Benjamin J. I. Schellenberg, Jérémie Verner-Filion, Allen Quach, D. Bailis
The suspension of the 2019-2020 National Basketball Association (NBA) season due to the COVID-19 pandemic meant that NBA fans were unable to engage in an activity that they loved in the midst of a global health crisis. In this research, we assessed if fan responses to the suspension were associated with different types of fan passion and motives. Shortly after the NBA season suspension, NBA fans (N = 395) completed online surveys assessing harmonious and obsessive passion for being an NBA fan, motives for watching games, and various attitudes and responses to the suspension. We found that both fan passion and motives predicted responses to the suspension, particularly obsessive passion which predicted greater levels of distress, coping responses, and negative attitudes toward the suspension. These findings have implications for both the passion and fan motives literatures.
{"title":"Basketball jones: Fan passion, motives, and reactions to the suspension of the National Basketball Association season due to COVID-19","authors":"Benjamin J. I. Schellenberg, Jérémie Verner-Filion, Allen Quach, D. Bailis","doi":"10.31234/osf.io/32msf","DOIUrl":"https://doi.org/10.31234/osf.io/32msf","url":null,"abstract":"The suspension of the 2019-2020 National Basketball Association (NBA) season due to the COVID-19 pandemic meant that NBA fans were unable to engage in an activity that they loved in the midst of a global health crisis. In this research, we assessed if fan responses to the suspension were associated with different types of fan passion and motives. Shortly after the NBA season suspension, NBA fans (N = 395) completed online surveys assessing harmonious and obsessive passion for being an NBA fan, motives for watching games, and various attitudes and responses to the suspension. We found that both fan passion and motives predicted responses to the suspension, particularly obsessive passion which predicted greater levels of distress, coping responses, and negative attitudes toward the suspension. These findings have implications for both the passion and fan motives literatures.","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":"54 1","pages":"101885"},"PeriodicalIF":0.0,"publicationDate":"2020-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45705143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Physical exercise is an effective tool for improving public health, but the general population exercises too little. Drawing on recent theorizing on the combined role of boredom and self-control in guiding goal-directed behavior, we test the hypothesis that individual differences in boredom and self-control differentiate high from low exercisers. The role of boredom as a non-adaptive disposition is of particular interest, because research on boredom in sports is scarce. Here, we investigate the role of such individual differences in self-reported weekly exercise behavior (in minutes) in a sample of N = 507 participants (n = 200 female, Mage = 36.43 (± 9.54)). We used the robust variant of Mahalanobis distance to detect and remove n = 51 multivariate outliers and then performed latent profile analysis to assess if boredom (boredom proneness; exercise-related boredom) and self-control (trait self-control; if-then planning) combine into identifiable latent profiles. In line with theoretical considerations, the Bayesian Information Criterion favored a solution with two latent profiles. One profile was characterized by higher-than-average exercise-related boredom and boredom proneness and lower-than-average self-control and if-then planning values. This pattern was reversed for the second profile. A one-sided Bayesian two-sample t-test supported the hypothesis that the first profile is associated with more exercise behavior than the second profile, BF =16.93. Our results foster the notion of self-control and if-then planning as adaptive dispositions. More importantly, they point to an important role of boredom in the exercise setting: exercise-related boredom and getting easily bored in general are associated with less exercise activity. This is in line with recent theorizing on boredoms’ and self-controls’ function in guiding goal-directed behavior.
