing an acute shortage of highly-skilled labor, effective strategies on the individual and organizational levels have to be considered to enhance an employee's commitment to his or her organization. Regarding occupational differences in antecedent-commitment relationships, more specific management actions should be undertaken to correspond to different needs and aspirations of nurses and physicians. German Clinical Trials Register ( DRKS00004589 , date of trial registration: 15.05.2013).

  7. Anthropogenic noise pollution from pile-driving disrupts the structure and dynamics of fish shoals.

    PubMed

    Herbert-Read, James E; Kremer, Louise; Bruintjes, Rick; Radford, Andrew N; Ioannou, Christos C

    2017-09-27

    Noise produced from a variety of human activities can affect the physiology and behaviour of individual animals, but whether noise disrupts the social behaviour of animals is largely unknown. Animal groups such as flocks of birds or shoals of fish use simple interaction rules to coordinate their movements with near neighbours. In turn, this coordination allows individuals to gain the benefits of group living such as reduced predation risk and social information exchange. Noise could change how individuals interact in groups if noise is perceived as a threat, or if it masked, distracted or stressed individuals, and this could have impacts on the benefits of grouping. Here, we recorded trajectories of individual juvenile seabass ( Dicentrarchus labrax ) in groups under controlled laboratory conditions. Groups were exposed to playbacks of either ambient background sound recorded in their natural habitat, or playbacks of pile-driving, commonly used in marine construction. The pile-driving playback affected the structure and dynamics of the fish shoals significantly more than the ambient-sound playback. Compared to the ambient-sound playback, groups experiencing the pile-driving playback became less cohesive, less directionally ordered, and were less correlated in speed and directional changes. In effect, the additional-noise treatment disrupted the abilities of individuals to coordinate their movements with one another. Our work highlights the potential for noise pollution from pile-driving to disrupt the collective dynamics of fish shoals, which could have implications for the functional benefits of a group's collective behaviour. © 2017 The Authors.

  8. Anthropogenic noise pollution from pile-driving disrupts the structure and dynamics of fish shoals

    PubMed Central

    Kremer, Louise; Bruintjes, Rick

    2017-01-01

    Noise produced from a variety of human activities can affect the physiology and behaviour of individual animals, but whether noise disrupts the social behaviour of animals is largely unknown. Animal groups such as flocks of birds or shoals of fish use simple interaction rules to coordinate their movements with near neighbours. In turn, this coordination allows individuals to gain the benefits of group living such as reduced predation risk and social information exchange. Noise could change how individuals interact in groups if noise is perceived as a threat, or if it masked, distracted or stressed individuals, and this could have impacts on the benefits of grouping. Here, we recorded trajectories of individual juvenile seabass (Dicentrarchus labrax) in groups under controlled laboratory conditions. Groups were exposed to playbacks of either ambient background sound recorded in their natural habitat, or playbacks of pile-driving, commonly used in marine construction. The pile-driving playback affected the structure and dynamics of the fish shoals significantly more than the ambient-sound playback. Compared to the ambient-sound playback, groups experiencing the pile-driving playback became less cohesive, less directionally ordered, and were less correlated in speed and directional changes. In effect, the additional-noise treatment disrupted the abilities of individuals to coordinate their movements with one another. Our work highlights the potential for noise pollution from pile-driving to disrupt the collective dynamics of fish shoals, which could have implications for the functional benefits of a group's collective behaviour. PMID:28954915

  9. Affect and Cognition in Attitude Formation toward Familiar and Unfamiliar Attitude Objects.

    PubMed

    van Giesen, Roxanne I; Fischer, Arnout R H; van Dijk, Heleen; van Trijp, Hans C M

    2015-01-01

    At large attitudes are built on earlier experience with the attitude object. If earlier experiences are not available, as is the case for unfamiliar attitude objects such as new technologies, no stored evaluations exist. Yet, people are still somehow able to construct attitudes on the spot. Depending on the familiarity of the attitude object, attitudes may find their basis more in affect or cognition. The current paper investigates differences in reliance on affect or cognition in attitude formation toward familiar and unfamiliar realistic attitude objects. In addition, individual differences in reliance on affect (high faith in intuition) or cognition (high need for cognition) are taken into account. In an experimental survey among Dutch consumers (N = 1870), we show that, for unfamiliar realistic attitude objects, people rely more on affect than cognition. For familiar attitude objects where both affective and cognitive evaluations are available, high need for cognition leads to more reliance on cognition, and high faith in intuition leads to more reliance on affect, reflecting the influence of individually preferred thinking style. For people with high need for cognition, cognition has a higher influence on overall attitude for both familiar and unfamiliar realistic attitude objects. On the other hand, affect is important for people with high faith in intuition for both familiar and unfamiliar attitude objects and for people with low faith in intuition for unfamiliar attitude objects; this shows that preferred thinking style is less influential for unfamiliar objects. By comparing attitude formation for familiar and unfamiliar realistic attitude objects, this research contributes to understanding situations in which affect or cognition is the better predictor of overall attitudes.

  10. Daily affective experiences predict objective sleep outcomes among adolescents.

    PubMed

    Tavernier, Royette; Choo, Sungsub B; Grant, Kathryn; Adam, Emma K

    2016-02-01

    Adolescence is a sensitive period for changes in both sleep and affect. Although past research has assessed the association between affect and sleep among adolescents, few studies have examined both trait (typical) and day-to-day changes in affect, and fewer still have specifically examined negative social evaluative emotions (e.g. embarrassment) in relation to sleep. Both between- and within-person variations in daily affect were examined in relation to four objectively-measured sleep outcomes (sleep hours; sleep latency; sleep efficiency; and length of wake bouts) among adolescents. Participants (N = 77 high-school students; 42.9% female; M = 14.37 years) wore an actiwatch and completed daily-diaries for 3 days. The results of hierarchical linear models (controlling for age, gender, race, ethnicity, parental employment status, income, puberty and caffeine) indicated that negative social evaluative emotions and high-arousal affective experiences generally predicted poor sleep outcomes, whereas low-arousal affective experiences were associated with good sleep outcomes. Specifically, at the person level, adolescents reporting higher negative social evaluative emotions had shorter average sleep hours, and those experiencing higher anxiety–nervousness had longer wake bouts. In addition, individuals experiencing more dysphoria (sad, depressed, lonely) had longer average sleep hours and shorter wake bouts, while those experiencing more calmness had shorter sleep latencies. At the within-person level, individuals had longer sleep latencies following days that they had experienced high-arousal positive affect (e.g. excitement), and had longer wake bouts following days they had experienced more negative social evaluative emotions. The results highlight the detrimental effects of negative social evaluative emotions and high-arousal affective states for adolescent sleep. © 2015 The Authors. Journal of Sleep Research published by John Wiley & Sons Ltd on behalf of European Sleep Research Society.

  11. Affect and Cognition in Attitude Formation toward Familiar and Unfamiliar Attitude Objects

    PubMed Central

    van Giesen, Roxanne I.

    2015-01-01

    At large attitudes are built on earlier experience with the attitude object. If earlier experiences are not available, as is the case for unfamiliar attitude objects such as new technologies, no stored evaluations exist. Yet, people are still somehow able to construct attitudes on the spot. Depending on the familiarity of the attitude object, attitudes may find their basis more in affect or cognition. The current paper investigates differences in reliance on affect or cognition in attitude formation toward familiar and unfamiliar realistic attitude objects. In addition, individual differences in reliance on affect (high faith in intuition) or cognition (high need for cognition) are taken into account. In an experimental survey among Dutch consumers (N = 1870), we show that, for unfamiliar realistic attitude objects, people rely more on affect than cognition. For familiar attitude objects where both affective and cognitive evaluations are available, high need for cognition leads to more reliance on cognition, and high faith in intuition leads to more reliance on affect, reflecting the influence of individually preferred thinking style. For people with high need for cognition, cognition has a higher influence on overall attitude for both familiar and unfamiliar realistic attitude objects. On the other hand, affect is important for people with high faith in intuition for both familiar and unfamiliar attitude objects and for people with low faith in intuition for unfamiliar attitude objects; this shows that preferred thinking style is less influential for unfamiliar objects. By comparing attitude formation for familiar and unfamiliar realistic attitude objects, this research contributes to understanding situations in which affect or cognition is the better predictor of overall attitudes. PMID:26517876

  12. Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.

    PubMed

    Isojima, Tsuyoshi; Yokoya, Susumu

    2017-12-01

    Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

  13. Pons to Posterior Cingulate Functional Projections Predict Affective Processing Changes in the Elderly Following Eight Weeks of Meditation Training.

    PubMed

    Shao, Robin; Keuper, Kati; Geng, Xiujuan; Lee, Tatia M C

    2016-08-01

    Evidence indicates meditation facilitates affective regulation and reduces negative affect. It also influences resting-state functional connectivity between affective networks and the posterior cingulate (PCC)/precuneus, regions critically implicated in self-referential processing. However, no longitudinal study employing active control group has examined the effect of meditation training on affective processing, PCC/precuneus connectivity, and their association. Here, we report that eight-week meditation, but not relaxation, training 'neutralized' affective processing of positive and negative stimuli in healthy elderly participants. Additionally, meditation versus relaxation training increased the positive connectivity between the PCC/precuneus and the pons, the direction of which was largely directed from the pons to the PCC/precuneus, as revealed by dynamic causal modeling. Further, changes in connectivity between the PCC/precuneus and pons predicted changes in affective processing after meditation training. These findings indicate meditation promotes self-referential affective regulation based on increased regulatory influence of the pons on PCC/precuneus, which new affective-processing strategy is employed across both resting state and when evaluating affective stimuli. Such insights have clinical implications on interventions on elderly individuals with affective disorders. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  14. Neuroticism Increases PTSD Symptom Severity by Amplifying the Emotionality, Rehearsal, and Centrality of Trauma Memories.

    PubMed

    Ogle, Christin M; Siegler, Ilene C; Beckham, Jean C; Rubin, David C

    2017-10-01

    Although it is well established that neuroticism increases the risk of posttraumatic stress disorder (PTSD), little is known about the mechanisms that promote PTSD in individuals with elevated levels of neuroticism. Across two studies, we examined the cognitive-affective processes through which neuroticism leads to greater PTSD symptom severity. Community-dwelling adults with trauma histories varying widely in severity (Study 1) and clinically diagnosed individuals exposed to DSM-IV-TR A1 criterion traumas (Study 2) completed measures of neuroticism, negative affectivity, trauma memory characteristics, and PTSD symptom severity. Longitudinal data in Study 1 showed that individuals with higher scores on two measures of neuroticism assessed approximately three decades apart in young adulthood and midlife reported trauma memories accompanied by more intense physiological reactions, more frequent involuntary rehearsal, and greater perceived centrality to identity in older adulthood. These properties of trauma memories were in turn associated with more severe PTSD symptoms. Study 2 replicated these findings using cross-sectional data from individuals with severe trauma histories and three additional measures of neuroticism. Results suggest that neuroticism leads to PTSD symptoms by magnifying the emotionality, availability, and centrality of trauma memories as proposed in mnemonic models of PTSD. © 2016 Wiley Periodicals, Inc.

  15. Impacts of Early Life Stress on the Methylome and Transcriptome of Atlantic Salmon.

    PubMed

    Moghadam, Hooman K; Johnsen, Hanne; Robinson, Nicholas; Andersen, Øivind; H Jørgensen, Even; Johnsen, Helge K; Bæhr, Vegar J; Tveiten, Helge

    2017-07-10

    Exposure to environmental stressors during early-life stages can change the rate and timing of various developmental processes. Epigenetic marks affecting transcriptional regulation can be altered by such environmental stimuli. To assess how stress might affect the methylome and transcriptome in salmon, fish were treated using cold-shock and air-exposure from the eye-stage until start-feeding. The fish were either stressed prior to hatching (E), post-hatching (PH), pre- and post-hatching (EPH) or not stressed (CO). Assessing transcriptional abundances just prior to start feeding, E and PH individuals were found to have modified the expression of thousands of genes, many with important functions in developmental processes. The EPH individuals however, showed expression similar to those of CO, suggesting an adaptive response to extended periods of stress. The methylome of stressed individuals differed from that of the CO, suggesting the importance of environment in shaping methylation signatures. Through integration of methylation with transcription, we identified bases with potential regulatory functions, some 10s of kb away from the targeted genes. We then followed fish growth for an additional year. Individuals in EPH showed superior growth compared to other treatment groups, highlighting how stress can potentially have long-lasting effects on an organism's ability to adapt to environmental perturbations.

  16. Questions of time and affect: a person's affectivity profile, time perspective, and well-being.

    PubMed

    Garcia, Danilo; Sailer, Uta; Nima, Ali Al; Archer, Trevor

    2016-01-01

    Background. A "balanced" time perspective has been suggested to have a positive influence on well-being: a sentimental and positive view of the past (high Past Positive), a less pessimistic attitude toward the past (low Past Negative), the desire of experiencing pleasure with slight concern for future consequences (high Present Hedonistic), a less fatalistic and hopeless view of the future (low Present Fatalistic), and the ability to find reward in achieving specific long-term goals (high Future). We used the affective profiles model (i.e., combinations of individuals' experience of high/low positive/negative affectivity) to investigate differences between individuals in time perspective dimensions and to investigate if the influence of time perspective dimensions on well-being was moderated by the individual's type of profile. Method. Participants (N = 720) answered to the Positive Affect Negative Affect Schedule, the Zimbardo Time Perspective Inventory and two measures of well-being: the Temporal Satisfaction with Life Scale and Ryff's Scales of Psychological Well-Being-short version. A Multivariate Analysis of Variance (MANOVA) was conducted to identify differences in time perspective dimensions and well-being among individuals with distinct affective profiles. Four structural equation models (SEM) were used to investigate which time perspective dimensions predicted well-being for individuals in each profile. Results. Comparisons between individuals at the extreme of the affective profiles model suggested that individuals with a self-fulfilling profile (high positive/low negative affect) were characterized by a "balanced" time perspective and higher well-being compared to individuals with a self-destructive profile (low positive/high negative affect). However, a different pattern emerged when individuals who differed in one affect dimension but matched in the other were compared to each other. For instance, decreases in the past negative time perspective dimension lead to high positive affect when negative affect is high (i.e., self-destructive vs. high affective) but to low negative affect when positive affect was high (i.e., high affective vs. self-fulfilling). The moderation analyses showed, for example, that for individuals with a self-destructive profile, psychological well-being was significantly predicted by the past negative, present fatalistic and future time perspectives. Among individuals with a high affective or a self-fulfilling profile, psychological well-being was significantly predicted by the present fatalistic dimension. Conclusions. The interactions found here go beyond the postulation of a "balanced" time perspective being the only way to promote well-being. Instead, we present a more person-centered approach to achieve higher levels of emotional, cognitive, and psychological well-being.

  17. Anticipating evaluative social interactions involving persons with disabilities.

    PubMed

    Santuzzi, Alecia M

    2011-08-01

    Similar to other types of social interactions, the expected outcomes of interactions between persons with and without disabilities likely are influenced by global self-esteem such that individuals with high self-esteem should fare better than those with low self-esteem. The present set of laboratory studies examined whether simple and complex evaluative situations affect the role of self-esteem when anticipating interactions with individuals who have a physical disability. In Study 1, participants completed a measure of global self-esteem and then were randomly assigned to expect either a brief (5 minutes) or extended (45 minutes) interaction with a confederate in a wheelchair. Participants then completed measures of state affect and meta-evaluations (expected evaluations from the partner). Study 2 replicated the design of Study 1 and additionally randomly assigned participants to be outcome-dependent on the partner or not. Study 1 found that individuals reported affective experiences and expected meta-evaluations that were consistent with global self-esteem when expecting a brief interaction but not an extended interaction with the partner. Study 2 replicated and extended the results from Study 1, demonstrating that self-esteem resumed a priority when participants expected an extended interaction that also placed the participant in an outcome-dependent role. Taken together, the results seem to support a dilution of the role of self-esteem in simple evaluative situations but not in situations that are nonevaluative or situations with combined evaluative factors.

  18. The effect of individual enabling and support on empowerment and depression severity in persons with affective disorders: outcome of a randomized control trial.

    PubMed

    Porter, Susann; Bejerholm, Ulrika

    2018-05-01

    To evaluate the effect of Individual Enabling and Support (IES) on empowerment and depression severity as compared to Traditional Vocational Rehabilitation (TVR) in people with affective disorders at 12 months follow-up. Additionally, longitudinal changes within the intervention groups and the correlation over time between empowerment and depression severity were evaluated. A single-blind randomized controlled trial of two intervention groups, IES (n = 33) and TVR (n = 28), was performed with measurement points at baseline, 6, and 12 months. Individuals with affective disorders, including depression and bipolar disorder diagnoses were included. The Empowerment Scale and Montgomery-Åsberg Depression Self-Rating Scale were administered, and Intention-To-Treat analysis was applied. The study was registered with the trial number ISRCTN93470551. There was a statistically significant difference between the intervention groups on empowerment and depression severity at 12 months. Within-group analysis showed that IES-participants increased their perceived empowerment and decreased their depression severity between measurement points, this was not seen among TVR-participants. A moderate, inverse relationship was detected between empowerment and depression. IES is more effective in increasing empowerment and decreasing depression severity after a 12-month intervention than is TVR. This study was limited by a small sample size and larger trials in different contexts are needed.

  19. Crohn's disease in adolescence: presentation and treatment.

    PubMed

    Cullen, Mick; Barnes, Claire

    2015-05-13

    Crohn's disease is a chronic inflammatory bowel condition that affects more than 115,000 people in the UK. This article focuses on Crohn's disease in adolescents. Management of the condition in this group should address adolescent-specific characteristics and treatment goals. Key elements include optimising growth, pubertal development and social functioning, including education. The condition can affect an individual's mental and emotional wellbeing significantly, as well as their physical health. As adolescence is a time of great change, the additional burden of a chronic illness can prove difficult to manage. The authors provide information on the presentation of Crohn's disease in adolescence and insights into the particular issues encountered by this group.

  20. Inherited Retinal Degenerative Clinical Trial Network. Addendum

    DTIC Science & Technology

    2013-10-01

    visual impairment usually ending in blindness. In the United States, the total number of individuals affected by retinitis pigmentosa (RP) and other...linica l trial in the NEER network for autosomal dominant retinitis pigmentosa , and the ProgSTAR studies for Stargardt disease) . As new interventions b... retinitis pigmentosa continues at six sites- the CTEC site at University of Utah and five additional recruitment sites- the Retina Foundation of the

  1. Navigating cancer using online communities: a grounded theory of survivor and family experiences.

    PubMed

    Harkin, Lydia Jo; Beaver, Kinta; Dey, Paola; Choong, Kartina

    2017-12-01

    People affected by cancer often have unmet emotional and social support needs. Online cancer communities are a convenient channel for connecting cancer survivors, allowing them to support one another. However, it is unclear whether online community use makes a meaningful contribution to cancer survivorship, as little previous research has examined the experience of using contemporary cancer communities. We aimed to explore the experiences of visitors to online cancer communities. Twenty-three in-depth interviews were conducted with online cancer community visitors, including cancer survivors (n = 18), family members (n = 2), and individuals who were both a survivor and family member (n = 3). Interviews were analysed using a grounded theory approach. A theory developed explaining how individuals 'navigated' the experience of cancer using online cancer communities. Online advice and information led participants on a 'journey to become informed'. Online friendships normalised survivorship and cast participants on a 'journey to recreate identity'. Participants navigated a 'journey through different worlds' as they discovered relevant and hidden communities. This theory highlights virtual paths people affected by cancer can take to self-manage their experience of the disease. Online community experiences can be improved by promoting online evaluation skills and signposting visitors to bereavement support. Cancer survivors can benefit through both lurking and posting in online communities. However, individuals risk becoming distressed when they befriend individuals who may soon die. Additionally, people affected by rarer cancers can struggle to find shared experiences online and may need to look elsewhere for support.

  2. Cues of fatigue: effects of sleep deprivation on facial appearance.

    PubMed

    Sundelin, Tina; Lekander, Mats; Kecklund, Göran; Van Someren, Eus J W; Olsson, Andreas; Axelsson, John

    2013-09-01

    To investigate the facial cues by which one recognizes that someone is sleep deprived versus not sleep deprived. Experimental laboratory study. Karolinska Institutet, Stockholm, Sweden. Forty observers (20 women, mean age 25 ± 5 y) rated 20 facial photographs with respect to fatigue, 10 facial cues, and sadness. The stimulus material consisted of 10 individuals (five women) photographed at 14:30 after normal sleep and after 31 h of sleep deprivation following a night with 5 h of sleep. Ratings of fatigue, fatigue-related cues, and sadness in facial photographs. The faces of sleep deprived individuals were perceived as having more hanging eyelids, redder eyes, more swollen eyes, darker circles under the eyes, paler skin, more wrinkles/fine lines, and more droopy corners of the mouth (effects ranging from b = +3 ± 1 to b = +15 ± 1 mm on 100-mm visual analog scales, P < 0.01). The ratings of fatigue were related to glazed eyes and to all the cues affected by sleep deprivation (P < 0.01). Ratings of rash/eczema or tense lips were not significantly affected by sleep deprivation, nor associated with judgements of fatigue. In addition, sleep-deprived individuals looked sadder than after normal sleep, and sadness was related to looking fatigued (P < 0.01). The results show that sleep deprivation affects features relating to the eyes, mouth, and skin, and that these features function as cues of sleep loss to other people. Because these facial regions are important in the communication between humans, facial cues of sleep deprivation and fatigue may carry social consequences for the sleep deprived individual in everyday life.

  3. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.

    PubMed

    Tamayo, Marta L; Gelvez, Nancy; Rodriguez, Marcela; Florez, Silvia; Varon, Clara; Medina, David; Bernal, Jaime E

    2008-04-15

    A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45 non-institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). The majority of individuals had normal psychomotor development (87%), while the remaining 13% had developmental delay. Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter- and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression. Copyright 2008 Wiley-Liss, Inc.

  4. The impact of pre-existing anxiety on affective and cognitive processing of a Virtual Reality analogue trauma.

    PubMed

    Schweizer, Tina; Schmitz, Julian; Plempe, Laura; Sun, Dali; Becker-Asano, Christian; Leonhart, Rainer; Tuschen-Caffier, Brunna

    2017-01-01

    Dysfunctional processing of traumatic events may be in particular related to high trait anxiety as a pre-traumatic risk factor for the development of post-traumatic stress disorder (PTSD). However, as this has rarely been investigated in prospective, experimental studies, we aimed to analyse the association between high trait anxiety and affective as well as cognitive processing of stress using a new prospective Virtual Reality analogue trauma paradigm to overcome limitations of retrospective or current analogue designs. Individuals with high and low trait anxiety (N = 80) were exposed to a multi-sensory Virtual Reality emergency scenario while psychophysiological stress response, emotion regulation and intrusive memories were assessed. Our results showed that high trait anxiety individuals display increased (i) subjective stress responses, (ii) emotion dysregulation and (iii) intrusive memories upon VR analogue trauma exposure. In particular, our sample of high trait anxiety individuals displayed limited access to different emotion regulation strategies as well as increased worry and rumination regarding perceived intrusive memories. Considering the complex interplay of multiple risk factors, our findings suggests that peri-traumatic affective processing seems to mediate high trait anxiety and post-traumatic intrusive memories thereby pointing out the central role of peri-traumatic processes for intrusion development. In addition, HA as a modulating pre-traumatic risk factor might further increase the risk of later dysfunctional processing of an analogue trauma by interacting with factors of affective processing during analogue trauma exposure. Implications of these findings which may contribute to a higher risk to develop PTSD are discussed.

  5. The impact of pre-existing anxiety on affective and cognitive processing of a Virtual Reality analogue trauma

    PubMed Central

    Schmitz, Julian; Plempe, Laura; Sun, Dali; Becker-Asano, Christian; Leonhart, Rainer; Tuschen-Caffier, Brunna

    2017-01-01

    Dysfunctional processing of traumatic events may be in particular related to high trait anxiety as a pre-traumatic risk factor for the development of post-traumatic stress disorder (PTSD). However, as this has rarely been investigated in prospective, experimental studies, we aimed to analyse the association between high trait anxiety and affective as well as cognitive processing of stress using a new prospective Virtual Reality analogue trauma paradigm to overcome limitations of retrospective or current analogue designs. Individuals with high and low trait anxiety (N = 80) were exposed to a multi-sensory Virtual Reality emergency scenario while psychophysiological stress response, emotion regulation and intrusive memories were assessed. Our results showed that high trait anxiety individuals display increased (i) subjective stress responses, (ii) emotion dysregulation and (iii) intrusive memories upon VR analogue trauma exposure. In particular, our sample of high trait anxiety individuals displayed limited access to different emotion regulation strategies as well as increased worry and rumination regarding perceived intrusive memories. Considering the complex interplay of multiple risk factors, our findings suggests that peri-traumatic affective processing seems to mediate high trait anxiety and post-traumatic intrusive memories thereby pointing out the central role of peri-traumatic processes for intrusion development. In addition, HA as a modulating pre-traumatic risk factor might further increase the risk of later dysfunctional processing of an analogue trauma by interacting with factors of affective processing during analogue trauma exposure. Implications of these findings which may contribute to a higher risk to develop PTSD are discussed. PMID:29287111

  6. Negative and positive interactions among plants: effects of competitors and litter on seedling emergence and growth of forest and grassland species.

    PubMed

    Loydi, A; Donath, T W; Otte, A; Eckstein, R L

    2015-05-01

    Living plant neighbours, but also their dead aboveground remains (i.e. litter), may individually exert negative or positive effects on plant recruitment. Although living plants and litter co-occur in most ecosystems, few studies have addressed their combined effects, and conclusions are ambivalent. Therefore, we examined the response in terms of seedling emergence and growth of herbaceous grassland and forest species to different litter types and amounts and the presence of competitors. We conducted a pot experiment testing the effects of litter type (grass, oak), litter amount (low, medium, high) and interspecific competition (presence or absence of four Festuca arundinacea individuals) on seedling emergence and biomass of four congeneric pairs of hemicryptophytes from two habitat types (woodland, grassland). Interactions between litter and competition were weak. Litter presence increased competitor biomass. It also had positive effects on seedling emergence at low litter amounts and negative effects at high litter amounts, while competition had no effect on seedling emergence. Seedling biomass was negatively affected by the presence of competitors, and this effect was stronger in combination with high amounts of litter. Litter affected seedling emergence while competition determined the biomass of the emerged individuals, both affecting early stages of seedling recruitment. High litter accumulation also reduced seedling biomass, but this effect seemed to be additive to competitor effects. This suggests that live and dead plant mass can affect species recruitment in natural systems, but the mechanisms by which they operate and their timing differ. © 2014 German Botanical Society and The Royal Botanical Society of the Netherlands.

  7. Are Rich People Perceived as More Trustworthy? Perceived Socioeconomic Status Modulates Judgments of Trustworthiness and Trust Behavior Based on Facial Appearance.

    PubMed

    Qi, Yue; Li, Qi; Du, Feng

    2018-01-01

    In the era of globalization, people meet strangers from different countries more often than ever. Previous research indicates that impressions of trustworthiness based on facial appearance play an important role in interpersonal cooperation behaviors. The current study examined whether additional information about socioeconomic status (SES), including national prosperity and individual monthly income, affects facial judgments and appearance-based trust decisions. Besides reproducing previous conclusions that trustworthy faces receive more money than untrustworthy faces, the present study showed that high-income individuals were judged as more trustworthy than low-income individuals, and also were given more money in a trust game. However, trust behaviors were not modulated by the nationality of the faces. The present research suggests that people are more likely to trust strangers with a high income, compared with individuals with a low income.

  8. Articulatory-acoustic vowel space: application to clear speech in individuals with Parkinson's disease.

    PubMed

    Whitfield, Jason A; Goberman, Alexander M

    2014-01-01

    Individuals with Parkinson disease (PD) often exhibit decreased range of movement secondary to the disease process, which has been shown to affect articulatory movements. A number of investigations have failed to find statistically significant differences between control and disordered groups, and between speaking conditions, using traditional vowel space area measures. The purpose of the current investigation was to evaluate both between-group (PD versus control) and within-group (habitual versus clear) differences in articulatory function using a novel vowel space measure, the articulatory-acoustic vowel space (AAVS). The novel AAVS is calculated from continuously sampled formant trajectories of connected speech. In the current study, habitual and clear speech samples from twelve individuals with PD along with habitual control speech samples from ten neurologically healthy adults were collected and acoustically analyzed. In addition, a group of listeners completed perceptual rating of speech clarity for all samples. Individuals with PD were perceived to exhibit decreased speech clarity compared to controls. Similarly, the novel AAVS measure was significantly lower in individuals with PD. In addition, the AAVS measure significantly tracked changes between the habitual and clear conditions that were confirmed by perceptual ratings. In the current study, the novel AAVS measure is shown to be sensitive to disease-related group differences and within-person changes in articulatory function of individuals with PD. Additionally, these data confirm that individuals with PD can modulate the speech motor system to increase articulatory range of motion and speech clarity when given a simple prompt. The reader will be able to (i) describe articulatory behavior observed in the speech of individuals with Parkinson disease; (ii) describe traditional measures of vowel space area and how they relate to articulation; (iii) describe a novel measure of vowel space, the articulatory-acoustic vowel space and its relationship to articulation and the perception of speech clarity. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. The effects of low-pay and unemployment on psychological well-being: a logistic regression approach.

    PubMed

    Theodossiou, I

    1998-01-01

    The paper explores the relationship between unemployment and mental distress. The analysis draws upon data from the 1992 British Household Panel Study (BHPS). Six different measures of mental distress are used. Controlling for a number of individual characteristics, unemployed individuals are found to suffer significantly higher odds of experiencing a marked rise in anxiety, depression and loss of confidence and a reduction in self-esteem and the level of general happiness even compared with individuals in low-paid employment. This finding highlights the involuntary nature of unemployment. The results also suggest that all six measures of psychological well-being are lower in middle age compared with younger and older age groups. In addition, women appear to be less affected by unemployment than men.

  10. The impact of meal consumption on emotion among individuals with eating disorders.

    PubMed

    Anderson, Lisa M; Crow, Scott J; Peterson, Carol B

    2014-01-01

    This pilot study sought to determine how meal consumption impacts affective states for treatment-seeking individuals with eating disorders (ED). Participants with heterogeneous ED diagnoses completed the State-Trait Anxiety Inventory, Positive and Negative Affect Schedule, and Profile of Mood States measures before and immediately after meal consumption. Meal consumption was associated with significant decreases in negative affect and total mood disturbance for individuals with binge eating disorder (BED). Decreases in negative affect across meal time for individuals with BED were significantly different from increases in negative affect for participants with anorexia nervosa (AN) and bulimia nervosa (BN). Findings indicate that individuals with BED have significantly different affective responses to eating non-binge meals than individuals with AN or BN. Data suggest changes in negative affect following meal consumption may be specific to certain ED diagnoses. Results provide preliminary evidence consistent with the idea that emotion states may function as maintenance mechanisms for psychopathology among ED diagnoses. Limitations and future directions pertaining to food-mood relationships for individuals with ED are discussed.

  11. Congenital adrenal hyperplasia: as viewed by parents of affected children in India--a pilot study.

    PubMed

    Bhakhri, Bhanu Kiran; Jain, Vandana

    2011-01-01

    A spectrum of myths and misconceptions about congenital adrenal hyperplasia (CAH) is prevalent among the parents of affected children in India. The perceptions of parents may affect several aspects of these children's management, and to explore these perceptions we carried out a cross-sectional questionnaire-based descriptive study during May 2010. Twenty-eight individuals (17 males and 11 females), parents of 22 affected children aged < 5 years, completed the questionnaire. Their responses showed the prevalence among the parents of misconceptions about CAH. These misconceptions were resulting in potentially harmful practices, and in addition there was immense societal pressure on the families as a result of ignorance and myths about the disorder. There is a need for regular CAH education and interaction programs to provide an acceptable platform for the parents and patients, where their concerns can be expressed and shared and their requirements addressed appropriately by a multidisciplinary team.

  12. Get Over It! A Multilevel Threshold Autoregressive Model for State-Dependent Affect Regulation.

    PubMed

    De Haan-Rietdijk, Silvia; Gottman, John M; Bergeman, Cindy S; Hamaker, Ellen L

    2016-03-01

    Intensive longitudinal data provide rich information, which is best captured when specialized models are used in the analysis. One of these models is the multilevel autoregressive model, which psychologists have applied successfully to study affect regulation as well as alcohol use. A limitation of this model is that the autoregressive parameter is treated as a fixed, trait-like property of a person. We argue that the autoregressive parameter may be state-dependent, for example, if the strength of affect regulation depends on the intensity of affect experienced. To allow such intra-individual variation, we propose a multilevel threshold autoregressive model. Using simulations, we show that this model can be used to detect state-dependent regulation with adequate power and Type I error. The potential of the new modeling approach is illustrated with two empirical applications that extend the basic model to address additional substantive research questions.

  13. Reduced thalamic volume in men with antisocial personality disorder or schizophrenia and a history of serious violence and childhood abuse.

    PubMed

    Kumari, V; Gudjonsson, G H; Raghuvanshi, S; Barkataki, I; Taylor, P; Sumich, A; Das, K; Kuipers, E; Ffytche, D H; Das, M

    2013-05-01

    Violent behaviour has been associated with presence of certain mental disorders, most notably antisocial personality disorder (ASPD) and schizophrenia, childhood abuse, and multiple brain abnormalities. This study examined for the first time, to the authors' knowledge, the role of psychosocial deprivation (PSD), including childhood physical and sexual abuse, in structural brain volumes of violent individuals with ASPD or schizophrenia. Fifty-six men (26 with ASPD or schizophrenia and a history of serious violence, 30 non-violent) underwent magnetic resonance imaging and were assessed on PSD. Stereological volumetric brain ratings were examined for group differences and their association with PSD ratings. PSD-brain associations were examined further using voxel-based-morphometry. The findings revealed: reduced thalamic volume in psychosocially-deprived violent individuals, relative to non-deprived violent individuals and healthy controls; negative association between thalamic volume and abuse ratings (physical and sexual) in violent individuals; and trend-level negative associations between PSD and hippocampal and prefrontal volumes in non-violent individuals. The voxel-based-morphometry analysis detected a negative association between PSD and localised grey matter volumes in the left inferior frontal region across all individuals, and additionally in the left middle frontal and precentral gyri in non-violent individuals. Violent mentally-disordered individuals with PSD, relative to those with no or minimal PSD, suffer from an additional brain deficit, i.e., reduced thalamic volume; this may affect sensory information processing, and have implications for management, of these individuals. PSD may have a stronger relationship with volumetric loss of stress-linked regions, namely the frontal cortex, in non-violent individuals. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  14. Who I am depends on how I feel: the role of affect in the expression of culture.

    PubMed

    Ashton-James, Claire E; Maddux, William W; Galinsky, Adam D; Chartrand, Tanya L

    2009-03-01

    We present a novel role of affect in the expression of culture. Four experiments tested whether individuals' affective states moderate the expression of culturally normative cognitions and behaviors. We consistently found that value expressions, self-construals, and behaviors were less consistent with cultural norms when individuals were experiencing positive rather than negative affect. Positive affect allowed individuals to explore novel thoughts and behaviors that departed from cultural constraints, whereas negative affect bound people to cultural norms. As a result, when Westerners experienced positive rather than negative affect, they valued self-expression less, showed a greater preference for objects that reflected conformity, viewed the self in more interdependent terms, and sat closer to other people. East Asians showed the reverse pattern for each of these measures, valuing and expressing individuality and independence more when experiencing positive than when experiencing negative affect. The results suggest that affect serves an important functional purpose of attuning individuals more or less closely to their cultural heritage.

  15. Risk of oral tongue cancer among immunocompromised transplant recipients and human immunodeficiency virus-infected individuals in the United States.

    PubMed

    Tota, Joseph E; Engels, Eric A; Madeleine, Margaret M; Clarke, Christina A; Lynch, Charles F; Ortiz, Ana P; Hernandez, Brenda Y; Chaturvedi, Anil K

    2018-04-12

    Oral tongue cancer incidence has increased among whites in the United States; however, the cause remains unknown. If an infectious agent is implicated, then elevated risk would be expected among immunosuppressed individuals. By using population-based registry linkage information from the US Transplant Cancer Match and human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) Cancer Match studies, the authors examined the risk of oral tongue squamous cell carcinoma (SCC) among immunocompromised transplantation recipients and HIV-infected individuals. In addition, the risks of oropharyngeal SCC (strongly related to human papillomavirus infection; modestly affected by immunosuppression), other tobacco/alcohol-related oral cavity SCCs (not thought to be infection/immunosuppression-related), and non-Hodgkin lymphoma of oral cavity/pharynx (strongly related to Epstein-Barr virus; profoundly affected by immunosuppression) were evaluated. Compared with the general population, the risk of non-Hodgkin lymphoma was strongly increased (standardized incidence ratio [SIR] > 8.0). The risk of all SCCs was modestly and similarly elevated among transplantation recipients (SIR range, 2.2-2.7; P heterogeneity  = .2); whereas, among HIV-infected individuals, the risk of oral tongue SCC was higher compared with the risk of other SCCs (SIR, 3.0 vs 1.7 [for oropharyngeal SCCs] and 2.3 [for other oral cavity SCCs]; P heterogeneity  < .001). The risk of SCCs was significantly higher among men, older individuals, and whites; and risk increased with the time since transplantation/AIDS onset. The risk of oral tongue SCC was significantly higher among HIV-infected men who have sex with men compared with the average risk in HIV-infected individuals (adjusted incidence rate ratio = 2.0). Similar modest increases in the risk of oral tongue and other oral cavity SCCs do not suggest that an infectious agent or exposure profoundly affected by immunosuppression underlies the increase in oral tongue cancer. Cancer 2018. © 2018 American Cancer Society. © 2018 American Cancer Society.

  16. They know the words, but not the music: affective and semantic priming in individuals with psychopathy.

    PubMed

    Blair, K S; Richell, R A; Mitchell, D G V; Leonard, A; Morton, J; Blair, R J R

    2006-08-01

    Previous work has indicated dysfunctional affect-language interactions in individuals with psychopathy through use of the lexical decision task. However, it has been uncertain as to whether these deficits actually reflect impaired affect-language interactions or a more fundamental deficit in general semantic processing. In this study, we examined affective priming and semantic priming (dependent measures were reaction times and error rates) in individuals with psychopathy and comparison individuals, classified according to the psychopathy checklist revised (PCL-R) [Hare, R.D., 1991. The Hare Psychopathy Checklist-Revised. Multi-Health Systems, Toronto, Ont] Individuals with psychopathy showed significantly less affective priming relative to comparison individuals. In contrast, the two groups showed comparable levels of semantic priming. The results are discussed with reference to current models of psychopathy.

  17. The effects of reading comprehension and launch site on frequency-predictability interactions during paragraph reading.

    PubMed

    Whitford, Veronica; Titone, Debra

    2014-01-01

    We used eye movement measures of paragraph reading to examine whether word frequency and predictability interact during the earliest stages of lexical processing, with a specific focus on whether these effects are modulated by individual differences in reading comprehension or launch site (i.e., saccade length between the prior and currently fixated word--a proxy for the amount of parafoveal word processing). The joint impact of frequency and predictability on reading will elucidate whether these variables additively or multiplicatively affect the earliest stages of lexical access, which, in turn, has implications for computational models of eye movements during reading. Linear mixed effects models revealed additive effects during both early- and late-stage reading, where predictability effects were comparable for low- and high-frequency words. Moreover, less cautious readers (e.g., readers who engaged in skimming, scanning, mindless reading) demonstrated smaller frequency effects than more cautious readers. Taken together, our findings suggest that during extended reading, frequency and predictability exert additive influences on lexical and postlexical processing, and that individual differences in reading comprehension modulate sensitivity to the effects of word frequency.

  18. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

    PubMed

    Carss, Keren J; Stevens, Elizabeth; Foley, A Reghan; Cirak, Sebahattin; Riemersma, Moniek; Torelli, Silvia; Hoischen, Alexander; Willer, Tobias; van Scherpenzeel, Monique; Moore, Steven A; Messina, Sonia; Bertini, Enrico; Bönnemann, Carsten G; Abdenur, Jose E; Grosmann, Carla M; Kesari, Akanchha; Punetha, Jaya; Quinlivan, Ros; Waddell, Leigh B; Young, Helen K; Wraige, Elizabeth; Yau, Shu; Brodd, Lina; Feng, Lucy; Sewry, Caroline; MacArthur, Daniel G; North, Kathryn N; Hoffman, Eric; Stemple, Derek L; Hurles, Matthew E; van Bokhoven, Hans; Campbell, Kevin P; Lefeber, Dirk J; Lin, Yung-Yao; Muntoni, Francesco

    2013-07-11

    Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in 14 genes thought to be involved in the glycosylation of α-DG have been identified thus far. Allelic mutations in these genes might also cause milder limb-girdle muscular dystrophy phenotypes. Using a combination of exome and Sanger sequencing in eight unrelated individuals, we present evidence that mutations in guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) can result in muscular dystrophy variants with hypoglycosylated α-DG. GMPPB catalyzes the formation of GDP-mannose from GTP and mannose-1-phosphate. GDP-mannose is required for O-mannosylation of proteins, including α-DG, and it is the substrate of cytosolic mannosyltransferases. We found reduced α-DG glycosylation in the muscle biopsies of affected individuals and in available fibroblasts. Overexpression of wild-type GMPPB in fibroblasts from an affected individual partially restored glycosylation of α-DG. Whereas wild-type GMPPB localized to the cytoplasm, five of the identified missense mutations caused formation of aggregates in the cytoplasm or near membrane protrusions. Additionally, knockdown of the GMPPB ortholog in zebrafish caused structural muscle defects with decreased motility, eye abnormalities, and reduced glycosylation of α-DG. Together, these data indicate that GMPPB mutations are responsible for congenital and limb-girdle muscular dystrophies with hypoglycosylation of α-DG. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Genetic variation in foundation species governs the dynamics of trophic interactions

    PubMed Central

    Valencia-Cuevas, Leticia; Mussali-Galante, Patricia; Cano-Santana, Zenón; Pujade-Villar, Juli; Equihua-Martínez, Armando

    2018-01-01

    Abstract Various studies have demonstrated that the foundation species genetic diversity can have direct effects that extend beyond the individual or population level, affecting the dependent communities. Additionally, these effects may be indirectly extended to higher trophic levels throughout the entire community. Quercus castanea is an oak species with characteristics of foundation species beyond presenting a wide geographical distribution and being a dominant element of Mexican temperate forests. In this study, we analyzed the influence of population (He) and individual (HL) genetic diversity of Q. castanea on its canopy endophagous insect community and associated parasitoids. Specifically, we studied the composition, richness (S) and density of leaf-mining moths (Lepidoptera: Tischeridae, Citheraniidae), gall-forming wasps (Hymenoptera: Cynipidae), and canopy parasitoids of Q. castanea. We sampled 120 trees belonging to six populations (20/site) through the previously recognized gradient of genetic diversity. In total, 22 endophagous insect species belonging to three orders (Hymenoptera, Lepidoptera, and Diptera) and 20 parasitoid species belonging to 13 families were identified. In general, we observed that the individual genetic diversity of the host plant (HL) has a significant positive effect on the S and density of the canopy endophagous insect communities. In contrast, He has a significant negative effect on the S of endophagous insects. Additionally, indirect effects of HL were observed, affecting the S and density of parasitoid insects. Our results suggest that genetic variation in foundation species can be one of the most important factors governing the dynamics of tritrophic interactions that involve oaks, herbivores, and parasitoids. PMID:29492034

  20. Stratifying empiric risk of schizophrenia among first degree relatives using multiple predictors in two independent Indian samples.

    PubMed

    Bhatia, Triptish; Gettig, Elizabeth A; Gottesman, Irving I; Berliner, Jonathan; Mishra, N N; Nimgaonkar, Vishwajit L; Deshpande, Smita N

    2016-12-01

    Schizophrenia (SZ) has an estimated heritability of 64-88%, with the higher values based on twin studies. Conventionally, family history of psychosis is the best individual-level predictor of risk, but reliable risk estimates are unavailable for Indian populations. Genetic, environmental, and epigenetic factors are equally important and should be considered when predicting risk in 'at risk' individuals. To estimate risk based on an Indian schizophrenia participant's family history combined with selected demographic factors. To incorporate variables in addition to family history, and to stratify risk, we constructed a regression equation that included demographic variables in addition to family history. The equation was tested in two independent Indian samples: (i) an initial sample of SZ participants (N=128) with one sibling or offspring; (ii) a second, independent sample consisting of multiply affected families (N=138 families, with two or more sibs/offspring affected with SZ). The overall estimated risk was 4.31±0.27 (mean±standard deviation). There were 19 (14.8%) individuals in the high risk group, 75 (58.6%) in the moderate risk and 34 (26.6%) in the above average risk (in Sample A). In the validation sample, risks were distributed as: high (45%), moderate (38%) and above average (17%). Consistent risk estimates were obtained from both samples using the regression equation. Familial risk can be combined with demographic factors to estimate risk for SZ in India. If replicated, the proposed stratification of risk may be easier and more realistic for family members. Copyright © 2016. Published by Elsevier B.V.

  1. Threat perception after the Boston Marathon bombings: The effects of personal relevance and conceptual framing.

    PubMed

    Wormwood, Jolie Baumann; Lynn, Spencer K; Feldman Barrett, Lisa; Quigley, Karen S

    2016-01-01

    We examined how the Boston Marathon bombings affected threat perception in the Boston community. In a threat perception task, participants attempted to "shoot" armed targets and avoid shooting unarmed targets. Participants viewing images of the bombings accompanied by affectively negative music and text (e.g., "Terror Strikes Boston") made more false alarms (i.e., more errors "shooting" unarmed targets) compared to participants viewing the same images accompanied by affectively positive music and text (e.g., "Boston Strong") and participants who did not view bombing images. This difference appears to be driven by decreased sensitivity (i.e., decreased ability to distinguish guns from non-guns) as opposed to a more liberal bias (i.e., favouring the "shoot" response). Additionally, the more strongly affected the participant was by the bombings, the more their sensitivity was reduced in the negatively framed condition, suggesting that this framing was particularly detrimental to the most vulnerable individuals in the affected community.

  2. Individual differences in effects of child care quality: The role of child affective self-regulation and gender.

    PubMed

    Broekhuizen, Martine L; Aken, Marcel A G van; Dubas, Judith S; Mulder, Hanna; Leseman, Paul P M

    2015-08-01

    The current study investigated whether the relation between child care quality and children's socio-emotional behavior depended on children's affective self-regulation skills and gender. Participants were 545 children (Mage=27 months) from 60 center-based child care centers in the Netherlands. Multi-level analyses showed that children with low affective self-regulation skills or who were male demonstrated less teacher-rated social competence when exposed to relatively low quality child care. In addition, children with low affective self-regulation skills also showed more social competence in the case of relatively high quality child care, suggesting mechanisms of differential susceptibility. No main effects of child care quality or interactions were found for teacher- and parent-rated externalizing behavior. These findings emphasize the importance of considering children's affective self-regulation skills and gender in understanding the effects of child care quality. High quality child care can be a means to strengthen children's social development. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Negative Affect as a Mediator of the Relationship between Vigorous-Intensity Exercise and Smoking

    PubMed Central

    Tart, Candyce D.; Leyro, Teresa M.; Richter, Ashley; Zvolensky, Michael J.; Rosenfield, David; Smits, Jasper A. J.

