A novel missense mutation in PSEN2 gene associated with a clinical phenotype of frontotemporal dementia

Background: In Familial Alzheimer's disease defects in three genes - the amyloid precursors protein (APP) gene on chromosome 21, the presenilin 1 (PSEN1) gene on chromosome 14 and the presenilin 2 (PSEN2) on chromosome 1- have been identified. More than 160 pathogenic missense mutations have been described in PSEN1, with wide clinic phenotypic variability. In PSEN2 only 11 missense mutations are known, in two of which (M239V and T122R) the clinical phenotype may be frontotemporal dementia-like. Methods: We present a novel PSEN2 mutation (Y231C) in an Italian patient who seven years ago, at age 55, manifested mood and behavioural disorders characterized by apathia, delusions, physical aggressive behaviour and psychomotor agitation. Language disturbances appeared one year later and mild memory loss three years later. The neuropsychological pattern suggested a main dysfunction in posterior temporal and parietal cortex. MRI showed diffuse atrophy, especially in posterior regions. Results: The genetic study showed an A-to-G mutation in exon seven of PSEN2 gene, resulting in tyrosine to cysteine substitution at residue 231. Conclusions: This new mutation confirms the variability of the phenotypes associated with PSEN2 mutations and justified the analysis of this gene in behavioural disturbances associated with degenerative dementia, at least in Italy in which PSEN2 mutations seems more frequent than in other countries

The Utility of Quantile Regression in Disaster Research

Following disasters, population-based screening programs are routinely established to assess psychological consequences of exposure. These data sets are highly skewed as only a small percentage of trauma-exposed individuals develop adverse mental health outcomes. Commonly used statistical methodology in disaster research generally involves population-averaged models, such as linear and logistic regressions. However, these models offer only a partial explanation of the complex relationships between the extent of disaster exposure, individual characteristics and adverse mental health outcomes. The aim of this report is to illustrate the benefits of using quantile regression in disaster research by analyzing the effects of a selected exposure variable, perceived threat to one’s life, and education level on post-traumatic stress symptomatology among n=2960 non-rescue disaster workers exposed to the World Trade Center (WTC) disaster in New York City on 9/11. The findings of the study are in line with previous WTC research that documented the link between perceived danger associated with disaster work, low education level and elevated post-traumatic stress symptomatology. However, the use of quantile regression demonstrates the robust and differential association between these variables throughout the entire distribution of post-traumatic stress symptomatology. Specifically, we show that the effect of high perceived danger and low education level were more strongly associated with post-traumatic stress symptoms in the upper tail of the distribution, after adjusting for covariates. Quantile regression methodology has the potential to enrich disaster research by tackling research questions that were previously unanswered. This method may be particularly useful in analyzing large population-based screening programs

Self-Reported Arm Function Is Associated with Stress and Fear of Physical Activity among Women Treated for Breast Cancer

Background: Self-reported upper extremity function and objective measures are not strongly associated with each other in women treated for breast cancer (BC). It is not known if the lack of relationship between self-reported upper extremity function and objective measurements may be influenced by perceived levels of stress and fear of physical activity. The purpose of this study was to investigate the relationships between self-reported upper extremity function and the following: perceived stress levels (PS), fear of physical activity (FPA), health-related quality of life (HRQOL), and objective measures of upper extremity function among women treated for BC. Methods: This cross-sectional observational study included 23 women diagnosed with breast cancer 12-60 months prior to data collection. Self-reported upper extremity function, PS, HRQOL and FPA were assessed using the Disabilities of the Arm, Shoulder and Hand (DASH), Perceived Stress Scale (PSS), Functional Assessment of Cancer Therapy-Breast Cancer (FACT-B), and Fear of Physical Activity and Exercise for Breast Cancer (FPAX-B), respectively. Objective shoulder measures included range of motion (ROM), strength, and muscular endurance. Results: The DASH was significantly correlated (p\u3c0.001) with the FACT-B, PSS, and FPAX-B (r=-0.863; r= -0.733; r= -0.709 respectively). No significant correlation was found between the DASH and objective measures except non-dominant shoulder endurance (p\u3c0.05, r=-0.432). Conclusions: There is a significant relationship between the self-reported arm function, PS, HRQOL and FPA among women treated for BC. Further research should be done to understand the role that PS and FPA have on the perceived level of upper extremity function that women treated for BC report