{"title":"Too bored for sports? Adaptive and less-adaptive latent personality profiles for exercise behavior","authors":"W. Wolff, M. Bieleke, Johanna Stähler, J. Schüler","doi":"10.31236/osf.io/tjw89","DOIUrl":"https://doi.org/10.31236/osf.io/tjw89","url":null,"abstract":"Physical exercise is an effective tool for improving public health, but the general population exercises too little. Drawing on recent theorizing on the combined role of boredom and self-control in guiding goal-directed behavior, we test the hypothesis that individual differences in boredom and self-control differentiate high from low exercisers. The role of boredom as a non-adaptive disposition is of particular interest, because research on boredom in sports is scarce. Here, we investigate the role of such individual differences in self-reported weekly exercise behavior (in minutes) in a sample of N = 507 participants (n = 200 female, Mage = 36.43 (± 9.54)). We used the robust variant of Mahalanobis distance to detect and remove n = 51 multivariate outliers and then performed latent profile analysis to assess if boredom (boredom proneness; exercise-related boredom) and self-control (trait self-control; if-then planning) combine into identifiable latent profiles. In line with theoretical considerations, the Bayesian Information Criterion favored a solution with two latent profiles. One profile was characterized by higher-than-average exercise-related boredom and boredom proneness and lower-than-average self-control and if-then planning values. This pattern was reversed for the second profile. A one-sided Bayesian two-sample t-test supported the hypothesis that the first profile is associated with more exercise behavior than the second profile, BF =16.93. Our results foster the notion of self-control and if-then planning as adaptive dispositions. More importantly, they point to an important role of boredom in the exercise setting: exercise-related boredom and getting easily bored in general are associated with less exercise activity. This is in line with recent theorizing on boredoms’ and self-controls’ function in guiding goal-directed behavior.","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41496489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B. Cheval, Marcos Daou, D. A. Cabral, Mariane F. B. Bacelar, J. Parma, C. Forestier, Dan Orsholits, D. Sander, M. Boisgontier, Matthew W. Miller
Recent evidence suggests humans have an automatic attraction to effort minimization. Yet, how this attraction is associated with response inhibition is still unclear. Here, we used go/no-go tasks to capture inhibitory control in response to stimuli depicting physical activity versus physical inactivity in 59 healthy young individuals. Higher commission errors (i.e., failure to refrain a response to a “no-go” stimulus) were used as a measure for inhibitory control. Based on the energetic cost minimization theory, we hypothesized that participants would exhibit higher commission errors when responding to stimuli depicting physical inactivity stimuli rather than physical activity stimuli. As expected, mixed effects models showed that, compared to physical activity stimuli, participants exhibited higher commission errors when responding to stimuli depicting physical inactivity (odds ratio = 1.59, 95% Confidence Interval [95%CI] = 1.18 to 2.16, p = .003). These results suggest that physical inactivity stimuli might require high response inhibition. This study lends support for the hypothesis that an attraction to effort minimization might affect inhibitory processes in the presence of stimuli related to this minimization. The study pre-registration form can be found at https://doi.org/10.17605/OSF.IO/RKYHB
{"title":"Higher inhibitory control is required to escape the innate attraction to effort minimization","authors":"B. Cheval, Marcos Daou, D. A. Cabral, Mariane F. B. Bacelar, J. Parma, C. Forestier, Dan Orsholits, D. Sander, M. Boisgontier, Matthew W. Miller","doi":"10.31236/osf.io/cjmzq","DOIUrl":"https://doi.org/10.31236/osf.io/cjmzq","url":null,"abstract":"Recent evidence suggests humans have an automatic attraction to effort minimization. Yet, how this attraction is associated with response inhibition is still unclear. Here, we used go/no-go tasks to capture inhibitory control in response to stimuli depicting physical activity versus physical inactivity in 59 healthy young individuals. Higher commission errors (i.e., failure to refrain a response to a “no-go” stimulus) were used as a measure for inhibitory control. Based on the energetic cost minimization theory, we hypothesized that participants would exhibit higher commission errors when responding to stimuli depicting physical inactivity stimuli rather than physical activity stimuli. As expected, mixed effects models showed that, compared to physical activity stimuli, participants exhibited higher commission errors when responding to stimuli depicting physical inactivity (odds ratio = 1.59, 95% Confidence Interval [95%CI] = 1.18 to 2.16, p = .003). These results suggest that physical inactivity stimuli might require high response inhibition. This study lends support for the hypothesis that an attraction to effort minimization might affect inhibitory processes in the presence of stimuli related to this minimization. The study pre-registration form can be found at https://doi.org/10.17605/OSF.IO/RKYHB","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46029728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
During professional shooting tournaments, which typically last multiple hours, athletes must stay focused at all times in order to perform at their highest levels. Sustaining attention over extended periods of time relies on self-control. Crucially, perceived state self-control strength appears to wane as a function of task duration, which ultimately can impair shooting performance. In the present study, we tested the assumption that the level of self-reported self-control strength decreases over the course of a 1-hour shooting task measured twice during a regular training day and separated by a 2-hour break. Additionally, we assumed that shooting performance would be linked with fluctuations in self-control. A total of 21 shooters (14 elite and 7 sub-elite) took part in this study and were asked to perform a series of 10 shots at a standardized target, five times in the morning and five times in the afternoon (i.e., 100 shots total). The participants also reported their perceived state self-control strength at the baseline (prior to the start of the morning session as well as the afternoon session) and after a series of 10 shots each in the morning and afternoon (i.e., 12 measurements in total). In line with our hypotheses, we observed that perceived state self-control diminished with the number of shots performed, and that perceived state self-control could explain shooting performance. Additionally, these observations could explain the difference in shooting performance between elite and sub-elite athletes. The results suggest that the perception of self-control strength is highly important for optimal shooting performance. Practical implications are discussed.
