Corticosterone regulates multiple colour traits in Lacerta [Zootoca] vivipara males.
San-Jose, L M; Fitze, P S
2013-12-01
Ornamental colours usually evolve as honest signals of quality, which is supported by the fact that they frequently depend on individual condition. It has generally been suggested that some, but not all types of ornamental colours are condition dependent, indicating that different evolutionary mechanisms underlie the evolution of multiple types of ornamental colours even when these are exhibited by the same species. Stress hormones, which negatively affect condition, have been shown to affect colour traits based on different pigments and structures, suggesting that they mediate condition dependence of multiple ornament types both among and within individuals. However, studies investigating effects of stress hormones on different ornament types within individuals are lacking, and thus, evidence for this hypothesis is scant. Here, we investigated whether corticosterone mediates condition dependence of multiple ornaments by manipulating corticosterone levels and body condition (via food availability) using a two-factorial design and by assessing their effect on multiple colour traits in male common lizards. Corticosterone negatively affected ventral melanin- and carotenoid-based coloration, whereas food availability did not affect coloration, despite its significant effect on body condition. The corticosterone effect on melanin- and carotenoid-based coloration demonstrates the condition dependence of both ornaments. Moreover, corticosterone affected ventral coloration and had no effect on the nonsexually selected dorsal coloration, showing specific effects of corticosterone on ornamental ventral colours. This suggests that corticosterone simultaneously mediates condition dependence of multiple colour traits and that it therefore accounts for covariation among them, which may influence their evolution via correlational selection. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.
A multigenerational family with multiple sclerosis.
Dyment, D A; Cader, M Z; Willer, C J; Risch, N; Sadovnick, A D; Ebers, G C
2002-07-01
We report a family with 15 individuals affected with multiple sclerosis present in three and possibly four generations. The segregation of multiple sclerosis within this pedigree is consistent with an autosomal dominant mode of inheritance with reduced penetrance. The clinical characteristics of the affected individuals are indistinguishable from those seen in sporadic multiple sclerosis with respect to sex ratio, age at onset, onset symptom, MRI and clinical course. Eleven of 14 cases (78.6%) were positive for the known multiple sclerosis-associated major histocompatibility complex (MHC) Class II HLA DRB1*15 allele. Parametric linkage analysis gave a non-significant LOD score of 0.31 (theta; = 0.33) for the DRB1 gene. However, among 11 affected children with at least one DRB1*15 bearing parent, all 11 out of 11 received at least one copy of this known susceptibility allele. A transmission disequilibrium test analysis was significant for the DRB1*15 allele within this single family; P = 0.0054. The inheritance pattern in this family suggests the presence of a single major locus responsible for multiple sclerosis susceptibility, with DRB1 acting as an important modifier. This family could be an important resource for the identification of a multiple sclerosis susceptibility gene.
ERIC Educational Resources Information Center
Muller, Veronica; Brooks, Jessica; Tu, Wei-Mo; Moser, Erin; Lo, Chu-Ling; Chan, Fong
2015-01-01
Purpose: The main objective of this study was to determine the extent to which physical and cognitive-affective factors are associated with fibromyalgia (FM) fatigue. Method: A quantitative descriptive design using correlation techniques and multiple regression analysis. The participants consisted of 302 members of the National Fibromyalgia &…
Strickland, Karen; Worth, Allison; Kennedy, Catriona
2017-06-01
To explore the lived experience of the meaning of being diagnosed with multiple sclerosis on the individual's sense of self. The time leading up to and immediately following the diagnosis of multiple sclerosis has been identified as a time period shrouded by uncertainty and one where individuals have a heightened desire to seek accurate information and support. The diagnosis brings changes to the way one views the self which has consequences for biographical construction. A hermeneutic phenomenological study. In-depth qualitative interviews were conducted with 10 people recently diagnosed with multiple sclerosis. The data were analysed using interpretative phenomenological analysis. This study presents the three master themes: the 'road to diagnosis', 'the liminal self' and 'learning to live with multiple sclerosis'. The diagnosis of multiple sclerosis may be conceptualised as a 'threshold moment' where the individual's sense of self is disrupted from the former taken-for-granted way of being and propose a framework which articulates the transition. The findings highlight the need for healthcare professionals to develop interventions to better support people affected by a new diagnosis of multiple sclerosis. The conceptual framework which has been developed from the data and presented in this study provides a new way of understanding the impact of the diagnosis on the individual's sense of self when affected by a new diagnosis of multiple sclerosis. This framework can guide healthcare professionals in the provision of supportive care around the time of diagnosis. The findings provide practitioners with a new way of understanding the impact of the diagnosis on the individual's sense of self and a framework which can guide them in the provision of supportive care around the time of diagnosis. © 2016 John Wiley & Sons Ltd.
Reliability and Clinical Significance of Mobility and Balance Assessments in Multiple Sclerosis
ERIC Educational Resources Information Center
Learmonth, Yvonne C.; Paul, Lorna; McFadyen, Angus K.; Mattison, Paul; Miller, Linda
2012-01-01
The aim of the study was to establish the test-retest reliability, clinical significance and precision of four mobility and balance measures--the Timed 25-Foot Walk, Six-minute Walk, Timed Up and Go and the Berg Balance Scale--in individuals moderately affected by multiple sclerosis. Twenty four participants with multiple sclerosis (Extended…
Kasser, Susan L; Goldstein, Amanda; Wood, Phillip K; Sibold, Jeremy
2017-04-01
Individuals with multiple sclerosis (MS) experience a clinical course that is highly variable with daily fluctuations in symptoms significantly affecting functional ability and quality of life. Yet, understanding how MS symptoms co-vary and associate with physical and psychological health is unclear. The purpose of the study was to explore variability patterns and time-bound relationships across symptoms, affect, and physical activity in individuals with MS. The study employed a multivariate, replicated, single-subject repeated-measures (MRSRM) design and involved four individuals with MS. Mood, fatigue, pain, balance confidence, and losses of balance were measured daily over 28 days by self-report. Physical activity was also measured daily over this same time period via accelerometry. Dynamic factor analysis (DFA) was used to determine the dimensionality and lagged relationships across the variables. Person-specific models revealed considerable time-dependent co-variation patterns as well as pattern variation across subjects. Results also offered insight into distinct variability structures at varying levels of disability. Modeling person-level variability may be beneficial for addressing the heterogeneity of experiences in individuals with MS and for understanding temporal and dynamic interrelationships among perceived symptoms, affect, and health outcomes in this group. Copyright © 2016 Elsevier Inc. All rights reserved.
Predicting Prosociality among Urban Adolescents: Individual, Family, and Neighborhood Influences
ERIC Educational Resources Information Center
Drinkard, Allyson M.
2017-01-01
Prosociality, conceptualized as a willingness to help, to be fair, and to be friendly to others, is essential to the maintenance of a civil society and has been linked with multiple measures of individual well-being. This study examines how individual, family, and neighborhood factors affect adolescents' level of prosociality and tests for…
ERIC Educational Resources Information Center
McMakin, Dana L.; Burkhouse, Katie L.; Olino, Thomas M.; Siegle, Greg J.; Dahl, Ronald E.; Silk, Jennifer S.
2011-01-01
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,…
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
Prospectively-Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort
Pathak, Anand; Adams, Charleen D.; Loud, Jennifer T.; Nichols, Kathryn; Stewart, Douglas R.; Greene, Mark H.
2015-01-01
Background Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly-penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. Methods We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Results Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR=11.9; 95% confidence interval [CI]=5.1–23.4; excess absolute risk=7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR=13.4; 95%CI=1.6–48.6). Conclusions Our data are the first indicating that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Impact Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. PMID:26265202
Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.
Pathak, Anand; Adams, Charleen D; Loud, Jennifer T; Nichols, Kathryn; Stewart, Douglas R; Greene, Mark H
2015-10-01
Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR = 11.9; 95% CI, 5.1-23.4; excess absolute risk = 7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR = 13.4; 95% CI, 1.6-48.6). Our data are the first to indicate that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. ©2015 American Association for Cancer Research.
Traumatic Brain Injury Inpatient Rehabilitation
ERIC Educational Resources Information Center
Im, Brian; Schrer, Marcia J.; Gaeta, Raphael; Elias, Eileen
2010-01-01
Traumatic brain injuries (TBI) can cause multiple medical and functional problems. As the brain is involved in regulating nearly every bodily function, a TBI can affect any part of the body and aspect of cognitive, behavioral, and physical functioning. However, TBI affects each individual differently. Optimal management requires understanding the…
How Individual Differences Interact with Task Demands in Text Processing
ERIC Educational Resources Information Center
Wang, Zuowei; Sabatini, John; O'Reilly, Tenaha; Feng, Gary
2017-01-01
Reading is affected by both situational requirements and one's cognitive skills. The current study investigated how individual differences interacted with task requirements to determine reading behavior and outcome. We recorded the eye movements of college students, who differed in reading efficiency, while they completed a multiple-choice (MC)…
ERIC Educational Resources Information Center
Naeini, Ma'ssoumeh Bemani; Pandian, Ambigapathy
2010-01-01
Gardner's (1983) Multiple Intelligences Theory (MIT) has been found to have profound implications in teaching English as a foreign language (TEFL) in that it provides a way for teachers to recognize learners' individual cognitive and affective differences by providing favorable motivational conditions for learning. However, little investigation…
Whitworth, James; Smith, Philip S; Martin, Jose-Ezequiel; West, Hannah; Luchetti, Andrea; Rodger, Faye; Clark, Graeme; Carss, Keren; Stephens, Jonathan; Stirrups, Kathleen; Penkett, Chris; Mapeta, Rutendo; Ashford, Sofie; Megy, Karyn; Shakeel, Hassan; Ahmed, Munaza; Adlard, Julian; Barwell, Julian; Brewer, Carole; Casey, Ruth T; Armstrong, Ruth; Cole, Trevor; Evans, Dafydd Gareth; Fostira, Florentia; Greenhalgh, Lynn; Hanson, Helen; Henderson, Alex; Hoffman, Jonathan; Izatt, Louise; Kumar, Ajith; Kwong, Ava; Lalloo, Fiona; Ong, Kai Ren; Paterson, Joan; Park, Soo-Mi; Chen-Shtoyerman, Rakefet; Searle, Claire; Side, Lucy; Skytte, Anne-Bine; Snape, Katie; Woodward, Emma R; Tischkowitz, Marc D; Maher, Eamonn R
2018-06-12
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ 2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.
Dowling, Emily C; Chawla, Neetu; Forsythe, Laura P; de Moor, Janet; McNeel, Timothy; Rozjabek, Heather M; Ekwueme, Donatus U; Yabroff, K Robin
2013-09-15
Cancer survivors may experience long-term and late effects from treatment that adversely affect health and limit functioning. Few studies examine lost productivity and disease burden in cancer survivors compared with individuals who have other chronic conditions or by cancer type. We identified 4960 cancer survivors and 64,431 other individuals from the 2008-2010 Medical Expenditure Panel Survey and compared multiple measures of disease burden, including health status and lost productivity, between conditions and by cancer site for cancer survivors. All analyses controlled for the effects of age, sex, race/ethnicity, and number of comorbid conditions. Overall, in adjusted analyses in multiple models, cancer survivors with another chronic disease (heart disease or diabetes) experienced higher levels of burden compared with individuals with a history of cancer only, chronic disease only, and neither cancer, heart disease, nor diabetes across multiple measures (P < .05). Among cancer survivors, individuals with short survival cancers and multiple cancers consistently had the highest levels of burden across multiple measures (P < .0001). Cancer survivors who have another chronic disease experience more limitations and higher levels of burden across multiple measures. Limitations are particularly severe in cancer survivors with short survival cancer and multiple cancers. © 2013 American Cancer Society.
Dowling, Emily C.; Chawla, Neetu; Forsythe, Laura P.; de Moor, Janet; McNeel, Timothy; Rozjabek, Heather M.; Ekwueme, Donatus U.; Yabroff, K. Robin
2018-01-01
BACKGROUND Cancer survivors may experience long-term and late effects from treatment that adversely affect health and limit functioning. Few studies examine lost productivity and disease burden in cancer survivors compared with individuals who have other chronic conditions or by cancer type. METHODS We identified 4960 cancer survivors and 64,431 other individuals from the 2008–2010 Medical Expenditure Panel Survey and compared multiple measures of disease burden, including health status and lost productivity, between conditions and by cancer site for cancer survivors. All analyses controlled for the effects of age, sex, race/ethnicity, and number of comorbid conditions. RESULTS Overall, in adjusted analyses in multiple models, cancer survivors with another chronic disease (heart disease or diabetes) experienced higher levels of burden compared with individuals with a history of cancer only, chronic disease only, and neither cancer, heart disease, nor diabetes across multiple measures (P <.05). Among cancer survivors, individuals with short survival cancers and multiple cancers consistently had the highest levels of burden across multiple measures (P <.0001). CONCLUSIONS Cancer survivors who have another chronic disease experience more limitations and higher levels of burden across multiple measures. Limitations are particularly severe in cancer survivors with short survival cancer and multiple cancers. PMID:23794146
Kim, Jeong-Soo; Kang, Sun-Young; Jeon, Hye-Seon
2015-01-01
The body-weight-support treadmill (BWST) is commonly used for gait rehabilitation, but other forms of BWST are in development, such as visual-deprivation BWST (VDBWST). In this study, we compare the effect of VDBWST training and conventional BWST training on spatiotemporal gait parameters for three individuals who had hemiparetic strokes. We used a single-subject experimental design, alternating multiple baselines across the individuals. We recruited three individuals with hemiparesis from stroke; two on the left side and one on the right. For the main outcome measures we assessed spatiotemporal gait parameters using GAITRite, including: gait velocity; cadence; step time of the affected side (STA); step time of the non-affected side (STN); step length of the affected side (SLA); step length of the non-affected side (SLN); step-time asymmetry (ST-asymmetry); and step-length asymmetry (SL-asymmetry). Gait velocity, cadence, SLA, and SLN increased from baseline after both interventions, but STA, ST-asymmetry, and SL-asymmetry decreased from the baseline after the interventions. The VDBWST was significantly more effective than the BWST for increasing gait velocity and cadence and for decreasing ST-asymmetry. VDBWST is more effective than BWST for improving gait performance during the rehabilitation for ground walking.
Freedom poverty: a new tool to identify the multiple disadvantages affecting those with CVD.
Callander, Emily J; Schofield, Deborah J; Shrestha, Rupendra N
2013-06-20
It is recognised that CVD affects an individual's financial situation, placing them in income poverty. However, recent developments in poverty measurement practice recognises other forms of disadvantage other than low income, such as poor health and insufficient education also affect living standards. Using the Freedom Poverty Measure, the multiple forms of disadvantage experienced by those with no health condition, heart disease, other diseases of the circulatory system, and all other health conditions was assessed using data on the adult Australian population contained in the 2003 Survey of Disability, Ageing and Carers. 24% of those with heart disease and 23% of those with other diseases of the circulatory system were in freedom poverty, suffering from multiple forms of disadvantage. Those with heart disease and those with other diseases of the circulatory system were around three times more likely to be in freedom poverty (OR 3.02, 95% CI: 2.29-3.99, p<.0001; OR 2.78, 95% CI: 1.94-3.98, p<.0001) than those with no health condition. Recognising the multiple forms of disadvantage suffered by those with CVD provides a clearer picture of their living standards than just looking at their income alone and the high proportion of individuals with CVD that are suffering from multiple forms of disadvantage should make them a target for policy makers wishing to improve living standards. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
The Prediction of Achievement and Time Spent in Instruction in a Self-Paced Individualized Course.
ERIC Educational Resources Information Center
Franklin, Thomas E.
Multiple linear regressions were employed to determine the relative contributions of cognitive and affective variables accounting for variance in college students' achievement and amount of time taken to complete a self-paced, individualized course. Study habits and attitudes (SSHA) made greater relative contributions to explaining total course…
Strategies to reduce hyperthermia in ambulatory multiple sclerosis patients.
Edlich, Richard F; Buschbacher, Ralph M; Cox, Mary Jude; Long, William B; Winters, Kathryne L; Becker, Daniel G
2004-01-01
Approximately 400,000 Americans have multiple sclerosis. Worldwide, multiple sclerosis affects 2.5 million individuals. Multiple sclerosis affects two to three times as many women as men. The adverse effects of hyperthermia in patients with multiple sclerosis have been known since 1890. While most patients with multiple sclerosis experience reversible worsening of their neurologic deficits, some patients experience irreversible neurologic deficits. In fact, heat-induced fatalities have been encountered in multiple sclerosis patients subjected to hyperthermia. Hyperthermia can be caused through sun exposure, exercise, and infection. During the last 50 years, numerous strategies have evolved to reduce hyperthermia in individuals with multiple sclerosis, such as photoprotective clothing, sunglasses, sunscreens, hydrotherapy, and prevention of urinary tract infections. Hydrotherapy has become an essential component of rehabilitation for multiple sclerosis patients in hospitals throughout the world. On the basis of this positive hospital experience, hydrotherapy has been expanded through the use of compact aquatic exercise pools at home along with personal cooling devices that promote local and systemic hypothermia in multiple sclerosis patients. The Multiple Sclerosis Association of America and NASA have played leadership roles in developing and recommending technology that will prevent hyperthermia in multiple sclerosis patients and should be consulted for new technological advances that will benefit the multiple sclerosis patient. In addition, products recommended for photoprotection by The Skin Cancer Foundation may also be helpful to the multiple sclerosis patient's defense against hyperthermia. Infections in the urinary tract, especially detrusor-external sphincter dyssynergia, are initially managed conservatively with intermittent self-catheterization and pharmacologic therapy. In those cases, refractory to conservative therapy, transurethral external sphincterotomy followed by condom catheter drainage is recommended. However, if external urethral sphincterotomy fails to reduce residual urine and detrusor pressure, urinary diversion or bladder reconstruction may be necessary.
The Role of CLEAR Thinking in Learning Science from Multiple-Document Inquiry Tasks
ERIC Educational Resources Information Center
Griffin, Thomas D.; Wiley, Jennifer; Britt, M. Anne; Salas, Carlos R.
2012-01-01
The main goal for the current study was to investigate whether individual differences in domain-general thinking dispositions might affect learning from multiple-document inquiry tasks in science. Middle school students were given a set of documents and were tasked with understanding how and why recent patterns in global temperature might be…
Exercise and multiple sclerosis: physiological, psychological, and quality of life issues.
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.
Ionita-Laza, Iuliana; Ottman, Ruth
2011-11-01
The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected individuals. This framework allows us to quantify the enrichment in rare disease variants in families containing multiple affected individuals and to investigate the optimal design of studies aiming to identify rare disease variants in complex traits. We show that for many complex diseases with small values for the overall sibling recurrence risk ratio, such as Alzheimer's disease and most cancers, sequencing affected individuals with a positive family history of the disease can be extremely advantageous for identifying rare disease variants. In contrast, for complex diseases with large values of the sibling recurrence risk ratio, sequencing unselected affected individuals may be preferable.
Generic substitution of antiepileptic drugs.
Sander, Josemir W; Ryvlin, Philippe; Stefan, Hermann; Booth, Daniel R; Bauer, Jürgen
2010-12-01
Substitution of antiepileptic drugs with generic formulations may affect individual people, as well as healthcare systems. Analyses of large medical claims databases suggest that generic substitution of antiepileptic drugs is associated with increased morbidity and greater use of healthcare resources. While a single brand-to-generic switch may be associated with a slight increase in overall medical costs, multiple switches may be associated with higher costs, perhaps because different generic agents are not required to be bioequivalent to each other. Generic substitution also affects the individual: along with the possible increased risk of seizures or adverse events, inconsistency of supply may make the medication appear unfamiliar, thus discouraging adherence. Importantly, substitution is often carried out at the dispensing level, without the knowledge or consent of physicians and affected individuals. Therefore, regulatory and professional bodies advocate that substitution should not be carried out without specific counseling of the individual by healthcare professionals on the details and implications of the change.
Analyzing change in short-term longitudinal research using cohort-sequential designs.
Anderson, E R
1993-12-01
This article illustrates a method for approximating longitudinal data analysis by combining information from different overlapping age groups to form a single developmental growth curve. Using this method, hypotheses about the form of growth, the extent of individual differences in growth, and factors that affect the rate and pattern of growth are investigated. The example used to illustrate this method examines the growth of externalizing behavior and of negativity in parent-child relationships during early adolescence using assessments from multiple methods and multiple informants. These 3 dimensions changed significantly during this period, with parental negativity increasing more rapidly after age 12. However, there were substantial individual differences in the pattern of change in these dimensions. Gender of child and type of family situation (nondivorced, divorced, and remarried) were investigated as possible factors affecting change.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio, Emil; Woldegebriel, Rosa; Tumiati, Manuela; Isohanni, Pirjo; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Sawyer, Sarah L; Bell, Katrina M; Oshlack, Alicia; Lockhart, Paul J; Shcherbii, Mariia; Estrada-Cuzcano, Alejandro; Atkinson, Derek; Hartley, Taila; Tetreault, Martine; Cuppen, Inge; van der Pol, W Ludo; Candayan, Ayse; Battaloglu, Esra; Parman, Yesim; van Gassen, Koen L I; van den Boogaard, Marie-José H; Boycott, Kym M; Kauppi, Liisa; Jordanova, Albena; Lönnqvist, Tuula; Tyynismaa, Henna
2017-08-01
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function. Accordingly, fibroblasts of affected individuals from one family demonstrated severe depletion of GANP. GANP has been described to function as an mRNA export factor, and to suppress TDP-43-mediated motor neuron degeneration in flies. Thus our results suggest defective mRNA export from nucleus as a potential pathogenic mechanism of axonal degeneration in these patients. The identification of MCM3AP variants in affected individuals from multiple centres establishes it as a disease gene for childhood-onset recessively inherited Charcot-Marie-Tooth neuropathy with intellectual disability. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.
Schievink, Bauke; de Zeeuw, Dick; Parving, Hans-Henrik; Rossing, Peter; Lambers Heerspink, Hiddo Jan
2015-10-01
Angiotensin receptor blockers (ARBs) are renoprotective and targeted to blood pressure. However, ARBs have multiple other (off-target) effects which may affect renal outcome. It is unknown whether on-target and off-target effects are congruent within individuals. If not, this variation in short term effects may have important implications for the prediction of individual long term renal outcomes. Our aim was to assess intra-individual variability in multiple parameters in response to ARBs in type 2 diabetes. Changes in systolic blood pressure (SBP), albuminuria, potassium, haemoglobin, cholesterol and uric acid after 6 months of losartan treatment were assessed in the RENAAL database. Improvement in predictive performance of renal outcomes (ESRD or doubling serum creatinine) for each individual using ARB-induced changes in all risk markers was assessed by the relative integrative discrimination index (RIDI). SBP response showed high variability (mean -5.7 mmHg, 5(th) to 95(th) percentile -36.5 to +24.0 mmHg) between individuals. Changes in off-target parameters also showed high variability between individuals. No congruency was observed between responses to losartan in multiple parameters within individuals. Using individual responses in all risk markers significantly improved renal risk prediction (RIDI 30.4%, P < 0.01) compared with using only SBP changes. Results were successfully replicated in two independent trials with irbesartan, IDNT and IRMA-2. In this post hoc analysis we showed that ARBs have multiple off-target effects which vary between and within individuals. Combining all ARB-induced responses beyond SBP provides a more accurate prediction of who will benefit from ARB therapy. Prospective trials are required to validate these findings. © 2015 The British Pharmacological Society.
ERIC Educational Resources Information Center
Ten Brug, Annet; Munde, Vera S.; van der Putten, Annette A.J.; Vlaskamp, Carla
2015-01-01
Introduction: Multi-sensory storytelling (MSST) is a storytelling method designed for individuals with profound intellectual and multiple disabilities (PIMD). It is essential that listeners be alert during MSST, so that they become familiar with their personalised stories. Repetition and the presentation of stimuli are likely to affect the…
The meaning of spasticity to people with multiple sclerosis: what can health professionals learn?
Morley, Alex; Tod, Angela; Cramp, Mary; Mawson, Sue
2013-07-01
Multiple sclerosis (MS) is the most common disabling neurological condition affecting young adults. One third of people on an American registry of people with MS (PWMS) reported having activities affected by spasticity. The psychosocial effects of spasticity in people with MS have been shown to be distressing and detrimental to emotional and social relationships when investigated from a psychology perspective. This paper investigates the impact of spasticity on the lives of people living with MS from a physiotherapeutic perspective. This study involved 12 semi-structured interviews with individuals experiencing MS-related spasticity. Ten sets of data were analyzed following framework analysis principles. Results suggest spasticity effects life experience of these PWMS in diverse and complex ways. Physical, psychological and social consequences of spasticity are closely linked and can be far reaching. Therapists need to be aware of links between specific physical symptoms and their psychosocial consequences if they want to improve peoples' quality of life. This paper provides in depth qualitative research evidence for the complexity of the spasticity experience for each individual, strengthening the argument for a patient-centred approach to treatment. These results also support the case for targeted interventions with effectiveness recorded in a patient-centred way. • Spasticity is suggested here to affect the lives of individuals with multiple sclerosis in diverse and far reaching ways. Therapists need to investigate this fully in subjective assessment to impact on people's quality of life. • Direct links were identified between treatable physical symptoms and far reaching consequences of spasticity. • Knowledge about the complexity of the spasticity experience for each individual will allow therapists to target interventions appropriately and accurately record effectiveness in a patient-centred way.
Individual differences in the interoceptive states of hunger, fullness and thirst.
Stevenson, Richard J; Mahmut, Mehmet; Rooney, Kieron
2015-12-01
Interoception is the ability to perceive internal bodily states. This involves the detection and awareness of static and changing afferent signals from the viscera, motivational states, affective reactions, and associated cognitions. We examined whether there are individual differences in any or all of these aspects of ingestion-related interoception and their possible causes. Individual variation in almost all aspects of interoception was documented for hunger, fullness and thirst - including how participants use, prioritise and integrate visceral, motivational, affective and cognitive information. Individual differences may arise from multiple causes, including genetic influences, developmental changes hypothesised to result from child feeding practices, and from conditions such as depression, anxiety, eating disorders and certain subtypes of obesity. A nutritionally poor diet, and dietary restraint, may also affect ingestion-related interoception. Finally, certain forms of brain injury, notably to the medial temporal lobes are associated with impaired ingestion-related interoception. We conclude by examining the practical and theoretical consequences of these individual differences. Copyright © 2015 Elsevier Ltd. All rights reserved.
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.
Janes, Holly; Herbeck, Joshua T; Tovanabutra, Sodsai; Thomas, Rasmi; Frahm, Nicole; Duerr, Ann; Hural, John; Corey, Lawrence; Self, Steve G; Buchbinder, Susan P; McElrath, M Juliana; O'Connell, Robert J; Paris, Robert M; Rerks-Ngarm, Supachai; Nitayaphan, Sorachai; Pitisuttihum, Punnee; Kaewkungwal, Jaranit; Robb, Merlin L; Michael, Nelson L; Mullins, James I; Kim, Jerome H; Gilbert, Peter B; Rolland, Morgane
2015-10-01
Given the variation in the HIV-1 viral load (VL) set point across subjects, as opposed to a fairly stable VL over time within an infected individual, it is important to identify the characteristics of the host and virus that affect VL set point. Although recently infected individuals with multiple phylogenetically linked HIV-1 founder variants represent a minority of HIV-1 infections, we found--n two different cohorts--hat more diverse HIV-1 populations in early infection were associated with significantly higher VL 1 year after HIV-1 diagnosis.
Errard, Audrey; Ulrichs, Christian; Kühne, Stefan; Mewis, Inga; Drungowski, Mario; Schreiner, Monika; Baldermann, Susanne
2015-11-25
Tomato is susceptible to pest infestations by both spider mites and aphids. The effects of each individual pest on plants are known, whereas multiple-pest infestations have received little interest. We studied the effects of single- versus multiple-pest infestation by Tetranychus urticae and Myzus persicae on tomato biochemistry (Solanum lycopersicum) by combining a metabolomic approach and analyses of carotenoids using UHPLC-ToF-MS and volatiles using GC-MS. Plants responded differently to aphids and mites after 3 weeks of infestation, and a multiple infestation induced a specific metabolite composition in plants. In addition, we showed that volatiles emissions differed between the adaxial and abaxial leaf epidermes and identified compounds emitted particularly in response to a multiple infestation (cyclohexadecane, dodecane, aromadendrene, and β-elemene). Finally, the carotenoid concentrations in leaves and stems were more affected by multiple than single infestations. Our study highlights and discusses the interplay of biotic stressors within the terpenoid metabolism.
Multiple Chronic Conditions and Labor Force Outcomes: A Population Study of U.S. Adults
Ward, Brian W.
2015-01-01
Background Although 1-in-5 adults have multiple (≥2) chronic conditions, limited attention has been given to the association between multiple chronic conditions and employment. Methods Cross-sectional data (2011 National Health Interview Survey) and multivariate regression analyses were used to examine the association among multiple chronic conditions, employment, and labor force outcomes for U.S. adults aged 18–64 years, controlling for covariates. Results Among U.S. adults aged 18–64 years (unweighted n=25,458), having multiple chronic conditions reduced employment probability by 11%–29%. Some individual chronic conditions decreased employment probability. Among employed adults (unweighted n=16,096), having multiple chronic conditions increased the average number of work days missed due to injury/illness in the past year by 3–9 days. Conclusions Multiple chronic conditions are be a barrier to employment and increase the number of work days missed, placing affected individuals at a financial disadvantage. Researchers interested in examining consequences of multiple chronic conditions should give consideration to labor force outcomes. PMID:26103096
Zhang, Wenhai; Lu, Jiamei; Ni, Ziyin; Liu, Xia; Wang, Dahua; Shen, Jiliang
2013-08-01
Research in adults has shown that individual differences in harm avoidance (HA) modulate electrophysiological responses to affective stimuli. To determine whether HA in adolescents modulates affective information processing, we collected event-related potentials from 70 adolescents while they viewed 90 pictures from the Chinese affective picture system. Multiple regressions revealed that HA negatively predicted late positive potential (LPP) for positive pictures and positively predicted for negative pictures; however, HA did not correlate with LPP for neutral pictures. The results suggest that at the late evaluative stage, high-HA adolescents display attentional bias to negative pictures while low-HA adolescents display attentional bias to negative pictures. Moreover, these dissociable attentional patterns imply that individual differences in adolescents' HA modulate the late selective attention mechanism of affective information. Copyright © 2013. Published by Elsevier Ltd.
Bodea, Corneliu A; Middleton, Frank A; Melhem, Nadine M; Klei, Lambertus; Song, Youeun; Tiobech, Josepha; Marumoto, Pearl; Yano, Victor; Faraone, Stephen V; Roeder, Kathryn; Myles-Worsley, Marina; Devlin, Bernie; Byerley, William
2017-02-01
To localize genetic variation affecting risk for psychotic disorders in the population of Palau, we genotyped DNA samples from 203 Palauan individuals diagnosed with psychotic disorders, broadly defined, and 125 control subjects using a genome-wide single nucleotide polymorphism array. Palau has unique features advantageous for this study: due to its population history, Palauans are substantially interrelated; affected individuals often, but not always, cluster in families; and we have essentially complete ascertainment of affected individuals. To localize risk variants to genomic regions, we evaluated long-shared haplotypes, ≥10 Mb, identifying clusters of affected individuals who share such haplotypes. This extensive sharing, typically identical by descent, was significantly greater in cases than population controls, even after controlling for relatedness. Several regions of the genome exhibited substantial excess of shared haplotypes for affected individuals, including 3p21, 3p12, 4q28, and 5q23-q31. Two of these regions, 4q28 and 5q23-q31, showed significant linkage by traditional LOD score analysis and could harbor variants of more sizeable risk for psychosis or a multiplicity of risk variants. The pattern of haplotype sharing in 4q28 highlights PCDH10 , encoding a cadherin-related neuronal receptor, as possibly involved in risk.