Realistic and interactive high-resolution 4D environments for real-time surgeon and patient interaction

Copyright © 2016 John Wiley & Sons, Ltd. Background: Remote consultations that are realistic enough to be useful medically offer considerable clinical, logistical and cost benefits. Despite advances in virtual reality and vision hardware and software, these benefits are currently often unrealised. Method: The proposed approach combines high spatial and temporal resolution 3D and 2D machine vision with virtual reality techniques, in order to develop new environments and instruments that will enable realistic remote consultations and the generation of new types of useful clinical data. Results: New types of clinical data have been generated for skin analysis and respiration measurement; and the combination of 3D with 2D data was found to offer potential for the generation of realistic virtual consultations. Conclusion: An innovative combination of high resolution machine vision data and virtual reality online methods, promises to provide advanced functionality and significant medical benefits, particularly in regions where populations are dispersed or access to clinicians is limited. Copyright © 2016 John Wiley & Sons, Ltd

Effect of Aging on Human Mesenchymal Stem Cell Therapy in Ischemic Cardiomyopathy Patients

AbstractBackgroundThe role of patient age in the efficacy of mesenchymal stem cell (MSC) therapy in ischemic cardiomyopathy (ICM) is controversial.ObjectivesThis study sought to determine whether the therapeutic effect of culture-expanded MSCs persists, even in older subjects.MethodsPatients with ICM who received MSCs via transendocardial stem cell injection (TESI) as part of the TAC-HFT (Transendocardial Autologous Cells in Ischemic Heart Failure) (n = 19) and POSEIDON (Percutaneous Stem Cell Injection Delivery Effects on Neomyogenesis) (n = 30) clinical trials were divided into 2 age groups: younger than 60 and 60 years of age and older. Functional capacity was measured by 6-min walk distance (6MWD) and quality of life using the Minnesota Living With Heart Failure Questionnaire (MLHFQ) score, measured at baseline, 6 months, and 1 year post-TESI. Various cardiac imaging parameters, including absolute scar size, were compared at baseline and 1 year post-TESI.ResultsThe mean 6MWD was similar at baseline and increased at 1 year post-TESI in both groups: 48.5 ± 14.6 m (p = 0.001) for the younger and 35.9 ± 18.3 m (p = 0.038) for the older participants (p = NS between groups). The older group exhibited a significant reduction in MLHFQ score (−7.04 ± 3.54; p = 0.022), whereas the younger than 60 age group had a borderline significant reduction (−11.22 ± 5.24; p = 0.058) from baseline (p = NS between groups). Although there were significant reductions in absolute scar size from baseline to 1 year post-TESI, the effect did not differ by age.ConclusionsMSC therapy with TESI in ICM patients improves 6MWD and MLHFQ score and reduces myocardial infarction size. Importantly, older individuals did not have an impaired response to MSC therapy

Topologies for combining the Internet of Things and Serious Games

Serious Games have been established over recent years as a means of utilising gaming for applications other than entertainment.With the emergence of the Internet of Things (IoT) paradigm, a new direction for serious games arises, where data gathered from the physical environment can be utilised towards new novel applications. This literature survey uncovers existing topologies that can be applied for combining IoT with Serious Games. This paper presents findings from extensive research into IoT, Serious Games, Pervasive Games and Gamification, IoT topologies and Wireless Sensor Networks (WSN), to identify the requirements of a topology for Serious Games and IoT. By understanding the topological requirements for combining IoT and Serious Games, the development process is reduced, allowing for the advancement in the mentioned field. Three topologies are presented for combining IoT with Serious Games and a detailed topology for developing a Serious Game that monitors student attendance is presented. Also included, is an insight into the new paradigm of Smart Serious Games (SSGs). This paper will aid future research and development in SSGs determine effective network topologies