{"title":"An investigation of the effects of self-reported self-control strength on shooting performance","authors":"C. Englert, A. Dziuba, W. Wolff, L. Giboin","doi":"10.31234/osf.io/2hncz","DOIUrl":"https://doi.org/10.31234/osf.io/2hncz","url":null,"abstract":"During professional shooting tournaments, which typically last multiple hours, athletes must stay focused at all times in order to perform at their highest levels. Sustaining attention over extended periods of time relies on self-control. Crucially, perceived state self-control strength appears to wane as a function of task duration, which ultimately can impair shooting performance. In the present study, we tested the assumption that the level of self-reported self-control strength decreases over the course of a 1-hour shooting task measured twice during a regular training day and separated by a 2-hour break. Additionally, we assumed that shooting performance would be linked with fluctuations in self-control. A total of 21 shooters (14 elite and 7 sub-elite) took part in this study and were asked to perform a series of 10 shots at a standardized target, five times in the morning and five times in the afternoon (i.e., 100 shots total). The participants also reported their perceived state self-control strength at the baseline (prior to the start of the morning session as well as the afternoon session) and after a series of 10 shots each in the morning and afternoon (i.e., 12 measurements in total). In line with our hypotheses, we observed that perceived state self-control diminished with the number of shots performed, and that perceived state self-control could explain shooting performance. Additionally, these observations could explain the difference in shooting performance between elite and sub-elite athletes. The results suggest that the perception of self-control strength is highly important for optimal shooting performance. Practical implications are discussed.","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43841257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In their commentaries on Hagger (2019), Gardner, Rebar, and Lally (2019) and Phillips (2019) provide welcome debate on the conceptualization and operation of habits in physical activity. In this response, I extend their comments by (i) calling for a redefining of habits to encompass contemporary views of habit, and (ii) suggesting that descriptions of physical activity habits should make reference to their relations with other implicit constructs that reflect automatic processes. Specifically, I contend that extant definitions of habits for complex behaviors like physical activity should move away from definitions of unitary responses to specific cues or contexts, and, focus on ‘macro’ expressions of the behavior that comprise multiple sub-actions, which can each be controlled by habitual or deliberative processing. It may also be useful for definitions to make the distinction between habitual instigation and execution, affording greater precision in descriptions of the processes that generate habitual behaviors. Finally, physical activity habits as cue-action relations are unlikely to be enacted in the absence of activation of other implicit processes, consistent with behavioral schema. Recognizing this, I contend that descriptions of habit should accommodate these links, and that they may be useful in elaborating on the processes by which habits determine subsequent physical activity behavior.