    2010-01-01

    The present cross-sectional study evaluated whether people who engage in vigorous-intensity exercise are better able to regulate negative affective states, thereby changing core maintenance factors of smoking. Participants were a community sample of adults (n = 270) who completed self-report measures of physical activity, cigarette smoking, anxiety sensitivity, and negative affect. Consistent with hypothesis, vigorous-intensity exercise was related to lower levels of cigarette smoking, accounting for 10% of the variance in smoking. Additionally, negative affect mediated the relationship between vigorous-intensity physical activity and cigarette smoking, accounting for about 12% of this relation. Furthermore, these relationships were stronger for individuals with high anxiety sensitivity than for those with low anxiety sensitivity; including anxiety sensitivity as a moderator of the mediated relationship increased the amount of variance accounted for by negative affect to 17%. The findings are discussed in relation to developing further scientific insight into the mechanisms and pathways relevant to understanding the association among vigorous-intensity exercise, smoking, and emotional vulnerability. PMID:20171786

  4. Living Large: Affect Amplification in Visual Perception Predicts Emotional Reactivity to Events in Daily Life

    PubMed Central

    Palder, Spencer L.; Ode, Scott; Liu, Tianwei; Robinson, Michael D.

    2012-01-01

    It was hypothesized that affect-amplifying individuals would be more reactive to affective events in daily life. Affect amplification was quantified in terms of overestimating the font size of positive and negative, relative to neutral, words in a basic perception task. Subsequently, the same (N = 70) individuals completed a daily diary protocol in which they reported on levels of daily stressors, provocations, and social support as well as six emotion-related outcomes for 14 consecutive days. Individual differences in affect amplification moderated reactivity to daily affective events in all such analyses. For example, daily stressor levels predicted cognitive failures at high, but not low, levels of affect amplification. Affect amplification, then, appears to have widespread utility in understanding individual differences in emotional reactivity. PMID:22989107

  5. Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

    PubMed

    Spiegel, Ronen; Mandel, Hanna; Saada, Ann; Lerer, Issy; Burger, Ayala; Shaag, Avraham; Shalev, Stavit A; Jabaly-Habib, Haneen; Goldsher, Dorit; Gomori, John M; Lossos, Alex; Elpeleg, Orly; Meiner, Vardiella

    2014-08-01

    C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis.We used whole-genome homozygosity mapping as well as exome sequencing and targeted gene sequencing to identify novel C12orf65 disease-causing mutations in seven affected individuals originating from two consanguineous families. In four family members affected with childhood-onset optic atrophy accompanied by slowly progressive peripheral neuropathy and spastic paraparesis, we identified a homozygous frame shift mutation c.413_417 delAACAA, which predicts a truncated protein lacking the C-terminal portion. In the second family, we studied three affected individuals who presented with early onset optic atrophy, peripheral neuropathy, and spastic gait in addition to moderate intellectual disability. Muscle biopsy in two of the patients revealed decreased activities of the mitochondrial respiratory chain complexes I and IV. In these patients, we identified a homozygous splice mutation, g.21043 T>A (c.282+2 T>A) which leads to skipping of exon 2. Our study broadens the phenotypic spectrum of C12orf65 defects and highlights the triad of optic atrophy, axonal neuropathy and spastic paraparesis as its key clinical features. In addition, a clear genotype-phenotype correlation is anticipated in which deleterious mutations which disrupt the GGQ-containing domain in the first coding exon are expected to result in a more severe phenotype, whereas down-stream C-terminal mutations may result in a more favorable phenotype, typically lacking cognitive impairment.

  6. Microbiome analysis of a disease affecting the deep-sea sponge Geodia barretti.

    PubMed

    Luter, Heidi M; Bannister, Raymond J; Whalan, Steve; Kutti, Tina; Pineda, Mari-Carmen; Webster, Nicole S

    2017-05-24

    Reports of sponge disease are becoming increasingly frequent, although almost all instances involve shallow-water, tropical species. Here, we describe the first disease affecting the deep-water sponge, Geodia barretti. The disease is characterised by brown/black discolouration of the sponge tissue, extensive levels of tissue disintegration and increased levels of fouling. Disease prevalence was quantified using video survey transects conducted between 100 and 220 meters in Korsfjorden, Norway and the microbial communities of healthy and diseased sponges were compared using 16S rRNA gene sequencing. Highly divergent community profiles were evident between the different health states; with distinct community shifts involving higher relative abundances of Bacteroidetes, Firmicutes and Deltaproteobacteria in diseased individuals. In addition, three Operational Taxonomic Units (OTUs) were exclusively present in diseased individuals and were shared between the disease lesions and the apparently healthy tissue of diseased individuals, suggesting a non-localised infection or dysbiosis. Genomic analysis of the G. barretti microbiome combined with experimental work to assess the mechanisms of infection will further elucidate the role of microorganisms in the disease. © FEMS 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  7. Intergroup Conflict and Rational Decision Making

    PubMed Central

    Martínez-Tur, Vicente; Peñarroja, Vicente; Serrano, Miguel A.; Hidalgo, Vanesa; Moliner, Carolina; Salvador, Alicia; Alacreu-Crespo, Adrián; Gracia, Esther; Molina, Agustín

    2014-01-01

    The literature has been relatively silent about post-conflict processes. However, understanding the way humans deal with post-conflict situations is a challenge in our societies. With this in mind, we focus the present study on the rationality of cooperative decision making after an intergroup conflict, i.e., the extent to which groups take advantage of post-conflict situations to obtain benefits from collaborating with the other group involved in the conflict. Based on dual-process theories of thinking and affect heuristic, we propose that intergroup conflict hinders the rationality of cooperative decision making. We also hypothesize that this rationality improves when groups are involved in an in-group deliberative discussion. Results of a laboratory experiment support the idea that intergroup conflict –associated with indicators of the activation of negative feelings (negative affect state and heart rate)– has a negative effect on the aforementioned rationality over time and on both group and individual decision making. Although intergroup conflict leads to sub-optimal decision making, rationality improves when groups and individuals subjected to intergroup conflict make decisions after an in-group deliberative discussion. Additionally, the increased rationality of the group decision making after the deliberative discussion is transferred to subsequent individual decision making. PMID:25461384

  8. Intergroup conflict and rational decision making.

    PubMed

    Martínez-Tur, Vicente; Peñarroja, Vicente; Serrano, Miguel A; Hidalgo, Vanesa; Moliner, Carolina; Salvador, Alicia; Alacreu-Crespo, Adrián; Gracia, Esther; Molina, Agustín

    2014-01-01

    The literature has been relatively silent about post-conflict processes. However, understanding the way humans deal with post-conflict situations is a challenge in our societies. With this in mind, we focus the present study on the rationality of cooperative decision making after an intergroup conflict, i.e., the extent to which groups take advantage of post-conflict situations to obtain benefits from collaborating with the other group involved in the conflict. Based on dual-process theories of thinking and affect heuristic, we propose that intergroup conflict hinders the rationality of cooperative decision making. We also hypothesize that this rationality improves when groups are involved in an in-group deliberative discussion. Results of a laboratory experiment support the idea that intergroup conflict -associated with indicators of the activation of negative feelings (negative affect state and heart rate)- has a negative effect on the aforementioned rationality over time and on both group and individual decision making. Although intergroup conflict leads to sub-optimal decision making, rationality improves when groups and individuals subjected to intergroup conflict make decisions after an in-group deliberative discussion. Additionally, the increased rationality of the group decision making after the deliberative discussion is transferred to subsequent individual decision making.

  9. Assessment of stigma associated with tuberculosis in Mexico.

    PubMed

    Moya, E M; Biswas, A; Chávez Baray, S M; Martínez, O; Lomeli, B

    2014-12-21

    Stigma is a major barrier to health care access and impacts the quality of life for individuals affected by tuberculosis (TB). Assessing TB stigma is essential to addressing health disparities. However, no such instrument was available in Mexico at the time of our study. This study examined the adaptability of the TB and human immunodeficiency virus (HIV) stigma scales previously used in Thailand. The original scale, developed in English, was linguistically adapted to Spanish and administered to 217 individuals affected by TB in five states in Mexico. The TB-HIV stigma subscales were designed to assess individual and community perspectives. Additional data collected included general information and socio-demographics. Assessment of psychometric properties included basic statistical tests, evaluation of Cronbach's alpha and factor analysis. We found no significant statistical differences associated with higher stigma scores by location, age, marital status, education and stigma scores. Factor analysis did not create any new factors. Internal consistency reliability coefficients were satisfactory (Cronbach α = 0.876-0.912). The use of the stigma scales has implications for 1) health improvements, 2) research on stigma and health disparities, and 3) TB and HIV stigma interventions. Further research is needed to examine transferability among larger and randomly selected Spanish-speaking populations.

  10. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

    PubMed

    Thompson, Paul M; Stein, Jason L; Medland, Sarah E; Hibar, Derrek P; Vasquez, Alejandro Arias; Renteria, Miguel E; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J; Martin, Nicholas G; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C; Andreassen, Ole A; Apostolova, Liana G; Appel, Katja; Armstrong, Nicola J; Aribisala, Benjamin; Bastin, Mark E; Bauer, Michael; Bearden, Carrie E; Bergmann, Orjan; Binder, Elisabeth B; Blangero, John; Bockholt, Henry J; Bøen, Erlend; Bois, Catherine; Boomsma, Dorret I; Booth, Tom; Bowman, Ian J; Bralten, Janita; Brouwer, Rachel M; Brunner, Han G; Brohawn, David G; Buckner, Randy L; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R; Calhoun, Vince D; Cannon, Dara M; Cantor, Rita M; Carless, Melanie A; Caseras, Xavier; Cavalleri, Gianpiero L; Chakravarty, M Mallar; Chang, Kiki D; Ching, Christopher R K; Christoforou, Andrea; Cichon, Sven; Clark, Vincent P; Conrod, Patricia; Coppola, Giovanni; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Deary, Ian J; de Geus, Eco J C; den Braber, Anouk; Delvecchio, Giuseppe; Depondt, Chantal; de Haan, Lieuwe; de Zubicaray, Greig I; Dima, Danai; Dimitrova, Rali; Djurovic, Srdjan; Dong, Hongwei; Donohoe, Gary; Duggirala, Ravindranath; Dyer, Thomas D; Ehrlich, Stefan; Ekman, Carl Johan; Elvsåshagen, Torbjørn; Emsell, Louise; Erk, Susanne; Espeseth, Thomas; Fagerness, Jesen; Fears, Scott; Fedko, Iryna; Fernández, Guillén; Fisher, Simon E; Foroud, Tatiana; Fox, Peter T; Francks, Clyde; Frangou, Sophia; Frey, Eva Maria; Frodl, Thomas; Frouin, Vincent; Garavan, Hugh; Giddaluru, Sudheer; Glahn, David C; Godlewska, Beata; Goldstein, Rita Z; Gollub, Randy L; Grabe, Hans J; Grimm, Oliver; Gruber, Oliver; Guadalupe, Tulio; Gur, Raquel E; Gur, Ruben C; Göring, Harald H H; Hagenaars, Saskia; Hajek, Tomas; Hall, Geoffrey B; Hall, Jeremy; Hardy, John; Hartman, Catharina A; Hass, Johanna; Hatton, Sean N; Haukvik, Unn K; Hegenscheid, Katrin; Heinz, Andreas; Hickie, Ian B; Ho, Beng-Choon; Hoehn, David; Hoekstra, Pieter J; Hollinshead, Marisa; Holmes, Avram J; Homuth, Georg; Hoogman, Martine; Hong, L Elliot; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Hwang, Kristy S; Jack, Clifford R; Jenkinson, Mark; Johnston, Caroline; Jönsson, Erik G; Kahn, René S; Kasperaviciute, Dalia; Kelly, Sinead; Kim, Sungeun; Kochunov, Peter; Koenders, Laura; Krämer, Bernd; Kwok, John B J; Lagopoulos, Jim; Laje, Gonzalo; Landen, Mikael; Landman, Bennett A; Lauriello, John; Lawrie, Stephen M; Lee, Phil H; Le Hellard, Stephanie; Lemaître, Herve; Leonardo, Cassandra D; Li, Chiang-Shan; Liberg, Benny; Liewald, David C; Liu, Xinmin; Lopez, Lorna M; Loth, Eva; Lourdusamy, Anbarasu; Luciano, Michelle; Macciardi, Fabio; Machielsen, Marise W J; Macqueen, Glenda M; Malt, Ulrik F; Mandl, René; Manoach, Dara S; Martinot, Jean-Luc; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mattingsdal, Morten; Meyer-Lindenberg, Andreas; McDonald, Colm; McIntosh, Andrew M; McMahon, Francis J; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Milaneschi, Yuri; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Moses, Eric K; Mueller, Bryon A; Muñoz Maniega, Susana; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Mwangi, Benson; Nauck, Matthias; Nho, Kwangsik; Nichols, Thomas E; Nilsson, Lars-Göran; Nugent, Allison C; Nyberg, Lars; Olvera, Rene L; Oosterlaan, Jaap; Ophoff, Roel A; Pandolfo, Massimo; Papalampropoulou-Tsiridou, Melina; Papmeyer, Martina; Paus, Tomas; Pausova, Zdenka; Pearlson, Godfrey D; Penninx, Brenda W; Peterson, Charles P; Pfennig, Andrea; Phillips, Mary; Pike, G Bruce; Poline, Jean-Baptiste; Potkin, Steven G; Pütz, Benno; Ramasamy, Adaikalavan; Rasmussen, Jerod; Rietschel, Marcella; Rijpkema, Mark; Risacher, Shannon L; Roffman, Joshua L; Roiz-Santiañez, Roberto; Romanczuk-Seiferth, Nina; Rose, Emma J; Royle, Natalie A; Rujescu, Dan; Ryten, Mina; Sachdev, Perminder S; Salami, Alireza; Satterthwaite, Theodore D; Savitz, Jonathan; Saykin, Andrew J; Scanlon, Cathy; Schmaal, Lianne; Schnack, Hugo G; Schork, Andrew J; Schulz, S Charles; Schür, Remmelt; Seidman, Larry; Shen, Li; Shoemaker, Jody M; Simmons, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soares, Jair C; Sponheim, Scott R; Sprooten, Emma; Starr, John M; Steen, Vidar M; Strakowski, Stephen; Strike, Lachlan; Sussmann, Jessika; Sämann, Philipp G; Teumer, Alexander; Toga, Arthur W; Tordesillas-Gutierrez, Diana; Trabzuni, Daniah; Trost, Sarah; Turner, Jessica; Van den Heuvel, Martijn; van der Wee, Nic J; van Eijk, Kristel; van Erp, Theo G M; van Haren, Neeltje E M; van 't Ent, Dennis; van Tol, Marie-Jose; Valdés Hernández, Maria C; Veltman, Dick J; Versace, Amelia; Völzke, Henry; Walker, Robert; Walter, Henrik; Wang, Lei; Wardlaw, Joanna M; Weale, Michael E; Weiner, Michael W; Wen, Wei; Westlye, Lars T; Whalley, Heather C; Whelan, Christopher D; White, Tonya; Winkler, Anderson M; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Zilles, David; Zwiers, Marcel P; Thalamuthu, Anbupalam; Schofield, Peter R; Freimer, Nelson B; Lawrence, Natalia S; Drevets, Wayne

    2014-06-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

  11. A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

    PubMed

    Tian, Qi; Li, Yunping; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying; Pan, Qian

    2017-01-07

    Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype. Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein. The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

  12. Great apes are sensitive to prior reliability of an informant in a gaze following task.

    PubMed

    Schmid, Benjamin; Karg, Katja; Perner, Josef; Tomasello, Michael

    2017-01-01

    Social animals frequently rely on information from other individuals. This can be costly in case the other individual is mistaken or even deceptive. Human infants below 4 years of age show proficiency in their reliance on differently reliable informants. They can infer the reliability of an informant from few interactions and use that assessment in later interactions with the same informant in a different context. To explore whether great apes share that ability, in our study we confronted great apes with a reliable or unreliable informant in an object choice task, to see whether that would in a subsequent task affect their gaze following behaviour in response to the same informant. In our study, prior reliability of the informant and habituation during the gaze following task affected both great apes' automatic gaze following response and their more deliberate response of gaze following behind barriers. As habituation is very context specific, it is unlikely that habituation in the reliability task affected the gaze following task. Rather it seems that apes employ a reliability tracking strategy that results in a general avoidance of additional information from an unreliable informant.

  13. A dynamic evolution model of human opinion as affected by advertising

    NASA Astrophysics Data System (ADS)

    Luo, Gui-Xun; Liu, Yun; Zeng, Qing-An; Diao, Su-Meng; Xiong, Fei

    2014-11-01

    We propose a new model to investigate the dynamics of human opinion as affected by advertising, based on the main idea of the CODA model and taking into account two practical factors: one is that the marginal influence of an additional friend will decrease with an increasing number of friends; the other is the decline of memory over time. Simulations show several significant conclusions for both advertising agencies and the general public. A small difference of advertising’s influence on individuals or advertising coverage will result in significantly different advertising effectiveness within a certain interval of value. Compared to the value of advertising’s influence on individuals, the advertising coverage plays a more important role due to the exponential decay of memory. Meanwhile, some of the obtained results are in accordance with people’s daily cognition about advertising. The real key factor in determining the success of advertising is the intensity of exchanging opinions, and people’s external actions always follow their internal opinions. Negative opinions also play an important role.

  14. Affective disturbance in rheumatoid arthritis: psychological and disease-related pathways

    PubMed Central

    Sturgeon, John A.; Finan, Patrick H.; Zautra, Alex J.

    2017-01-01

    In addition to recurrent pain, fatigue, and increased rates of physical disability, individuals with rheumatoid arthritis (RA) show an increased prevalence of some mental health disorders, particularly those involving mood disturbances. This narrative Review provides an overview of mental health comorbidities in RA, and discusses how these comorbidities interact with disease processes, including dysregulation of inflammatory responses, prolonged difficulties with pain and fatigue, and the development of cognitive and behavioural responses that could exacerbate the physical and psychological difficulties associated with RA. This article describes how the social context of individuals with RA affects both their coping strategies and psychological responses to the disease, and can also impair responses to treatment through disruption of therapeutic alliance and treatment adherence. Evidence from the literature on chronic pain suggests that the resulting alterations in neural pathways of reward processing could yield new insights into the connections between disease processes in RA and psychological distress. Finally, the role of psychological interventions in the effective and comprehensive treatment of RA is discussed. PMID:27411910

  15. [The adolescent with a chronic somatic disorder].

    PubMed

    Bettschart, W

    1992-01-25

    Adolescence, a period of psychic reorganization which allows for new adjustments in order to face future life and reorganize the experience of the past, is one of the critical phases of existence. It is described as a "new birth", a successful achievement of individuation and separation processes. For the adolescent with an infirmity or chronic illness, and for his family, there exist specific problems in addition to those encountered by a healthy adolescent. The painful realization of social, professional and relational barriers is reactivated. The feeling of failure and helplessness, the impairment of self-esteem, and anger at being the victim of the unfairness of destiny, represent a supplementary affective burden for the adolescent and his family. This results in a risk of deterioration, either towards affective and social withdrawal expressed by overadaptation and weakening of psychic functions, or towards autoaggressive acting-out or various forms of marginalization. Preventive and therapeutic action by the individual and the family are discussed in the light of the case history of an adolescent suffering from a facial malformation.

  16. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

    PubMed Central

    Seri, M; Cusano, R; Forabosco, P; Cinti, R; Caroli, F; Picco, P; Bini, R; Morra, V B; De Michele, G; Lerone, M; Silengo, M; Pela, I; Borrone, C; Romeo, G; Devoto, M

    1999-01-01

    We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition. PMID:9973297

  17. Effect of Fixatives and Tissue Processing on the Content and Integrity of Nucleic Acids

    PubMed Central

    Srinivasan, Mythily; Sedmak, Daniel; Jewell, Scott

    2002-01-01

    Clinical and molecular medicines are undergoing a revolution based on the accelerated advances in biotechnology such as DNA microarrays and proteomics. Answers to fundamental questions such as how does the DNA sequence differ between individuals and what makes one individual more prone for a certain disease are eagerly being sought in this postgenomic era. Several government and nonprofit organizations provide the researchers access to human tissues for molecular studies. The tissues procured by the different organizations may differ with respect to fixation and processing parameters that may affect significantly the molecular profile of the tissues. It is imperative that a prospective investigator be aware of the potential contributing factors before designing a project. The purpose of this review is to provide an overview of the methods of human tissue acquisition, fixation, and preservation. In addition, the parameters of procurement and fixation that affect the quality of the tissues at the molecular level are discussed. PMID:12466110

  18. A Preliminary Investigation of Worry Content in Sexual Minorities

    PubMed Central

    Weiss, Brandon J.; Hope, Debra A.

    2011-01-01

    This preliminary study examined the nature of worry content of lesbians, gay men, and bisexual individuals and the relationship between worry related to sexual orientation and mental health. A community sample of 54 individuals identifying as sexual minorities was recruited from two cities in the Great Plains to complete a packet of questionnaires, including a modified Worry Domains Questionnaire (WDQ; Tallis, Eyseck, & Mathews, 1992) with additional items constructed to assess worry over discrimination related to sexual orientation, and participate in a worry induction and verbalization task. The content of self-reported worries was consistent with those reported in prior investigations of worry content, and worry related to sexual orientation was not found to be elevated compared to other topics. However, degree of worry related to sexual orientation was significantly associated with increased negative affect, depressive symptoms, and internalized homophobia and decreased quality of life and positive affect. Implications of these findings, limitations, and future research issues are discussed. PMID:21041061

  19. Disease aftershocks - The health effects of natural disasters

    USGS Publications Warehouse

    Guptill, S.C.

    2001-01-01

    While the initial activity of a natural disaster event may directly injure or kill a number of people, it is possible that a significant number of individuals will be affected by disease outbreaks that occur after the first effects of the disaster have passed. Coupling the epidemiologist's knowledge of disease outbreaks with geographic information systems and remote sensing technology could help natural disaster relief workers to prevent additional victims from disease aftershocks.

  20. A Community of Interests: NATO and the Military Assistance Program, 1948 - 1951,

    DTIC Science & Technology

    1980-01-01

    the fiscal year 1950, estimating its cost to the United States and indicating its logistic implications. Military assistance for Greece, Turkey, Iran...could maintain during fiscal year 1949 without affecting the economies of the individual countries concerned. This chiefly required meeting deficiencies...additional funds during the fiscal year.85 The JCS expressed concern about the effect of the MAP upon U.S. military preparedness. Even after an intensive

  1. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*

    PubMed Central

    LEGGETT, VICTORIA; JACOBS, PATRICIA; NATION, KATE; SCERIF, GAIA; BISHOP, DOROTHY V M

    2010-01-01

    Aim To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Method A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. Results We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation. Interpretation Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples. PMID:20059514

  2. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review.

    PubMed

    Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V M

    2010-02-01

    To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. We identified 35 articles on five neonatally identified samples that had adequate power for our review. An additional 11 studies were included where cases had been identified for reasons other than neurodevelopmental concerns. Individuals with an additional X chromosome had mean IQs that were within broadly normal limits but lower than the respective comparison groups, with verbal IQ most affected. Cognitive outcomes were poorest for females with XXX. Males with XYY had normal-range IQs, but all three SCT groups (XXX, XXY, and XYY) had marked difficulties in speech and language, motor skills, and educational achievement. Nevertheless, most adults with SCTs lived independently. Less evidence was available for brain structure and for attention, social, and psychiatric outcomes. Within each group there was much variation. Individuals with SCTs are at risk of cognitive and behavioural difficulties. However, the evidence base is slender, and further research is needed to ascertain the nature, severity, and causes of these difficulties in unselected samples.

  3. LONGITUDINAL FOLLOW-UP OF LATE-ONSET ALZHEIMER DISEASE FAMILIES

    PubMed Central

    Carney, R.M.; Slifer, M.A.; Lin, P.I.; Gaskell, P. C.; Scott, W. K.; Potocky, C.F.; Hulette, C. M.; Welsh-Bohmer, K. A.; Schmechel, D. E.; Vance, J.M.; Pericak-Vance, M. A.

    2009-01-01

    Historically, data for genetic studies are collected at one time point. However, for diseases with late onset or with complex phenotypes, such as Alzheimer disease (AD), restricting diagnosis to a single ascertainment contact may not be sufficient. Affection status may change over time, and some initial diagnoses may be inconclusive. Follow-up provides the opportunity to resolve these complications. However, to date, previous studies have not formally demonstrated that longitudinally re-contacting families is practical or productive. To update data initially collected for linkage analysis of late-onset Alzheimer disease (LOAD), we successfully re-contacted 63 of 81 (78%) multiplex families (two to 17 years after ascertainment). Clinical status changed for 73 of the 230 (32%) non-affected participants. Additionally, expanded family history identified 20 additional affected individuals to supplement the data set. Furthermore, fostering ongoing relationships with participating families helped recruit 101 affected participants into an autopsy and tissue donation program. Despite similar presentations, discordance between clinical diagnosis and neuropathologic diagnosis was observed in 28% of those with tissue diagnoses. Most of the families were successfully re-contacted, and significant refinement and supplementation of the data was achieved. We concluded that serial contact with longitudinal evaluation of families has significant implications for genetic analyses. PMID:18361431

  4. The Socio-Moral Image Database (SMID): A novel stimulus set for the study of social, moral and affective processes

    PubMed Central

    Bode, Stefan; Murawski, Carsten; Laham, Simon M.

    2018-01-01

    A major obstacle for the design of rigorous, reproducible studies in moral psychology is the lack of suitable stimulus sets. Here, we present the Socio-Moral Image Database (SMID), the largest standardized moral stimulus set assembled to date, containing 2,941 freely available photographic images, representing a wide range of morally (and affectively) positive, negative and neutral content. The SMID was validated with over 820,525 individual judgments from 2,716 participants, with normative ratings currently available for all images on affective valence and arousal, moral wrongness, and relevance to each of the five moral values posited by Moral Foundations Theory. We present a thorough analysis of the SMID regarding (1) inter-rater consensus, (2) rating precision, and (3) breadth and variability of moral content. Additionally, we provide recommendations for use aimed at efficient study design and reproducibility, and outline planned extensions to the database. We anticipate that the SMID will serve as a useful resource for psychological, neuroscientific and computational (e.g., natural language processing or computer vision) investigations of social, moral and affective processes. The SMID images, along with associated normative data and additional resources are available at https://osf.io/2rqad/. PMID:29364985

  5. You are what you eat.

    PubMed

    Lewis, Zenobia; Heys, Chloe; Prescott, Mark; Lizé, Anne

    2014-07-01

    Gut bacteria is now considered as an additional host organ, and it has been shown that they have important influences on host developmental and physiological processes. More recently gut bacteria have additionally been implicated in behavioral processes. We showed that in two species of Drosophila, gut bacteria variation affects behavior, altering partner investment in copulation in relation to whether individuals were familiar (i.e., having developed in the same environment), or were related. This suggests that gut bacteria play a role in kin recognition in these species. We suggest that this phenomenon is associated with gut bacteria influencing the scent profiles used by Drosophila in mate choice.

  6. Strategies for maximizing clinical effectiveness in the treatment of schizophrenia.

    PubMed

    Tandon, Rajiv; Targum, Steven D; Nasrallah, Henry A; Ross, Ruth

    2006-11-01

    The ultimate clinical objective in the treatment of schizophrenia is to enable affected individuals to lead maximally productive and personally meaningful lives. As with other chronic diseases that lack a definitive cure, the individual's service/recovery plan must include treatment interventions directed towards decreasing manifestations of the illness, rehabilitative services directed towards enhancing adaptive skills, and social support mobilization aimed at optimizing function and quality of life. In this review, we provide a conceptual framework for considering approaches for maximizing the effectiveness of the array of treatments and other services towards promoting recovery of persons with schizophrenia. We discuss pharmacological, psychological, and social strategies that decrease the burden of the disease of schizophrenia on affected individuals and their families while adding the least possible burden of treatment. In view of the multitude of treatments necessary to optimize outcomes for individuals with schizophrenia, effective coordination of these services is essential. In addition to providing best possible clinical assessment and pharmacological treatment, the psychiatrist must function as an effective leader of the treatment team. To do so, however, the psychiatrist must be knowledgeable about the range of available services, must have skills in clinical-administrative leadership, and must accept the responsibility of coordinating the planning and delivery of this multidimensional array of treatments and services. Finally, the effectiveness of providing optimal individualized treatment/rehabilitation is best gauged by measuring progress on multiple effectiveness domains. Approaches for efficient and reliable assessment are discussed.

  7. Factors affecting Mental Health Nurses working with Clients with First Episode Psychosis: A qualitative study.

    PubMed

    Odeyemi, Constance; Morrissey, Jean; Donohue, Gráinne

    2018-06-27

    Although there is much research on mental health nurses working with individuals presenting with psychosis, there is a lack of knowledge about the factors that impact the experience of nurses in the presentation specifically of first time psychosis. This study aims to explore the factors that impact on the experience of mental health nurses working with individuals and their families who present with a first time psychosis. This qualitative study was conducted through individual semi-structured interviews with eight mental health nurses recruited from community mental health settings with a minimum of two years post qualification experience. Data was then subjected to a thematic content analysis. This study identified the importance of therapeutic engagement, as well as the need to have clear pathways to care and building capacity through clinical supervision and training when working with this population. Mental Health nurses should engage with additional training, formalized clinical supervision and avail of peer support in order to improve confidence, skills and quality of care, leading to better therapeutic engagement. Pathways to care should be embedded within the wider community to ensure ease of access for individual and their families. There should be more recognition of the social impact on the individual during untreated psychosis with regards to isolation and withdrawal as well as factors which also affect help-seeking behaviours. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  8. Narrative Centrality and Negative Affectivity: Independent and Interactive Contributors to Stress Reactions

    PubMed Central

    Rubin, David C.; Boals, Adriel; Hoyle, Rick H.

    2014-01-01

    Reactions to stressful negative events have long been studied using approaches based on either the narrative interpretation of the event or the traits of the individual. Here, we integrate these two approaches by using individual differences measures of both the narrative interpretation of the stressful event as central to one’s life and the personality characteristic of negative affectivity. We show that they each have independent contributions to stress reactions, and that high levels on both produce greater than additive effects. The effects on posttraumatic stress symptoms are substantial for both undergraduates (Study 1, n = 2,296; Study 3, n = 488) and veterans (Study 2, n = 104), with mean levels for participants low on both measures near floor on posttraumatic stress symptoms and those high on both measures scoring at or above diagnostic thresholds. Study 3 included three measures of narrative centrality and three of negative affectivity to demonstrate that the effects were not limited to a single measure. In Study 4 (n = 987), measures associated with symptoms of posttraumatic stress correlated substantially with either with measures of narrative centrality or measures of negative affectivity. The concepts of narrative centrality and negative affectivity and the results are consistent with findings from clinical populations using similar measures and with current approaches to therapy. In broad non-clinical populations, such as those used here, the results suggest that we might be able to substantially increase our ability to account for the severity of stress response by including both concepts. PMID:24294867

  9. Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

    PubMed Central

    Borsatto, Taciane; Sperb-Ludwig, Fernanda; Lima, Samyra E.; S. Carvalho, Maria R.; S. Fonseca, Pablo A.; S. Camelo, José; M. Ribeiro, Erlane; F. V. de Medeiros, Paula; M. Lourenço, Charles; F. M. de Souza, Carolina; Boy, Raquel; Félix, Têmis M.; M. Bittar, Camila; L. C. Pinto, Louise; C. Neto, Eurico; J. Blom, Henk; D. Schwartz, Ida V.

    2017-01-01

    Introduction The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. Methods All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed. Results Most individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients. Conclusions The variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity. PMID:28498829

  10. Questions of time and affect: a person’s affectivity profile, time perspective, and well-being

    PubMed Central

    Sailer, Uta; Nima, Ali Al; Archer, Trevor

    2016-01-01

    Background. A “balanced” time perspective has been suggested to have a positive influence on well-being: a sentimental and positive view of the past (high Past Positive), a less pessimistic attitude toward the past (low Past Negative), the desire of experiencing pleasure with slight concern for future consequences (high Present Hedonistic), a less fatalistic and hopeless view of the future (low Present Fatalistic), and the ability to find reward in achieving specific long-term goals (high Future). We used the affective profiles model (i.e., combinations of individuals’ experience of high/low positive/negative affectivity) to investigate differences between individuals in time perspective dimensions and to investigate if the influence of time perspective dimensions on well-being was moderated by the individual’s type of profile. Method. Participants (N = 720) answered to the Positive Affect Negative Affect Schedule, the Zimbardo Time Perspective Inventory and two measures of well-being: the Temporal Satisfaction with Life Scale and Ryff’s Scales of Psychological Well-Being-short version. A Multivariate Analysis of Variance (MANOVA) was conducted to identify differences in time perspective dimensions and well-being among individuals with distinct affective profiles. Four structural equation models (SEM) were used to investigate which time perspective dimensions predicted well-being for individuals in each profile. Results. Comparisons between individuals at the extreme of the affective profiles model suggested that individuals with a self-fulfilling profile (high positive/low negative affect) were characterized by a “balanced” time perspective and higher well-being compared to individuals with a self-destructive profile (low positive/high negative affect). However, a different pattern emerged when individuals who differed in one affect dimension but matched in the other were compared to each other. For instance, decreases in the past negative time perspective dimension lead to high positive affect when negative affect is high (i.e., self-destructive vs. high affective) but to low negative affect when positive affect was high (i.e., high affective vs. self-fulfilling). The moderation analyses showed, for example, that for individuals with a self-destructive profile, psychological well-being was significantly predicted by the past negative, present fatalistic and future time perspectives. Among individuals with a high affective or a self-fulfilling profile, psychological well-being was significantly predicted by the present fatalistic dimension. Conclusions. The interactions found here go beyond the postulation of a “balanced” time perspective being the only way to promote well-being. Instead, we present a more person-centered approach to achieve higher levels of emotional, cognitive, and psychological well-being. PMID:27019786

  11. Management of Ciguatoxin Risk in Eastern Australia

    PubMed Central

    Farrell, Hazel; Murray, Shauna A.; Zammit, Anthony; Edwards, Alan W.

    2017-01-01

    Between 2014 and 2016, five cases of ciguatera fish poisoning (CFP), involving twenty four individuals, were linked to Spanish Mackerel (Scomberomorus commerson) caught in the coastal waters of the state of New South Wales (NSW) on the east coast of Australia. Previously, documented cases of CFP in NSW were few, and primarily linked to fish imported from other regions. Since 2015, thirteen individuals were affected across four additional CFP cases in NSW, linked to fish imported from tropical locations. The apparent increase in CFP in NSW from locally sourced catch, combined with the risk of CFP from imported fish, has highlighted several considerations that should be incorporated into risk management strategies to minimize CFP exposure for seafood consumers. PMID:29135913

  12. Examining a transdiagnostic measure of repetitive thinking in depressed, formerly depressed and never-depressed individuals.

    PubMed

    Samtani, Suraj; McEvoy, Peter M; Mahoney, Alison E J; Werner-Seidler, Aliza; Li, Susan S Y; McGill, Brittany C; Tockar, Julia; Moulds, Michelle L

    2018-03-15

    Evidence that repetitive negative thinking (RNT) is a shared feature of a number of disorders has prompted the need for transdiagnostic self-report instruments; that is, measures of RNT that can be administered to individuals irrespective of their diagnosis. The Repetitive Thinking Questionnaire (RTQ; McEvoy et al., 2010) was developed to meet this need, and its psychometric properties and capacity to predict psychopathology have been tested in undergraduate and clinically anxious samples. We administered the RTQ to currently depressed (n = 29), formerly depressed (n = 61) and never-depressed (n = 93) community participants. The RTQ demonstrated good psychometric properties, with excellent internal consistency for the RNT subscale (α=.93) and good convergent validity with measures of negative affect and psychopathology symptoms (rs= .47-.61). In addition, and in accord with our predictions, currently depressed and recovered depressed participants reported more RNT than never-depressed participants, but currently and recovered depressed participants did not differ. In addition, RNT scores explained additional variance in depression and anxiety symptoms, after controlling for gender, age, neuroticism, state negative affect, and intolerance of uncertainty. Our sample was drawn from the community but participants were not treatment-seeking, and we employed a cross-sectional design. Taken together with previous experimental and longitudinal studies, our results support the utility of addressing RNT in the treatment and prevention of relapse in depression. Moreover, these data confirm the utility of the RTQ as a brief, transdiagnostic self-report measure of RNT. Copyright © 2018 Elsevier B.V. All rights reserved.

  13. Increased default mode network activity in socially anxious individuals during reward processing

    PubMed Central

    2014-01-01

    Background Social anxiety has been associated with potentiated negative affect and, more recently, with diminished positive affect. It is unclear how these alterations in negative and positive affect are represented neurally in socially anxious individuals and, further, whether they generalize to non-social stimuli. To explore this, we used a monetary incentive paradigm to explore the association between social anxiety and both the anticipation and consumption of non-social incentives. Eighty-four individuals from a longitudinal community sample underwent functional magnetic resonance imaging (fMRI) while participating in a monetary incentive delay (MID) task. The MID task consisted of alternating cues indicating the potential to win or prevent losing varying amounts of money based on the speed of the participant’s response. We examined whether self-reported levels of social anxiety, averaged across approximately 7 years of data, moderated brain activity when contrasting gain or loss cues with neutral cues during the anticipation and outcome phases of incentive processing. Whole brain analyses and analyses restricted to the ventral striatum for the anticipation phase and the medial prefrontal cortex for the outcome phase were conducted. Results Social anxiety did not associate with differences in hit rates or reaction times when responding to cues. Further, socially anxious individuals did not exhibit decreased ventral striatum activity during anticipation of gains or decreased MPFC activity during the outcome of gain trials, contrary to expectations based on literature indicating blunted positive affect in social anxiety. Instead, social anxiety showed positive associations with extensive regions implicated in default mode network activity (for example, precuneus, posterior cingulate cortex, and parietal lobe) during anticipation and receipt of monetary gain. Social anxiety was further linked with decreased activity in the ventral striatum during anticipation of monetary loss. Conclusions Socially anxious individuals may increase default mode network activity during reward processing, suggesting high self-focused attention even in relation to potentially rewarding stimuli lacking explicit social connotations. Additionally, social anxiety may relate to decreased ventral striatum reactivity when anticipating potential losses. PMID:25075275

  14. [Usefulness of the comprehensive geriatric assessment for evaluating the health of older adults].

    PubMed

    Gálvez-Cano, Miguel; Chávez-Jimeno, Helver; Aliaga-Diaz, Elizabeth

    2016-06-01

    Older adults comprise a heterogeneous population group that usually has a high disease burden, comorbidities, and, in many cases, subclinical conditions that compromise their health and quality of life. In addition to the physical component, the health conditions of elderly individuals are significantly influenced by cognitive and affective components, social and family factors such as abandonment, and functional factors including the ability to perform everyday activities. In response to this complex scenario, the comprehensive geriatric evaluation constitutes a multidimensional and interdisciplinary diagnostic tool that assesses the health of older adults in all of its complexity by considering the physical, mental, social/family, and functional needs to obtain full knowledge of older person's health status and creating a plan that consists of appropriate and individualized interventions that considers the preferences and values of older individuals and their families.

  15. LGB identity among young Chinese: the influence of traditional culture.

    PubMed

    Hu, Xiaowen; Wang, Ying

    2013-01-01

    Based on the social construction perspective, this research aims to investigate how traditional cultural values may affect the way individuals interpret and negotiate with their minority sexual identity. Using an online survey questionnaire with a student sample of 149 Chinese lesbian, gay, and bisexual (LGB) individuals, 2 elements of traditional Chinese culture were found to be associated with negative LGB identity among Chinese LGB students-namely, perceived parental attitudes toward marriage and participants' endorsements of filial piety values. In addition, the endorsement of filial piety moderated the relation between perceived parental attitudes toward marriage and LGB identity, such that the effect of parental attitude on LGB identity was only present among LGBs of high filial piety. This study suggests the importance of cultural values in shaping the way LGB individuals perceive their sexual identities.

  16. NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

    PubMed

    Gauthier, Julie; Bonnel, Anna; St-Onge, Judith; Karemera, Liliane; Laurent, Sandra; Mottron, Laurent; Fombonne, Eric; Joober, Ridha; Rouleau, Guy A

    2005-01-05

    Jamain [2003: Nat Genet 34:27-29] recently reported mutations in two neuroligin genes in sib-pairs affected with autism. In order to confirm these causative mutations in our autistic population and to determine their frequency we screened 96 individuals affected with autism. We found no mutations in these X-linked genes. These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism. Copyright 2004 Wiley-Liss, Inc.

  17. Learning problems, delayed development, and puberty

    PubMed Central

    Wright, Beverly A.; Zecker, Steven G.

    2004-01-01

    Language-based learning disorders such as dyslexia affect millions of people, but there is little agreement as to their cause. New evidence from behavioral measures of the ability to hear tones in the presence of background noise indicates that the brains of affected individuals develop more slowly than those of their unaffected counterparts. In addition, it seems that brain changes occurring at ≈10 years of age, presumably associated with puberty, may prematurely halt this slower-than-normal development when improvements would normally continue into adolescence. The combination of these ideas can account for a wide range of previous results, suggesting that delayed brain development, and its interaction with puberty, may be key factors contributing to learning problems. PMID:15210987

  18. Pharmacogenomics of antimicrobial agents

    PubMed Central

    Aung, Ar Kar; Haas, David W; Hulgan, Todd; Phillips, Elizabeth J

    2015-01-01

    Antimicrobial efficacy and toxicity varies between individuals owing to multiple factors. Genetic variants that affect drug-metabolizing enzymes may influence antimicrobial pharmacokinetics and pharmacodynamics, thereby determining efficacy and/or toxicity. In addition, many severe immune-mediated reactions have been associated with HLA class I and class II genes. In the last two decades, understanding of pharmacogenomic factors that influence antimicrobial efficacy and toxicity has rapidly evolved, leading to translational success such as the routine use of HLA-B*57:01 screening to prevent abacavir hypersensitivity reactions. This article examines recent advances in the field of antimicrobial pharmacogenomics that potentially affect treatment efficacy and toxicity, and challenges that exist between pharmacogenomic discovery and translation into clinical use. PMID:25495412

  19. Physician Wellness Is an Ethical and Public Health Issue.

    PubMed

    Walker, Rosandra; Pine, Harold

    2018-06-01

    Attention to physician well-being has traditionally focused on substance abuse, usually with disciplinary implications. But, in recent years, greater notice has been granted toward physician burnout and overall wellness. Burnout and its sequelae not only affect physicians and physicians-in-training as individuals, but the impact then multiplies as it affects these physicians' patients, colleagues, and hospital systems. In addition, the American Medical Association Code of Medical Ethics charges physicians with a responsibility to maintain their own health and wellness as well as promote that of their colleagues. Therefore, the question of physician wellness has both public health and ethical implications. The causes of burnout are multifactorial, and the solutions to sustainable change are multitiered.

  20. Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs.

    PubMed

    Goncalves, Luis F; Berger, Julie A; Macknis, Jacqueline K; Bauer, Samuel T; Bloom, David A

    2017-01-01

    Grebe dysplasia is a rare skeletal dysplasia characterized by severe acromesomelic shortening of the long bones in a proximal to distal gradient of severity, with bones of the hands and feet more severely affected than those of the forearms and legs, which in turn are more severely affected than the humeri and femora. In addition, the bones of the lower extremities tend to be more severely affected than the bones of the upper extremities. Despite the severe skeletal deformities, the condition is not lethal and surviving individuals can have normal intelligence. Herein we report a case of Grebe dysplasia diagnosed at 20 weeks of gestation. Rendered 3-D ultrasound images of the fetal limbs, particularly of the characteristic tiny and globular-looking fingers and toes, were instrumental in accurately characterizing the phenotype prenatally.

  1. Promoting organ donation through an entertainment-education TV program in Korea: Open Your Eyes.

    PubMed

    Byoung Kwan Lee; Hyun Soon Park; Choi, Myung-Il; Cheon Soo Kim

    2010-01-01

    The purpose of this study is to investigate the effects of the characteristics of the program, Open Your Eyes, an entertainment-education TV program in Korea, on parasocial interaction and behavioral intention for organ donation. The results indicated that affective evaluation positively affected parasocial interaction with the program but cognitive evaluation negatively affected involvement with beneficiaries in the program. Also, it was found that cognitive evaluation of Open Your Eyes had a significant positive effect on behavioral intention. In addition, a significant positive effect of program engagement on the behavioral intention was found. Thus, the results indicate that individuals who feel program engagement of Open Your Eyes will be more likely to proceed with organ donation. However, no direct effect of involvement with the beneficiary and program hosts was found.

  2. Classroom norms of bullying alter the degree to which children defend in response to their affective empathy and power.

    PubMed

    Peets, Kätlin; Pöyhönen, Virpi; Juvonen, Jaana; Salmivalli, Christina

    2015-07-01

    This study examined whether the degree to which bullying is normative in the classroom would moderate associations between intra- (cognitive and affective empathy, self-efficacy beliefs) and interpersonal (popularity) factors and defending behavior. Participants were 6,708 third- to fifth-grade children (49% boys; Mage = 11 years) from 383 classrooms. Multilevel modeling analyses revealed that children were more likely to defend in response to their affective empathy in classrooms with high levels of bullying. In addition, popular students were more likely to support victims in classrooms where bullying was associated with social costs. These findings highlight the importance of considering interactions among individual and contextual influences when trying to understand which factors facilitate versus inhibit children's inclinations to defend others. (c) 2015 APA, all rights reserved).

  3. Association Between Borderline Personality Features and Temporal Summation of Second Pain: A Cross-Sectional Study.

    PubMed

    You, Dokyoung S; Meagher, Mary W

    2017-01-01

    Individuals with greater borderline personality features may be vulnerable to chronic pain. Because pain is an unpleasant sensory and emotional experience, affect dysregulation as the core personality feature may be linked to pain hypersensitivity. Studies have found that greater borderline features are associated with increased intensity in clinical and experimental pain, and that depression mediates this increase. The current study further examined the association between borderline features and heat pain sensitivity, the contribution of affect dysregulation and the other borderline personality factors (identity problems, negative relationships, self-harming/impulsivity) to the association, and depression as a mediator. Additionally, we examined whether blunted sympathetic responses mediate the association between borderline features and temporal summation of second pain (TSSP). Thermal pain threshold, thermal TSSP and aftersensations pain were assessed in 79 healthy individuals with varying degrees of borderline features. TSSP is a proxy measure for central sensitization and refers to the gradual increase in pain to repeated nociceptive stimuli. A regression analysis showed that greater borderline features predicted greater TSSP (β = .22, p = .050, R 2 = .05). Borderline features were unrelated to pain threshold and TSSP decay. A stepwise regression showed greater TSSP in individuals with greater borderline features was accounted for by the negative relationships factor rather than the affect dysregulation factor. The results of mediational analyses showed depression and blunted sympathetic skin conductance responses mediated the positive association between TSSP and borderline features.

  4. Stable isotopes identify dietary changes associated with beak deformities in Black-Capped Chickadees (Poecile atricapillus)

    USGS Publications Warehouse

    Van Hemert, Caroline; Handel, Colleen M.; O'Brien, Diane M.

    2012-01-01

    A large number of beak deformities of unknown etiology have recently been reported in Black-capped Chickadees (Poecile atricapillus) and other resident avian species in Alaska. We investigated the potential association between diet and beak deformities. We analyzed carbon (δ13C) and nitrogen (δ15N) isotopes in whole blood of Black-capped Chickadees captured at three semiurban sites in south-central Alaska. For dietary analysis, we included natural foods (arthropods, seeds, and berries) and anthropogenic items commonly provided in bird feeders (sunflower seeds, peanut butter, and suet). Blood samples from individuals with beak deformities exhibited lower δ15N values and more variable δ13C values than birds with normal beaks. Isotopic values of blood also differed by location for both carbon and nitrogen, but we did not detect a difference in natural dietary items across the three sites. Contributions of individual diet items differed between birds with and without beak deformities, a pattern that likely reflected reduced function of the beak. Affected birds generally consumed fewer arthropods and sunflower seeds and more peanut butter and natural seeds and berries. Although some individuals with beak deformities relied heavily on feeder foods, we did not find evidence of an anthropogenic food source shared by all affected birds. In addition, dietary differences were most pronounced for moderately to severely affected birds, which suggests that these differences are more likely to be a consequence than a cause of deformities.