Community shifts under climate change: mechanisms at multiple scales.
Gornish, Elise S; Tylianakis, Jason M
2013-07-01
Processes that drive ecological dynamics differ across spatial scales. Therefore, the pathways through which plant communities and plant-insect relationships respond to changing environmental conditions are also expected to be scale-dependent. Furthermore, the processes that affect individual species or interactions at single sites may differ from those affecting communities across multiple sites. We reviewed and synthesized peer-reviewed literature to identify patterns in biotic or abiotic pathways underpinning changes in the composition and diversity of plant communities under three components of climate change (increasing temperature, CO2, and changes in precipitation) and how these differ across spatial scales. We also explored how these changes to plants affect plant-insect interactions. The relative frequency of biotic vs. abiotic pathways of climate effects at larger spatial scales often differ from those at smaller scales. Local-scale studies show variable responses to climate drivers, often driven by biotic factors. However, larger scale studies identify changes to species composition and/or reduced diversity as a result of abiotic factors. Differing pathways of climate effects can result from different responses of multiple species, habitat effects, and differing effects of invasions at local vs. regional to global scales. Plant community changes can affect higher trophic levels as a result of spatial or phenological mismatch, foliar quality changes, and plant abundance changes, though studies on plant-insect interactions at larger scales are rare. Climate-induced changes to plant communities will have considerable effects on community-scale trophic exchanges, which may differ from the responses of individual species or pairwise interactions.
Boone, M.D.; Bridges, C.M.
2003-01-01
The majority of studies on pesticide impacts have evaluated the effects of single exposures. However, multiple exposures to a pesticide may be more prevalent. The objective of our study was to determine how multiple exposures versus single exposure at different times during development affected survival to metamorphosis, tadpole survival, tadpole mass, and tadpole developmental stage of green frog (Rana clamitans) tadpoles reared at low and high density in outdoor cattle tank ponds. Tadpoles were exposed to carbaryl zero, one, two, or three times at 14-d intervals. We applied single doses of carbaryl at one of three times, specifically during early, mid, or late development. Overall, we found that multiple exposures had a greater impact than single exposures during development. More individuals reached metamorphosis in ponds exposed to multiple doses of carbaryl compared with controls, indicating that the presence of carbaryl stimulated metamorphosis. The presence of carbaryl in the aquatic environment also resulted in more developed tadpoles compared with controls. Tadpoles in control ponds did not reach metamorphosis and were less developed than individuals exposed to carbaryl; this effect indicates that, under ideal conditions, green frogs could overwinter in ponds so that greater size could be attained before metamorphosis in the following spring or summer. Our study demonstrated the importance of including realistic application procedures when evaluating the effects of a pesticide and that multiple exposures to a short-lived pesticide are more likely to affect an amphibian population.
Family history as a predictor of hospitalization for hypertension in Sweden.
Westerdahl, Christina; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina; Zöller, Bengt
2013-10-01
Hypertension clusters in families. However, no nationwide study has investigated the family history as a predictor of hospitalization for hypertension, which was the purpose of this study. The study is a nationwide follow-up study. Swedish Multigeneration Register data for individuals aged 0-76 years were linked to Hospital Discharge Register data for 1964-2008. Standardized incidence ratios (SIRs) were calculated for individuals whose relatives were hospitalized with a main diagnosis of hypertension compared with those whose relatives were not. The total number of patients hospitalized with hypertension was 37,686. The familial SIR was 2.18 for individuals with one affected sibling, 44.83 for individuals with two affected siblings and 57.18 for individuals with three or more affected siblings. The SIR was 1.95 for parents with one affected child, 3.73 for parents with two affected children and 9.22 for parents with three or more affected children. The familial SIR among offspring was 1.84 for those with one affected parent and 3.62 for those with two affected parents. The familial risk for hospitalization with hypertension among offspring aged less than 30 years was 2.50 and 1.57 in those aged more than 60 years. Familial risks were similar for men and women. Spouses had low overall familial risks (SIR=1.2). Hospitalization for hypertension clusters in families. Very high risks were observed in families with multiple affected siblings, though the parent-offspring transmission was lower, suggesting the segregation of recessive or interacting susceptibility genes. The low familial risk in spouses suggests a minor nongenetic contribution.
Multiple Phenotype Association Tests Using Summary Statistics in Genome-Wide Association Studies
Liu, Zhonghua; Lin, Xihong
2017-01-01
Summary We study in this paper jointly testing the associations of a genetic variant with correlated multiple phenotypes using the summary statistics of individual phenotype analysis from Genome-Wide Association Studies (GWASs). We estimated the between-phenotype correlation matrix using the summary statistics of individual phenotype GWAS analyses, and developed genetic association tests for multiple phenotypes by accounting for between-phenotype correlation without the need to access individual-level data. Since genetic variants often affect multiple phenotypes differently across the genome and the between-phenotype correlation can be arbitrary, we proposed robust and powerful multiple phenotype testing procedures by jointly testing a common mean and a variance component in linear mixed models for summary statistics. We computed the p-values of the proposed tests analytically. This computational advantage makes our methods practically appealing in large-scale GWASs. We performed simulation studies to show that the proposed tests maintained correct type I error rates, and to compare their powers in various settings with the existing methods. We applied the proposed tests to a GWAS Global Lipids Genetics Consortium summary statistics data set and identified additional genetic variants that were missed by the original single-trait analysis. PMID:28653391
Multiple phenotype association tests using summary statistics in genome-wide association studies.
Liu, Zhonghua; Lin, Xihong
2018-03-01
We study in this article jointly testing the associations of a genetic variant with correlated multiple phenotypes using the summary statistics of individual phenotype analysis from Genome-Wide Association Studies (GWASs). We estimated the between-phenotype correlation matrix using the summary statistics of individual phenotype GWAS analyses, and developed genetic association tests for multiple phenotypes by accounting for between-phenotype correlation without the need to access individual-level data. Since genetic variants often affect multiple phenotypes differently across the genome and the between-phenotype correlation can be arbitrary, we proposed robust and powerful multiple phenotype testing procedures by jointly testing a common mean and a variance component in linear mixed models for summary statistics. We computed the p-values of the proposed tests analytically. This computational advantage makes our methods practically appealing in large-scale GWASs. We performed simulation studies to show that the proposed tests maintained correct type I error rates, and to compare their powers in various settings with the existing methods. We applied the proposed tests to a GWAS Global Lipids Genetics Consortium summary statistics data set and identified additional genetic variants that were missed by the original single-trait analysis. © 2017, The International Biometric Society.
Lam, Cho Y; Businelle, Michael S; Aigner, Carrie J; McClure, Jennifer B; Cofta-Woerpel, Ludmila; Cinciripini, Paul M; Wetter, David W
2014-05-01
Negative affect, alcohol consumption, and presence of others smoking have consistently been implicated as risk factors for smoking lapse and relapse. What is not known, however, is how these factors work together to affect smoking outcomes. This paper uses ecological momentary assessment (EMA) collected during the first 7 days of a smoking cessation attempt to test the individual and combined effects of high-risk triggers on smoking urge and lapse. Participants were 300 female smokers who enrolled in a study that tested an individually tailored smoking cessation treatment. Participants completed EMA, which recorded negative affect, alcohol consumption, presence of others smoking, smoking urge, and smoking lapse, for 7 days starting on their quit date. Alcohol consumption, presence of others smoking, and negative affect were, independently and in combination, associated with increase in smoking urge and lapse. The results also found that the relationship between presence of others smoking and lapse and the relationship between negative affect and lapse were moderated by smoking urge. The current study found significant individual effects of alcohol consumption, presence of other smoking, and negative affect on smoking urge and lapse. Combing the triggers increased smoking urge and the risk for lapse to varying degrees, and the presence of all 3 triggers resulted in the highest urge and lapse risk.
Medical Surveillance Monthly Report (MSMR). Volume 4, Number 2, February/March 1998
1998-03-01
comment: Leprosy is a chronic disease, caused by Mycobacterium leprae , that affects the skin and peripheral nerves of human hosts. Individuals with...untreated infections shed M. leprae in high concentrations in their nasal secretions; however, transmission from infected to uninfected persons generally...Individuals infected with M. leprae quickly become noninfectious after initiating multiple drug therapy (MDT). Thus, aggressive case finding linked to MDT
Waubert de Puiseau, Berenike; Greving, Sven; Aßfalg, André; Musch, Jochen
2017-09-01
Aggregating information across multiple testimonies may improve crime reconstructions. However, different aggregation methods are available, and research on which method is best suited for aggregating multiple observations is lacking. Furthermore, little is known about how variance in the accuracy of individual testimonies impacts the performance of competing aggregation procedures. We investigated the superiority of aggregation-based crime reconstructions involving multiple individual testimonies and whether this superiority varied as a function of the number of witnesses and the degree of heterogeneity in witnesses' ability to accurately report their observations. Moreover, we examined whether heterogeneity in competence levels differentially affected the relative accuracy of two aggregation procedures: a simple majority rule, which ignores individual differences, and the more complex general Condorcet model (Romney et al., Am Anthropol 88(2):313-338, 1986; Batchelder and Romney, Psychometrika 53(1):71-92, 1988), which takes into account differences in competence between individuals. 121 participants viewed a simulated crime and subsequently answered 128 true/false questions about the crime. We experimentally generated groups of witnesses with homogeneous or heterogeneous competences. Both the majority rule and the general Condorcet model provided more accurate reconstructions of the observed crime than individual testimonies. The superiority of aggregated crime reconstructions involving multiple individual testimonies increased with an increasing number of witnesses. Crime reconstructions were most accurate when competences were heterogeneous and aggregation was based on the general Condorcet model. We argue that a formal aggregation should be considered more often when eyewitness testimonies have to be assessed and that the general Condorcet model provides a good framework for such aggregations.
Sturgeon, John A; Zautra, Alex J; Arewasikporn, Anne
2014-02-01
The processes of individual adaptation to chronic pain are complex and occur across multiple domains. We examined the social, cognitive, and affective context of daily pain adaptation in individuals with fibromyalgia and osteoarthritis. By using a sample of 260 women with fibromyalgia or osteoarthritis, we examined the contributions of pain catastrophizing, negative interpersonal events, and positive interpersonal events to daily negative and positive affect across 30days of daily diary data. Individual differences and daily fluctuations in predictor variables were estimated simultaneously by utilizing multilevel structural equation modeling techniques. The relationships between pain and negative and positive affect were mediated by stable and day-to-day levels of pain catastrophizing as well as day-to-day positive interpersonal events, but not negative interpersonal events. There were significant and independent contributions of pain catastrophizing and positive interpersonal events to adaptation to pain and pain-related affective dysregulation. These effects occur both between persons and within a person's everyday life. Copyright © 2013 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.
Price, Rebecca B; Lane, Stephanie; Gates, Kathleen; Kraynak, Thomas E; Horner, Michelle S; Thase, Michael E; Siegle, Greg J
2017-02-15
There is well-known heterogeneity in affective mechanisms in depression that may extend to positive affect. We used data-driven parsing of neural connectivity to reveal subgroups present across depressed and healthy individuals during positive processing, informing targets for mechanistic intervention. Ninety-two individuals (68 depressed patients, 24 never-depressed control subjects) completed a sustained positive mood induction during functional magnetic resonance imaging. Directed functional connectivity paths within a depression-relevant network were characterized using Group Iterative Multiple Model Estimation (GIMME), a method shown to accurately recover the direction and presence of connectivity paths in individual participants. During model selection, individuals were clustered using community detection on neural connectivity estimates. Subgroups were externally tested across multiple levels of analysis. Two connectivity-based subgroups emerged: subgroup A, characterized by weaker connectivity overall, and subgroup B, exhibiting hyperconnectivity (relative to subgroup A), particularly among ventral affective regions. Subgroup predicted diagnostic status (subgroup B contained 81% of patients; 50% of control subjects; χ 2 = 8.6, p = .003) and default mode network connectivity during a separate resting-state task. Among patients, subgroup B members had higher self-reported symptoms, lower sustained positive mood during the induction, and higher negative bias on a reaction-time task. Symptom-based depression subgroups did not predict these external variables. Neural connectivity-based categorization travels with diagnostic category and is clinically predictive, but not clinically deterministic. Both patients and control subjects showed heterogeneous, and overlapping, profiles. The larger and more severely affected patient subgroup was characterized by ventrally driven hyperconnectivity during positive processing. Data-driven parsing suggests heterogeneous substrates of depression and possible resilience in control subjects in spite of biological overlap. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
Intersections: Feminisms/Early Childhoods. Rethinking Childhood, Volume 3.
ERIC Educational Resources Information Center
Hauser, Mary E., Ed.; Jipson, Janice A., Ed.
Through personal narrative and scholarly reflection, this book examines the foundations of early childhood education, contemporary curricular and pedagogical practice in early childhood education, and critical issues affecting the multiple worlds of childhood. Essays by individual contributors are linked by contributors' conversations. An…
Mercury bioaccumulation assessment for the St. Louis River Area of Concern (poster)
Elevated mercury concentrations have been documented in fish and invertebrates within the St. Louis River Area of Concern (AOC). Mercury bioavailability is affected by multiple factors, including mercury sources, sediment and water geochemistry, food web structure, individual fis...
Oh, Hyunjin; Uhm, Dong Choon; Yoon, Young Joo
2016-04-01
Workplace bullying and lateral violence are serious issues affecting the work life of hospital nurses. The purpose of this study was to identify the selected individual and institutional characteristics for workplace bullying and lateral violence using a conceptual framework. A descriptive survey design was used. A convenience sample of 255 nurses in tertiary hospitals, who had a minimum of 6 months clinical experience, completed the survey. Regression analysis was used to determine factors significantly associated with workplace bullying and lateral violence. The Negative Acts Questionnaire-Revised and the Lateral Violence scale were used to measure workplace bullying and lateral violence. A negative affect, individualism and working in hospital specialty units predicted workplace bullying. Individualism, a negative affect, affiliated hospital and working hours predicted verbal abuse whereas the place of employment was significantly associated with lateral violence. The results of this study identified factors that are associated with bullying and violence but did not fully support the conceptual framework. The individual characteristic negative affect was significantly associated with most types of workplace bullying and lateral violence bully whereas the place of employment was an important factor in lateral violence. Nurse managers need to be aware that both individual and institutional factors may impact levels of workplace bullying and lateral violence in their hospitals and need to prepare specific strategies to address these multiple factors. © 2015 John Wiley & Sons Ltd.
Ansell, Nicola
2014-01-01
Critics of empowerment have highlighted the concept's mutability, focus on individual transformation, one-dimensionality and challenges of operationalisation. Relating these critiques to children's empowerment raises new challenges. Drawing on scholarship on children's subjecthood and exercise of power, alongside empirical research with children affected by AIDS, I argue that empowerment envisaged as individual self-transformation and increased capacity to act independently offers little basis for progressive change. Rather it is essential to adopt a relational approach that recognises the need to transform power relationships at multiple levels. This analysis has implications for our wider understanding of empowerment in the 21st century.
Cannabis use by individuals with multiple sclerosis: effects on specific immune parameters.
Sexton, Michelle; Cudaback, Eiron; Abdullah, Rehab A; Finnell, John; Mischley, Laurie K; Rozga, Mary; Lichtman, Aron H; Stella, Nephi
2014-10-01
Cannabinoids affect immune responses in ways that may be beneficial for autoimmune diseases. We sought to determine whether chronic Cannabis use differentially modulates a select number of immune parameters in healthy controls and individuals with multiple sclerosis (MS cases). Subjects were enrolled and consented to a single blood draw, matched for age and BMI. We measured monocyte migration isolated from each subject, as well as plasma levels of endocannabinoids and cytokines. Cases met definition of MS by international diagnostic criteria. Monocyte cell migration measured in control subjects and individuals with MS was similarly inhibited by a set ratio of phytocannabinoids. The plasma levels of CCL2 and IL17 were reduced in non-naïve cannabis users irrespective of the cohorts. We detected a significant increase in the endocannabinoid arachidonoylethanolamine (AEA) in serum from individuals with MS compared to control subjects, and no significant difference in levels of other endocannabinoids and signaling lipids irrespective of Cannabis use. Chronic Cannabis use may affect the immune response to similar extent in individuals with MS and control subjects through the ability of phytocannabinoids to reduce both monocyte migration and cytokine levels in serum. From a panel of signaling lipids, only the levels of AEA are increased in individuals with MS, irrespective of Cannabis use or not. Our results suggest that both MS cases and controls respond similarly to chronic Cannabis use with respect to the immune parameters measured in this study.
CANNABIS USE BY INDIVIDUALS WITH MULTIPLE SCLEROSIS: EFFECTS ON SPECIFIC IMMUNE PARAMETERS
Sexton, Michelle; Cudaback, Eiron; Abdullah, Rehab A.; Finnell, John; Mischley, Laurie K; Rozga, Mary; Lichtman, Aron H.; Stella, Nephi
2014-01-01
Cannabinoids affect immune responses in ways that may be beneficial for autoimmune diseases. We sought to determine whether chronic Cannabis use differentially modulates a select number of immune parameters in healthy controls and individuals with multiple sclerosis (MS cases). Subjects were enrolled and consented to a single blood draw, matched for age and BMI. We measured monocyte migration isolated from each subject, as well as plasma levels of endocannabinoids and cytokines. Cases met definition of MS by international diagnostic criteria. Monocyte cell migration measured in control subjects and individuals with MS were similarly inhibited by a set ratio of phytocannabinoids. The plasma levels of CCL2 and IL17 were reduced in non-naïve cannabis users irrespective of the cohorts. We detected a significant increase in the endocannabinoid arachidonoylethanolamine (AEA) in serum from individuals with MS compared to control subjects, and no significant difference in levels of other endocannabinoids and signaling lipids irrespective of Cannabis use. Chronic Cannabis use may affect the immune response to similar extent in individuals with MS and control subjects through the ability of phytocannabinoids to reduce both monocyte migration and cytokine levels in serum. From a panel of signaling lipids, only the levels of AEA are increased in individuals with MS, irrespective from Cannabis use or not. Our results suggest that both MS cases and controls respond similarly to chronic Cannabis use with respect to the immune parameters measured in this study. PMID:25135301
Farris, Samantha G; Zvolensky, Michael J; Beckham, Jean C; Vujanovic, Anka A; Schmidt, Norman B
2014-01-01
Cognitive-affective mechanisms related to the maintenance of smoking among trauma-exposed individuals are largely unknown. Cross-sectional data from trauma-exposed treatment-seeking smokers (n = 283) were utilized to test a series of multiple mediator models of trauma exposure and smoking, as mediated by the sequential effects of negative affect and affect-modulation smoking motives. The sequential effects of both mediators indirectly predicted the effect of greater trauma exposure types on nicotine dependence, a biochemical index of smoking, perceived barriers to smoking cessation, and greater withdrawal-related problems during past quit attempts. Negative affect and affect-modulation motives for smoking may contribute to the trauma-smoking association.
Farris, Samantha G.; Zvolensky, Michael J.; Beckham, Jean C.; Vujanovic, Anka A.; Schmidt, Norman B.
2014-01-01
Cognitive-affective mechanisms related to the maintenance of smoking among trauma-exposed individuals are largely unknown. Cross-sectional data from trauma-exposed treatment-seeking smokers (n = 283) were utilized to test a series of multiple mediator models of trauma exposure and smoking, as mediated by the sequential effects of negative affect and affect-modulation smoking motives. The sequential effects of both mediators indirectly predicted the effect of greater trauma exposure types on nicotine dependence, a biochemical index of smoking, perceived barriers to smoking cessation, and greater withdrawal-related problems during past quit attempts. Negative affect and affect-modulation motives for smoking may contribute to the trauma-smoking association. PMID:25299617
Interactive Influences on Health and Adult Education
ERIC Educational Resources Information Center
Hill, Lilian H.
2016-01-01
This chapter examines multiple convergent forces affecting health, relates these to social determinants of health and critical adult health learning, and closes with discussion of opportunities for adult educators to contribute to human health at the individual, community, health provider, policy/regulatory agency, and international levels.
76 FR 31016 - Proposed Collection; Comment Request for Regulation Project
Federal Register 2010, 2011, 2012, 2013, 2014
2011-05-27
... Fiduciary Relationship; Form 2120, Multiple Support Declaration; Form 2439, Notice to Shareholder of... document contains regulations designed to eliminate regulatory impediments to the electronic filing of Form 1040, U.S. Individual Income Tax Return. These regulations generally affect taxpayers who file Form...
Human health is affected by simultaneous exposure to stressors and amenities, but research typically considers single exposures. In order to account for multiple ambient environmental conditions, we constructed an Environmental Quality Index (EQI) using principle components analy...
Kato, Masaki; Yokoyama, Chihiro; Kawasaki, Akihiro; Takeda, Chiho; Koike, Taku; Onoe, Hirotaka; Iriki, Atsushi
2018-05-01
As with humans, vocal communication is an important social tool for nonhuman primates. Common marmosets (Callithrix jacchus) often produce whistle-like 'phee' calls when they are visually separated from conspecifics. The neural processes specific to phee call perception, however, are largely unknown, despite the possibility that these processes involve social information. Here, we examined behavioral and whole-brain mapping evidence regarding the detection of individual conspecific phee calls using an audio playback procedure. Phee calls evoked sound exploratory responses when the caller changed, indicating that marmosets can discriminate between caller identities. Positron emission tomography with [ 18 F] fluorodeoxyglucose revealed that perception of phee calls from a single subject was associated with activity in the dorsolateral prefrontal, medial prefrontal, orbitofrontal cortices, and the amygdala. These findings suggest that these regions are implicated in cognitive and affective processing of salient social information. However, phee calls from multiple subjects induced brain activation in only some of these regions, such as the dorsolateral prefrontal cortex. We also found distinctive brain deactivation and functional connectivity associated with phee call perception depending on the caller change. According to changes in pupillary size, phee calls from a single subject induced a higher arousal level compared with those from multiple subjects. These results suggest that marmoset phee calls convey information about individual identity and affective valence depending on the consistency or variability of the caller. Based on the flexible perception of the call based on individual recognition, humans and marmosets may share some neural mechanisms underlying conspecific vocal perception.
Evaluating local indirect addressing in SIMD proc essors
NASA Technical Reports Server (NTRS)
Middleton, David; Tomboulian, Sherryl
1989-01-01
In the design of parallel computers, there exists a tradeoff between the number and power of individual processors. The single instruction stream, multiple data stream (SIMD) model of parallel computers lies at one extreme of the resulting spectrum. The available hardware resources are devoted to creating the largest possible number of processors, and consequently each individual processor must use the fewest possible resources. Disagreement exists as to whether SIMD processors should be able to generate addresses individually into their local data memory, or all processors should access the same address. The tradeoff is examined between the increased capability and the reduced number of processors that occurs in this single instruction stream, multiple, locally addressed, data (SIMLAD) model. Factors are assembled that affect this design choice, and the SIMLAD model is compared with the bare SIMD and the MIMD models.
Özkan Tuncay, Fatma; Mollaoğlu, Mukadder
2017-12-01
To determine the effects of cooling suit on fatigue and activities of daily living of individuals with multiple sclerosis. Fatigue is one of the most common symptoms in people with multiple sclerosis and adversely affects their activities of daily living. Studies evaluating fatigue associated with multiple sclerosis have reported that most of the fatigue cases are related to the increase in body temperature and that cooling therapy is effective in coping with fatigue. This study used a two sample, control group design. The study sample comprised 75 individuals who met the inclusion criteria. Data were collected with study forms. After the study data were collected, cooling suit treatment was administered to the experimental group. During home visits paid at the fourth and eighth weeks after the intervention, the aforementioned scales were re-administered to the participants in the experimental and control groups. The analyses performed demonstrated that the severity levels of fatigue experienced by the participants in the experimental group wearing cooling suit decreased. The experimental group also exhibited a significant improvement in the participants' levels of independence in activities of daily living. The cooling suit worn by individuals with multiple sclerosis was determined to significantly improve the participants' levels of fatigue and independence in activities of daily living. The cooling suit therapy was found to be an effective intervention for the debilitating fatigue suffered by many multiple sclerosis patients, thus significantly improving their level of independence in activities of daily living. © 2017 John Wiley & Sons Ltd.
Christensen, Tyler; Brown, William D
2018-04-14
Models of the evolution of sexual cannibalism show that the frequency of male mating opportunities has significant impact on male choice and male risk aversion. In this study, we examined ecological components that should affect opportunities for multiple mating in wild populations of the Chinese mantid (Tenodera sinensis Saussure). While conducting mark-recapture studies of two field populations over the course of two seasons, along with Global Positioning System data on locations of individuals, we collected data on population densities, movement patterns, and individual ranges to estimate the overlap of adult males and female mantids. Our results show that local populations of mantids range from 89 to 161 individuals and occur at densities ranging from 10 to 39 mantids per 1,000 m2. Males move greater distances daily compared with females, giving males larger home range sizes. The ranges of male mantids overlapped with multiple females, thus offering the potential for multiple mating by males. We directly observed 11 encounters between male and female T. sinensis, including one multiple mating by an individual male. The overall mate encounter rate for males was 12.5%. We also provide additional observations of interspecific sexual attraction between T. sinensis and Mantis religiosa Linne (Mantodea: Mantidae). Mantids were most commonly found within the top 20% of two flowering plants, goldenrod (Solidago Linnaeus spp. (Asterales: Asteraceae)) and mugwort (Artemisia vulgaris Linnaeus (Asterales: Asteraceae)), which should place them in prime locations for capturing flying pollinators.
Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy.
Simpson, Siobhan; Dunning, Mark D; Brownlie, Serena; Patel, Janika; Godden, Megan; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S
2016-01-01
Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.
Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy
Dunning, Mark D.; Brownlie, Serena
2016-01-01
Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH. PMID:28070514
Tracking employment shocks using mobile phone data
Toole, Jameson L.; Lin, Yu-Ru; Muehlegger, Erich; Shoag, Daniel; González, Marta C.; Lazer, David
2015-01-01
Can data from mobile phones be used to observe economic shocks and their consequences at multiple scales? Here we present novel methods to detect mass layoffs, identify individuals affected by them and predict changes in aggregate unemployment rates using call detail records (CDRs) from mobile phones. Using the closure of a large manufacturing plant as a case study, we first describe a structural break model to correctly detect the date of a mass layoff and estimate its size. We then use a Bayesian classification model to identify affected individuals by observing changes in calling behaviour following the plant's closure. For these affected individuals, we observe significant declines in social behaviour and mobility following job loss. Using the features identified at the micro level, we show that the same changes in these calling behaviours, aggregated at the regional level, can improve forecasts of macro unemployment rates. These methods and results highlight promise of new data resources to measure microeconomic behaviour and improve estimates of critical economic indicators. PMID:26018965
A mixed methods study of multiple health behaviors among individuals with stroke.
Plow, Matthew; Moore, Shirley M; Sajatovic, Martha; Katzan, Irene
2017-01-01
Individuals with stroke often have multiple cardiovascular risk factors that necessitate promoting engagement in multiple health behaviors. However, observational studies of individuals with stroke have typically focused on promoting a single health behavior. Thus, there is a poor understanding of linkages between healthy behaviors and the circumstances in which factors, such as stroke impairments, may influence a single or multiple health behaviors. We conducted a mixed methods convergent parallel study of 25 individuals with stroke to examine the relationships between stroke impairments and physical activity, sleep, and nutrition. Our goal was to gain further insight into possible strategies to promote multiple health behaviors among individuals with stroke. This study focused on physical activity, sleep, and nutrition because of their importance in achieving energy balance, maintaining a healthy weight, and reducing cardiovascular risks. Qualitative and quantitative data were collected concurrently, with the former being prioritized over the latter. Qualitative data was prioritized in order to develop a conceptual model of engagement in multiple health behaviors among individuals with stroke. Qualitative and quantitative data were analyzed independently and then were integrated during the inference stage to develop meta-inferences. The 25 individuals with stroke completed closed-ended questionnaires on healthy behaviors and physical function. They also participated in face-to-face focus groups and one-to-one phone interviews. We found statistically significant and moderate correlations between hand function and healthy eating habits ( r = 0.45), sleep disturbances and limitations in activities of daily living ( r = - 0.55), BMI and limitations in activities of daily living ( r = - 0.49), physical activity and limitations in activities of daily living ( r = 0.41), mobility impairments and BMI ( r = - 0.41), sleep disturbances and physical activity ( r = - 0.48), sleep disturbances and BMI ( r = 0.48), and physical activity and BMI ( r = - 0.45). We identified five qualitative themes: (1) Impairments: reduced autonomy, (2) Environmental forces: caregivers and information, (3) Re-evaluation: priorities and attributions, (4) Resiliency: finding motivation and solutions, and (5) Negative affectivity: stress and self-consciousness. Three meta-inferences and a conceptual model described circumstances in which factors could influence single or multiple health behaviors. This is the first mixed methods study of individuals with stroke to elaborate on relationships between multiple health behaviors, BMI, and physical function. A conceptual model illustrates addressing sleep disturbances, activity limitations, self-image, and emotions to promote multiple health behaviors. We discuss the relevance of the meta-inferences in designing multiple behavior change interventions for individuals with stroke.
Moltke, Ida; Albrechtsen, Anders; Hansen, Thomas v.O.; Nielsen, Finn C.; Nielsen, Rasmus
2011-01-01
All individuals in a finite population are related if traced back long enough and will, therefore, share regions of their genomes identical by descent (IBD). Detection of such regions has several important applications—from answering questions about human evolution to locating regions in the human genome containing disease-causing variants. However, IBD regions can be difficult to detect, especially in the common case where no pedigree information is available. In particular, all existing non-pedigree based methods can only infer IBD sharing between two individuals. Here, we present a new Markov Chain Monte Carlo method for detection of IBD regions, which does not rely on any pedigree information. It is based on a probabilistic model applicable to unphased SNP data. It can take inbreeding, allele frequencies, genotyping errors, and genomic distances into account. And most importantly, it can simultaneously infer IBD sharing among multiple individuals. Through simulations, we show that the simultaneous modeling of multiple individuals makes the method more powerful and accurate than several other non-pedigree based methods. We illustrate the potential of the method by applying it to data from individuals with breast and/or ovarian cancer, and show that a known disease-causing mutation can be mapped to a 2.2-Mb region using SNP data from only five seemingly unrelated affected individuals. This would not be possible using classical linkage mapping or association mapping. PMID:21493780
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
Cultural and Social Factors Affecting Women's Physical Activity Participation in Taiwan
ERIC Educational Resources Information Center
Yu, Chia-Chen; Liaw, Yin-Hua; Barnd, Susan
2004-01-01
The world is becoming a global village and within many professions, including physical education and sport, individuals have multiple opportunities to work and socialize with people from different ethnic backgrounds, cultures, lifestyles, religions, etc. Due to the increasing cultural diversity, it is important for physical education and sport…
How to Measure Diversity When You Must
ERIC Educational Resources Information Center
Budescu, David V.; Budescu, Mia
2012-01-01
Racial/ethnic diversity has become an increasingly important variable in the social sciences. Research from multiple disciplines consistently demonstrates the tremendous impact of ethnic diversity on individuals and organizations. Investigators use a variety of measures, and their choices can affect the conclusions that can be drawn and limit the…
Making Peace: A Narrative Study of a Bilingual Liaison, a School and a Community.