{"title":"Redefining habits and linking habits with other implicit processes","authors":"M. Hagger","doi":"10.31234/osf.io/v5q4e","DOIUrl":"https://doi.org/10.31234/osf.io/v5q4e","url":null,"abstract":"In their commentaries on Hagger (2019), Gardner, Rebar, and Lally (2019) and Phillips (2019) provide welcome debate on the conceptualization and operation of habits in physical activity. In this response, I extend their comments by (i) calling for a redefining of habits to encompass contemporary views of habit, and (ii) suggesting that descriptions of physical activity habits should make reference to their relations with other implicit constructs that reflect automatic processes. Specifically, I contend that extant definitions of habits for complex behaviors like physical activity should move away from definitions of unitary responses to specific cues or contexts, and, focus on ‘macro’ expressions of the behavior that comprise multiple sub-actions, which can each be controlled by habitual or deliberative processing. It may also be useful for definitions to make the distinction between habitual instigation and execution, affording greater precision in descriptions of the processes that generate habitual behaviors. Finally, physical activity habits as cue-action relations are unlikely to be enacted in the absence of activation of other implicit processes, consistent with behavioral schema. Recognizing this, I contend that descriptions of habit should accommodate these links, and that they may be useful in elaborating on the processes by which habits determine subsequent physical activity behavior.","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42266533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nikita Bhavsar, K. Bartholomew, E. Quested, D. Gucciardi, C. Thøgersen‐Ntoumani, J. Reeve, P. Sarrazin, N. Ntoumanis
Research guided by Self-determination Theory (Deci & Ryan, 1985; Ryan & Deci, 2017) has repeatedly demonstrated the importance of focusing on both the bright (satisfaction) and dark (frustration) sides of the three basic psychological needs. Recently, researchers have also argued for the utility of assessing a third need state, that of “unfulfillment”. In this paper, we outline an effort to develop and provide initial validity evidence for scores of a new multidimensional and sport-specific measure, the Psychological Need States in Sport-Scale (PNSS-S), to assess the satisfaction, frustration, and unfulfillment of all three needs. In Study 1, we tested evidence for the factorial structure of the responses to the newly developed items, and provided evidence for the internal consistency and discriminant validity of the subscale scores. Factor models incorporating all three need states showed poor fit with the data. However, following post-hoc modifications, a six-factor, 29-item model assessing the need states of satisfaction and frustration, separately for autonomy, competence, and relatedness, was found to have good fit to the data. The model was refined and the factor structure was re-tested using an independent sample of athletes in Study 2. Evidence for the nomological network of the six subscales of the new measure was demonstrated in Study 2, in terms of relations with athletes’ perceptions of their coaches’ interpersonal behaviors, and key motivation-related outcomes. In conclusion, a tripartite conceptualization of the need states was not empirically supported. Nevertheless, , the PNSS-S makes a unique contribution to the sport literature, as it represents the first sport-specific measure of six distinct, yet, correlated states of the satisfaction and frustration of autonomy, competence, and relatedness needs.
{"title":"Measuring psychological need states in sport: Theoretical considerations and a new measure","authors":"Nikita Bhavsar, K. Bartholomew, E. Quested, D. Gucciardi, C. Thøgersen‐Ntoumani, J. Reeve, P. Sarrazin, N. Ntoumanis","doi":"10.31234/osf.io/f8gzy","DOIUrl":"https://doi.org/10.31234/osf.io/f8gzy","url":null,"abstract":"Research guided by Self-determination Theory (Deci & Ryan, 1985; Ryan & Deci, 2017) has repeatedly demonstrated the importance of focusing on both the bright (satisfaction) and dark (frustration) sides of the three basic psychological needs. Recently, researchers have also argued for the utility of assessing a third need state, that of “unfulfillment”. In this paper, we outline an effort to develop and provide initial validity evidence for scores of a new multidimensional and sport-specific