  5. Learning speed is affected by personality and reproductive investment in a songbird.

    PubMed

    Rivera-Gutierrez, Hector Fabio; Martens, Tine; Pinxten, Rianne; Eens, Marcel

    2017-01-01

    Individuals from different taxa, including songbirds, differ consistently in behaviour and personality when facing different situations. Although our understanding of animal behaviour has increased, knowledge about between-individual differences in cognitive abilities is still limited. By using an experimental approach and a free-living songbird (Parus major) as a model, we attempted to understand between-individual differences in habituation to playbacks (as a proxy of learning speed), by investigating the role of personality, age and reproductive investment (clutch size). Pre-breeding males were tested for exploration (a proxy of personality) in standardized conditions. In addition, the same individuals were exposed to three playbacks in the field during incubation. Birds significantly moved less, stayed further away and overlapped less the playback with successive playback stimulation. While a decrease in the locomotor behaviour can be explained by personality, differences in habituation of overlapping were predicted by both reproductive investment and personality. Fast explorers habituated less. Moreover, males paired to females with larger clutches did not vary the intensity of overlapping. Since habituation requires information for recognition of non-threatening signals, personality may bias information gathering. While fast explorers may collect less information from the environment, slow explorers (reactive birds) seem to pay attention to environmental clues and collect detailed information. We provided evidence that the rate of habituation of behavioural responses, a proxy of cognitive abilities, may be affected by different factors and in a complex way.

  6. Functional ability loss in sensory impaired and sensory unimpaired very old adults: analyzing causal relations with positive affect across four years.

    PubMed

    Wahl, Hans-Werner; Drapaniotis, Philipp M; Heyl, Vera

    2014-11-01

    This paper focuses on the relationship between functional ability (FA) and positive affect (PA), a major component of well-being, in sensory impaired very old adults (SI) compared with sensory unimpaired individuals (UI). Previous research mostly suggests a robust causal impact of FA on PA. However, some research, drawing from Fredrickson's broaden-and-build theory, also points to the possibility of an inverse causality between FA and PA. We examine in this paper both of these causal directions in SI as well as UI individuals across a 4year observation period. Additionally, we checked for the role of negative affect (NA). The T1-T2 sample comprised 81 out of 237 SI individuals (visually or hearing impaired) assessed at T1, with a mean age at T1 of 81.8years, and 87 UI individuals out of 150 assessed at T1, with a mean age at T1 of 81.5years. Established scales were used to assess FA, PA, and NA. Using cross-lagged panel analysis to examine the direction of causality, our findings indicate that FA has significant impact on PA in both the SI and the UI group, whereas the alternative causal pathway was not confirmed. Both cross-lagged relationships between FA and NA were non-significant. No group differences in path strengths between SI and UI were present. Our study provides evidence that FA is a key competence for successful emotional aging in vulnerable groups of very old adults such as SI as well as in UI adults in advanced old age. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. Outcome in adolescence of brachial plexus birth palsy. 69 individuals re-examined after 10–20 years.

    PubMed

    Hulleberg, Gunn; Elvrum, Ann-Kristin G; Brandal, Merethe; Vik, Torstein

    2014-12-01

    The frequency and severity of a permanent lesion after brachial plexus birth palsy (BPBP) and its impact on activities of daily living are not well documented. We therefore investigated the outcome of BPBP in adolescents, regarding arm function and consequences for activity and participation. Of 30,574 babies born at St. Olavs University Hospital in 1991-2000, 91 had BPBP (prevalence 3 per 1,000), and 69 of these individuals were examined at a median age of 14 (10-20) years. The examination included the modified Mallet classification, range of motion, shoulder rotation and grip strength, Assisting Hand Assessment, and Canadian Occupational Performance Measure. Of the 22 subjects who were not examined, 3 could not be traced and 19 reported having no problems in the affected arm. At follow-up, 17 adolescents had a permanent lesion (i.e. individual Mallet subscore below 4) with a median Mallet total score of 15 (9-19), while 52 had good or normal shoulder function (median Mallet total score 25 (23-25)). All participants with a permanent lesion had reduced active shoulder rotation (≤15°), 16 had elbow extension deficit, and 10 had subnormal grip strength. External rotation was considerably weaker in the affected shoulder. In addition, they had ineffective use of the affected arm in bimanual activities. Even so, all except 1 were independent in activities of daily living, although 15 experienced minor difficulties. Every fourth to fifth child with BPBP had a permanent lesion as an adolescent. External rotation was the most impaired movement. Despite ineffective use of the affected arm in bimanual activities, all of the participants except one were independent in activities of daily living.

  8. Behcet disease combined with Sjogren syndrome: A unique case report and literature review.

    PubMed

    Ju, Fang-He; Xu, Ting-Zhen; Hong, Hui-Hua; Mao, He; Wang, Meng; Wang, Zhen

    2018-03-01

    Behcet disease(BD) and Sjogren syndrome(SS) are separate conditions that rarely concomitantly affect an individual. In theory,mild symptoms of patients with BD or SS are easy to igore and,thus,remain undiagnosed. There,it is reasonable to believe there may be some clinical cases of combined diseases that go undiscovered and which needs to be taken seriously. In addition,it has been suggested that herpes simplex virus(HSV) types 1 and 2 are associated with BD,but have not been shown to be correlated to the direct pathogenesis of BD. The role of HSV in BD needs more research and attention. Here,we report a young woman who had both BD and SS. The first symptom of the disease was fever. However,the HSV type 1 IgG and HSV type 2 IgM antibody results were positive in our case and,which rendered this case unique. BD and SS concomitantly affect the individual,and BD was the acute type. IV methylprednisolone was used for 9 days and then oral glucocorticoids was used to instead,and the treatment works very well. BD and SS can concomitantly affect an individual,and we believe that HSV-2 may be directly related to the pathogenesis of BD. The nature of BD as an auto-inflammatory disorder, autoimmune disorder, or both, is controversial. If we can find more patients who combined affected these two disease, it might helpful for us to understand the nature of BD. For patients with clinical diagnosis of BD or SS,we need to be alert that it may combinded the other disease. Long term follow up and detailed inspection are important means to avoid undiscovered.

  9. Consider the category: The effect of spacing depends on individual learning histories.

    PubMed

    Slone, Lauren K; Sandhofer, Catherine M

    2017-07-01

    The spacing effect refers to increased retention following learning instances that are spaced out in time compared with massed together in time. By one account, the advantages of spaced learning should be independent of task particulars and previous learning experiences given that spacing effects have been demonstrated in a variety of tasks across the lifespan. However, by another account, spaced learning should be affected by previous learning because past learning affects the memory and attention processes that form the crux of the spacing effect. The current study investigated whether individuals' learning histories affect the role of spacing in category learning. We examined the effect of spacing on 24 2- to 3.5-year-old children's learning of categories organized by properties to which children's previous learning experiences have biased them to attend (i.e., shape) and properties to which children are less biased to attend (i.e., texture and color). Spaced presentations led to significantly better learning of shape categories, but not of texture or color categories, compared with massed presentations. In addition, generalized estimating equations analyses revealed positive relations between the size of children's "shape-side" productive vocabularies and their shape category learning and between the size of children's "against-the-system" productive vocabularies and their texture category learning. These results suggest that children's attention to and memory for novel object categories are strongly related to their individual word-learning histories. Moreover, children's learned attentional biases affected the types of categories for which spacing facilitated learning. These findings highlight the importance of considering how learners' previous experiences may influence future learning. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Dominance rank causally affects personality and glucocorticoid regulation in female rhesus macaques

    PubMed Central

    Kohn, Jordan N.; Snyder-Mackler, Noah; Barreiro, Luis B.; Johnson, Zachary P.; Tung, Jenny; Wilson, Mark E.

    2017-01-01

    Low social status is frequently associated with heightened exposure to social stressors and altered glucocorticoid regulation by the hypothalamic-pituitary-adrenal (HPA) axis. Additionally, personality differences can affect how individuals behave in response to social conditions, and thus may aggravate or protect against the effects of low status on HPA function. Disentangling the relative importance of personality from the effects of the social environment on the HPA axis has been challenging, since social status can predict aspects of behavior, and both can remain stable across the lifespan. To do so here, we studied an animal model of social status and social behavior, the rhesus macaque (Macaca mulatta). We performed two sequential experimental manipulations of dominance rank (i.e., social status) in 45 adult females, allowing us to characterize personality and glucocorticoid regulation (based on sensitivity to the exogenous glucocorticoid dexamethasone) in each individual while she occupied two different dominance ranks. We identified two behavioral characteristics, termed ‘social approachability’ and ‘boldness,’ which were highly social status-dependent. Social approachability and a third dimension, anxiousness, were also associated with cortisol dynamics in low status females, suggesting that behavioral tendencies may sensitize individuals to the effects of low status on HPA axis function. Finally, we found that improvements in dominance rank increased dexamethasone-induced acute cortisol suppression and glucocorticoid negative feedback. Our findings indicate that social status causally affects both behavioral tendencies and glucocorticoid regulation, and that some behavioral tendencies also independently affect cortisol levels, beyond the effects of rank. Together, they highlight the importance of considering personality and social status together when investigating their effects on HPA axis function. PMID:27639059

  11. Dominance rank causally affects personality and glucocorticoid regulation in female rhesus macaques.

    PubMed

    Kohn, Jordan N; Snyder-Mackler, Noah; Barreiro, Luis B; Johnson, Zachary P; Tung, Jenny; Wilson, Mark E

    2016-12-01

    Low social status is frequently associated with heightened exposure to social stressors and altered glucocorticoid regulation by the hypothalamic-pituitary-adrenal (HPA) axis. Additionally, personality differences can affect how individuals behave in response to social conditions, and thus may aggravate or protect against the effects of low status on HPA function. Disentangling the relative importance of personality from the effects of the social environment on the HPA axis has been challenging, since social status can predict aspects of behavior, and both can remain stable across the lifespan. To do so here, we studied an animal model of social status and social behavior, the rhesus macaque (Macaca mulatta). We performed two sequential experimental manipulations of dominance rank (i.e., social status) in 45 adult females, allowing us to characterize personality and glucocorticoid regulation (based on sensitivity to the exogenous glucocorticoid dexamethasone) in each individual while she occupied two different dominance ranks. We identified two behavioral characteristics, termed 'social approachability' and 'boldness,' which were highly social status-dependent. Social approachability and a third dimension, anxiousness, were also associated with cortisol dynamics in low status females, suggesting that behavioral tendencies may sensitize individuals to the effects of low status on HPA axis function. Finally, we found that improvements in dominance rank increased dexamethasone-induced acute cortisol suppression and glucocorticoid negative feedback. Our findings indicate that social status causally affects both behavioral tendencies and glucocorticoid regulation, and that some behavioral tendencies also independently affect cortisol levels, beyond the effects of rank. Together, they highlight the importance of considering personality and social status together when investigating their effects on HPA axis function. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Association of socioeconomic status with diagnosis, treatment and control of hypertension in diabetic hypertensive individuals in Bangladesh: a population-based cross-sectional study.

    PubMed

    Rahman, Mosiur; H, Syed Emdadul; Islam, Md Jahirul; Mostofa, Md Golam; Saadat, Khandakar Asm

    2015-10-01

    This study aimed to examine if socioeconomic status could affect the likelihood of diagnosis, treatment and control of hypertension in diabetic hypertensive individuals. Cross-sectional nationally representative study. Bangladesh. This paper used data from the 2011 Bangladesh Demographic Health Survey. The analyses were based on the responses of 339 diabetes hypertensive individuals. Diagnosis, treatment and control of hypertension. The age-adjusted prevalence of hypertension in diabetes individuals was 38.4% in the study population. Among diabetic hypertensive subjects only 65.7% had been diagnosed, 58.4% were receiving treatment and 42% controlled their hypertension. Individuals from high socioeconomic status (AOR 2.60; 95% CI 1.16-5.83) had an increased likelihood of reporting diagnosis of hypertension. Individuals from medium (AOR 2.22; 95% CI 1.11-4.46) and high socioeconomic status (AOR 3.47; 95% CI 1.59-7.58) had increased chance of receiving treatment. In addition, individuals belonging to high socioeconomic status (AOR 2.53; 95% CI 1.14-5.63) were more likely to report of controlling hypertension. This study indicated that hypertension is more prevalent among diabetic patients. Furthermore, diabetic hypertensive patients from the low socioeconomic status group are also less likely to be diagnosed and also less likely to receive treatment for hypertension. In addition, diabetic hypertensive patients from the low socioeconomic status were less likely to control hypertension compared with an individual belonging to the high socioeconomic status group. This reduced likelihood of receiving proper treatment will lead to a rapid increase in the prevalence of macrovascular and microvascular diseases among diabetic hypertensive patients.

  13. A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

    PubMed

    Ng, Michael; Thakkar, Dipti; Southam, Lorraine; Werker, Paul; Ophoff, Roel; Becker, Kerstin; Nothnagel, Michael; Franke, Andre; Nürnberg, Peter; Espirito-Santo, Ana Isabel; Izadi, David; Hennies, Hans Christian; Nanchahal, Jagdeep; Zeggini, Eleftheria; Furniss, Dominic

    2017-09-07

    Individuals with Dupuytren disease (DD) are commonly seen by physicians and surgeons across multiple specialties. It is an increasingly common and disabling fibroproliferative disorder of the palmar fascia, which leads to flexion contractures of the digits, and is associated with other tissue-specific fibroses. DD affects between 5% and 25% of people of European descent and is the most common inherited disease of connective tissue. We undertook the largest GWAS to date in individuals with a surgically validated diagnosis of DD from the UK, with replication in British, Dutch, and German individuals. We validated association at all nine previously described signals and discovered 17 additional variants with p ≤ 5 × 10 -8 . As a proof of principle, we demonstrated correlation of the high-risk genotype at the statistically most strongly associated variant with decreased secretion of the soluble WNT-antagonist SFRP4, in surgical specimen-derived DD myofibroblasts. These results highlight important pathways involved in the pathogenesis of fibrosis, including WNT signaling, extracellular matrix modulation, and inflammation. In addition, many associated loci contain genes that were hitherto unrecognized as playing a role in fibrosis, opening up new avenues of research that may lead to novel treatments for DD and fibrosis more generally. DD represents an ideal human model disease for fibrosis research. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  14. Main and interactive effects of multiple global-change factors on soil respiration and its components: a meta-analysis

    NASA Astrophysics Data System (ADS)

    Zhou, Xuhui

    2014-05-01

    Global change usually involves simultaneous changes in multiple environmental factors, which may considerably affect ecosystem structure and functioning and alter ecosystem services to human society. With increased awareness of their potential interactions, some multi-factorial studies have been conducted to investigate their main and interactive effects on carbon (C) cycling in terrestrial ecosystem. However, how multiple global-change factors affected soil respiration (Rs) and its components (i.e., autotrophic (Ra) and heterotrophic respiration (Rh)) remains controversial among individual studies. In this study, we conducted a meta-analysis to examine the main and possible 2- or 3-factor interactive effects with warming (W), elevated CO2 (E), nitrogen addition (N), increased precipitation (I) and drought (D) on Rs and its components from 150 published papers. Our results show that E, W, I and N significantly stimulated Rs by 29.23%, 7.19%, 22.95%, and 16.90% (p<0.05), respectively, while I depressed it by 16.90% (p<0.01). E consistently induced a significant positive effect on both Ra and Rh, while I affected them with an opposite trend. Among nine two-way interactive effects on Rs, synergistic interaction (i.e., the effect of combined treatment > the additive effects of single two main factors) occurred in E×N, E×W, I×N, and D×W, while neutral interaction (i.e., the effect of combined treatment ≡ the additive one) and antagonistic interaction (i.e., the effect of combined treatment < the additive one)was rare, only in I×W for neutral one and in N×W and I×E for the latter. In addition, E×W and E×N displayed synergistic interactions on Rh. The more dominance of synergistic interactions in two-way interactive effects on Rs and Rh may determine a central positive tendency of Rs in future, and affect the feedback of terrestrial C cycle to the climate system correspondingly.

  15. Consumption of a diet low in advanced glycation end products for 4 weeks improves insulin sensitivity in overweight women.

    PubMed

    Mark, Alicja Budek; Poulsen, Malene Wibe; Andersen, Stine; Andersen, Jeanette Marker; Bak, Monika Judyta; Ritz, Christian; Holst, Jens Juul; Nielsen, John; de Courten, Barbora; Dragsted, Lars Ove; Bügel, Susanne Gjedsted

    2014-01-01

    OBJECTIVE High-heat cooking of food induces the formation of advanced glycation end products (AGEs), which are thought to impair glucose metabolism in type 2 diabetic patients. High intake of fructose might additionally affect endogenous formation of AGEs. This parallel intervention study investigated whether the addition of fructose or cooking methods influencing the AGE content of food affect insulin sensitivity in overweight individuals. RESEARCH DESIGN AND METHODS Seventy-four overweight women were randomized to follow either a high- or low-AGE diet for 4 weeks, together with consumption of either fructose or glucose drinks. Glucose and insulin concentrations-after fasting and 2 h after an oral glucose tolerance test-were measured before and after the intervention. Homeostasis model assessment of insulin resistance (HOMA-IR) and insulin sensitivity index were calculated. Dietary and urinary AGE concentrations were measured (liquid chromatography tandem mass spectrometry) to estimate AGE intake and excretion. RESULTS When adjusted for changes in anthropometric measures during the intervention, the low-AGE diet decreased urinary AGEs, fasting insulin concentrations, and HOMA-IR, compared with the high-AGE diet. Addition of fructose did not affect any outcomes. CONCLUSIONS Diets with high AGE content may increase the development of insulin resistance. AGEs can be reduced by modulation of cooking methods but is unaffected by moderate fructose intake.

  16. Neuroticism and Extraversion Magnify Discrepancies Between Retrospective and Concurrent Affect Reports.

    PubMed

    Lay, Jennifer C; Gerstorf, Denis; Scott, Stacey B; Pauly, Theresa; Hoppmann, Christiane A

    2017-12-01

    Although research often relies on retrospective affect self-reports, little is known about personality's role in retrospective reports and how these converge or deviate from affect reported in the moment. This micro-longitudinal study examines personality (Neuroticism, Extraversion) and emotional salience (peak and recent affect) associations with retrospective-momentary affect report discrepancies over different time frames. Participants were 179 adults aged 20-78 (M = 48.7 years; 73.7% Caucasian/White) who each provided up to 60 concurrent affect reports over 10 days, then retrospectively reported overall intensity of each affective state after 1 day and again after 1-2 months. Multilevel models revealed that individuals retrospectively overreported or underreported various affective states, exhibiting peak associations for high arousal positive and negative affect, recency associations for low arousal positive affect, and distinct personality profiles that strengthened over time. Individuals high in both Extraversion and Neuroticism exaggerated high arousal positive and negative affect and underreported low arousal positive affect, high Extraversion/low Neuroticism individuals exaggerated high arousal positive affect and underreported low arousal positive affect, and low Extraversion/high Neuroticism individuals exaggerated high and low arousal negative affect. This study is the first to identify arousal-specific retrospective affect report discrepancies over time and suggests retrospective reports also reflect personality differences in affective self-knowledge. © 2016 Wiley Periodicals, Inc.

  17. World Bank: harnessing civil society expertise in undertaking and disseminating research findings.

    PubMed

    Simms, Ben

    2013-01-01

    The UK Consortium on AIDS and International Development was an essential partner to the evaluation leaders in harnessing the contribution and expertise of civil society. This article describes what the partnership entailed, the additional value it brought and how civil society might use the evaluation findings both as a tool for advocacy and a means for improving its own engagement with the individuals directly affected by HIV and with those who care for them.

  18. Intrafamilial phenotypic heterogeneity of the Poland complex: a case report.

    PubMed

    Parano, E; Falsaperla, R; Pavone, V; Toscano, A; Bolan, E A; Trifiletti, R R

    1995-08-01

    Three cases of familial unilateral gluteal hypoplasia are reported. The index case in addition to having gluteal hypoplasia also has unilateral pectoral muscle hypoplasia. Another relative has unilateral symbrachydactyly of the distal phalanges of one foot. All four affected individuals in our pedigree were female. We propose that our cases are best classified as part of the Poland complex of anomalies. Our cases emphasize that intrafamilial phenotypic heterogeneity is possible within the Poland complex.

  19. Strategies for individualizing management of patients with metastatic melanoma: a managed care perspective.

    PubMed

    Goldstein, Daniel A; Zeichner, Simon B

    2015-09-01

    The management of metastatic melanoma has been revolutionized in recent years with the development of both targeted therapy and immunotherapy. Although potentially extending the life expectancy for patients, these therapies also significantly increase the healthcare expenditure. In this paper, we review the monthly costs for drugs approved by the FDA since 2011. Additionally, factors that affect the cost, such as dosing strategies, biomarkers, combination therapies, and political/legislative issues, will be discussed.

  20. Relationship between touch sensation of the affected hand and performance of valued activities in individuals with chronic stroke.

    PubMed

    Hill, Valerie A; Fisher, Thomas; Schmid, Arlene A; Crabtree, Jeffrey; Page, Stephen J

    2014-01-01

    To investigate the association between touch sensation of the affected hand and performance and satisfaction with performance of valued activities in individuals with chronic stroke. Using a cross-sectional study design, this study correlated factors related to hand sensation and activity performance in individuals with chronic stroke. The Touch Test Evaluators and Canadian Occupational Performance Measure (COPM) were used. Correlations were used to determine the relationships between touch sensation of the affected hand and individuals' performance and satisfaction with performance of valued activities. There was a good to excellent relationship between sensation and performance and satisfaction with performance of valued activities for individuals with intact touch sensation of the affected hand who scored higher on the COPM. There was little to no relationship between touch sensation of the affected hand and performance of valued activities for individuals with impaired sensation. This is the first study to relate touch sensation of the affected hand and performance and satisfaction with performance of valued activities in individuals with stroke. The findings suggest that rehabilitation therapists need to continue to address sensory function in evaluation and intervention as it relates to performance in valued activities. This study serves as a foundation for future research in sensation and performance of valued activities in individuals with chronic stroke.

  1. Clinical Pharmacokinetics and Pharmacodynamics of Clopidogrel

    PubMed Central

    Jiang, Xi-Ling; Samant, Snehal; Lesko, Lawrence J.; Schmidt, Stephan

    2017-01-01

    Acute coronary syndromes (ACS) remain life-threatening disorders that are associated with high morbidity and mortality. Dual-antiplatelet therapy with aspirin and clopidogrel has shown to reduce cardiovascular events in patients with ACS. However, there is substantial inter-individual variability in response to clopidogrel treatment in addition to prolonged recovery of platelet reactivity as a result of irreversible binding to P2Y12 receptors. This high inter-individual variability in treatment response has primarily been associated with genetic polymorphisms in the genes encoding for cytochrome (CYP) 2C19 that affect clopidogrel’s pharmacokinetics. While FDA has issued a boxed warning for CYP2C19 poor metabolizers due to a potentially reduced efficacy in these patients, results from multivariate analyses suggest that additional factors, including age, sex, obesity, concurrent diseases and drug-drug interactions, may all contribute to the overall between-subject variability in treatment response. However, the extent to which each of these factors contributes to the overall variability and how they are interrelated is currently unclear. The objective of this review article is to provide a comprehensive update on the different factors that influence clopidogrel’s pharmacokinetics and pharmacodynamics and how they mechanistically contribute to inter-individual differences in response to clopidogrel treatment. PMID:25559342

  2. Quarrelsome behavior in borderline personality disorder: influence of behavioral and affective reactivity to perceptions of others.

    PubMed

    Sadikaj, Gentiana; Moskowitz, D S; Russell, Jennifer J; Zuroff, David C; Paris, Joel

    2013-02-01

    We examined how the amplification of 3 within-person processes (behavioral reactivity to interpersonal perceptions, affect reactivity to interpersonal perceptions, and behavioral reactivity to a person's own affect) accounts for greater quarrelsome behavior among individuals with borderline personality disorder (BPD). Using an event-contingent recording (ECR) methodology, individuals with BPD (N = 38) and community controls (N = 31) reported on their negative affect, quarrelsome behavior, and perceptions of the interaction partner's agreeable-quarrelsome behavior in interpersonal events during a 20-day period. Behavioral reactivity to negative affect was similar in both groups. However, behavioral reactivity and affect reactivity to interpersonal perceptions were elevated in individuals with BPD relative to community controls; specifically, individuals with BPD reported more quarrelsome behavior and more negative affect during interactions in which they perceived others as more cold-quarrelsome. Greater negative affect reactivity to perceptions of other's cold-quarrelsome behavior partly accounted for the increased quarrelsome behavior reported by individuals with BPD during these interactions. This pattern of results suggests a cycle in which the perception of cold-quarrelsome behavior in others triggers elevated negative affect and quarrelsome behavior in individuals with BPD, which subsequently led to more quarrelsome behavior from their interaction partners, which leads to perceptions of others as cold-quarrelsomeness, which begins the cycle anew. 2013 APA, all rights reserved

  3. Interactive effects of inbreeding and endocrine disruption on reproduction in a model laboratory fish.

    PubMed

    Bickley, Lisa K; Brown, Andrew R; Hosken, David J; Hamilton, Patrick B; Le Page, Gareth; Paull, Gregory C; Owen, Stewart F; Tyler, Charles R

    2013-02-01

    Inbreeding depression is expected to be more severe in stressful environments. However, the extent to which inbreeding affects the vulnerability of populations to environmental stressors, such as chemical exposure, remains unresolved. Here we report on the combined impacts of inbreeding and exposure to an endocrine disrupting chemical (the fungicide clotrimazole) on zebrafish (Danio rerio). We show that whilst inbreeding can negatively affect reproductive traits, not all traits are affected equally. Inbreeding depression frequently only became apparent when fish were additionally stressed by chemical exposure. Embryo viability was significantly reduced in inbred exposed fish and there was a tendency for inbred males to sire fewer offspring when in direct competition with outbred individuals. Levels of plasma 11-ketotestosterone, a key male sex hormone, showed substantial inbreeding depression that was unaffected by addition of the fungicide. In contrast, there was no effect of inbreeding or clotrimazole exposure on egg production. Overall, our data provide evidence that stress may amplify the effects of inbreeding on key reproductive traits, particularly those associated with male fitness. This may have important implications when considering the consequences of exposure to chemical pollutants on the fitness of wild populations.

  4. Interactive effects of inbreeding and endocrine disruption on reproduction in a model laboratory fish

    PubMed Central

    Bickley, Lisa K; Brown, Andrew R; Hosken, David J; Hamilton, Patrick B; Le Page, Gareth; Paull, Gregory C; Owen, Stewart F; Tyler, Charles R

    2013-01-01

    Inbreeding depression is expected to be more severe in stressful environments. However, the extent to which inbreeding affects the vulnerability of populations to environmental stressors, such as chemical exposure, remains unresolved. Here we report on the combined impacts of inbreeding and exposure to an endocrine disrupting chemical (the fungicide clotrimazole) on zebrafish (Danio rerio). We show that whilst inbreeding can negatively affect reproductive traits, not all traits are affected equally. Inbreeding depression frequently only became apparent when fish were additionally stressed by chemical exposure. Embryo viability was significantly reduced in inbred exposed fish and there was a tendency for inbred males to sire fewer offspring when in direct competition with outbred individuals. Levels of plasma 11-ketotestosterone, a key male sex hormone, showed substantial inbreeding depression that was unaffected by addition of the fungicide. In contrast, there was no effect of inbreeding or clotrimazole exposure on egg production. Overall, our data provide evidence that stress may amplify the effects of inbreeding on key reproductive traits, particularly those associated with male fitness. This may have important implications when considering the consequences of exposure to chemical pollutants on the fitness of wild populations. PMID:23798977

  5. Effect of chromatic-dispersion-induced chirp on the temporal coherence properties of individual beams from spontaneous four-wave mixing

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Ma Xiaoxin; Li Xiaoying; Cui Liang

    2011-08-15

    Temporal coherence of individual signal or idler beam, determined by the spectral correlation property of photon pairs, is important for realizing quantum interference among independent sources. Based on spontaneous four-wave mixing in optical fibers, we study the effect of chirp on the temporal coherence property by introducing a different amount of chirp into either the pulsed pump or individual signal (idler) beam. The investigation shows that the pump chirp induces additional frequency correlation into photon pairs; the mutual spectral correlation of photon pairs and the coherence of individual beam can be characterized by measuring the intensity correlation function g{sup (2)}more » of the individual beam. To improve the coherence degree, the pump chirp should be minimized. Moreover, a Hong-Ou-Mandel-type two-photon interference experiment with the signal beams generated in two different fibers illustrates that the chirp of the individual signal (idler) beam does not change the temporal coherence degree, but affects the temporal mode matching. To achieve high visibility among multiple sources, apart from improving the coherence degree, mode matching should be optimized by managing the chirps of individual beams.« less

  6. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

    PubMed

    Knowles, Michael R; Ostrowski, Lawrence E; Leigh, Margaret W; Sears, Patrick R; Davis, Stephanie D; Wolf, Whitney E; Hazucha, Milan J; Carson, Johnny L; Olivier, Kenneth N; Sagel, Scott D; Rosenfeld, Margaret; Ferkol, Thomas W; Dell, Sharon D; Milla, Carlos E; Randell, Scott H; Yin, Weining; Sannuti, Aruna; Metjian, Hilda M; Noone, Peadar G; Noone, Peter J; Olson, Christina A; Patrone, Michael V; Dang, Hong; Lee, Hye-Seung; Hurd, Toby W; Gee, Heon Yung; Otto, Edgar A; Halbritter, Jan; Kohl, Stefan; Kircher, Martin; Krischer, Jeffrey; Bamshad, Michael J; Nickerson, Deborah A; Hildebrandt, Friedhelm; Shendure, Jay; Zariwala, Maimoona A

    2014-03-15

    Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause is not defined for all patients with PCD. To identify disease-causing mutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies in patients with PCD. Whole-exome sequencing was performed using NimbleGen capture and Illumina HiSeq sequencing. Sanger-based sequencing was used for mutation scanning, validation, and segregation analysis. We performed exome sequencing on an affected sib-pair with normal ultrastructure in more than 85% of cilia. A homozygous splice-site mutation was detected in RSPH1 in both siblings; parents were carriers. Screening RSPH1 in 413 unrelated probands, including 325 with PCD and 88 with idiopathic bronchiectasis, revealed biallelic loss-of-function mutations in nine additional probands. Five affected siblings of probands in RSPH1 families harbored the familial mutations. The 16 individuals with RSPH1 mutations had some features of PCD; however, nasal nitric oxide levels were higher than in patients with PCD with other gene mutations (98.3 vs. 20.7 nl/min; P < 0.0003). Additionally, individuals with RSPH1 mutations had a lower prevalence (8 of 16) of neonatal respiratory distress, and later onset of daily wet cough than typical for PCD, and better lung function (FEV1), compared with 75 age- and sex-matched PCD cases (73.0 vs. 61.8, FEV1 % predicted; P = 0.043). Cilia from individuals with RSPH1 mutations had normal beat frequency (6.1 ± Hz at 25°C), but an abnormal, circular beat pattern. The milder clinical disease and higher nasal nitric oxide in individuals with biallelic mutations in RSPH1 provides evidence of a unique genotype-phenotype relationship in PCD, and suggests that mutations in RSPH1 may be associated with residual ciliary function.

  7. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

    PubMed

    Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Pöyhönen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E; Kuismin, Outi; Kurki, Mitja I; Anttonen, Anna-Kaisa; Tanaka, Keiji; Palotie, Aarno; Waguri, Satoshi; Lehesjoki, Anna-Elina; Komatsu, Masaaki

    2016-09-01

    The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we identified pathogenic compound heterozygous variants in UBA5, encoding an activating enzyme for UFM1, in two unrelated families. Two additional individuals with biallelic UBA5 variants were identified from the UK-based Deciphering Developmental Disorders study and one from the Northern Finland Intellectual Disability cohort. The affected individuals (n = 9) presented in early infancy with severe irritability, followed by dystonia and stagnation of development. Furthermore, the majority of individuals display postnatal microcephaly and epilepsy and develop spasticity. The affected individuals were compound heterozygous for a missense substitution, c.1111G>A (p.Ala371Thr; allele frequency of 0.28% in Europeans), and a nonsense variant or c.164G>A that encodes an amino acid substitution p.Arg55His, but also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function allele. Using an in vitro thioester formation assay and cellular analyses, we show that the p.Ala371Thr variant is hypomorphic with attenuated ability to transfer the activated UFM1 to UFC1. Finally, we show that the CNS-specific knockout of Ufm1 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further suggesting that the UFM1 system is essential for CNS development and function. Taken together, our data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. Prevalence of depression and associated clinical and socio-demographic factors in people living with lymphatic filariasis in Plateau State, Nigeria.

    PubMed

    Obindo, James; Abdulmalik, Jibril; Nwefoh, Emeka; Agbir, Michael; Nwoga, Charles; Armiya'u, Aishatu; Davou, Francis; Maigida, Kurkat; Otache, Emmanuel; Ebiloma, Ajuma; Dakwak, Samuel; Umaru, John; Samuel, Elisha; Ogoshi, Christopher; Eaton, Julian

    2017-06-01

    Lymphatic filariasis is a chronic, disabling and often disfiguring condition that principally impacts the world's poorest people. In addition to the well-recognised physical disability associated with lymphedema and hydrocele, affected people often experience rejection, stigma and discrimination. The resulting emotional consequences are known to impact on the quality of life and the functioning of the affected individuals. However, the management of this condition has focused on prevention and treatment through mass drug administration, with scant attention paid to the emotional impact of the condition on affected individuals. This study aimed to determine the prevalence and severity of depression among individuals with physical disfigurement from lymphatic filariasis in Plateau State, Nigeria. A cross-sectional 2-stage convenience study was conducted at 5 designated treatment centers across Plateau State, Nigeria. All available and consenting clients with clearly visible physical disfigurement were recruited. A semi-structured socio-demographic questionnaire, Rosenberg Self-esteem and a 9-item Patient Health Questionnaire (PHQ-9) were administered at the first stage. Those who screened positive (with a PHQ-9 score of five and above) were further interviewed using the Depression module of the Composite International Diagnostic Interview (CIDI). Ninety-eight individuals met the criteria and provided consent. Twenty percent of the respondents met criteria for depression, with the following proportions based on severity: Mild (42.1%), Moderate (31.6%) and Severe (26.3%). History of mental illness (OR 40.83, p = 0.008); Median duration of the illness was 17 years (IQR 7.0-30 years) and being unemployed (OR 12.71, p = 0.003) were predictive of depression. High self-esteem was negatively correlated (OR 0.09, p<0.004). Prevalence of depression is high among individuals with lymphatic filariasis and depression in sufferers is associated with low self-esteem and low levels of life satisfaction.

  9. Common genetic variation drives molecular heterogeneity in human iPSCs.

    PubMed

    Kilpinen, Helena; Goncalves, Angela; Leha, Andreas; Afzal, Vackar; Alasoo, Kaur; Ashford, Sofie; Bala, Sendu; Bensaddek, Dalila; Casale, Francesco Paolo; Culley, Oliver J; Danecek, Petr; Faulconbridge, Adam; Harrison, Peter W; Kathuria, Annie; McCarthy, Davis; McCarthy, Shane A; Meleckyte, Ruta; Memari, Yasin; Moens, Nathalie; Soares, Filipa; Mann, Alice; Streeter, Ian; Agu, Chukwuma A; Alderton, Alex; Nelson, Rachel; Harper, Sarah; Patel, Minal; White, Alistair; Patel, Sharad R; Clarke, Laura; Halai, Reena; Kirton, Christopher M; Kolb-Kokocinski, Anja; Beales, Philip; Birney, Ewan; Danovi, Davide; Lamond, Angus I; Ouwehand, Willem H; Vallier, Ludovic; Watt, Fiona M; Durbin, Richard; Stegle, Oliver; Gaffney, Daniel J

    2017-06-15

    Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous potential to provide improved cellular models of human disease. However, variable genetic and phenotypic characterization of many existing iPS cell lines limits their potential use for research and therapy. Here we describe the systematic generation, genotyping and phenotyping of 711 iPS cell lines derived from 301 healthy individuals by the Human Induced Pluripotent Stem Cells Initiative. Our study outlines the major sources of genetic and phenotypic variation in iPS cells and establishes their suitability as models of complex human traits and cancer. Through genome-wide profiling we find that 5-46% of the variation in different iPS cell phenotypes, including differentiation capacity and cellular morphology, arises from differences between individuals. Additionally, we assess the phenotypic consequences of genomic copy-number alterations that are repeatedly observed in iPS cells. In addition, we present a comprehensive map of common regulatory variants affecting the transcriptome of human pluripotent cells.

  10. Lubrication mechanisms of hollow-core inorganic fullerene-like nanoparticles: coupling experimental and computational works

    NASA Astrophysics Data System (ADS)

    Lahouij, I.; Bucholz, E. W.; Vacher, B.; Sinnott, S. B.; Martin, J. M.; Dassenoy, F.

    2012-09-01

    Inorganic fullerene-like (IF) nanoparticles made of metal dichalcogenides have previously been recognized to be good friction modifiers and anti-wear additives under boundary lubrication conditions. The tribological performance of these particles appears to be a result of their size, structure and morphology, along with the test conditions. However, the very small scale of the IF nanoparticles makes distinguishing the properties which affect the lubrication mechanism exceedingly difficult. In this work, a high resolution transmission electron microscope equipped with a nanoindentation holder is used to manipulate individual hollow IF-WS2 nanoparticles and to investigate their responses to compression. Additional atomistic molecular dynamics (MD) simulations of similarly structured, individual hollow IF-MoS2 nanoparticles are performed for compression studies between molybdenum surfaces on their major and minor axis diameters. MD simulations of these structures allows for characterization of the influence of structural orientation on the mechanical behavior and nano-sheet exfoliation of hollow-core IF nanoparticles. The experimental and theoretical results for these similar nanoparticles are qualitatively compared.

  11. Lubrication mechanisms of hollow-core inorganic fullerene-like nanoparticles: coupling experimental and computational works.

    PubMed

    Lahouij, I; Bucholz, E W; Vacher, B; Sinnott, S B; Martin, J M; Dassenoy, F

    2012-09-21

    Inorganic fullerene-like (IF) nanoparticles made of metal dichalcogenides have previously been recognized to be good friction modifiers and anti-wear additives under boundary lubrication conditions. The tribological performance of these particles appears to be a result of their size, structure and morphology, along with the test conditions. However, the very small scale of the IF nanoparticles makes distinguishing the properties which affect the lubrication mechanism exceedingly difficult. In this work, a high resolution transmission electron microscope equipped with a nanoindentation holder is used to manipulate individual hollow IF-WS(2) nanoparticles and to investigate their responses to compression. Additional atomistic molecular dynamics (MD) simulations of similarly structured, individual hollow IF-MoS(2) nanoparticles are performed for compression studies between molybdenum surfaces on their major and minor axis diameters. MD simulations of these structures allows for characterization of the influence of structural orientation on the mechanical behavior and nano-sheet exfoliation of hollow-core IF nanoparticles. The experimental and theoretical results for these similar nanoparticles are qualitatively compared.

  12. The Key Factors Affecting Students' Individual Interest in School Science Lessons

    ERIC Educational Resources Information Center

    Cheung, Derek

    2018-01-01

    Individual interest in school science lessons can be defined as a relatively stable and enduring personal emotion comprising affective and behavioural reactions to events in the regular science lessons at school. Little research has compared the importance of different factors affecting students' individual interest in school science lessons. The…

  13. Interactive effects of nitrogen addition, warming and invasion across organizational levels in an old-field plant community.

    PubMed

    Gornish, Elise S

    2014-10-08

    Response to global change is dependent on the level of biological organization (e.g. the ecologically relevant spatial scale) in which species are embedded. For example, individual responses can affect population-level responses, which, in turn, can affect community-level responses. Although relationships are known to exist among responses to global change across levels of biological organization, formal investigations of these relationships are still uncommon. I conducted an exploratory analysis to identify how nitrogen addition and warming by open top chambers might affect plants across spatial scales by estimating treatment effect size at the leaf level, the plant level and the community level. Moreover, I investigated if the presence of Pityopsis aspera, an experimentally introduced plant species, modified the relationship between spatial scale and effect size across treatments. I found that, overall, the spatial scale significantly contributes to differences in effect size, supporting previous work which suggests that mechanisms driving biotic response to global change are scale dependent. Interestingly, the relationship between spatial scale and effect size in both the absence and presence of experimental invasion is very similar for nitrogen addition and warming treatments. The presence of invasion, however, did not affect the relationship between spatial scale and effect size, suggesting that in this system, invasion may not exacerbate or attenuate climate change effects. This exercise highlights the value of moving beyond integration and scaling to the practice of directly testing for scale effects within single experiments. Published by Oxford University Press on behalf of the Annals of Botany Company.

  14. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    PubMed

    Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C M; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata J M; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2015-03-05

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  15. Dynamic changes in parent affect and adolescent cardiac vagal regulation: a real-time analysis.

    PubMed

    Cui, Lixian; Morris, Amanda Sheffield; Harrist, Amanda W; Larzelere, Robert E; Criss, Michael M

    2015-04-01

    The current study explored the role of parents' negative and positive affect in adolescent respiratory sinus arrhythmia (RSA) reactivity during a parent-adolescent conflict discussion task and the moderating effects of adolescent sex and age. Questionnaire data were collected from 206 adolescents (10-18 years of age; M = 13.37 years) and their primary caregivers (83.3% biological mothers). Electrocardiogram and respiration data were collected from adolescents, and RSA variables were computed. Parent affect was coded during the conflict discussion task. Multilevel modeling was used to distinguish the between- and within-individual effects of parent affect on adolescent RSA. Results indicated that observed within-parent-teen dyad anger was negatively associated with adolescent RSA, controlling for previous-minute RSA level, particularly among adolescents 13 years and older. In addition, observed between-dyad positive affect was positively linked to RSA for both boys and girls when previous-minute RSA level was controlled. Within-dyad positive affect was positively related to girl's RSA only. These findings suggest that expressions of positive affect may be related to better vagal regulation (RSA increases), whereas expressions of anger may be related to poor vagal regulation (RSA decreases) during social engagement. (c) 2015 APA, all rights reserved).

  16. Direct and indirect genetic and fine-scale location effects on breeding date in song sparrows.

    PubMed

    Germain, Ryan R; Wolak, Matthew E; Arcese, Peter; Losdat, Sylvain; Reid, Jane M

    2016-11-01

    Quantifying direct and indirect genetic effects of interacting females and males on variation in jointly expressed life-history traits is central to predicting microevolutionary dynamics. However, accurately estimating sex-specific additive genetic variances in such traits remains difficult in wild populations, especially if related individuals inhabit similar fine-scale environments. Breeding date is a key life-history trait that responds to environmental phenology and mediates individual and population responses to environmental change. However, no studies have estimated female (direct) and male (indirect) additive genetic and inbreeding effects on breeding date, and estimated the cross-sex genetic correlation, while simultaneously accounting for fine-scale environmental effects of breeding locations, impeding prediction of microevolutionary dynamics. We fitted animal models to 38 years of song sparrow (Melospiza melodia) phenology and pedigree data to estimate sex-specific additive genetic variances in breeding date, and the cross-sex genetic correlation, thereby estimating the total additive genetic variance while simultaneously estimating sex-specific inbreeding depression. We further fitted three forms of spatial animal model to explicitly estimate variance in breeding date attributable to breeding location, overlap among breeding locations and spatial autocorrelation. We thereby quantified fine-scale location variances in breeding date and quantified the degree to which estimating such variances affected the estimated additive genetic variances. The non-spatial animal model estimated nonzero female and male additive genetic variances in breeding date (sex-specific heritabilities: 0·07 and 0·02, respectively) and a strong, positive cross-sex genetic correlation (0·99), creating substantial total additive genetic variance (0·18). Breeding date varied with female, but not male inbreeding coefficient, revealing direct, but not indirect, inbreeding depression. All three spatial animal models estimated small location variance in breeding date, but because relatedness and breeding location were virtually uncorrelated, modelling location variance did not alter the estimated additive genetic variances. Our results show that sex-specific additive genetic effects on breeding date can be strongly positively correlated, which would affect any predicted rates of microevolutionary change in response to sexually antagonistic or congruent selection. Further, we show that inbreeding effects on breeding date can also be sex specific and that genetic effects can exceed phenotypic variation stemming from fine-scale location-based variation within a wild population. © 2016 The Authors. Journal of Animal Ecology © 2016 British Ecological Society.

  17. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

    PubMed Central

    Basmanav, F. Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M.; Thiele, Holger; Fritz, Günter; Wenzel, Jörg; Größer, Leopold; Wehner, Maria; Wolf, Sabrina; Fagerberg, Christina; Bygum, Anette; Altmüller, Janine; Rütten, Arno; Parmentier, Laurent; El Shabrawi-Caelen, Laila; Hafner, Christian; Nürnberg, Peter; Kruse, Roland; Schoch, Susanne; Hanneken, Sandra; Betz, Regina C.

