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

Factors Associated with Revision Surgery after Internal Fixation of Hip Fractures

Background: Femoral neck fractures are associated with high rates of revision surgery after management with internal fixation. Using data from the Fixation using Alternative Implants for the Treatment of Hip fractures (FAITH) trial evaluating methods of internal fixation in patients with femoral neck fractures, we investigated associations between baseline and surgical factors and the need for revision surgery to promote healing, relieve pain, treat infection or improve function over 24 months postsurgery. Additionally, we investigated factors associated with (1) hardware removal and (2) implant exchange from cancellous screws (CS) or sliding hip screw (SHS) to total hip arthroplasty, hemiarthroplasty, or another internal fixation device. Methods: We identified 15 potential factors a priori that may be associated with revision surgery, 7 with hardware removal, and 14 with implant exchange. We used multivariable Cox proportional hazards analyses in our investigation. Results: Factors associated with increased risk of revision surgery included: female sex, [hazard ratio (HR) 1.79, 95% confidence interval (CI) 1.25-2.50; P = 0.001], higher body mass index (fo

Home-Based Cognitively Assistive Robots: Maximizing Cognitive Functioning and Maintaining Independence in Older Adults Without Dementia.

Promoting health and prolonging independence in the home is a priority for older adults, caregivers, clinicians, and society at large. Rapidly developing robotics technology provides a platform for interventions, with the fields of physically and socially assistive robots expanding in recent years. However, less attention has been paid to using robots to enhance the cognitive health of older adults. The goal of this review is to synthesize the current literature on home-based cognitively assistive robots (CAR) in older adults without dementia and to provide suggestions to improve the quality of the scientific evidence in this subfield. First, we set the stage for CAR by: a) introducing the field of robotics to improve health, b) summarizing evidence emphasizing the importance of home-based interventions for older adults, c) reviewing literature on robot acceptability in older adults, d) highlighting important ethical issues in healthcare robotics, and e) reviewing current findings on socially assistive robots, with a focus on translating findings to the CAR context. With this foundation in place, we then review the literature on CAR, identifying gaps and limitations of current evidence, and proposing future directions for research. We conclude that CAR is promising and feasible and that there is a need for more methodologically rigorous evaluations of CAR to promote prolonged home-based independence in older adults

Reducing negative symptoms in schizophrenia: Feasibility and acceptability of a combined cognitive-behavioral social skills training and compensatory cognitive training intervention

The current study examined the feasibility and acceptability of an integrated Cognitive-Behavioral Social Skills Training and Compensatory Cognitive Training (CBSST-CCT) intervention compared with Goal-Focused Supportive Contact (SC) in a pilot randomized controlled trial for people with schizophrenia with high negative symptom severity. The sample included 55 participants from five community settings; masters-level study clinicians delivered interventions on-site. Participants completed assessments of cognitive, functional, and psychiatric symptoms at baseline, mid-treatment, post-treatment (12.5 weeks), and 6-month follow-up. Enrollment goals were not initially met, necessitating the addition of a fifth site; however, all groups and assessments were completed on-site. Study procedures were acceptable, as evidenced by 100% enrollment and completion of baseline assessments following informed consent; however, over 1/3rd of participants dropped out. No modifications were necessary to the intervention procedures and CBSST-CCT fidelity ratings were acceptable. The intervention was deemed acceptable among participants who attended ≥1 session, as evidenced by similar attendance rates in CBSST-CCT compared to SC. Among CBSST-CCT participants, lower positive symptoms were significantly associated with better attendance. Overall, we found mixed evidence for the feasibility and acceptability of the CBSST-CCT protocol in people with schizophrenia with high negative symptoms. Challenges are highlighted and recommendations for future investigations are provided

Rates of Cognitive and Functional Impairments Among Sheltered Adults Experiencing Homelessness

ObjectiveThis study examined rates of objective cognitive and functional impairments and associations between cognitive performance and performance-based functional capacity in a well-characterized sample of adults experiencing homelessness.MethodsOne hundred participants completed a brief neuropsychological and functional capacity assessment and self-report questionnaires. Cognitive impairment rates were determined by comparing mean scores with published normative data, as well as by examining frequency of scores >1 SD below the mean. Pearson correlations were used to examine associations between cognitive and functional capacities.ResultsOverall, 65% of the study participants had scores in the cognitively impaired range on a brief cognitive screening test, 30% had impaired processing speed, and 11% met cognitive criteria for intellectual disability. Furthermore, 48% of the sample met functional impairment criteria, and poorer cognitive performance was strongly associated with poorer performance-based functional capacity (p<0.001).ConclusionsCognitive and functional impairments are common among sheltered adults experiencing homelessness, underscoring the need for routine objective cognitive screening and rehabilitation services

Modifiable Predictors of Supported Employment Outcomes Among People With Severe Mental Illness.