ERIC Educational Resources Information Center
Hones, Donald F.
1999-01-01
Explores the role of bilingual liaisons in resolving conflicts and building bridges of understanding between schools and diverse communities, discussing the representation of individuals' voices and narrative forms that engage readers aesthetically and critically; addressing multiple conflicts affecting the lives of minority language students,…
Syndromic parkinsonism and dementia associated with OPA 1 missense mutations
Musumeci, Olimpia; Caporali, Leonardo; Zanna, Claudia; La Morgia, Chiara; Del Dotto, Valentina; Porcelli, Anna Maria; Rugolo, Michela; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Barboni, Piero; Carbonelli, Michele; Trombetta, Costantino; Valente, Enza Maria; Patergnani, Simone; Giorgi, Carlotta; Pinton, Paolo; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Avoni, Patrizia; Liguori, Rocco; Baruzzi, Agostino; Toscano, Antonio; Zeviani, Massimo
2015-01-01
Objective Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutations in the mitochondrial fusion genes OPA1 and MFN2 in the pathogenesis of multisystem syndromes characterized by neurodegeneration and accumulation of mtDNA multiple deletions in postmitotic tissues. Here, we report 2 Italian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinsonism and dementia. Methods Patients were extensively studied by optical coherence tomography (OCT) to assess retinal nerve fibers, and underwent muscle and brain magnetic resonance spectroscopy (MRS), and muscle biopsy and fibroblasts were analyzed. Candidate genes were sequenced, and mtDNA was analyzed for rearrangements. Results Affected individuals displayed a slowly progressive syndrome characterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinsonism, and/or cognitive impairment, in most cases without visual complains, but with subclinical loss of retinal nerve fibers at OCT. Muscle biopsies showed cytochrome c oxidase‐negative fibers and mtDNA multiple deletions, and MRS displayed defective oxidative metabolism in muscle and brain. We found 2 heterozygous OPA1 missense mutations affecting highly conserved amino acid positions (p.G488R, p.A495V) in the guanosine triphosphatase domain, each segregating with affected individuals. Fibroblast studies showed a reduced amount of OPA1 protein with normal mRNA expression, fragmented mitochondria, impaired bioenergetics, increased autophagy and mitophagy. Interpretation The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism. Ann Neurol 2015;78:21–38 PMID:25820230
Horváth, Gergely; Mészáros, Boglárka; Urszán, Tamás János; Bajer, Katalin; Molnár, Orsolya; Garamszegi, László Zsolt; Herczeg, Gábor
2017-01-01
Understanding the background mechanisms affecting the emergence and maintenance of consistent between-individual variation within population in single (animal personality) or across multiple (behavioural syndrome) behaviours has key importance. State-dependence theory suggests that behaviour is 'anchored' to individual state (e.g. body condition, gender, age) and behavioural consistency emerges through behavioural-state feedbacks. A number of relevant state variables are labile (e.g. body condition, physiological performance) and expected to be affected by short-term environmental change. Yet, whether short-term environmental shifts affect behavioural consistency during adulthood remains questionable. Here, by employing a full-factorial laboratory experiment, we explored if quantity of food (low vs. high) and time available for thermoregulation (3h vs. 10h per day) had an effect on activity and risk-taking of reproductive adult male European green lizards (Lacerta viridis). We focussed on different components of behavioural variation: (i) strength of behavioural consistency (repeatability for animal personality; between-individual correlation for behavioural syndrome), (ii) behavioural type (individual mean behaviour) and (iii) behavioural predictability (within-individual behavioural variation). Activity was repeatable in all treatments. Risk-taking was repeatable only in the low basking treatments. We found significant between-individual correlation only in the low food × long basking time group. The treatments did not affect behavioural type, but affected behavioural predictability. Activity predictability was higher in the short basking treatment, where it also decreased with size (≈ age). Risk-taking predictability in the short basking treatment increased with size under food limitation, but decreased when food supply was high. We conclude that short-term environmental change can alter various components of behavioural consistency. The effect could be detected in the presence/absence patterns of animal personality and behavioural syndrome and the level of individual behavioural predictability, but not in behavioural type.
Eshkoor, Sima Ataollahi; Hamid, Tengku Aizan; Nudin, Siti Sa'adiah Hassan; Mun, Chan Yoke
2013-06-01
This study aimed to identify the effects of sleep quality, physical activity, environmental quality, age, ethnicity, sex differences, marital status, and educational level on the risk of falls in the elderly individuals with dementia. Data were derived from a group of 1210 Malaysian elderly individuals who were noninstitutionalized and demented. The multiple logistic regression model was applied to estimate the risk of falls in respondents. Approximately the prevalence of falls was 17% among the individuals. The results of multiple logistic regression analysis revealed that age (odds ratio [OR] = 1.03), ethnicity (OR = 1.76), sleep quality (OR = 1.46), and environmental quality (OR = 0.62) significantly affected the risk of falls in individuals (P < .05). Furthermore, sex differences, marital status, educational level, and physical activity were not significant predictors of falls in samples (P > .05). It was found that age, ethnic non-Malay, and sleep disruption increased the risk of falls in respondents, but high environmental quality reduced the risk of falls.
Rodgers, M M; Mulcare, J A; King, D L; Mathews, T; Gupta, S C; Glaser, R M
1999-07-01
Individuals who have multiple sclerosis (MS) typically experience problems with physical activities such as walking, resulting from the combined effects of skeletal muscle weakness, sensory disturbances, spasticity, gait ataxia, and reduction in aerobic capacity. The aim of this study was to determine whether a 6-mo exercise program designed for aerobic conditioning might also affect gait abnormalities in individuals with MS. Subjects included 18 individuals with MS who presented a range of disability. Passive range of motion (PROM) in the lower limbs was measured and gait analyzed before and after exercise conditioning. Three-dimensional kinematics, ground reaction forces (GRF), and electromyographic information were acquired as subjects walked at self-selected velocities. Hip PROM increased following conditioning. Mean walking velocity, cadence, and posterior shear GRF (push-off force) decreased. During walking, maximum ankle dorsiflexion decreased and ankle plantarflexion increased. Total knee flexion/extension range during the walking cycle decreased slightly as did maximum hip extension. Results suggest this 6-mo training program had minimal effect on gait abnormalities.
Space adaptation syndrome: multiple etiological factors and individual differences
NASA Technical Reports Server (NTRS)
Lackner, J. R.; DiZio, P.
1991-01-01
Space motion sickness is a significant operational concern in the American and Soviet space programs. Nearly 70% of all astronauts and cosmonauts are affected to some degree during their first several days of flight. It is now beginning to appear that space motion sickness like terrestrial motion sickness is the consequence of multiple etiological factors. As we come to understand basic mechanisms of spatial orientation and sensory-motor adaptation we can begin to predict etiological factors in different motion environments. Individuals vary greatly in the extent to which they are susceptible to these different factors. However, individuals seem to be relatively self-consistent in terms of their rates of adaptation to provocative stimulation and their retention of adaptation. Attempts to relate susceptibility to motion sickness during the microgravity phases of parabolic flight maneuvers to vestibular function under 1G and 0G test conditions are described.
Staiger, Tobias; Waldmann, Tamara; Oexle, Nathalie; Wigand, Moritz; Rüsch, Nicolas
2018-05-21
The everyday lives of unemployed people with mental health problems can be affected by multiple discrimination, but studies about double stigma-an overlap of identities and experiences of discrimination-in this group are lacking. We therefore studied multiple discrimination among unemployed people with mental health problems and its consequences for job- and help-seeking behaviors. Everyday discrimination and attributions of discrimination to unemployment and/or to mental health problems were examined among 301 unemployed individuals with mental health problems. Job search self-efficacy, barriers to care, and perceived need for treatment were compared among four subgroups, depending on attributions of experienced discrimination to unemployment and to mental health problems (group i); neither to unemployment nor to mental health problems (group ii); mainly to unemployment (group iii); or mainly to mental health problems (group iv). In multiple regressions among all participants, higher levels of discrimination predicted reduced job search self-efficacy and higher barriers to care; and attributions of discrimination to unemployment were associated with increased barriers to care. In ANOVAs for subgroup comparisons, group i participants, who attributed discrimination to both unemployment and mental health problems, reported lower job search self-efficacy, more perceived stigma-related barriers to care and more need for treatment than group iii participants, as well as more stigma-related barriers to care than group iv. Multiple discrimination may affect job search and help-seeking among unemployed individuals with mental health problems. Interventions to reduce public stigma and to improve coping with multiple discrimination for this group should be developed.
Enhancing Approaches to the Identification and Management of Pseudobulbar Affect.
Crumpacker, David W
2016-09-01
Pseudobulbar affect (PBA) is a socially debilitating condition that primarily affects people with neurologic diseases, such as Alzheimer's disease or multiple sclerosis. This condition is characterized by uncontrolled, exaggerated expressions of laughing or crying-often when the situation does not warrant this behavior. Although the true prevalence of PBA is surprisingly high, this condition remains widely misdiagnosed and underdiagnosed. While its exact etiology is unknown, PBA likely results from disruptions in the brain structures and/or neurotransmitters that regulate emotions. Differential diagnosis of PBA includes ruling out depression or other psychiatric conditions. Treatment of PBA has traditionally centered on antidepressant therapies, but newer therapeutic options include combination agents employing multiple modalities. Therapy should include patient counseling to reassure patients and families that PBA is not the fault of the individual. Counseling should also emphasize safety precautions to minimize adverse events and maximize appropriate adherence to the selected therapies. © Copyright 2016 Physicians Postgraduate Press, Inc.
Race, socioeconomic status, and health. The added effects of racism and discrimination.
Williams, D R
1999-01-01
Higher disease rates for blacks (or African Americans) compared to whites are pervasive and persistent over time, with the racial gap in mortality widening in recent years for multiple causes of death. Other racial/ethnic minority populations also have elevated disease risk for some health conditions. This paper considers the complex ways in which race and socioeconomic status (SES) combine to affect health. SES accounts for much of the observed racial disparities in health. Nonetheless, racial differences often persist even at "equivalent" levels of SES. Racism is an added burden for nondominant populations. Individual and institutional discrimination, along with the stigma of inferiority, can adversely affect health by restricting socioeconomic opportunities and mobility. Racism can also directly affect health in multiple ways. Residence in poor neighborhoods, racial bias in medical care, the stress of experiences of discrimination and the acceptance of the societal stigma of inferiority can have deleterious consequences for health.
Estimating peer effects in networks with peer encouragement designs.
Eckles, Dean; Kizilcec, René F; Bakshy, Eytan
2016-07-05
Peer effects, in which the behavior of an individual is affected by the behavior of their peers, are central to social science. Because peer effects are often confounded with homophily and common external causes, recent work has used randomized experiments to estimate effects of specific peer behaviors. These experiments have often relied on the experimenter being able to randomly modulate mechanisms by which peer behavior is transmitted to a focal individual. We describe experimental designs that instead randomly assign individuals' peers to encouragements to behaviors that directly affect those individuals. We illustrate this method with a large peer encouragement design on Facebook for estimating the effects of receiving feedback from peers on posts shared by focal individuals. We find evidence for substantial effects of receiving marginal feedback on multiple behaviors, including giving feedback to others and continued posting. These findings provide experimental evidence for the role of behaviors directed at specific individuals in the adoption and continued use of communication technologies. In comparison, observational estimates differ substantially, both underestimating and overestimating effects, suggesting that researchers and policy makers should be cautious in relying on them.
Cognitive and affective mechanisms of pain and fatigue in multiple sclerosis.
Arewasikporn, Anne; Turner, Aaron P; Alschuler, Kevin N; Hughes, Abbey J; Ehde, Dawn M
2018-06-01
To examine the extent to which pain catastrophizing, fatigue catastrophizing, positive affect, and negative affect simultaneously mediated the associations between common symptoms of multiple sclerosis (MS; i.e., pain, fatigue) and impact on daily life, depressive symptoms, and resilience. Participants were community-dwelling adults with MS (N = 163) reporting chronic pain, fatigue, and/or moderate depressive symptoms. Multiple mediation path analysis was used to model potential mediators of pain and fatigue separately, using baseline data from a randomized controlled trial comparing two symptom self-management interventions. In the pain model, pain catastrophizing was a mediator of pain intensity with pain interference and depression. Negative affect was a mediator of pain intensity with depression and resilience. In the fatigue model, fatigue catastrophizing was a mediator of fatigue intensity with fatigue impact and depression. Positive affect was a mediator of fatigue intensity with depression and resilience. These findings provide preliminary support for the presence of differential effects of cognitive-affective mediators and suggest potential targets for psychological interventions based on an individual's clinical presentation. The differential mediating effects also support the inclusion of both positive and negative aspects of psychological health in models of pain and fatigue, which would not be otherwise apparent if negative constructs were examined in isolation. To our knowledge, this is the first study to utilize a multivariate path analysis approach to examine cognitive-affective mediators of pain and fatigue in MS, while also examining positive and negative constructs concurrently. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
Sankarasubramanian, Vishwanath; Cunningham, David A; Potter-Baker, Kelsey A; Beall, Erik B; Roelle, Sarah M; Varnerin, Nicole M; Machado, Andre G; Jones, Stephen E; Lowe, Mark J; Plow, Ela B
2017-04-01
The pain matrix is comprised of an extensive network of brain structures involved in sensory and/or affective information processing. The thalamus is a key structure constituting the pain matrix. The thalamus serves as a relay center receiving information from multiple ascending pathways and relating information to and from multiple cortical areas. However, it is unknown how thalamocortical networks specific to sensory-affective information processing are functionally integrated. Here, in a proof-of-concept study in healthy humans, we aimed to understand this connectivity using transcranial direct current stimulation (tDCS) targeting primary motor (M1) or dorsolateral prefrontal cortices (DLPFC). We compared changes in functional connectivity (FC) with DLPFC tDCS to changes in FC with M1 tDCS. FC changes were also compared to further investigate its relation with individual's baseline experience of pain. We hypothesized that resting-state FC would change based on tDCS location and would represent known thalamocortical networks. Ten right-handed individuals received a single application of anodal tDCS (1 mA, 20 min) to right M1 and DLPFC in a single-blind, sham-controlled crossover study. FC changes were studied between ventroposterolateral (VPL), the sensory nucleus of thalamus, and cortical areas involved in sensory information processing and between medial dorsal (MD), the affective nucleus, and cortical areas involved in affective information processing. Individual's perception of pain at baseline was assessed using cutaneous heat pain stimuli. We found that anodal M1 tDCS and anodal DLPFC tDCS both increased FC between VPL and sensorimotor cortices, although FC effects were greater with M1 tDCS. Similarly, anodal M1 tDCS and anodal DLPFC tDCS both increased FC between MD and motor cortices, but only DLPFC tDCS modulated FC between MD and affective cortices, like DLPFC. Our findings suggest that M1 stimulation primarily modulates FC of sensory networks, whereas DLPFC stimulation modulates FC of both sensory and affective networks. Our findings when replicated in a larger group of individuals could provide useful evidence that may inform future studies on pain to differentiate between effects of M1 and DLPFC stimulation. Notably, our finding that individuals with high baseline pain thresholds experience greater FC changes with DLPFC tDCS implies the role of DLPFC in pain modulation, particularly pain tolerance.
Sankarasubramanian, Vishwanath; Cunningham, David A.; Potter-Baker, Kelsey A.; Beall, Erik B.; Roelle, Sarah M.; Varnerin, Nicole M.; Machado, Andre G.; Jones, Stephen E.; Lowe, Mark J.
2017-01-01
Abstract The pain matrix is comprised of an extensive network of brain structures involved in sensory and/or affective information processing. The thalamus is a key structure constituting the pain matrix. The thalamus serves as a relay center receiving information from multiple ascending pathways and relating information to and from multiple cortical areas. However, it is unknown how thalamocortical networks specific to sensory-affective information processing are functionally integrated. Here, in a proof-of-concept study in healthy humans, we aimed to understand this connectivity using transcranial direct current stimulation (tDCS) targeting primary motor (M1) or dorsolateral prefrontal cortices (DLPFC). We compared changes in functional connectivity (FC) with DLPFC tDCS to changes in FC with M1 tDCS. FC changes were also compared to further investigate its relation with individual's baseline experience of pain. We hypothesized that resting-state FC would change based on tDCS location and would represent known thalamocortical networks. Ten right-handed individuals received a single application of anodal tDCS (1 mA, 20 min) to right M1 and DLPFC in a single-blind, sham-controlled crossover study. FC changes were studied between ventroposterolateral (VPL), the sensory nucleus of thalamus, and cortical areas involved in sensory information processing and between medial dorsal (MD), the affective nucleus, and cortical areas involved in affective information processing. Individual's perception of pain at baseline was assessed using cutaneous heat pain stimuli. We found that anodal M1 tDCS and anodal DLPFC tDCS both increased FC between VPL and sensorimotor cortices, although FC effects were greater with M1 tDCS. Similarly, anodal M1 tDCS and anodal DLPFC tDCS both increased FC between MD and motor cortices, but only DLPFC tDCS modulated FC between MD and affective cortices, like DLPFC. Our findings suggest that M1 stimulation primarily modulates FC of sensory networks, whereas DLPFC stimulation modulates FC of both sensory and affective networks. Our findings when replicated in a larger group of individuals could provide useful evidence that may inform future studies on pain to differentiate between effects of M1 and DLPFC stimulation. Notably, our finding that individuals with high baseline pain thresholds experience greater FC changes with DLPFC tDCS implies the role of DLPFC in pain modulation, particularly pain tolerance. PMID:28142257
A Developmental Neuroscience Perspective on Affect-Biased Attention
Morales, Santiago; Fu, Xiaoxue; Pérez-Edgar, Koraly E.
2016-01-01
There is growing interest regarding the impact of affect-biased attention on psychopathology. However, most of the research to date lacks a developmental approach. In the present review, we examine the role affect-biased attention plays in shaping socioemotional trajectories within a developmental neuroscience framework. We propose that affect-biased attention, particularly if stable and entrenched, acts as a developmental tether that helps sustain early socioemotional and behavioral profiles over time, placing some individuals on maladaptive developmental trajectories. Although most of the evidence is found in the anxiety literature, we suggest that these relations may operate across multiple domains of interest, including positive affect, externalizing behaviors, drug use, and eating behaviors. We also review the general mechanisms and neural correlates of affect-biased attention, as well as the current evidence for the co-development of attention and affect. Based on the reviewed literature, we propose a model that may help us better understand the nuances of affect-biased attention across development. The model may serve as a strong foundation for ongoing attempts to identify neurocognitive mechanisms and intervene with individuals at risk. Finally, we discuss open issues for future research that may help bridge existing gaps in the literature. PMID:27606972
Matsuzaki, Jun; Kawahara, Yoshihiro; Izawa, Takeshi
2015-01-01
Plant circadian clocks that oscillate autonomously with a roughly 24-h period are entrained by fluctuating light and temperature and globally regulate downstream genes in the field. However, it remains unknown how punctual internal time produced by the circadian clock in the field is and how it is affected by environmental fluctuations due to weather or daylength. Using hundreds of samples of field-grown rice (Oryza sativa) leaves, we developed a statistical model for the expression of circadian clock-related genes integrating diurnally entrained circadian clock with phase setting by light, both responses to light and temperature gated by the circadian clock. We show that expression of individual genes was strongly affected by temperature. However, internal time estimated from expression of multiple genes, which may reflect transcriptional regulation of downstream genes, is punctual to 22 min and not affected by weather, daylength, or plant developmental age in the field. We also revealed perturbed progression of internal time under controlled environment or in a mutant of the circadian clock gene GIGANTEA. Thus, we demonstrated that the circadian clock is a regulatory network of multiple genes that retains accurate physical time of day by integrating the perturbations on individual genes under fluctuating environments in the field. PMID:25757473
ERIC Educational Resources Information Center
Al Mezeini, Khamis Abdallah
2017-01-01
Background: Obstructive sleep apnea (OSA) is chronic disorder that contributes to multiple physiological and psychological conditions. Obstructive sleep apnea contributes to high rates of morbidity and mortality and has substantial impacts on both health care costs and the quality of life for affected individuals and their families. Healthcare…
The Benefits of Frequent Positive Affect: Does Happiness Lead to Success?
ERIC Educational Resources Information Center
Lyubomirsky, Sonja; King, Laura; Diener, Ed
2005-01-01
Numerous studies show that happy individuals are successful across multiple life domains, including marriage, friendship, income, work performance, and health. The authors suggest a conceptual model to account for these findings, arguing that the happiness-success link exists not only because success makes people happy, but also because positive…
CBCL Pediatric Bipolar Disorder Profile and ADHD: Comorbidity and Quantitative Trait Loci Analysis
ERIC Educational Resources Information Center
McGough, James J.; Loo, Sandra K.; McCracken, James T.; Dang, Jeffery; Clark, Shaunna; Nelson, Stanley F.; Smalley, Susan L.
2008-01-01
The pediatric bipolar disorder profile of the Child Behavior checklist is used to differentiate patterns of comorbidity and to search for quantitative trait loci in multiple affected ADHD sibling pairs. The CBCL-PBD profiling identified 8 percent of individuals with severe psychopathology and increased rates of oppositional defiant, conduct and…
Community Destruction and Traumatic Stress in Post-Tsunami Indonesia
ERIC Educational Resources Information Center
Frankenberg, Elizabeth; Nobles, Jenna; Sumantri, Cecep
2012-01-01
How are individuals affected when the communities they live in change for the worse? This question is central to understanding neighborhood effects, but few study designs generate estimates that can be interpreted causally. We address issues of inference through a natural experiment, examining post-traumatic stress at multiple time points in a…
Teaching Empathy and Ethical Decision Making in Business Schools
ERIC Educational Resources Information Center
Baker, Diane F.
2017-01-01
Researchers in behavioral ethics seek to understand how individuals respond to the ethical dilemmas in their lives. In any given situation, multiple social and psychological variables interact to influence ethical decision making. The purpose of this article is to explore how one such variable, empathy, affects the ethical decision-making process…
Turning Mealtimes into Learning Opportunities: Integrating Feeding Goals into IEPs
ERIC Educational Resources Information Center
Bruns, Deborah A.; Thompson, Stacy D.
2014-01-01
In this article, the authors use scenarios to describe three students with different individual needs related to feeding, as well as other developmental domains. Feeding difficulties affect students in multiple ways and addressing feeding-related skills on IEPs can include grocery shopping, food preparation, and placing food orders in various…
Put the Family Back in Family Health History: A Multiple-Informant Approach.
Lin, Jielu; Marcum, Christopher S; Myers, Melanie F; Koehly, Laura M
2017-05-01
An accurate family health history is essential for individual risk assessment. This study uses a multiple-informant approach to examine whether family members have consistent perceptions of shared familial risk for four common chronic conditions (heart disease, Type 2 diabetes, high cholesterol, and hypertension) and whether accounting for inconsistency in family health history reports leads to more accurate risk assessment. In 2012-2013, individual and family health histories were collected from 127 adult informants of 45 families in the Greater Cincinnati Area. Pedigrees were linked within each family to assess inter-informant (in)consistency regarding common biological family member's health history. An adjusted risk assessment based on pooled pedigrees of multiple informants was evaluated to determine whether it could more accurately identify individuals affected by common chronic conditions, using self-reported disease diagnoses as a validation criterion. Analysis was completed in 2015-2016. Inter-informant consistency in family health history reports was 54% for heart disease, 61% for Type 2 diabetes, 43% for high cholesterol, and 41% for hypertension. Compared with the unadjusted risk assessment, the adjusted risk assessment correctly identified an additional 7%-13% of the individuals who had been diagnosed, with a ≤2% increase in cases that were predicted to be at risk but had not been diagnosed. Considerable inconsistency exists in individual knowledge of their family health history. Accounting for such inconsistency can, nevertheless, lead to a more accurate genetic risk assessment tool. A multiple-informant approach is potentially powerful when coupled with technology to support clinical decisions. Published by Elsevier Inc.
Preece, Megan H W; Horswill, Mark S; Ownsworth, Tamara
2016-01-01
To investigate the cumulative effect of multiple self-reported concussions and the enduring effect of concussion on drivers' hazard perception ability. It was hypothesized: (1) that individuals reporting multiple previous concussions would be slower to anticipate traffic hazards than individuals reporting either one previous concussion or none; and (2) that individuals reporting a concussion within the past 3 months would be slower to anticipate traffic hazards than individuals reporting either an earlier concussion or no prior concussion. Two hundred and eighty-two predominantly young drivers (nconcussed = 68, Mage = 21.57 years, SDage = 6.99 years, 66% female) completed a validated hazard perception test (HPT) and measures of emotional, cognitive, health and driving status. A one-way analysis of variance showed that there was no significant effect of concussion number on HPT response times. Similarly, pairwise comparisons showed no significant differences between the HPT response times of individuals reporting a concussion within the previous 3 months, individuals reporting an earlier concussion and the never concussed group. The findings suggest that previous concussions do not adversely affect young drivers' ability to anticipate traffic hazards; however, due to reliance on self-reports of concussion history, further prospective longitudinal research is needed.
White Matter Correlates of Musical Anhedonia: Implications for Evolution of Music.
Loui, Psyche; Patterson, Sean; Sachs, Matthew E; Leung, Yvonne; Zeng, Tima; Przysinda, Emily
2017-01-01
Recent theoretical advances in the evolution of music posit that affective communication is an evolutionary function of music through which the mind and brain are transformed. A rigorous test of this view should entail examining the neuroanatomical mechanisms for affective communication of music, specifically by comparing individual differences in the general population with a special population who lacks specific affective responses to music. Here we compare white matter connectivity in BW, a case with severe musical anhedonia, with a large sample of control subjects who exhibit normal variability in reward sensitivity to music. We show for the first time that structural connectivity within the reward system can predict individual differences in musical reward in a large population, but specific patterns in connectivity between auditory and reward systems are special in an extreme case of specific musical anhedonia. Results support and extend the Mixed Origins of Music theory by identifying multiple neural pathways through which music might operate as an affective signaling system.
White Matter Correlates of Musical Anhedonia: Implications for Evolution of Music
Loui, Psyche; Patterson, Sean; Sachs, Matthew E.; Leung, Yvonne; Zeng, Tima; Przysinda, Emily
2017-01-01
Recent theoretical advances in the evolution of music posit that affective communication is an evolutionary function of music through which the mind and brain are transformed. A rigorous test of this view should entail examining the neuroanatomical mechanisms for affective communication of music, specifically by comparing individual differences in the general population with a special population who lacks specific affective responses to music. Here we compare white matter connectivity in BW, a case with severe musical anhedonia, with a large sample of control subjects who exhibit normal variability in reward sensitivity to music. We show for the first time that structural connectivity within the reward system can predict individual differences in musical reward in a large population, but specific patterns in connectivity between auditory and reward systems are special in an extreme case of specific musical anhedonia. Results support and extend the Mixed Origins of Music theory by identifying multiple neural pathways through which music might operate as an affective signaling system. PMID:28993748
Hornik, Robert C; Yanovitzky, Itzhak
2003-05-01
We present a general theory about how campaigns can have effects and suggest that the evaluation of communication campaigns must be driven by a theory of effects. The National Youth Anti-Drug Media Campaign illustrates both the theory of campaign effects and implications that theory has for the evaluation design. Often models of effect assume that individual exposure affects cognitions that continue to affect behavior over a short term. Contrarily, effects may operate through social or institutional paths as well as through individual learning, require substantial levels of exposure achieved through multiple channels over time, take time to accumulate detectable change, and affect some members of the audience but not others. Responsive evaluations will choose appropriate units of analysis and comparison groups, data collection schedules sensitive to lagged effects, samples able to detect subgroup effects, and analytic strategies consistent with the theory of effects that guides the campaign.
Peer effects in unethical behavior: standing or reputation?
Pascual-Ezama, David; Dunfield, Derek; Gil-Gómez de Liaño, Beatriz; Prelec, Drazen
2015-01-01
Recent empirical evidence shows that working in an unsupervised, isolated situation under competition, can increase dishonest behavior to achieve prestige. However, could working in a common space, in the presence of colleagues affect cheating? Here, we examine how familiar-peer influence, supervision and social incentives affect worker performance and dishonest behavior. First, we show that working in the presence of peers is an effective mechanism to constrain honest/dishonest behavior compared to an isolated work situation (experiment 1). Second, we demonstrate that the mere suspicion of dishonesty from another peer is not enough to affect individual cheating behavior (experiment 2), suggesting that reputation holds great importance in a worker's self-image acting as a strong social incentives. Third, we show that when the suspicion of dishonesty increases with multiple peers behaving dishonestly, the desire to increase standing is sufficient to nudge individuals' behavior back to cheating at the same levels as isolated situations (experiment 3).
Bean, Nigel G.; Ruberu, Ravi P.
2017-01-01
Background The external validity, or generalizability, of trials and guidelines has been considered poor in the context of multiple morbidity. How multiple morbidity might affect the magnitude of benefit of a given treatment, and thereby external validity, has had little study. Objective To provide a method of decision analysis to quantify the effects of age and comorbidity on the probability of deriving a given magnitude of treatment benefit. Design We developed a method to calculate probabilistically the effect of all of a patient’s comorbidities on their underlying utility, or well-being, at a future time point. From this, we derived a distribution of possible magnitudes of treatment benefit at that future time point. We then expressed this distribution as the probability of deriving at least a given magnitude of treatment benefit. To demonstrate the applicability of this method of decision analysis, we applied it to the treatment of hypercholesterolaemia in a geriatric population of 50 individuals. We highlighted the results of four of these individuals. Results This method of analysis provided individualized quantifications of the effect of age and comorbidity on the probability of treatment benefit. The average probability of deriving a benefit, of at least 50% of the magnitude of benefit available to an individual without comorbidity, was only 0.8%. Conclusion The effects of age and comorbidity on the probability of deriving significant treatment benefits can be quantified for any individual. Even without consideration of other factors affecting external validity, these effects may be sufficient to guide decision-making. PMID:29090189
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.
McLaughlin, Kirsty Elizabeth; Kunc, Hansjoerg P
2015-07-01
Anthropogenic noise can affect behaviour across a wide range of species in both terrestrial and aquatic environments. However, behaviours might not be affected in isolation. Therefore, a more holistic approach investigating how environmental stressors, such as noise pollution, affect different behaviours in concert is necessary. Using tank-based noise exposure experiments, we tested how changes in the acoustic environment affect the behaviour of the cichlid Amatitlania nigrofasciata. We found that exposure to anthropogenic noise affected a couple of behaviours: an increase in sheltering was accompanied by a decrease in foraging. Our results highlight the multiple negative effects of an environmental stressor on an individual's behaviour. Copyright © 2015 Elsevier B.V. All rights reserved.