    2014-01-01

    Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4∗), c.652C>T (p.Arg218∗), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218∗) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology. PMID:24387993

  18. Analyzing structural changes in SNOMED CT's Bacterial infectious diseases using a visual semantic delta.

    PubMed

    Ochs, Christopher; Case, James T; Perl, Yehoshua

    2017-03-01

    Thousands of changes are applied to SNOMED CT's concepts during each release cycle. These changes are the result of efforts to improve or expand the coverage of health domains in the terminology. Understanding which concepts changed, how they changed, and the overall impact of a set of changes is important for editors and end users. Each SNOMED CT release comes with delta files, which identify all of the individual additions and removals of concepts and relationships. These files typically contain tens of thousands of individual entries, overwhelming users. They also do not identify the editorial processes that were applied to individual concepts and they do not capture the overall impact of a set of changes on a subhierarchy of concepts. In this paper we introduce a methodology and accompanying software tool called a SNOMED CT Visual Semantic Delta ("semantic delta" for short) to enable a comprehensive review of changes in SNOMED CT. The semantic delta displays a graphical list of editing operations that provides semantics and context to the additions and removals in the delta files. However, there may still be thousands of editing operations applied to a set of concepts. To address this issue, a semantic delta includes a visual summary of changes that affected sets of structurally and semantically similar concepts. The software tool for creating semantic deltas offers views of various granularities, allowing a user to control how much change information they view. In this tool a user can select a set of structurally and semantically similar concepts and review the editing operations that affected their modeling. The semantic delta methodology is demonstrated on SNOMED CT's Bacterial infectious disease subhierarchy, which has undergone a significant remodeling effort over the last two years. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Analyzing Structural Changes in SNOMED CT’s Bacterial Infectious Diseases Using a Visual Semantic Delta

    PubMed Central

    Ochs, Christopher; Case, James T.; Perl, Yehoshua

    2017-01-01

    Thousands of changes are applied to SNOMED CT’s concepts during each release cycle. These changes are the result of efforts to improve or expand the coverage of health domains in the terminology. Understanding which concepts changed, how they changed, and the overall impact of a set of changes is important for editors and end users. Each SNOMED CT release comes with delta files, which identify all of the individual additions and removals of concepts and relationships. These files typically contain tens of thousands of individual entries, overwhelming users. They also do not identify the editorial processes that were applied to individual concepts and they do not capture the overall impact of a set of changes on a subhierarchy of concepts. In this paper we introduce a methodology and accompanying software tool called a SNOMED CT Visual Semantic Delta (“semantic delta” for short) to enable a comprehensive review of changes in SNOMED CT. The semantic delta displays a graphical list of editing operations that provides semantics and context to the additions and removals in the delta files. However, there may still be thousands of editing operations applied to a set of concepts. To address this issue, a semantic delta includes a visual summary of changes that affected sets of structurally and semantically similar concepts. The software tool for creating semantic deltas offers views of various granularities, allowing a user to control how much change information they view. In this tool a user can select a set of structurally and semantically similar concepts and review the editing operations that affected their modeling. The semantic delta methodology is demonstrated on SNOMED CT’s Bacterial infectious disease subhierarchy, which has undergone a significant remodeling effort over the last two years. PMID:28215561

  20. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

    PubMed

    Massink, Maarten P G; Créton, Marijn A; Spanevello, Francesca; Fennis, Willem M M; Cune, Marco S; Savelberg, Sanne M C; Nijman, Isaäc J; Maurice, Madelon M; van den Boogaard, Marie-José H; van Haaften, Gijs

    2015-10-01

    Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and as a syndromal feature. We performed exome sequencing on 20 unrelated individuals with apparent non-syndromic oligodontia and failed to detect mutations in genes previously associated with oligodontia. In three of the probands, we detected heterozygous variants in LRP6, and sequencing of additional oligodontia-affected individuals yielded one additional mutation in LRP6. Three mutations (c.1144_1145dupAG [p.Ala383Glyfs(∗)8], c.1779dupT [p.Glu594(∗)], and c.2224_2225dupTT [p.Leu742Phefs(∗)7]) are predicted to truncate the protein, whereas the fourth (c.56C>T [p.Ala19Val]) is a missense variant of a conserved residue located at the cleavage site of the protein's signal peptide. All four affected individuals harboring a LRP6 mutation had a family history of tooth agenesis. LRP6 encodes a transmembrane cell-surface protein that functions as a co-receptor with members from the Frizzled protein family in the canonical Wnt/β-catenin signaling cascade. In this same pathway, WNT10A was recently identified as a major contributor in the etiology of non-syndromic oligodontia. We show that the LRP6 missense variant (c.56C>T) results in altered glycosylation and improper subcellular localization of the protein, resulting in abrogated activation of the Wnt pathway. Our results identify LRP6 variants as contributing to the etiology of non-syndromic autosomal-dominant oligodontia and suggest that this gene is a candidate for screening in DNA diagnostics. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  1. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

    PubMed Central

    Massink, Maarten P.G.; Créton, Marijn A.; Spanevello, Francesca; Fennis, Willem M.M.; Cune, Marco S.; Savelberg, Sanne M.C.; Nijman, Isaäc J.; Maurice, Madelon M.; van den Boogaard, Marie-José H.; van Haaften, Gijs

    2015-01-01

    Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and as a syndromal feature. We performed exome sequencing on 20 unrelated individuals with apparent non-syndromic oligodontia and failed to detect mutations in genes previously associated with oligodontia. In three of the probands, we detected heterozygous variants in LRP6, and sequencing of additional oligodontia-affected individuals yielded one additional mutation in LRP6. Three mutations (c.1144_1145dupAG [p.Ala383Glyfs∗8], c.1779dupT [p.Glu594∗], and c.2224_2225dupTT [p.Leu742Phefs∗7]) are predicted to truncate the protein, whereas the fourth (c.56C>T [p.Ala19Val]) is a missense variant of a conserved residue located at the cleavage site of the protein’s signal peptide. All four affected individuals harboring a LRP6 mutation had a family history of tooth agenesis. LRP6 encodes a transmembrane cell-surface protein that functions as a co-receptor with members from the Frizzled protein family in the canonical Wnt/β-catenin signaling cascade. In this same pathway, WNT10A was recently identified as a major contributor in the etiology of non-syndromic oligodontia. We show that the LRP6 missense variant (c.56C>T) results in altered glycosylation and improper subcellular localization of the protein, resulting in abrogated activation of the Wnt pathway. Our results identify LRP6 variants as contributing to the etiology of non-syndromic autosomal-dominant oligodontia and suggest that this gene is a candidate for screening in DNA diagnostics. PMID:26387593

  2. Temporal dynamics of physical activity and affect in depressed and nondepressed individuals.

    PubMed

    Stavrakakis, Nikolaos; Booij, Sanne H; Roest, Annelieke M; de Jonge, Peter; Oldehinkel, Albertine J; Bos, Elisabeth H

    2015-12-01

    The association between physical activity and affect found in longitudinal observational studies is generally small to moderate. It is unknown how this association generalizes to individuals. The aim of the present study was to investigate interindividual differences in the bidirectional dynamic relationship between physical activity and affect, in depressed and nondepressed individuals, using time-series analysis. A pair-matched sample of 10 depressed and 10 nondepressed participants (mean age = 36.6, SD = 8.9, 30% males) wore accelerometers and completed electronic questionnaires 3 times a day for 30 days. Physical activity was operationalized as the total energy expenditure (EE) per day segment (i.e., 6 hr). The multivariate time series (T = 90) of every individual were analyzed using vector autoregressive modeling (VAR), with the aim to assess direct as well as lagged (i.e., over 1 day) effects of EE on positive and negative affect, and vice versa. Large interindividual differences in the strength, direction and temporal aspects of the relationship between physical activity and positive and negative affect were observed. An exception was the direct (but not the lagged) effect of physical activity on positive affect, which was positive in nearly all individuals. This study showed that the association between physical activity and affect varied considerably across individuals. Thus, while at the group level the effect of physical activity on affect may be small, in some individuals the effect may be clinically relevant. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

  3. Modulation of central serotonin affects emotional information processing in impulsive aggressive personality disorder.

    PubMed

    Lee, Royce J; Gill, Andrew; Chen, Bing; McCloskey, Michael; Coccaro, Emil F

    2012-06-01

    The mechanistic model whereby serotonin affects impulsive aggression is not completely understood. The purpose of this study was to test the hypothesis that depletion of serotonin reserves by tryptophan depletion affects emotional information processing in susceptible individuals. The effect of tryptophan (vs placebo) depletion on processing of Ekman emotional faces was compared in impulsive aggressive personality disordered, male and female adults with normal controls. All subjects were free of psychotropic medications, medically healthy, nondepressed, and substance free. Additionally, subjective mood state and vital signs were monitored. For emotion recognition, a significant interaction of Aggression × Drug × Sex (F(1, 31) = 7.687, P = 0.009) was found, with male normal controls but not impulsive aggressive males showing increased recognition of fear. For intensity ratings of emotional faces, a significant interaction was discovered of Drug × Group × Sex (F(1, 31) = 5.924, P = 0.021), with follow-up tests revealing that males with intermittent explosive disorder tended to increase intensity ratings of angry faces after tryptophan depletion. Additionally, tryptophan depletion was associated with increased heart rate in all subjects, and increased intensity of the subjective emotional state of "anger" in impulsive aggressive subjects. Individuals with clinically relevant levels of impulsive aggression may be susceptible to effects of serotonergic depletion on emotional information processing, showing a tendency to exaggerate their impression of the intensity of angry expressions and to report an angry mood state after tryptophan depletion. This may reflect heightened sensitivity to the effects of serotonergic dysregulation, and suggests that what underlies impulsive aggression is either supersensitivity to serotonergic disturbances or susceptibility to fluctuations in central serotonergic availability.

  4. Tropopause Inversion Layer and Stratosphere-Troposphere Exchange in Baroclinic Life Cycles: The Role of Diabatic Processes

    NASA Astrophysics Data System (ADS)

    Kunkel, D.; Hoor, P. M.; Wirth, V.

    2014-12-01

    Observations and model simulations of temperature and tracer profiles in the extratropical upper troposphere/lower stratosphere (UTLS) show the presence of an inversion layer just above the thermal tropopause, i.e., the tropopause inversion layer (TIL), which is situated in a region affected by stratosphere-troposphere exchange (STE). Moreover, from a dynamical perspective the extratropical UTLS is highly affected by baroclinic life cycles. Since both the TIL and STE emerge, amongst many other features, during simulated baroclinic life cycles, we study whether there is a relationship between the TIL and STE. We use the non-hydrostatic model COSMO in an idealized mid-latitude channel configuration to simulate baroclinic life cycles. In a first step contributions of individual diabatic processes from turbulence, radiation, and cloud microphysics to the formation of the TIL are analyzed. These results are compared to those from adiabatic simulations in which the TIL forms during the life cycles with the limitation of being less sharp than in observations. Furthermore, passive tropospheric and stratospheric tracers are used to identify STE. Regions of STE are then analyzed with respect to the temporal evolution of the static stability above the tropopause. The results suggest that radiative effects, especially from water vapor, have the largest additional contribution to the TIL formation, while additional individual effects of cloud microphysics are almost negligible. STE occurs in all diabatic simulations but its strength depends highly on how the underlying diabatic process can affect the thermal and dynamical structure in the tropopause region. Weak STE is found when considering cloud microphysics, while STE is stronger in case of using turbulence and radiation. Tropopause-based vertical profiles of the tropospheric tracers show in some cases similarities with observed tracer profiles of CO.

  5. The Role of Affective and Cognitive Individual Differences in Social Perception.

    PubMed

    Aquino, Antonio; Haddock, Geoffrey; Maio, Gregory R; Wolf, Lukas J; Alparone, Francesca R

    2016-06-01

    Three studies explored the connection between social perception processes and individual differences in the use of affective and cognitive information in relation to attitudes. Study 1 revealed that individuals high in need for affect (NFA) accentuated differences in evaluations of warm and cold traits, whereas individuals high in need for cognition (NFC) accentuated differences in evaluations of competent and incompetent traits. Study 2 revealed that individual differences in NFA predicted liking of warm or cold targets, whereas individual differences in NFC predicted perceptions of competent or incompetent targets. Furthermore, the effects of NFA and NFC were independent of structural bases and meta-bases of attitudes. Study 3 revealed that differences in the evaluation of warm and cold traits mediated the effects of NFA and NFC on liking of targets. The implications for social perception processes and for individual differences in affect-cognition are discussed. © 2016 by the Society for Personality and Social Psychology, Inc.

  6. 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.

  7. Water-quality characteristics in runoff for three discovery farms in North Dakota, 2008-12

    USGS Publications Warehouse

    Nustad, Rochelle A.; Rowland, Kathleen M.; Wiederholt, Ronald

    2015-01-01

    Consistent patterns in water quality emerged at each individual farm, but similarities among farms also were observed. Suspended sediment, total phosphorus, and ammonia concentrations generally decreased downstream from feeding areas, and were primarily affected by surface runoff processes such as dilution, settling out of sediment, or vegetative uptake. Because surface runoff affects these constituents, increased annual surface runoff volume tended to result in increased loads and yields. No significant change in nitrate plus nitrite concentration were observed downstream from feeding areas because additional processes such as high solubility, nitrification, denitrification, and surface-groundwater interaction affect nitrate plus nitrite. For nitrate plus nitrite, increases in annual runoff volume did not consistently relate to increases in annual loads and yields. It seems that temporal distribution of precipitation and surface-groundwater interaction affected nitrate plus nitrite loads and yields. For surface drainage sites, the primary form of nitrogen was organic nitrogen whereas for subsurface drainage sites, the primary form of nitrogen was nitrate plus nitrite nitrogen.

  8. Generalization of Associations of Kidney-Related Genetic Loci to American Indians

    PubMed Central

    Haack, Karin; Almasy, Laura; Laston, Sandra; Lee, Elisa T.; Best, Lyle G.; Fabsitz, Richard R.; MacCluer, Jean W.; Howard, Barbara V.; Umans, Jason G.; Cole, Shelley A.

    2014-01-01

    Summary Background and objectives CKD disproportionally affects American Indians, who similar to other populations, show genetic susceptibility to kidney outcomes. Recent studies have identified several loci associated with kidney traits, but their relevance in American Indians is unknown. Design, setting, participants, & measurements This study used data from a large, family-based genetic study of American Indians (the Strong Heart Family Study), which includes 94 multigenerational families enrolled from communities located in Oklahoma, the Dakotas, and Arizona. Individuals were recruited from the Strong Heart Study, a population-based study of cardiovascular disease in American Indians. This study selected 25 single nucleotide polymorphisms in 23 loci identified from recently published kidney-related genome-wide association studies in individuals of European ancestry to evaluate their associations with kidney function (estimated GFR; individuals 18 years or older, up to 3282 individuals) and albuminuria (urinary albumin to creatinine ratio; n=3552) in the Strong Heart Family Study. This study also examined the association of single nucleotide polymorphisms in the APOL1 region with estimated GFR in 1121 Strong Heart Family Study participants. GFR was estimated using the abbreviated Modification of Diet in Renal Disease Equation. Additive genetic models adjusted for age and sex were used. Results This study identified significant associations of single nucleotide polymorphisms with estimated GFR in or nearby PRKAG2, SLC6A13, UBE2Q2, PIP5K1B, and WDR72 (P<2.1 × 10-3 to account for multiple testing). Single nucleotide polymorphisms in these loci explained 2.2% of the estimated GFR total variance and 2.9% of its heritability. An intronic variant of BCAS3 was significantly associated with urinary albumin to creatinine ratio. APOL1 single nucleotide polymorphisms were not associated with estimated GFR in a single variant test or haplotype analyses, and the at-risk variants identified in individuals with African ancestry were not detected in DNA sequencing of American Indians. Conclusion This study extends the genetic associations of loci affecting kidney function to American Indians, a population at high risk of kidney disease, and provides additional support for a potential biologic relevance of these loci across ancestries. PMID:24311711

  9. The influence of affective and cognitive arguments on message judgement and attitude change: The moderating effects of meta-bases and structural bases.

    PubMed

    Keer, Mario; van den Putte, Bas; Neijens, Peter; de Wit, John

    2013-01-01

    This study investigated whether the efficacy of affective vs. cognitive persuasive messages was moderated by (1) individuals' subjective assessments of whether their attitudes were based on affect or cognition (i.e. meta-bases) and (2) the degree individuals' attitudes were correlated with affect and cognition (i.e. structural bases). Participants (N = 97) were randomly exposed to a message containing either affective or cognitive arguments discouraging binge drinking. The results demonstrated that meta-bases and not structural bases moderated the influence of argument type on message judgement. Affective (cognitive) messages were judged more positively when individuals' meta-bases were more affective (cognitive). In contrast, structural bases and not meta-bases moderated the influence of argument type on attitude and intention change following exposure to the message. Surprisingly, change was greater among individuals who read a message that mismatched their structural attitude base. Affective messages were more effective as attitudes were more cognition-based, and vice versa. Thus, although individuals prefer messages that match their meta-base, attitude and intention change regarding binge drinking are best established by mismatching their structural base.

  10. 45 CFR 261.16 - Does the imposition of a penalty affect an individual's work requirement?

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... OF HEALTH AND HUMAN SERVICES ENSURING THAT RECIPIENTS WORK What Are the Provisions Addressing Individual Responsibility? § 261.16 Does the imposition of a penalty affect an individual's work requirement... 45 Public Welfare 2 2010-10-01 2010-10-01 false Does the imposition of a penalty affect an...

  11. An overview of the etiology, diagnosis, and treatment of Alzheimer disease.

    PubMed

    Forsyth, E; Ritzline, P D

    1998-12-01

    Alzheimer disease (AD) is the most common form of dementia affecting elderly people. It is the fourth leading cause of death among adults in the United States, following heart disease, cancer, and stroke. The prevalence of AD increases with increasing age. An estimated 10% of people aged 65 years have this progressive, degenerative disease, and this percentage increases to 47.2% for people aged 85 years and older. An early-onset form of AD can affect individuals who are middle-aged, with the youngest documented case being that of a 28-year-old. In the Framingham cohort, women with AD outnumbered men by a ratio of 2.8:1 for those aged 75 years or older. Undoubtedly, as our population continues to age, the increasing prevalence of AD will have an even greater impact on society than it does today. Approximately 4 million Americans have AD, and it is projected that the number will rise to 14 million by the middle of the next century. The financial impact of AD is staggering, with the average lifetime cost for an individual with AD exceeding $170,000. Although the majority of individuals with AD are cared for by family and friends at home, individuals with AD constitute half of all nursing home residents. The average cost of a year of nursing home care for an individual with AD is $42,000, and this cost can exceed $70,000. The purpose of this article is to provide an overview of the etiology of AD, the tools used in the diagnosis of AD, and the treatment of individuals with AD. In addition, the clinical presentation of the various stages of AD is described, and the psychosocial implications of this disease are discussed.

  12. Evolution of cooperation driven by social-welfare-based migration

    NASA Astrophysics Data System (ADS)

    Li, Yan; Ye, Hang; Zhang, Hong

    2016-03-01

    Individuals' migration behavior may play a significant role in the evolution of cooperation. In reality, individuals' migration behavior may depend on their perceptions of social welfare. To study the relationship between social-welfare-based migration and the evolution of cooperation, we consider an evolutionary prisoner's dilemma game (PDG) in which an individual's migration depends on social welfare but not on the individual's own payoff. By introducing three important social welfare functions (SWFs) that are commonly studied in social science, we find that social-welfare-based migration can promote cooperation under a wide range of parameter values. In addition, these three SWFs have different effects on cooperation, especially through the different spatial patterns formed by migration. Because the relative efficiency of the three SWFs will change if the parameter values are changed, we cannot determine which SWF is optimal for supporting cooperation. We also show that memory capacity, which is needed to evaluate individual welfare, may affect cooperation levels in opposite directions under different SWFs. Our work should be helpful for understanding the evolution of human cooperation and bridging the chasm between studies of social preferences and studies of social cooperation.

  13. Implicit motives and basic need satisfaction in extreme endurance sports.

    PubMed

    Schüler, Julia; Wegner, Mirko; Knechtle, Beat

    2014-06-01

    Previous research has shown that the effects of basic psychological needs on the flow experience in sports are moderated by implicit motives. However, so far, only leisure and health-oriented sports have been analyzed. In a pilot study and a main study (N = 29, 93), we tested whether the implicit achievement and affiliation motives interact with the need for competence and the need for social relatedness satisfaction, respectively, to predict flow experience and well-being in extreme endurance athletes. Results showed that highly achievement-motivated individuals benefited more from the need for competence satisfaction in terms of flow than individuals with a low achievement motive did. In addition, highly affiliation-motivated individuals whose need for social relatedness is satisfied reported higher positive affect and lower exercise addiction scores than athletes with a low motive. We discuss the differential effects of the interplay between the achievement and affiliation motives and basic needs on different outcome variables.

  14. Music and video as distractors for boys with ADHD in the classroom: comparison with controls, individual differences, and medication effects.

    PubMed

    Pelham, William E; Waschbusch, Daniel A; Hoza, Betsy; Gnagy, Elizabeth M; Greiner, Andrew R; Sams, Susan E; Vallano, Gary; Majumdar, Antara; Carter, Randy L

    2011-11-01

    This study examined the effects of music and video on the classroom behavior and performance of boys with and without attention deficit hyperactivity disorder (ADHD) and examined the effects of 0.3 mg/kg methylphenidate (MPH). In one study, 41 boys with ADHD and 26 controls worked in the presence of no distractor, music, or video. Video produced significant distraction, particularly for the boys with ADHD, and MPH improved the performance of boys with ADHD across distractor conditions.There were individual differences in response to the music such that some boys were adversely affected and others benefited relative to no-distractor.In a second study, music and MPH were assessed in an additional 86 boys with ADHD to examine further the music results. In the presence or absence of music, MPH improved performance relative to placebo. Similar individual differences were found as in Experiment 1.

  15. Functional imaging of conditioned aversive emotional responses in antisocial personality disorder.

    PubMed

    Schneider, F; Habel, U; Kessler, C; Posse, S; Grodd, W; Müller-Gärtner, H W

    2000-01-01

    Individuals with antisocial personality disorder (n = 12) and healthy controls (n = 12) were examined for cerebral regional activation involved in the processing of negative affect. A differential aversive classical conditioning paradigm was applied with odors as unconditioned stimuli and faces as conditioned stimuli. Functional magnetic resonance imaging (fMRI) based on echo-planar imaging was used while cerebral activity was studied during habituation, acquisition, and extinction. Individually defined cerebral regions were analyzed. Both groups indicated behavioral conditioning following subjective ratings of emotional valence to conditioned stimuli. Differential effects were found during acquisition in the amygdala and dorsolateral prefrontal cortex. Controls showed signal decreases, patients signal increases. These preliminary results revealed unexpected signal increases in cortical/subcortical areas of patients. The increases may result from an additional effort put in by these individuals to form negative emotional associations, a pattern of processing that may correspond to their characteristic deviant emotional behavior. Copyright 2000 S. Karger AG, Basel.

  16. Fluoxetine treatment is effective in a rat model of childhood-induced post-traumatic stress disorder.

    PubMed

    Ariel, Lior; Inbar, Sapir; Edut, Schachaf; Richter-Levin, Gal

    2017-11-30

    Although selective serotonin reuptake inhibitors (SSRIs) are first-line treatment for post-traumatic stress disorder (PTSD) patients, their therapeutic efficacy is limited. Childhood adversities are considered a risk factor for developing PTSD in adulthood but may trigger PTSD without additional trauma in some individuals. Nevertheless, just as childhood is considered a vulnerable period it may also be an effective period for preventive treatment. Using a rat model of childhood-induced PTSD, pre-pubertal stress (juvenile stress, JVS), we compared the therapeutic effects of fluoxetine and examined the effectiveness of 1 month of fluoxetine treatment following JVS and into adulthood compared to treatment in adulthood. Since not all individuals develop PTSD following a trauma, comparing only group means is not the adequate type of analysis. We employed a behavioral profiling approach, which analyzes individual differences compared to the normal behavior of a control group. Animals exposed to JVS exhibited a higher proportion of affected animals as measured using the elevated plus maze 8 weeks after JVS. Fluoxetine treatment following the JVS significantly decreased the proportion of affected animals as measured in adulthood. Fluoxetine treatment in adulthood was not effective. The results support the notion that childhood is not only a vulnerable period but also an effective period for preventive treatment.

  17. Testing the use of juvenile Salmo trutta L. as biomonitors of heavy metal pollution in freshwater.

    PubMed

    Lamas, S; Fernández, J A; Aboal, J R; Carballeira, A

    2007-02-01

    Individual specimens of Salmo trutta were captured, from four sampling sites in Galician rivers (NW Spain) affected by different types of contamination: diffuse urban waste, run-off from an unrestored dump at a copper mine and waste from a fish farm. The ages of the captured trouts were established and only those belonging to the 1+ age class were selected for study. The liver and kidney were removed from each fish and analysed to determine the tissue concentrations of Cu, Fe and Zn. The results obtained showed that: (i) the use of 1+ individuals allowed differentiation of contamination scenarios on the basis of the tissue concentrations of metal; (ii) the use of 1+ individuals allowed standardization of the time of exposure, which was sufficiently long for differential uptake to have taken place; (iii) liver tissue provided the best results as, less effort was required than for processing kidney tissue, and significant differences between sampling sites were detected because the intrapopulational variability in metal levels was lower than for kidney, and (iv) the levels of elements detected were not affected by basal tissue concentrations or residual concentrations due to past contamination, which older trouts may have been exposed to. In addition, the use of 1+ trout may provide better results in annual environmental sampling surveys.

  18. Cortical and Sensory Causes of Individual Differences in Selective Attention Ability Among Listeners With Normal Hearing Thresholds.

    PubMed

    Shinn-Cunningham, Barbara

    2017-10-17

    This review provides clinicians with an overview of recent findings relevant to understanding why listeners with normal hearing thresholds (NHTs) sometimes suffer from communication difficulties in noisy settings. The results from neuroscience and psychoacoustics are reviewed. In noisy settings, listeners focus their attention by engaging cortical brain networks to suppress unimportant sounds; they then can analyze and understand an important sound, such as speech, amidst competing sounds. Differences in the efficacy of top-down control of attention can affect communication abilities. In addition, subclinical deficits in sensory fidelity can disrupt the ability to perceptually segregate sound sources, interfering with selective attention, even in listeners with NHTs. Studies of variability in control of attention and in sensory coding fidelity may help to isolate and identify some of the causes of communication disorders in individuals presenting at the clinic with "normal hearing." How well an individual with NHTs can understand speech amidst competing sounds depends not only on the sound being audible but also on the integrity of cortical control networks and the fidelity of the representation of suprathreshold sound. Understanding the root cause of difficulties experienced by listeners with NHTs ultimately can lead to new, targeted interventions that address specific deficits affecting communication in noise. http://cred.pubs.asha.org/article.aspx?articleid=2601617.

  19. Conflict resolution patterns and violence perpetration in adolescent couples: A gender-sensitive mixed-methods approach.

    PubMed

    Fernet, Mylène; Hébert, Martine; Paradis, Alison

    2016-06-01

    This study used a sequential two-phase explanatory design. The first phase of this mixed-methods design aimed to explore conflict resolution strategies in adolescent dating couples, and the second phase to document, from both the perspective of the individual and of the couple, dyadic interaction patterns distinguishing youth inflicting dating violence from those who do not. A sample of 39 heterosexual couples (mean age 17.8 years) participated in semi-structured interviews and were observed during a 45 min dyadic interaction. At phase 1, qualitative analysis revealed three main types of conflict resolution strategies: 1) negotiating expectations and individual needs; 2) avoiding conflicts or their resolution; 3) imposing personal needs and rules through the use of violence. At phase 2, we focused on couples with conflictive patterns. Results indicate that couples who inflict violence differ from nonviolent couples by their tendency to experience conflicts when in disagreement and to resort to negative affects as a resolution strategy. In addition, while at an individual level, they show a tendency to withdraw from conflict and to use less positive affect, at a dyadic level they present less symmetry. Results offer important insights for prevention programs. Copyright © 2016. Published by Elsevier Ltd.

  20. Manual lateralization in macaques: handedness, target laterality and task complexity.

    PubMed

    Regaiolli, Barbara; Spiezio, Caterina; Vallortigara, Giorgio

    2016-01-01

    Non-human primates represent models to understand the evolution of handedness in humans. Despite several researches have been investigating non-human primates handedness, few studies examined the relationship between target position, hand preference and task complexity. This study aimed at investigating macaque handedness in relation to target laterality and tastiness, as well as task complexity. Seven pig-tailed macaques (Macaca nemestrina) were involved in three different "two alternative choice" tests: one low-level task and two high-level tasks (HLTs). During the first and the third tests macaques could select a preferred food and a non-preferred food, whereas by modifying the design of the second test, macaques were presented with no-difference alternative per trial. Furthermore, a simple-reaching test was administered to assess hand preference in a social context. Macaques showed hand preference at individual level both in simple and complex tasks, but not in the simple-reaching test. Moreover, target position seemed to affect hand preference in retrieving an object in the low-level task, but not in the HLT. Additionally, individual hand preference seemed to be affected from the tastiness of the item to be retrieved. The results suggest that both target laterality and individual motivation might influence hand preference of macaques, especially in simple tasks.

  1. Power analysis of QTL detection in half-sib families using selective DNA pooling

    PubMed Central

    Baro, Jesús Á; Carleos, Carlos; Corral, Norberto; López, Teresa; Cañón, Javier

    2001-01-01

    Individual loci of economic importance (QTL) can be detected by comparing the inheritance of a trait and the inheritance of loci with alleles readily identifiable by laboratory methods (genetic markers). Data on allele segregation at the individual level are costly and alternatives have been proposed that make use of allele frequencies among progeny, rather than individual genotypes. Among the factors that may affect the power of the set up, the most important are those intrinsic to the QTL: the additive effect of the QTL, and its dominance, and distance between markers and QTL. Other factors are relative to the choice of animals and markers, such as the frequency of the QTL and marker alleles among dams and sires. Data collection may affect the detection power through the size of half-sib families, selection rate within families, and the technical error incurred when estimating genetic frequencies. We present results for a sensitivity analysis for QTL detection using pools of DNA from selected half-sibs. Simulations showed that conclusive detection may be achieved with families of at least 500 half-sibs if sires are chosen on the criteria that most of their marker alleles are either both missing, or one is fixed, among dams. PMID:11403746

  2. The role of molecular imaging in diagnosis of deep vein thrombosis

    PubMed Central

    Houshmand, Sina; Salavati, Ali; Hess, Søren; Ravina, Mudalsha; Alavi, Abass

    2014-01-01

    Venous thromboembolism (VTE) mostly presenting as deep venous thrombosis (DVT) and pulmonary embolism (PE) affects up to 600,000 individuals in United States each year. Clinical symptoms of VTE are nonspecific and sometimes misleading. Additionally, side effects of available treatment plans for DVT are significant. Therefore, medical imaging plays a crucial role in proper diagnosis and avoidance from over/under diagnosis, which exposes the patient to risk. In addition to conventional structural imaging modalities, such as ultrasonography and computed tomography, molecular imaging with different tracers have been studied for diagnosis of DVT. In this review we will discuss currently available and newly evolving targets and tracers for detection of DVT using molecular imaging methods. PMID:25143860

  3. Resistance Training Reduces Force Tremor and Improves Manual Dexterity in Older Individuals With Essential Tremor.

    PubMed

    Kavanagh, Justin J; Wedderburn-Bisshop, Jacob; Keogh, Justin W L

    2016-01-01

    Although symptoms of Essential Tremor (ET) are typically controlled with medication, it is of interest to explore additional therapies to assist with functionality. The purpose of this study was to determine if a generalized upper limb resistance training (RT) program improves manual dexterity and reduces force tremor in older individuals with ET. Ten Essential Tremor and 9 controls were recruited into a dual group, pretest-posttest intervention study. Participants performed 6 weeks of upper-limb RT, and battery of manual dexterity and isometric force tremor assessments were performed before and after the RT to determine the benefits of the program. The six-week, high-load, RT program produced strength increases in each limb for the ET and healthy older group. These changes in strength aligned with improvements in manual dexterity and tremor-most notably for the ET group. The least affected limb and the most affected limb exhibited similar improvements in functional assessments of manual dexterity, whereas reductions in force tremor amplitude following the RT program were restricted to the most affected limb of the ET group. These findings suggest that generalized upper limb RT program has the potential to improve aspects of manual dexterity and reduce force tremor in older ET patients.

  4. Caregiver Perspectives of Stigma Associated With Sickle Cell Disease in Adolescents.

    PubMed

    Wesley, Kimberly M; Zhao, Mimi; Carroll, Yvonne; Porter, Jerlym S

    2016-01-01

    Patients and families affected by various medical conditions report experiencing health-related stigma, which contributes to detrimental physical, psychological, and social outcomes. Sickle cell disease (SCD) is a genetic disorder that affects 89,000 individuals in the United States and is often associated with negative stereotypes and incorrect assumptions. The present study explored the perception of stigma as reported by caregivers of adolescents with SCD. Focus groups were conducted with 20 caregivers of patients with SCD. Focus groups were audio recorded and transcribed. The data were coded independently by two authors, and then reviewed conjointly until consensus was reached. Caregivers reported the perception of stigma in academic, medical, community, and family settings. They also reported internalized stigma including negative feelings toward having a child with SCD, feeling upset with others, and seeing negative emotions in their child due to SCD. Caregivers reported a general lack of knowledge about SCD across settings. These results demonstrated that stigma may affect individuals with SCD across multiple settings. These results also highlighted areas for intervention, with a focus on increasing communication and education toward medical providers, schools, and communities. Interventions can utilize technology, social media, and advertisement campaigns. Additionally, support groups for patients with SCD may help decrease stigma and validate patients' experiences. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Mind the First Step: The Intrapersonal Effects of Affect on the Decision to Initiate Negotiations under Bargaining Power Asymmetry

    PubMed Central

    Kapoutsis, Ilias; Volkema, Roger; Lampaki, Antonia

    2017-01-01

    We undertook two vignette studies to examine the role of affect (trait and state) and bargaining power on initiating negotiations, an often overlooked stage of the negotiation process. Using a job negotiation opportunity, we examine three distinct phases of the initiation process—engaging a counterpart, making a request, and optimizing a request. Study 1 examines the effects of two affect dispositions (happiness and sadness), under power asymmetry (low vs. high bargaining power), on the three initiation behaviors. We found that power is pivotal to the decision to engage, request, and optimize. Also, sadness reduces the likelihood of initiation when power is high but is immaterial when power is low. In contrast, individuals who tend to be happy can reverse the adverse effect of powerlessness on requesting, but not on engaging and optimizing. However, happiness does not carry over a positive effect on negotiation initiation, over and above that of power. Study 2 investigated the role of trait affect when individuals are in power asymmetry and when they are induced with sadness or happiness. We found that those with a happy disposition initiate more (engage, request, and optimize) when power is high and experience incidental sadness. Overall, these findings qualify previous research on negotiation initiation and highlight the importance of trait affect and its interaction with state affect as additional driving forces and of power as a boundary condition. “for the error occurs at the beginning, and the beginning as the proverb says is half of the whole, so that even a small mistake at the beginning stands in the same ratio to mistakes at the other stages.” (trans. Aristotle, 1944, 1303b) PMID:28824496

  6. Mind the First Step: The Intrapersonal Effects of Affect on the Decision to Initiate Negotiations under Bargaining Power Asymmetry.

    PubMed

    Kapoutsis, Ilias; Volkema, Roger; Lampaki, Antonia

    2017-01-01

    We undertook two vignette studies to examine the role of affect (trait and state) and bargaining power on initiating negotiations, an often overlooked stage of the negotiation process. Using a job negotiation opportunity, we examine three distinct phases of the initiation process-engaging a counterpart, making a request, and optimizing a request. Study 1 examines the effects of two affect dispositions (happiness and sadness), under power asymmetry (low vs. high bargaining power), on the three initiation behaviors. We found that power is pivotal to the decision to engage, request, and optimize. Also, sadness reduces the likelihood of initiation when power is high but is immaterial when power is low. In contrast, individuals who tend to be happy can reverse the adverse effect of powerlessness on requesting, but not on engaging and optimizing. However, happiness does not carry over a positive effect on negotiation initiation, over and above that of power. Study 2 investigated the role of trait affect when individuals are in power asymmetry and when they are induced with sadness or happiness. We found that those with a happy disposition initiate more (engage, request, and optimize) when power is high and experience incidental sadness. Overall, these findings qualify previous research on negotiation initiation and highlight the importance of trait affect and its interaction with state affect as additional driving forces and of power as a boundary condition. " for the error occurs at the beginning, and the beginning as the proverb says is half of the whole, so that even a small mistake at the beginning stands in the same ratio to mistakes at the other stages. " (trans. Aristotle, 1944 , 1303b) .

  7. The effects of corporate social responsibility on employees' affective commitment: a cross-cultural investigation.

    PubMed

    Mueller, Karsten; Hattrup, Kate; Spiess, Sven-Oliver; Lin-Hi, Nick

    2012-11-01

    This study investigated the moderating effects of several Global Leadership and Organizational Behavior Effectiveness (GLOBE) cultural value dimensions on the relationship between employees' perceptions of their organization's social responsibility and their affective organizational commitment. Based on data from a sample of 1,084 employees from 17 countries, results showed that perceived corporate social responsibility (CSR) was positively related to employees' affective commitment (AC), after controlling for individual job satisfaction and gender as well as for nation-level differences in unemployment rates. In addition, several GLOBE value dimensions moderated the effects of CSR on AC. In particular, perceptions of CSR were more positively related to AC in cultures higher in humane orientation, institutional collectivism, ingroup collectivism, and future orientation and in cultures lower in power distance. Implications for future CSR research and cross-cultural human resources management are discussed. (c) 2012 APA, all rights reserved.

  8. A Positive Affective Neuroendocrinology Approach to Reward and Behavioral Dysregulation

    PubMed Central

    Welker, Keith M.; Gruber, June; Mehta, Pranjal H.

    2015-01-01

    Emerging lines of research suggest that both testosterone and maladaptive reward processing can modulate behavioral dysregulation. Yet, to date, no integrative account has been provided that systematically explains neuroendocrine function, dysregulation of reward, and behavioral dysregulation in a unified perspective. This is particularly important given specific neuroendocrine systems are potential mechanisms underlying and giving rise to reward-relevant behaviors. In this review, we propose a forward-thinking approach to study the mechanisms of reward and behavioral dysregulation from a positive affective neuroendocrinology (PANE) perspective. This approach holds that testosterone increases reward processing and motivation, which increase the likelihood of behavioral dysregulation. Additionally, the PANE framework holds that reward processing mediates the effects of testosterone on behavioral dysregulation. We also explore sources of potential sex differences and the roles of age, cortisol, and individual differences within the PANE framework. Finally, we discuss future prospects for research questions and methodology in the emerging field of affective neuroendocrinology. PMID:26191007

  9. Smoking at the workplace: Effects of genetic and environmental causal accounts on attitudes towards smoking employees and restrictive policies

    PubMed Central

    Dar-Nimrod, Ilan; Zuckerman, Miron; Duberstein, Paul

    2014-01-01

    People hold diverse beliefs regarding the etiologies of individual and group differences in behaviors which, in turn, might affect their attitudes and behaviors. It is important to establish how perceived etiologies for smoking might affect the effectiveness of policy initiatives and prevention efforts. The present study assessed whether exposure to genetic vs. environmental accounts for smoking affects attitudes towards a) workplace-related smoking policies and b) smokers at the workplace. Results indicate that exposure to a genetic explanation led to stronger objections to a smoking restrictive policy compared with a non-genetic explanation. Additionally, participants in the genetic condition were more accepting of a smoker in the workplace than in the environmental condition. Evidently, beliefs about the etiology of smoking influence a range of attitudes related to smokers and smoking related policies. PMID:25530710

  10. Negative affect as a mediator of the relationship between vigorous-intensity exercise and smoking.

    PubMed

    Tart, Candyce D; Leyro, Teresa M; Richter, Ashley; Zvolensky, Michael J; Rosenfield, David; Smits, Jasper A J

    2010-06-01

    The present cross-sectional study evaluated whether people who engage in vigorous-intensity exercise are better able to regulate negative affective states, thereby changing core maintenance factors of smoking. Participants were a community sample of adults (n = 270) who completed self-report measures of physical activity, cigarette smoking, anxiety sensitivity, and negative affect. Consistent with hypothesis, vigorous-intensity exercise was related to lower levels of cigarette smoking, accounting for 10% of the variance in smoking. Additionally, negative affect mediated the relationship between vigorous-intensity physical activity and cigarette smoking, accounting for about 12% of this relation. Furthermore, these relationships were stronger for individuals with high anxiety sensitivity than for those with low anxiety sensitivity; including anxiety sensitivity as a moderator of the mediated relationship increased the amount of variance accounted for by negative affect to 17%. The findings are discussed in relation to developing further scientific insight into the mechanisms and pathways relevant to understanding the association among vigorous-intensity exercise, smoking, and emotional vulnerability. Copyright 2010 Elsevier Ltd. All rights reserved.

  11. EEG Responses to Auditory Stimuli for Automatic Affect Recognition

    PubMed Central

    Hettich, Dirk T.; Bolinger, Elaina; Matuz, Tamara; Birbaumer, Niels; Rosenstiel, Wolfgang; Spüler, Martin

    2016-01-01

    Brain state classification for communication and control has been well established in the area of brain-computer interfaces over the last decades. Recently, the passive and automatic extraction of additional information regarding the psychological state of users from neurophysiological signals has gained increased attention in the interdisciplinary field of affective computing. We investigated how well specific emotional reactions, induced by auditory stimuli, can be detected in EEG recordings. We introduce an auditory emotion induction paradigm based on the International Affective Digitized Sounds 2nd Edition (IADS-2) database also suitable for disabled individuals. Stimuli are grouped in three valence categories: unpleasant, neutral, and pleasant. Significant differences in time domain domain event-related potentials are found in the electroencephalogram (EEG) between unpleasant and neutral, as well as pleasant and neutral conditions over midline electrodes. Time domain data were classified in three binary classification problems using a linear support vector machine (SVM) classifier. We discuss three classification performance measures in the context of affective computing and outline some strategies for conducting and reporting affect classification studies. PMID:27375410

  12. Altered auditory and vestibular functioning in individuals with low bone mineral density: a systematic review.

    PubMed

    Singh, Niraj Kumar; Jha, Raghav Hira; Gargeshwari, Aditi; Kumar, Prawin

    2018-01-01

    Alteration in the process of bone remodelling is associated with falls and fractures due to increased bone fragility and altered calcium functioning. The auditory system consists of skeletal structures and is, therefore, prone to getting affected by altered bone remodelling. In addition, the vestibule consists of huge volumes of calcium (CaCO3) in the form of otoconia crystals and alteration in functioning calcium levels could, therefore, result in vestibular symptoms. Thus, the present study aimed at compiling information from various studies on assessment of auditory or vestibular systems in individuals with reduced bone mineral density (BMD). A total of 1977 articles were searched using various databases and 19 full-length articles which reported auditory and vestibular outcomes in persons with low BMD were reviewed. An intricate relationship between altered BMD and audio-vestibular function was evident from the studies; nonetheless, how one aspect of hearing or balance affects the other is not clear. Significant effect of reduced bone mineral density could probably be due to the metabolic changes at the level of cochlea, secondary to alterations in BMD. One could also conclude that sympathetic remodelling is associated with vestibular problems in individual; however, whether vestibular problems lead to altered BMD cannot be ascertained with confidence. The studies reviewed in the article provide an evidence of possible involvement of hearing and vestibular system abnormalities in individuals with reduced bone mineral density. Hence, the assessment protocol for these individuals must include hearing and balance evaluation as mandatory for planning appropriate management.

  13. Exploring the Role of Social Media and Individual Behaviors in Flood Evacuation Processes: An Agent-Based Modeling Approach

    NASA Astrophysics Data System (ADS)

    Du, Erhu; Cai, Ximing; Sun, Zhiyong; Minsker, Barbara

    2017-11-01

    Flood warnings from various information sources are important for individuals to make evacuation decisions during a flood event. In this study, we develop a general opinion dynamics model to simulate how individuals update their flood hazard awareness when exposed to multiple information sources, including global broadcast, social media, and observations of neighbors' actions. The opinion dynamics model is coupled with a traffic model to simulate the evacuation processes of a residential community with a given transportation network. Through various scenarios, we investigate how social media affect the opinion dynamics and evacuation processes. We find that stronger social media can make evacuation processes more sensitive to the change of global broadcast and neighbor observations, and thus, impose larger uncertainty on evacuation rates (i.e., a large range of evacuation rates corresponding to sources of information). For instance, evacuation rates are lower when social media become more influential and individuals have less trust in global broadcast. Stubborn individuals can significantly affect the opinion dynamics and reduce evacuation rates. In addition, evacuation rates respond to the percentage of stubborn agents in a nonlinear manner, i.e., above a threshold, the impact of stubborn agents will be intensified by stronger social media. These results highlight the role of social media in flood evacuation processes and the need to monitor social media so that misinformation can be corrected in a timely manner. The joint impacts of social media, quality of flood warnings, and transportation capacity on evacuation rates are also discussed.

  14. Stability and change of personality traits, self-esteem, and well-being: Introducing the meta-analytic stability and change model of retest correlations.

    PubMed

    Anusic, Ivana; Schimmack, Ulrich

    2016-05-01

    The stability of individual differences is a fundamental issue in personality psychology. Although accumulating evidence suggests that many psychological attributes are both stable and change over time, existing research rarely takes advantage of theoretical models that capture both stability and change. In this article, we present the Meta-Analytic Stability and Change model (MASC), a novel meta-analytic model for synthesizing data from longitudinal studies. MASC is based on trait-state models that can separate influences of stable and changing factors from unreliable variance (Kenny & Zautra, 1995). We used MASC to evaluate the extent to which personality traits, life satisfaction, affect, and self-esteem are influenced by these different factors. The results showed that the majority of reliable variance in personality traits is attributable to stable influences (83%). Changing factors had a greater influence on reliable variance in life satisfaction, self-esteem, and affect than in personality (42%-56% vs. 17%). In addition, changing influences on well-being were more stable than changing influences on personality traits, suggesting that different changing factors contribute to personality and well-being. Measures of affect were less reliable than measures of the other 3 constructs, reflecting influences of transient factors, such as mood on affective judgments. After accounting for differences in reliability, stability of affect did not differ from other well-being variables. Consistent with previous research, we found that stability of individual differences increases with age. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  15. Affective temperaments in anorexia nervosa: The relevance of depressive and anxious traits.

    PubMed

    Marzola, Enrica; Fassino, Secondo; Amianto, Federico; Abbate-Daga, Giovanni

    2017-08-15

    Affective temperaments have been so far understudied in anorexia nervosa (AN) despite the relevance of personality and both affective and anxious comorbidity with regard to vulnerability, course, and outcome of this deadly disorder. Ninety-eight female inpatients diagnosed with AN and 131 healthy controls (HCs) were enrolled in this study and completed the Temperament Evaluation of Memphis, Pisa, Paris and San Diego Autoquestionnaire (TEMPS-A) in addition to assessments of eating psychopathology, depression, and anxiety. AN patients and HCs differed in all affective temperaments. The diagnostic subtypes of AN differed as well with binge-purging individuals being more cyclothymic and anxious than those with restricting-type AN. TEMPS-A scores correlated with body mass index and eating psychopathology but not with duration of illness. Concerning comorbidity, grater scores on the depressive and lower scores on the hyperthymic temperaments were found in depressed patients. Those who had either an anxious or irritable temperament were significantly more diagnosed with an anxious disorder than those who did not show this temperament. When logistic regression was performed, high depressive/low hyperthymic and high irritable/anxious traits resulted to be associated with depressive and anxious comorbidity, respectively, independently of confounding factors. Cross-sectional design, some patients on medications, few baseline clinical differences between diagnostic subtypes, no other personality assessments. An affective continuum strongly associated with mood and anxious comorbidity emerged in AN. Such an evaluation could have several research and clinical implications given the need of improving treatment individualization and early interventions for such a complex disorder. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Motivations for self-injury, affect, and impulsivity: a comparison of individuals with current self-injury to individuals with a history of self-injury.

    PubMed

    Taylor, Julia; Peterson, Claire M; Fischer, Sarah

    2012-12-01

    Individuals who report nonsuicidal self-injury (NSSI) are characterized by the tendency to act rashly while experiencing distress (negative urgency), the tendency to act without thinking, and endorsement of both social and affect regulation motives for the behavior. However, very little research has identified characteristics that distinguish current self-injurers from those with a history of the behavior. The purpose of this study was to compare individuals with current self-injury to a history of self-injury on impulsivity-related personality traits, motives for self-injury, and distress. Among a sample of 429 undergraduates, 120 reported self-injury. Among these 120 individuals, 33 endorsed self-injury within the past month, with a mean frequency of 4.77 acts of NSSI. Within the self-injury group, current self-injurers reported higher endorsement of affect regulation motives for NSSI, and higher levels of current negative affect than individuals with a history of self-injury. There were no differences between current and former self-injurers on measures of impulsivity, endorsement of social motives for NSSI, or positive affect. We propose that individuals who use NSSI to regulate negative affect may be more likely to repeatedly engage in this behavior over time. © 2012 The American Association of Suicidology.

  17. Set-fit effects in choice.

    PubMed

    Evers, Ellen R K; Inbar, Yoel; Zeelenberg, Marcel

    2014-04-01

    In 4 experiments, we investigate how the "fit" of an item with a set of similar items affects choice. We find that people have a notion of a set that "fits" together--one where all items are the same, or all items differ, on salient attributes. One consequence of this notion is that in addition to preferences over the set's individual items, choice reflects set-fit. This leads to predictable shifts in preferences, sometimes even resulting in people choosing normatively inferior options over superior ones.

  18. Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?