ObjectiveAmong people with severe mental illnesses, neuropsychological abilities may contribute to vocational outcomes, such as job attainment, job tenure, and wages earned. The current study aimed to determine the strongest neuropsychological and other modifiable predictors of work outcomes in 153 people with severe mental illness (schizophrenia, 38%; bipolar disorder, 24%; and major depression, 38%) who participated in a 2-year supported employment study.MethodsAssessments of neuropsychological performance, functional capacity, social skills, and psychiatric symptom severity were administered at baseline; work outcomes (job attainment, weeks worked, and wages earned) were collected weekly for 2 years.ResultsIndependent of education, diagnosis, and estimated intellectual functioning, more recent work history and less severe negative symptoms significantly predicted job attainment during the 2-year study. Among the 47% who obtained jobs, better global neuropsychological performance (i.e., lower global deficit score) was a significant predictor of greater weeks worked. Both global neuropsychological performance and more recent work history predicted higher wages earned.ConclusionsModifiable predictors of supported employment outcomes included cognitive functioning and negative symptom severity; thus, interventions to improve these factors may improve work outcomes and decrease the loss of productivity associated with severe mental illness

Mild Traumatic Brain Injury Burden Moderates the Relationship Between Cognitive Functioning and Suicidality in Iraq/Afghanistan-Era Veterans

ObjectivesSuicidal ideation (SI) is highly prevalent in Iraq/Afghanistan-era veterans with a history of mild traumatic brain injury (mTBI), and multiple mTBIs impart even greater risk for poorer neuropsychological functioning and suicidality. However, little is known about the cognitive mechanisms that may confer increased risk of suicidality in this population. Thus, we examined relationships between neuropsychological functioning and suicidality and specifically whether lifetime mTBI burden would moderate relationships between cognitive functioning and suicidal ideation.MethodsIraq/Afghanistan-era Veterans with a history of mTBI seeking outpatient services (N = 282) completed a clinical neuropsychological assessment and psychiatric and postconcussive symptom questionnaires.ResultsIndividuals who endorsed SI reported more severe post-traumatic stress disorder (PTSD), depression, and postconcussive symptoms and exhibited significantly worse memory performance compared to those who denied SI. Furthermore, mTBI burden interacted with both attention/processing speed and memory, such that poorer performance in these domains was associated with greater likelihood of SI in individuals with a history of three or more mTBIs. The pattern of results remained consistent when controlling for PTSD, depression, and postconcussive symptoms.ConclusionsSlowed processing speed and/or memory difficulties may make it challenging to access and use past experiences to solve current problems and imagine future outcomes, leading to increases in hopelessness and SI in veterans with three or more mTBIs. Results have the potential to better inform treatment decisions for veterans with history of multiple mTBIs. (JINS, 2019, 25, 79-89)

Integrated Cognitive-Behavioral Social Skills Training and Compensatory Cognitive Training for Negative Symptoms of Psychosis: Effects in a Pilot Randomized Controlled Trial

ObjectiveNegative symptoms and cognitive impairment in schizophrenia (SZ) remain unmet treatment needs as they are highly prevalent, associated with poor functional outcomes, and resistant to pharmacologic treatment. The current pilot randomized controlled trial examined the efficacy of an integrated Cognitive-Behavioral Social Skills Training and Compensatory Cognitive Training (CBSST-CCT) intervention compared to Goal-focused Supportive Contact (SC) on negative symptoms and cognitive performance.MethodsFifty-five adults with SZ or schizoaffective disorder with moderate-to-severe negative symptoms were randomized to receive 25 twice-weekly, 1-h manualized group sessions (12.5 weeks total duration) of either CBSST-CCT or SC delivered by master's level clinicians in five community settings. Assessments of negative symptom severity (primary outcomes) and neuropsychological performance, functional capacity, social skills performance, and self-reported functional ability/everyday functioning, psychiatric symptom severity, and motivation (secondary outcomes) were administered at baseline, mid-treatment, post-treatment, and 6-month follow-up.ResultsMixed-effects models using baseline, mid-treatment, and post-treatment data demonstrated significant CBSST-CCT-associated effects on negative symptom severity, as assessed by the Scale for the Assessment of Negative Symptoms (p = .049, r = 0.22), with improvements in diminished motivation driving this effect (p = .037, r = 0.24). The CBSST-CCT group also demonstrated improved verbal learning compared to SC participants (p = .026, r = 0.36). The effects of CBSST-CCT appeared to be durable at 6-month follow-up.ConclusionsCBSST-CCT improved negative symptom severity and verbal learning in high-negative-symptom individuals relative to SC. CBSST-CCT warrants larger investigations to examine its efficacy in treating negative symptoms, along with other symptoms, cognition, and, ultimately, real-world functional outcomes. Clinical Trial registration number NCT02170051