MS in self-identified Hispanic/Latino individuals living in the US
Amezcua, Lilyana; Oksenberg, Jorge R; McCauley, Jacob L
2017-01-01
Self-identified Hispanic/Latino individuals living with multiple sclerosis (MS) in the continental United States (US) are a diverse group that represents different cultural and ancestral backgrounds. A marked variability in the way MS affects various subgroups of Hispanics in the US has been observed. We reviewed and synthesized available data about MS in Hispanics in the US. There are likely a host of multifactorial elements contributing to these observations that could be explained by genetic, environmental, and social underpinnings. Barriers to adequate MS care in Hispanics are likely to include delivery of culturally competent care and social and economic disadvantages. Considerable efforts, including the formation of a national consortium known as the Alliance for Research in Hispanic Multiple Sclerosis (ARHMS), are underway to help further explore these various factors. PMID:28979795
Golla, Heidrun; Strupp, Julia; Karbach, Ute; Kaiser, Claudia; Ernstmann, Nicole; Pfaff, Holger; Ostgathe, Christoph; Voltz, Raymond
2014-01-01
Abstract Background: The needs of patients feeling severely affected by multiple sclerosis (MS) have rarely been investigated. However this is essential information to know before care can be improved, including adding palliative care (PC) services where helpful. Since it remains unclear at what point specialized palliative care should begin for this patient group, this study focuses on needs in general. Objective: The objective was to explore the subjectively unmet needs of patients feeling severely affected by MS. Methods: The study used a qualitative cross-sectional approach for needs assessment. Fifteen patients self-reporting feeling severely affected by MS were recruited and interviewed using a combination of purposive and convenience sampling (five were accompanied by a caregiver relative). Interviews were recorded and transcribed verbatim, followed by qualitative content analysis. Results: Unmet needs were identified in the main categories “support of family and friends,” “health care services,” “managing everyday life,” and “maintaining biographical continuity.” Patients expressed the desire for more support from their families and to be viewed as distinct individuals. They see a substantial deficit in the physician-patient relationship and in the coordination of services. A decrease in expressed unmet needs was found for patients more severely affected and less socially integrated. Conclusions: To address the unmet needs of severely affected MS patients, health care services need to be improved and linked with existing PC services. Special attention is required to form supporting professional-patient relationships. Multiprofessional services should be accessible for patients, while integrating relatives. All services should have an individual approach to provide needs-tailored support. PMID:24527993
Estimating peer effects in networks with peer encouragement designs
Eckles, Dean; Kizilcec, René F.; Bakshy, Eytan
2016-01-01
Peer effects, in which the behavior of an individual is affected by the behavior of their peers, are central to social science. Because peer effects are often confounded with homophily and common external causes, recent work has used randomized experiments to estimate effects of specific peer behaviors. These experiments have often relied on the experimenter being able to randomly modulate mechanisms by which peer behavior is transmitted to a focal individual. We describe experimental designs that instead randomly assign individuals’ peers to encouragements to behaviors that directly affect those individuals. We illustrate this method with a large peer encouragement design on Facebook for estimating the effects of receiving feedback from peers on posts shared by focal individuals. We find evidence for substantial effects of receiving marginal feedback on multiple behaviors, including giving feedback to others and continued posting. These findings provide experimental evidence for the role of behaviors directed at specific individuals in the adoption and continued use of communication technologies. In comparison, observational estimates differ substantially, both underestimating and overestimating effects, suggesting that researchers and policy makers should be cautious in relying on them. PMID:27382145
Schuster-Gossler, Karin; Cordes, Ralf; Müller, Julia; Geffers, Insa; Delany-Heiken, Patricia; Taft, Manuel; Preller, Matthias; Gossler, Achim
2016-01-01
The highly conserved Notch-signaling pathway mediates cell-to-cell communication and is pivotal for multiple developmental processes and tissue homeostasis in adult organisms. Notch receptors and their ligands are transmembrane proteins with multiple epidermal-growth-factor-like (EGF) repeats in their extracellular domains. In vitro the EGF repeats of mammalian ligands that are essential for Notch activation have been defined. However, in vivo the significance of the structural integrity of each EGF repeat in the ligand ectodomain for ligand function is still unclear. Here, we analyzed the mouse Notch ligand DLL1. We expressed DLL1 proteins with mutations disrupting disulfide bridges in each individual EGF repeat from single-copy transgenes in the HPRT locus of embryonic stem cells. In Notch transactivation assays all mutations impinged on DLL1 function and affected both NOTCH1 and NOTCH2 receptors similarly. An allelic series in mice that carried the same point mutations in endogenous Dll1, generated using a mini-gene strategy, showed that early developmental processes depending on DLL1-mediated NOTCH activation were differently sensitive to mutation of individual EGF repeats in DLL1. Notably, some mutations affected only somite patterning and resulted in vertebral column defects resembling spondylocostal dysostosis. In conclusion, the structural integrity of each individual EGF repeat in the extracellular domain of DLL1 is necessary for full DLL1 activity, and certain mutations in Dll1 might contribute to spondylocostal dysostosis in humans. PMID:26801181
Price, Matthew; van Stolk-Cooke, Katherine
2015-11-01
Exposure to traumatic events places individuals at high risk for multiple psychiatric disorders, including posttraumatic stress disorder (PTSD), major depressive disorder (MDD), and generalized anxiety disorder (GAD). The high rates of comorbidity among these conditions merit evaluation in order to improve diagnosis and treatment approaches. The current study evaluated the association between PTSD, MDD, and GAD factors as presented in the DSM 5. 602 trauma-exposed individuals who experienced an event that met Criterion A for the DSM 5 PTSD diagnosis were recruited through Amazon.com, Inc.'s Mechanical Turk (MTurk) to complete an assessment of the impact of stressful events on their lives. High interrelations were detected among the 4 PTSD factors, 2 MDD factors that corresponded to somatic and affective symptoms, and the single GAD factor. The affective factor of MDD was most strongly related to the emotional numbing factor of PTSD, whereas the somatic factor of MDD was most strongly related to the hyperarousal factor of PTSD. The GAD factor was most strongly related to the hyperarousal factor of PTSD, relative to the other PTSD factors. The strength of the interrelations between factors of the three disorders is largely a function of the overlap in symptoms and calls into question the uniqueness of negative affective symptoms of PTSD, MDD and GAD. Results suggest that improved understanding of the trauma reaction requires a focus on the unique presentation of each individual and assessment of multiple disorders. Copyright © 2015 Elsevier B.V. All rights reserved.
Powell, Christopher A; Kopajtich, Robert; D'Souza, Aaron R; Rorbach, Joanna; Kremer, Laura S; Husain, Ralf A; Dallabona, Cristina; Donnini, Claudia; Alston, Charlotte L; Griffin, Helen; Pyle, Angela; Chinnery, Patrick F; Strom, Tim M; Meitinger, Thomas; Rodenburg, Richard J; Schottmann, Gudrun; Schuelke, Markus; Romain, Nadine; Haller, Ronald G; Ferrero, Ileana; Haack, Tobias B; Taylor, Robert W; Prokisch, Holger; Minczuk, Michal
2015-08-06
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression of mtDNA-encoded genes, caused by mutations in either the mitochondrial or nuclear genome, represents a rapidly growing group of human disorders. By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous variants in TRMT5 (tRNA methyltransferase 5). TRMT5 encodes a mitochondrial protein with strong homology to members of the class I-like methyltransferase superfamily. Both affected individuals presented with lactic acidosis and evidence of multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, although the clinical presentation of the two affected subjects was remarkably different; one presented in childhood with failure to thrive and hypertrophic cardiomyopathy, and the other was an adult with a life-long history of exercise intolerance. Mutations in TRMT5 were associated with the hypomodification of a guanosine residue at position 37 (G37) of mitochondrial tRNA; this hypomodification was particularly prominent in skeletal muscle. Deficiency of the G37 modification was also detected in human cells subjected to TRMT5 RNAi. The pathogenicity of the detected variants was further confirmed in a heterologous yeast model and by the rescue of the molecular phenotype after re-expression of wild-type TRMT5 cDNA in cells derived from the affected individuals. Our study highlights the importance of post-transcriptional modification of mitochondrial tRNAs for faithful mitochondrial function. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.
ERIC Educational Resources Information Center
Kiran, Swathi; Caplan, David; Sandberg, Chaleece; Levy, Joshua; Berardino, Alex; Ascenso, Elsa; Villard, Sarah; Tripodis, Yorghos
2012-01-01
Purpose: Two new treatments, 1 based on sentence to picture matching (SPM) and the other on object manipulation (OM), that train participants on the thematic roles of sentences using pictures or by manipulating objects were piloted. Method: Using a single-subject multiple-baseline design, sentence comprehension was trained on the affected sentence…
Making the Invisible Visible: A Model for Delivery Systems in Adult Education
ERIC Educational Resources Information Center
Alex, Jennifer L.; Miller, Elizabeth A.; Platt, R. Eric; Rachal, John R.; Gammill, Deidra M.
2007-01-01
Delivery systems are not well defined in adult education. Therefore, this article reviews the multiple components that overlap to affect the adult learner and uses them to create a model for a comprehensive delivery system in adult education with these individual components as sub-systems that are interrelated and inter-locked. These components…
Multilevel metallization method for fabricating a metal oxide semiconductor device
NASA Technical Reports Server (NTRS)
Hollis, B. R., Jr.; Feltner, W. R.; Bouldin, D. L.; Routh, D. E. (Inventor)
1978-01-01
An improved method is described of constructing a metal oxide semiconductor device having multiple layers of metal deposited by dc magnetron sputtering at low dc voltages and low substrate temperatures. The method provides multilevel interconnections and cross over between individual circuit elements in integrated circuits without significantly reducing the reliability or seriously affecting the yield.
Randall S. Morin; Andrew M. Liebhold
2015-01-01
While invasions of individual non-native phytophagous insect species are known to affect growth and mortality of host trees, little is known about how multiple invasions combine to alter forest dynamics over large regions. In this study we integrate geographical data describing historical invasion spread of the hemlock woolly adelgid, Adelges tsugae...
Monteiro Junior, Renato Sobral; Dantas, Aretha; de Souza, Cíntia Pereira; da Silva, Elirez Bezerra
2012-12-01
Multiple sclerosis is a neurological illness that decreases motor functions. This disease can cause weakness of cardiorespiratory muscles and impaired functional capacity and quality of life. Therefore it requires preventive treatments. This study investigated the acute responses of a virtual physical training session with the Nintendo(®) (Kyoto, Japan) Wii™ on hemodynamic variables of an individual with multiple sclerosis (relapsing-remitting). A 34-year-old man with multiple sclerosis with previous experience in aerobic, strength, and functional training (2 years) was tested. His Expanded Disability Status Scale was 2.5. We compared the heart rate, blood pressure, and double product obtained at rest and during (heart rate) and after the Nintendo Wii games "Boxing" and "Sword Play." In rest, the variables were measured in the supine position. Our results showed positive hemodynamic alterations after execution of both games. The peak of heart rate was 121 beats per minute (65% of maximal heart rate) and 104 beats per minute (56% of maximal heart rate) for "Boxing" and "Sword Play," respectively. The training session with "Boxing" was able to stimulate the heart rate to achieve the recommended values for the maintenance of physical fitness in accordance with the American College of Sports Medicine guidelines. We conclude that an exercise training program with the Nintendo Wii may improve physical fitness in people with multiple sclerosis. Moreover, these activities could improve affective status and perhaps maintain the individual engaged at treatment program.
Neymotin, Benjamin; Ettorre, Victoria; Gresham, David
2016-01-01
Degradation of mRNA contributes to variation in transcript abundance. Studies of individual mRNAs have shown that both cis and trans factors affect mRNA degradation rates. However, the factors underlying transcriptome-wide variation in mRNA degradation rates are poorly understood. We investigated the contribution of different transcript properties to transcriptome-wide degradation rate variation in the budding yeast, Saccharomyces cerevisiae, using multiple regression analysis. We find that multiple transcript properties are significantly associated with variation in mRNA degradation rates, and that a model incorporating these properties explains ∼50% of the genome-wide variance. Predictors of mRNA degradation rates include transcript length, ribosome density, biased codon usage, and GC content of the third position in codons. To experimentally validate these factors, we studied individual transcripts expressed from identical promoters. We find that decreasing ribosome density by mutating the first translational start site of a transcript increases its degradation rate. Using coding sequence variants of green fluorescent protein (GFP) that differ only at synonymous sites, we show that increased GC content of the third position of codons results in decreased rates of mRNA degradation. Thus, in steady-state conditions, a large fraction of genome-wide variation in mRNA degradation rates is determined by inherent properties of transcripts, many of which are related to translation, rather than specific regulatory mechanisms. PMID:27633789
Farías-Antúnez, Simone; Lima, Natália Peixoto; Bierhals, Isabel Oliveira; Gomes, Ana Paula; Vieira, Luna Strieder; Tomasi, Elaine
2018-06-11
to estimate the prevalence of disability related to basic and instrumental activities of daily living and its association with socioeconomic, demographic, behavioral and health characteristics in the elderly. population-based cross-sectional study in Pelotas, Brazil, in 2014; Katz and Lawton scales were used to assess the outcomes using Poisson regression. the study included 1.451 elderly individuals; the prevalence of disability for basic and instrumental activities was 36.1% and 34.0%, respectively, and 18.1% in both; higher prevalence of functional disability were observed individuals ≥80 years (PR=3.01; 95%CI 2.17;4.18), not working (PR=2.02; 95%CI 1.13;3.60) and those with multiple morbidities (PR=3.28; 95%CI 1.38;7.79); and lower in individuals with ≥12 years of schooling (PR=0.40; 95%CI 0.24;0.66), and that were physically active (PR=0.42; 95%CI 0.21;0.82). functional disability was associated to individuals older than 80, with less schooling years and affected by multiple morbidities.
Mercer, Catherine L; Keeton, Barry; Dennis, Nicolas R
2008-04-01
We report two brothers, their mother and a maternal cousin who had a distinctive facial phenotype, mild brachydactyly and prominence of the interphalangeal joints. One brother and the mother also had multiple ventricular extrasystoles. Six other relatives in four generations were probably affected on the basis of history and family photographs. We also report a further individual from a different family with a similar facial phenotype, Pierre-Robin sequence, tapering fingers and multiple ventricular extrasystoles. These families have some similarities to those reported by Stoll et al. in a single family, showing dominant inheritance. Our patients would seem to have the same or a related condition.
A developmental neuroscience perspective on affect-biased attention.
Morales, Santiago; Fu, Xiaoxue; Pérez-Edgar, Koraly E
2016-10-01
There is growing interest regarding the impact of affect-biased attention on psychopathology. However, most of the research to date lacks a developmental approach. In the present review, we examine the role affect-biased attention plays in shaping socioemotional trajectories within a developmental neuroscience framework. We propose that affect-biased attention, particularly if stable and entrenched, acts as a developmental tether that helps sustain early socioemotional and behavioral profiles over time, placing some individuals on maladaptive developmental trajectories. Although most of the evidence is found in the anxiety literature, we suggest that these relations may operate across multiple domains of interest, including positive affect, externalizing behaviors, drug use, and eating behaviors. We also review the general mechanisms and neural correlates of affect-biased attention, as well as the current evidence for the co-development of attention and affect. Based on the reviewed literature, we propose a model that may help us better understand the nuances of affect-biased attention across development. The model may serve as a strong foundation for ongoing attempts to identify neurocognitive mechanisms and intervene with individuals at risk. Finally, we discuss open issues for future research that may help bridge existing gaps in the literature. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.
Jonsen, Ian
2016-02-08
State-space models provide a powerful way to scale up inference of movement behaviours from individuals to populations when the inference is made across multiple individuals. Here, I show how a joint estimation approach that assumes individuals share identical movement parameters can lead to improved inference of behavioural states associated with different movement processes. I use simulated movement paths with known behavioural states to compare estimation error between nonhierarchical and joint estimation formulations of an otherwise identical state-space model. Behavioural state estimation error was strongly affected by the degree of similarity between movement patterns characterising the behavioural states, with less error when movements were strongly dissimilar between states. The joint estimation model improved behavioural state estimation relative to the nonhierarchical model for simulated data with heavy-tailed Argos location errors. When applied to Argos telemetry datasets from 10 Weddell seals, the nonhierarchical model estimated highly uncertain behavioural state switching probabilities for most individuals whereas the joint estimation model yielded substantially less uncertainty. The joint estimation model better resolved the behavioural state sequences across all seals. Hierarchical or joint estimation models should be the preferred choice for estimating behavioural states from animal movement data, especially when location data are error-prone.
Urszán, Tamás János; Bajer, Katalin; Molnár, Orsolya; Garamszegi, László Zsolt; Herczeg, Gábor
2017-01-01
Understanding the background mechanisms affecting the emergence and maintenance of consistent between-individual variation within population in single (animal personality) or across multiple (behavioural syndrome) behaviours has key importance. State-dependence theory suggests that behaviour is ‘anchored’ to individual state (e.g. body condition, gender, age) and behavioural consistency emerges through behavioural-state feedbacks. A number of relevant state variables are labile (e.g. body condition, physiological performance) and expected to be affected by short-term environmental change. Yet, whether short-term environmental shifts affect behavioural consistency during adulthood remains questionable. Here, by employing a full-factorial laboratory experiment, we explored if quantity of food (low vs. high) and time available for thermoregulation (3h vs. 10h per day) had an effect on activity and risk-taking of reproductive adult male European green lizards (Lacerta viridis). We focussed on different components of behavioural variation: (i) strength of behavioural consistency (repeatability for animal personality; between-individual correlation for behavioural syndrome), (ii) behavioural type (individual mean behaviour) and (iii) behavioural predictability (within-individual behavioural variation). Activity was repeatable in all treatments. Risk-taking was repeatable only in the low basking treatments. We found significant between-individual correlation only in the low food × long basking time group. The treatments did not affect behavioural type, but affected behavioural predictability. Activity predictability was higher in the short basking treatment, where it also decreased with size (≈ age). Risk-taking predictability in the short basking treatment increased with size under food limitation, but decreased when food supply was high. We conclude that short-term environmental change can alter various components of behavioural consistency. The effect could be detected in the presence/absence patterns of animal personality and behavioural syndrome and the level of individual behavioural predictability, but not in behavioural type. PMID:29112964
Site-wide seismic risk model for Savannah River Site nuclear facilities
DOE Office of Scientific and Technical Information (OSTI.GOV)
Eide, S.A.; Shay, R.S.; Durant, W.S.
1993-09-01
The 200,000 acre Savannah River Site (SRS) has nearly 30 nuclear facilities spread throughout the site. The safety of each facility has been established in facility-specific safety analysis reports (SARs). Each SAR contains an analysis of risk from seismic events to both on-site workers and the off-site population. Both radiological and chemical releases are considered, and air and water pathways are modeled. Risks to the general public are generally characterized by evaluating exposure to the maximally exposed individual located at the SRS boundary and to the off-site population located within 50 miles. Although the SARs are appropriate methods for studyingmore » individual facility risks, there is a class of accident initiators that can simultaneously affect several of all of the facilities, Examples include seismic events, strong winds or tornados, floods, and loss of off-site electrical power. Overall risk to the off-site population from such initiators is not covered by the individual SARs. In such cases multiple facility radionuclide or chemical releases could occur, and off-site exposure would be greater than that indicated in a single facility SAR. As a step towards an overall site-wide risk model that adequately addresses multiple facility releases, a site-wide seismic model for determining off-site risk has been developed for nuclear facilities at the SRS. Risk from seismic events up to the design basis earthquake (DBE) of 0.2 g (frequency of 2.0E-4/yr) is covered by the model. Present plans include expanding the scope of the model to include other types of initiators that can simultaneously affect multiple facilities.« less
Kratz, Anna L; Braley, Tiffany J; Foxen-Craft, Emily; Scott, Eric; Murphy, John F; Murphy, Susan L
2017-11-01
To examine the relative association between daily change in pain, fatigue, depressed mood, and cognitive function and 4 outcomes-positive affect and well-being, ability to participate in social roles and activities, upper extremity (UE) functioning, and lower extremity (LE) functioning. Data analysis, multilevel mixed modeling. General community. Ambulatory adults (N=102) with multiple sclerosis. Not applicable. Customized short-forms of the Quality of Life in Neurological Disorders positive affect and well-being, UE functioning, and LE functioning item banks and the Patient-Reported Outcomes Measurement Information System ability to participate in social roles and activities item bank adapted for daily use and administered as end-of-day diaries. Above and beyond the effects of demographic and clinical covariates, daily pain was associated with 3 of the 4 outcomes; days of higher than usual pain were related to lower same-day social participation (unstandardized β, B=-1.00; P=.002), UE functioning (B=-1.04; P=.01), and LE functioning (B=-.71; P=.04). Daily fatigue and depressed mood were independently related to daily positive affect and well-being; days of worse fatigue (B=-.54; P=.006) and depressed mood (B=-1.17; P<.0001) were related to lower same-day well-being. The results indicate the role of fluctuations in symptoms in daily functioning and quality of life of individuals with multiple sclerosis. Daily increases in pain intensity are related to social and physical functioning, whereas increases in fatigue and depressed mood are related to lower daily well-being. Findings implicate a person-centered approach to monitoring and treating symptoms. Copyright © 2017 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.
Manca, Andrea; Cabboi, Maria Paola; Ortu, Enzo; Ginatempo, Francesca; Dragone, Daniele; Zarbo, Ignazio Roberto; de Natale, Edoardo Rosario; Mureddu, Giovanni; Bua, Guido; Deriu, Franca
2016-06-01
The contralateral strength training (CST) effect is a transfer of muscle performance to the untrained limb following training of the contralateral side. The aim of this study was to explore, in individuals with multiple sclerosis (MS) presenting marked lower limb strength asymmetry, the effectiveness of CST on management of muscle weakness of the more-affected limb following training of the less-affected limb. A single-subject research design was used. Eight individuals with MS underwent 16 to 18 high-intensity training sessions of the less-affected ankle dorsiflexor muscles. The primary outcome measure of this single-system case series was maximal strength expressed as peak moment and maximal work. Secondary outcome measures were: Six-Minute-Walk Test, Timed "Up & Go" Test, 10-Meter Timed Walk Test, and Multiple Sclerosis Quality of Life-54 questionnaire. After the 6-week intervention, the contralateral more affected (untrained) limb showed a 22% to 24% increase in maximal strength. From pretest-posttest measurements, participants also performed significantly better on the clinical and functional secondary outcome measures. At the 12-week follow-up, the strength levels of the weaker untrained limb remained significantly superior to baseline levels in the majority (5 out of 8) of the outcome parameters. Considering the design used, the absence of a control group, and the sample size, these findings should be cautiously generalized and will need confirmation in a properly planned randomized controlled trial. The present proof-of-concept study shows, for the first time, the occurrence of the CST effect on muscle performance of ankle dorsiflexor muscles in people with MS. These preliminary findings reveal new potential implications for CST as a promising rehabilitation approach to those conditions where unilateral muscle weakness does not allow or makes difficult performing conventional strength training of the weaker limb. © 2016 American Physical Therapy Association.
Mejlachowicz, Dan; Nolent, Flora; Maluenda, Jérome; Ranjatoelina-Randrianaivo, Hanitra; Giuliano, Fabienne; Gut, Ivo; Sternberg, Damien; Laquerrière, Annie; Melki, Judith
2015-01-01
Arthrogryposis multiplex congenita (AMC) is characterized by the presence of multiple joint contractures resulting from reduced or absent fetal movement. Here, we report two unrelated families affected by lethal AMC. By genetic mapping and whole-exome sequencing in a multiplex family, a heterozygous truncating MAGEL2 mutation leading to frameshift and a premature stop codon (c.1996delC, p.Gln666Serfs∗36) and inherited from the father was identified in the probands. In another family, a distinct heterozygous truncating mutation leading to frameshift (c.2118delT, p.Leu708Trpfs∗7) and occurring de novo on the paternal allele of MAGEL2 was identified in the affected individual. In both families, RNA analysis identified the mutated paternal MAGEL2 transcripts only in affected individuals. MAGEL2 is one of the paternally expressed genes within the Prader-Willi syndrome (PWS) locus. PWS is associated with, to varying extents, reduced fetal mobility, severe infantile hypotonia, childhood-onset obesity, hypogonadism, and intellectual disability. MAGEL2 mutations have been recently reported in affected individuals with features resembling PWS and called Schaaf-Yang syndrome. Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene. PMID:26365340
Maluenda, Jérôme; Manso, Constance; Quevarec, Loic; Vivanti, Alexandre; Marguet, Florent; Gonzales, Marie; Guimiot, Fabien; Petit, Florence; Toutain, Annick; Whalen, Sandra; Grigorescu, Romulus; Coeslier, Anne Dieux; Gut, Marta; Gut, Ivo; Laquerrière, Annie; Devaux, Jérôme; Melki, Judith
2016-10-06
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes. The GLDN mutations found in the affected individuals abolish the cell surface localization of gliomedin and its interaction with its axonal partner, neurofascin-186 (NF186), in a cell-based assay. The axoglial contact between gliomedin and NF186 is essential for the initial clustering of Na + channels at developing nodes. These results indicate a major role of gliomedin in node formation and the development of the peripheral nervous system in humans. These data indicate that mutations of GLDN or CNTNAP1 (MIM: 616286), encoding essential components of the nodes of Ranvier and paranodes, respectively, lead to inherited nodopathies, a distinct disease entity among peripheral neuropathies. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Evidence-based guideline: Assessment and management of psychiatric disorders in individuals with MS
Minden, Sarah L.; Feinstein, Anthony; Kalb, Rosalind C.; Miller, Deborah; Mohr, David C.; Patten, Scott B.; Bever, Christopher; Schiffer, Randolph B.; Gronseth, Gary S.; Narayanaswami, Pushpa
2014-01-01
Objective: To make evidence-based recommendations for screening, diagnosing, and treating psychiatric disorders in individuals with multiple sclerosis (MS). Methods: We reviewed the literature (1950 to August 2011) and evaluated the available evidence. Results and recommendations: Clinicians may consider using the Center for Neurologic Study Emotional Lability Scale to screen for pseudobulbar affect (Level C). Clinicians may consider the Beck Depression Inventory and a 2-question tool to screen for depressive disorders and the General Health Questionnaire to screen for broadly defined emotional disturbances (Level C). Evidence is insufficient to support/refute the use of other screening tools, the possibility that somatic/neurovegetative symptoms affect these tools' accuracy, or the use of diagnostic instruments or clinical evaluation procedures for identifying psychiatric disorders in MS (Level U). Clinicians may consider a telephone-administered cognitive behavioral therapy program for treating depressive symptoms (Level C). Although pharmacologic and nonpharmacologic therapies are widely used to treat depressive and anxiety disorders in individuals with MS, evidence is insufficient to support/refute the use of the antidepressants and individual and group therapies reviewed herein (Level U). For pseudobulbar affect, a combination of dextromethorphan and quinidine may be considered (Level C). Evidence is insufficient to determine the psychiatric effects in individuals with MS of disease-modifying and symptomatic therapies and corticosteroids; risk factors for suicide; and treatment of psychotic disorders (Level U). Research is needed on the effectiveness in individuals with MS of pharmacologic and nonpharmacologic treatments frequently used in the non-MS population. PMID:24376275
Sievers, Michael; Hale, Robin; Swearer, Stephen E; Parris, Kirsten M
2018-06-14
Global declines in amphibian populations are a significant conservation concern, and environmental contamination is likely a contributing driver. Although direct toxicity may be partly responsible, contaminants are often present at sub-lethal concentrations in the wild. Behavioural end-points are becoming an increasingly useful method to estimate the impact of contaminants, particularly if the behavioural responses manifest to affect individual fitness (i.e. survival, growth, or reproduction). In the wild, most animals are affected by multiple stressors, and determining how these interact to affect behaviour is critical for understanding the ecological implications of contaminant exposure. Here, we examined the individual and interactive effect of the heavy metal copper and the insecticide imidacloprid on mortality rates and anti-predator behaviours of spotted marsh frog (Limnodynastes tasmaniensis) tadpoles. This common species frequently occupies and breeds in contaminated stormwater and agricultural wetlands, where copper and imidacloprid are often present. These contaminants may alter behaviour via physiological and neurological pathways, as well as affecting how tadpoles respond to chemical cues. Tadpoles suffered unexpectedly high mortality rates when exposed to imidacloprid concentrations well below published LC50 concentrations. Only unexposed tadpoles significantly avoided predator cues. Copper and imidacloprid reduced swimming speed and distance, and escape responses, while increasing erratic swimming. We observed an interactive effect of imidacloprid and copper on erratic swimming, but in general imidacloprid and copper did not act synergistically. Our results suggest that as contaminants enter waterbodies, tadpoles will suffer considerable direct mortality, reduced foraging capacity, and increased susceptibility to predation. Our results provide the first evidence of imidacloprid affecting amphibian behaviour, and highlight both the adverse effects of copper and imidacloprid, and the importance of exploring the effect of multiple contaminants simultaneously. Copyright © 2018 Elsevier Inc. All rights reserved.