    PubMed

    Hunter, A G; Jimenez, C; Tawagi, F G

    1991-11-01

    Ivemark et al. first described sibs with renal-hepatic-pancreatic dysplasia (RHPD) (Ivemark BI, Oldfelt V, Zetterström R (1959): Acta Pediatr Scand 48: 1-11). Subsequent reports of affected individuals have described additional malformations and syndromes associated with RHPD. In this paper we describe 2 sibs with RHPD in association with Dandy-Walker cyst (DW). Through an examination of the pattern of associated malformations seen in RHPD we argue that RHPD-DW is a distinct monogenetic syndrome, and not an association.

  19. Earthquake Shaking - Finding the "Hot Spots"

    USGS Publications Warehouse

    Field, Edward; Jones, Lucile; Jordan, Tom; Benthien, Mark; Wald, Lisa

    2001-01-01

    A new Southern California Earthquake Center study has quantified how local geologic conditions affect the shaking experienced in an earthquake. The important geologic factors at a site are softness of the rock or soil near the surface and thickness of the sediments above hard bedrock. Even when these 'site effects' are taken into account, however, each earthquake exhibits unique 'hotspots' of anomalously strong shaking. Better predictions of strong ground shaking will therefore require additional geologic data and more comprehensive computer simulations of individual earthquakes.

  20. Genetic counselling issues in cystic fibrosis.

    PubMed

    Culling, Bronwyn; Ogle, Robert

    2010-06-01

    Cystic fibrosis is a chronic condition for which genetic testing offers much for the individuals affected in terms of an early diagnosis and offers timely additional information for families with regard to family planning and prenatal testing. Genetic counselling encompasses a range of clinical issues for families and forms a complementary resource for clinicians caring for people with cystic fibrosis. This review will discuss the range of genetic information readily available to patients and families through genetic counselling. Copyright 2010 Elsevier Ltd. All rights reserved.

  1. Individualized music for dementia: Evolution and application of evidence-based protocol.

    PubMed

    Gerdner, Linda A

    2012-04-22

    The theory-based intervention of individualized music has been evaluated clinically and empirically leading to advancement and refinement of an evidence-based protocol, currently in its 5th edition. An expanded version of the protocol was written for professional health care providers with a consumer version tailored for family caregivers. The underlying mid-range theory is presented along with a seminal study that was followed by further research in the United States, Canada, Great Britain, France, Sweden, Norway, Japan and Taiwan. Key studies are summarized. Given its efficacy when implemented by research staff, studies have advanced to testing the intervention under real-life conditions when implemented and evaluated by trained nursing assistants in long-term care facilities and visiting family members. In addition, one study evaluated the implementation of music by family members in the home setting. Initial research focused on agitation as the dependent variable with subsequent research indicating a more holistic response such as positive affect, expressed satisfaction, and meaningful interaction with others. The article advances by describing on-line programs designed to train health care professionals in the assessment, implementation and evaluation of individualized music. In addition, Gerdner has written a story for a picture book intended for children and their families (in press). The story models principles of individualized music to elicit positive memories, reduce anxiety and agitation, and promote communication. The article concludes with implications for future research.

  2. Individualized music for dementia: Evolution and application of evidence-based protocol

    PubMed Central

    Gerdner, Linda A

    2012-01-01

    The theory-based intervention of individualized music has been evaluated clinically and empirically leading to advancement and refinement of an evidence-based protocol, currently in its 5th edition. An expanded version of the protocol was written for professional health care providers with a consumer version tailored for family caregivers. The underlying mid-range theory is presented along with a seminal study that was followed by further research in the United States, Canada, Great Britain, France, Sweden, Norway, Japan and Taiwan. Key studies are summarized. Given its efficacy when implemented by research staff, studies have advanced to testing the intervention under real-life conditions when implemented and evaluated by trained nursing assistants in long-term care facilities and visiting family members. In addition, one study evaluated the implementation of music by family members in the home setting. Initial research focused on agitation as the dependent variable with subsequent research indicating a more holistic response such as positive affect, expressed satisfaction, and meaningful interaction with others. The article advances by describing on-line programs designed to train health care professionals in the assessment, implementation and evaluation of individualized music. In addition, Gerdner has written a story for a picture book intended for children and their families (in press). The story models principles of individualized music to elicit positive memories, reduce anxiety and agitation, and promote communication. The article concludes with implications for future research. PMID:24175165

  3. [Climate change - physical and mental consequences].

    PubMed

    Bunz, Maxie; Mücke, Hans-Guido

    2017-06-01

    Climate change has already had a large influence on the human environmental system and directly or indirectly affects physical and mental health. Triggered by extreme meteorological conditions, for example, storms, floods, earth slides and heat periods, the direct consequences range from illnesses to serious accidents with injuries, or in extreme cases fatalities. Indirectly, a changed environment due to climate change affects, amongst other things, the cardiovascular system and respiratory tract, and can also cause allergies and infectious diseases. In addition, increasing confrontation with environmental impacts may cause negative psychological effects such as posttraumatic stress disorders and anxiety, but also aggression, distress and depressive symptoms. The extent and severity of the health consequences depend on individual pre-disposition, resilience, behaviour and adaptation.

  4. The content of polyphenolic compounds in cocoa beans (Theobroma cacao L.), depending on variety, growing region, and processing operations: a review.

    PubMed

    Oracz, Joanna; Zyzelewicz, Dorota; Nebesny, Ewa

    2015-01-01

    Polyphenols form the largest group of compounds among natural antioxidants, which largely affect the overall antioxidant and anti-free radical activity of cocoa beans. The qualitative and quantitative composition of individual fractions of polyphenolic compounds, even within one species, is very diverse and depends on many factors, mainly on the area of cocoa trees cultivation, bean maturity, climatic conditions during growth, and the harvest season and storage time after harvest. Thermal processing of cocoa beans and cocoa derivative products at relatively high temperatures may in addition to favorable physicochemical, microbiological, and organoleptic changes result in a decrease of polyphenols concentration. Technological processing of cocoa beans negatively affects the content of polyphenolic compounds.

  5. Evaluation of inter-day and inter-individual variability of tear peptide/protein profiles by MALDI-TOF MS analyses

    PubMed Central

    González, Nerea; Iloro, Ibon; Durán, Juan A.; Elortza, Félix

    2012-01-01

    Purpose To characterize the tear film peptidome and low molecular weight protein profiles of healthy control individuals, and to evaluate changes due to day-to-day and individual variation and tear collection methods, by using solid phase extraction coupled to matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) profiling. Methods The tear protein profiles of six healthy volunteers were analyzed over seven days and inter-day and inter-individual variability was evaluated. The bilaterality of tear film and the effect of tear collection methods on protein profiles were also analyzed in some of these patients. MALDI-TOF MS analyses were performed on tear samples purified by using a solid phase extraction (SPE) method based on C18 functionalized magnetic beads for peptide and low molecular weight protein enrichment, focusing spectra acquisition on the 1 to 20 kDa range. Spectra were analyzed using principal component analysis (PCA) with MultiExperiment Viewer (TMeV) software. Volunteers were examined in terms of tear production status (Schirmer I test), clinical assessment of palpebral lids and meibomian glands, and a subjective OSD questionnaire before tear collection by a glass micro-capillary. Results Analysis of peptides and proteins in the 1–20 kDa range showed no significant inter-day differences in tear samples collected from six healthy individuals during seven days of monitoring, but revealed subtle intrinsic inter-individual differences. Profile analyses of tears collected from the right and left eyes confirmed tear bilaterality in four healthy patients. The addition of physiologic serum for tear sample collection did not affect the peptide and small protein profiles with respect to the number of resolved peaks, but it did reduce the signal intensity of the peaks, and increased variability. Magnetic beads were found to be a suitable method for tear film purification for the profiling study. Conclusions No significant variability in tear peptide and protein profiles below 20 kDa was found in healthy controls over a seven day period, nor in right versus left eye profiles from the same individual. Subtle inter-individual differences can be observed upon tear profiling analysis and confirm intrinsic variability between control subjects. Addition of physiologic serum for tear collection affects the proteome and peptidome in terms of peak intensities, but not in the composition of the profiles themselves. This work shows that MALDI-TOF MS coupled with C18 magnetic beads is an effective and reproducible methodology for tear profiling studies in the clinical monitoring of patients. PMID:22736947

  6. Environmental risk assessment of triclosan and ibuprofen in marine sediments using individual and sub-individual endpoints.

    PubMed

    Pusceddu, F H; Choueri, R B; Pereira, C D S; Cortez, F S; Santos, D R A; Moreno, B B; Santos, A R; Rogero, J R; Cesar, A

    2018-01-01

    The guidelines for the Environmental Risk Assessment (ERA) of pharmaceuticals and personal care products (PPCP) recommend the use of standard ecotoxicity assays and the assessment of endpoints at the individual level to evaluate potential effects of PPCP on biota. However, effects at the sub-individual level can also affect the ecological fitness of marine organisms chronically exposed to PPCP. The aim of the current study was to evaluate the environmental risk of two PPCP in marine sediments: triclosan (TCS) and ibuprofen (IBU), using sub-individual and developmental endpoints. The environmental levels of TCS and IBU were quantified in marine sediments from the vicinities of the Santos submarine sewage outfall (Santos Bay, São Paulo, Brazil) at 15.14 and 49.0 ng g -1 , respectively. A battery (n = 3) of chronic bioassays (embryo-larval development) with a sea urchin (Lytechinus variegatus) and a bivalve (Perna perna) were performed using two exposure conditions: sediment-water interface and elutriates. Moreover, physiological stress through the Neutral Red Retention Time Assay (NRRT) was assessed in the estuarine bivalve Mytella charruana exposed to TCS and IBU spiked sediments. These compounds affected the development of L. variegatus and P. perna (75 ng g -1 for TCS and 15 ng g -1 for IBU), and caused a significant decrease in M. charruana lysosomal membrane stability at environmentally relevant concentrations (0.08 ng g -1 for TCS and 0.15 ng g -1 for IBU). Chemical and ecotoxicological data were integrated and the risk quotient estimated for TCS and IBU were higher than 1.0, indicating a high environmental risk of these compounds in sediments. These are the first data of sediment risk assessment of pharmaceuticals and personal care products of Latin America. In addition, the results suggest that the ERA based only on individual-level and standard toxicity tests may overlook other biological effects that can affect the health of marine organisms exposed to PPCP. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. 12-month trajectories of depressive symptoms among nurses-Contribution of personality, job characteristics, coping, and burnout.

    PubMed

    Duan-Porter, Wei; Hatch, Daniel; Pendergast, Jane F; Freude, Gabriele; Rose, Uwe; Burr, Hermann; Müller, Grit; Martus, Peter; Pohrt, Anne; Potter, Guy

    2018-07-01

    Job related factors have been associated with higher risk for developing depression, but past studies lacked full consideration of individual factors such as personality and coping. We sought to evaluate associations of personality, coping, job characteristics, and burnout with 12-month trajectories of depressive symptoms among nursing workers. Cohort of nursing workers (N = 281) in a private hospital system, with baseline assessments of personality, job characteristics, and coping. Burnout and depression were measured at baseline and during monthly follow-ups. Linear mixed modeling was used to examine contributions to between- and within-individual variation in monthly depressive symptoms. Personality trait of negative affectivity accounted for 36% of between-individual variation in depressive symptoms over 12 months, while job characteristics and coping explained an additional 5% and 8% of this variation, respectively. Exhaustion dimension of burnout was associated with between-individual variation in depressive symptoms (fixed effect β coefficient 2.44, p < 0.001), but not with within-individual variation in symptoms. Disengagement dimension of burnout was not associated with between-individual variation in depressive symptoms, but contributed to within-individual variation in depressive symptoms over time (fixed effect β coefficient 0.52, p = 0.01). Participants were nursing workers within a single hospital system. Participants who were excluded due to missing baseline data were more likely of non-white race, which may also limit the generalizability of our results. We used latent variables to represent certain job and coping characteristics, which may make our results less comparable with other studies examining the role of these factors in work-associated depression. Future interventions to prevent depression in healthcare workers should consider multiple job and individual factors. Potential components include strategies to manage negative affectivity and reduce avoidant coping, such as cognitive reframing and mindfulness-based techniques, and organizational approaches to address burnout through augmentation of job resources. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. Academic stress and positive affect: Asian value and self-worth contingency as moderators among Chinese international students.

    PubMed

    Liao, Kelly Yu-Hsin; Wei, Meifen

    2014-01-01

    The theoretical model proposed by Berry and colleagues (Berry, 1997; Berry, Kim, Minde, & Mok, 1987) highlights the importance of identifying moderators in the acculturation process. Accordingly, the current study examined the Asian cultural value of family recognition through achievement (FRTA) and contingency of self-worth on academic competence (CSW-AC) as moderators in the association between academic stress and positive affect among Chinese international students. A total of 370 Chinese international students completed online surveys. Results from a hierarchical regression indicated that while academic stress was negatively associated with positive affect, FRTA was positively associated with positive affect. In other words, those with high academic stress reported a lower level of positive affect. However, individuals who endorsed high levels of FRTA reported a higher level of positive affect. In addition, results also revealed a significant interaction between academic stress and CSW-AC on positive affect. Thus, the study's finding supported the moderator role of CSW-AC. Simple effect analyses were conducted to examine the significant interaction. The results showed that higher levels of CSW-AC strengthened the negative association between academic stress and positive affect but lower levels of CSW-AC did not. Future research directions and implications are discussed.

  9. Trait Affect, Emotion Regulation, and the Generation of Negative and Positive Interpersonal Events.

    PubMed

    Hamilton, Jessica L; Burke, Taylor A; Stange, Jonathan P; Kleiman, Evan M; Rubenstein, Liza M; Scopelliti, Kate A; Abramson, Lyn Y; Alloy, Lauren B

    2017-07-01

    Positive and negative trait affect and emotion regulatory strategies have received considerable attention in the literature as predictors of psychopathology. However, it remains unclear whether individuals' trait affect is associated with responses to state positive affect (positive rumination and dampening) or negative affect (ruminative brooding), or whether these affective experiences contribute to negative or positive interpersonal event generation. Among 304 late adolescents, path analyses indicated that individuals with higher trait negative affect utilized dampening and brooding rumination responses, whereas those with higher trait positive affect engaged in rumination on positive affect. Further, there were indirect relationships between trait negative affect and fewer positive and negative interpersonal events via dampening, and between trait positive affect and greater positive and negative interpersonal events via positive rumination. These findings suggest that individuals' trait negative and positive affect may be associated with increased utilization of emotion regulation strategies for managing these affects, which may contribute to the occurrence of positive and negative events in interpersonal relationships. Copyright © 2017. Published by Elsevier Ltd.

  10. Emotion Regulation Moderates the Association between Empathy and Prosocial Behavior

    PubMed Central

    Lockwood, Patricia L.; Seara-Cardoso, Ana; Viding, Essi

    2014-01-01

    Theory and evidence suggest that empathy is an important motivating factor for prosocial behaviour and that emotion regulation, i.e. the capacity to exert control over an emotional response, may moderate the degree to which empathy is associated with prosocial behaviour. However, studies to date have not simultaneously explored the associations between different empathic processes and prosocial behaviour, nor whether different types of emotion regulation strategies (e.g. cognitive reappraisal and expressive suppression) moderate associations between empathy and prosocial behaviour. One hundred–and-ten healthy adults completed questionnaire measures of empathy, emotion regulation and prosocial tendencies. In this sample, both affective and cognitive empathy predicted self-reported prosocial tendencies. In addition, cognitive reappraisal moderated the association between affective empathy and prosocial tendencies. Specifically, there was a significant positive association between empathy and prosocial tendencies for individuals with a low or average tendency to reappraise but not for those with a high tendency to reappraise. Our findings suggest that, in general, empathy is positively associated with prosocial behaviour. However, this association is not significant for individuals with a high tendency for cognitive reappraisal. PMID:24810604

  11. The Fragile X Mental Retardation Syndrome 20 Years After the FMR1 Gene Discovery: an Expanding Universe of Knowledge

    PubMed Central

    Rousseau, François; Labelle, Yves; Bussières, Johanne; Lindsay, Carmen

    2011-01-01

    The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutations involved in this disease, and of their dynamic nature. Although a mouse model for the disease has been available for 16 years and extensive research has been performed on the FMR1 protein (FMRP), we still understand little about how the disease develops, and no treatment has yet been shown to be effective. In this review, we summarise current knowledge on FXMR with an emphasis on the technical challenges of molecular diagnostics, on its prevalence and dynamics among populations, and on the potential of screening for FMR1 mutations. PMID:21912443

  12. Obesity is a concern for bone health with aging.

    PubMed

    Shapses, Sue A; Pop, L Claudia; Wang, Yang

    2017-03-01

    Accumulating evidence supports a complex relationship between adiposity and osteoporosis in overweight/obese individuals, with local interactions and endocrine regulation by adipose tissue on bone metabolism and fracture risk in elderly populations. This review was conducted to summarize existing evidence to test the hypothesis that obesity is a risk factor for bone health in aging individuals. Mechanisms by which obesity adversely affects bone health are believed to be multiple, such as an alteration of bone-regulating hormones, inflammation, oxidative stress, the endocannabinoid system, that affect bone cell metabolism are discussed. In addition, evidence on the effect of fat mass and distribution on bone mass and quality is reviewed together with findings relating energy and fat intake with bone health. In summary, studies indicate that the positive effects of body weight on bone mineral density cannot counteract the detrimental effects of obesity on bone quality. However, the exact mechanism underlying bone deterioration in the obese is not clear yet and further research is required to elucidate the effect of adipose depots on bone and fracture risk in the obese population. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. HEAD LICE IN HAIR SAMPLES FROM YOUTHS, ADULTS AND THE ELDERLY IN MANAUS, AMAZONAS STATE, BRAZIL.

    PubMed

    Nunes, Suellen Cristina Barbosa; Moroni, Raquel Borges; Mendes, Júlio; Justiniano, Sílvia Cássia Brandão; Moroni, Fábio Tonissi

    2015-01-01

    A study of head lice infestations among young people, adults and elderly individuals was conducted from August 2010 to July 2013 in Manaus, AM, Northern Brazil. Hair samples collected from 1,860 individuals in 18 barber shops and beauty parlors were examined for the ectoparasite. The occurrence of pediculosis and its association with factors, such as sex, age, ethnicity, hair characteristics and the socioeconomic profile of salon customers, salon location and seasonal variation were determined. The overall occurrence rate was 2.84%. Occurrence was higher in hair samples from non-blacks and the elderly. Higher occurrence was also observed during kindergarten, elementary and junior education school holidays. The results indicate that the occurrence of head lice among young people, adults and the elderly in Manaus is relatively low compared to that determined in children and in other regions of the country. After children, the elderly were the most affected. The study also indicated the need to adopt additional procedures to improve surveys among the population with low or no purchasing power, which is usually the most affected by this ectoparasitic disease.

  14. Terrorism, distress, and drinking: vulnerability and protective factors.

    PubMed

    Richman, Judith A; Rospenda, Kathleen M; Cloninger, Lea

    2009-12-01

    Research has demonstrated effects of 9/11 on distress and drinking outcomes in individuals directly affected and indirectly affected across the United States. Fewer studies have addressed vulnerability and protective factors shown to moderate the effects of stress exposure. We report findings from a Midwestern workplace cohort study. Respondents to a 6 wave longitudinal mail survey completed questionnaires prior to September 11, 2001 and again in 2003 and 2005. Regression analyses encompassed measures of terrorism-related beliefs and fears, workplace stressors (sexual harassment, generalized abuse and low decision latitude), marital and parental status, and perceived social support in 2003, and distress and deleterious drinking outcomes in 2005. Analyses showed that terrorism-related fears significantly interacted with workplace stressors and interpersonal social relationships in predicting distress, drinking or both, controlling for pre-9/11 distress and drinking. Gender differences were also found. This article suggests that certain individuals may be at heightened risk for distressful reactions to and/or deleterious drinking resulting from terrorism-related issues and fears due to additional risk factors involving workplace stressors and inadequate interpersonal bonds. However, limitations of the study were noted and future research was recommended.

  15. HEAD LICE IN HAIR SAMPLES FROM YOUTHS, ADULTS AND THE ELDERLY IN MANAUS, AMAZONAS STATE, BRAZIL

    PubMed Central

    NUNES, Suellen Cristina Barbosa; MORONI, Raquel Borges; MENDES, Júlio; JUSTINIANO, Sílvia Cássia Brandão; MORONI, Fábio Tonissi

    2015-01-01

    A study of head lice infestations among young people, adults and elderly individuals was conducted from August 2010 to July 2013 in Manaus, AM, Northern Brazil. Hair samples collected from 1,860 individuals in 18 barber shops and beauty parlors were examined for the ectoparasite. The occurrence of pediculosis and its association with factors, such as sex, age, ethnicity, hair characteristics and the socioeconomic profile of salon customers, salon location and seasonal variation were determined. The overall occurrence rate was 2.84%. Occurrence was higher in hair samples from non-blacks and the elderly. Higher occurrence was also observed during kindergarten, elementary and junior education school holidays. The results indicate that the occurrence of head lice among young people, adults and the elderly in Manaus is relatively low compared to that determined in children and in other regions of the country. After children, the elderly were the most affected. The study also indicated the need to adopt additional procedures to improve surveys among the population with low or no purchasing power, which is usually the most affected by this ectoparasitic disease. PMID:26200965

  16. Analysis of risk assessment factors of individuals in volcanic hazards: Review of the last decade

    NASA Astrophysics Data System (ADS)

    Favereau, Marcel; Robledo, Luis F.; Bull, Maria T.

    2018-05-01

    During the history of mankind, natural disasters have had severe repercussions on the different ecosystems, with volcanic eruptions being a clear example of this. This review is responsible for gathering the most important volatile hazards assessment research of the last decade with the objective of knowing the state of the art in relation to the studies of people's risk perception and acceptance in communities threatened by the danger of volcanic eruptions. In addition, this study includes the analysis of several cases across different countries. The results that this research offers serve as a frame of reference to determine and understand how resilient a community affected by the volatile hazards can be, since they are able to identify the main incident factors of risk that affect the communities to different degrees according to the context at the time of making the risk judgment. On the other hand, through this review, it is proposed as a future research topic to understand the levels of risk acceptance of individuals, due to the fact that the studies related to this subject are scarce.

  17. The individual response to training and competition at altitude.

    PubMed

    Chapman, Robert F

    2013-12-01

    Performance in athletic activities that include a significant aerobic component at mild or moderate altitudes shows a large individual variation. Physiologically, a large portion of the negative effect of altitude on exercise performance can be traced to limitations of oxygen diffusion, either at the level of the alveoli or the muscle microvasculature. In the lung, the ability to maintain arterial oxyhaemoglobin saturation (SaO₂) appears to be a primary factor, ultimately influencing oxygen delivery to the periphery. SaO₂ in hypoxia can be defended by increasing ventilatory drive; however, during heavy exercise, many athletes demonstrate limitations to expiratory flow and are unable to increase ventilation in hypoxia. Additionally, increasing ventilatory work in hypoxia may actually be negative for performance, if dyspnoea increases or muscle blood flow is reduced secondary to an increased sympathetic outflow (eg, the muscle metaboreflex response). Taken together, some athletes are clearly more negatively affected during exercise in hypoxia than other athletes. With careful screening, it may be possible to develop a protocol for determining which athletes may be the most negatively affected during competition and/or training at altitude.

  18. The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.

    PubMed

    Rousseau, François; Labelle, Yves; Bussières, Johanne; Lindsay, Carmen

    2011-08-01

    The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutations involved in this disease, and of their dynamic nature. Although a mouse model for the disease has been available for 16 years and extensive research has been performed on the FMR1 protein (FMRP), we still understand little about how the disease develops, and no treatment has yet been shown to be effective. In this review, we summarise current knowledge on FXMR with an emphasis on the technical challenges of molecular diagnostics, on its prevalence and dynamics among populations, and on the potential of screening for FMR1 mutations.

  19. Emotion regulation moderates the association between empathy and prosocial behavior.

    PubMed

    Lockwood, Patricia L; Seara-Cardoso, Ana; Viding, Essi

    2014-01-01

    Theory and evidence suggest that empathy is an important motivating factor for prosocial behaviour and that emotion regulation, i.e. the capacity to exert control over an emotional response, may moderate the degree to which empathy is associated with prosocial behaviour. However, studies to date have not simultaneously explored the associations between different empathic processes and prosocial behaviour, nor whether different types of emotion regulation strategies (e.g. cognitive reappraisal and expressive suppression) moderate associations between empathy and prosocial behaviour. One hundred-and-ten healthy adults completed questionnaire measures of empathy, emotion regulation and prosocial tendencies. In this sample, both affective and cognitive empathy predicted self-reported prosocial tendencies. In addition, cognitive reappraisal moderated the association between affective empathy and prosocial tendencies. Specifically, there was a significant positive association between empathy and prosocial tendencies for individuals with a low or average tendency to reappraise but not for those with a high tendency to reappraise. Our findings suggest that, in general, empathy is positively associated with prosocial behaviour. However, this association is not significant for individuals with a high tendency for cognitive reappraisal.

  20. Obesity is a concern for bone health with aging

    PubMed Central

    Shapses, Sue A.; Pop, L. Claudia; Wang, Yang

    2017-01-01

    Accumulating evidence supports a complex relationship between adiposity and osteoporosis in overweight/obese individuals, with local interactions and endocrine regulation by adipose tissue on bone metabolism and fracture risk in elderly populations. This review was conducted to summarize existing evidence to test the hypothesis that obesity is a risk factor for bone health in aging individuals. Mechanisms by which obesity adversely affects bone health are believed to be multiple, such as an alteration of bone-regulating hormones, inflammation, oxidative stress, the endocannabinoid system, that affect bone cell metabolism are discussed. In addition, evidence on the effect of fat mass and distribution on bone mass and quality is reviewed together with findings relating energy and fat intake with bone health. In summary, studies indicate that the positive effects of body weight on bone mineral density cannot counteract the detrimental effects of obesity on bone quality. However, the exact mechanism underlying bone deterioration in the obese is not clear yet and further research is required to elucidate the effect of adipose depots on bone and fracture risk in the obese population. PMID:28385284

  1. Long-Term Effects of the Cleaner Fish Labroides dimidiatus on Coral Reef Fish Communities

    PubMed Central

    Waldie, Peter A.; Blomberg, Simon P.; Cheney, Karen L.; Goldizen, Anne W.; Grutter, Alexandra S.

    2011-01-01

    Cleaning behaviour is deemed a mutualism, however the benefit of cleaning interactions to client individuals is unknown. Furthermore, mechanisms that may shift fish community structure in the presence of cleaning organisms are unclear. Here we show that on patch reefs (61–285 m2) which had all cleaner wrasse Labroides dimidiatus (Labridae) experimentally removed (1–5 adults reef−1) and which were then maintained cleaner-fish free over 8.5 years, individuals of two site-attached (resident) client damselfishes (Pomacentridae) were smaller compared to those on control reefs. Furthermore, resident fishes were 37% less abundant and 23% less species rich per reef, compared to control reefs. Such changes in site-attached fish may reflect lower fish growth rates and/or survivorship. Additionally, juveniles of visitors (fish likely to move between reefs) were 65% less abundant on removal reefs suggesting cleaners may also affect recruitment. This may, in part, explain the 23% lower abundance and 33% lower species richness of visitor fishes, and 66% lower abundance of visitor herbivores (Acanthuridae) on removal reefs that we also observed. This is the first study to demonstrate a benefit of cleaning behaviour to client individuals, in the form of increased size, and to elucidate potential mechanisms leading to community-wide effects on the fish population. Many of the fish groups affected may also indirectly affect other reef organisms, thus further impacting the reef community. The large-scale effect of the presence of the relatively small and uncommon fish, Labroides dimidiadus, on other fishes is unparalleled on coral reefs. PMID:21731670

  2. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

    PubMed Central

    McInerney-Leo, Aideen M.; Schmidts, Miriam; Cortés, Claudio R.; Leo, Paul J.; Gener, Blanca; Courtney, Andrew D.; Gardiner, Brooke; Harris, Jessica A.; Lu, Yeping; Marshall, Mhairi; Scambler, Peter J.; Beales, Philip L.; Brown, Matthew A.; Zankl, Andreas; Mitchison, Hannah M.; Duncan, Emma L.; Wicking, Carol

    2013-01-01

    Short-rib polydactyly syndromes (SRPS I–V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. PMID:23910462

  3. Heart failure in numbers: Estimates for the 21st century in Portugal.

    PubMed

    Fonseca, Cândida; Brás, Daniel; Araújo, Inês; Ceia, Fátima

    2018-02-01

    Heart failure is a major public health problem that affects a large number of individuals and is associated with high mortality and morbidity. This study aims to estimate the probable scenario for HF prevalence and its consequences in the short-, medium- and long-term in Portugal. This assessment is based on the EPICA (Epidemiology of Heart Failure and Learning) project, which was designed to estimate the prevalence of chronic heart failure in mainland Portugal in 1998. Estimates of heart failure prevalence were performed for individuals aged over 25 years, distributed by age group and gender, based on data from the 2011 Census by Statistics Portugal. The expected demographic changes, particularly the marked aging of the population, mean that a large number of Portuguese will likely be affected by this syndrome. Assuming that current clinical practices are maintained, the prevalence of heart failure in mainland Portugal will increase by 30% by 2035 and by 33% by 2060, compared to 2011, resulting in 479 921 and 494 191 affected individuals, respectively. In addition to the large number of heart failure patients expected, it is estimated that the hospitalizations and mortality associated with this syndrome will significantly increase its economic impact. Therefore, it is extremely important to raise awareness of this syndrome, as this will favor diagnosis and early referral of patients, facilitating better management of heart failure and helping to decrease the burden it imposes on Portugal. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Intranasal oxytocin increases facial expressivity, but not ratings of trustworthiness, in patients with schizophrenia and healthy controls.

    PubMed

    Woolley, J D; Chuang, B; Fussell, C; Scherer, S; Biagianti, B; Fulford, D; Mathalon, D H; Vinogradov, S

    2017-05-01

    Blunted facial affect is a common negative symptom of schizophrenia. Additionally, assessing the trustworthiness of faces is a social cognitive ability that is impaired in schizophrenia. Currently available pharmacological agents are ineffective at improving either of these symptoms, despite their clinical significance. The hypothalamic neuropeptide oxytocin has multiple prosocial effects when administered intranasally to healthy individuals and shows promise in decreasing negative symptoms and enhancing social cognition in schizophrenia. Although two small studies have investigated oxytocin's effects on ratings of facial trustworthiness in schizophrenia, its effects on facial expressivity have not been investigated in any population. We investigated the effects of oxytocin on facial emotional expressivity while participants performed a facial trustworthiness rating task in 33 individuals with schizophrenia and 35 age-matched healthy controls using a double-blind, placebo-controlled, cross-over design. Participants rated the trustworthiness of presented faces interspersed with emotionally evocative photographs while being video-recorded. Participants' facial expressivity in these videos was quantified by blind raters using a well-validated manualized approach (i.e. the Facial Expression Coding System; FACES). While oxytocin administration did not affect ratings of facial trustworthiness, it significantly increased facial expressivity in individuals with schizophrenia (Z = -2.33, p = 0.02) and at trend level in healthy controls (Z = -1.87, p = 0.06). These results demonstrate that oxytocin administration can increase facial expressivity in response to emotional stimuli and suggest that oxytocin may have the potential to serve as a treatment for blunted facial affect in schizophrenia.

  5. Interest in politics modulates neural activity in the amygdala and ventral striatum.

    PubMed

    Gozzi, Marta; Zamboni, Giovanna; Krueger, Frank; Grafman, Jordan

    2010-11-01

    Studies on political participation have found that a person's interest in politics contributes to the likelihood that he or she will be involved in the political process. Here, we looked at whether or not interest in politics affects patterns of brain activity when individuals think about political matters. Using functional magnetic resonance imaging (fMRI), we scanned individuals (either interested or uninterested in politics based on a self-report questionnaire) while they were expressing their agreement or disagreement with political opinions. After scanning, participants were asked to rate each political opinion presented in the scanner for emotional valence and emotional intensity. Behavioral results showed that those political opinions participants agreed with were perceived as more emotionally intense and more positive by individuals interested in politics relative to individuals uninterested in politics. In addition, individuals interested in politics showed greater activation in the amygdala and the ventral striatum (ventral putamen) relative to individuals uninterested in politics when reading political opinions in accordance with their own views. This study shows that having an interest in politics elicits activations in emotion- and reward-related brain areas even when simply agreeing with written political opinions. © 2010 Wiley-Liss, Inc.

  6. Small within-day increases in temperature affects boldness and alters personality in coral reef fish.

    PubMed

    Biro, Peter A; Beckmann, Christa; Stamps, Judy A

    2010-01-07

    Consistent individual differences in behaviour, termed personality, are common in animal populations and can constrain their responses to ecological and environmental variation, such as temperature. Here, we show for the first time that normal within-daytime fluctuations in temperature of less than 3 degrees C have large effects on personality for two species of juvenile coral reef fish in both observational and manipulative experiments. On average, individual scores on three personality traits (PTs), activity, boldness and aggressiveness, increased from 2.5- to sixfold as a function of temperature. However, whereas most individuals became more active, aggressive and bold across temperature contexts (were plastic), others did not; this changed the individual rank order across temperatures and thus altered personality. In addition, correlations between PTs were consistent across temperature contexts, e.g. fish that were active at a given temperature also tended to be both bold and aggressive. These results (i) highlight the importance of very carefully controlling for temperature when studying behavioural variation among and within individuals and (ii) suggest that individual differences in energy metabolism may contribute to animal personality, given that temperature has large direct effects on metabolic rates in ectotherms.

  7. Mixed Model Methods for Genomic Prediction and Variance Component Estimation of Additive and Dominance Effects Using SNP Markers

    PubMed Central

    Da, Yang; Wang, Chunkao; Wang, Shengwen; Hu, Guo

    2014-01-01

    We established a genomic model of quantitative trait with genomic additive and dominance relationships that parallels the traditional quantitative genetics model, which partitions a genotypic value as breeding value plus dominance deviation and calculates additive and dominance relationships using pedigree information. Based on this genomic model, two sets of computationally complementary but mathematically identical mixed model methods were developed for genomic best linear unbiased prediction (GBLUP) and genomic restricted maximum likelihood estimation (GREML) of additive and dominance effects using SNP markers. These two sets are referred to as the CE and QM sets, where the CE set was designed for large numbers of markers and the QM set was designed for large numbers of individuals. GBLUP and associated accuracy formulations for individuals in training and validation data sets were derived for breeding values, dominance deviations and genotypic values. Simulation study showed that GREML and GBLUP generally were able to capture small additive and dominance effects that each accounted for 0.00005–0.0003 of the phenotypic variance and GREML was able to differentiate true additive and dominance heritability levels. GBLUP of the total genetic value as the summation of additive and dominance effects had higher prediction accuracy than either additive or dominance GBLUP, causal variants had the highest accuracy of GREML and GBLUP, and predicted accuracies were in agreement with observed accuracies. Genomic additive and dominance relationship matrices using SNP markers were consistent with theoretical expectations. The GREML and GBLUP methods can be an effective tool for assessing the type and magnitude of genetic effects affecting a phenotype and for predicting the total genetic value at the whole genome level. PMID:24498162

  8. Mixed model methods for genomic prediction and variance component estimation of additive and dominance effects using SNP markers.

    PubMed

    Da, Yang; Wang, Chunkao; Wang, Shengwen; Hu, Guo

    2014-01-01

    We established a genomic model of quantitative trait with genomic additive and dominance relationships that parallels the traditional quantitative genetics model, which partitions a genotypic value as breeding value plus dominance deviation and calculates additive and dominance relationships using pedigree information. Based on this genomic model, two sets of computationally complementary but mathematically identical mixed model methods were developed for genomic best linear unbiased prediction (GBLUP) and genomic restricted maximum likelihood estimation (GREML) of additive and dominance effects using SNP markers. These two sets are referred to as the CE and QM sets, where the CE set was designed for large numbers of markers and the QM set was designed for large numbers of individuals. GBLUP and associated accuracy formulations for individuals in training and validation data sets were derived for breeding values, dominance deviations and genotypic values. Simulation study showed that GREML and GBLUP generally were able to capture small additive and dominance effects that each accounted for 0.00005-0.0003 of the phenotypic variance and GREML was able to differentiate true additive and dominance heritability levels. GBLUP of the total genetic value as the summation of additive and dominance effects had higher prediction accuracy than either additive or dominance GBLUP, causal variants had the highest accuracy of GREML and GBLUP, and predicted accuracies were in agreement with observed accuracies. Genomic additive and dominance relationship matrices using SNP markers were consistent with theoretical expectations. The GREML and GBLUP methods can be an effective tool for assessing the type and magnitude of genetic effects affecting a phenotype and for predicting the total genetic value at the whole genome level.

  9. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

    PubMed

    Lohmann, Katja; Redin, Claire; Tönnies, Holger; Bressman, Susan B; Subero, Jose Ignacio Martin; Wiegers, Karin; Hinrichs, Frauke; Hellenbroich, Yorck; Rakovic, Aleksandar; Raymond, Deborah; Ozelius, Laurie J; Schwinger, Eberhard; Siebert, Reiner; Talkowski, Michael E; Saunders-Pullman, Rachel; Klein, Christine

    2017-07-01

    Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Of note, there was a seemingly implausible transmission pattern in this family due to a mutation-negative obligate mutation carrier. Genetic diagnosis in affected family members and insight into the formation of large deletions. Four members were diagnosed with definite and 1 with probable dopa-responsive dystonia. All 5 affected individuals carried a large heterozygous deletion encompassing all 6 exons of GCH1. Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had retinal detachment, and 2 showed skeletal abnormalities of the hands, ie, polydactyly or syndactyly or missing a hand digit. Two individuals were reported to be free of any disease. Analyses revealed complex chromosomal rearrangements on chromosome 14q21-22 in unaffected individuals that triggered the expansion to a larger deletion segregating with affection status. The expansion occurred recurrently, explaining the seemingly non-mendelian inheritance pattern. These rearrangements included a deletion of GCH1, which likely contributes to the dopa-responsive dystonia, as well as a deletion of BMP4 as a potential cause of digital and eye abnormalities. Our findings alert neurologists to the importance of clinical red flags, ie, unexpected co-occurrence of clinical features that may point to the presence of chromosomal rearrangements as the primary disease cause. The clinical management and diagnostics of such patients requires an interdisciplinary approach in modern clinical-diagnostic care.

  10. The influence of CYP1A2 genotype in the blood pressure response to caffeine ingestion is affected by physical activity status and caffeine consumption level.

    PubMed

    Soares, Rogerio Nogueira; Schneider, Augusto; Valle, Sandra Costa; Schenkel, Paulo Cavalheiro

    2018-03-06

    This study aimed to investigate whether the influence of CYP1A2 genotype in the blood pressure (BP) response to caffeine ingestion was affected by physical activity status and habitual caffeine consumption. Thirty-seven participants (19-50 years old) took place in the study and were categorized according to i) genotype: CYP1A2 (AA) "fast metabolizer", and CYP1A2 (AC) "slow metabolizer"; ii) physical activity level: sedentary (S) and physically active (A); and iii) caffeine consumption level: non-habitual caffeine consumer (NC) and habitual heavy caffeine consumer (C). All groups had BP assessed before (basal) and 1 hourh after (post) caffeine ingestion (6 mg·kg -1 ). It was observed that AC genotype individuals had increased basal-DBP and post-caffeine SBP when compared to AA individuals. Additionally, acute caffeine ingestion increased SBP only in the AC group. It was also found that physical activity only modulated the BP responses to acute caffeine ingestion in AC individuals. Furthermore, the results indicated that the habitual heavy caffeine consumers AC individuals had increased basal-DBP when compared to the AA ones. Our results suggest that the influence of CYP1A2 genotype in the basal and post-caffeine BP response to caffeine ingestion is modified by physical activity status and caffeine consumption level. Copyright © 2018 Elsevier Inc. All rights reserved.

  11. Learning speed is affected by personality and reproductive investment in a songbird

    PubMed Central

    Martens, Tine; Pinxten, Rianne; Eens, Marcel

    2017-01-01

    Individuals from different taxa, including songbirds, differ consistently in behaviour and personality when facing different situations. Although our understanding of animal behaviour has increased, knowledge about between-individual differences in cognitive abilities is still limited. By using an experimental approach and a free-living songbird (Parus major) as a model, we attempted to understand between-individual differences in habituation to playbacks (as a proxy of learning speed), by investigating the role of personality, age and reproductive investment (clutch size). Pre-breeding males were tested for exploration (a proxy of personality) in standardized conditions. In addition, the same individuals were exposed to three playbacks in the field during incubation. Birds significantly moved less, stayed further away and overlapped less the playback with successive playback stimulation. While a decrease in the locomotor behaviour can be explained by personality, differences in habituation of overlapping were predicted by both reproductive investment and personality. Fast explorers habituated less. Moreover, males paired to females with larger clutches did not vary the intensity of overlapping. Since habituation requires information for recognition of non-threatening signals, personality may bias information gathering. While fast explorers may collect less information from the environment, slow explorers (reactive birds) seem to pay attention to environmental clues and collect detailed information. We provided evidence that the rate of habituation of behavioural responses, a proxy of cognitive abilities, may be affected by different factors and in a complex way. PMID:29020028

  12. Speech Prosody Across Stimulus Types for Individuals with Parkinson's Disease.

    PubMed

    K-Y Ma, Joan; Schneider, Christine B; Hoffmann, Rüdiger; Storch, Alexander

    2015-01-01

    Up to 89% of the individuals with Parkinson's disease (PD) experience speech problem over the course of the disease. Speech prosody and intelligibility are two of the most affected areas in hypokinetic dysarthria. However, assessment of these areas could potentially be problematic as speech prosody and intelligibility could be affected by the type of speech materials employed. To comparatively explore the effects of different types of speech stimulus on speech prosody and intelligibility in PD speakers. Speech prosody and intelligibility of two groups of individuals with varying degree of dysarthria resulting from PD was compared to that of a group of control speakers using sentence reading, passage reading and monologue. Acoustic analysis including measures on fundamental frequency (F0), intensity and speech rate was used to form a prosodic profile for each individual. Speech intelligibility was measured for the speakers with dysarthria using direct magnitude estimation. Difference in F0 variability between the speakers with dysarthria and control speakers was only observed in sentence reading task. Difference in the average intensity level was observed for speakers with mild dysarthria to that of the control speakers. Additionally, there were stimulus effect on both intelligibility and prosodic profile. The prosodic profile of PD speakers was different from that of the control speakers in the more structured task, and lower intelligibility was found in less structured task. This highlighted the value of both structured and natural stimulus to evaluate speech production in PD speakers.

  13. Executive Function and Adaptive Behavior in Muenke Syndrome.

    PubMed

    Yarnell, Colin M P; Addissie, Yonit A; Hadley, Donald W; Guillen Sacoto, Maria J; Agochukwu, Nneamaka B; Hart, Rachel A; Wiggs, Edythe A; Platte, Petra; Paelecke, Yvonne; Collmann, Hartmut; Schweitzer, Tilmann; Kruszka, Paul; Muenke, Maximilian

    2015-08-01

    To investigate executive function and adaptive behavior in individuals with Muenke syndrome using validated instruments with a normative population and unaffected siblings as controls. Participants in this cross-sectional study included individuals with Muenke syndrome (P250R mutation in FGFR3) and their mutation-negative siblings. Participants completed validated assessments of executive functioning (Behavior Rating Inventory of Executive Function [BRIEF]) and adaptive behavior skills (Adaptive Behavior Assessment System, Second Edition [ABAS-II]). Forty-four with a positive FGFR3 mutation, median age 9 years, range 7 months to 52 years were enrolled. In addition, 10 unaffected siblings served as controls (5 males, 5 females; median age, 13 years; range, 3-18 years). For the General Executive Composite scale of the BRIEF, 32.1% of the cohort had scores greater than +1.5 SD, signifying potential clinical significance. For the General Adaptive Composite of the ABAS-II, 28.2% of affected individuals scored in the 3rd-8th percentile of the normative population, and 56.4% were below the average category (<25th percentile). Multiple regression analysis did not identify craniosynostosis as a predictor of BRIEF (P = .70) or ABAS-II scores (P = .70). In the sibling pair analysis, affected siblings performed significantly poorer on the BRIEF General Executive Composite and the ABAS-II General Adaptive Composite. Individuals with Muenke syndrome are at an increased risk for developing adaptive and executive function behavioral changes compared with a normative population and unaffected siblings. Published by Elsevier Inc.

  14. Effects of bonding with parents and home culture on intercultural adaptations and the moderating role of genes.

    PubMed

    Phua, Desiree Y; Meaney, Michael J; Khor, Chiea Chuen; Lau, Ivy Y M; Hong, Ying-Yi

    2017-05-15

    In the current age of globalization, living abroad is becoming an increasingly common and highly sought after experience. Sojourners' ability to adjust to a new culture can be affected by their existing attachments, internalized as intrapsychic environment, as well as their biological sensitivity to environment. This sensitivity can be partly attributed to one's genomic endowments. As such, this prospective study sought to examine the differential effects of early experiences with parents and affection for home culture on young adults' ability to adapt to a foreign culture (n=305, students who studied overseas for a semester) - specifically, the difficulties they experience - moderated by genetic susceptibility. An additional 258 students who did not travel overseas were included as a comparison group to demonstrate the uniqueness of intercultural adaptation. Current findings suggest that the maternal, paternal and cultural bondings or affections affect different aspects of intercultural adjustment. Maternal bonding affected sojourners' relationships with host nationals, while paternal bonding affected sojourners' adjustment to a new physical environment. Moreover, individuals' genetic predispositions significantly moderate these main effects regarding how much difficulty the sojourners experienced overseas. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Affective functioning among early adolescents at high and low familial risk for depression and their mothers: A focus on individual and transactional processes across contexts

    PubMed Central

    McMakin, Dana L.; Burkhouse, Katie L.; Olino, Thomas M.; Siegle, Greg J.; Dahl, Ronald E.; Silk, Jennifer S.

    2013-01-01

    This study aimed to characterize affective functioning in families of youth at high familial risk for depression, with particular attention to features of affective functioning that appear to be critical to adaptive functioning but have been underrepresented in prior research including: positive and negative affect across multiple contexts, individual and transactional processes, and affective flexibility. Interactions among early adolescents (ages 9-14) and their mothers were coded for affective behaviors across both positive and negative contexts. Primary analyses compared never-depressed youth at high (n=44) and low (n=57) familial risk for depression. The high risk group showed a relatively consistent pattern for low positive affect across negative and positive contexts at both the individual and transactional level. In contrast to prior studies focusing on negative affect that did not support disruptions in negative affect, the data from this study suggest variability by context: (i.e. increased negativity in a positive, but not negative, context) and individual vs. transactional processes (e.g., negative escalation). Findings are discussed in concert with attention to affect flexibility, contextual and transactional factors. PMID:21744058

  16. Sleep Deprivation Impairs the Human Central and Peripheral Nervous System Discrimination of Social Threat

    PubMed Central

    Goldstein-Piekarski, Andrea N.; Greer, Stephanie M.; Saletin, Jared M.

    2015-01-01

    Facial expressions represent one of the most salient cues in our environment. They communicate the affective state and intent of an individual and, if interpreted correctly, adaptively influence the behavior of others in return. Processing of such affective stimuli is known to require reciprocal signaling between central viscerosensory brain regions and peripheral-autonomic body systems, culminating in accurate emotion discrimination. Despite emerging links between sleep and affective regulation, the impact of sleep loss on the discrimination of complex social emotions within and between the CNS and PNS remains unknown. Here, we demonstrate in humans that sleep deprivation impairs both viscerosensory brain (anterior insula, anterior cingulate cortex, amygdala) and autonomic-cardiac discrimination of threatening from affiliative facial cues. Moreover, sleep deprivation significantly degrades the normally reciprocal associations between these central and peripheral emotion-signaling systems, most prominent at the level of cardiac-amygdala coupling. In addition, REM sleep physiology across the sleep-rested night significantly predicts the next-day success of emotional discrimination within this viscerosensory network across individuals, suggesting a role for REM sleep in affective brain recalibration. Together, these findings establish that sleep deprivation compromises the faithful signaling of, and the “embodied” reciprocity between, viscerosensory brain and peripheral autonomic body processing of complex social signals. Such impairments hold ecological relevance in professional contexts in which the need for accurate interpretation of social cues is paramount yet insufficient sleep is pervasive. PMID:26180190

  17. Effects of acute tryptophan depletion on affective processing in first-degree relatives of depressive patients and controls after exposure to uncontrollable stress.