measure, the Psychological Need States in Sport-Scale (PNSS-S), to assess the satisfaction, frustration, and unfulfillment of all three needs. In Study 1, we tested evidence for the factorial structure of the responses to the newly developed items, and provided evidence for the internal consistency and discriminant validity of the subscale scores. Factor models incorporating all three need states showed poor fit with the data. However, following post-hoc modifications, a six-factor, 29-item model assessing the need states of satisfaction and frustration, separately for autonomy, competence, and relatedness, was found to have good fit to the data. The model was refined and the factor structure was re-tested using an independent sample of athletes in Study 2. Evidence for the nomological network of the six subscales of the new measure was demonstrated in Study 2, in terms of relations with athletes’ perceptions of their coaches’ interpersonal behaviors, and key motivation-related outcomes. In conclusion, a tripartite conceptualization of the need states was not empirically supported. Nevertheless, , the PNSS-S makes a unique contribution to the sport literature, as it represents the first sport-specific measure of six distinct, yet, correlated states of the satisfaction and frustration of autonomy, competence, and relatedness needs.","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48396220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sara L Van Driest, Quinn S Wells, Sarah Stallings, William S Bush, Adam Gordon, Deborah A Nickerson, Jerry H Kim, David R Crosslin, Gail P Jarvik, David S Carrell, James D Ralston, Eric B Larson, Suzette J Bielinski, Janet E Olson, Zi Ye, Iftikhar J Kullo, Noura S Abul-Husn, Stuart A Scott, Erwin Bottinger, Berta Almoguera, John Connolly, Rosetta Chiavacci, Hakon Hakonarson, Laura J Rasmussen-Torvik, Vivian Pan, Stephen D Persell, Maureen Smith, Rex L Chisholm, Terrie E Kitchner, Max M He, Murray H Brilliant, John R Wallace, Kimberly F Doheny, M Benjamin Shoemaker, Rongling Li, Teri A Manolio, Thomas E Callis, Daniela Macaya, Marc S Williams, David Carey, Jamie D Kapplinger, Michael J Ackerman, Marylyn D Ritchie, Joshua C Denny, Dan M Roden
<p><strong>Importance: </strong>Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.</p><p><strong>Objective: </strong>To determine the clinical phenotypes from EMRs for individuals with variants designated as pathogenic by expert review in arrhythmia susceptibility genes.</p><p><strong>Design, setting, and participants: </strong>This prospective cohort study included 2022 individuals recruited for nonantiarrhythmic drug exposure phenotypes from October 5, 2012, to September 30, 2013, for the Electronic Medical Records and Genomics Network Pharmacogenomics project from 7 US academic medical centers. Variants in SCN5A and KCNH2, disease genes for long QT and Brugada syndromes, were assessed for potential pathogenicity by 3 laboratories with ion channel expertise and by comparison with the ClinVar database. Relevant phenotypes were determined from EMRs, with data available from 2002 (or earlier for some sites) through September 10, 2014.</p><p><strong>Exposures: </strong>One or more variants designated as pathogenic in SCN5A or KCNH2.</p><p><strong>Main outcomes and measures: </strong>Arrhythmia or electrocardiographic (ECG) phenotypes defined by International Classification of Diseases, Ninth Revision (ICD-9) codes, ECG data, and manual EMR review.</p><p><strong>Results: </strong>Among 2022 study participants (median age, 61 years [interquartile range, 56-65 years]; 1118 [55%] female; 1491 [74%] white), a total of 122 rare (minor allele frequency <0.5%) nonsynonymous and splice-site variants in 2 arrhythmia susceptibility genes were identified in 223 individuals (11% of the study cohort). Forty-two variants in 63 participants were designated potentially pathogenic by at least 1 laboratory or ClinVar, with low concordance across laboratories (Cohen κ = 0.26). An ICD-9 code for arrhythmia was found in 11 of 63 (17%) variant carriers vs 264 of 1959 (13%) of those without variants (difference, +4%; 95% CI, -5% to +13%; P = .35). In the 1270 (63%) with ECGs, corrected QT intervals were not different in variant carriers vs those without (median, 429 vs 439 milliseconds; difference, -10 milliseconds; 95% CI, -16 to +3 milliseconds; P = .17). After manual review, 22 of 63 participants (35%) with designated variants had any ECG or arrhythmia phenotype, and only 2 had corrected QT interval longer than 500 milliseconds.</p><p><strong>Conclusions and relevance: </strong>Among laboratories experienced in genetic testing for cardiac arrhythmia disorders, there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype. These findings raise question