ERIC Educational Resources Information Center
Grimm, Kevin; Marcoulides, Katerina
2016-01-01
Researchers are often interested in studying how the timing of a specific event affects concurrent and future development. When faced with such research questions there are multiple statistical models to consider and those models are the focus of this paper as well as their theoretical underpinnings and assumptions regarding the nature of the…
ERIC Educational Resources Information Center
Zecevic, Aleksandra A.; Salmoni, Alan W.; Lewko, John H.; Vandervoort, Anthoney A.; Speechley, Mark
2009-01-01
Purpose: As a highly heterogeneous group, seniors live in complex environments influenced by multiple physical and social structures that affect their safety. Until now, the major approach to falls research has been person centered. However, in industrial settings, the individuals involved in an accident are seen as the inheritors of system…
Exogenous Social Identity Cues Differentially Affect the Dynamic Tracking of Individual Target Faces
ERIC Educational Resources Information Center
Allen, Roy; Gabbert, Fiona
2013-01-01
We report on an experiment to investigate the top-down effect of exogenous social identity cues on a multiple-identity tracking task, a paradigm well suited to investigate the processes of binding identity to spatial locations. Here we simulated an eyewitness event in which dynamic targets, all to be tracked with equal effort, were identified from…
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C A; Patsopoulos, Nikolaos A; Moutsianas, Loukas; Dilthey, Alexander; Su, Zhan; Freeman, Colin; Hunt, Sarah E; Edkins, Sarah; Gray, Emma; Booth, David R; Potter, Simon C; Goris, An; Band, Gavin; Oturai, Annette Bang; Strange, Amy; Saarela, Janna; Bellenguez, Céline; Fontaine, Bertrand; Gillman, Matthew; Hemmer, Bernhard; Gwilliam, Rhian; Zipp, Frauke; Jayakumar, Alagurevathi; Martin, Roland; Leslie, Stephen; Hawkins, Stanley; Giannoulatou, Eleni; D'alfonso, Sandra; Blackburn, Hannah; Martinelli Boneschi, Filippo; Liddle, Jennifer; Harbo, Hanne F; Perez, Marc L; Spurkland, Anne; Waller, Matthew J; Mycko, Marcin P; Ricketts, Michelle; Comabella, Manuel; Hammond, Naomi; Kockum, Ingrid; McCann, Owen T; Ban, Maria; Whittaker, Pamela; Kemppinen, Anu; Weston, Paul; Hawkins, Clive; Widaa, Sara; Zajicek, John; Dronov, Serge; Robertson, Neil; Bumpstead, Suzannah J; Barcellos, Lisa F; Ravindrarajah, Rathi; Abraham, Roby; Alfredsson, Lars; Ardlie, Kristin; Aubin, Cristin; Baker, Amie; Baker, Katharine; Baranzini, Sergio E; Bergamaschi, Laura; Bergamaschi, Roberto; Bernstein, Allan; Berthele, Achim; Boggild, Mike; Bradfield, Jonathan P; Brassat, David; Broadley, Simon A; Buck, Dorothea; Butzkueven, Helmut; Capra, Ruggero; Carroll, William M; Cavalla, Paola; Celius, Elisabeth G; Cepok, Sabine; Chiavacci, Rosetta; Clerget-Darpoux, Françoise; Clysters, Katleen; Comi, Giancarlo; Cossburn, Mark; Cournu-Rebeix, Isabelle; Cox, Mathew B; Cozen, Wendy; Cree, Bruce A C; Cross, Anne H; Cusi, Daniele; Daly, Mark J; Davis, Emma; de Bakker, Paul I W; Debouverie, Marc; D'hooghe, Marie Beatrice; Dixon, Katherine; Dobosi, Rita; Dubois, Bénédicte; Ellinghaus, David; Elovaara, Irina; Esposito, Federica; Fontenille, Claire; Foote, Simon; Franke, Andre; Galimberti, Daniela; Ghezzi, Angelo; Glessner, Joseph; Gomez, Refujia; Gout, Olivier; Graham, Colin; Grant, Struan F A; Guerini, Franca Rosa; Hakonarson, Hakon; Hall, Per; Hamsten, Anders; Hartung, Hans-Peter; Heard, Rob N; Heath, Simon; Hobart, Jeremy; Hoshi, Muna; Infante-Duarte, Carmen; Ingram, Gillian; Ingram, Wendy; Islam, Talat; Jagodic, Maja; Kabesch, Michael; Kermode, Allan G; Kilpatrick, Trevor J; Kim, Cecilia; Klopp, Norman; Koivisto, Keijo; Larsson, Malin; Lathrop, Mark; Lechner-Scott, Jeannette S; Leone, Maurizio A; Leppä, Virpi; Liljedahl, Ulrika; Bomfim, Izaura Lima; Lincoln, Robin R; Link, Jenny; Liu, Jianjun; Lorentzen, Aslaug R; Lupoli, Sara; Macciardi, Fabio; Mack, Thomas; Marriott, Mark; Martinelli, Vittorio; Mason, Deborah; McCauley, Jacob L; Mentch, Frank; Mero, Inger-Lise; Mihalova, Tania; Montalban, Xavier; Mottershead, John; Myhr, Kjell-Morten; Naldi, Paola; Ollier, William; Page, Alison; Palotie, Aarno; Pelletier, Jean; Piccio, Laura; Pickersgill, Trevor; Piehl, Fredrik; Pobywajlo, Susan; Quach, Hong L; Ramsay, Patricia P; Reunanen, Mauri; Reynolds, Richard; Rioux, John D; Rodegher, Mariaemma; Roesner, Sabine; Rubio, Justin P; Rückert, Ina-Maria; Salvetti, Marco; Salvi, Erika; Santaniello, Adam; Schaefer, Catherine A; Schreiber, Stefan; Schulze, Christian; Scott, Rodney J; Sellebjerg, Finn; Selmaj, Krzysztof W; Sexton, David; Shen, Ling; Simms-Acuna, Brigid; Skidmore, Sheila; Sleiman, Patrick M A; Smestad, Cathrine; Sørensen, Per Soelberg; Søndergaard, Helle Bach; Stankovich, Jim; Strange, Richard C; Sulonen, Anna-Maija; Sundqvist, Emilie; Syvänen, Ann-Christine; Taddeo, Francesca; Taylor, Bruce; Blackwell, Jenefer M; Tienari, Pentti; Bramon, Elvira; Tourbah, Ayman; Brown, Matthew A; Tronczynska, Ewa; Casas, Juan P; Tubridy, Niall; Corvin, Aiden; Vickery, Jane; Jankowski, Janusz; Villoslada, Pablo; Markus, Hugh S; Wang, Kai; Mathew, Christopher G; Wason, James; Palmer, Colin N A; Wichmann, H-Erich; Plomin, Robert; Willoughby, Ernest; Rautanen, Anna; Winkelmann, Juliane; Wittig, Michael; Trembath, Richard C; Yaouanq, Jacqueline; Viswanathan, Ananth C; Zhang, Haitao; Wood, Nicholas W; Zuvich, Rebecca; Deloukas, Panos; Langford, Cordelia; Duncanson, Audrey; Oksenberg, Jorge R; Pericak-Vance, Margaret A; Haines, Jonathan L; Olsson, Tomas; Hillert, Jan; Ivinson, Adrian J; De Jager, Philip L; Peltonen, Leena; Stewart, Graeme J; Hafler, David A; Hauser, Stephen L; McVean, Gil; Donnelly, Peter; Compston, Alastair
2011-08-10
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
You are what you eat: diet shapes body composition, personality and behavioural stability.
Han, Chang S; Dingemanse, Niels J
2017-01-10
Behavioural phenotypes vary within and among individuals. While early-life experiences have repeatedly been proposed to underpin interactions between these two hierarchical levels, the environmental factors causing such effects remain under-studied. We tested whether an individual's diet affected both its body composition, average behaviour (thereby causing among-individual variation or 'personality') and within-individual variability in behaviour and body weight (thereby causing among-individual differences in residual within-individual variance or 'stability'), using the Southern field cricket Gryllus bimaculatus as a model. We further asked whether effects of diet on the expression of these variance components were sex-specific. Manipulating both juvenile and adult diet in a full factorial design, individuals were put, in each life-stage, on a diet that was either relatively high in carbohydrates or relatively high in protein. We subsequently measured the expression of multiple behavioural (exploration, aggression and mating activity) and morphological traits (body weight and lipid mass) during adulthood. Dietary history affected both average phenotype and level of within-individual variability: males raised as juveniles on high-protein diets were heavier, more aggressive, more active during mating, and behaviourally less stable, than conspecifics raised on high-carbohydrate diets. Females preferred more protein in their diet compared to males, and dietary history affected average phenotype and within-individual variability in a sex-specific manner: individuals raised on high-protein diets were behaviourally less stable in their aggressiveness but this effect was only present in males. Diet also influenced individual differences in male body weight, but within-individual variance in female body weight. This study thereby provides experimental evidence that dietary history explains both heterogeneous residual within-individual variance (i.e., individual variation in 'behavioural stability') and individual differences in average behaviour (i.e., 'personality'), though dietary effects were notably trait-specific. These findings call for future studies integrating proximate and ultimate perspectives on the role of diet in the evolution of repeatedly expressed traits, such as behaviour and body weight.
Physical activity motivation and benefits in people with multiple sclerosis.
Fasczewski, Kimberly S; Gill, Diane L; Rothberger, Sara M
2018-06-01
Multiple sclerosis is a degenerative neurological disease that affects 2.1 million people worldwide. There is no cure, but an expanding body of research supports the positive impact of physical activity and suggests physical activity has benefits for the individual's psychological and physical well-being. Using Self-Determination Theory as a framework, mixed methods with a focus on qualitative interviews were used to explore physical activity motivation and benefits with a sample of highly active people with multiple sclerosis (n = 15). Disability level ranged from not disabled to wheelchair bound with the majority of participants reporting minimal impact from multiple sclerosis. Survey data were collected using a number of open-ended questions along with measures of self-efficacy, self-determined motivation, physical activity, and quality of life. Additionally, eight individuals participated in semistructured telephone interviews focused on (a) motivation and strategies used to maintain physical activity and (b) the benefits and impact of physical activity in their lives. The main findings were consistent with Self-Determination Theory; participants described feelings of accomplishment and competence in both their physical activity and daily life, as well as a sense of independence and autonomy. Similarly, all participants cited benefits, and the main themes were enhanced satisfaction with life and an overall positive outlook on life. Results provide insight into the role of physical activity in a highly active sample and have implications for professionals working in physical activity settings with the multiple sclerosis population. Interventions aimed at increasing long-term physical activity adherence should focus on increasing autonomy and competence for physical activity in the individual and promoting potential increased quality of life outcomes from physical activity participation. Implications for Rehabilitation Multiple sclerosis is a chronic degenerative neurological disease that the individual lives with for a majority of the lifespan. Physical activity is one means that has been shown to aid is the control of multiple sclerosis symptoms. Increasing patient understanding of the benefits of using physical activity as a means to control multiple sclerosis symptoms may result in long-term physical activity adherence. Physical activity interventions that develop feelings of competence and independent choice in the patient may be more successful for long-term participation.
Solving the puzzle of collective action through inter-individual differences
von Rueden, Chris; Gavrilets, Sergey; Glowacki, Luke
2015-01-01
Models of collective action infrequently account for differences across individuals beyond a limited set of strategies, ignoring variation in endowment (e.g. physical condition, wealth, knowledge, personality, support), individual costs of effort, or expected gains from cooperation. However, behavioural research indicates these inter-individual differences can have significant effects on the dynamics of collective action. The papers contributed to this theme issue evaluate how individual differences affect the propensity to cooperate, and how they can catalyse others’ likelihood of cooperation (e.g. via leadership). Many of the papers emphasize the relationship between individual decisions and socio-ecological context, particularly the effect of group size. All together, the papers in this theme issue provide a more complete picture of collective action, by embracing the reality of inter-individual variation and its multiple roles in the success or failure of collective action. PMID:26503677
Multiple Interactive Pollutants in Water Quality Trading
NASA Astrophysics Data System (ADS)
Sarang, Amin; Lence, Barbara J.; Shamsai, Abolfazl
2008-10-01
Efficient environmental management calls for the consideration of multiple pollutants, for which two main types of transferable discharge permit (TDP) program have been described: separate permits that manage each pollutant individually in separate markets, with each permit based on the quantity of the pollutant or its environmental effects, and weighted-sum permits that aggregate several pollutants as a single commodity to be traded in a single market. In this paper, we perform a mathematical analysis of TDP programs for multiple pollutants that jointly affect the environment (i.e., interactive pollutants) and demonstrate the practicality of this approach for cost-efficient maintenance of river water quality. For interactive pollutants, the relative weighting factors are functions of the water quality impacts, marginal damage function, and marginal treatment costs at optimality. We derive the optimal set of weighting factors required by this approach for important scenarios for multiple interactive pollutants and propose using an analytical elasticity of substitution function to estimate damage functions for these scenarios. We evaluate the applicability of this approach using a hypothetical example that considers two interactive pollutants. We compare the weighted-sum permit approach for interactive pollutants with individual permit systems and TDP programs for multiple additive pollutants. We conclude by discussing practical considerations and implementation issues that result from the application of weighted-sum permit programs.
Subaran, Ryan L.; Odgerel, Zagaa; Swaminathan, Rajeswari; Glatt, Charles E.; Weissman, Myrna M.
2018-01-01
There are no known genetic variants with large effects on susceptibility to major depressive disorder (MDD). Although one proposed study approach is to increase sensitivity by increasing sample sizes, another is to focus on families with multiple affected individuals to identify genes with rare or novel variants with strong effects. Choosing the family-based approach, we performed whole-exome analysis on affected individuals (n = 12) across five MDD families, each with at least five affected individuals, early onset, and prepubertal diagnoses. We identified 67 genes where novel deleterious variants were shared among affected relatives. Gene ontology analysis shows that of these 67 genes, 18 encode transcriptional regulators, eight of which are expressed in the human brain, including four KRAB-A box-containing Zn2+ finger repressors. One of these, ZNF34, has been reported as being associated with bipolar disorder and as differentially expressed in bipolar disorder patients compared to healthy controls. We found a novel variant—encoding a non-conservative P17R substitution in the conserved repressor domain of ZNF34 protein—segregating completely with MDD in all available individuals in the family in which it was discovered. Further analysis showed a common ZNF34 coding indel segregating with MDD in a separate family, possibly indicating the presence of an unobserved, linked, rare variant in that particular family. Our results indicate that genes encoding transcription factors expressed in the brain might be an important group of MDD candidate genes and that rare variants in ZNF34 might contribute to susceptibility to MDD and perhaps other affective disorders. PMID:26823146
Multiple Sclerosis: Epidemiologic, Clinical, and Therapeutic Aspects.
Vidal-Jordana, Angela; Montalban, Xavier
2017-05-01
Multiple sclerosis (MS) is a chronic autoimmune and degenerative disease of the central nervous system that affects young people. MS develops in genetically susceptible individuals exposed to different unknown triggering factors. Different phenotypes are described. About 15% of patients present with a primary progressive course and 85% with a relapsing-remitting course. An increasing number of disease-modifying treatments has emerged. Although encouraging, the number of drugs challenges the neurologist because each treatment has its own risk-benefit profile. Patients should be involved in the decision-making process to ensure good treatment and safety monitoring adherence. Copyright © 2016 Elsevier Inc. All rights reserved.
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.
Rainone, Nunzia; Chiodi, Alessandro; Lanzillo, Roberta; Magri, Valeria; Napolitano, Anna; Morra, Vincenzo Brescia; Valerio, Paolo; Freda, Maria Francesca
2017-03-01
To investigate the moderating role of resilience in the relationship between affective disorders and Health-Related Quality of Life (HRQoL) for adolescents and young adults with multiple sclerosis (MS). A quantitative methodology was adopted. Fifty-three adolescents and young adults were interviewed to assess resilience as a personality trait (Ego-Resiliency Scale) and resilience as an interactive competence (CYRM-28), Health-Related Quality of Life (PedsQL 4.0), depression and anxiety (BDI-II and STAI-Y). Affective disorders, both depression (β = -.38, p < .001) and anxiety (State β = -.35, p < .001; Trait β = -.41, p < .001), were negatively associated with HRQoL. Data also showed that the resilience competencies using Individual (β = .22, p < .001) and relational resources (β = .12, p < .05) are significantly associated HRQoL. According to the regression analyses, we tested the moderating role of resilience competence using individual resources on the relationship between the Depression Cognitive Factor and Emotional Functioning. Data show that in step 2 of the regression analysis, we obtained a variation of β = -.45 (p < .001) to β = -.30 (p < .001) in the dimension for the Depression Cognitive Factor. The Sobel test showed that the moderating effect of resilience was significant regarding the increase in R 2 (p < .01). Resilience competence using individual resources moderates the relationship between the Depression Cognitive Factor and Emotional Functioning in adolescents with MS. Our study suggests that to improve well-being for adolescents with MS resilience could play a key role.
Affective traits and history of depression are related to ventral striatum connectivity.
DelDonno, Sophie R; Jenkins, Lisanne M; Crane, Natania A; Nusslock, Robin; Ryan, Kelly A; Shankman, Stewart A; Phan, K Luan; Langenecker, Scott A
2017-10-15
Studying remitted Major Depressive Disorder (rMDD) facilitates a better understanding of neural mechanisms for risk, given that confounding effects of active symptoms are removed. Disrupted functional connectivity has been reported in multiple networks in MDD. However, no study to date of rMDD has specifically examined connectivity of the ventral striatum (VS), a region highly implicated in reward and motivation. We investigated functional connectivity of the VS in individuals with and without a history of MDD, and in relation to affective personality traits. Forty-two individuals with rMDD and 28 healthy controls across two sites completed resting-state fMRI and the Behavioral Inhibition System/Behavioral Activation System Scale. Voxel-wise, whole-brain comparisons were conducted across and between groups for four seeds: left and right inferior VS (VSi), left and right superior VS (VSs). VSs connectivity to temporal and subcortical regions including the putamen and amygdala was positive and greater in HCs compared to rMDD individuals. Across groups, VSi connectivity was positively correlated with trait reward-responsiveness in somatomotor regions. Across groups, VSs connectivity was positively correlated with trait drive, particularly in the putamen, parahippocampal, and inferior temporal gyrus, and was negatively associated with trait behavioral inhibition in the anterior cingulate, frontal gyri, and insula. Limitations include scanning at two sites and using multiple comparisons. Group connectivity differences emerged from the VSs rather than VSi. VSs showed associations with trait drive and behavioral inhibition, whereas VSi corrrelated with reward-responsiveness. Depression history and affective traits contribute meaningful and specific information about VS connectivity in understanding risk for MDD. Copyright © 2017 Elsevier B.V. All rights reserved.
A qualitative investigation of exercising with MS and the impact on the spousal relationship.
Horton, Sean; MacDonald, Dany J; Erickson, Karl; Dionigi, Rylee A
2015-01-01
Multiple Sclerosis is an autoimmune disease that affects more than 2.3 million people around the world. Symptoms are numerous and varied, often having a profound effect on activities of daily living. While for many years individuals with MS were told to avoid exercise for fear of worsening their symptoms, recent research has emphasized the multi-faceted benefits associated with regular physical activity. Given the strain that MS can put on family and interpersonal relationships, the intention of this study was to investigate the exercise experiences of individuals with MS and the extent to which these experiences affect, or are affected by, their spousal relationship. In-depth qualitative interviews were conducted with 10 individuals, five with MS, along with each of their spouses, in order to gain a comprehensive understanding of living and exercising with the disease. An inductive approach was used to analyze the interview data. The results displayed the important physical, psychological, and social benefits of involvement in an exercise program. Spouses help to counteract barriers and facilitate exercise, and are well aware of the integral role they play in their partner's health and well-being. Spouses also valued the increased independence they gained, in the form of reduced care-giving responsibilities and enhanced social opportunities, as a result of the improved physical function of their partner. These findings contrast the severe strain on spousal relationships that is often reported in studies on people living with MS. Rather than an inexorable downward decline in physical ability that is common with MS, participants spoke of a positive reversal in physical function, which has had far-reaching implications for multiple aspects of their lives, including their psychological outlook, their sense of independence, overcoming isolation, and their relationship with their spouse, all of which are identified in the literature as notable aspects of life affected by the disease.
Hornik, Robert C.; Yanovitzky, Itzhak
2014-01-01
We present a general theory about how campaigns can have effects and suggest that the evaluation of communication campaigns must be driven by a theory of effects. The National Youth Anti-Drug Media Campaign illustrates both the theory of campaign effects and implications that theory has for the evaluation design. Often models of effect assume that individual exposure affects cognitions that continue to affect behavior over a short term. Contrarily, effects may operate through social or institutional paths as well as through individual learning, require substantial levels of exposure achieved through multiple channels over time, take time to accumulate detectable change, and affect some members of the audience but not others. Responsive evaluations will choose appropriate units of analysis and comparison groups, data collection schedules sensitive to lagged effects, samples able to detect subgroup effects, and analytic strategies consistent with the theory of effects that guides the campaign. PMID:25525317
EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis
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
Newland, Pamela; Flick, Louise; Salter, Amber; Dixon, David; Jensen, Mark P
2017-10-01
In individuals with multiple sclerosis (MS) comorbidities and quality of life (QOL) may be affected by tobacco use. To evaluate the associations between smoking status, in particular quit attempts, and comorbidities among individuals with MS. We used a web-based survey to obtain cross-sectional data from 335 individuals with MS who were members of the Gateway Chapter of the National MS Society email registry. We then examined the associations between smoking variables (current use, frequency, and quit attempts) and comorbidities. The prevalence of participants who ever smoked was 50%, which is greater than that reported for the general population; 20% were current smokers. Migraine headaches were associated with current use and everyday smoking, and those with recent failed quit attempts had a higher prevalence of depression than those who were current smokers but who did not attempt to quit or had successfully quit in the past year. Given the associations between smoking and comorbidities in individuals with MS, health care providers should both (1) assess smoking history and quit attempts, and (2) encourage individuals with MS who smoke to become non-smokers and refer for treatment, as indicated. In order to increase the chances that individuals will be successful in becoming non-smokers, clinicians would do well to also assess and treat depression in their patients who smoke and are also depressed. Copyright © 2017 Elsevier Inc. All rights reserved.
Social aspects of multiple sclerosis for Iranian individuals.
Abolhassani, Shahla; Yazdannik, Ahmadreza; Taleghani, Fariba; Zamani, Ahmadreza
2015-01-01
This study aimed to determine the social aspects of multiple sclerosis (MS) in the Iranian individuals. A qualitative case study approach was used for this study, which is a part of a larger qualitative study about health care delivery system of MS. Participants were selected on the basis of purposive sampling method. Semi-structured interviews regarding the social aspects of MS were conducted with 18 MS patients, 6 family members and 7 health care providers. Besides interviews with the participants, documents related to the aim of the study, including weblogs, MS magazines, special websites of individuals with MS and news agencies. Data analysis was performed using the qualitative content analysis technique. Data obtained has been categorised into five main categories, including confronting stigma symbols, the outcome of stigma, walling-in due to stigma, disturbance in normal life and concern about job. There are multiple social effects of MS on the afflicted individuals, which affect various dimensions of their life. Policy makers and health care providers must also consider these effects of MS on other dimensions of the individuals' life. Implications for Rehabilitation Multiple sclerosis (MS) is a disease which restricts social life for patients, in addition to physical impacts. Individuals with MS experienced stigma as well as problems with employment and marital life, due to improper information about MS in society. We recommend that health care workers offer proper information about MS to patients and their family members to minimise the social problems faced by them. We recommend that mass media offers proper information about MS to people in society to disseminate the correct picture of MS. We recommend that the rehabilitation team offers psychological support to patients and their families for their empowerment, to facilitate dealing with the impacts of the disease. We recommend that health care providers teach the family members about patient support and communication skills.
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.
Lee, Wen-Chung
2003-09-01
The future of genetic studies of complex human diseases will rely more and more on the epidemiologic association paradigm. The author proposes to scan the genome for disease-susceptibility gene(s) by testing for deviation from Hardy-Weinberg equilibrium in a gene bank of affected individuals. A power formula is presented, which is very accurate as revealed by Monte Carlo simulations. If the disease-susceptibility gene is recessive with an allele frequency of < or = 0.5 or dominant with an allele frequency of > or = 0.5, the number of subjects needed by the present method is smaller than that needed by using a case-parents design (using either the transmission/disequilibrium test or the 2-df likelihood ratio test). However, the method cannot detect genes with a multiplicative mode of inheritance, and the validity of the method relies on the assumption that the source population from which the cases arise is in Hardy-Weinberg equilibrium. Thus, it is prone to produce false positive and false negative results. Nevertheless, the method enables rapid gene hunting in an existing gene bank of affected individuals with no extra effort beyond simple calculations.
Levy, Aharon; Saguy, Tamar; Halperin, Eran; van Zomeren, Martijn
2017-01-01
The modern era of globalization has been accompanied by a massive growth in interconnections between groups, and has led to the sharing of multiple identities by individuals and groups. Following these developments, research has focused on the issue of multiple identities, and has shed important light on how individuals who hold these complex forms of identity feel and behave, and on the reactions they elicit from members of other groups. However, the potential of groups with such multiple identities (e.g., biracials, immigrants, etc.) to affect the intergroup relations between the groups that represent the respective sources of the different identities (e.g., Blacks and Whites, country of origin and country of residence, etc.) has not been examined to date. Accordingly, in this paper, we first systematically explore the potential of groups in which people identify with multiple social categories, or groups that are perceived as such by others, to play a role in intergroup dynamics. Next, we offer a theoretical framework outlining what functions groups of people with shared multiple identities may serve (as bridges or barriers ) by proposing how their presence may facilitate or deteriorate intergroup relations. Finally, we present recent empirical research examining how groups of people with shared multiple identities can act as gateways and bridge the cleft between two separate groups that represent the respective sources of their different identities, and discuss the theoretical and practical implications for the field of intergroup relations.
Levy, Aharon; Saguy, Tamar; Halperin, Eran; van Zomeren, Martijn
2017-01-01
The modern era of globalization has been accompanied by a massive growth in interconnections between groups, and has led to the sharing of multiple identities by individuals and groups. Following these developments, research has focused on the issue of multiple identities, and has shed important light on how individuals who hold these complex forms of identity feel and behave, and on the reactions they elicit from members of other groups. However, the potential of groups with such multiple identities (e.g., biracials, immigrants, etc.) to affect the intergroup relations between the groups that represent the respective sources of the different identities (e.g., Blacks and Whites, country of origin and country of residence, etc.) has not been examined to date. Accordingly, in this paper, we first systematically explore the potential of groups in which people identify with multiple social categories, or groups that are perceived as such by others, to play a role in intergroup dynamics. Next, we offer a theoretical framework outlining what functions groups of people with shared multiple identities may serve (as bridges or barriers) by proposing how their presence may facilitate or deteriorate intergroup relations. Finally, we present recent empirical research examining how groups of people with shared multiple identities can act as gateways and bridge the cleft between two separate groups that represent the respective sources of their different identities, and discuss the theoretical and practical implications for the field of intergroup relations. PMID:28706501
Multiple sublethal chemicals negatively affect tadpoles of the green frog, Rana clamitans
Boone, Michelle D.; Bridges, Christine M.; Fairchild, James F.; Little, Edward E.
2005-01-01
Many habitats may be exposed to multiple chemical contaminants, particularly in agricultural areas where fertilizer and pesticide use are common; however, the singular and interactive effects of contaminants are not well understood. The objective of our study was to examine how realistic, sublethal environmental levels of ammonium nitrate fertilizer (0, 10, 20 mg/L and ammonium chloride control) and the common insecticide carbaryl (0 or 2.5 mg/L) individually and interactively affect the development, size, and survival of green frog (Rana clamitans) tadpoles. We reared tadpoles for 95 d in outdoor 1,000-L polyethylene ponds. We found that the combination of carbaryl and nitrate had a negative effect on development and mass of tadpoles compared to the positive effect that either contaminant had alone. Presence of carbaryl was generally associated with short-term increases in algal resources, including ponds exposed to both carbaryl and nitrate. However, with exposure to nitrate and carbaryl, tadpole mass and development were not positively affected as with one chemical stressor alone. The combination of these sublethal contaminants may reduce the ability of amphibians to benefit from food-rich environments or have metabolic costs. Our study demonstrates the importance of considering multiple stressors when evaluating population-level responses.
ERIC Educational Resources Information Center
Cackley, Alicia Puente
2010-01-01
According to Census data, more than 12 million adults in the United States report they do not speak English well or at all. Proficiency in reading, writing, speaking, and understanding the English language appears to be linked to multiple dimensions of adult life in the United States, including financial literacy--the ability to make informed…
ERIC Educational Resources Information Center
Bartee, RoSusan D.; Brown, M. Christopher, II.
2007-01-01
There are four types of capital: economic, human, cultural, and social. The distribution of capital in home and school settings affects the types of educational outcomes and the quality of lifelong opportunities that individuals are able to enjoy. Resource availability and accessibility influence the success levels at which teaching and learning…
ERIC Educational Resources Information Center
Barrett, Jennifer; Fleming, Alison S.
2011-01-01
Quality of mothering relies on the integrity of multiple physiological and behavioral systems and on two maternal factors, one proximal and one distal, that have a great impact on how a mother mothers: postpartum depression and early experiences. To mother appropriately requires the action of systems that regulate sensation, perception, affect,…
Underwood, S L; Christoforou, A; Thomson, P A; Wray, N R; Tenesa, A; Whittaker, J; Adams, R A; Le Hellard, S; Morris, S W; Blackwood, D H R; Muir, W J; Porteous, D J; Evans, K L
2006-04-01
The orphan G protein-coupled receptor 78 (GPR78) gene lies within a region of chromosome 4p where we have previously shown linkage to bipolar affective disorder (BPAD) in a large Scottish family. GPR78 was screened for single-nucleotide polymorphisms (SNPs) and a linkage disequilibrium map was constructed. Six tagging SNPs were selected and tested for association on a sample of 377 BPAD, 392 schizophrenia (SCZ) and 470 control individuals. Using standard chi(2) statistics and a backwards logistic regression approach to adjust for the effect of sex, SNP rs1282, located approximately 3 kb upstream of the coding region, was identified as a potentially important variant in SCZ (chi(2) P=0.044; LRT P=0.065). When the analysis was restricted to females, the strength of association increased to an uncorrected allele P-value of 0.015 (odds ratios (OR)=1.688, 95% confidence intervals (CI): 1.104-2.581) and uncorrected genotype P-value of 0.015 (OR=5.991, 95% CI: 1.545-23.232). Under the recessive model, the genotype P-value improved further to 0.005 (OR=5.618, 95% CI: 1.460-21.617) and remained significant after correcting for multiple testing (P=0.017). No single-marker association was detected in the SCZ males, in the BPAD individuals or with any other SNP. Haplotype analysis of the case-control samples revealed several global and individual haplotypes, with P-values <0.05, all but one of which contained SNP rs1282. After correcting for multiple testing, two haplotypes remained significant in both the female BPAD individuals (P=0.038 and 0.032) and in the full sample of affected female individuals (P=0.044 and 0.033). Our results provide preliminary evidence for the involvement of GPR78 in susceptibility to BPAD and SCZ in the Scottish population. Molecular Psychiatry (2006) 11, 384-394. doi:10.1038/sj.mp.4001786; published online 3 January 2006.
Skin Rejuvenation with Non-Invasive Pulsed Electric Fields
NASA Astrophysics Data System (ADS)
Golberg, Alexander; Khan, Saiqa; Belov, Vasily; Quinn, Kyle P.; Albadawi, Hassan; Felix Broelsch, G.; Watkins, Michael T.; Georgakoudi, Irene; Papisov, Mikhail; Mihm, Martin C., Jr.; Austen, William G., Jr.; Yarmush, Martin L.
2015-05-01
Degenerative skin diseases affect one third of individuals over the age of sixty. Current therapies use various physical and chemical methods to rejuvenate skin; but since the therapies affect many tissue components including cells and extracellular matrix, they may also induce significant side effects, such as scarring. Here we report on a new, non-invasive, non-thermal technique to rejuvenate skin with pulsed electric fields. The fields destroy cells while simultaneously completely preserving the extracellular matrix architecture and releasing multiple growth factors locally that induce new cells and tissue growth. We have identified the specific pulsed electric field parameters in rats that lead to prominent proliferation of the epidermis, formation of microvasculature, and secretion of new collagen at treated areas without scarring. Our results suggest that pulsed electric fields can improve skin function and thus can potentially serve as a novel non-invasive skin therapy for multiple degenerative skin diseases.
Within-person variability in response speed as an indicator of cognitive impairment in older adults.
Strauss, Esther; Bielak, Allison A M; Bunce, David; Hunter, Michael A; Hultsch, David F
2007-11-01
Within-person variability may be an important indicator of central nervous system compromise. In this study, within-person variability in response speed was examined in community-dwelling older adults, ages 64-92 years, using a new framework that takes into account both the extent (single versus multiple domains affected) and nature (amnestic versus non-amnestic) of the cognitive impairment. Those with multiple domains of impairment were more variable than those who showed an isolated area of impairment, regardless of whether memory was one of the domains affected. Further, for those with difficulties in two or more non-memory domains, increased variability was most evident in more cognitively demanding situations, when individuals had to manipulate information held briefly in mind, switch cognitive set or inhibit an automatic response. Finally, group differentiation was better achieved when within-person variability as opposed to mean speed of performance was considered.
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.
The complexity of cancer in multiple family members: dynamics of social work collaboration.
Snow, Alison; Gilbertson, Kristen
2011-01-01
This article presents a case study of one family affected by a cancer diagnosis in both the father and the daughter, who were diagnosed within the same time interval and who underwent treatment at the same time. The article examines the relationship between the caregivers and the oncology patient as well as with one another when the stress of diagnosis is compounded by multiple, simultaneous, and similar diagnoses in a highly condensed period of time. A thorough examination of the literature reveals that there are significant gaps regarding how multiple cancer diagnoses in one family affect the family dynamic, individual and collective coping styles, and caregiver burden. The diagnoses can also dramatically exacerbate economic stressors in a family. The coordination of psychosocial care from the perspectives of the adult and pediatric oncology social workers at an urban academic medical center will be discussed. The social work role, importance of collaboration, and family centered care perspective will be discussed as a method of easing the treatment experience for families in psychosocial distress.
Affective mediators of a physical activity intervention for depression in multiple sclerosis.