    PubMed

    Firk, Christine; Markus, C Rob

    2008-08-01

    Individuals with a family history of depression may be more likely to develop depression due to an innate vulnerability of their serotonergic system. However, even though serotonergic vulnerability may constitute a risk factor in the development of depression, it does not seem to be sufficient to cause a depressive episode. Based on previous data, it is suggested that stress may be a mediating factor. This study examined the role of serotonin (5-HT) in stress coping in individuals with or without a family history of depression. Nineteen healthy first-degree relatives of depressive patients (FH+) and 19 healthy controls without a family history of depression (FH-) were tested in a double-blind placebo-controlled design for affective processing under acute stress exposure, following acute tryptophan depletion (ATD) or placebo. Significant negative effects were found of stress on affective processing in FH- and FH+. In addition, FH- responded slower to positive words after stress only following ATD, whereas FH+ responded marginally slower under stress already after placebo and before stress following ATD. Acute stress exposure reduces positive affective bias; supporting the role of stress as an important predecessor in the development of depression. Furthermore, FH+ may be more susceptible than FH- to the negative effects of stress as well as to the negative effects of ATD. The results support the assumption that the 5-HT system is involved in stress resilience and may be more vulnerable in first-degree relatives of depression.

  18. Olfactory attractants and parity affect prenatal androgens and territoriality of coyote breeding pairs.

    PubMed

    Schell, Christopher J; Young, Julie K; Lonsdorf, Elizabeth V; Mateo, Jill M; Santymire, Rachel M

    2016-10-15

    Hormones are fundamental mediators of personality traits intimately linked with reproductive success. Hence, alterations to endocrine factors may dramatically affect individual behavior that has subsequent fitness consequences. Yet it is unclear how hormonal or behavioral traits change with environmental stressors or over multiple reproductive opportunities, particularly for biparental fauna. To simulate an environmental stressor, we exposed captive coyote (Canis latrans) pairs to novel coyote odor attractants (i.e. commercial scent lures) mid-gestation to influence territorial behaviors, fecal glucocorticoid (FGMs) and fecal androgen metabolites (FAMs). In addition, we observed coyote pairs as first-time and experienced breeders to assess the influence of parity on our measures. Treatment pairs received the odors four times over a 20-day period, while control pairs received water. Odor-treated pairs scent-marked (e.g. urinated, ground scratched) and investigated odors more frequently than control pairs, and had higher FAMs when odors were provided. Pairs had higher FAMs as first-time versus experienced breeders, indicating that parity also affected androgen production during gestation. Moreover, repeatability in scent-marking behaviors corresponded with FGMs and FAMs, implying that coyote territoriality during gestation is underpinned by individually-specific hormone profiles. Our results suggest coyote androgens during gestation are sensitive to conspecific olfactory stimuli and prior breeding experience. Consequently, fluctuations in social or other environmental stimuli as well as increasing parity may acutely affect coyote traits essential to reproductive success. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Sleep Deprivation Impairs the Human Central and Peripheral Nervous System Discrimination of Social Threat.

    PubMed

    Goldstein-Piekarski, Andrea N; Greer, Stephanie M; Saletin, Jared M; Walker, Matthew P

    2015-07-15

    Facial expressions represent one of the most salient cues in our environment. They communicate the affective state and intent of an individual and, if interpreted correctly, adaptively influence the behavior of others in return. Processing of such affective stimuli is known to require reciprocal signaling between central viscerosensory brain regions and peripheral-autonomic body systems, culminating in accurate emotion discrimination. Despite emerging links between sleep and affective regulation, the impact of sleep loss on the discrimination of complex social emotions within and between the CNS and PNS remains unknown. Here, we demonstrate in humans that sleep deprivation impairs both viscerosensory brain (anterior insula, anterior cingulate cortex, amygdala) and autonomic-cardiac discrimination of threatening from affiliative facial cues. Moreover, sleep deprivation significantly degrades the normally reciprocal associations between these central and peripheral emotion-signaling systems, most prominent at the level of cardiac-amygdala coupling. In addition, REM sleep physiology across the sleep-rested night significantly predicts the next-day success of emotional discrimination within this viscerosensory network across individuals, suggesting a role for REM sleep in affective brain recalibration. Together, these findings establish that sleep deprivation compromises the faithful signaling of, and the "embodied" reciprocity between, viscerosensory brain and peripheral autonomic body processing of complex social signals. Such impairments hold ecological relevance in professional contexts in which the need for accurate interpretation of social cues is paramount yet insufficient sleep is pervasive. Copyright © 2015 the authors 0270-6474/15/3510135-11$15.00/0.

  20. Methylphenidate during early consolidation affects long-term associative memory retrieval depending on baseline catecholamines.

    PubMed

    Wagner, Isabella C; van Buuren, Mariët; Bovy, Leonore; Morris, Richard G; Fernández, Guillén

    2017-02-01

    Synaptic memory consolidation is thought to rely on catecholaminergic signaling. Eventually, it is followed by systems consolidation, which embeds memories in a neocortical network. Although this sequence was demonstrated in rodents, it is unclear how catecholamines affect memory consolidation in humans. Here, we tested the effects of catecholaminergic modulation on synaptic and subsequent systems consolidation. We expected enhanced memory performance and increased neocortical engagement during delayed retrieval. Additionally, we tested if this effect was modulated by individual differences in a cognitive proxy measure of baseline catecholamine synthesis capacity. Fifty-three healthy males underwent a between-subjects, double-blind, placebo-controlled procedure across 2 days. On day 1, subjects studied and retrieved object-location associations and received 20 mg of methylphenidate or placebo. Drug intake was timed so that methylphenidate was expected to affect early consolidation but not encoding or retrieval. Memory was tested again while subjects were scanned three days later. Methylphenidate did not facilitate memory performance, and there was no significant group difference in activation during delayed retrieval. However, memory representations differed between groups depending on baseline catecholamines. The placebo group showed increased activation in occipito-temporal regions but decreased connectivity with the hippocampus, associated with lower baseline catecholamine synthesis capacity. The methylphenidate group showed stronger activation in the postcentral gyrus, associated with higher baseline catecholamine synthesis capacity. Altogether, methylphenidate during early consolidation did not foster long-term memory performance, but it affected retrieval-related neural processes depending on individual levels of baseline catecholamines.

  1. Individual differences in temperament and behavioral management practices for nonhuman primates

    PubMed Central

    Coleman, Kristine

    2011-01-01

    Effective behavioral management plans are tailored to unique behavioral patterns of each individual species. However, even within a species behavioral needs of individuals can vary. Factors such as age, sex, and temperament can affect behavioral needs of individuals. While some of these factors, such as age and sex, are taken into account, other factors, such as an individual’s temperament, are rarely specifically provided for in behavioral management plans. However, temperament may affect how animals respond to socialization, positive reinforcement training and other forms of enrichment. This review will examine how individual differences in temperament might affect, or be affected by, behavioral management practices for captive primates. Measuring temperament may help us predict outcome of social introductions. It can also predict which animals may be difficult to train using traditional methods. Further, knowledge of temperament may be able to help identify individuals at risk for development of behavioral problems. Taken together, understanding individual differences in temperament of captive primates can help guide behavioral management decisions. PMID:22518067

  2. EVENT PREDICTION AND AFFECTIVE FORECASTING IN DEPRESSIVE COGNITION: USING EMOTION AS INFORMATION ABOUT THE FUTURE.

    PubMed

    Marroquín, Brett; Nolen-Hoeksema, Susan

    2015-02-01

    Depression is characterized by a bleak view of the future, but the mechanisms through which depressed mood is integrated into basic processes of future-oriented cognition are unclear. We hypothesized that dysphoric individuals' predictions of what will happen in the future ( likelihood estimation ) and how the future will feel ( affective forecasting ) are attributable to individual differences in incorporating present emotion as judgment-relevant information. Dysphoric individuals ( n = 77) made pessimistic likelihood estimates and blunted positive affective forecasts relative to controls ( n = 84). These differences were mediated by dysphoric individuals' tendencies to rely on negative emotion as information more than controls-and on positive emotion less-independent of anhedonia. These findings suggest that (1) blunted positive affective forecasting is a distinctive component of depressive future-oriented cognition, and (2) future-oriented cognitive processes are linked not just to current emotional state, but also to individual variation in using that emotion as information. This role of individual differences elucidates basic mechanisms in future-oriented cognition, and suggests routes for intervention on interrelated cognitive and affective processes in depression.

  3. Identification of additive, dominant, and epistatic variation conferred by key genes in cellulose biosynthesis pathway in Populus tomentosa†

    PubMed Central

    Du, Qingzhang; Tian, Jiaxing; Yang, Xiaohui; Pan, Wei; Xu, Baohua; Li, Bailian; Ingvarsson, Pär K.; Zhang, Deqiang

    2015-01-01

    Economically important traits in many species generally show polygenic, quantitative inheritance. The components of genetic variation (additive, dominant and epistatic effects) of these traits conferred by multiple genes in shared biological pathways remain to be defined. Here, we investigated 11 full-length genes in cellulose biosynthesis, on 10 growth and wood-property traits, within a population of 460 unrelated Populus tomentosa individuals, via multi-gene association. To validate positive associations, we conducted single-marker analysis in a linkage population of 1,200 individuals. We identified 118, 121, and 43 associations (P< 0.01) corresponding to additive, dominant, and epistatic effects, respectively, with low to moderate proportions of phenotypic variance (R2). Epistatic interaction models uncovered a combination of three non-synonymous sites from three unique genes, representing a significant epistasis for diameter at breast height and stem volume. Single-marker analysis validated 61 associations (false discovery rate, Q ≤ 0.10), representing 38 SNPs from nine genes, and its average effect (R2 = 3.8%) nearly 2-fold higher than that identified with multi-gene association, suggesting that multi-gene association can capture smaller individual variants. Moreover, a structural gene–gene network based on tissue-specific transcript abundances provides a better understanding of the multi-gene pathway affecting tree growth and lignocellulose biosynthesis. Our study highlights the importance of pathway-based multiple gene associations to uncover the nature of genetic variance for quantitative traits and may drive novel progress in molecular breeding. PMID:25428896

  4. Heritability of seed weight in Maritime pine, a relevant trait in the transmission of environmental maternal effects

    PubMed Central

    Zas, R; Sampedro, L

    2015-01-01

    Quantitative seed provisioning is an important life-history trait with strong effects on offspring phenotype and fitness. As for any other trait, heritability estimates are vital for understanding its evolutionary dynamics. However, being a trait in between two generations, estimating additive genetic variation of seed provisioning requires complex quantitative genetic approaches for distinguishing between true genetic and environmental maternal effects. Here, using Maritime pine as a long-lived plant model, we quantified additive genetic variation of cone and seed weight (SW) mean and SW within-individual variation. We used a powerful approach combining both half-sib analysis and parent–offspring regression using several common garden tests established in contrasting environments to separate G, E and G × E effects. Both cone weight and SW mean showed significant genetic variation but were also influenced by the maternal environment. Most of the large variation in SW mean was attributable to additive genetic effects (h2=0.55–0.74). SW showed no apparent G × E interaction, particularly when accounting for cone weight covariation, suggesting that the maternal genotypes actively control the SW mean irrespective of the amount of resources allocated to cones. Within-individual variation in SW was low (12%) relative to between-individual variation (88%), and showed no genetic variation but was largely affected by the maternal environment, with greater variation in the less favourable sites for pine growth. In summary, results were very consistent between the parental and the offspring common garden tests, and clearly indicated heritable genetic variation for SW mean but not for within-individual variation in SW. PMID:25160045

  5. Improving wait times to care for individuals with multimorbidities and complex conditions using value stream mapping.

    PubMed

    Sampalli, Tara; Desy, Michel; Dhir, Minakshi; Edwards, Lynn; Dickson, Robert; Blackmore, Gail

    2015-04-05

    Recognizing the significant impact of wait times for care for individuals with complex chronic conditions, we applied a LEAN methodology, namely - an adaptation of Value Stream Mapping (VSM) to meet the needs of people with multiple chronic conditions and to improve wait times without additional resources or funding. Over an 18-month time period, staff applied a patient-centric approach that included LEAN methodology of VSM to improve wait times to care. Our framework of evaluation was grounded in the needs and perspectives of patients and individuals waiting to receive care. Patient centric views were obtained through surveys such as Patient Assessment of Chronic Illness Care (PACIC) and process engineering based questions. In addition, LEAN methodology, VSM was added to identify non-value added processes contributing to wait times. The care team successfully reduced wait times to 2 months in 2014 with no wait times for care anticipated in 2015. Increased patient engagement and satisfaction are also outcomes of this innovative initiative. In addition, successful transformations and implementation have resulted in resource efficiencies without increase in costs. Patients have shown significant improvements in functional health following Integrated Chronic Care Service (ICCS) intervention. The methodology will be applied to other chronic disease management areas in Capital Health and the province. Wait times to care in the management of multimoribidities and other complex conditions can add a significant burden not only on the affected individuals but also on the healthcare system. In this study, a novel and modified LEAN methodology has been applied to embed the voice of the patient in care delivery processes and to reduce wait times to care in the management of complex chronic conditions. © 2015 by Kerman University of Medical Sciences.

  6. Transdiagnostic deviant facial recognition for implicit negative emotion in autism and schizophrenia.

    PubMed

    Ciaramidaro, Angela; Bölte, Sven; Schlitt, Sabine; Hainz, Daniela; Poustka, Fritz; Weber, Bernhard; Freitag, Christine; Walter, Henrik

    2018-02-01

    Impaired facial affect recognition (FAR) is observed in schizophrenia and autism spectrum disorder (ASD) and has been linked to amygdala and fusiform gyrus dysfunction. ASD patient's impairments seem to be more pronounced during implicit rather than explicit FAR, whereas for schizophrenia data are inconsistent. However, there are no studies comparing both patient groups in an identical design. The aim of this three-group study was to identify (i) whether FAR alterations are equally present in both groups, (ii) whether they are present rather during implicit or explicit FAR, (iii) and whether they are conveyed by similar or disorder-specific neural mechanisms. Using fMRI, we investigated neural activation during explicit and implicit negative and neutral FAR in 33 young-adult individuals with ASD, 20 subjects with paranoid-schizophrenia and 25 IQ- and gender-matched controls individuals. Differences in activation patterns between each clinical group and controls, respectively were found exclusively for implicit FAR in amygdala and fusiform gyrus. In addition, the ASD group additionally showed reduced activations in medial prefrontal cortex (PFC), bilateral dorso-lateral PFC, ventro-lateral PFC, posterior-superior temporal sulcus and left temporo-parietal junction. Although subjects with ASD showed more widespread altered activation patterns, a direct comparison between both patient groups did not show disorder-specific deficits in neither patient group. In summary, our findings are consistent with a common neural deficit during implicit negative facial affect recognition in schizophrenia and autism spectrum disorders. Copyright © 2017 Elsevier B.V. and ECNP. All rights reserved.

  7. Comparing the Validity of Informant- and Self-reports of Personality Using Laboratory Indices of Emotional Responding as Criterion Variables

    PubMed Central

    Lieberman, Lynne; Liu, Huiting; Huggins, Ashley A.; Katz, Andrea C.; Zvolensky, Michael J.; Shankman, Stewart A.

    2016-01-01

    Personality traits relate to risk for psychopathology and can inform predictions about treatment outcome. In an effort to obtain a comprehensive index of personality, informant-reports of personality are sometimes obtained in addition to self-reports of personality. However, there is limited research comparing the validity of self- and informant-reports of personality, particularly among those with internalizing psychopathology. This is important given that informants may provide an additional (and perhaps different) perspective on individuals’ personality. The present study therefore compared how both reports of positive affectivity (PA) and negative affectivity (NA) relate to psychophysiological and subjective measures of emotional responding to positive and negative stimuli. Given that our sample (n = 117) included individuals with no history of psychopathology, as well as individuals with major depressive disorder (MDD) and/or panic disorder (PD), we were also able to explore whether these internalizing diagnoses moderated the association between personality reports and measures of emotional responding. Informant-reported PA predicted physiological responses to positive stimuli (but not negative). Informant reported NA predicted physiological responses to negative stimuli (but not positive). Self-reported personality did not predict physiological responding, but did predict subjectively measured emotional responding (NA for negative responding; PA for positive responding). Diagnoses of internalizing psychopathology (PD or MDD) did not moderate these associations. Results suggest self- and informant-reports of personality may each provide valid indices of an individual’s emotional response tendencies, but predict different aspects of those tendencies. PMID:27273802

  8. Metal stress in zooplankton diapause production: post-hatching response.

    PubMed

    Aránguiz-Acuña, Adriana; Pérez-Portilla, Pablo

    2017-04-01

    Aquatic organisms commonly respond to harsh conditions by forming diapausing stages, which enable populations to survive adverse periods forming egg banks. Production of diapausing eggs is frequently observed in monogonont rotifers, previously changing from asexual to partial sexual reproduction (mixis). In despite that zooplankton are frequently used in ecotoxicological assessment because of their sensitivity to various toxicants and their important role in the ecosystems, toxicity evaluations often consider the directly exposed population produced by parthenogenetic reproduction, exclusively. We assessed experimentally effects of exposure to metals on mixis delay and fitness of hatchlings of the rotifer Brachionus plicatilis obtained from a brackish water lagoon with high metal content, especially copper. We show that sub-lethal concentrations of copper affected traits related to sexual reproduction and diapausing egg production in the rotifer. Copper addition did not delay the start of mixis, suggesting that rapid initiation of mixis is promoted in risky environments, according to the hypothesis of mixis as an escape strategy. Higher investment in mixis was obtained when individuals were exposed to metal. Addition of copper negatively affected the hatching success of diapausing eggs and performance of hatchlings. Nevertheless, these effects were greater for individuals formed in non-metal conditions, suggesting an adaptive advantage of populations from natural sediments exposed to copper. These results highlight the ecological and evolutionary consequences of the presence of metals in freshwater environments by modulating diapause adaptive efficacy and the selective process in egg banks.

  9. Precortical phase of Alzheimer’s disease (AD)-related tau cytoskeletal pathology

    PubMed Central

    Stratmann, Katharina; Heinsen, Helmut; Korf, Horst-Werner; Del Turco, Domenico; Ghebremedhin, Estifanos; Seidel, Kay; Bouzrou, Mohamed; Grinberg, Lea T.; Bohl, Jürgen; Wharton, Stephen B; den Dunnen, Wilfred; Rüb, Udo

    2015-01-01

    Alzheimer’s disease (AD) represents the most frequent progressive neuropsychiatric disorder worldwide leading to dementia and accounts for 60 to 70% of demented individuals. In view of the early appearance of neuronal deposits of the hyperphosphorylated cytoskeletal protein tau in the transentorhinal and entorhinal regions of the allocortex (i.e. in Braak and Braak AD stage I in the evolution of the AD-related cortical tau cytoskeletal pathology) it has been believed for a long time that these allocortical regions represent the first brain targets of the AD-related tau cytoskeletal pathology. However, recent pathoanatomical studies suggested that the subcortical brain nuclei that send efferent projections to the transentorhinal and entorhinal regions may also comprise AD-related cytoskeletal changes already at very early Braak and Braak AD stages. In order to corroborate these initial results we systematically investigated the presence and extent of the AD-related cytoskeletal pathology in serial thick tissue sections through all the subcortical nuclei known to send efferent projections to these vulnerable allocortical regions of three individuals with Braak and Braak AD stage 0 and fourteen individuals with Braak and Braak AD stage I by means of immunostainings with the anti-tau antibody AT8. These investigations revealed consistent AT8 immunoreactive neuronal tau cytoskeletal pathology in a subset of these subcortical nuclei (i.e. medial septal nucleus, nuclei of the vertical and horizontal limbs of the diagonal band of Broca, basal nucleus of Meynert; claustrum; hypothalamic ventromedial, tuberomamillary and supramamillary nuclei, perifornical region and lateral area; thalamic central medial, laterodorsal, subparafascicular, and central lateral nuclei, medial pulvinar and limitans-suprageniculate complex; peripeduncular nucleus, dopaminergic substantia nigra and ventral tegmental area, periaqueductal gray, midbrain and pontine dorsal raphe nuclei, locus coeruleus, and parabrachial nuclei) in the Braak and Braak AD stage 0 individuals and in all of these subcortical nuclei in the Braak and Braak AD stage I individuals. The widespread affection of the subcortical nuclei in our Braak and Braak AD stage I individuals shows that the extent of the subcortical tau cytoskeletal pathology in this AD stage has been considerably underestimated during the last decades. In addition, our novel findings in the Braak and Braak AD stage 0 individuals support the concept that subcortical nuclei become already affected during an early ‘pre-cortical’ evolutional phase before the first AD-related cytoskeletal changes occur in the well-known cortical predilection sites of the mediobasal temporal lobe (i.e. transentorhinal and entorhinal regions). In addition, our new findings indicate that the AD-related tau cytoskeletal pathology by no means is confined to single subcortical nuclei of Braak and Braak AD stage 0 individuals, but may develop in a large variety of their subcortical nuclei interconnected with the allocortical entorhinal and transentorhinal regions. Accordingly, these very early involved subcortical brain regions may represent the origin of the AD-related tau cytoskeletal pathology, from where the neuronal cytoskeletal pathology takes an ascending course towards the secondarily affected allocortex and spreads transneuronally along anatomical pathways and interconnectivities in predictable and stereotypical sequences PMID:26193084

  10. Individual-level socioeconomic status and community-level inequality as determinants of stigma towards persons living with HIV who inject drugs in Thai Nguyen, Vietnam.

    PubMed

    Lim, Travis; Zelaya, Carla; Latkin, Carl; Quan, Vu Minh; Frangakis, Constantine; Ha, Tran Viet; Minh, Nguyen Le; Go, Vivian

    2013-11-13

    HIV infection may be affected by multiple complex socioeconomic status (SES) factors, especially individual socioeconomic disadvantage and community-level inequality. At the same time, stigma towards HIV and marginalized groups has exacerbated persistent concentrated epidemics among key populations, such as persons who inject drugs (PWID) in Vietnam. Stigma researchers argue that stigma fundamentally depends on the existence of economic power differences in a community. In rapidly growing economies like Vietnam, the increasing gap in income and education levels, as well as an individual's absolute income and education, may create social conditions that facilitate stigma related to injecting drug use and HIV. A cross-sectional baseline survey assessing different types of stigma and key socioeconomic characteristics was administered to 1674 PWID and 1349 community members living in physical proximity throughout the 32 communes in Thai Nguyen province, Vietnam. We created four stigma scales, including HIV-related and drug-related stigma reported by both PWID and community members. We then used ecologic Spearman's correlation, ordinary least-squares regression and multi-level generalized estimating equations to examine community-level inequality associations, individual-level SES associations and multi-level SES associations with different types of stigma, respectively. There was little urban-rural difference in stigma among communes. Higher income inequality was marginally associated with drug-related stigma reported by community members (p=0.087), and higher education inequality was significantly associated with higher HIV-related stigma reported by both PWID and community members (p<0.05). For individuals, higher education was significantly associated with lower stigma (HIV and drug related) reported by both PWID and community members. Part-time employed PWID reported more experiences and perceptions of drug-related stigma, while conversely unemployed community members reported enacting lower drug-related stigma. Multi-level analysis revealed that the relationship between education inequality and HIV-related stigma is superseded by the effect of individual-level education. The results of the study confirm that socioeconomic factors at both the individual level and community level affect different types of stigma in different ways. Attention should be paid to these differences when planning structural or educational interventions to reduce stigma, and additional research should investigate the mechanisms with which SES and inequality affect social relationships and, in turn, stigma.

  11. Individual-level socioeconomic status and community-level inequality as determinants of stigma towards persons living with HIV who inject drugs in Thai Nguyen, Vietnam

    PubMed Central

    Lim, Travis; Zelaya, Carla; Latkin, Carl; Quan, Vu Minh; Frangakis, Constantine; Ha, Tran Viet; Minh, Nguyen Le; Go, Vivian

    2013-01-01

    Introduction HIV infection may be affected by multiple complex socioeconomic status (SES) factors, especially individual socioeconomic disadvantage and community-level inequality. At the same time, stigma towards HIV and marginalized groups has exacerbated persistent concentrated epidemics among key populations, such as persons who inject drugs (PWID) in Vietnam. Stigma researchers argue that stigma fundamentally depends on the existence of economic power differences in a community. In rapidly growing economies like Vietnam, the increasing gap in income and education levels, as well as an individual's absolute income and education, may create social conditions that facilitate stigma related to injecting drug use and HIV. Methods A cross-sectional baseline survey assessing different types of stigma and key socioeconomic characteristics was administered to 1674 PWID and 1349 community members living in physical proximity throughout the 32 communes in Thai Nguyen province, Vietnam. We created four stigma scales, including HIV-related and drug-related stigma reported by both PWID and community members. We then used ecologic Spearman's correlation, ordinary least-squares regression and multi-level generalized estimating equations to examine community-level inequality associations, individual-level SES associations and multi-level SES associations with different types of stigma, respectively. Results There was little urban–rural difference in stigma among communes. Higher income inequality was marginally associated with drug-related stigma reported by community members (p=0.087), and higher education inequality was significantly associated with higher HIV-related stigma reported by both PWID and community members (p<0.05). For individuals, higher education was significantly associated with lower stigma (HIV and drug related) reported by both PWID and community members. Part-time employed PWID reported more experiences and perceptions of drug-related stigma, while conversely unemployed community members reported enacting lower drug-related stigma. Multi-level analysis revealed that the relationship between education inequality and HIV-related stigma is superseded by the effect of individual-level education. Conclusions The results of the study confirm that socioeconomic factors at both the individual level and community level affect different types of stigma in different ways. Attention should be paid to these differences when planning structural or educational interventions to reduce stigma, and additional research should investigate the mechanisms with which SES and inequality affect social relationships and, in turn, stigma. PMID:24242257

  12. Regulatory focus moderates the relationship between task control and physiological and psychological markers of stress: a work simulation study.

    PubMed

    Parker, Stacey L; Laurie, Kaitlan R; Newton, Cameron J; Jimmieson, Nerina L

    2014-12-01

    This experiment examined whether trait regulatory focus moderates the effects of task control on stress reactions during a demanding work simulation. Regulatory focus describes two ways in which individuals self-regulate toward desired goals: promotion and prevention. As highly promotion-focused individuals are oriented toward growth and challenge, it was expected that they would show better adaptation to demanding work under high task control. In contrast, as highly prevention-focused individuals are oriented toward safety and responsibility they were expected to show better adaptation under low task control. Participants (N=110) completed a measure of trait regulatory focus and then three trials of a demanding inbox activity under either low, neutral, or high task control. Heart rate variability (HRV), affective reactions (anxiety & task dissatisfaction), and task performance were measured at each trial. As predicted, highly promotion-focused individuals found high (compared to neutral) task control stress-buffering for performance. Moreover, highly prevention-focused individuals found high (compared to low) task control stress-exacerbating for dissatisfaction. In addition, highly prevention-focused individuals found low task control stress-buffering for dissatisfaction, performance, and HRV. However, these effects of low task control for highly prevention-focused individuals depended on their promotion focus. Crown Copyright © 2014. Published by Elsevier B.V. All rights reserved.

  13. Aberrant NPM Expression during Nf1Loss and Its Role in Promoting Proliferation

    DTIC Science & Technology

    2006-12-01

    affected by NF1 exhibiting optic pathway gliomas1-3. As previously shown for other tumor pre-disposition syndromes , individuals with NF1 begin life...is a common autosomal dominant tumor predisposition syndrome in which affected individuals develop astrocytic brain tumors (gliomas). To determine...predisposition syndrome in which affected individuals develop astrocytic brain tumors (gliomas). To determine how the NF1 gene product

  14. Community Involvement in Developing Policies for Genetic Testing: Assessing the Interests and Experiences of Individuals Affected by Genetic Conditions

    PubMed Central

    Gollust, Sarah E.; Apse, Kira; Fuller, Barbara P.; Miller, Paul Steven; Biesecker, Barbara B.

    2005-01-01

    Because the introduction of genetic testing into clinical medicine and public health creates concerns for the welfare of individuals affected with genetic conditions, those individuals should have a role in policy decisions about testing. Mechanisms for promoting participation range from membership on advisory committees to community dialogues to surveys that provide evidence for supporting practice guidelines. Surveys can assess the attitudes and the experiences of members of an affected group and thus inform discussions about that community’s concerns regarding the appropriate use of a genetic test. Results of a survey of individuals affected with inherited dwarfism show how data can be used in policy and clinical-practice contexts. Future research of affected communities’ interests should be pursued so that underrepresented voices can be heard. PMID:15623855

  15. Emotional Stress-reactivity and Positive Affect among College Students: The Role of Depression History

    PubMed Central

    O’Hara, Ross E.; Armeli, Stephen; Boynton, Marcella H.; Tennen, Howard

    2014-01-01

    Multiple theories posit that people with a history of depression are at higher risk for a depressive episode than people who have never experienced depression, which may be partly due to differences in stress-reactivity. Additionally, both the dynamic model of affect and the broaden-and-build theory suggest that stress and positive affect interact to predict negative affect, but this moderation has never been tested in the context of depression history. The current study used multilevel modeling to examine these issues among 1549 college students with or without a history of depression. Students completed a 30-day online diary study in which they reported daily their perceived stress, positive affect, and negative affect (including depression, anxiety, and hostility). On days characterized by higher than usual stress, students with a history of depression reported greater decreases in positive affect and greater increases in depressed affect than students with no history. Furthermore, the relations between daily stress and both depressed and anxious affect were moderated by daily positive affect among students with remitted depression. These results indicate that students with a history of depression show greater stress-reactivity even when in remission, which may place them at greater risk for recurrence. These individuals may also benefit more from positive affect on higher stress days despite being less likely to experience positive affect on such days. The current findings have various implications both clinically and for research on stress, mood, and depression. PMID:24274764

  16. Asthma, hypersensitivity pneumonitis and other respiratory diseases caused by metalworking fluids.

    PubMed

    Rosenman, Kenneth D

    2009-04-01

    To highlight advances in understanding the respiratory disease associated with metal machining, a common work process involving approximately 1.2 million workers in the USA. Recent studies emphasize that work-related asthma and hypersensitivity pneumonitis continue to be caused by exposure to metalworking fluid. Identification of an individual patient indicates the need for follow-up investigations at the work site to prevent additional disease and/or identify additional effected individuals. Identification of the causal agent for hypersensitivity pneumonitis has centered on microbial contamination of metalworking fluids with a number of studies focusing on Mycobacterium immunogenum. Both asthma and hypersensitivity pneumonitis occur among workers exposed to metalworking fluid. The incidence of these diseases among such workers is unknown. Outbreaks of these conditions continue to be identified among metal machinists. Whether these are true outbreaks associated with some breakdown in workplace controls or, rather the recognition of ongoing endemic disease that is typically misdiagnosed as pneumonia or common adult onset asthma, needs further evaluation. Further work to elucidate the specific causal agent(s) is necessary to affect effective workplace controls. Treating an identified individual case as an index case with a follow-up workplace investigation will only be possible if practicing physicians interact with public health authorities to report newly diagnosed cases.

  17. Unbroken mirror neurons in autism spectrum disorders.

    PubMed

    Fan, Yang-Teng; Decety, Jean; Yang, Chia-Yen; Liu, Ji-Lin; Cheng, Yawei

    2010-09-01

    The 'broken mirror' theory of autism, which proposes that a dysfunction of the human mirror neuron system (MNS) is responsible for the core social and cognitive deficits in individuals with autism spectrum disorders (ASD), has received considerable attention despite weak empirical evidence. In this electroencephalographic study, we examined mu suppression, as an indicator of sensorimotor resonance, concurrent with oculomotor performance while individuals (n = 20) with ASD and control participants (n = 20) either executed hand actions or observed hand actions or a moving dot. No difference in visual attention between groups was found as indicated by fixation duration and normalized fixation number on the presented stimuli. The mu suppression over the sensorimotor cortex was significantly affected by experimental conditions, but not by group membership, nor by the interaction between groups and conditions. Individuals with ASD, similar to the controls, exhibited stronger mu suppression when watching hand actions relative to a moving dot. Notably, participants with ASD failed to imitate the observed actions while their mu suppression indicating the MNS activity was intact. In addition, the mu suppression during the observation of hand actions was positively associated with the communication competence of individuals with ASD. Our study clearly challenges the broken mirror theory of autism. The functioning of the mirror neuron system might be preserved in individuals with ASD to a certain degree. Less mu suppression to action observation coupled with more communicational severity can reflect the symptom heterogeneity of ASD. Additional research needs to be done, and more caution should be used when reaching out to the media.

  18. The impact of diabetes prevention on labour force participation and income of older Australians: an economic study

    PubMed Central

    2012-01-01

    Background Globally, diabetes is estimated to affect 246 million people and is increasing. In Australia diabetes has been made a national health priority. While the direct costs of treating diabetes are substantial, and rising, the indirect costs are considered greater. There is evidence that interventions to prevent diabetes are effective, and cost-effective, but the impact on labour force participation and income has not been assessed. In this study we quantify the potential impact of implementing a diabetes prevention program, using screening and either metformin or a lifestyle intervention on individual economic outcomes of pre-diabetic Australians aged 45-64. Methods The output of an epidemiological microsimulation model of the reduction in prevalence of diabetes from a lifestyle or metformin intervention, and another microsimulation model, Health&WealthMOD, of health and the associated impacts on labour force participation, personal income, savings, government revenue and expenditure were used to quantify the estimated outcomes of the two interventions. Results An additional 753 person years in the labour force would have been achieved from 1993 to 2003 for the male cohort aged 60-64 years in 2003, if a lifestyle intervention had been introduced in 1983; with 890 person years for the equivalent female group. The impact on labour force participation was lower for the metformin intervention, and increased with age for both interventions. The male cohort aged 60-64 years in 2003 would have earned an additional $30 million in income with the metformin intervention, and the equivalent female cohort would have earned an additional $25 million. If the lifestyle intervention was introduced, the same male and female cohorts would have earned an additional $34 million and $28 million respectively from 1993 to 2003. For the individuals involved, on average, males would have earned an additional $44,600 per year and females an additional $31,800 per year, if they had continued to work as a result of preventing diabetes. Conclusions In addition to improved health and wellbeing, considerable benefits to individuals, in terms of both additional working years and increased personal income, could be made by introducing either a lifestyle or metformin intervention to prevent diabetes. PMID:22225701

  19. The impact of diabetes prevention on labour force participation and income of older Australians: an economic study.

    PubMed

    Passey, Megan E; Shrestha, Rupendra N; Bertram, Melanie Y; Schofield, Deborah J; Vos, Theo; Callander, Emily J; Percival, Richard; Kelly, Simon J

    2012-01-06

    Globally, diabetes is estimated to affect 246 million people and is increasing. In Australia diabetes has been made a national health priority. While the direct costs of treating diabetes are substantial, and rising, the indirect costs are considered greater. There is evidence that interventions to prevent diabetes are effective, and cost-effective, but the impact on labour force participation and income has not been assessed. In this study we quantify the potential impact of implementing a diabetes prevention program, using screening and either metformin or a lifestyle intervention on individual economic outcomes of pre-diabetic Australians aged 45-64. The output of an epidemiological microsimulation model of the reduction in prevalence of diabetes from a lifestyle or metformin intervention, and another microsimulation model, Health&WealthMOD, of health and the associated impacts on labour force participation, personal income, savings, government revenue and expenditure were used to quantify the estimated outcomes of the two interventions. An additional 753 person years in the labour force would have been achieved from 1993 to 2003 for the male cohort aged 60-64 years in 2003, if a lifestyle intervention had been introduced in 1983; with 890 person years for the equivalent female group. The impact on labour force participation was lower for the metformin intervention, and increased with age for both interventions. The male cohort aged 60-64 years in 2003 would have earned an additional $30 million in income with the metformin intervention, and the equivalent female cohort would have earned an additional $25 million. If the lifestyle intervention was introduced, the same male and female cohorts would have earned an additional $34 million and $28 million respectively from 1993 to 2003. For the individuals involved, on average, males would have earned an additional $44,600 per year and females an additional $31,800 per year, if they had continued to work as a result of preventing diabetes. In addition to improved health and wellbeing, considerable benefits to individuals, in terms of both additional working years and increased personal income, could be made by introducing either a lifestyle or metformin intervention to prevent diabetes.

  20. The occurrence of noncoagulating milk and the association of bovine milk coagulation properties with genetic variants of the caseins in 3 Scandinavian dairy breeds.

    PubMed

    Poulsen, N A; Bertelsen, H P; Jensen, H B; Gustavsson, F; Glantz, M; Månsson, H Lindmark; Andrén, A; Paulsson, M; Bendixen, C; Buitenhuis, A J; Larsen, L B

    2013-08-01

    Substantial variation in milk coagulation properties has been observed among dairy cows. Consequently, raw milk from individual cows and breeds exhibits distinct coagulation capacities that potentially affect the technological properties and milk processing into cheese. This variation is largely influenced by protein composition, which is in turn affected by underlying genetic polymorphisms in the major milk proteins. In this study, we conducted a large screening on 3 major Scandinavian breeds to resolve the variation in milk coagulation traits and the frequency of milk with impaired coagulation properties (noncoagulation). In total, individual coagulation properties were measured on morning milk collected from 1,299 Danish Holstein (DH), Danish Jersey (DJ), and Swedish Red (SR) cows. The 3 breeds demonstrated notable interbreed differences in coagulation properties, with DJ cows exhibiting superior coagulation compared with the other 2 breeds. In addition, milk samples from 2% of DH and 16% of SR cows were classified as noncoagulating. Furthermore, the cows were genotyped for major genetic variants in the αS1- (CSN1S1), β- (CSN2), and κ-casein (CSN3) genes, revealing distinct differences in variant frequencies among breeds. Allele I of CSN2, which had not formerly been screened in such a high number of cows in these Scandinavian breeds, showed a frequency around 7% in DH and DJ, but was not detected in SR. Genetic polymorphisms were significantly associated with curd firming rate and rennet coagulation time. Thus, CSN1S1 C, CSN2 B, and CSN3 B positively affected milk coagulation, whereas CSN2 A(2), in particular, had a negative effect. In addition to the influence of individual casein genes, the effects of CSN1S1-CSN2-CSN3 composite genotypes were also examined, and revealed strong associations in all breeds, which more or less reflected the single gene results. Overall, milk coagulation is under the influence of additive genetic variation. Optimal milk for future cheese production can be ensured by monitoring the frequency of unfavorable variants and thus preventing an increase in the number of cows producing milk with impaired coagulation. Selective breeding for variants associated with superior milk coagulation can potentially increase raw milk quality and cheese yield in all 3 Scandinavian breeds. Copyright © 2013 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  1. Impact of individual resilience and safety climate on safety performance and psychological stress of construction workers: A case study of the Ontario construction industry.

    PubMed

    Chen, Yuting; McCabe, Brenda; Hyatt, Douglas

    2017-06-01

    The construction industry has hit a plateau in terms of safety performance. Safety climate is regarded as a leading indicator of safety performance; however, relatively little safety climate research has been done in the Canadian construction industry. Safety climate may be geographically sensitive, thus it is necessary to examine how the construct of safety climate is defined and used to improve safety performance in different regions. On the other hand, more and more attention has been paid to job related stress in the construction industry. Previous research proposed that individual resilience may be associated with a better safety performance and may help employees manage stress. Unfortunately, few empirical research studies have examined this hypothesis. This paper aims to examine the role of safety climate and individual resilience in safety performance and job stress in the Canadian construction industry. The research was based on 837 surveys collected in Ontario between June 2015 and June 2016. Structural equation modeling (SEM) techniques were used to explore the impact of individual resilience and safety climate on physical safety outcomes and on psychological stress among construction workers. The results show that safety climate not only affected construction workers' safety performance but also indirectly affected their psychological stress. In addition, it was found that individual resilience had a direct negative impact on psychological stress but had no impact on physical safety outcomes. These findings highlight the roles of both organizational and individual factors in individual safety performance and in psychological well-being. Construction organizations need to not only monitor employees' safety performance, but also to assess their employees' psychological well-being. Promoting a positive safety climate together with developing training programs focusing on improving employees' psychological health - especially post-trauma psychological health - can improve the safety performance of an organization. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. An improved null model for assessing the net effects of multiple stressors on communities.

    PubMed

    Thompson, Patrick L; MacLennan, Megan M; Vinebrooke, Rolf D

    2018-01-01

    Ecological stressors (i.e., environmental factors outside their normal range of variation) can mediate each other through their interactions, leading to unexpected combined effects on communities. Determining whether the net effect of stressors is ecologically surprising requires comparing their cumulative impact to a null model that represents the linear combination of their individual effects (i.e., an additive expectation). However, we show that standard additive and multiplicative null models that base their predictions on the effects of single stressors on community properties (e.g., species richness or biomass) do not provide this linear expectation, leading to incorrect interpretations of antagonistic and synergistic responses by communities. We present an alternative, the compositional null model, which instead bases its predictions on the effects of stressors on individual species, and then aggregates them to the community level. Simulations demonstrate the improved ability of the compositional null model to accurately provide a linear expectation of the net effect of stressors. We simulate the response of communities to paired stressors that affect species in a purely additive fashion and compare the relative abilities of the compositional null model and two standard community property null models (additive and multiplicative) to predict these linear changes in species richness and community biomass across different combinations (both positive, negative, or opposite) and intensities of stressors. The compositional model predicts the linear effects of multiple stressors under almost all scenarios, allowing for proper classification of net effects, whereas the standard null models do not. Our findings suggest that current estimates of the prevalence of ecological surprises on communities based on community property null models are unreliable, and should be improved by integrating the responses of individual species to the community level as does our compositional null model. © 2017 John Wiley & Sons Ltd.

  3. Family and home in cognitive rehabilitation after brain injury: The importance of family oriented interventions.

    PubMed

    Wulf-Andersen, Camilla; Mogensen, Jesper

    2017-01-01

    Acquired brain injury (ABI) severely affects both the injured patient and her/his family. This fact alone calls for a therapeutic approach addressing not only the individual victim of ABI but also her/his family. Additionally, the optimal outcome of posttraumatic cognitive rehabilitation may be best obtained by supplementing the institution-based cognitive training with home-based training. Moving cognitive training and other therapeutic interventions into the home environment does, however, constitute an additional challenge to the family structure and psychological wellbeing of all family members. We presently argue in favour of an increased utilization of family-based intervention programs for the families of brain injured patients - in general and especially in case of utilization of home-based rehabilitative training.

  4. Effects of three global change drivers on terrestrial C:N:P stoichiometry: a global synthesis.

    PubMed

    Yue, Kai; Fornara, Dario A; Yang, Wanqin; Peng, Yan; Li, Zhijie; Wu, Fuzhong; Peng, Changhui

    2017-06-01

    Over the last few decades, there has been an increasing number of controlled-manipulative experiments to investigate how plants and soils might respond to global change. These experiments typically examined the effects of each of three global change drivers [i.e., nitrogen (N) deposition, warming, and elevated CO 2 ] on primary productivity and on the biogeochemistry of carbon (C), N, and phosphorus (P) across different terrestrial ecosystems. Here, we capitalize on this large amount of information by performing a comprehensive meta-analysis (>2000 case studies worldwide) to address how C:N:P stoichiometry of plants, soils, and soil microbial biomass might respond to individual vs. combined effects of the three global change drivers. Our results show that (i) individual effects of N addition and elevated CO 2 on C:N:P stoichiometry are stronger than warming, (ii) combined effects of pairs of global change drivers (e.g., N addition + elevated CO 2 , warming + elevated CO 2 ) on C:N:P stoichiometry were generally weaker than the individual effects of each of these drivers, (iii) additive interactions (i.e., when combined effects are equal to or not significantly different from the sum of individual effects) were more common than synergistic or antagonistic interactions, (iv) C:N:P stoichiometry of soil and soil microbial biomass shows high homeostasis under global change manipulations, and (v) C:N:P responses to global change are strongly affected by ecosystem type, local climate, and experimental conditions. Our study is one of the first to compare individual vs. combined effects of the three global change drivers on terrestrial C:N:P ratios using a large set of data. To further improve our understanding of how ecosystems might respond to future global change, long-term ecosystem-scale studies testing multifactor effects on plants and soils are urgently required across different world regions. © 2017 John Wiley & Sons Ltd.

  5. Descriptive and numeric estimation of risk for psychotic disorders among affected individuals and relatives: Implications for clinical practice

    PubMed Central

    Austin, Jehannine C.; Hippman, Catriona; Honer, William G.

    2013-01-01

    Studies show that individuals with psychotic illnesses and their families want information about psychosis risks for other relatives. However, deriving accurate numeric probabilities for psychosis risk is challenging, and people have difficulty interpreting probabilistic information, thus some have suggested that clinicians should use risk descriptors, such as ‘moderate’ or ‘quite high’, rather than numbers. Little is known about how individuals with psychosis and their family members use quantitative and qualitative descriptors of risk in the specific context of chance for an individual to develop psychosis. We explored numeric and descriptive estimations of psychosis risk among individuals with psychotic disorders and unaffected first-degree relatives. In an online survey, respondents numerically and descriptively estimated risk for an individual to develop psychosis in scenarios where they had: A) no affected family members; and B) an affected sibling. 219 affected individuals and 211 first-degree relatives participated. Affected individuals estimated significantly higher risks than relatives. Participants attributed all descriptors between “very low” and “very high” to probabilities of 1%, 10%, 25% and 50%+. For a given numeric probability, different risk descriptors were attributed in different scenarios. Clinically, brief interventions around risk (using either probabilities or descriptors alone) are vulnerable to miscommunication and potentially profoundly negative consequences –interventions around risk are best suited to in-depth discussion. PMID:22421074

  6. Descriptive and numeric estimation of risk for psychotic disorders among affected individuals and relatives: implications for clinical practice.

    PubMed

    Austin, Jehannine C; Hippman, Catriona; Honer, William G

    2012-03-30

    Studies show that individuals with psychotic illnesses and their families want information about psychosis risks for other relatives. However, deriving accurate numeric probabilities for psychosis risk is challenging, and people have difficulty interpreting probabilistic information; thus, some have suggested that clinicians should use risk descriptors, such as "moderate" or "quite high", rather than numbers. Little is known about how individuals with psychosis and their family members use quantitative and qualitative descriptors of risk in the specific context of chance for an individual to develop psychosis. We explored numeric and descriptive estimations of psychosis risk among individuals with psychotic disorders and unaffected first-degree relatives. In an online survey, respondents numerically and descriptively estimated risk for an individual to develop psychosis in scenarios where they had: A) no affected family members; and B) an affected sibling. Participants comprised 219 affected individuals and 211 first-degree relatives participated. Affected individuals estimated significantly higher risks than relatives. Participants attributed all descriptors between "very low" and "very high" to probabilities of 1%, 10%, 25% and 50%+. For a given numeric probability, different risk descriptors were attributed in different scenarios. Clinically, brief interventions around risk (using either probabilities or descriptors alone) are vulnerable to miscommunication and potentially negative consequences-interventions around risk are best suited to in-depth discussion. Copyright © 2012 Elsevier Ltd. All rights reserved.

  7. Perception-based Impact upon Community Resilience in the Aftermath of Natural Disasters

    NASA Astrophysics Data System (ADS)

    Fernandez, S.; Li, H.

