Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Perceived cognitive difficulties and cognitive test performance as predictors of employment outcomes in people with multiple sclerosis

Perceived cognitive difficulties and cognitive impairment are important determinants of employment in people with multiple sclerosis (pwMS). However, it is not clear how they are related to adverse work outcomes and whether the relationship is influenced by depressive symptoms. Thus, this study examined perceived and actual general cognitive and prospective memory function, and cognitive appraisal accuracy, in relation to adverse work outcomes. The possible mediating and/or moderating role of depression was also examined. A cross-sectional community-based sample of 111 participants (33 males, 78 females) completed the Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ), Beck Depression Inventory – Fast Screen (BDI-FS), and questions related to their current or past employment. They then underwent cognitive testing using the Screening Examination for Cognitive Impairment, Auditory Consonant Trigrams test, Zoo Map Test, and Cambridge Prospective Memory Test. Perceived general cognitive and prospective memory difficulties in the workplace and performance on the respective cognitive tests were found to predict unemployment and reduced work hours since MS diagnosis due to MS. Depression was also related to reduced work hours, but it did not explain the relationship between perceived cognitive difficulties and the work outcomes. Nor was it related to cognitive test performance. The results highlight a need to address the perceptions of cognitive difficulties together with cognitive impairment and levels of depression in vocational rehabilitation programs in pwMS.13 page(s

Perceived Cognitive Difficulties and Cognitive Test Performance as Predictors of Employment Outcomes in People with Multiple Sclerosis

Perceived cognitive difficulties and cognitive impairment are important determinants of employment in people with multiple sclerosis (pwMS). However, it is not clear how they are related to adverse work outcomes and whether the relationship is influenced by depressive symptoms. Thus, this study examined perceived and actual general cognitive and prospective memory function, and cognitive appraisal accuracy, in relation to adverse work outcomes. The possible mediating and/or moderating role of depression was also examined. A cross-sectional community-based sample of 111 participants (33 males, 78 females) completed the Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ), Beck Depression Inventory – Fast Screen (BDI-FS), and questions related to their current or past employment. They then underwent cognitive testing using the Screening Examination for Cognitive Impairment, Auditory Consonant Trigrams test, Zoo Map Test, and Cambridge Prospective Memory Test. Perceived general cognitive and prospective memory difficulties in the workplace and performance on the respective cognitive tests were found to predict unemployment and reduced work hours since MS diagnosis due to MS. Depression was also related to reduced work hours, but it did not explain the relationship between perceived cognitive difficulties and the work outcomes. Nor was it related to cognitive test performance. The results highlight a need to address the perceptions of cognitive difficulties together with cognitive impairment and levels of depression in vocational rehabilitation programs in pwMS

The Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ): development of a shortened scale

Background: The Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ) is a recently developed, internally consistent and valid 50-item measure of self-reported workplace difficulties in pwMS. Objective: In this study, the second-order factor structure of the MSWDQ was assessed, with the aim of developing a short version of the scale. Methods: Cross-sectional MSWDQ data were obtained along with employment and MS disease information, in a community-based sample of 189 pwMS. Final items for the shortened version were selected to ensure both item breadth and adequacy of psychometric properties. Results: Confirmatory Factor Analysis on the 12 MSWDQ factors yielded a model comprised of three second-order factors termed physical barriers, psychological/cognitive barriers and external barriers, which formed the basis of the shorter 23-item scale, the MSWDQ-23. The MSWDQ-23 showed excellent subscale internal consistencies. It explained 29% of the variance in reduced work hours since diagnosis, 22% of the variance in expectations of withdrawing from work, 24% of the variance in expectations of reduced work hours and 32% of the variance in expectations of changing type of work due to MS. Conclusion: The MSWDQ-23 is a brief valid and internally consistent measure of workplace difficulties that can predict both employment outcomes and expectations in pwMS. It is an especially useful tool for clinicians who wish to quickly obtain an indication of the extent of psychological/cognitive, physical and/or external difficulties experienced by individual pwMS in the workplace.Implications for RehabilitationThe MSWDQ-23 is a shortened self-report survey that examines work difficulties in people with MS across three broad domains: psychological/ cognitive barriers, physical barriers and external barriers.The MSWDQ-23 is a valid and reliable measure that is capable of predicting various employment outcomes and expectations

Diagnostic efficiency of ImPACT and CogSport in concussed rugby union players who have not undergone baseline neurocognitive testing

The current study endeavored to replicate the approach to sports-related concussion management adopted by some community-based sporting organizations by examining the diagnostic efficiency of CogSport and ImPACT in athletes without baseline test data and assessed only once postinjury. Recently concussed nonelite-level rugby union players (N=51) were tested within 72 hours of sustaining a concussion and were compared to nonconcussed matched controls (N=41). Demographic information and history of recent concussion were also collected. Logistic regression analysis and receiver-operating characteristic curve analysis were conducted to evaluate the most accurate scores at identifying group membership. Overall, the classification accuracy of CogSport and ImPACT represented only very minimal improvements over a demographic-only (age, estimated premorbid Full-Scale IQ, and number of previous concussions) model. Positive predictive power and negative predictive power of composite scores were modest. The ImPACT postconcussion symptoms total (severity) score was most accurate at classifying concussed athletes. Where neuropsychological tests are utilized on a single occasion postconcussion and in the absence of baseline testing, postinjury testing does not improve diagnostic utility beyond the demographic model. These results do not validate this approach as a useful method of managing sports-related concussion.8 page(s