Kratz, Anna L; Ehde, Dawn M; Bombardier, Charles H
2014-02-01
Previous analyses showed that a telephone-based intervention to increase physical activity in individuals with multiple sclerosis (MS) and depression resulted in significantly improved depressive symptoms compared to a wait-list control group. The aim of this study was to test positive affect and negative affect as mediators of the effect of the physical activity counseling on depressive symptoms. Ninety-two adults with MS, who met diagnostic criteria for either major depression or dysthymia and who reported low levels of physical activity, were randomized 1:1 to a 12-week telephone-based motivational interviewing (MI) intervention to improve physical activity (n = 44) or to a 12-week wait-list control group (n = 48). Self-reported positive and negative affect, physical activity, and depressive symptoms were gathered at baseline and postintervention. Path-analysis was used to test whether positive affect and negative affect mediated the positive effects of the intervention on depressive symptoms. Both positive and negative affect were significant mediators of the effects of the intervention on depressive symptoms; however, only positive affect mediated the association between changes in physical activity and improved depressive symptoms. Findings support physical activity and positive affect as key mediators of the MI treatment effect on improved mood. Decreases in negative affect were also evident in the treatment group, but were not related to improved physical activity. Findings may suggest the use of exercise-based interventions in conjunction with treatments that specifically target negative affective mechanisms for depression. PsycINFO Database Record (c) 2014 APA, all rights reserved.
Ramos-E-Silva, Marcia; Saraiva, Luciana do Espirito Santo
2008-04-01
Paracoccidioidomycosis is a fungal infection that is relatively common in Brazil, Venezuela, Colombia, Ecuador, and Argentina. Sporadic cases can also be seen in some other countries. It is caused by a dimorphic fungus, Paracoccidioides brasiliensis, which affects mainly the skin, lymph nodes, lungs, and oral, nasal, and gastrointestinal mucous membranes. Depending on the specific immunity of the host, the infection can assume many forms and affect single or multiple organs, eventually becoming a severe and even fatal disease. It is very important for dermatologists of all over the world to know about paracoccidioidomycosis because sometimes the disease only manifests many years after the individual has left the endemic area.
Deadlines in space: Selective effects of coordinate spatial processing in multitasking.
Todorov, Ivo; Del Missier, Fabio; Konke, Linn Andersson; Mäntylä, Timo
2015-11-01
Many everyday activities require coordination and monitoring of multiple deadlines. One way to handle these temporal demands might be to represent future goals and deadlines as a pattern of spatial relations. We examined the hypothesis that spatial ability, in addition to executive functioning, contributes to individual differences in multitasking. In two studies, participants completed a multitasking session in which they monitored four digital clocks running at different rates. In Study 1, we found that individual differences in spatial ability and executive functions were independent predictors of multiple-task performance. In Study 2, we found that individual differences in specific spatial abilities were selectively related to multiple-task performance, as only coordinate spatial processing, but not categorical, predicted multitasking, even beyond executive functioning and numeracy. In both studies, males outperformed females in spatial ability and multitasking and in Study 2 these sex differences generalized to a simulation of everyday multitasking. Menstrual changes moderated the effects on multitasking, in that sex differences in coordinate spatial processing and multitasking were observed between males and females in the luteal phase of the menstrual cycle, but not between males and females at menses. Overall, these findings suggest that multiple-task performance reflects independent contributions of spatial ability and executive functioning. Furthermore, our results support the distinction of categorical versus coordinate spatial processing, and suggest that these two basic relational processes are selectively affected by female sex hormones and differentially effective in transforming and handling temporal patterns as spatial relations in the context of multitasking.
The Combined Effects of Daily Stressors and Major Life Events on Daily Subjective Ages.
Bellingtier, Jennifer A; Neupert, Shevaun D; Kotter-Grühn, Dana
2017-07-01
Stressors may be a contributing factor in determining how old an individual feels, looks, or would like to be. Currently, little research has been devoted to understanding the relationship between stressors and subjective age in older adults. We focus on the combined impact of major life-event stressors and daily stressors on multiple indicators of subjective age: felt age, ideal age, and look age. Furthermore, we examine the process by which daily stressors relate to subjective ages by testing whether positive affect, control, and negative affect mediate this relationship. Using a daily-diary design, the current study measured older adults' (60-96 years old) stressors, subjective ages, personal control, and affect. Felt, ideal, and look ages each demonstrated a unique pattern of interactions between daily stressors and major life-event stressors. Furthermore, our findings suggest that on the daily level, the relationship between stressors and felt age is mediated by negative affect but not by control and positive affect. Findings indicate the need to consider the broader contextual picture of stressors, as well as their differential impact on multiple indicators of subjective age. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
The effects of elevated temperature and dissolved ρCO2 on a marine foundation species.
Speights, Cori J; Silliman, Brian R; McCoy, Michael W
2017-06-01
Understanding how climate change and other environmental stressors will affect species is a fundamental concern of modern ecology. Indeed, numerous studies have documented how climate stressors affect species distributions and population persistence. However, relatively few studies have investigated how multiple climate stressors might affect species. In this study, we investigate the impacts of how two climate change factors affect an important foundation species. Specifically, we tested how ocean acidification from dissolution of CO 2 and increased sea surface temperatures affect multiple characteristics of juvenile eastern oysters ( Crassostrea virginica ). We found strong impacts of each stressor, but no interaction between the two. Simulated warming to mimic heat stressed summers reduced oyster growth, survival, and filtration rates. Additionally, we found that CO 2 -induced acidification reduced strength of oyster shells, which could potentially facilitate crab predation. As past studies have detected few impacts of these stressors on adult oysters, these results indicate that early life stages of calcareous marine organisms may be more susceptible to effects of ocean acidification and global warming. Overall, these data show that predicted changes in temperature and CO 2 can differentially influence direct effects on individual species, which could have important implications for the nature of their trophic interactions.
Kattan, Jaffer M.; Serna-Ojeda, Juan Carlos; Sharma, Anushree; Kim, Eung K.; Ramirez-Miranda, Arturo; Cruz-Aguilar, Marisa; Cervantes, Aleck E.; Frausto, Ricardo F.; Zenteno, Juan Carlos; Graue-Hernandez, Enrique O.; Aldave, Anthony J.
2016-01-01
Purpose To describe two unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1(GCD1) following identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). Methods A slit lamp examination was performed on individuals from two families, one of Mexican descent and a second of Italian descent. Following DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed. Results Eight of 20 individuals in the Mexican family and 20 of 55 in the Italian family demonstrated corneal stromal opacities. Seven of the eight affected individuals in the Mexican family and four of the 20 affected individuals in the Italian family demonstrated a phenotype characterized by a “sea fan” or vortex pattern of superficial stromal corneal deposits originating from the inferior aspect of the cornea. Screening of TGFBI in both families revealed a heterozygous missense mutation (p.(Arg555Trp)) in exon 12, confirming the diagnosis of GCD1. Conclusion Our findings demonstrate that GCD1 may present with a vortex pattern of anterior stromal deposits. Although this pattern of dystrophic deposits is not recognized by clinicians as a typical phenotype of GCD1, it is consistent with the production of the majority of the TGFBI protein by the corneal epithelium. PMID:28060069
Ford, Kevin R; Ness, Joshua H; Bronstein, Judith L; Morris, William F
2015-10-01
The impact of mutualists on a partner's demography depends on how they affect the partner's multiple vital rates and how those vital rates, in turn, affect population growth. However, mutualism studies rarely measure effects on multiple vital rates or integrate them to assess the ultimate impact on population growth. We used vital rate data, population models and simulations of long-term population dynamics to quantify the demographic impact of a guild of ant species on the plant Ferocactus wislizeni. The ants feed at the plant's extrafloral nectaries and attack herbivores attempting to consume reproductive organs. Ant-guarded plants produced significantly more fruit, but ants had no significant effect on individual growth or survival. After integrating ant effects across these vital rates, we found that projected population growth was not significantly different between unguarded and ant-guarded plants because population growth was only weakly influenced by differences in fruit production (though strongly influenced by differences in individual growth and survival). However, simulations showed that ants could positively affect long-term plant population dynamics through services provided during rare but important events (herbivore outbreaks that reduce survival or years of high seedling recruitment associated with abundant precipitation). Thus, in this seemingly clear example of mutualism, the interaction may actually yield no clear benefit to plant population growth, or if it does, may only do so through the actions of the ants during rare events. These insights demonstrate the value of taking a demographic approach to studying the consequences of mutualism.
Minden, Sarah L; Feinstein, Anthony; Kalb, Rosalind C; Miller, Deborah; Mohr, David C; Patten, Scott B; Bever, Christopher; Schiffer, Randolph B; Gronseth, Gary S; Narayanaswami, Pushpa
2014-01-14
To make evidence-based recommendations for screening, diagnosing, and treating psychiatric disorders in individuals with multiple sclerosis (MS). We reviewed the literature (1950 to August 2011) and evaluated the available evidence. Clinicians may consider using the Center for Neurologic Study Emotional Lability Scale to screen for pseudobulbar affect (Level C). Clinicians may consider the Beck Depression Inventory and a 2-question tool to screen for depressive disorders and the General Health Questionnaire to screen for broadly defined emotional disturbances (Level C). Evidence is insufficient to support/refute the use of other screening tools, the possibility that somatic/neurovegetative symptoms affect these tools' accuracy, or the use of diagnostic instruments or clinical evaluation procedures for identifying psychiatric disorders in MS (Level U). Clinicians may consider a telephone-administered cognitive behavioral therapy program for treating depressive symptoms (Level C). Although pharmacologic and nonpharmacologic therapies are widely used to treat depressive and anxiety disorders in individuals with MS, evidence is insufficient to support/refute the use of the antidepressants and individual and group therapies reviewed herein (Level U). For pseudobulbar affect, a combination of dextromethorphan and quinidine may be considered (Level C). Evidence is insufficient to determine the psychiatric effects in individuals with MS of disease-modifying and symptomatic therapies and corticosteroids; risk factors for suicide; and treatment of psychotic disorders (Level U). Research is needed on the effectiveness in individuals with MS of pharmacologic and nonpharmacologic treatments frequently used in the non-MS population.
Danker-Hopfe, Heidi; Dorn, Hans; Bolz, Thomas; Peter, Anita; Hansen, Marie-Luise; Eggert, Torsten; Sauter, Cornelia
2016-02-01
Studies on effects of radio frequency-electromagnetic fields (RF-EMF) on the macrostructure of sleep so far yielded inconsistent results. This study investigated whether possible effects of RF-EMF exposure differ between individuals. In a double-blind, randomized, sham-controlled cross-over study possible effects of electromagnetic fields emitted by pulsed Global System for Mobile Communications (GSM) 900 and Wideband Code-Division Multiple Access (WCDMA)/Universal Mobile Telecommunications System (WCDMA/UMTS) devices on sleep were analysed. Thirty healthy young men (range 18-30 years) were exposed three times per exposure condition while their sleep was recorded. Sleep was evaluated according to the American Academy of Sleep Medicine standard and eight basic sleep variables were considered. Data analyses at the individual level indicate that RF-EMF effects are observed in 90% of the individuals and that all sleep variables are affected in at least four subjects. While sleep of participants was affected in various numbers, combinations of sleep variables and in different directions, showing improvements but also deteriorations, the only consistent finding was an increase of stage R sleep under GSM 900MHz exposure (9 of 30 subjects) as well as under WCDMA/UMTS exposure (10 of 30 subjects). The results underline that sleep of individuals can be affected differently. The observations found here may indicate an underlying thermal mechanism of RF-EMF on human REM sleep. Nevertheless, the effect of an increase in stage R sleep in one third of the individuals does not necessarily indicate a disturbance of sleep. Copyright © 2015 Elsevier Inc. All rights reserved.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Sawcer, Stephen; Hellenthal, Garrett; Pirinen, Matti; Spencer, Chris C.A.; Patsopoulos, Nikolaos A.; Moutsianas, Loukas; Dilthey, Alexander; Su, Zhan; Freeman, Colin; Hunt, Sarah E.; Edkins, Sarah; Gray, Emma; Booth, David R.; Potter, Simon C.; Goris, An; Band, Gavin; Oturai, Annette Bang; Strange, Amy; Saarela, Janna; Bellenguez, Céline; Fontaine, Bertrand; Gillman, Matthew; Hemmer, Bernhard; Gwilliam, Rhian; Zipp, Frauke; Jayakumar, Alagurevathi; Martin, Roland; Leslie, Stephen; Hawkins, Stanley; Giannoulatou, Eleni; D’alfonso, Sandra; Blackburn, Hannah; Boneschi, Filippo Martinelli; Liddle, Jennifer; Harbo, Hanne F.; Perez, Marc L.; Spurkland, Anne; Waller, Matthew J; Mycko, Marcin P.; Ricketts, Michelle; Comabella, Manuel; Hammond, Naomi; Kockum, Ingrid; McCann, Owen T.; Ban, Maria; Whittaker, Pamela; Kemppinen, Anu; Weston, Paul; Hawkins, Clive; Widaa, Sara; Zajicek, John; Dronov, Serge; Robertson, Neil; Bumpstead, Suzannah J.; Barcellos, Lisa F.; Ravindrarajah, Rathi; Abraham, Roby; Alfredsson, Lars; Ardlie, Kristin; Aubin, Cristin; Baker, Amie; Baker, Katharine; Baranzini, Sergio E.; Bergamaschi, Laura; Bergamaschi, Roberto; Bernstein, Allan; Berthele, Achim; Boggild, Mike; Bradfield, Jonathan P.; Brassat, David; Broadley, Simon A.; Buck, Dorothea; Butzkueven, Helmut; Capra, Ruggero; Carroll, William M.; Cavalla, Paola; Celius, Elisabeth G.; Cepok, Sabine; Chiavacci, Rosetta; Clerget-Darpoux, Françoise; Clysters, Katleen; Comi, Giancarlo; Cossburn, Mark; Cournu-Rebeix, Isabelle; Cox, Mathew B.; Cozen, Wendy; Cree, Bruce A.C.; Cross, Anne H.; Cusi, Daniele; Daly, Mark J.; Davis, Emma; de Bakker, Paul I.W.; Debouverie, Marc; D’hooghe, Marie Beatrice; Dixon, Katherine; Dobosi, Rita; Dubois, Bénédicte; Ellinghaus, David; Elovaara, Irina; Esposito, Federica; Fontenille, Claire; Foote, Simon; Franke, Andre; Galimberti, Daniela; Ghezzi, Angelo; Glessner, Joseph; Gomez, Refujia; Gout, Olivier; Graham, Colin; Grant, Struan F.A.; Guerini, Franca Rosa; Hakonarson, Hakon; Hall, Per; Hamsten, Anders; Hartung, Hans-Peter; Heard, Rob N.; Heath, Simon; Hobart, Jeremy; Hoshi, Muna; Infante-Duarte, Carmen; Ingram, Gillian; Ingram, Wendy; Islam, Talat; Jagodic, Maja; Kabesch, Michael; Kermode, Allan G.; Kilpatrick, Trevor J.; Kim, Cecilia; Klopp, Norman; Koivisto, Keijo; Larsson, Malin; Lathrop, Mark; Lechner-Scott, Jeannette S.; Leone, Maurizio A.; Leppä, Virpi; Liljedahl, Ulrika; Bomfim, Izaura Lima; Lincoln, Robin R.; Link, Jenny; Liu, Jianjun; Lorentzen, Åslaug R.; Lupoli, Sara; Macciardi, Fabio; Mack, Thomas; Marriott, Mark; Martinelli, Vittorio; Mason, Deborah; McCauley, Jacob L.; Mentch, Frank; Mero, Inger-Lise; Mihalova, Tania; Montalban, Xavier; Mottershead, John; Myhr, Kjell-Morten; Naldi, Paola; Ollier, William; Page, Alison; Palotie, Aarno; Pelletier, Jean; Piccio, Laura; Pickersgill, Trevor; Piehl, Fredrik; Pobywajlo, Susan; Quach, Hong L.; Ramsay, Patricia P.; Reunanen, Mauri; Reynolds, Richard; Rioux, John D.; Rodegher, Mariaemma; Roesner, Sabine; Rubio, Justin P.; Rückert, Ina-Maria; Salvetti, Marco; Salvi, Erika; Santaniello, Adam; Schaefer, Catherine A.; Schreiber, Stefan; Schulze, Christian; Scott, Rodney J.; Sellebjerg, Finn; Selmaj, Krzysztof W.; Sexton, David; Shen, Ling; Simms-Acuna, Brigid; Skidmore, Sheila; Sleiman, Patrick M.A.; Smestad, Cathrine; Sørensen, Per Soelberg; Søndergaard, Helle Bach; Stankovich, Jim; Strange, Richard C.; Sulonen, Anna-Maija; Sundqvist, Emilie; Syvänen, Ann-Christine; Taddeo, Francesca; Taylor, Bruce; Blackwell, Jenefer M.; Tienari, Pentti; Bramon, Elvira; Tourbah, Ayman; Brown, Matthew A.; Tronczynska, Ewa; Casas, Juan P.; Tubridy, Niall; Corvin, Aiden; Vickery, Jane; Jankowski, Janusz; Villoslada, Pablo; Markus, Hugh S.; Wang, Kai; Mathew, Christopher G.; Wason, James; Palmer, Colin N.A.; Wichmann, H-Erich; Plomin, Robert; Willoughby, Ernest; Rautanen, Anna; Winkelmann, Juliane; Wittig, Michael; Trembath, Richard C.; Yaouanq, Jacqueline; Viswanathan, Ananth C.; Zhang, Haitao; Wood, Nicholas W.; Zuvich, Rebecca; Deloukas, Panos; Langford, Cordelia; Duncanson, Audrey; Oksenberg, Jorge R.; Pericak-Vance, Margaret A.; Haines, Jonathan L.; Olsson, Tomas; Hillert, Jan; Ivinson, Adrian J.; De Jager, Philip L.; Peltonen, Leena; Stewart, Graeme J.; Hafler, David A.; Hauser, Stephen L.; McVean, Gil; Donnelly, Peter; Compston, Alastair
2011-01-01
Multiple sclerosis (OMIM 126200) is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability.1 Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals;2,3 and systematic attempts to identify linkage in multiplex families have confirmed that variation within the Major Histocompatibility Complex (MHC) exerts the greatest individual effect on risk.4 Modestly powered Genome-Wide Association Studies (GWAS)5-10 have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects play a key role in disease susceptibility.11 Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the Class I region. Immunologically relevant genes are significantly over-represented amongst those mapping close to the identified loci and particularly implicate T helper cell differentiation in the pathogenesis of multiple sclerosis. PMID:21833088
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
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.
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor
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
Consistent effects of biodiversity loss on multifunctionality across contrasting ecosystems.
Fanin, Nicolas; Gundale, Michael J; Farrell, Mark; Ciobanu, Marcel; Baldock, Jeff A; Nilsson, Marie-Charlotte; Kardol, Paul; Wardle, David A
2018-02-01
Understanding how loss of biodiversity affects ecosystem functioning, and thus the delivery of ecosystem goods and services, has become increasingly necessary in a changing world. Considerable recent attention has focused on predicting how biodiversity loss simultaneously impacts multiple ecosystem functions (that is, ecosystem multifunctionality), but the ways in which these effects vary across ecosystems remain unclear. Here, we report the results of two 19-year plant diversity manipulation experiments, each established across a strong environmental gradient. Although the effects of plant and associated fungal diversity loss on individual functions frequently differed among ecosystems, the consequences of biodiversity loss for multifunctionality were relatively invariant. However, the context-dependency of biodiversity effects also worked in opposing directions for different individual functions, meaning that similar multifunctionality values across contrasting ecosystems could potentially mask important differences in the effects of biodiversity on functioning among ecosystems. Our findings highlight that an understanding of the relative contribution of species or functional groups to individual ecosystem functions among contrasting ecosystems and their interactions (that is, complementarity versus competition) is critical for guiding management efforts aimed at maintaining ecosystem multifunctionality and the delivery of multiple ecosystem services.
Multiple-choice examinations: adopting an evidence-based approach to exam technique.
Hammond, E J; McIndoe, A K; Sansome, A J; Spargo, P M
1998-11-01
Negatively marked multiple-choice questions (MCQs) are part of the assessment process in both the Primary and Final examinations for the fellowship of the Royal College of Anaesthetists. It is said that candidates who guess will lose marks in the MCQ paper. We studied candidates attending a pre-examination revision course and have shown that an evaluation of examination technique is an important part of an individual's preparation. All candidates benefited substantially from backing their educated guesses while only 3 out of 27 lost marks from backing their wild guesses. Failure to appreciate the relationship between knowledge and technique may significantly affect a candidate's performance in the examination.
DiRienzo, Nicholas; Montiglio, Pierre-Olivier
2016-01-01
SUMMARY Developmental experience, for example food abundance during juvenile stages, is known to affect life history and behaviour. However, the life history and behavioural consequences of developmental experience have rarely been studied in concert. As a result it is still unclear whether developmental experience affects behaviour through changes in life history, or independently of it.The effect of developmental experience on life history and behaviour may also be masked or affected by individual condition during adulthood. Thus, it is critical to tease apart the effects of developmental experience and current individual condition on life history and behaviour.In this study we manipulated food abundance during development in the western black widow spider, Latrodectus hesperus, by rearing spiders on either a restricted or ad lib diet. We separated developmental from condition dependent effects by assaying adult foraging behaviour (tendency to attack prey and to stay on out of the refuge following an attack) and web structure multiple times under different levels of satiation following different developmental treatments.Spiders reared under food restriction matured slower and at a smaller size than spiders reared in ad lib conditions. Spiders reared on a restricted diet were more aggressive towards prey and built webs structured for prey capture while spiders reared on an ad lib diet were less aggressive and build safer webs. Developmental treatment affected which traits were plastic as adults: restricted spiders built safer webs when their adult condition increased, while ad-lib spiders reduced their aggression when their adult condition increased. The amount of individual variation in behaviour and web structure varied with developmental treatment. Spiders reared on a restricted diet exhibited consistent variation in all aspects of foraging behaviour and web structure, while spiders reared on an ad lib diet exhibited consistent individual variation in aggression and web weight only.Developmental experience affected the average life history, behaviour, and web structure of spiders, but also shaped the amount of phenotypic variation observed among individuals. Surprisingly, developmental experience also determined the particular way in which individuals plastically adjusted their behaviour and web structure to changes in adult condition. PMID:26937627
Manca, Andrea; Cabboi, Maria Paola; Dragone, Daniele; Ginatempo, Francesca; Ortu, Enzo; De Natale, Edoardo Rosario; Mercante, Beniamina; Mureddu, Giovanni; Bua, Guido; Deriu, Franca
2017-07-01
To compare effects of contralateral strength training (CST) and direct strength training of the more affected ankle dorsiflexors on muscle performance and clinical functional outcomes in people with multiple sclerosis (MS) exhibiting interlimb strength asymmetry. Randomized controlled trial. University hospital. Individuals with relapsing-remitting MS (N=30) and mild-to-moderate disability (Expanded Disability Status Scale score ≤6) presenting with ankle dorsiflexors' strength disparity. Participants were randomly assigned to a CST (n=15) or direct strength training (n=15) group performing 6 weeks of maximal intensity strength training of the less or more affected dorsiflexors, respectively. Maximal strength, endurance to fatigue, and mobility outcomes were assessed before, at the intervention end, and at 12-week follow-up. Strength and fatigue parameters were measured after 3 weeks of training (midintervention). In the more affected limb of both groups, pre- to postintervention significant increases in maximal strength (P≤.006) and fatigue endurance (P≤.04) were detected along with consistent retention of these improvements at follow-up (P≤.04). At midintervention, the direct strength training group showed significant improvements (P≤.002), with no further increase at postintervention, despite training continuation. Conversely, the CST group showed nonsignificant strength gains, increasing to significance at postintervention (P≤.003). In both groups, significant pre- to postintervention improvements in mobility outcomes (P≤.03), not retained at follow-up, were observed. After 6 weeks of training, CST proved as effective as direct strength training in enhancing performance of the more affected limb with a different time course, which may have practical implications in management of severely weakened limbs where direct strength training is not initially possible. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.
Liu, Zuyun; Wu, Di; Huang, Jiapin; Qian, Degui; Chen, Fei; Xu, Jun; Li, Shilin; Jin, Li; Wang, Xiaofeng
2016-01-01
Sensory impairment affects an increasing number of elderly adults, with a negative psychological impact. Our objective was to examine the associations of visual and hearing impairment with subjective well-being (SWB), an important psychological concept defined by life satisfaction [LS], positive affect [PA], negative affect [NA], and affect balance [AB] among long-lived individuals (LLIs) over 95 years of age. Data on 442 LLIs from the Rugao longevity cohort, a population-based study in Rugao, China, were analyzed. Graded classifications of visual and hearing impairment (none, mild, moderate, and severe) were constructed from self-reported items. Bivariate correlation and multiple regression analysis were performed to test the associations. Approximately 66.1% and 87.3% of the subjects reported varying degrees of visual and hearing impairment. Following the degree of vision impairment, LS, PA, and AB decreased linearly, whereas NA increased linearly (all p for trend<0.05). Vision was significantly related to LS (r=0.238, p<0.001), PA (r=0.142, p<0.01), NA (r=-0.157, p<0.001), and AB (r=0.206, p<0.001). After adjustment for multiple variables including functional ability, an important factor of SWB, the associations of vision impairment with LS, NA, and AB, while diminished, still existed. Visual impairment, but not hearing impairment, was independently associated with low SWB among LLIs, and functional ability may play a mediating role in the observed relationship. The findings indicate that rehabilitation targeted for those with reduced vision and functioning in long-lived populations may be important for promoting well-being and quality of life. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Nguyen, Lam Son; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A.; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Géraldine; Shaffer, Lisa G.; Rosenfeld, Jill A.; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F.; Hennekam, Raoul; Wieacker, Peter; Hübner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frédéric; Kalscheuer, Vera M.
2013-01-01
Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic features and intellectual disability (ID). We used haplotype analysis, next-generation sequencing, array comparative genomic hybridization, and chromosome breakpoint mapping to identify the pathogenic mutations in families and simplex cases. Suspected disease variants were verified by cosegregation analysis. We identified disease-causing mutations in the zinc-finger gene ZC4H2 in four families affected by X-linked AMC plus ID and one family affected by cerebral palsy. Several heterozygous females were also affected, but to a lesser degree. Furthermore, we found two ZC4H2 deletions and one rearrangement in two female and one male unrelated simplex cases, respectively. In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density. In zebrafish, antisense-morpholino-mediated zc4h2 knockdown caused abnormal swimming and impaired α-motoneuron development. All missense mutations identified herein failed to rescue the swimming defect of zebrafish morphants. We conclude that ZC4H2 point mutations, rearrangements, and small deletions cause a clinically variable broad-spectrum neurodevelopmental disorder of the central and peripheral nervous systems in both familial and simplex cases of both sexes. Our results highlight the importance of ZC4H2 for genetic testing of individuals presenting with ID plus muscle weakness and minor or major forms of AMC. PMID:23623388
INDIVIDUAL DIFFERENCES IN IMPULSIVE CHOICE AND TIMING IN RATS
Galtress, Tiffany; Garcia, Ana; Kirkpatrick, Kimberly
2012-01-01
Individual differences in impulsive choice behavior have been linked to a variety of behavioral problems including substance abuse, smoking, gambling, and poor financial decision-making. Given the potential importance of individual differences in impulsive choice as a predictor of behavioral problems, the present study sought to measure the extent of individual differences in a normal sample of hooded Lister rats. Three experiments utilized variations of a delay discounting task to measure the degree of variation in impulsive choice behavior across individual rats. The individual differences accounted for 22–55% of the variance in choice behavior across the three experiments. In Experiments 2 and 3, the individual differences were still apparent when behavior was measured across multiple choice points. Large individual differences in the rate of responding, and modest individual differences in timing of responding were also observed during occasional peak trials. The individual differences in timing and rate, however, did not correlate consistently with individual differences in choice behavior. This suggests that a variety of factors may affect choice behavior, response rate, and response timing. PMID:22851792
ERIC Educational Resources Information Center
Sims, Wendy L.
1986-01-01
Small-group listening lessons and subsequent individual posttests were used to judge 94 three- through five-year-old subjects' attention, paired-comparison piece preference, time spent listening, and piece recognition. Research procedures included a modified multiple baseline design and split-screen video taping of instructional sessions.…
Multiple Dimensions of Stigma and Health Related Factors Among Young Black Men Who Have Sex with Men
Quinn, Katherine; Voisin, Dexter R.; Bouris, Alida; Jaffe, Kate; Kuhns, Lisa; Eavou, Rebecca; Schneider, John
2016-01-01
This study is among the first to examine the association between multiple domains of HIV-related stigma and health-related correlates including viral load and medication adherence among young Black men who have sex with men (N = 92). Individual logistic regressions were done to examine the hypothesized relationships between HIV-related stigma and various health and psychosocial outcomes. In addition to examining total stigma, we also examined four domains of HIV stigma. Findings revealed the various domains of stigma had differential effects on health-related outcomes. Individuals who reported higher levels of total stigma and personalized stigma were less likely to be virally suppressed (OR 0.96, 95 % CI 0.91–1.00 and OR 0.50, 95 % CI 0.25–1.02, respectively). Concerns about public attitudes toward HIV were positively related to medication adherence (OR 2.18, 95 % CI 1.20–3.94) and psychological distress (OR 5.02, 95 % CI 1.54–16.34). The various domains of HIV stigma differentially affected health and psychosocial outcomes, and our findings suggest that some forms of HIV stigma may significantly affect viral load and medication adherence among this population. Stigma-informed approaches to care and treatment are needed, along with incorporated psychological and social supports. PMID:27233249
Zhou, Cheng; Wen, Guang-Dong; Soe, Lwin Myint; Xu, Hong-Jun; Du, Juan; Zhang, Jian-Zhong
2016-01-01
Background: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. Methods: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing. Results: Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G. Conclusions: The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations. PMID:27900998
Hajek, André; Bock, Jens-Oliver; König, Hans-Helmut
2017-12-01
Within the framework of the health-belief model, some studies exist investigating the association between illness-specific psychosocial factors and the use of cancer screenings. However, studies investigating the association between general psychosocial factors and the use of cancer screenings are missing. Thus, this study aimed at examining the association between well-established general psychosocial factors and the use of cancer screenings. Data were gathered from a large, population-based sample of community-dwelling individuals aged 40 and above in Germany (n = 7673; in 2014). Loneliness, cognitive well-being, affective well-being (negative and positive affect), optimism, self-efficacy, self-esteem, self-regulation, perceived autonomy, perceived stress, and perceived social exclusion were used as general psychosocial factors. Furthermore, individuals were asked whether they regularly underwent early cancer screening in the past years (yes; no). A total of 65.6% of the individuals used cancer screening. Adjusting for sociodemographic factors, self-rated health, morbidity and lifestyle factors, multiple logistic regressions revealed that the use of cancer screening is positively associated with decreased loneliness, cognitive well-being, optimism, self-efficacy, self-esteem, self-regulation, perceived autonomy, decreased perceived stress, decreased perceived social exclusion, and positive affect, while it is not associated with negative affect. This study stresses the strong association between general psychosocial factors and the use of cancer screening. This knowledge might be fruitful to address individuals at risk for underuse. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
γδ T Cells and dendritic cells in refractory Lyme arthritis
Divan, Ali; Budd, Ralph C.; Tobin, Richard P.; Newell-Rogers, M. Karen
2015-01-01
Lyme disease is a multisystem infection transmitted by tick vectors with an incidence of up to 300,000 individuals/yr in the United States. The primary treatments are oral or i.v. antibiotics. Despite treatment, some individuals do not recover and have prolonged symptoms affecting multiple organs, including the nervous system and connective tissues. Inflammatory arthritis is a common symptom associated with Lyme pathology. In the past decades, γδ T cells have emerged as candidates that contribute to the transition from innate to adaptive responses. These cells are also differentially regulated within the synovia of patients affected by RLA. Here, we review and discuss potential cellular mechanisms involving γδ T cells and DCs in RLA. TLR signaling and antigen processing and presentation will be the key concepts that we review in aid of understanding the impact of γδ T cells in RLA. PMID:25605869
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
Motor neuronal activity varies least among individuals when it matters most for behavior
Cullins, Miranda J.; Shaw, Kendrick M.; Gill, Jeffrey P.