    2008-05-01

    In the event of natural disasters, recovery from the direct and indirect effects of the disaster phenomena are topics of most community emergency response plans. In addition to the direct and indirect impacts that represent changes in activity that can be tied directly to an event, additional perception-based impacts are possible. Usually these perception-based impacts are larger and more difficult to measure or mitigate than direct impacts. These impacts are based primarily on the affected population's changes in attitudes toward a particular neighborhood or region based on fear of a future event or future losses. These impacts can be motivated by fear of future storms or man-caused events, lingering toxic contamination that may or may not have been removed, and any other behavior by individuals that cannot be explained by actual events or calculated measures of risk or uncertainty. Perception-based impacts are often difficult to estimate directly. In many instaces, case studies of comparable events are used to attempt to develop judgemental estimates of possible future impacts on the area of question. For example, impacts from such events as Love Canal, the Three Mile Island nucear accident, the September 11 attacks, and the Goiana radioactive material spill are used to get a sense of the severity and duration of possible perception-based impacts of a particular event. Perception-based impacts can include additional losses in property value, losses in population (or reduced rates of population due to lower migration rates) that cannot be attributed to actual economic and demographic changes that can be tied to the event directly. Additional perception-based impacts can include long-term worker absenteeism by an asymptomatic public (i.e., the worried well), losses in tourism, losses in cargo at transportation hubs due to fears by shippers and recipients who choose alternative modes of transportation for shipping goods into the affected area. Another proxy for perception-based impacts from man-caused events can be additional security expenditures by government, the private sector, and individuals. This presentation will describe potential methodologies for estimating or anticipating these potential events for generic planning scenarios.

  8. Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

    PubMed

    Srivastava, Anand K; Schwartz, Charles E

    2014-10-01

    Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common developmental disorders present in humans. Combined, they affect between 3 and 5% of the population. Additionally, they can be found together in the same individual thereby complicating treatment. The causative factors (genes, epigenetic and environmental) are quite varied and likely interact so as to further complicate the assessment of an individual patient. Nonetheless, much valuable information has been gained by identifying candidate genes for ID or ASD. Understanding the etiology of either ID or ASD is of utmost importance for families. It allows a determination of the risk of recurrence, the possibility of other comorbidity medical problems, the molecular and cellular nature of the pathobiology and hopefully potential therapeutic approaches. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Using Emotion as Information in Future-Oriented Cognition: Individual Differences in the Context of State Negative Affect

    PubMed Central

    Marroquín, Brett; Boyle, Chloe C.; Nolen-Hoeksema, Susan; Stanton, Annette L.

    2016-01-01

    Predictions about the future are susceptible to mood-congruent influences of emotional state. However, recent work suggests individuals also differ in the degree to which they incorporate emotion into cognition. This study examined the role of such individual differences in the context of state negative emotion. We examined whether trait tendencies to use negative or positive emotion as information affect individuals' predictions of what will happen in the future (likelihood estimation) and how events will feel (affective forecasting), and whether trait influences depend on emotional state. Participants (N=119) reported on tendencies to use emotion as information (“following feelings”), underwent an emotion induction (negative versus neutral), and made likelihood estimates and affective forecasts for future events. Views of the future were predicted by both emotional state and individual differences in following feelings. Whereas following negative feelings affected most future-oriented cognition across emotional states, following positive feelings specifically buffered individuals' views of the future in the negative emotion condition, and specifically for positive future events, a category of future-event prediction especially important in psychological health. Individual differences may confer predisposition toward optimistic or pessimistic expectations of the future in the context of acute negative emotion, with implications for adaptive and maladaptive functioning. PMID:27041783

  10. Adult Attachment Affects Neural Response to Preference-Inferring in Ambiguous Scenarios: Evidence From an fMRI Study

    PubMed Central

    Zhang, Xing; Ran, Guangming; Xu, Wenjian; Ma, Yuanxiao; Chen, Xu

    2018-01-01

    Humans are highly social animals, and the ability to cater to the preferences of other individuals is encouraged by society. Preference-inferring is an important aspect of the theory of mind (TOM). Many previous studies have shown that attachment style is closely related to TOM ability. However, little is known about the effects of adult attachment style on preferences inferring under different levels of certainty. Here, we investigated how adult attachment style affects neural activity underlying preferences inferred under different levels of certainty by using functional magnetic resonance imaging (fMRI). The fMRI results demonstrated that adult attachment influenced the activation of anterior insula (AI) and inferior parietal lobule (IPL) in response to ambiguous preference-inferring. More specifically, in the ambiguous preference condition, the avoidant attached groups exhibited a significantly enhanced activation than secure and anxious attached groups in left IPL; the anxious attached groups exhibited a significantly reduced activation secure attached group in left IPL. In addition, the anxious attached groups exhibited a significantly reduced activation than secure and avoidant attached groups in left AI. These results were also further confirmed by the subsequent PPI analysis. The results from current study suggest that, under ambiguous situations, the avoidant attached individuals show lower sensitivity to the preference of other individuals and need to invest more cognitive resources for preference-reasoning; while compared with avoidant attached group, the anxious attached individuals express high tolerance for uncertainty and a higher ToM proficiency. Results from the current study imply that differences in preference-inferring under ambiguous conditions associated with different levels of individual attachment may explain the differences in interpersonal interaction. PMID:29559932

  11. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

    PubMed

    Mefford, Heather C; Cooper, Gregory M; Zerr, Troy; Smith, Joshua D; Baker, Carl; Shafer, Neil; Thorland, Erik C; Skinner, Cindy; Schwartz, Charles E; Nickerson, Deborah A; Eichler, Evan E

    2009-09-01

    Copy-number variants (CNVs) are substantial contributors to human disease. A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events, which requires the accurate detection of rare CNVs in large numbers of individuals. Cost and throughput issues limit our ability to perform these studies. We have adapted the Illumina BeadXpress SNP genotyping assay and developed an algorithm, SNP-Conditional OUTlier detection (SCOUT), to rapidly and accurately detect both rare and common CNVs in large cohorts. This approach is customizable, cost effective, highly parallelized, and largely automated. We applied this method to screen 69 loci in 1105 children with unexplained intellectual disability, identifying pathogenic variants in 3.1% of these individuals and potentially pathogenic variants in an additional 2.3%. We identified seven individuals (0.7%) with a deletion of 16p11.2, which has been previously associated with autism. Our results widen the phenotypic spectrum of these deletions to include intellectual disability without autism. We also detected 1.65-3.4 Mbp duplications at 16p13.11 in 1.1% of affected individuals and 350 kbp deletions at 15q11.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8% of affected individuals. Compared to published CNVs in controls they are significantly (P = 4.7 x 10(-5) and 0.003, respectively) enriched in these children, supporting previously published hypotheses that they are neurocognitive disease risk factors. More generally, this approach offers a previously unavailable balance between customization, cost, and throughput for analysis of CNVs and should prove valuable for targeted CNV detection in both research and diagnostic settings.

  12. Lifelong physical activity affects mini mental state exam scores in individuals over 55 years of age.

    PubMed

    Nemati Karimooy, Habibollah; Hosseini, Mahmoud; Nemati, Maryam; Esmaily, Habib Ollah

    2012-04-01

    The positive effects of physical activity on cognition have been widely documented. Human studies and the results obtained from animal models of Alzheimer's disease (AD) have shown that if commenced early in life, exercise effectively reduces the development of cognitive deficits caused by aging. In the present study, the scores on Mini Mental State Exam (MMSE) of individuals over 55 years old who had a history of exercising have been compared to those without a history of exercising. This research was carried out on 273 individuals over 55 years of age. The subjects were randomly chosen from different areas of Mashhad and from exercise clubs. Each person completed a personal information form containing data such as demographics in addition to details of their involvement in sporting activity. Subjects were categorized as follows: 1- non-exercised, 2- exercised. The people in group 2 were then divided into non-professionally exercised (with a history of 2-10 years exercising) or professionally--exercised subjects (i.e. people who were currently, or had previously been members of an exercise club and/or had been trained for at least 10 years). Out of 273 subjects questioned in the present study, 229 were males and 44 were females. The MMSE score in men was significantly higher than women (p < 0.001). The exercised individuals of both sexes had significantly higher scores compared to non-exercised group (p < 0.001). There was no significant difference between professionally- exercised individuals of either sex in comparison with exercised ones. It is suggested that lifelong physical activity and exercise affects cognitive performance in old age. Copyright © 2011 Elsevier Ltd. All rights reserved.

  13. Metacognitive Awareness of Facial Affect in Higher-Functioning Children and Adolescents with Autism Spectrum Disorder

    PubMed Central

    Henderson, Heather A.; Newell, Lisa; Jaime, Mark; Mundy, Peter

    2015-01-01

    Higher-functioning participants with and without autism spectrum disorder (ASD) viewed a series of face stimuli, made decisions regarding the affect of each face, and indicated their confidence in each decision. Confidence significantly predicted accuracy across all participants, but this relation was stronger for participants with typical development than participants with ASD. In the hierarchical linear modeling analysis, there were no differences in face processing accuracy between participants with and without ASD, but participants with ASD were more confident in their decisions. These results suggest that individuals with ASD have metacognitive impairments and are overconfident in face processing. Additionally, greater metacognitive awareness was predictive of better face processing accuracy, suggesting that metacognition may be a pivotal skill to teach in interventions. PMID:26496991

  14. Factors affecting hazardous waste solidification/stabilization: a review.

    PubMed

    Malviya, Rachana; Chaudhary, Rubina

    2006-09-01

    Solidification/stabilization is accepted as a well-established disposal technique for hazardous waste. As a result many different types of hazardous wastes are treated with different binders. The S/S products have different property from waste and binders individually. The effectiveness of S/S process is studied by physical, chemical and microstructural methods. This paper summarizes the effect of different waste stream such as heavy metals bearing sludge, filter cake, fly ash, and slag on the properties of cement and other binders. The factors affecting strength development is studied using mix designs, including metal bearing waste alters the hydration and setting time of binders. Pore structure depends on relative quantity of the constituents, cement hydration products and their reaction products with admixtures. Carbonation and additives can lead to strength improvement in waste-binder matrix.

  15. Impact of climate change on occupational exposure to solar radiation.

    PubMed

    Grandi, Carlo; Borra, Massimo; Militello, Andrea; Polichetti, Alessandro

    2016-01-01

    Occupational exposure to solar radiation may induce both acute and long-term effects on skin and eyes. Personal exposure is very difficult to assess accurately, as it depends on environmental, organisational and individual factors. The ongoing climate change interacting with stratospheric ozone dynamics may affect occupational exposure to solar radiation. In addition, tropospheric levels of environmental pollutants interacting with solar radiation may be altered by climate dynamics, so introducing another variable affecting the overall exposure to solar radiation. Given the uncertainties regarding the direction of changes in exposure to solar radiation due to climate change, compliance of outdoor workers with protective measures and a proper health surveillance are crucial. At the same time, education and training, along with the promotion of healthier lifestyles, are of paramount importance.

  16. Retinal pigment epithelium changes in Kartagener syndrome.

    PubMed

    Garcia, Maria D; Ventura, Camila V; Dias, João R; Chang, Ta Chen P; Berrocal, Audina M

    2018-06-01

    We present the first case in the literature of a patient with Kartagener syndrome and ocular findings of nonexudative age-related macular degeneration. A 55-year-old woman with Kartagener syndrome and chronic angle closure glaucoma presented for evaluation of the retina. Optos ultra-widefield imaging of the fundus showed glaucomatous cupping, drusen, and retinal pigment epithelium changes within the macular region. Humphrey visual field testing confirmed glaucomatous changes. Drusenoid pigment epithelial detachments were observed bilaterally with optical coherence tomography. We hypothesize that in addition to the lungs, spermatozoa and the Fallopian tubes, the retinal pigment epithelium may also be affected by ciliary dysfunction in individuals with Kartagener syndrome. Given recent advances in our knowledge of retinal ciliopathies, further studies are needed to understand how ciliary dysfunction affects the retina in Kartagener syndrome.

  17. Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

    PubMed

    García-Nonell, Catalina; Ratera, Eugenia Rigau; Harris, Susan; Hessl, David; Ono, Michele Y; Tartaglia, Nicole; Marvin, Emily; Tassone, Flora; Hagerman, Randi J

    2008-08-01

    This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. Ninety males (3-25 years) with FXS or FXS + ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS + ASD (38.6%) and FXS alone (18.2%, P < 0.05). Medical problems that affect the CNS are more likely to occur in those with FXS + ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS. Copyright 2008 Wiley-Liss, Inc.

  18. Allergen-Specific Cytokine Polarization Protects Shetland Ponies against Culicoides obsoletus-Induced Insect Bite Hypersensitivity

    PubMed Central

    Meulenbroeks, Chantal; van der Lugt, Jaco J.; van der Meide, Nathalie M. A.; Willemse, Ton; Rutten, Victor P. M. G.; Zaiss, Dietmar M. W.

    2015-01-01

    The immunological mechanisms explaining development of an allergy in some individuals and not in others remain incompletely understood. Insect bite hypersensitivity (IBH) is a common, seasonal, IgE-mediated, pruritic skin disorder that affects considerable proportions of horses of different breeds, which is caused by bites of the insect Culicoides obsoletus (C. obsoletus). We investigated the allergen-specific immune status of individual horses that had either been diagnosed to be healthy or to suffer of IBH. Following intradermal allergen injection, skin biopsies were taken of IBH-affected and healthy ponies and cytokine expression was determined by RT-PCR. In addition, allergen-specific antibody titers were measured and cytokine expression of in vitro stimulated, allergen-specific CD4 T-cells was determined. 24 hrs after allergen injection, a significant increase in mRNA expression of the type-2 cytokine IL-4 was observed in the skin of IBH-affected Shetland ponies. In the skin of healthy ponies, however, an increase in IFNγ mRNA expression was found. Analysis of allergen-specific antibody titers revealed that all animals produced allergen-specific antibodies, and allergen-specific stimulation of CD4 T-cells revealed a significant higher percentage of IFNγ-expressing CD4 T-cells in healthy ponies compared to IBH-affected ponies. These data indicate that horses not affected by IBH, in contrast to the so far established dogma, are not immunologically ignorant but have a Th1-skewed allergen-specific immune response that appears to protect against IBH-associated symptoms. To our knowledge this is the first demonstration of a natural situation, in which an allergen-specific immune skewing is protective in an allergic disorder. PMID:25901733

  19. Data breach locations, types, and associated characteristics among US hospitals.

    PubMed

    Gabriel, Meghan Hufstader; Noblin, Alice; Rutherford, Ashley; Walden, Amanda; Cortelyou-Ward, Kendall

    2018-02-01

    The objectives of this study were to describe the locations in hospitals where data are breached, the types of breaches that occur most often at hospitals, and hospital characteristics, including health information technology (IT) sophistication and biometric security capabilities, that may be predicting factors of large data breaches that affect 500 or more patients. The Office of Civil Rights breach data from healthcare providers regarding breaches that affected 500 or more individuals from 2009 to 2016 were linked with hospital characteristics from the Health Information Management Systems Society and the American Hospital Association Health IT Supplement databases. Descriptive statistics were used to characterize hospitals with and without breaches, data breach type, and location/mode of data breaches in hospitals. Multivariate logistic regression analysis explored hospital characteristics that were predicting factors of a data breach affecting at least 500 patients, including area characteristics, region, health system membership, size, type, biometric security use, health IT sophistication, and ownership. Of all types of healthcare providers, hospitals accounted for approximately one-third of all data breaches and hospital breaches affected the largest number of individuals. Paper and films were the most frequent location of breached data, occurring in 65 hospitals during the study period, whereas network servers were the least common location but their breaches affected the most patients overall. Adjusted multivariate results showed significant associations among data breach occurrences and some hospital characteristics, including type and size, but not others, including health IT sophistication or biometric use for security. Hospitals should conduct routine audits to allow them to see their vulnerabilities before a breach occurs. Additionally, information security systems should be implemented concurrently with health information technologies. Improving access control and prioritizing patient privacy will be important steps in minimizing future breaches.

  20. Individual differences in cognition, affect, and performance: Behavioral, neuroimaging, and molecular genetic approaches

    PubMed Central

    Parasuraman, Raja; Jiang, Yang

    2012-01-01

    We describe the use of behavioral, neuroimaging, and genetic methods to examine individual differences in cognition and affect, guided by three criteria: (1) relevance to human performance in work and everyday settings; (2) interactions between working memory, decision-making, and affective processing; and (3) examination of individual differences. The results of behavioral, functional MRI (fMRI), event-related potential (ERP), and molecular genetic studies show that analyses at the group level often mask important findings associated with sub-groups of individuals. Dopaminergic/noradrenergic genes influencing prefrontal cortex activity contribute to inter-individual variation in working memory and decision behavior, including performance in complex simulations of military decision-making. The interactive influences of individual differences in anxiety, sensation seeking, and boredom susceptibility on evaluative decision-making can be systematically described using ERP and fMRI methods. We conclude that a multi-modal neuroergonomic approach to examining brain function (using both neuroimaging and molecular genetics) can be usefully applied to understanding individual differences in cognition and affect and has implications for human performance at work. PMID:21569853

  1. Negative Affect during a Collective (but Not an Individual) Task Is Associated with Holistic Attention in East Asian Cultural Context

    PubMed Central

    Tominaga, Hitoshi; Uchida, Yukiko; Miyamoto, Yuri; Yamasaki, Teruo

    2017-01-01

    Previous studies have suggested that individuals from East Asian cultures are more likely to show holistic attention—a pattern of attention that incorporates contextual information into focal stimuli—than individuals from North American cultures. Holistic attention is also prevalent in communities that require close cooperation. However, it is not yet known how cooperation is related to holistic attention. We theorized that holistic attention increases when people experience negative affect (e.g., worry, sadness, and frustration) during collective tasks (but not during individual tasks) because negative affect in social contexts signals the existence of potential threats to social harmony, thus indicating a need to restore social harmony. To examine this hypothesis, an experiment was conducted in which participants performed a musical duet either with another participant (a collective task requiring cooperation), or individually with a computer (an individual task). After the musical task, the Framed Line Task (FLT) was administered to examine their holistic attention. Participants also reported their emotional states both before and after the music task. Results suggested that negative affect in the collective task—but not the individual task—was positively correlated with a holistic pattern of attention. The function of negative affect in social contexts as motivation to restore relationships and how this enhances holistic attention is discussed. The moderating effect of social context on the link between negative affect and cognition is also discussed. PMID:28824483

  2. Negative Affect during a Collective (but Not an Individual) Task Is Associated with Holistic Attention in East Asian Cultural Context.

    PubMed

    Tominaga, Hitoshi; Uchida, Yukiko; Miyamoto, Yuri; Yamasaki, Teruo

    2017-01-01

    Previous studies have suggested that individuals from East Asian cultures are more likely to show holistic attention-a pattern of attention that incorporates contextual information into focal stimuli-than individuals from North American cultures. Holistic attention is also prevalent in communities that require close cooperation. However, it is not yet known how cooperation is related to holistic attention. We theorized that holistic attention increases when people experience negative affect (e.g., worry, sadness, and frustration) during collective tasks (but not during individual tasks) because negative affect in social contexts signals the existence of potential threats to social harmony, thus indicating a need to restore social harmony. To examine this hypothesis, an experiment was conducted in which participants performed a musical duet either with another participant (a collective task requiring cooperation), or individually with a computer (an individual task). After the musical task, the Framed Line Task (FLT) was administered to examine their holistic attention. Participants also reported their emotional states both before and after the music task. Results suggested that negative affect in the collective task-but not the individual task-was positively correlated with a holistic pattern of attention. The function of negative affect in social contexts as motivation to restore relationships and how this enhances holistic attention is discussed. The moderating effect of social context on the link between negative affect and cognition is also discussed.

  3. Predicting the synergy of multiple stress effects

    NASA Astrophysics Data System (ADS)

    Liess, Matthias; Foit, Kaarina; Knillmann, Saskia; Schäfer, Ralf B.; Liess, Hans-Dieter

    2016-09-01

    Toxicants and other, non-chemical environmental stressors contribute to the global biodiversity crisis. Examples include the loss of bees and the reduction of aquatic biodiversity. Although non-compliance with regulations might be contributing, the widespread existence of these impacts suggests that for example the current approach of pesticide risk assessment fails to protect biodiversity when multiple stressors concurrently affect organisms. To quantify such multiple stress effects, we analysed all applicable aquatic studies and found that the presence of environmental stressors increases individual sensitivity to toxicants (pesticides, trace metals) by a factor of up to 100. To predict this dependence, we developed the “Stress Addition Model” (SAM). With the SAM, we assume that each individual has a general stress capacity towards all types of specific stress that should not be exhausted. Experimental stress levels are transferred into general stress levels of the SAM using the stress-related mortality as a common link. These general stress levels of independent stressors are additive, with the sum determining the total stress exerted on a population. With this approach, we provide a tool that quantitatively predicts the highly synergistic direct effects of independent stressor combinations.

  4. A historical review of additives and modifiers used in paving asphalt refining processes in the United States.

    PubMed

    Mundt, Diane J; Adams, Robert C; Marano, Kristin M

    2009-11-01

    The U.S. asphalt paving industry has evolved over time to meet various performance specifications for liquid petroleum asphalt binder (known as bitumen outside the United States). Additives to liquid petroleum asphalt produced in the refinery may affect exposures to workers in the hot mix paving industry. This investigation documented the changes in the composition and distribution of the liquid petroleum asphalt products produced from petroleum refining in the United States since World War II. This assessment was accomplished by reviewing documents and interviewing individual experts in the industry to identify current and historical practices. Individuals from 18 facilities were surveyed; the number of facilities reporting use of any material within a particular class ranged from none to more than half the respondents. Materials such as products of the process stream, polymers, elastomers, and anti-strip compounds have been added to liquid petroleum asphalt in the United States over the past 50 years, but modification has not been generally consistent by geography or time. Modifications made to liquid petroleum asphalt were made generally to improve performance and were dictated by state specifications.

  5. Choline, Its Potential Role in Nonalcoholic Fatty Liver Disease, and the Case for Human and Bacterial Genes12

    PubMed Central

    Sherriff, Jill L; O’Sullivan, Therese A; Properzi, Catherine; Oddo, Josephine-Lee; Adams, Leon A

    2016-01-01

    Our understanding of the impact of poor hepatic choline/phosphatidylcholine availability in promoting the steatosis characteristic of human nonalcoholic fatty liver disease (NAFLD) has recently advanced and possibly relates to phosphatidylcholine/phosphatidylethanolamine concentrations in various, membranes as well as cholesterol dysregulation. A role for choline/phosphatidylcholine availability in the progression of NAFLD to liver injury and serious hepatic consequences in some individuals requires further elucidation. There are many reasons for poor choline/phosphatidylcholine availability in the liver, including low intake, estrogen status, and genetic polymorphisms affecting, in particular, the pathway for hepatic de novo phosphatidylcholine synthesis. In addition to free choline, phosphatidylcholine has been identified as a substrate for trimethylamine production by certain intestinal bacteria, thereby reducing host choline bioavailability and providing an additional link to the increased risk of cardiovascular disease faced by those with NAFLD. Thus human choline requirements are highly individualized and biomarkers of choline status derived from metabolomics studies are required to predict those at risk of NAFLD induced by choline deficiency and to provide a basis for human intervention trials. PMID:26773011

  6. Choline, Its Potential Role in Nonalcoholic Fatty Liver Disease, and the Case for Human and Bacterial Genes.

    PubMed

    Sherriff, Jill L; O'Sullivan, Therese A; Properzi, Catherine; Oddo, Josephine-Lee; Adams, Leon A

    2016-01-01

    Our understanding of the impact of poor hepatic choline/phosphatidylcholine availability in promoting the steatosis characteristic of human nonalcoholic fatty liver disease (NAFLD) has recently advanced and possibly relates to phosphatidylcholine/phosphatidylethanolamine concentrations in various, membranes as well as cholesterol dysregulation. A role for choline/phosphatidylcholine availability in the progression of NAFLD to liver injury and serious hepatic consequences in some individuals requires further elucidation. There are many reasons for poor choline/phosphatidylcholine availability in the liver, including low intake, estrogen status, and genetic polymorphisms affecting, in particular, the pathway for hepatic de novo phosphatidylcholine synthesis. In addition to free choline, phosphatidylcholine has been identified as a substrate for trimethylamine production by certain intestinal bacteria, thereby reducing host choline bioavailability and providing an additional link to the increased risk of cardiovascular disease faced by those with NAFLD. Thus human choline requirements are highly individualized and biomarkers of choline status derived from metabolomics studies are required to predict those at risk of NAFLD induced by choline deficiency and to provide a basis for human intervention trials. © 2016 American Society for Nutrition.

  7. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

    PubMed Central

    Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad; Gottsch, Clare Brooks S.; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

    2016-01-01

    Purpose To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. Methods Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples were collected from all participating members, and genomic DNA was extracted. An exclusion analysis with microsatellite markers spanning the TULP1 locus on chromosome 6p was performed, and two-point logarithm of odds (LOD) scores were calculated. All coding exons along with the exon–intron boundaries of TULP1 were sequenced bidirectionally. We constructed a single nucleotide polymorphism (SNP) haplotype for the four familial cases harboring the K489R allele and estimated the likelihood of a founder effect. Results The ophthalmic examinations of the affected individuals in these familial cases were suggestive of RP. Exclusion analyses confirmed linkage to chromosome 6p harboring TULP1 with positive two-point LOD scores. Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A>G (p.K489R), in four families. Additionally, we identified a two-base deletion in exon 4, c.286_287delGA (p.E96Gfs77*); a homozygous splice site variant in intron 14, c.1495+4A>C; and a novel missense variation in exon 15, c.1561C>T (p.P521S). All mutations segregated with the disease phenotype in the respective families and were absent in ethnically matched control chromosomes. Haplotype analysis suggested (p<10−6) that affected individuals inherited the causal mutation from a common ancestor. Conclusions Pathogenic mutations in TULP1 are responsible for the RP phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families. PMID:27440997

  8. Attention to eye contact in the West and East: autonomic responses and evaluative ratings.

    PubMed

    Akechi, Hironori; Senju, Atsushi; Uibo, Helen; Kikuchi, Yukiko; Hasegawa, Toshikazu; Hietanen, Jari K

    2013-01-01

    Eye contact has a fundamental role in human social interaction. The special appearance of the human eye (i.e., white sclera contrasted with a coloured iris) implies the importance of detecting another person's face through eye contact. Empirical studies have demonstrated that faces making eye contact are detected quickly and processed preferentially (i.e., the eye contact effect). Such sensitivity to eye contact seems to be innate and universal among humans; however, several studies suggest that cultural norms affect eye contact behaviours. For example, Japanese individuals exhibit less eye contact than do individuals from Western European or North American cultures. However, how culture modulates eye contact behaviour is unclear. The present study investigated cultural differences in autonomic correlates of attentional orienting (i.e., heart rate) and looking time. Additionally, we examined evaluative ratings of eye contact with another real person, displaying an emotionally neutral expression, between participants from Western European (Finnish) and East Asian (Japanese) cultures. Our results showed that eye contact elicited stronger heart rate deceleration responses (i.e., attentional orienting), shorter looking times, and higher ratings of subjective feelings of arousal as compared to averted gaze in both cultures. Instead, cultural differences in the eye contact effect were observed in various evaluative responses regarding the stimulus faces (e.g., facial emotion, approachability etc.). The rating results suggest that individuals from an East Asian culture perceive another's face as being angrier, unapproachable, and unpleasant when making eye contact as compared to individuals from a Western European culture. The rating results also revealed that gaze direction (direct vs. averted) could influence perceptions about another person's facial affect and disposition. These results suggest that cultural differences in eye contact behaviour emerge from differential display rules and cultural norms, as opposed to culture affecting eye contact behaviour directly at the physiological level.

  9. Cues of Fatigue: Effects of Sleep Deprivation on Facial Appearance

    PubMed Central

    Sundelin, Tina; Lekander, Mats; Kecklund, Göran; Van Someren, Eus J. W.; Olsson, Andreas; Axelsson, John

    2013-01-01

    Study Objective: To investigate the facial cues by which one recognizes that someone is sleep deprived versus not sleep deprived. Design: Experimental laboratory study. Setting: Karolinska Institutet, Stockholm, Sweden. Participants: Forty observers (20 women, mean age 25 ± 5 y) rated 20 facial photographs with respect to fatigue, 10 facial cues, and sadness. The stimulus material consisted of 10 individuals (five women) photographed at 14:30 after normal sleep and after 31 h of sleep deprivation following a night with 5 h of sleep. Measurements: Ratings of fatigue, fatigue-related cues, and sadness in facial photographs. Results: The faces of sleep deprived individuals were perceived as having more hanging eyelids, redder eyes, more swollen eyes, darker circles under the eyes, paler skin, more wrinkles/fine lines, and more droopy corners of the mouth (effects ranging from b = +3 ± 1 to b = +15 ± 1 mm on 100-mm visual analog scales, P < 0.01). The ratings of fatigue were related to glazed eyes and to all the cues affected by sleep deprivation (P < 0.01). Ratings of rash/eczema or tense lips were not significantly affected by sleep deprivation, nor associated with judgements of fatigue. In addition, sleep-deprived individuals looked sadder than after normal sleep, and sadness was related to looking fatigued (P < 0.01). Conclusions: The results show that sleep deprivation affects features relating to the eyes, mouth, and skin, and that these features function as cues of sleep loss to other people. Because these facial regions are important in the communication between humans, facial cues of sleep deprivation and fatigue may carry social consequences for the sleep deprived individual in everyday life. Citation: Sundelin T; Lekander M; Kecklund G; Van Someren EJW; Olsson A; Axelsson J. Cues of fatigue: effects of sleep deprivation on facial appearance. SLEEP 2013;36(9):1355-1360. PMID:23997369

  10. Attention to Eye Contact in the West and East: Autonomic Responses and Evaluative Ratings

    PubMed Central

    Akechi, Hironori; Senju, Atsushi; Uibo, Helen; Kikuchi, Yukiko; Hasegawa, Toshikazu; Hietanen, Jari K.

    2013-01-01

    Eye contact has a fundamental role in human social interaction. The special appearance of the human eye (i.e., white sclera contrasted with a coloured iris) implies the importance of detecting another person's face through eye contact. Empirical studies have demonstrated that faces making eye contact are detected quickly and processed preferentially (i.e., the eye contact effect). Such sensitivity to eye contact seems to be innate and universal among humans; however, several studies suggest that cultural norms affect eye contact behaviours. For example, Japanese individuals exhibit less eye contact than do individuals from Western European or North American cultures. However, how culture modulates eye contact behaviour is unclear. The present study investigated cultural differences in autonomic correlates of attentional orienting (i.e., heart rate) and looking time. Additionally, we examined evaluative ratings of eye contact with another real person, displaying an emotionally neutral expression, between participants from Western European (Finnish) and East Asian (Japanese) cultures. Our results showed that eye contact elicited stronger heart rate deceleration responses (i.e., attentional orienting), shorter looking times, and higher ratings of subjective feelings of arousal as compared to averted gaze in both cultures. Instead, cultural differences in the eye contact effect were observed in various evaluative responses regarding the stimulus faces (e.g., facial emotion, approachability etc.). The rating results suggest that individuals from an East Asian culture perceive another's face as being angrier, unapproachable, and unpleasant when making eye contact as compared to individuals from a Western European culture. The rating results also revealed that gaze direction (direct vs. averted) could influence perceptions about another person's facial affect and disposition. These results suggest that cultural differences in eye contact behaviour emerge from differential display rules and cultural norms, as opposed to culture affecting eye contact behaviour directly at the physiological level. PMID:23516627

  11. Overlapping contributions of Msh1p and putative recombination proteins Cce1p, Din7p, and Mhr1p in large-scale recombination and genome sorting events in the mitochondrial genome of Saccharomyces cerevisiae.

    PubMed

    Mookerjee, Shona A; Sia, Elaine A

    2006-03-20

    The mechanisms that govern mutation avoidance in the mitochondrial genome, though believed to be numerous, are poorly understood. The identification of individual genes has implicated mismatch repair and several recombination pathways in maintaining the fidelity and structural stability of mitochondrial DNA. However, the majority of genes in these pathways have not been identified and the interactions between different pathways have not been extensively studied. Additionally, the multicopy presence of the mitochondrial genome affects the occurrence and persistence of mutant phenotypes, making mitochondrial DNA transmission and sorting important factors affecting mutation accumulation. We present new evidence that the putative recombination genes CCE1, DIN7, and MHR1 have overlapping function with the mismatch repair homolog MSH1 in point mutation avoidance and suppression of aberrant recombination events. In addition, we demonstrate a novel role for Msh1p in mtDNA transmission, a role not predicted by studies of its nuclear homologs.

  12. Proceedings of the Working Group Session on Fertility Preservation for Individuals with Gender and Sex Diversity.

    PubMed

    Finlayson, Courtney; Johnson, Emilie K; Chen, Diane; Dabrowski, Elizabeth; Gosiengfiao, Yasmin; Campo-Engelstein, Lisa; Rosoklija, Ilina; Jacobson, Jill; Shnorhavorian, Margarett; Pavone, Mary Ellen; Moravek, Molly B; Bonifacio, Herbert J; Simons, Lisa; Hudson, Janella; Fechner, Patricia Y; Gomez-Lobo, Veronica; Kadakia, Rachel; Shurba, Angela; Rowell, Erin; Woodruff, Teresa K

    2016-01-01

    Children and adolescents with gender and sex diversity include (1) gender-nonconforming and transgender individuals for whom gender identity or expression are incongruent with birth-assigned sex (heretofore, transgender) and (2) individuals who have differences in sex development (DSD). Although these are largely disparate groups, there is overlap in the medical expertise necessary to care for individuals with both gender and sex diversity. In addition, both groups face potential infertility or sterility as a result of desired medical and surgical therapies. The Ann & Robert H. Lurie Children's Hospital of Chicago (Lurie Children's) gender and sex development program (GSDP) provides specialized multidisciplinary care for both transgender and DSD patients. In response to patient concerns that recommended medical treatments have the potential to affect fertility, the Lurie Children's GSDP team partnered with experts from the Oncofertility Consortium at Northwestern University to expand fertility preservation options to gender and sex diverse youth. This article summarizes the results of a meeting of experts across this field at the annual Oncofertility Consortium conference with thoughts on next steps toward a unified protocol for this patient group.

  13. Mental Imagery and Visual Working Memory

    PubMed Central

    Keogh, Rebecca; Pearson, Joel

    2011-01-01

    Visual working memory provides an essential link between past and future events. Despite recent efforts, capacity limits, their genesis and the underlying neural structures of visual working memory remain unclear. Here we show that performance in visual working memory - but not iconic visual memory - can be predicted by the strength of mental imagery as assessed with binocular rivalry in a given individual. In addition, for individuals with strong imagery, modulating the background luminance diminished performance on visual working memory and imagery tasks, but not working memory for number strings. This suggests that luminance signals were disrupting sensory-based imagery mechanisms and not a general working memory system. Individuals with poor imagery still performed above chance in the visual working memory task, but their performance was not affected by the background luminance, suggesting a dichotomy in strategies for visual working memory: individuals with strong mental imagery rely on sensory-based imagery to support mnemonic performance, while those with poor imagery rely on different strategies. These findings could help reconcile current controversy regarding the mechanism and location of visual mnemonic storage. PMID:22195024

  14. Mental imagery and visual working memory.

    PubMed

    Keogh, Rebecca; Pearson, Joel

    2011-01-01

    Visual working memory provides an essential link between past and future events. Despite recent efforts, capacity limits, their genesis and the underlying neural structures of visual working memory remain unclear. Here we show that performance in visual working memory--but not iconic visual memory--can be predicted by the strength of mental imagery as assessed with binocular rivalry in a given individual. In addition, for individuals with strong imagery, modulating the background luminance diminished performance on visual working memory and imagery tasks, but not working memory for number strings. This suggests that luminance signals were disrupting sensory-based imagery mechanisms and not a general working memory system. Individuals with poor imagery still performed above chance in the visual working memory task, but their performance was not affected by the background luminance, suggesting a dichotomy in strategies for visual working memory: individuals with strong mental imagery rely on sensory-based imagery to support mnemonic performance, while those with poor imagery rely on different strategies. These findings could help reconcile current controversy regarding the mechanism and location of visual mnemonic storage.

  15. Holistic approach to prevention and management of type 2 diabetes mellitus in a family setting.

    PubMed

    Ofori, Sandra N; Unachukwu, Chioma N

    2014-01-01

    Diabetes mellitus (DM) is a chronic, progressive metabolic disorder with several complications that affect virtually all the systems in the human body. Type 2 DM (T2DM) is a major risk factor for cardiovascular disease (CVD). The management of T2DM is multifactorial, taking into account other major modifiable risk factors, like obesity, physical inactivity, smoking, blood pressure, and dyslipidemia. A multidisciplinary team is essential to maximize the care of individuals with DM. DM self-management education and patient-centered care are the cornerstones of management in addition to effective lifestyle strategies and pharmacotherapy with individualization of glycemic goals. Robust evidence supports the effectiveness of this approach when implemented. Individuals with DM and their family members usually share a common lifestyle that, not only predisposes the non-DM members to developing DM but also, increases their collective risk for CVD. In treating DM, involvement of the entire family, not only improves the care of the DM individual but also, helps to prevent the risk of developing DM in the family members.

  16. FRAXE mutation analysis in three Spanish families

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Carbonell, P.; Lopez, I.; Gabarron, J.

    Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotype/cytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or presenting different expansions at the CGG FRAXE triplet. In addition, we analyze the FRAXE mutation in sperm DNA from a retarded male carrier with a handicapped daughter expressing fragility at the FRAXE locus. Mental status in FRAXE individuals is highly variable and, although mild mental retardation is observed in most cases, several carrier males are apparently normal. It seemsmore » that methylation is not as strictly associated with size of CGG triplets in the FRAXE locus as in FRAXA, and it is possible that normal carrier individuals with fully methylated increments in lymphocytes have a certain proportion of unmethylated alleles in the critical (i.e., neural) tissues. FRAXE mutation is apparently similar to FRAXA in that males with somatic large methylated increments are carriers of small unmethylated ones in germinal cells. 12 refs., 2 figs., 1 tab.« less

  17. Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.

    PubMed

    Mao, Liming; Kitani, Atsushi; Similuk, Morgan; Oler, Andrew J; Albenberg, Lindsey; Kelsen, Judith; Aktay, Atiye; Quezado, Martha; Yao, Michael; Montgomery-Recht, Kim; Fuss, Ivan J; Strober, Warren

    2018-05-01

    In these studies, we evaluated the contribution of the NLRP3 inflammasome to Crohn's disease (CD) in a kindred containing individuals having a missense mutation in CARD8, a protein known to inhibit this inflammasome. Whole exome sequencing and PCR studies identified the affected individuals as having a V44I mutation in a single allele of the T60 isoform of CARD8. The serum levels of IL-1β in the affected individuals were increased compared with those in healthy controls, and their peripheral monocytes produced increased amounts of IL-1β when stimulated by NLRP3 activators. Immunoblot studies probing the basis of these findings showed that mutated T60 CARD8 failed to downregulate the NLRP3 inflammasome because it did not bind to NLRP3 and inhibit its oligomerization. In addition, these studies showed that mutated T60 CARD8 exerted a dominant-negative effect by its capacity to bind to and form oligomers with unmutated T60 or T48 CARD8 that impeded their binding to NLRP3. Finally, inflammasome activation studies revealed that intact but not mutated CARD8 prevented NLRP3 deubiquitination and serine dephosphorylation. CD due to a CARD8 mutation was not effectively treated by anti-TNF-α, but did respond to IL-1β inhibitors. Thus, patients with anti-TNF-α-resistant CD may respond to this treatment option.

  18. Cortical and Sensory Causes of Individual Differences in Selective Attention Ability Among Listeners With Normal Hearing Thresholds

    PubMed Central

    2017-01-01

    Purpose This review provides clinicians with an overview of recent findings relevant to understanding why listeners with normal hearing thresholds (NHTs) sometimes suffer from communication difficulties in noisy settings. Method The results from neuroscience and psychoacoustics are reviewed. Results In noisy settings, listeners focus their attention by engaging cortical brain networks to suppress unimportant sounds; they then can analyze and understand an important sound, such as speech, amidst competing sounds. Differences in the efficacy of top-down control of attention can affect communication abilities. In addition, subclinical deficits in sensory fidelity can disrupt the ability to perceptually segregate sound sources, interfering with selective attention, even in listeners with NHTs. Studies of variability in control of attention and in sensory coding fidelity may help to isolate and identify some of the causes of communication disorders in individuals presenting at the clinic with “normal hearing.” Conclusions How well an individual with NHTs can understand speech amidst competing sounds depends not only on the sound being audible but also on the integrity of cortical control networks and the fidelity of the representation of suprathreshold sound. Understanding the root cause of difficulties experienced by listeners with NHTs ultimately can lead to new, targeted interventions that address specific deficits affecting communication in noise. Presentation Video http://cred.pubs.asha.org/article.aspx?articleid=2601617 PMID:29049598

  19. Drop-off detection with the long cane: effect of cane shaft weight and rigidity on performance

    PubMed Central

    Kim, Dae Shik; Emerson, Robert Wall; Naghshineh, Koorosh; Auer, Alexander

    2016-01-01

    Most travellers who are blind rely on a long cane to detect drop-offs on their walking paths. We examined how different cane shaft materials affect drop-off detection performance through providing different vibrotactile and proprioceptive feedbacks to the cane user. Results of the study showed a significant interaction between cane shaft weight and how the cane is used. A heavier cane was advantageous for detecting drop-offs when the individual used the ‘constant contact technique’ – cane tip stays in contact with the walking surface at all times – but not when he used the ‘two-point touch technique’ – cane tip is rhythmically tapped on the surface. In addition, a more flexible cane was advantageous for detecting drop-offs when the two-point touch technique was used but not when the constant contact technique was used. It is recommended that, when blind individuals select a cane shaft material, they consider which long cane technique they use more often. Practitioner Summary: Long cane shaft material affects how well a blind individual can detect drop-offs. A heavier shaft was advantageous when using the constant contact technique (cane tip stays in continuous contact with the surface), while a more flexible shaft was better when using the two-point touch technique (cane tip rhythmically taps the surface). PMID:27065052

  20. Geomys bursars burrowing patterns: influence of season and food patch structure

    USGS Publications Warehouse

    Andersen, Douglas C.

    1987-01-01

    The relationship between belowground food resources and the pattern and pace of soil excavation by Geomys bursarius, the plains pocket gopher, was assessed during spring and autumn using replicated 18 x 18 m enclosures containing uniform arrays of food plants (Daucus carota) at spacings assumed to result in burrowing being energetically profitable (25 and 50 cm) or unprofitable (100 cm and empty). Soil excavation rate, measured in terms of either daily additions to tunnel length or volume, or the maximum volume excavated during a 3-d interval, varied greatly among individuals. No significant effect due to season or density of belowground plant biomass was detected when burrowing was profitable. Individuals readily initiated aboveground travel in unprofitable treatments. Soil bulk density was negatively related and animal body mass positively related to excavation rate. Individuals deposited from 41 to 87% of excavated soil on the ground surface; the remainder was used to backfill previously created tunnels or chambers. Plant size, but not plant spacing, affected the ratio of the volumes deposited aboveground and belowground. There was no evidence that animals in enclosures disturbed soil in a manner quantitatively or qualitatively different from free-ranging adults. The large proportions and absolute quantities (up to 30 L/d) of soil involved suggest that backfilling may affect ecosystem structure and functioning as much as surface mound-building.

  1. Wherever I may roam: social viscosity and kin affiliation in a wild population despite natal dispersal

    PubMed Central

    Hinde, Camilla A.; Garroway, Colin J.; Sheldon, Ben C.

    2016-01-01

    Dispersal affects the social contexts individuals experience by redistributing individuals in space, and the nature of social interactions can have important fitness consequences. During the vagrancy stage of natal dispersal, after an individual has left its natal site and before it has settled to breed, social affiliations might be predicted by opportunities to associate (e.g., distance in space and time between natal points of origin) or kin preferences. We investigated the social structure of a population of juvenile great tits (Parus major) and asked whether social affiliations during vagrancy were predicted by 1) the distance between natal nest-boxes, 2) synchrony in fledge dates, and 3) accounting for spatial and temporal predictors, whether siblings tended to stay together. We show that association strength was affected predominantly by spatial proximity at fledging and, to a lesser extent, temporal proximity in birth dates. Independently of spatial and temporal effects, sibling pairs associated more often than expected by chance. Our results suggest that the structure of the winter population is shaped primarily by limits to dispersal through incomplete population mixing. In addition, our results reveal kin structure, and hence the scope for fitness-related interactions between particular classes of kin. Both spatial-mediated and socially mediated population structuring can have implications for our understanding of the evolution of sociality. PMID:27418755

  2. Effects of imperfect automation and individual differences on concurrent performance of military and robotics tasks in a simulated multitasking environment.

    PubMed

    Chen, J Y C; Terrence, P I

    2009-08-01

    This study investigated the performance and workload of the combined position of gunner and robotics operator in a simulated military multitasking environment. Specifically, the study investigated how aided target recognition (AiTR) capabilities for the gunnery task with imperfect reliability (false-alarm-prone vs. miss-prone) might affect the concurrent robotics and communication tasks. Additionally, the study examined whether performance was affected by individual differences in spatial ability and attentional control. Results showed that when the robotics task was simply monitoring the video, participants had the best performance in their gunnery and communication tasks and the lowest perceived workload, compared with the other robotics tasking conditions. There was a strong interaction between the type of AiTR unreliability and participants' perceived attentional control. Overall, for participants with higher perceived attentional control, false-alarm-prone alerts were more detrimental; for low attentional control participants, conversely, miss-prone automation was more harmful. Low spatial ability participants preferred visual cueing and high spatial ability participants favoured tactile cueing. Potential applications of the findings include personnel selection for robotics operation, robotics user interface designs and training development. The present results will provide further understanding of the interplays among automation reliability, multitasking performance and individual differences in military tasking environments. These results will also facilitate the implementation of robots in military settings and will provide useful data to military system designs.

  3. Hereditary diffuse gastric cancer: implications of genetic testing for screening and prophylactic surgery.

    PubMed

    Cisco, Robin M; Ford, James M; Norton, Jeffrey A

    2008-10-01

    Approximately 10% of patients with gastric cancer show familial clustering, and 3% show autosomal dominance and high penetrance. Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominant, inherited cancer syndrome in which affected individuals develop diffuse-type gastric cancer at a young age. Inactivating mutations in the E-cadherin gene CDH1 have been identified in 30% to 50% of patients. CDH1 mutation carriers have an approximately 70% lifetime risk of developing DGC, and affected women carry an additional 20% to 40% risk of developing lobular breast cancer. Because endoscopic surveillance is ineffective in identifying early HDGC, gene-directed prophylactic total gastrectomy currently is offered for CDH1 mutation carriers. In series of asymptomatic individuals undergoing total gastrectomy for CDH1 mutations, the removed stomachs usually contain small foci of early DGC, making surgery not prophylactic but curative. The authors of this review recommend consideration of total gastrectomy in CDH1 mutation carriers at an age 5 years younger than the youngest family member who developed gastric cancer. Individuals who choose not to undergo prophylactic gastrectomy should be followed with biannual chromoendoscopy, and women with CDH1 mutations also should undergo regular surveillance with magnetic resonance imaging studies of the breast. Because of the emergence of gene-directed gastrectomy for HDGC, today, a previously lethal disease is detected by molecular techniques, allowing curative surgery at an early stage.

  4. Does Visual Impairment Affect Social Ties in Late Life? Findings of a Multicenter Prospective Cohort Study in Germany.