{"title":"Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.","authors":"Sara L Van Driest, Quinn S Wells, Sarah Stallings, William S Bush, Adam Gordon, Deborah A Nickerson, Jerry H Kim, David R Crosslin, Gail P Jarvik, David S Carrell, James D Ralston, Eric B Larson, Suzette J Bielinski, Janet E Olson, Zi Ye, Iftikhar J Kullo, Noura S Abul-Husn, Stuart A Scott, Erwin Bottinger, Berta Almoguera, John Connolly, Rosetta Chiavacci, Hakon Hakonarson, Laura J Rasmussen-Torvik, Vivian Pan, Stephen D Persell, Maureen Smith, Rex L Chisholm, Terrie E Kitchner, Max M He, Murray H Brilliant, John R Wallace, Kimberly F Doheny, M Benjamin Shoemaker, Rongling Li, Teri A Manolio, Thomas E Callis, Daniela Macaya, Marc S Williams, David Carey, Jamie D Kapplinger, Michael J Ackerman, Marylyn D Ritchie, Joshua C Denny, Dan M Roden","doi":"10.1001/jama.2015.17701","DOIUrl":"10.1001/jama.2015.17701","url":null,"abstract":"<p><strong>Importance: </strong>Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.</p><p><strong>Objective: </strong>To determine the clinical phenotypes from EMRs for individuals with variants designated as pathogenic by expert review in arrhythmia susceptibility genes.</p><p><strong>Design, setting, and participants: </strong>This prospective cohort study included 2022 individuals recruited for nonantiarrhythmic drug exposure phenotypes from October 5, 2012, to September 30, 2013, for the Electronic Medical Records and Genomics Network Pharmacogenomics project from 7 US academic medical centers. Variants in SCN5A and KCNH2, disease genes for long QT and Brugada syndromes, were assessed for potential pathogenicity by 3 laboratories with ion channel expertise and by comparison with the ClinVar database. Relevant phenotypes were determined from EMRs, with data available from 2002 (or earlier for some sites) through September 10, 2014.</p><p><strong>Exposures: </strong>One or more variants designated as pathogenic in SCN5A or KCNH2.</p><p><strong>Main outcomes and measures: </strong>Arrhythmia or electrocardiographic (ECG) phenotypes defined by International Classification of Diseases, Ninth Revision (ICD-9) codes, ECG data, and manual EMR review.</p><p><strong>Results: </strong>Among 2022 study participants (median age, 61 years [interquartile range, 56-65 years]; 1118 [55%] female; 1491 [74%] white), a total of 122 rare (minor allele frequency <0.5%) nonsynonymous and splice-site variants in 2 arrhythmia susceptibility genes were identified in 223 individuals (11% of the study cohort). Forty-two variants in 63 participants were designated potentially pathogenic by at least 1 laboratory or ClinVar, with low concordance across laboratories (Cohen κ = 0.26). An ICD-9 code for arrhythmia was found in 11 of 63 (17%) variant carriers vs 264 of 1959 (13%) of those without variants (difference, +4%; 95% CI, -5% to +13%; P = .35). In the 1270 (63%) with ECGs, corrected QT intervals were not different in variant carriers vs those without (median, 429 vs 439 milliseconds; difference, -10 milliseconds; 95% CI, -16 to +3 milliseconds; P = .17). After manual review, 22 of 63 participants (35%) with designated variants had any ECG or arrhythmia phenotype, and only 2 had corrected QT interval longer than 500 milliseconds.</p><p><strong>Conclusions and relevance: </strong>Among laboratories experienced in genetic testing for cardiac arrhythmia disorders, there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype. These findings raise question","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":"1 1","pages":"47-57"},"PeriodicalIF":29.0,"publicationDate":"2016-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76845906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2002-01-01Epub Date: 2001-09-28DOI: 10.1186/ar379
Thomas Kamradt
Lyme disease is a tick-borne multisystem disease that affects primarily the skin, nervous system, heart and joints. At least three species of Borrelia burgdorferi sensu lato, namely Borrelia burgdorferi sensu stricto, Borrelia garinii, and Borrelia afzelii, can cause the disease. This review will focus mainly on the pathophysiology of Lyme arthritis, the long-term outcome of Lyme disease, and the recently licensed vaccine against Lyme disease.