2014-01-01
How does motor neuronal variability affect behavior? To explore this question, we quantified activity of multiple individual identified motor neurons mediating biting and swallowing in intact, behaving Aplysia californica by recording from the protractor muscle and the three nerves containing the majority of motor neurons controlling the feeding musculature. We measured multiple motor components: duration of the activity of identified motor neurons as well as their relative timing. At the same time, we measured behavioral efficacy: amplitude of grasping movement during biting and amplitude of net inward food movement during swallowing. We observed that the total duration of the behaviors varied: Within animals, biting duration shortened from the first to the second and third bites; between animals, biting and swallowing durations varied. To study other sources of variation, motor components were divided by behavior duration (i.e., normalized). Even after normalization, distributions of motor component durations could distinguish animals as unique individuals. However, the degree to which a motor component varied among individuals depended on the role of that motor component in a behavior. Motor neuronal activity that was essential for the expression of biting or swallowing was similar among animals, whereas motor neuronal activity that was not essential for that behavior varied more from individual to individual. These results suggest that motor neuronal activity that matters most for the expression of a particular behavior may vary least from individual to individual. Shaping individual variability to ensure behavioral efficacy may be a general principle for the operation of motor systems. PMID:25411463
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.
Are Some Negotiators Better Than Others? Individual Differences in Bargaining Outcomes
Elfenbein, Hillary Anger; Curhan, Jared R.; Eisenkraft, Noah; Shirako, Aiwa; Baccaro, Lucio
2008-01-01
The authors address the long-standing mystery of stable individual differences in negotiation performance, on which intuition and conventional wisdom have clashed with inconsistent empirical findings. The present study used the Social Relations Model to examine individual differences directly via consistency in performance across multiple negotiations and to disentangle the roles of both parties within these inherently dyadic interactions. Individual differences explained a substantial 46% of objective performance and 19% of subjective performance in a mixed-motive bargaining exercise. Previous work may have understated the influence of individual differences because conventional research designs require specific traits to be identified and measured. Exploratory analyses of a battery of traits revealed few reliable associations with consistent individual differences in objective performance—except for positive beliefs about negotiation, positive affect, and concern for one's outcome, each of which predicted better performance. Findings suggest that the field has large untapped potential to explain substantial individual differences. Limitations, areas for future research, and practical implications are discussed. PMID:21720453
Use of lipidomics to investigate sebum dysfunction in juvenile acne[S
Sinagra, Jo-Linda; Capitanio, Bruno
2016-01-01
Acne is a multifactorial skin disorder frequently observed during adolescence with different grades of severity. Multiple factors centering on sebum secretion are implicated in acne pathogenesis. Despite the recognized role of sebum, its compositional complexity and limited analytical approaches have hampered investigation of alterations specifically associated with acne. To examine the profiles of lipid distribution in acne sebum, 61 adolescents (29 males and 32 females) were enrolled in this study. Seventeen subjects presented no apparent clinical signs of acne. The 44 affected individuals were clinically classified as mild (13 individuals), moderate (19 individuals), and severe (12 individuals) acne. Sebum was sampled from the forehead with SebutapeTM adhesive patches. Profiles of neutral lipids were acquired with rapid-resolution reversed-phase/HPLC-TOF/MS in positive ion mode. Univariate and multivariate statistical analyses led to the identification of lipid species with significantly different levels between healthy and acne sebum. The majority of differentiating lipid species were diacylglycerols (DGs), followed by fatty acyls, sterols, and prenols. Overall, the data indicated an association between the clinical grading of acne and sebaceous lipid fingerprints and highlighted DGs as more abundant in sebum from adolescents affected with acne. PMID:27127078
Lv, Weihua; Zheng, Xianhu; Kuang, Youyi; Cao, Dingchen; Yan, Yunqin; Sun, Xiaowen
2016-05-05
Comparing QTL analyses of multiple pair-mating families can provide a better understanding of important allelic variations and distributions. However, most QTL mapping studies in common carp have been based on analyses of individual families. In order to improve our understanding of heredity and variation of QTLs in different families and identify important QTLs, we performed QTL analysis of growth-related traits in multiple segregating families. We completed a genome scan for QTLs that affect body weight (BW), total length (TL), and body thickness (BT) of 522 individuals from eight full-sib families using 250 microsatellites evenly distributed across 50 chromosomes. Sib-pair and half-sib model mapping identified 165 QTLs on 30 linkage groups. Among them, 10 (genome-wide P <0.01 or P < 0.05) and 28 (chromosome-wide P < 0.01) QTLs exhibited significant evidence of linkage, while the remaining 127 exhibited a suggestive effect on the above three traits at a chromosome-wide (P < 0.05) level. Multiple QTLs obtained from different families affect BW, TL, and BT and locate at close or identical positions. It suggests that same genetic factors may control variability in these traits. Furthermore, the results of the comparative QTL analysis of multiple families showed that one QTL was common in four of the eight families, nine QTLs were detected in three of the eight families, and 26 QTLs were found common to two of the eight families. These common QTLs are valuable candidates in marker-assisted selection. A large number of QTLs were detected in the common carp genome and associated with growth-related traits. Some of the QTLs of different growth-related traits were identified at similar chromosomal regions, suggesting a role for pleiotropy and/or tight linkage and demonstrating a common genetic basis of growth trait variations. The results have set up an example for comparing QTLs in common carp and provided insights into variations in the identified QTLs affecting body growth. Discovery of these common QTLs between families and growth-related traits represents an important step towards understanding of quantitative genetic variation in common carp.
Individual and Neighborhood Stressors, Air Pollution and Cardiovascular Disease.
Hazlehurst, Marnie F; Nurius, Paula S; Hajat, Anjum
2018-03-08
Psychosocial and environmental stress exposures across the life course have been shown to be relevant in the development of cardiovascular disease (CVD). Assessing more than one stressor from different domains (e.g., individual and neighborhood) and across the life course moves us towards a more integrated picture of how stress affects health and well-being. Furthermore, these individual and neighborhood psychosocial stressors act on biologic pathways, including immune function and inflammatory response, which are also impacted by ubiquitous environmental exposures such as air pollution. The objective of this study is to evaluate the interaction between psychosocial stressors, at both the individual and neighborhood level, and air pollution on CVD. This study used data from the 2009-2011 Behavioral Risk Factor Surveillance System (BRFSS) from Washington State. Adverse childhood experiences (ACEs) measured at the individual level, and neighborhood deprivation index (NDI) measured at the zip code level, were the psychosocial stressors of interest. Exposures to three air pollutants-particulate matter (both PM 2.5 and PM 10 ) and nitrogen dioxide (NO₂)-were also calculated at the zip code level. Outcome measures included several self-reported CVD-related health conditions. Both multiplicative and additive interaction quantified using the relative excess risk due to interaction (RERI), were evaluated. This study included 32,151 participants in 502 unique zip codes. Multiplicative and positive additive interactions were observed between ACEs and PM 10 for diabetes, in models adjusted for NDI. The prevalence of diabetes was 1.58 (95% CI: 1.40, 1.79) times higher among those with both high ACEs and high PM 10 compared to those with low ACEs and low PM 10 ( p -value = 0.04 for interaction on the multiplicative scale). Interaction was also observed between neighborhood-level stressors (NDI) and air pollution (NO₂) for the stroke and diabetes outcomes on both multiplicative and additive scales. Modest interaction was observed between NDI and air pollution, supporting prior literature on the importance of neighborhood-level stressors in cardiovascular health and reinforcing the importance of NDI on air pollution health effects. ACEs may exert health effects through selection into disadvantaged neighborhoods and more work is needed to understand the accumulation of risk in multiple domains across the life course.
Does insertion of intramuscular electromyographic electrodes alter motor behavior during locomotion?
Armour Smith, Jo; Kulig, Kornelia
2015-06-01
Intramuscular electromyography (EMG) is commonly used to quantify activity in the trunk musculature. However, it is unclear if the discomfort or fear of pain associated with insertion of intramuscular EMG electrodes results in altered motor behavior. This study examined whether intramuscular EMG affects locomotor speed and trunk motion, and examined the anticipated and actual pain associated with electrode insertion in healthy individuals and individuals with a history of low back pain (LBP). Before and after insertion of intramuscular electrodes into the lumbar and thoracic paraspinals, participants performed multiple repetitions of a walking turn at self-selected and controlled average speed. Low levels of anticipated and actual pain were reported in both groups. Self-selected locomotor speed was significantly increased following insertion of the electrodes. At the controlled speed, the amplitude of sagittal plane lumbo-pelvic motion decreased significantly post-insertion, but the extent of this change was the same in both groups. Lumbo-pelvic motion in the frontal and axial planes and thoraco-lumbar motion in all planes were not affected by the insertions. This study demonstrates that intramuscular EMG is an appropriate methodology to selectively quantify the activation patterns of the individual muscles in the paraspinal group, both in healthy individuals and individuals with a history of LBP. Copyright © 2015 Elsevier Ltd. All rights reserved.
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.
The simple rules of social contagion.
Hodas, Nathan O; Lerman, Kristina
2014-03-11
It is commonly believed that information spreads between individuals like a pathogen, with each exposure by an informed friend potentially resulting in a naive individual becoming infected. However, empirical studies of social media suggest that individual response to repeated exposure to information is far more complex. As a proxy for intervention experiments, we compare user responses to multiple exposures on two different social media sites, Twitter and Digg. We show that the position of exposing messages on the user-interface strongly affects social contagion. Accounting for this visibility significantly simplifies the dynamics of social contagion. The likelihood an individual will spread information increases monotonically with exposure, while explicit feedback about how many friends have previously spread it increases the likelihood of a response. We provide a framework for unifying information visibility, divided attention, and explicit social feedback to predict the temporal dynamics of user behavior.
The Simple Rules of Social Contagion
NASA Astrophysics Data System (ADS)
Hodas, Nathan O.; Lerman, Kristina
2014-03-01
It is commonly believed that information spreads between individuals like a pathogen, with each exposure by an informed friend potentially resulting in a naive individual becoming infected. However, empirical studies of social media suggest that individual response to repeated exposure to information is far more complex. As a proxy for intervention experiments, we compare user responses to multiple exposures on two different social media sites, Twitter and Digg. We show that the position of exposing messages on the user-interface strongly affects social contagion. Accounting for this visibility significantly simplifies the dynamics of social contagion. The likelihood an individual will spread information increases monotonically with exposure, while explicit feedback about how many friends have previously spread it increases the likelihood of a response. We provide a framework for unifying information visibility, divided attention, and explicit social feedback to predict the temporal dynamics of user behavior.
Ludwig, V; Mihov, Y; Schwarting, R K W
2008-05-16
Using the elevated plus-maze (EPM), Wistar rats can be distinguished into high (HA) or low anxiety (LA) subjects. These differences seem to reflect traits, since HA and LA rats vary also in other anxiety-dependent tasks, neurochemical mechanisms, and psychopharmacological reactivity, including lasting consequences after single treatment with 3,4-methylenedioxymethamphetamine (MDMA). Here, we tested whether multiple MDMA treatments also have subject-dependent effects. Based on routine EPM screening, male Wistar rats were divided into HA and LA sub-groups, which received five (i.e. multiple) daily injections of MDMA (5 mg/kg) or saline, followed by a test battery, including a challenge test with MDMA, a retest in the EPM, a novel-object test, and a final neurochemical analysis. Acutely, MDMA led to comparable hyperactivity in HA and LA rats. After multiple MDMA, behavioral sensitization was observed, especially in LA rats. Open arm time during the EPM retest (min 0-5) correlated with that of the initial one only in those rats, which had received a single injection of MDMA. Rats with multiple MDMA, especially LA-rats, showed more open-arm time and locomotion during the subsequent 5-10 min of the retest. In a novel-object test, rats with multiple MDMA, again especially LA subjects, showed more exploratory bouts towards the novel object. Neurochemically, multiple MDMA led to moderately lower serotonin in the ventral striatum, and higher dopamine levels in the frontal cortex as compared to single MDMA; these effects were also moderated by subject-dependent factors. Our data show that low-dosed multiple MDMA can lead to behavioral sensitization and outlasting consequences, which affect behavior in the EPM and a novel object task. Detecting such sequels partly requires consideration of individual differences.
BDNF val66met Polymorphism Affects Aging of Multiple Types of Memory
Kennedy, Kristen M.; Reese, Elizabeth D.; Horn, Marci M.; Sizemore, April N.; Unni, Asha K.; Meerbrey, Michael E.; Kalich, Allan G.; Rodrigue, Karen M.
2014-01-01
The BDNF val66met polymorphism (rs6265) influences activity-dependent secretion of brain-derived neurotrophic factor in the synapse, which is crucial for learning and memory. Individuals homozygous or heterozygous for the met allele have lower BDNF secretion than val homozygotes and may be at risk for reduced declarative memory performance, but it remains unclear which types of declarative memory may be affected and how aging of memory across the lifespan is impacted by the BDNF val66met polymorphism. This cross-sectional study investigated the effects of BDNF polymorphism on multiple indices of memory (item, associative, prospective, subjective complaints) in a lifespan sample of 116 healthy adults aged 20-93 years. Advancing age showed a negative effect on item, associative and prospective memory, but not on subjective memory complaints. For item and prospective memory, there were significant age x BDNF group interactions, indicating the adverse effect of age on memory performance across the lifespan was much stronger in the BDNF met carriers than for the val homozygotes. BDNF met carriers also endorsed significantly greater subjective memory complaints, regardless of age, and showed a trend (p < .07) toward poorer associative memory performance compared to val homozygotes. These results suggest that genetic predisposition to the availability of brain-derived neurotrophic factor, by way of the BDNF val66met polymorphism, exerts an influence on multiple indices of episodic memory – in some cases in all individuals regardless of age (subjective memory and perhaps associative memory), in others as an exacerbation of age-related differences in memory across the lifespan (item and prospective memory). PMID:25264352
Creation of an international registry to support discovery in schwannomatosis.
Ostrow, K L; Bergner, A L; Blakeley, J; Evans, D G; Ferner, R; Friedman, J M; Harris, G J; Jordan, J T; Korf, B; Langmead, S; Leschziner, G; Mautner, V; Merker, V L; Papi, L; Plotkin, S R; Slopis, J M; Smith, M J; Stemmer-Rachamimov, A; Yohay, K; Belzberg, A J
2017-02-01
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered. A well-curated registry of schwannomatosis patients is needed to facilitate research in field. An international consortium of clinicians and scientists across multiple disciplines with expertise in schwannomatosis was established and charged with the task of designing and populating a schwannomatosis patient registry. The International Schwannomatosis Registry (ISR) was built around key data points that allow confirmation of the diagnosis and identification of potential research subjects to advance research to further the knowledge base for schwannomatosis. A registry with 389 participants enrolled to date has been established. Twenty-three additional subjects are pending review. A formal process has been established for scientific investigators to propose research projects, identify eligible subjects, and seek collaborators from ISR sites. Research collaborations have been created using the information collected by the registry and are currently being conducted. The ISR is a platform from which multiple research endeavors can be launched, facilitating connections between affected individuals interested in participating in research and researchers actively investigating a variety of aspects of schwannomatosis. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.
Psarakis, Michael; Greene, David; Moresi, Mark; Baker, Michael; Stubbs, Peter; Brodie, Matthew; Lord, Stephen; Hoang, Phu
2017-11-01
Gait impairment in people with Multiple Sclerosis results from neurological impairment, muscle weakness and reduced range of motion. Restrictions in passive ankle range of motion can result in abnormal heel-to-toe progression (weight transfer) and inefficient gait patterns in people with Multiple Sclerosis. The purpose of this study was to determine the associations between gait impairment, heel-to-toe progression and ankle range of motion in people with Multiple Sclerosis. Twelve participants with Multiple Sclerosis and twelve healthy age-matched participants were assessed. Spatiotemporal parameters of gait and individual footprint data were used to investigate group differences. A pressure sensitive walkway was used to divide each footprint into three phases (contact, mid-stance, propulsive) and calculate the heel-to-toe progression during the stance phase of gait. Compared to healthy controls, people with Multiple Sclerosis spent relatively less time in contact phase (7.8% vs 25.1%) and more time in the mid stance phase of gait (57.3% vs 33.7%). Inter-limb differences were observed in people with Multiple Sclerosis between the affected and non-affected sides for contact (7.8% vs 15.3%) and mid stance (57.3% and 47.1%) phases. Differences in heel-to-toe progression remained significant after adjusting for walking speed and were correlated with walking distance and ankle range of motion. Impaired heel-to-toe progression was related to poor ankle range of motion in people with Multiple Sclerosis. Heel-to-toe progression provided a sensitive measure for assessing gait impairments that were not detectable using standard spatiotemporal gait parameters. Copyright © 2017 Elsevier Ltd. All rights reserved.
Hemington, Kasey S; Cheng, Joshua C; Bosma, Rachael L; Rogachov, Anton; Kim, Junseok A; Davis, Karen D
2017-09-01
Resilience, a characteristic that enhances adaptation in response to stressful events, is a positive psychological factor that can predict and modulate health outcomes. However, resilience is rarely considered in pain research. Conversely, negative psychological factors (eg, anxiety, depression) are known to be related to the affective dimension of pain. It is critical to understand all potential psychological drivers of pain affect, a prominent component of chronic pain. We tested the hypothesis that higher resilience is associated with lower pain affect, above and beyond the predictive value of negative psychological factors. Healthy adults underwent psychophysical testing to acquire ratings of heat pain intensity and unpleasantness and completed the Resilience Scale, the State-Trait Anxiety Inventory (trait form), Beck Depression Inventory, Pain Catastrophizing Scale, and the Pain Vigilance and Attention Questionnaire. Multiple regression modeling (n = 68) showed resilience to be a negatively associated with pain affect (unpleasantness). Furthermore, in individuals with higher anxiety scores, resilience was protective against higher pain affect. This highlights the importance of resilience, a positive psychological factor, in the affective dimension of pain. This study is the first to assess a positive psychological factor and experimental pain affect, and has the potential to improve prediction of and treatment strategies for clinical pain. We report that resilience, a positive psychological factor, interacts with anxiety and is associated with heat pain affect (unpleasantness) in healthy individuals. Resilience may provide predictive value of chronic pain affect and treatment outcomes, and could be a target for behavioral therapy. Copyright © 2017 American Pain Society. Published by Elsevier Inc. All rights reserved.
Political violence, collective functioning and health: a review of the literature.
Sousa, Cindy A
2013-01-01
Political violence is implicated in a range of mental health outcomes, including PTSD, depression, and anxiety. The social and political contexts of people's lives, however, offer considerable protection from the mental health effects of political violence. In spite of the importance of people's social and political environments for health, there is limited scholarship on how political violence compromises necessary social and political systems and inhibits individuals from participating in social and political life. Drawing on literature from multiple disciplines, including public health, anthropology, and psychology, this narrative review uses a multi-level, social ecological framework to enhance current knowledge about the ways that political violence affects health. Findings from over 50 studies were analysed and used to build a conceptual model demonstrating how political violence threatens three inter-related domains of functioning: individual functioning in relationship to their environment; community functioning and social fabric; and governmental functioning and delivery of services to populations. Results illustrate the need for multilevel frameworks that move beyond individual pathology towards more nuanced conceptualizations about how political violence affects health; findings contribute to the development of prevention programmes addressing political violence.
Legagneux, Pierre; Harms, N Jane; Gauthier, Gilles; Chastel, Olivier; Gilchrist, H Grant; Bortolotti, Gary; Bêty, Joël; Soos, Catherine
2013-01-01
The effects of environmental perturbations or stressors on individual states can be carried over to subsequent life stages and ultimately affect survival and reproduction. The concentration of corticosterone (CORT) in feathers is an integrated measure of hypothalamic-pituitary-adrenal activity during the molting period, providing information on the total baseline and stress-induced CORT secreted during the period of feather growth. Common eiders and greater snow geese replace all flight feathers once a year during the pre-basic molt, which occurs following breeding. Thus, CORT contained in feathers of pre-breeding individuals sampled in spring reflects the total CORT secreted during the previous molting event, which may provide insight into the magnitude or extent of stress experienced during this time period. We used data from multiple recaptures to disentangle the contribution of individual quality vs. external factors (i.e., breeding investment or environmental conditions) on feather CORT in arctic-nesting waterfowl. Our results revealed no repeatability of feather CORT within individuals of either species. In common eiders, feather CORT was not affected by prior reproductive investment, nor by pre-breeding (spring) body condition prior to the molting period. Individual feather CORT greatly varied according to the year, and August-September temperatures explained most of the annual variation in feather CORT. Understanding mechanisms that affect energetic costs and stress responses during molting will require further studies either using long-term data or experiments. Although our study period encompassed only five years, it nonetheless provides evidence that CORT measured in feathers likely reflects responses to environmental conditions experienced by birds during molt, and could be used as a metric to study carry-over effects.
Individual Differences in Diabetes Risk: Role of Sleep Disturbances
2010-08-01
and have been shown by multiple groups, including us, to be affected by sleep deprivation. So far, we have indeed measured levels of leptin and ghrelin ...for leptin and ghrelin . The new procedure described below will cut these cost by 75%. This technology will also increase the scientific output of the...the manufacturer a custom supplied panel of assays that includes insulin, pancreatic polypeptide (PP), leptin, active ghrelin , as well as the two
Multiplicity of skin cancers in Queensland and their cost burden to government and patients.
Gordon, Louisa G; Elliott, Thomas M; Olsen, Catherine M; Pandeya, Nirmala; Whiteman, David C
2018-02-01
To determine the cost burden to government and patients for individuals with multiple skin cancers. We used self-reported baseline data on socio-demographics, phenotype and sun exposure behaviours from participants in the QSkin Sun and Health Study with at least one histopathologically confirmed keratinocyte cancer or melanoma (n=5,673). Linkage to Australian Medicare data (2011-2014) provided resource data and government and out-of-pocket patient costs. Generalised linear models examined costs by frequency of skin cancer groups separately for melanoma and keratinocyte cancer. Over three years, 539 participants were diagnosed with melanoma (11% had ≥2 melanomas) and 5,134 participants were treated for keratinocyte cancers (10% had ≥6). Median Medicare costs per person were $1,325 (maximum $6,117) for ≥2 melanomas and $2,126 (maximum $54,618) for ≥6 keratinocyte cancers. Increased costs were associated with private health insurance. Individuals who are multiply affected by skin cancers are relatively common and the accompanying individual and government cost burden can be substantial. These findings support skin cancer being classified as a chronic disease. Implications for public health: Over time, the economic burden for skin cancer for individuals and health providers is high and investment in prevention remains important from an economic viewpoint. © 2017 The Authors.
Hypothesis: neoplasms in myotonic dystrophy
Hilbert, James E.; Martens, William; Thornton, Charles A.; Moxley, Richard T.; Greene, Mark H.
2011-01-01
Tumorigenesis is a multi-step process due to an accumulation of genetic mutations in multiple genes in diverse pathways which ultimately lead to loss of control over cell growth. It is well known that inheritance of rare germline mutations in genes involved in tumorigenesis pathways confer high lifetime risk of neoplasia in affected individuals. Furthermore, a substantial number of multiple malformation syndromes include cancer susceptibility in their phenotype. Studies of the mechanisms underlying these inherited syndromes have added to the understanding of both normal development and the pathophysiology of carcinogenesis. Myotonic dystrophy (DM) represents a group of autosomal dominant, multisystemic diseases that share the clinical features of myotonia, muscle weakness, and early-onset cataracts. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) result from unstable nucleotide repeat expansions in their respective genes. There have been multiple reports of tumors in individuals with DM, most commonly benign calcifying cutaneous tumors known as pilomatricomas. We provide a summary of the tumors reported in DM and a hypothesis for a possible mechanism of tumorigenesis. We hope to stimulate further study into the potential role of DM genes in tumorigenesis, and help define DM pathogenesis, and facilitate developing novel treatment modalities. PMID:19642006
Daoud, Hussein; Zhang, Dong; McMurray, Fiona; Yu, Andrea; Luco, Stephanie M; Vanstone, Jason; Jarinova, Olga; Carson, Nancy; Wickens, James; Shishodia, Shifali; Choi, Hwanho; McDonough, Michael A; Schofield, Christopher J; Harper, Mary-Ellen; Dyment, David A; Armour, Christine M
2016-03-01
A homozygous loss-of-function mutation p.(Arg316Gln) in the fat mass and obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent oxygenase, was previously identified in a large family in which nine affected individuals present with a lethal syndrome characterised by growth retardation and multiple malformations. To date, no other pathogenic mutation in FTO has been identified as a cause of multiple congenital malformations. We investigated a 21-month-old girl who presented distinctive facial features, failure to thrive, global developmental delay, left ventricular cardiac hypertrophy, reduced vision and bilateral hearing loss. We performed targeted next-generation sequencing of 4813 clinically relevant genes in the patient and her parents. We identified a novel FTO homozygous missense mutation (c.956C>T; p.(Ser319Phe)) in the affected individual. This mutation affects a highly conserved residue located in the same functional domain as the previously characterised mutation p.(Arg316Gln). Biochemical studies reveal that p.(Ser319Phe) FTO has reduced 2-oxoglutarate turnover and N-methyl-nucleoside demethylase activity. Our findings are consistent with previous reports that homozygous mutations in FTO can lead to rare growth retardation and developmental delay syndrome, and further support the proposal that FTO plays an important role in early development of human central nervous and cardiovascular systems. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Genetic mapping and predictive testing for multiple endocrine neoplasia type 1 (MEN1)
DOE Office of Scientific and Technical Information (OSTI.GOV)
Pandit, S.D.; Read, C.; Liu, L.
1994-09-01
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with an estimated prevalance of 20-200 per million persons. It is characterized by the combined occurence of tumors involving two or more endocrine glands, namely the parathyroid glands, the endocrine pancreas and the anterior pituitary. This disorder affects virtually all age groups with an average range of 20-60 years. Linkage analysis mapped the MEN1 locus to 11q13 near the human muscle glycogen phosphorylase (PYGM) locus. Additional genetic mapping and deletion analysis studies have refined the region containing the MEN1 locus to a 3 cM interval flanked by markers PYGMmore » and D11S146/D11S97, a physical distance of approximately 1.5 Mb. We have identified 8 large families segregating MEN1 (71 affected from a population of 389 individuals). A high resolution reference map for the 11q13 region has been constructed using four new microsatellite markers, the CEPH reference (40 family) pedigree resource, and the CRI-MAP program package. Subsequent analyses using the LINKAGE program package and 8 MEN 1 families placed the MEN1 locus within the context of the microsatellite map. This map was used to develop a linkage-based predictive test. These markers have also been used to further refine the interval containing the MEN1 locus from the study of chromosome deletions (loss of heterozygosity, LOH studies) in paired sets of tumor and germline DNA from 87 MEN 1 affected individuals.« less
The impact of dynamic balance measures on walking performance in multiple sclerosis.
Fritz, Nora E; Marasigan, Rhul Evans R; Calabresi, Peter A; Newsome, Scott D; Zackowski, Kathleen M
2015-01-01
Static posture imbalance and gait dysfunction are common in individuals with multiple sclerosis (MS). Although the impact of strength and static balance on walking has been examined, the impact of dynamic standing balance on walking in MS remains unclear. To determine the impact of dynamic balance, static balance, sensation, and strength measures on walking in individuals with MS. Fifty-two individuals with MS (27 women; 26 relapsing-remitting; mean age = 45.6 ± 10.3 years; median Expanded Disability Status Scale score = 3.5) participated in posturography testing (Kistler-9281 force plate), hip flexion, hip extension, ankle dorsiflexion strength (Microfet2 hand-held dynamometer), sensation (Vibratron II), and walk velocity (Optotrak Motion Analysis System). Analyses included, Mann-Whitney, Spearman correlation coefficients, and multiple regression. All measures were abnormal in individuals with MS when compared with norms (P < .05). Static balance (eyes open, feet together [EOFT]), anterior-posterior (AP) dynamic sway, and hip extension strength were strongly correlated with walking velocity (AP sway r = 0.68; hip extension strength r = 0.73; EOFT r = -0.40). Together, AP dynamic sway (ρr = 0.71; P < .001), hip extension strength (ρr = 0.54; P < .001), and EOFT static balance (ρr = -0.41; P = .01) explained more than 70% of the variance in walking velocity (P < .001). AP dynamic sway affects walking performance in MS. A combined evaluation of dynamic balance, static balance, and strength may lead to a better understanding of walking mechanisms and the development of strategies to improve walking. © The Author(s) 2014.
Freeze-frame fruit selection by birds
Foster, Mercedes S.
2008-01-01
The choice of fruits by an avian frugivore is affected by choices it makes at multiple hierarchical levels (e.g., species of fruit, individual tree, individual fruit). Factors that influence those choices vary among levels in the hierarchy and include characteristics of the environment, the tree, and the fruit itself. Feeding experiments with wild-caught birds were conducted at El Tirol, Departamento de Itapua, Paraguay to test whether birds were selecting among individual fruits based on fruit size. Feeding on larger fruits, which have proportionally more pulp, is generally more efficient than feeding on small fruits. In trials (n = 56) with seven species of birds in four families, birds selected larger fruits 86% of the time. However, in only six instances were size differences significant, which is likely a reflection of small sample sizes.
Wang, Jia; Liu, Ru-De; Ding, Yi; Xu, Le; Liu, Ying; Zhen, Rui
2017-01-01
Previous studies have highlighted the impacts of environmental factors (teacher’s autonomy support) and individual factors (self-efficacy, intrinsic value, and boredom) on academic engagement. This study aimed to investigate these variables and examine the relations among them. Three structural equation models tested the multiple mediational roles of self-efficacy, intrinsic value, and boredom in the relation between teacher’s autonomy support and behavioral, emotional, and cognitive engagement, respectively, in math. A total of 637 Chinese middle school students (313 males, 324 females; mean age = 14.82) voluntarily participated in this study. Results revealed that self-efficacy, intrinsic value, and boredom played important and mediating roles between perceived teacher’s autonomy support and student engagement. Specifically, these three individual variables partly mediated the relations between perceived teacher’s autonomy support and behavioral and cognitive engagement, while fully mediating the relation between perceived teacher’s autonomy support and emotional engagement. These findings complement and extend the understanding of factors affecting students’ engagement in math. PMID:28690560
NASA Astrophysics Data System (ADS)
Li, Weihua; Tang, Shaoting; Fang, Wenyi; Guo, Quantong; Zhang, Xiao; Zheng, Zhiming
2015-10-01
The information diffusion process in single complex networks has been extensively studied, especially for modeling the spreading activities in online social networks. However, individuals usually use multiple social networks at the same time, and can share the information they have learned from one social network to another. This phenomenon gives rise to a new diffusion process on multiplex networks with more than one network layer. In this paper we account for this multiplex network spreading by proposing a model of information diffusion in two-layer multiplex networks. We develop a theoretical framework using bond percolation and cascading failure to describe the intralayer and interlayer diffusion. This allows us to obtain analytical solutions for the fraction of informed individuals as a function of transmissibility T and the interlayer transmission rate θ . Simulation results show that interaction between layers can greatly enhance the information diffusion process. And explosive diffusion can occur even if the transmissibility of the focal layer is under the critical threshold, due to interlayer transmission.