    PubMed

    Hajek, A; Brettschneider, C; Lühmann, D; Eisele, M; Mamone, S; Wiese, B; Weyerer, S; Werle, J; Pentzek, M; Fuchs, A; Stein, J; Luck, T; Bickel, H; Weeg, D; Heser, K; Jessen, F; Maier, W; Scherer, M; Riedel-Heller, S G; König, H-H

    2017-01-01

    To investigate how visual impairment affects social ties in late life longitudinally. Population-based prospective cohort study. Individuals in old age were recruited via general practitioners' offices (at six study centers) in Germany. They were interviewed every 18 months. Individuals aged 75 years and above at baseline. Follow-up wave 2 (36 months after baseline, n=2,443) and wave 4 (72 months after baseline, n=1,618) were used for the analyses presented here. Social ties were assessed using the 14-item form of the questionnaire for social support (F-SozU K-14). Visual impairment was self-rated on a three level Likert scale (no impairment, mild visual impairment, or severe/profound visual impairment). Adjusting for sociodemographic factors, hearing impairment and comorbidity, fixed effects regressions revealed that the onset of mild visual impairment decreased the social support score, in particular the emotional support score. Additionally, the onset of mild hearing impairment decreased the social support score in men. Moreover, increasing age decreased the social support score in the total sample and in both sexes. Loss of spouse and increasing comorbidity did not affect the social support score. Our results highlight the importance of visual impairment for social ties in late life. Consequently, appropriate strategies in order to delay visual impairment might help to maintain social ties in old age.

  5. Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

    PubMed Central

    Villanueva, Pia; Newbury, Dianne F; Jara, Lilian; De Barbieri, Zulema; Mirza, Ghazala; Palomino, Hernán M; Fernández, María Angélica; Cazier, Jean-Baptiste; Monaco, Anthony P; Palomino, Hernán

    2011-01-01

    Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the aetiology of this disorder is only emerging. In this paper, we apply genome-wide techniques to investigate an isolated Chilean population who exhibit an increased frequency of SLI. Loss of heterozygosity (LOH) mapping and parametric and non-parametric linkage analyses indicate that complex genetic factors are likely to underlie susceptibility to SLI in this population. Across all analyses performed, the most consistently implicated locus was on chromosome 7q. This locus achieved highly significant linkage under all three non-parametric models (max NPL=6.73, P=4.0 × 10−11). In addition, it yielded a HLOD of 1.24 in the recessive parametric linkage analyses and contained a segment that was homozygous in two affected individuals. Further, investigation of this region identified a two-SNP haplotype that occurs at an increased frequency in language-impaired individuals (P=0.008). We hypothesise that the linkage regions identified here, in particular that on chromosome 7, may contain variants that underlie the high prevalence of SLI observed in this isolated population and may be of relevance to other populations affected by language impairments. PMID:21248734

  6. Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

    PubMed

    Wang, Jie; Wan, Ke; Sun, Jiayu; Li, Weihao; Liu, Hong; Han, Yuchi; Chen, Yucheng

    2018-01-17

    Limited data is available on phenotypic variations with the same genotype in hypertrophic cardiomyopathy (HCM). The present study aims to explore the relationship between genotype and phenotype characterized by cardiovascular magnetic resonance (CMR) in a large Chinese family. A proband diagnosed with HCM from a multigenerational family underwent next-generation sequencing based on a custom sureSelect panel, including 117 candidate pathogenic genes associated with cardiomyopathies. All genetic results were confirmed by the Sanger sequencing method. All confirmed mutation carriers underwent CMR exam and myocardial tissue characterization using T1 mapping and late gadolinium enhancement (LGE) on a 3T scanner (Siemens Trio, Gemany). After clinical and genetic screening of 36 (including the proband) members of a large Chinese family, nineteen family members are determined to carry the single p.T1377M (c.4130C>T) mutation in the MYH7 gene. Of these 19 mutation carriers, eight are diagnosed with HCM, one was considered as borderline affected and ten are not clinically or phenotypically affected. Different HCM phenotypes are present in the nine affected individuals in this family. In addition, we have found different tissue characteristics assessed by T1 mapping and LGE in these individuals. We describe a family that demonstrates the diverse HCM phenotypes associated with a single MYH7 mutation.

  7. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.

    PubMed

    O'Connell, Amy E; Zhou, Fanny; Shah, Manasvi S; Murphy, Quinn; Rickner, Hannah; Kelsen, Judith; Boyle, John; Doyle, Jefferson J; Gangwani, Bharti; Thiagarajah, Jay R; Kamin, Daniel S; Goldsmith, Jeffrey D; Richmond, Camilla; Breault, David T; Agrawal, Pankaj B

    2018-06-04

    Homozygous nonsense mutations in WNT2B were identified in three individuals from two unrelated families with severe, neonatal-onset osmotic diarrhea after whole-exome sequencing was performed on trios from the two families. Intestinal biopsy samples from affected individuals were used for histology and immunofluorescence and to generate enteroids ex vivo. Histopathologic evaluation demonstrated chronic inflammatory changes in the stomach, duodenum, and colon. Immunofluorescence demonstrated diminished staining for OLFM4, a marker for intestinal stem cells (ISCs). The enteroids generated from WNT2B-deficient intestinal epithelium could not be expanded and did not survive passage. Addition of CHIR-99021 (a GSK3A and GSK3B inhibitor and activator of canonical WNT/β-CATENIN signaling) could not rescue WNT2B-deficient enteroids. Addition of supplemental recombinant murine WNT2B was able to perpetuate small enteroids for multiple passages but failed to expand their number. Enteroids showed a 10-fold increase in the expression of LEF1 mRNA and a 100-fold reduction in TLR4 expression, compared with controls by quantitative RT-PCR, indicating alterations in canonical WNT and microbial pattern-recognition signaling. In summary, individuals with homozygous nonsense mutations in WNT2B demonstrate severe intestinal dysregulation associated with decreased ISC number and function, likely explaining their diarrheal phenotype. WNT2B deficiency should be considered for individuals with neonatal-onset diarrhea. Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. [Construction of a structural model about male and female adolescents' alienation, depression, and suicidal thoughts].

    PubMed

    Lee, Eunsook

    2007-06-01

    This study was designed to construct a structural model explaining alienation, depression, and suicidal thoughts in male and female adolescents. Data was collected by questionnairs from 204 male and 208 female students selected randomly in high schools in K city. This study found that depression was significantly affected by alienation, and was indirectly affected through alienation by school attachment, peer relationships, and academic performance. Suicidal thoughts were greatly affected by depression, and were directly and indirectly influenced by alienation. It was confirmed that alienation turned out to be a important mediating variable, while it had a effect significant on depression and suicidal thoughts. Also there were significant differences in affecting factors among male and female students. Intervention strategies for preventing alienation, depression and suicidal thoughts should be different according to gender. In addition, specific nursing intervention plans, including parent education and role training programs, fostering of humanistic and achievement-focused educational environment, peer support programs, and individual counselling, need to be developed and implemented to lessen a feeling of alienation from family and school.

  9. The Negative Affect Hypothesis of Noise Sensitivity

    PubMed Central

    Shepherd, Daniel; Heinonen-Guzejev, Marja; Heikkilä, Kauko; Dirks, Kim N.; Hautus, Michael J.; Welch, David; McBride, David

    2015-01-01

    Some studies indicate that noise sensitivity is explained by negative affect, a dispositional tendency to negatively evaluate situations and the self. Individuals high in such traits may report a greater sensitivity to other sensory stimuli, such as smell, bright light and pain. However, research investigating the relationship between noise sensitivity and sensitivity to stimuli associated with other sensory modalities has not always supported the notion of a common underlying trait, such as negative affect, driving them. Additionally, other explanations of noise sensitivity based on cognitive processes have existed in the clinical literature for over 50 years. Here, we report on secondary analyses of pre-existing laboratory (n = 74) and epidemiological (n = 1005) data focusing on the relationship between noise sensitivity to and annoyance with a variety of olfactory-related stimuli. In the first study a correlational design examined the relationships between noise sensitivity, noise annoyance, and perceptual ratings of 16 odors. The second study sought differences between mean noise and air pollution annoyance scores across noise sensitivity categories. Results from both analyses failed to support the notion that, by itself, negative affectivity explains sensitivity to noise. PMID:25993104

  10. Personomics: The Missing Link in the Evolution from Precision Medicine to Personalized Medicine.

    PubMed

    Ziegelstein, Roy C

    2017-10-16

    Clinical practice guidelines have been developed for many common conditions based on data from randomized controlled trials. When medicine is informed solely by clinical practice guidelines, however, the patient is not treated as an individual, but rather a member of a group. Precision medicine, as defined herein, characterizes unique biological characteristics of the individual or of specimens obtained from an individual to tailor diagnostics and therapeutics to a specific patient. These unique biological characteristics are defined by the tools of precision medicine: genomics, proteomics, metabolomics, epigenomics, pharmacogenomics, and other "-omics." Personalized medicine, as defined herein, uses additional information about the individual derived from knowing the patient as a person. These unique personal characteristics are defined by tools known as personomics which takes into account an individual's personality, preferences, values, goals, health beliefs, social support network, financial resources, and unique life circumstances that affect how and when a given health condition will manifest in that person and how that condition will respond to treatment. In this paradigm, precision medicine may be considered a necessary step in the evolution of medical care to personalized medicine, with personomics as the missing link.

  11. Kindler syndrome in a Saudi kindred.

    PubMed

    Al Aboud, K; Al Hawsawi, K; Al Aboud, D; Al Githami, A

    2002-11-01

    We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.

  12. PubMed

    Sarman, Ihsan; Rangmar, Jenny

    2017-08-03

    Fetal alcohol syndrome is not the only consequence of prenatal alcohol exposure  The prevalence of fetal alcohol syndrome and fetal alcohol spectrum disorders in larger communities in USA is now updated to 0.4 % and 4.8 % respectively. Affected individuals bear witness to disease symptoms from many organ systems in addition to the brain and behavioural dysfunctions. In the light of modern epigenetic research, early alcohol exposure appears to play a hidden role in fetal reprogramming. The underlying mechanisms explain the »developmental origin of health and disease«, which has an impact on complex interactions between genome, environment and epigenetics.

  13. A screening method for biotinidase deficiency in newborns.

    PubMed

    Heard, G S; Secor McVoy, J R; Wolf, B

    1984-01-01

    We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored. To confirm the deficiency, the enzyme is quantitatively assayed in additional blood spots or serum. A pilot study has been initiated with samples obtained by the Commonwealth of Virginia for phenylketonuria testing.

  14. Epilepsy: A Spectrum Disorder

    PubMed Central

    Sirven, Joseph I.

    2015-01-01

    Epilepsy, a disorder of unprovoked seizures is a multifaceted disease affecting individuals of all ages with a particular predilection for the very young and old. In addition to seizures, many patients often report cognitive and psychiatric problems associated with both the seizures themselves and its therapy. Epilepsy has numerous etiologies both idiopathic and acquired with a wide range of therapeutic responses. Despite numerous treatments available to control repetitive seizures including medications, diets, immunotherapy, surgery, and neuromodulatory devices, a large percentage of patients continue to suffer the consequences of uncontrolled seizures, which include psychosocial stigma and death. PMID:26328931

  15. Reptile hematology.

    PubMed

    Sykes, John M; Klaphake, Eric

    2015-01-01

    The basic principles of hematology used in mammalian medicine can be applied to reptiles. The appearances of the blood cells are significantly different from those seen in most mammals, and vary with taxa and staining method used. Many causes for abnormalities of the reptilian hemogram are similar to those for mammals, although additional factors such as venipuncture site, season, hibernation status, captivity status, and environmental factors can also affect values, making interpretation of hematologic results challenging. Values in an individual should be compared with reference ranges specific to that species, gender, and environmental conditions when available.

  16. Gender differences in response to a school-based mindfulness training intervention for early adolescents.

    PubMed

    Kang, Yoona; Rahrig, Hadley; Eichel, Kristina; Niles, Halsey F; Rocha, Tomas; Lepp, Nathaniel E; Gold, Jonathan; Britton, Willoughby B

    2018-06-01

    Mindfulness training has been used to improve emotional wellbeing in early adolescents. However, little is known about treatment outcome moderators, or individual differences that may differentially impact responses to treatment. The current study focused on gender as a potential moderator for affective outcomes in response to school-based mindfulness training. Sixth grade students (N = 100) were randomly assigned to either the six weeks of mindfulness meditation or the active control group as part of a history class curriculum. Participants in the mindfulness meditation group completed short mindfulness meditation sessions four to five times per week, in addition to didactic instruction (Asian history). The control group received matched experiential activity in addition to didactic instruction (African history) from the same teacher with no meditation component. Self-reported measures of emotional wellbeing/affect, mindfulness, and self-compassion were obtained at pre and post intervention. Meditators reported greater improvement in emotional wellbeing compared to those in the control group. Importantly, gender differences were detected, such that female meditators reported greater increases in positive affect compared to females in the control group, whereas male meditators and control males displayed equivalent gains. Uniquely among females but not males, increases in self-reported self-compassion were associated with improvements in affect. These findings support the efficacy of school-based mindfulness interventions, and interventions tailored to accommodate distinct developmental needs of female and male adolescents. Copyright © 2018 Society for the Study of School Psychology. Published by Elsevier Ltd. All rights reserved.

  17. The acoustic adaptation hypothesis in a widely distributed South American frog: Southernmost signals propagate better.

    PubMed

    Velásquez, Nelson A; Moreno-Gómez, Felipe N; Brunetti, Enzo; Penna, Mario

    2018-05-03

    Animal communication occurs in environments that affect the properties of signals as they propagate from senders to receivers. We studied the geographic variation of the advertisement calls of male Pleurodema thaul individuals from eight localities in Chile. Furthermore, by means of signal propagation experiments, we tested the hypothesis that local calls are better transmitted and less degraded than foreign calls (i.e. acoustic adaptation hypothesis). Overall, the advertisement calls varied greatly along the distribution of P. thaul in Chile, and it was possible to discriminate localities grouped into northern, central and southern stocks. Propagation distance affected signal amplitude and spectral degradation in all localities, but temporal degradation was only affected by propagation distance in one out of seven localities. Call origin affected signal amplitude in five out of seven localities and affected spectral and temporal degradation in six out of seven localities. In addition, in northern localities, local calls degraded more than foreign calls, and in southern localities the opposite was observed. The lack of a strict optimal relationship between signal characteristics and environment indicates partial concordance with the acoustic adaptation hypothesis. Inter-population differences in selectivity for call patterns may compensate for such environmental constraints on acoustic communication.

  18. Relationships between meaning in life, social and achievement events, and positive and negative affect in daily life.

    PubMed

    Machell, Kyla A; Kashdan, Todd B; Short, Jerome L; Nezlek, John B

    2015-06-01

    Research on meaning in life has generally focused on global meaning judgments. This study examined how people's daily experiences, represented by events that occur in daily life, influence their perceived sense of meaning on a daily basis. One hundred sixty-two college students completed daily reports for 2 weeks. We examined the relationships among daily social and achievement events, daily positive and negative affect, and daily meaning in life. In addition, we tested the possible moderating influence of depressive symptoms on these relationships. Positive daily social and achievement events were related to greater daily meaning, above and beyond the contributions of daily positive and negative affect. Negative social and achievement events were related to less daily meaning, and negative achievement events covaried with daily meaning above and beyond positive and negative affect. Depression moderated the relationships between positive events and meaning, such that people who reported more depressive symptoms had greater increases in daily meaning in response to positive social and achievement events than individuals who reported fewer symptoms. These findings suggest the important role that daily events may play in fluctuations in people's affective experiences and sense of meaning in life. © 2014 Wiley Periodicals, Inc.

  19. An example of problems in dose reconstruction from doses formed by electromagnetic irradiation by different energy sources.

    PubMed

    Kirillov, Vladimir; Kuchuro, Joseph; Tolstik, Sergey; Leonova, Tatyana

    2010-02-01

    Dose reconstruction for citizens of Belarus affected by the Chernobyl accident showed an unexpectedly wide range of doses. Using the EPR tooth enamel dosimetry method, it has been demonstrated that when the tooth enamel dose was formed due to x-rays with effective energy of 34 keV and the additional irradiation of enamel samples was performed by gamma radiation with mean energy of 1,250 keV, it led to a considerable increase in the reconstructed absorbed dose as compared with the applied. In the case when the dose was formed due to gamma radiation and the additional irradiation was performed by x-rays, it led to a considerable decrease in the reconstructed dose as compared with the applied. When the dose formation and the additional irradiation were carried out from external sources of electromagnetic radiation of equal energy, the reconstructed dose value was close to that of the applied. The obtained data show that for adequate reconstruction of individual absorbed doses by the EPR tooth enamel spectra, it is necessary to take into account the contribution from diagnostic x-ray examination of the teeth, jaw, and skull of some individuals who were exposed to a combined effect of the external gamma radiation and x-rays.

  20. The consequences of alternating diet on performance and food preferences of a specialist leaf beetle.

    PubMed

    Tremmel, Martin; Müller, Caroline

    2013-08-01

    The food quality of a given host plant tissue will influence the performance and may also affect the preference behavior of herbivorous animals. As nutrient contents and defense metabolite concentrations can vary significantly between different parts of a plant and change over time, herbivores are potentially confronted with diet differing in quality even when feeding on a single plant individual. Here we investigated to what extent feeding exclusively either on young or old, mature leaves of Brassica rapa or on a mixed diet of young and old leaves offered in alternating order affects the larval performance, food consumption, and the host preference behavior of adult mustard leaf beetles, Phaedon cochleariae. Analyzing different leaf quality traits, we found lower water contents, no changes in C:N ratio but more than threefold higher glucosinolate concentrations in young compared to old leaves. Individuals reared on mixed diet performed as well as animals reared on young leaves. Thus, compared to animals feeding exclusively on highly nutritious young leaves, diet-mixing individuals may balance the lower nutrient intake by a dilution of adverse secondary metabolites. Alternatively, they may integrate over the variation in their food, using a previously assimilated resource for growth at times of scarcity. Animals reared on old leaves grew less and had a prolonged larval developmental time, although they showed increased consumption indicating compensatory feeding. Additionally, we found that experience with a certain diet affected the preference behavior. Whereas individuals reared exclusively on young leaves preferred young over old leaves for feeding and oviposition, we did not find any preferences by animals reared exclusively on old leaves or by females reared on alternating diet. Thus, in contrast to positive feedbacks for animals reared on young leaves, an integrative growth of diet-mixing individuals potentially leads to a lack of feedback during development. Taken together, our results suggest that different diet regimes can lead to comparable performance of mustard leaf beetles but experienced feedbacks may differ and thus convey distinct diet preferences. Copyright © 2013 Elsevier Ltd. All rights reserved.

  1. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

    PubMed

    McInerney-Leo, Aideen M; Schmidts, Miriam; Cortés, Claudio R; Leo, Paul J; Gener, Blanca; Courtney, Andrew D; Gardiner, Brooke; Harris, Jessica A; Lu, Yeping; Marshall, Mhairi; Scambler, Peter J; Beales, Philip L; Brown, Matthew A; Zankl, Andreas; Mitchison, Hannah M; Duncan, Emma L; Wicking, Carol

    2013-09-05

    Short-rib polydactyly syndromes (SRPS I-V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an overlapping but generally milder phenotype. Collectively, these short-rib dysplasias (with or without polydactyly) share a common underlying defect in primary cilium function and form a subset of the ciliopathy disease spectrum. By using whole-exome capture and massive parallel sequencing of DNA from an affected Australian individual with SRPS type III, we detected two novel heterozygous mutations in WDR60, a relatively uncharacterized gene. These mutations segregated appropriately in the unaffected parents and another affected family member, confirming compound heterozygosity, and both were predicted to have a damaging effect on the protein. Analysis of an additional 54 skeletal ciliopathy exomes identified compound heterozygous mutations in WDR60 in a Spanish individual with Jeune syndrome of relatively mild presentation. Of note, these two families share one novel WDR60 missense mutation, although haplotype analysis suggested no shared ancestry. We further show that WDR60 localizes at the base of the primary cilium in wild-type human chondrocytes, and analysis of fibroblasts from affected individuals revealed a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme. These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Helicopter transport: help or hindrance?

    PubMed

    Plevin, Rebecca E; Evans, Heather L

    2011-12-01

    Traumatic injury continues to be a significant cause of morbidity and mortality in the year 2011. In addition, the healthcare expenditures and lost years of productivity represent significant economic cost to the affected individuals and their communities. Helicopters have been used to transport trauma patients for the past 40 years, but there are conflicting data on the benefits of helicopter emergency medical service (HEMS) in civilian trauma systems. Debate persists regarding the mortality benefit, cost-effectiveness, and safety of helicopter usage, largely because the studies to date vary widely in design and generalizability to trauma systems serving heterogeneous populations and geography. Strict criteria should be established to determine when HEMS transport is warranted and most likely to positively affect patient outcomes. Individual trauma systems should conduct an assessment of their resources and needs in order to most effectively incorporate helicopter transport into their triage model. Research suggests that HEMS improves mortality in certain subgroups of trauma patients, both after transport from the scene of injury and following interfacility transport. Studies examining the cost-effectiveness of HEMS had mixed results, but the majority found that it is a cost-effective tool. Safety remains an issue of contention with HEMS transport, as helicopters are associated with significant safety risk to the crew and patient. However, this risk may be justified provided there is a substantial mortality benefit to be gained. Recent studies suggest that strict criteria should be established to determine when helicopter transport is warranted and most likely to positively affect patient outcomes. Individual trauma systems should conduct an assessment of their resources and needs in order to most effectively incorporate HEMS into their triage model. This will enable regional hospitals to determine if the costs and safety risks associated with HEMS are worthwhile given the potential benefits to patient morbidity and mortality.

  3. Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

    PubMed

    Sang, Qing; Li, Bin; Kuang, Yanping; Wang, Xueqian; Zhang, Zhihua; Chen, Biaobang; Wu, Ling; Lyu, Qifeng; Fu, Yonglun; Yan, Zheng; Mao, Xiaoyan; Xu, Yao; Mu, Jian; Li, Qiaoli; Jin, Li; He, Lin; Wang, Lei

    2018-04-05

    Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when deleted in vivo. In clinical practice, some infertility case subjects suffer from recurrent failure of in vitro fertilization and intracytoplasmic sperm injection attempts due to fertilization failure, but the genetic basis of fertilization failure in humans remains largely unknown. Wee2 is a key oocyte-specific kinase involved in the control of meiotic arrest in mice, but WEE2 has not been associated with any diseases in humans. In this study, we identified homozygous mutations in WEE2 that are responsible for fertilization failure in humans. All four independent affected individuals had homozygous loss-of-function missense mutations or homozygous frameshift protein-truncating mutations, and the phenotype of fertilization failure was shown to follow a Mendelian recessive inheritance pattern. All four mutations significantly decreased the amount of WEE2 protein in vitro and in affected individuals' oocytes in vivo, and they all led to abnormal serine phosphorylation of WEE2 and reduced tyrosine 15 phosphorylation of Cdc2 in vitro. In addition, injection of WEE2 cRNA into affected individuals' oocytes rescued the fertilization failure phenotype and led to the formation of blastocysts in vitro. This work presents a novel gene responsible for human fertilization failure and has implications for future therapeutic treatments for infertility cases. Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  4. Productivity Loss Related to Neglected Tropical Diseases Eligible for Preventive Chemotherapy: A Systematic Literature Review

    PubMed Central

    Rijnsburger, Adriana J.; Severens, Johan L.

    2016-01-01

    Background Neglected Tropical Diseases (NTDs) not only cause health and life expectancy loss, but can also lead to economic consequences including reduced ability to work. This article describes a systematic literature review of the effect on the economic productivity of individuals affected by one of the five worldwide most prevalent NTDs: lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminths (ascariasis, trichuriasis, and hookworm infection) and trachoma. These diseases are eligible to preventive chemotherapy (PCT). Methodology/Principal Findings Eleven bibliographic databases were searched using different names of all NTDs and various keywords relating to productivity. Additional references were identified through reference lists from relevant papers. Of the 5316 unique publications found in the database searches, thirteen papers were identified for lymphatic filariasis, ten for onchocerciasis, eleven for schistosomiasis, six for soil-transmitted helminths and three for trachoma. Besides the scarcity in publications reporting the degree of productivity loss, this review revealed large variation in the estimated productivity loss related to these NTDs. Conclusions It is clear that productivity is affected by NTDs, although the actual impact depends on the type and severity of the NTD as well as on the context where the disease occurs. The largest impact on productivity loss of individuals affected by one of these diseases seems to be due to blindness from onchocerciasis and severe schistosomiasis manifestations; productivity loss due to trachoma-related blindness has never been studied directly. However, productivity loss at an individual level might differ from productivity loss at a population level because of differences in the prevalence of NTDs. Variation in estimated productivity loss between and within diseases is caused by differences in research methods and setting. Publications should provide enough information to enable readers to assess the quality and relevance of the study for their purposes. PMID:26890487

  5. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

    PubMed

    Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent

    2014-03-01

    MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity.

  6. The German Version of the Strengths Use Scale: The Relation of Using Individual Strengths and Well-being.

    PubMed

    Huber, Alexandra; Webb, Dave; Höfer, Stefan

    2017-01-01

    Theoretical perspectives in positive psychology have considered the possession and use of strengths equally but in applied research more studies focused on having them, probably due to the absence of psychometrically adequate scales. Therefore, the aim of this study was to assess the psychometric characteristics of the German language version of the Strengths Use Scale (SUS) and to explore relationships between strengths use and several indicator measures of well-being: the presence of positive and the absence of negative affect, self-esteem as identity aspect, vitality as self-regulatory resource, and stress for capturing the evaluation of difficulties and obstacles impinging on well-being. The original English version of the SUS was translated following recommended independent forward-backward translation techniques. Exploratory and confirmatory factor analyses were conducted, including a German-speaking convenience sample of university students ( N = 374). Additionally, the relations of strengths use and well-being indicators were analyzed. Factorial validity revealed a single-factor structure of the German version of the SUS, explaining 58.4% variance (factor loadings: 0.58 to 0.86), approving the scale's design and showing high internal consistency (Cronbach's α 0.95). The hypothesized positive relationships of strengths use with positive affect, self-esteem, and vitality were confirmed as well as the negative relationships with negative affect and stress. The German version of the SUS is psychometrically sound and data indicate that individual strengths use and well-being related measures interact. The instrument can be recommended for future research questions such as if and how the promotion of applying individual strengths during education enhances levels of well-being, or how the implementation of strengths use in job-design guidelines or working conditions can result in higher levels of well-being or healthiness.

  7. AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

    PubMed Central

    Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent

    2014-01-01

    MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy–Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity. PMID:23756445

  8. The German Version of the Strengths Use Scale: The Relation of Using Individual Strengths and Well-being

    PubMed Central

    Huber, Alexandra; Webb, Dave; Höfer, Stefan

    2017-01-01

    Theoretical perspectives in positive psychology have considered the possession and use of strengths equally but in applied research more studies focused on having them, probably due to the absence of psychometrically adequate scales. Therefore, the aim of this study was to assess the psychometric characteristics of the German language version of the Strengths Use Scale (SUS) and to explore relationships between strengths use and several indicator measures of well-being: the presence of positive and the absence of negative affect, self-esteem as identity aspect, vitality as self-regulatory resource, and stress for capturing the evaluation of difficulties and obstacles impinging on well-being. The original English version of the SUS was translated following recommended independent forward-backward translation techniques. Exploratory and confirmatory factor analyses were conducted, including a German-speaking convenience sample of university students (N = 374). Additionally, the relations of strengths use and well-being indicators were analyzed. Factorial validity revealed a single-factor structure of the German version of the SUS, explaining 58.4% variance (factor loadings: 0.58 to 0.86), approving the scale’s design and showing high internal consistency (Cronbach’s α 0.95). The hypothesized positive relationships of strengths use with positive affect, self-esteem, and vitality were confirmed as well as the negative relationships with negative affect and stress. The German version of the SUS is psychometrically sound and data indicate that individual strengths use and well-being related measures interact. The instrument can be recommended for future research questions such as if and how the promotion of applying individual strengths during education enhances levels of well-being, or how the implementation of strengths use in job-design guidelines or working conditions can result in higher levels of well-being or healthiness. PMID:28496424

  9. Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

    PubMed

    Chiang, J M; Chen, H W; Tang, R P; Chen, J S; Changchien, C R; Hsieh, P S; Wang, J Y

    2010-06-01

    Familial adenomatous polyposis (FAP) is an autosomal-dominant disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. The affected individuals develop colorectal polyposis and show various extra-colonic manifestations. In this study, we aimed to investigate the genetic and clinical characteristics of FAP in Taiwanese families and analyze the genotype-phenotype correlations. Blood samples were obtained from 66 FAP patients registered in the hereditary colorectal cancer database. Then, germline mutations in the APC genes of these 66 polyposis patients from 47 unrelated FAP families were analyzed. The germline-mutation-negative cases were analyzed by performing multiplex ligation-dependent probe amplification (MLPA) and single-strand conformation polymorphism (SSCP) analysis of the MUTYH gene. Among the analyzed families, 79% (37/47) of the families showed 28 APC mutations, including 19 frameshift mutations, 4 nonsense mutations, 3 genomic deletion mutations, 1 missense mutation, and 1 splice-site mutation. In addition, we identified 15 novel mutations in 32% (15/47) of the families. The cases in which APC mutations were not identified showed significantly lower incidence of profuse polyposis (P = 0.034) and gastroduodenal polyps (P = 0.027). Furthermore, FAP families in which some affected individuals had less than 100 polyps showed significant association with low incidence of APC germline mutations (P = 0.002). We have added the APC germline-mutation data for Taiwanese FAP patients and indicated the presence of an FAP subgroup comprising affected individuals with nonadenomatous polyps or less than 100 adenomatous polyps; this form of FAP is less frequently caused by germline mutations of the APC gene.

  10. Sadness might isolate you in a non-smelling world: olfactory perception and depression

    PubMed Central

    Schablitzky, Sylvia; Pause, Bettina M.

    2014-01-01

    Major depressive disorder (MDD) occurs with a high prevalence among mental illnesses. MDD patients experience sadness and hopelessness, with blunted affective reactivity. However, such depressive episodes are also key symptoms in other depressive disorders, like Bipolar Disorder (BPD) or Seasonal Affective Disorder (SAD). Moreover, depressive symptoms can also be found in healthy individuals, but are experienced as less severe or for a shorter duration than in patients. Here, it is aimed to summarize studies investigating odor perception in depression, including depressive states in healthy individuals and patient populations. Odor perception in depression has been assessed with psychophysical methods (olfactory sensitivity, odor identification, and discrimination), and odor ratings (intensity, emotional valence, familiarity). In addition, some studies investigated affective reactions to odors, and physiological and anatomical correlates of odor perception in depression. The summary reveals that MDD is associated with reduced olfactory sensitivity. However, odor identification and discrimination scores seem to be unaffected by depression. The reduced olfactory sensitivity might be associated with a reduced ability to encode olfactory information and a reduced volume of the olfactory bulb. While similar processes seem to occur in healthy individuals experiencing depressive states, they have not been observed in BPD or SAD patients. However, in order to conclude that the reduced olfactory sensitivity is directly linked to depression, it is suggested that studies should implement control measures of cognitive performances or perceptual abilities in other stimulus modalities. It is concluded that the reduced olfactory performance in MDD patients seems to be disorder-, modality-, and test-specific, and that the application of an appropriate olfactory and cognitive test-battery might be highly useful in the differential diagnosis of MDD. PMID:24570666

  11. Social Resource Correlates of Levels and Time-to-Death-Related Changes in Late-Life Affect

    PubMed Central

    Windsor, Tim D.; Gerstorf, Denis; Luszcz, Mary A.

    2016-01-01

    Little is known regarding how well psychosocial resources that promote well-being continue to correlate with affect into very late life. We examined social resource correlates of levels and time-to-death related changes in affect balance (an index of affective positivity) over 19 years among 1,297 by now deceased participants (aged 69 to 103 at first assessment, M = 80 years; 36% women) from the Australian Longitudinal Study of Aging. A steeper decline in affect balance was evident over a time-to-death metric compared with chronological age. Separating time-varying social resource predictors into between- and within-person components revealed several associations with level of affect balance, controlling for age at death, gender, functional disability and global cognition. Between-person associations revealed that individuals who were more satisfied with family, and more socially active, expressed greater positivity compared with those who were less satisfied, and less socially active. Within-person associations indicated that participants reported higher positivity on occasions when they were more socially active. In addition, lower affect balance was associated with more frequent contact with children. Our results suggest that social engagement and satisfying relationships confer benefits for affective well-being that are retained into late life. However our findings do not provide evidence to indicate that social resources protect against terminal decline in well-being. PMID:25621743

  12. Leadership, Knowledge Sharing, and Creativity: The Key Factors in Nurses' Innovative Behaviors.

    PubMed

    Kim, Sung-Jin; Park, Myonghwa

    2015-12-01

    This study identified the factors that affect the innovative behaviors of nurses at general hospitals based on their individual and organizational characteristics. The predictors of innovative nursing behaviors, such as self-leadership, individual knowledge sharing, creative self-efficacy, organizational knowledge sharing, and innovative organizational cultures, should be explored at individual and organizational level. This study administered a cross-sectional survey to 347 registered nurses working at 6 general hospitals (with >300 beds) in central South Korea. Data were collected using a self-report questionnaire and analyzed using structural equation modeling. Self-leadership, creative self-efficacy, and individual knowledge sharing directly affected individual innovative behaviors. Organizational knowledge sharing indirectly affected individual innovative behaviors, and this effect was mediated by an innovative organizational culture. This study contributes to the knowledge base regarding the effective management of individuals and organizations through innovative behavior; furthermore, it provides future directions for nursing interventions.

  13. An agent-based modelling framework to explore the role of social media and stubborn people on evacuation rates during flooding events

    NASA Astrophysics Data System (ADS)

    Du, E.; Cai, X.; Minsker, B. S.; Sun, Z.

    2017-12-01

    Flood warnings from various information sources are important for individuals to make evacuation decisions during a flood event. In this study, we develop a general opinion dynamics model to simulate how individuals update their flood hazard awareness when exposed to multiple information sources, including global broadcast, social media, and observations of neighbors' actions. The opinion dynamics model is coupled with a traffic model to simulate the evacuation processes of a residential community with a given transportation network. Through various scenarios, we investigate how social media affect the opinion dynamics and evacuation processes. We find that stronger social media can make evacuation processes more sensitive to the change of global broadcast and neighbor observations, and thus, impose larger uncertainty on evacuation rates (i.e., a large range of evacuation rates corresponding to sources of information). For instance, evacuation rates are lower when social media become more influential and individuals have less trust in global broadcast. Stubborn individuals can significantly affect the opinion dynamics and reduce evacuation rates. In addition, evacuation rates respond to the percentage of stubborn agents in a non-linear manner, i.e., above a threshold, the impact of stubborn agents will be intensified by stronger social media. These results highlight the role of social media in flood evacuation processes and the need to monitor social media so that misinformation can be corrected in a timely manner. The joint impacts of social media, quality of flood warnings and transportation capacity on evacuation rates are also discussed.

  14. Chromosomal bands affected by acute oil exposure and DNA repair errors.

    PubMed

    Monyarch, Gemma; de Castro Reis, Fernanda; Zock, Jan-Paul; Giraldo, Jesús; Pozo-Rodríguez, Francisco; Espinosa, Ana; Rodríguez-Trigo, Gema; Verea, Hector; Castaño-Vinyals, Gemma; Gómez, Federico P; Antó, Josep M; Coll, Maria Dolors; Barberà, Joan Albert; Fuster, Carme

    2013-01-01

    In a previous study, we showed that individuals who had participated in oil clean-up tasks after the wreckage of the Prestige presented an increase of structural chromosomal alterations two years after the acute exposure had occurred. Other studies have also reported the presence of DNA damage during acute oil exposure, but little is known about the long term persistence of chromosomal alterations, which can be considered as a marker of cancer risk. We analyzed whether the breakpoints involved in chromosomal damage can help to assess the risk of cancer as well as to investigate their possible association with DNA repair efficiency. Cytogenetic analyses were carried out on the same individuals of our previous study and DNA repair errors were assessed in cultures with aphidicolin. Three chromosomal bands, 2q21, 3q27 and 5q31, were most affected by acute oil exposure. The dysfunction in DNA repair mechanisms, expressed as chromosomal damage, was significantly higher in exposed-oil participants than in those not exposed (p= 0.016). The present study shows that breaks in 2q21, 3q27 and 5q31 chromosomal bands, which are commonly involved in hematological cancer, could be considered useful genotoxic oil biomarkers. Moreover, breakages in these bands could induce chromosomal instability, which can explain the increased risk of cancer (leukemia and lymphomas) reported in chronically benzene-exposed individuals. In addition, it has been determined that the individuals who participated in clean-up of the oil spill presented an alteration of their DNA repair mechanisms two years after exposure.

  15. Ineffective initiation contributes to deficient verbal and non-verbal fluency in patients with schizophrenia.

    PubMed

    Krukow, Paweł; Harciarek, Michał; Morylowska-Topolska, Justyna; Karakuła-Juchnowicz, Hanna; Jonak, Kamil

    2017-09-01

    Patients with schizophrenia (SCH) show impaired verbal and non-verbal fluency. However, these individuals' fluctuations in words or designs generation efficiency over time, a phenomenon that may significantly affect fluency, have never been studied. Thus, the aim of this research was to investigate if individuals with SCH may present with alternations in the dynamics of the information production and its control as well as to test if the potential abnormalities in this regard might affect these patients' overall performance on both verbal and non-verbal fluency tasks. Forty-four patients with SCH and 40 healthy controls (HC) completed both verbal (phonological, semantic) and non-verbal fluency tests. To analyse processing efficiency changes over time, the period in which subjects had to generate words or designs (60 s) has been divided into 15-s sections. In comparison to HCs, individuals with SCH obtained significantly lower total scores for all fluency measures. Furthermore, group differences in the dynamics of the test performance also emerged, with SCH patients having a significantly worse production during the initial 15 s of each fluency task. Additionally, the initial production deficiency seen in patients with SCH has accounted for these individuals' total performance. Moreover, comparisons of errors distribution over time during the phonemic and figural fluency performance also revealed differences, suggesting there was a rapid depletion in maintaining of cognitive control in the SCH sample. Inefficient fluency in SCH may arise from a more general initiation deficits that may partly account for these patients' cognitive problems.

  16. Sex differences in the drivers of reproductive skew in a cooperative breeder.

    PubMed

    Nelson-Flower, Martha J; Flower, Tom P; Ridley, Amanda R

    2018-04-16

    Many cooperatively breeding societies are characterized by high reproductive skew, such that some socially dominant individuals breed, while socially subordinate individuals provide help. Inbreeding avoidance serves as a source of reproductive skew in many high-skew societies, but few empirical studies have examined sources of skew operating alongside inbreeding avoidance or compared individual attempts to reproduce (reproductive competition) with individual reproductive success. Here, we use long-term genetic and observational data to examine factors affecting reproductive skew in the high-skew cooperatively breeding southern pied babbler (Turdoides bicolor). When subordinates can breed, skew remains high, suggesting factors additional to inbreeding avoidance drive skew. Subordinate females are more likely to compete to breed when older or when ecological constraints on dispersal are high, but heavy subordinate females are more likely to successfully breed. Subordinate males are more likely to compete when they are older, during high ecological constraints, or when they are related to the dominant male, but only the presence of within-group unrelated subordinate females predicts subordinate male breeding success. Reproductive skew is not driven by reproductive effort, but by forces such as intrinsic physical limitations and intrasexual conflict (for females) or female mate choice, male mate-guarding and potentially reproductive restraint (for males). Ecological conditions or "outside options" affect the occurrence of reproductive conflict, supporting predictions of recent synthetic skew models. Inbreeding avoidance together with competition for access to reproduction may generate high skew in animal societies, and disparate processes may be operating to maintain male vs. female reproductive skew in the same species. © 2018 John Wiley & Sons Ltd.

  17. The Brain’s Heart – Therapeutic Opportunities for Patent Foramen Ovale (PFO) and Neurovascular Disease

    PubMed Central

    Ning, MingMing; Lo, Eng H.; Ning, Pei-Chen; Xu, Su-Yu; McMullin, David; Demirjian, Zareh; Inglessis, Ignacio; Dec, G William; Palacios, Igor; Buonanno, Ferdinando S.

    2013-01-01

    Patent foramen ovale (PFO), a common congenital cardiac abnormality, is a connection between the right and left atria in the heart. As a “back door to the brain”, PFO can serve as a conduit for paradoxical embolism, allowing venous thrombi to enter the arterial circulation, avoiding filtration by the lungs, and causing ischemic stroke. PFO-related strokes affect more than 150,000 people per year in the US, and PFO is present in up to 60% of migraine patients with aura, and in one out of four normal individuals. So, in such a highly prevalent condition, what are the best treatment and prevention strategies? Emerging studies show PFO-related neurovascular disease to be a multi-organ condition with varying individual risk factors that may require individualized therapeutic approaches – opening the field for new pharmacologic and therapeutic targets. The anatomy of PFO suggests that, in addition to thrombi, it can also allow harmful circulatory factors to travel directly from the venous to the arterial circulation, a concept important in finding novel therapeutic targets for PFO-related neurovascular injury. Here, we: 1) review emerging data on PFO-related injuries and clinical trials; 2) discuss potential mechanisms of PFO-related neurovascular disease in the context of multi-organ interaction and heart-brain signaling; and 3) discuss novel therapeutic targets and research frontiers. Clinical studies and molecular mapping of the circulatory landscape of this multi-organ disease will both be necessary in order to better individualize clinical treatment for a condition affecting more than a quarter of the world’s population. PMID:23528225

  18. Projected near-future CO2 levels increase activity and alter defensive behaviours in the tropical squid Idiosepius pygmaeus

    PubMed Central

    Spady, Blake L.; Watson, Sue-Ann; Chase, Tory J.; Munday, Philip L.

    2014-01-01

    ABSTRACT Carbon dioxide (CO2) levels projected to occur in the oceans by the end of this century cause a range of behavioural effects in fish, but whether other highly active marine organisms, such as cephalopods, are similarly affected is unknown. We tested the effects of projected future CO2 levels (626 and 956 µatm) on the behaviour of male two-toned pygmy squid, Idiosepius pygmaeus. Exposure to elevated CO2 increased the number of active individuals by 19–25% and increased movement (number of line-crosses) by nearly 3 times compared to squid at present-day CO2. Squid vigilance and defensive behaviours were also altered by elevated CO2 with >80% of individuals choosing jet escape responses over defensive arm postures in response to a visual startle stimulus, compared with 50% choosing jet escape responses at control CO2. In addition, more escape responses were chosen over threat behaviours in body pattern displays at elevated CO2 and individuals were more than twice as likely to use ink as a defence strategy at 956 µatm CO2, compared with controls. Increased activity could lead to adverse effects on energy budgets as well as increasing visibility to predators. A tendency to respond to a stimulus with escape behaviours could increase survival, but may also be energetically costly and could potentially lead to more chases by predators compared with individuals that use defensive postures. These results demonstrate that projected future ocean acidification affects the behaviours of a tropical squid species. PMID:25326517

  19. Pain patients' experiences of validation and invalidation from physicians before and after multimodal pain rehabilitation: Associations with pain, negative affectivity, and treatment outcome.

    PubMed

    Edlund, Sara M; Wurm, Matilda; Holländare, Fredrik; Linton, Steven J; Fruzzetti, Alan E; Tillfors, Maria

    2017-10-01

    Validating and invalidating responses play an important role in communication with pain patients, for example regarding emotion regulation and adherence to treatment. However, it is unclear how patients' perceptions of validation and invalidation relate to patient characteristics and treatment outcome. The aim of this study was to investigate the occurrence of subgroups based on pain patients' perceptions of validation and invalidation from their physicians. The stability of these perceptions and differences between subgroups regarding pain, pain interference, negative affectivity and treatment outcome were also explored. A total of 108 pain patients answered questionnaires regarding perceived validation and invalidation, pain severity, pain interference, and negative affectivity before and after pain rehabilitation treatment. Two cluster analyses using perceived validation and invalidation were performed, one on pre-scores and one on post-scores. The stability of patient perceptions from pre- to post-treatment was investigated, and clusters were compared on pain severity, pain interference, and negative affectivity. Finally, the connection between perceived validation and invalidation and treatment outcome was explored. Three clusters emerged both before and after treatment: (1) low validation and heightened invalidation, (2) moderate validation and invalidation, and (3) high validation and low invalidation. Perceptions of validation and invalidation were generally stable over time, although there were individuals whose perceptions changed. When compared to the other two clusters, the low validation/heightened invalidation cluster displayed significantly higher levels of pain interference and negative affectivity post-treatment but not pre-treatment. The whole sample significantly improved on pain interference and depression, but treatment outcome was independent of cluster. Unexpectedly, differences between clusters on pain interference and negative affectivity were only found post-treatment. This appeared to be due to the pre- and post-heightened invalidation clusters not containing the same individuals. Therefore, additional analyses were conducted to investigate the individuals who changed clusters. Results showed that patients scoring high on negative affectivity ended up in the heightened invalidation cluster post-treatment. Taken together, most patients felt understood when communicating with their rehabilitation physician. However, a smaller group of patients experienced the opposite: low levels of validation and heightened levels of invalidation. This group stood out as more problematic, reporting greater pain interference and negative affectivity when compared to the other groups after treatment. Patient perceptions were typically stable over time, but some individuals changed cluster, and these movements seemed to be related to negative affectivity and pain interference. These results do not support a connection between perceived validation and invalidation from physicians (meeting the patients pre- and post-treatment) and treatment outcome. Overall, our results suggest that there is a connection between negative affectivity and pain interference in the patients, and perceived validation and invalidation from the physicians. In clinical practice, it is important to pay attention to comorbid psychological problems and level of pain interference, since these factors may negatively influence effective communication. A focus on decreasing invalidating responses and/or increasing validating responses might be particularly important for patients with high levels of psychological problems and pain interference. Copyright © 2017. Published by Elsevier B.V.

  20. X-linked dominant retinitis pigmentosa in an American family

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    McGuire, R.E.; Daiger, S.P.; Blanton, S.H.

    1994-09-01

    Retinitis pigmentosa is a genetically heterogeneous disease with autosomal dominant (adRP), autosomal recessive and X-linked forms. At least 3 forms of X-linked retinitis pigmentosa have been reported: RP2 which maps to Xp11.4-p 11.23, RP3 which maps to Xp21.1 and RP6, which maps to Xp21.3-p21.1. The X-linked forms of retinitis pigmentosa are generally considered to be recessive as female carriers are not affected or are much less affected than males. Here we report a five generation American family with X-linked retinitis pigmentosa in which both males and females are significantly affected. The disease locus in this family appears to be distinctmore » from RP2 and RP3. The American family (UTAD054) presents with early-onset retinitis pigmentosa. The family appeared to fit an autosomal dominant pattern; however, linkage testing excluded all known adRP loci. Absence of male-to-male transmission in the pedigree suggested the possibility of X-linked dominant inheritance. Thus we tested six microsatellite markers that map to Xp (DXS987, DXS989, DXS993, DXS999, DXS1003 and DXS1110). Of these, DXS989 showed tight linkage with one allele (199) showing a 100% concordance with disease status. The odds favoring an X-linked dominant mode of inheritance in this family, versus autosomal dominant, are 10{sup 5}:1. In addition, recombinations for DXS999, and dXS1110, the two markers flanking DXS989, were observed in affected individuals. These data map the disease locus in this family to a 9 mb region on the X chromosome between Xp22.11 and Xp21.41. In addition, the recombinant individuals exclude close linkage to RP2 and RP3. The observance of high penetrance in females indicates that this family has X-linked dominant retinitis pigmentosa. We suggest that this mode of inheritance should be considered in other families with dominant retinitis pigmentosa but an absence of male-to-male transmission.« less

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