{"title":"Lyme disease and current aspects of immunization.","authors":"Thomas Kamradt","doi":"10.1186/ar379","DOIUrl":"10.1186/ar379","url":null,"abstract":"<p><p>Lyme disease is a tick-borne multisystem disease that affects primarily the skin, nervous system, heart and joints. At least three species of Borrelia burgdorferi sensu lato, namely Borrelia burgdorferi sensu stricto, Borrelia garinii, and Borrelia afzelii, can cause the disease. This review will focus mainly on the pathophysiology of Lyme arthritis, the long-term outcome of Lyme disease, and the recently licensed vaccine against Lyme disease.</p>","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":"13 1","pages":"20-9"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC128914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76951826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Y Terajima, H Nukui, A Kobayashi, S Fujimoto, S Hase, T Yoshioka, T Hashiba, S Satoh
The cDNA encoding a novel member (NT-ERS1) of ethylene receptor family of tobacco (Nicotiana tabacum L.) was obtained by a combination of RT-PCR and 5'-/3'-RACE cloning. The cDNA was 2,092 nucleotides long and had an open reading frame of 1,911 bp encoding 637 amino acids. The deduced polypeptide lacked a response regulator domain, indicating that the ethylene receptor belongs to an ERS-group. The amino acid sequence was similar to respective members of the tobacco ethylene receptor family: 67.8% to NT-ETR1, 39.1% to NTHK1 and 31.1% to NTHK2. Comparison of amino acid sequence suggested that NT-ERS1 is the counterpart of Nr in the ethylene receptor family of tomato, which belongs to Solanaceae as does tobacco. Northern blot analysis showed that mRNA of NT-ERS1 was present in leaf, shoot and root tissues, and accumulated in leaves treated with exogenous ethylene. A mutated NT-ERS1 cDNA transgene, obtained by introducing one nucleotide substitution into NT-ETR1 cDNA, conferred ethylene insensitivity in tobacco plants, indicating that the translation product of the cDNA actually functioned in the plants.
{"title":"Molecular cloning and characterization of a cDNA for a novel ethylene receptor, NT-ERS1, of tobacco (Nicotiana tabacum L.).","authors":"Y Terajima, H Nukui, A Kobayashi, S Fujimoto, S Hase, T Yoshioka, T Hashiba, S Satoh","doi":"10.1093/pcp/pce038","DOIUrl":"10.1093/pcp/pce038","url":null,"abstract":"<p><p>The cDNA encoding a novel member (NT-ERS1) of ethylene receptor family of tobacco (Nicotiana tabacum L.) was obtained by a combination of RT-PCR and 5'-/3'-RACE cloning. The cDNA was 2,092 nucleotides long and had an open reading frame of 1,911 bp encoding 637 amino acids. The deduced polypeptide lacked a response regulator domain, indicating that the ethylene receptor belongs to an ERS-group. The amino acid sequence was similar to respective members of the tobacco ethylene receptor family: 67.8% to NT-ETR1, 39.1% to NTHK1 and 31.1% to NTHK2. Comparison of amino acid sequence suggested that NT-ERS1 is the counterpart of Nr in the ethylene receptor family of tomato, which belongs to Solanaceae as does tobacco. Northern blot analysis showed that mRNA of NT-ERS1 was present in leaf, shoot and root tissues, and accumulated in leaves treated with exogenous ethylene. A mutated NT-ERS1 cDNA transgene, obtained by introducing one nucleotide substitution into NT-ETR1 cDNA, conferred ethylene insensitivity in tobacco plants, indicating that the translation product of the cDNA actually functioned in the plants.</p>","PeriodicalId":94181,"journal":{"name":"Psychology of sport and exercise","volume":"30 1","pages":"308-13"},"PeriodicalIF":4.9,"publicationDate":"2001-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/pcp/pce038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84567324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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