From presence to consciousness through virtual reality

Immersive virtual environments can break the deep, everyday connection between where our senses tell us we are and where we are actually located and whom we are with. The concept of 'presence' refers to the phenomenon of behaving and feeling as if we are in the virtual world created by computer displays. In this article, we argue that presence is worthy of study by neuroscientists, and that it might aid the study of perception and consciousness

D-cycloserine augmentation of exposure-based cognitive behavior therapy for anxiety, obsessive-compulsive, and posttraumatic stress disorders: a systematic review and meta-analysis of individual participant data

Importance: Whether and under which conditions D-cycloserine (DCS) augments the effects of exposure-based cognitive behavior therapy for anxiety, obsessive-compulsive, and posttraumatic stress disorders is unclear. Objective: To clarify whether DCS is superior to placebo in augmenting the effects of cognitive behavior therapy for anxiety, obsessive-compulsive, and posttraumatic stress disorders and to evaluate whether antidepressants interact with DCS and the effect of potential moderating variables. Data Sources: PubMed, EMBASE, and PsycINFO were searched from inception to February 10, 2016. Reference lists of previous reviews and meta-analyses and reports of randomized clinical trials were also checked. Study Selection: Studies were eligible for inclusion if they were (1) double-blind randomized clinical trials of DCS as an augmentation strategy for exposure-based cognitive behavior therapy and (2) conducted in humans diagnosed as having specific phobia, social anxiety disorder, panic disorder with or without agoraphobia, obsessive-compulsive disorder, or posttraumatic stress disorder. Data Extraction and Synthesis: Raw data were obtained from the authors and quality controlled. Data were ranked to ensure a consistent metric across studies (score range, 0-100). We used a 3-level multilevel model nesting repeated measures of outcomes within participants, who were nested within studies. Results: Individual participant data were obtained for 21 of 22 eligible trials, representing 1047 of 1073 eligible participants. When controlling for antidepressant use, participants receiving DCS showed greater improvement from pretreatment to posttreatment (mean difference, -3.62; 95% CI, -0.81 to -6.43; P = .01; d = -0.25) but not from pretreatment to midtreatment (mean difference, -1.66; 95% CI, -4.92 to 1.60; P = .32; d = -0.14) or from pretreatment to follow-up (mean difference, -2.98, 95% CI, -5.99 to 0.03; P = .05; d = -0.19). Additional analyses showed that participants assigned to DCS were associated with lower symptom severity than those assigned to placebo at posttreatment and at follow-up. Antidepressants did not moderate the effects of DCS. None of the prespecified patient-level or study-level moderators was associated with outcomes. Conclusions and Relevance: D-cycloserine is associated with a small augmentation effect on exposure-based therapy. This effect is not moderated by the concurrent use of antidepressants. Further research is needed to identify patient and/or therapy characteristics associated with DCS response.2018-05-0

Virtual Reality for Obsessive-Compulsive Disorder: Past and the Future

The use of computers, especially for virtual reality (VR), to understand, assess, and treat various mental health problems has been developed for the last decade, including application for phobia, post-traumatic stress disorder, attention deficits, and schizophrenia. However, the number of VR tools addressing obsessive-compulsive disorder (OCD) is still lacking due to the heterogeneous symptoms of OCD and poor understanding of the relationship between VR and OCD. This article reviews the empirical literatures for VR tools in the future, which involve applications for both clinical work and experimental research in this area, including examining symptoms using VR according to OCD patients' individual symptoms, extending OCD research in the VR setting to also study behavioral and physiological correlations of the symptoms, and expanding the use of VR for OCD to cognitive-behavioral intervention