The Awareness of Social Inference Test : development of a shortened version for use in adults with acquired brain injury

Objective: The Awareness of Social Inference Test (TASIT) is an ecologically valid test of complex social perception. Despite its utility for detecting social perception deficits in clinical groups, its lengthy administration time has limited its routine use in clinical practice. This paper describes the development and validation of a shortened version of the TASIT (TASIT-S) in 160 individuals (males = 129) with moderate to severe acquired brain injury (ABI). Method: Both Rasch and confirmatory factor analysis modeling were used to create the TASIT-S, which, consistent with the original test, included the following subtests: (1) Emotion Evaluation Test (10 items), assessing basic emotion recognition; (2) Social Inference (Minimal) Test (9 items), assessing understanding of sincere and sarcastic exchanges; and (3) Social Inference (Enriched) Test (9 items), assessing comprehension of lies and sarcasm. Results: The TASIT-S demonstrated excellent construct validity as evidenced by its high correlations with the original TASIT and correlations with social cognition and cognitive neuropsychological measures. Importantly, the TASIT-S also successfully differentiated between ABI participants and healthy controls (n = 43). Conclusions: The new shortened version of the TASIT is a promising new tool with excellent psychometric properties that can assist clinicians with the detection of complex social perception deficits in ABI.22 page(s

No evidence that alcohol intoxication impairs judgments of learning in face recognition

Alcohol use is frequently involved in crime, making it crucial to understand the role of alcohol in facial recognition to maximize correct perpetrator identifications. Although the majority of the alcohol and face recognition research has investigated recognition with retrospective confidence judgments, we examined the effects of alcohol intoxication on face recognition with prospective metacognitive judgments. Participants (N=54 university students without a history of hazardous alcohol/substance use) consumed either alcohol (mean breath alcohol concentration of 0.06 at pretest and 0.07 at post-test) or a non-alcoholic placebo drink. Participants then studied unfamiliar male and female faces and made judgments of learning (JOLs) for each face (i.e., predicted the likelihood of recognizing that face on a future memory test). After a brief distractor task, participants completed an old-new recognition test on which they attempted to distinguish the studied faces from new faces. It was found that the alcohol manipulation had minimal effect on face recognition performance or judgments of learning. Our results suggest that theory-based cues about the effects of alcohol might play a greater role in retrospective judgments than prospective judgments. Although not a primary focus of the study, face recognition was better for male faces than female faces, and this occurred for both female and male participants. Limitations and implications of the research are discussed

No evidence that alcohol intoxication impairs judgments of learning in face recognition

Alcohol use is frequently involved in crime, making it crucial to understand the role of alcohol in facial recognition to maximize correct perpetrator identifications. Although the majority of the alcohol and face recognition research has investigated recognition with retrospective confidence judgments, we examined the effects of alcohol intoxication on face recognition with prospective metacognitive judgments. Participants (N=54 university students without a history of hazardous alcohol/substance use) consumed either alcohol (mean breath alcohol concentration of 0.06 at pretest and 0.07 at post-test) or a non-alcoholic placebo drink. Participants then studied unfamiliar male and female faces and made judgments of learning (JOLs) for each face (i.e., predicted the likelihood of recognizing that face on a future memory test). After a brief distractor task, participants completed an old-new recognition test on which they attempted to distinguish the studied faces from new faces. It was found that the alcohol manipulation had minimal effect on face recognition performance or judgments of learning. Our results suggest that theory-based cues about the effects of alcohol might play a greater role in retrospective judgments than prospective judgments. Although not a primary focus of the study, face recognition was better for male faces than female faces, and this occurred for both female and male participants. Limitations and implications of the research are discussed

The Multiple Sclerosis Work Difficulties Questionnaire

Background: A better understanding of the workplace difficulties experienced by people with multiple sclerosis (PwMS) may be critical to developing appropriate vocational and rehabilitative programs.Objective: We aimed to assess the factor structure, internal consistency and validity of the new Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ).Methods: Work difficulty items were developed and reviewed by a panel of experts. Using the MSWDQ, cross-sectional self-report data of work difficulties were obtained in addition to employment status and MS disease information, in a community-based sample of 189 PwMS.Results: Exploratory Maximum Likelihood Factor Analysis on the draft questionnaire yielded 50 items measuring 12 factors. Subscale internal consistencies ranged from 0.74 to 0.92, indicating adequate to excellent internal consistency reliability. The MSWDQ explained 40% of the variance in reduced work hours since diagnosis, 40% of the variance in expectations about withdrawing from work, 34% of the variance in expectations about reducing work hours, and 39% of the variance in expectations about changing type of work due to MS.Conclusion: The MSWDQ is a valid and internally reliable measure of workplace difficulties in PwMS. Physical difficulties, as well as cognitive and psychological difficulties were important predictors of workplace outcomes and expectations about future employment