Wang, Jia; Liu, Ru-De; Ding, Yi; Xu, Le; Liu, Ying; Zhen, Rui
2017-01-01
Previous studies have highlighted the impacts of environmental factors (teacher's autonomy support) and individual factors (self-efficacy, intrinsic value, and boredom) on academic engagement. This study aimed to investigate these variables and examine the relations among them. Three structural equation models tested the multiple mediational roles of self-efficacy, intrinsic value, and boredom in the relation between teacher's autonomy support and behavioral, emotional, and cognitive engagement, respectively, in math. A total of 637 Chinese middle school students (313 males, 324 females; mean age = 14.82) voluntarily participated in this study. Results revealed that self-efficacy, intrinsic value, and boredom played important and mediating roles between perceived teacher's autonomy support and student engagement. Specifically, these three individual variables partly mediated the relations between perceived teacher's autonomy support and behavioral and cognitive engagement, while fully mediating the relation between perceived teacher's autonomy support and emotional engagement. These findings complement and extend the understanding of factors affecting students' engagement in math.
Attention to Multiple Objects Facilitates Their Integration in Prefrontal and Parietal Cortex.
Kim, Yee-Joon; Tsai, Jeffrey J; Ojemann, Jeffrey; Verghese, Preeti
2017-05-10
Selective attention is known to interact with perceptual organization. In visual scenes, individual objects that are distinct and discriminable may occur on their own, or in groups such as a stack of books. The main objective of this study is to probe the neural interaction that occurs between individual objects when attention is directed toward one or more objects. Here we record steady-state visual evoked potentials via electrocorticography to directly assess the responses to individual stimuli and to their interaction. When human participants attend to two adjacent stimuli, prefrontal and parietal cortex shows a selective enhancement of only the neural interaction between stimuli, but not the responses to individual stimuli. When only one stimulus is attended, the neural response to that stimulus is selectively enhanced in prefrontal and parietal cortex. In contrast, early visual areas generally manifest responses to individual stimuli and to their interaction regardless of attentional task, although a subset of the responses is modulated similarly to prefrontal and parietal cortex. Thus, the neural representation of the visual scene as one progresses up the cortical hierarchy becomes more highly task-specific and represents either individual stimuli or their interaction, depending on the behavioral goal. Attention to multiple objects facilitates an integration of objects akin to perceptual grouping. SIGNIFICANCE STATEMENT Individual objects in a visual scene are seen as distinct entities or as parts of a whole. Here we examine how attention to multiple objects affects their neural representation. Previous studies measured single-cell or fMRI responses and obtained only aggregate measures that combined the activity to individual stimuli as well as their potential interaction. Here, we directly measure electrocorticographic steady-state responses corresponding to individual objects and to their interaction using a frequency-tagging technique. Attention to two stimuli increases the interaction component that is a hallmark for perceptual integration of stimuli. Furthermore, this stimulus-specific interaction is represented in prefrontal and parietal cortex in a task-dependent manner. Copyright © 2017 the authors 0270-6474/17/374942-12$15.00/0.
Local responses to trauma: symptom, affect, and healing.
Hinton, Devon E; Kirmayer, Laurence J
2013-10-01
This article provides an introduction to the thematic issue of Transcultural Psychiatry on local responses to trauma. To illustrate how local responses to trauma may be therapeutic, we consider the multiple dimensions or domains that may be targeted by healing rituals and interventions. We then outline a theoretical model of the generation of trauma-related symptoms and distress. We present the multiplex model of symptom generation which posits multiple cognitive, social, and physiological mechanisms by which various triggers can lead to severe distress among trauma victims in acute episodes, and which may be targeted in treatment. More persistent forms of distress can be explained in terms of the effects of persistent mood states and associated modes of cognitive processing and behavior that render individuals vulnerable to chronic symptoms and acute exacerbations. The beneficial effects of healing rituals and interventions may occur, in part, by inducing positive affective states associated with a flexible mind-set. We conclude by summarizing some of the contributions of the papers in this issue to understanding local therapeutic processes of healing.
Racism and Health I: Pathways and Scientific Evidence.
Williams, David R; Mohammed, Selina A
2013-08-01
This article reviews the scientific research that indicates that despite marked declines in public support for negative racial attitudes in the United States, racism, in its multiple forms, remains embedded in American society. The focus of the article is on the review of empirical research that suggests that racism adversely affects the health of non-dominant racial populations in multiple ways. First, institutional racism developed policies and procedures that have reduced access to housing, neighborhood and educational quality, employment opportunities and other desirable resources in society. Second, cultural racism, at the societal and individual level, negatively affects economic status and health by creating a policy environment hostile to egalitarian policies, triggering negative stereotypes and discrimination that are pathogenic and fostering health damaging psychological responses such as stereotype threat and internalized racism. Finally, a large and growing body of evidence indicates that experiences of racial discrimination are an important type of psychosocial stressor that can lead to adverse changes in health status and altered behavioural patterns that increase health risks.
Racism and Health I: Pathways and Scientific Evidence
Williams, David R.; Mohammed, Selina A.
2013-01-01
This article reviews the scientific research that indicates that despite marked declines in public support for negative racial attitudes in the United States, racism, in its multiple forms, remains embedded in American society. The focus of the article is on the review of empirical research that suggests that racism adversely affects the health of non-dominant racial populations in multiple ways. First, institutional racism developed policies and procedures that have reduced access to housing, neighborhood and educational quality, employment opportunities and other desirable resources in society. Second, cultural racism, at the societal and individual level, negatively affects economic status and health by creating a policy environment hostile to egalitarian policies, triggering negative stereotypes and discrimination that are pathogenic and fostering health damaging psychological responses such as stereotype threat and internalized racism. Finally, a large and growing body of evidence indicates that experiences of racial discrimination are an important type of psychosocial stressor that can lead to adverse changes in health status and altered behavioural patterns that increase health risks. PMID:24347666
Depression and Genetic Causal Attribution of Epilepsy in Multiplex Epilepsy Families
Sorge, Shawn T.; Hesdorffer, Dale C.; Phelan, Jo C.; Winawer, Melodie R.; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K.; Ottman, Ruth
2016-01-01
Summary Objectives Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients’ psychological responses and coping strategies, but little is currently known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause among members of families containing multiple individuals with epilepsy. Methods A self-administered survey was completed by 417 individuals in 104 families averaging four individuals with epilepsy per family. Current depression was measured with the PHQ-9. Genetic causal attribution was assessed by three questions addressing: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual’s epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Results Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biological relatives without epilepsy, and 3.9% in 51 married-in individuals. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biological relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p=0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Significance Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing multiple affected individuals. This association should be considered when addressing mental health issues in such families. PMID:27558297
Self Organized Sorting in Swarms
NASA Astrophysics Data System (ADS)
Copenhagen, Katherine; Quint, David; Gopinathan, Ajay
2014-03-01
Swarming behavior extends across multiple length scales in biology ranging from bacteria to whales. Natural swarms are affected by erratic, or dissenting behavior by individuals within the swarm who may display different types of behaviors than the rest of the swarm. This research investigates the introduction of heterogenous behavior amongst individuals within a swarm and their impact on swarm formation and robustness. We model swarms with a finite number of agents utilizing a velocity alignment interaction and a Lennard-Jones potential, which provides both cohesive and repulsive interactions between neighboring agents. Depending on the parameters governing the swarming interactions and the level of heterogeneity in behavior introduced, we found a variety of collective behavior including sharp transitions from swarming to non-swarming regimes and self organized sorting of individuals based on their types of behavior. Our research sheds light on the varied responses of swarms to internal dissent and suggests optimal strategies to tolerate errant individuals.
The Simple Rules of Social Contagion
Hodas, Nathan O.; Lerman, Kristina
2014-01-01
It is commonly believed that information spreads between individuals like a pathogen, with each exposure by an informed friend potentially resulting in a naive individual becoming infected. However, empirical studies of social media suggest that individual response to repeated exposure to information is far more complex. As a proxy for intervention experiments, we compare user responses to multiple exposures on two different social media sites, Twitter and Digg. We show that the position of exposing messages on the user-interface strongly affects social contagion. Accounting for this visibility significantly simplifies the dynamics of social contagion. The likelihood an individual will spread information increases monotonically with exposure, while explicit feedback about how many friends have previously spread it increases the likelihood of a response. We provide a framework for unifying information visibility, divided attention, and explicit social feedback to predict the temporal dynamics of user behavior. PMID:24614301
Tremblay, Raymond L.; Ackerman, James D.; Pérez, Maria-Eglée
2010-01-01
Evolutionary models estimating phenotypic selection in character size usually assume that the character is invariant across reproductive bouts. We show that variation in the size of reproductive traits may be large over multiple events and can influence fitness in organisms where these traits are produced anew each season. With data from populations of two orchid species, Caladenia valida and Tolumnia variegata, we used Bayesian statistics to investigate the effect on the distribution in fitness of individuals when the fitness landscape is not flat and when characters vary across reproductive bouts. Inconsistency in character size across reproductive periods within an individual increases the uncertainty of mean fitness and, consequently, the uncertainty in individual fitness. The trajectory of selection is likely to be muddled as a consequence of variation in morphology of individuals across reproductive bouts. The frequency and amplitude of such changes will certainly affect the dynamics between selection and genetic drift. PMID:20047875
7 CFR 795.6 - Multiple individuals or other entities.
Code of Federal Regulations, 2010 CFR
2010-01-01
... 7 Agriculture 7 2010-01-01 2010-01-01 false Multiple individuals or other entities. 795.6 Section... Multiple individuals or other entities. The rules in §§ 795.5 through 795.16 shall be used to determine whether certain multiple individuals or legal entities are to be treated as one person or as separate...
Tan, Ken; Hu, Zongwen; Chen, Weiwen; Wang, Zhengwei; Wang, Yuchong; Nieh, James C.
2013-01-01
Fear can have strong ecosystem effects by giving predators a role disproportionate to their actual kill rates. In bees, fear is shown through foragers avoiding dangerous food sites, thereby reducing the fitness of pollinated plants. However, it remains unclear how fear affects pollinators in a complex natural scenario involving multiple predator species and different patch qualities. We studied hornets, Vespa velutina (smaller) and V. tropica (bigger) preying upon the Asian honey bee, Apis cerana in China. Hornets hunted bees on flowers and were attacked by bee colonies. Bees treated the bigger hornet species (which is 4 fold more massive) as more dangerous. It received 4.5 fold more attackers than the smaller hornet species. We tested bee responses to a three-feeder array with different hornet species and varying resource qualities. When all feeders offered 30% sucrose solution (w/w), colony foraging allocation, individual visits, and individual patch residence times were reduced according to the degree of danger. Predator presence reduced foraging visits by 55–79% and residence times by 17–33%. When feeders offered different reward levels (15%, 30%, or 45% sucrose), colony and individual foraging favored higher sugar concentrations. However, when balancing food quality against multiple threats (sweeter food corresponding to higher danger), colonies exhibited greater fear than individuals. Colonies decreased foraging at low and high danger patches. Individuals exhibited less fear and only decreased visits to the high danger patch. Contrasting individual with emergent colony-level effects of fear can thus illuminate how predators shape pollination by social bees. PMID:24098734
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Granados, Andrea; Alaniz, Veronica I; Mohnach, Lauren; Barseghyan, Hayk; Vilain, Eric; Ostrer, Harry; Quint, Elisabeth H; Chen, Ming; Keegan, Catherine E
2017-06-01
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a MAP3K1 variant should prompt an evaluation for DSD in female siblings of the proband. © 2017 Wiley Periodicals, Inc.
Individual and combined effects of multiple pathogens on Pacific treefrogs.
Romansic, John M; Johnson, Pieter T J; Searle, Catherine L; Johnson, James E; Tunstall, Tate S; Han, Barbara A; Rohr, Jason R; Blaustein, Andrew R
2011-08-01
In nature, individual hosts often encounter multiple pathogens simultaneously, which can lead to additive, antagonistic, or synergistic effects on hosts. Synergistic effects on infection prevalence or severity could greatly affect host populations. However, ecologists and managers often overlook the influence of pathogen combinations on hosts. This is especially true in amphibian conservation, even though multiple pathogens coexist within amphibian populations, and several pathogens have been implicated in amphibian population declines and extinctions. Using an amphibian host, Pseudacris regilla (Pacific treefrog), we experimentally investigated interactive effects among three pathogens: the trematode Ribeiroia sp. (hereafter, Ribeiroia), the fungus Batrachochytrium dendrobatidis (hereafter, BD), and the water mold Achlya flagellata. We detected no effects of A. flagellata, but did find effects of Ribeiroia and BD that varied depending on context. Low doses of Ribeiroia caused relatively few malformations, while higher Ribeiroia doses caused numerous deformities dominated by missing and reduced limbs and limb elements. Exposure to low doses of BD accelerated larval host development, despite there being no detectable BD infections, while exposure to higher BD doses caused infection but did not alter developmental rate. Hosts exposed to both Ribeiroia and BD exhibited the highest mortality, although overall evidence of interactive effects of multiple pathogens was limited. We suggest further research on the influence of multi-pathogen assemblages on amphibians, particularly under a variety of ecological conditions and with a wider diversity of hosts and pathogens.
2015-03-01
known as concussions ) affect ~1.3 million individuals in the US annually mostly during contact sports such as boxing, hockey, and football [1, 2]. In...disorder which has been observed in several athletes with a history of multiple concussions . In particular, phosphorylated Tau (pTau) protein...Accreditation of Laboratory Animal Care International. References [1] Laker SR. Epidemiology of concussion and mild traumatic brain injury. PM R
Assessment of anorexia nervosa in children and adolescents.
Weaver, Laurel; Liebman, Ronald
2011-04-01
Anorexia nervosa is a debilitating illness that affects mostly females and their families. Multiple physiologic disturbances are present and can be life-threatening. Nutritional rehabilitation is the foremost initial treatment goal. Assessment skills include understanding the physiologic, developmental, and psychiatric status of the individual as well as engagement of the family system. A comprehensive assessment that stimulates patient and family to successfully engage in treatment is the cornerstone of good clinical care for this highly disabling disorder.
The affect of tissue depth variation on craniofacial reconstructions.
Starbuck, John M; Ward, Richard E
2007-10-25
We examined the affect of tissue depth variation on the reconstruction of facial form, through the application of the American method, utilizing published tissue depth measurements for emaciated, normal, and obese faces. In this preliminary study, three reconstructions were created on reproductions of the same skull for each set of tissue depth measurements. The resulting morphological variation was measured quantitatively using the anthropometric craniofacial variability index (CVI). This method employs 16 standard craniofacial anthropometric measurements and the results reflect "pattern variation" or facial harmony. We report no appreciable variation in the quantitative measure of the pattern facial form obtained from the three different sets of tissue depths. Facial similarity was assessed qualitatively utilizing surveys of photographs of the three reconstructions. Surveys indicated that subjects frequently perceived the reconstructions as representing different individuals. This disagreement indicates that size of the face may blind observers to similarities in facial form. This research is significant because it illustrates the confounding effect that normal human variation contributes in the successful recognition of individuals from a representational three-dimensional facial reconstruction. Research results suggest that successful identification could be increased if multiple reconstructions were created which reflect a wide range of possible outcomes for facial form. The creation of multiple facial images, from a single skull, will be facilitated as computerized versions of facial reconstruction are further developed and refined.
Marie-Orleach, Lucas; Vogt-Burri, Nadja; Mouginot, Pierick; Schlatter, Aline; Vizoso, Dita B; Bailey, Nathan W; Schärer, Lukas
2017-05-01
The expression of an individual's phenotypic traits can be influenced by genes expressed in its social partners. Theoretical models predict that such indirect genetic effects (IGEs) on reproductive traits should play an important role in determining the evolutionary outcome of sexual conflict. However, empirical tests of (i) whether reproductive IGEs exist, (ii) how they vary among genotypes, and (iii) whether they are uniform for different types of reproductive traits are largely lacking. We addressed this in a series of experiments in the simultaneously hermaphroditic flatworm Macrostomum lignano. We found strong evidence for IGEs on both morphological and behavioral reproductive traits. Partner genotype had a significant impact on the testis size of focal individuals-varying up to 2.4-fold-suggesting that IGEs could mediate sexual conflicts that target the male sex function. We also found that time to first copulation was affected by a genotype × genotype interaction between mating partners, and that partner genotype affected the propensity to copulate and perform the postcopulatory suck behavior, which may mediate conflicts over the fate of received ejaculate components. These findings provide clear empirical evidence for IGEs on multiple behavioral and morphological reproductive traits, which suggests that the evolutionary dynamics of these traits could be altered by genes contained in the social environment. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.
Sustaining employment after vocational rehabilitation in acquired brain injury.
Macaden, Ashish Stephen; Chandler, Barbara J; Chandler, Colin; Berry, Alister
2010-01-01
To explore factors affecting sustaining employment in people with acquired brain injury (ABI). A multiple case study approach using semi-structured interviews in eight cases (29 individuals). Each case included an individual with ABI, a family member, a job coach and a co-worker (triangulation). The eight individuals with ABI had completed vocational rehabilitation and were purposely selected based on whether they had sustained employment (4) or not (4). Similarity between pre-injury work or leisure interest and post-injury work, unconditional motivation, insight and the ability to cope with cognitive and behavioural sequelae were beneficial in sustaining employment. Post-injury instances of poor cognitive or behavioural function did not necessarily affect sustained employment. The vocational rehabilitation programme was beneficial in building up confidence, providing continued follow up and providing co-worker 'twins' in the work place. Employers with a personal experience of disability helped individuals with ABI to sustain employment. Similarities between pre-injury work or leisure interests and post-injury work improved motivation. Factors associated with sustained employment were insightful, unconditional, internal motivation providing an ability to cope, confidence provided by ongoing vocational rehabilitation support through job coaches, supportive co-workers and employers with a personal experience of disability. People with ABI can be outstanding employees.
Medical marijuana: legal considerations.
Schouten, J T
1999-01-01
In 1998, Washington State passed a law, Initiative 692 (I-692), that gives individuals who are charged with possession of marijuana for medical purposes a possible affirmative defense. The law lets these individuals provide a note from their doctor or a copy of their medical records stating they have a condition that may benefit from the use of marijuana. I-692 does not legalize the medical use of marijuana and does not affect Federal law, which makes obtaining, possessing, and growing marijuana illegal. The Washington law limits the amount of marijuana a patient can possess to a 60-day supply and defines the conditions for which medical marijuana may be used. These conditions include HIV, cancer, multiple sclerosis, and epilepsy.
Fractional populations in multiple gene inheritance.
Chung, Myung-Hoon; Kim, Chul Koo; Nahm, Kyun
2003-01-22
With complete knowledge of the human genome sequence, one of the most interesting tasks remaining is to understand the functions of individual genes and how they communicate. Using the information about genes (locus, allele, mutation rate, fitness, etc.), we attempt to explain population demographic data. This population evolution study could complement and enhance biologists' understanding about genes. We present a general approach to study population genetics in complex situations. In the present approach, multiple allele inheritance, multiple loci inheritance, natural selection and mutations are allowed simultaneously in order to consider a more realistic situation. A simulation program is presented so that readers can readily carry out studies with their own parameters. It is shown that the multiplicity of the loci greatly affects the demographic results of fractional population ratios. Furthermore, the study indicates that some high infant mortality rates due to congenital anomalies can be attributed to multiple loci inheritance. The simulation program can be downloaded from http://won.hongik.ac.kr/~mhchung/index_files/yapop.htm. In order to run this program, one needs Visual Studio.NET platform, which can be downloaded from http://msdn.microsoft.com/netframework/downloads/default.asp.
Bryan, Craig J
2013-06-01
Considerable research indicates that sleep disturbances and insomnia are more common and severe among individuals following a traumatic brain injury (TBI). It remains unclear, however, how the experience of multiple TBIs affect sleep disturbances and insomnia. The current study investigated the incidence and severity of insomnia and sleep complaints among active-duty military personnel who have sustained multiple TBIs. Upon intake at a military TBI clinic located in Iraq, 150 male military patients completed standardized self-report measures and clinical interviews. Patients were categorized into three groups according to history of TBI: zero TBIs (n = 18), single TBI (n = 54), multiple TBIs (n = 78). Rates of clinical insomnia significantly increased across TBI groups (P < 0.001):- 5.6% for no TBIs, 20.4% for single TBI, and 50.0% for multiple TBIs. Insomnia severity significantly increased across TBI groups even when controlling for depression, posttraumatic stress disorder, and concussion symptom severity (B = 1.134, standard error = 0.577, P = 0.049). Multiple TBIs are associated with increased risk for and severity of sleep disturbance among male military personnel.
The utility of multiple synthesized views in the recognition of unfamiliar faces.
Jones, Scott P; Dwyer, Dominic M; Lewis, Michael B
2017-05-01
The ability to recognize an unfamiliar individual on the basis of prior exposure to a photograph is notoriously poor and prone to errors, but recognition accuracy is improved when multiple photographs are available. In applied situations, when only limited real images are available (e.g., from a mugshot or CCTV image), the generation of new images might provide a technological prosthesis for otherwise fallible human recognition. We report two experiments examining the effects of providing computer-generated additional views of a target face. In Experiment 1, provision of computer-generated views supported better target face recognition than exposure to the target image alone and equivalent performance to that for exposure of multiple photograph views. Experiment 2 replicated the advantage of providing generated views, but also indicated an advantage for multiple viewings of the single target photograph. These results strengthen the claim that identifying a target face can be improved by providing multiple synthesized views based on a single target image. In addition, our results suggest that the degree of advantage provided by synthesized views may be affected by the quality of synthesized material.
Lenz, Bernard N.; Rheaume, S.J.
2000-01-01
This report describes the variability in family-level benthic-invertebrate population data and the reliability of the data as a water-quality indicator for 11 fixed surface-water sites in the Western Lake Michigan Drainages study area of the National Water-Quality Assessment Program. Benthic-invertebrate-community measures were computed for the following: number of individuals, Hilsenhoff’s Family-Level Biotic Index, number and percent EPT (Ephemeroptera, Plecoptera, and Tricoptera), Margalef’s Diversity Index, and mean tolerance value. Relations between these measures and environmental setting, habitat, and of chemical water quality are examined. Benthic-invertebrate communities varied greatly among fixed sites and within individual streams among multiple-reach and multiple-year sampling. The variations between multiple reaches and years were sometimes larger than those found between different fixed sites. Factors affecting benthic invertebrates included both habitat and chemical quality. Generally, fixed-site streams with the highest diversity, greatest number of benthic invertebrates, and those at which community measures indicated the best water quality also had the best habitat and chemical quality. Variations among reaches are most likely related to differences in habitat. Variations among years are most likely related to climatic changes, which create variations in flow and/or chemical quality. The variability in the data analyzed in this study shows how benthic invertebrates are affected by differences in both habitat and water quality, making them useful indicators of stream health; however, a single benthic-invertebrate sample alone cannot be relied upon to accurately describe water quality of the streams in this study. Benthic-invertebrate data contributed valuable information on the biological health of the 11 fixed sites when used as one of several data sources for assessing water quality.
BDNF val66met polymorphism affects aging of multiple types of memory.
Kennedy, Kristen M; Reese, Elizabeth D; Horn, Marci M; Sizemore, April N; Unni, Asha K; Meerbrey, Michael E; Kalich, Allan G; Rodrigue, Karen M
2015-07-01
The BDNF val66met polymorphism (rs6265) influences activity-dependent secretion of brain-derived neurotrophic factor in the synapse, which is crucial for learning and memory. Individuals homozygous or heterozygous for the met allele have lower BDNF secretion than val homozygotes and may be at risk for reduced declarative memory performance, but it remains unclear which types of declarative memory may be affected and how aging of memory across the lifespan is impacted by the BDNF val66met polymorphism. This cross-sectional study investigated the effects of BDNF polymorphism on multiple indices of memory (item, associative, prospective, subjective complaints) in a lifespan sample of 116 healthy adults aged 20-93 years. Advancing age showed a negative effect on item, associative and prospective memory, but not on subjective memory complaints. For item and prospective memory, there were significant age×BDNF group interactions, indicating the adverse effect of age on memory performance across the lifespan was much stronger in the BDNF met carriers than for the val homozygotes. BDNF met carriers also endorsed significantly greater subjective memory complaints, regardless of age, and showed a trend (p<.07) toward poorer associative memory performance compared to val homozygotes. These results suggest that genetic predisposition to the availability of brain-derived neurotrophic factor, by way of the BDNF val66met polymorphism, exerts an influence on multiple indices of episodic memory - in some cases in all individuals regardless of age (subjective memory and perhaps associative memory), in others as an exacerbation of age-related differences in memory across the lifespan (item and prospective memory). This article is part of a Special Issue entitled Memory & Aging. Copyright © 2014 Elsevier B.V. All rights reserved.
Pharmacogenomics of antimicrobial agents
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
Tarzian, Anita J; Neal, Maggie T; O'Neil, J Anne
2005-02-01
Individuals who are homeless may encounter various barriers to obtaining quality end-of-life (EOL) care, including access barriers, multiple sources of discrimination, and lack of knowledge among health care providers (HCPs) of their preferences and decision-making practices. Planning for death with individuals who have spent so much energy surviving requires an understanding of their experiences and preferences. This study sought to increase HCPs' awareness and understanding of homeless or similarly marginalized individuals' EOL experiences and treatment preferences. Focus groups were conducted with homeless individuals using a semi-structured interview guide to elicit participants' EOL experiences, decision-making practices, and personal treatment preferences. Five focus groups were conducted with 20 inner-city homeless individuals (4 per group) at a free urban health care clinic for homeless individuals in the United States. Sixteen of the 20 participants were African American; 4 were Caucasian. None were actively psychotic. All had experienced multiple losses and drug addiction. Five main themes emerged: valuing an individual's wishes; acknowledging emotions; the primacy of religious beliefs and spiritual experience; seeking relationship-centered care; and reframing advance care planning. The narrative process of this qualitative study uncovered an approach to EOL decision-making in which participants' reasoning was influenced by emotions, religious beliefs, and spiritual experience. Relationship-centered care, characterized by compassion and respectful, two-way communication, was obvious by its described absence--reasons for this are discussed. Recommendations for reframing advance care planning include ways for HCPs to transform advance care planning from that of a legal document to a process of goal-setting that is grounded in human connection, respect, and understanding.
An improved null model for assessing the net effects of multiple stressors on communities.
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.
Liu, Hesheng; Stufflebeam, Steven M; Sepulcre, Jorge; Hedden, Trey; Buckner, Randy L
2009-12-01
Cerebral lateralization is a fundamental property of the human brain and a marker of successful development. Here we provide evidence that multiple mechanisms control asymmetry for distinct brain systems. Using intrinsic activity to measure asymmetry in 300 adults, we mapped the most strongly lateralized brain regions. Both men and women showed strong asymmetries with a significant, but small, group difference. Factor analysis on the asymmetric regions revealed 4 separate factors that each accounted for significant variation across subjects. The factors were associated with brain systems involved in vision, internal thought (the default network), attention, and language. An independent sample of right- and left-handed individuals showed that hand dominance affects brain asymmetry but differentially across the 4 factors supporting their independence. These findings show the feasibility of measuring brain asymmetry using intrinsic activity fluctuations and suggest that multiple genetic or environmental mechanisms control cerebral lateralization.
Arashiro, Patricia; Eisenberg, Iris; Kho, Alvin T.; Cerqueira, Antonia M. P.; Canovas, Marta; Silva, Helga C. A.; Pavanello, Rita C. M.; Verjovski-Almeida, Sergio; Kunkel, Louis M.; Zatz, Mayana
2009-01-01
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35. FSHD is characterized by a wide clinical inter- and intrafamilial variability, ranging from wheelchair-bound patients to asymptomatic carriers. Our study is unique in comparing the gene expression profiles from related affected, asymptomatic carrier, and control individuals. Our results suggest that the expression of genes on chromosome 4q is altered in affected and asymptomatic individuals. Remarkably, the changes seen in asymptomatic samples are largely in products of genes encoding several chemokines, whereas the changes seen in affected samples are largely in genes governing the synthesis of GPI-linked proteins and histone acetylation. Besides this, the affected patient and related asymptomatic carrier share the 4qA161 haplotype. Thus, these polymorphisms by themselves do not explain the pathogenicity of the contracted allele. Interestingly, our results also suggest that the miRNAs might mediate the regulatory network in FSHD. Together, our results support the previous evidence that FSHD may be caused by transcriptional dysregulation of multiple genes, in cis and in trans, and suggest some factors potentially important for FSHD pathogenesis. The study of the gene expression profiles from asymptomatic carriers and related affected patients is a unique approach to try to enhance our understanding of the missing link between the contraction in D4Z4 repeats and muscle disease, while minimizing the effects of differences resulting from genetic background. PMID:19339494
Sliding into happiness: A new tool for measuring affective responses to words
Warriner, Amy Beth; Shore, David I.; Schmidt, Louis A.; Imbault, Constance L.; Kuperman, Victor
2016-01-01
Reliable measurement of affective responses is critical for research into human emotion. Affective evaluation of words is most commonly gauged on multiple dimensions—including valence (positivity) and arousal—using a rating scale. Despite its popularity, this scale is open to criticism: it generates ordinal data that is often misinterpreted as interval, it does not provide the fine resolution that is essential by recent theoretical accounts of emotion, and its extremes may not be properly calibrated. In five experiments, we introduce a new slider tool for affective evaluation of words on a continuous, well-calibrated and high-resolution scale. In Experiment 1, participants were shown a word and asked to move a manikin representing themselves closer to or farther away from the word. The manikin’s distance from the word strongly correlated with the word’s valence. In Experiment 2, individual differences in shyness and sociability elicited reliable differences in distance from the words. Experiment 3 validated the results of Experiments 1 and 2 using a demographically more diverse population of responders. Finally, Experiment 4 (along with Experiment 2) suggested that task demand is not a potential cause for scale recalibration. In Experiment 5, men and women placed a manikin closer or farther from words that showed sex differences in valence, highlighting the sensitivity of this measure to group differences. These findings shed a new light on interactions among affect, language, and individual differences, and demonstrate the utility of a new tool for measuring word affect. PMID:28252996
Finan, Patrick H; Quartana, Phillip J; Smith, Michael T
2013-06-01
This study investigated whether daily and laboratory assessed pain differs as a function of the temporal stability and valence of affect in individuals with chronic knee osteoarthritis (KOA). One hundred fifty-one men and women with KOA completed 14 days of electronic diaries assessing positive affect (PA), negative affect (NA), and clinical pain. A subset of participants (n =79) engaged in quantitative sensory testing (QST). State PA and NA were assessed prior to administration of stimuli that induced suprathreshold pain and temporal summation. Multilevel modeling and multiple regression evaluated associations of affect and pain as a function of valence (i.e., positive versus negative) and stability (i.e., stable versus state). In the diary, stable NA (B = -.63, standard error [SE] = .13, p < .001) was a stronger predictor of clinical KOA pain than stable PA (B = -.18, SE = .11, p = .091), and state PA (B = -.09, p < .001) was a stronger predictor of concurrent daily clinical pain than state NA (B = .04, SE = .02, p = .068). In the laboratory, state PA (B = -.05, SE = .02, p = .042), but not state NA (p = .46), predicted diminished temporal summation of mechanical pain. Stable NA is more predictive of clinical pain than stable PA, whereas state PA is more predictive of both clinical and laboratory pain than state NA. The findings suggest that dynamic affect-pain processes in the field may reflect individual differences in central pain facilitation.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
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.
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Leppa, Virpi M; Kravitz, Stephanie N; Martin, Christa Lese; Andrieux, Joris; Le Caignec, Cedric; Martin-Coignard, Dominique; DyBuncio, Christina; Sanders, Stephan J; Lowe, Jennifer K; Cantor, Rita M; Geschwind, Daniel H
2016-09-01
Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Born with an ear for dialects? Structural plasticity in the expert phonetician brain.
Golestani, Narly; Price, Cathy J; Scott, Sophie K
2011-03-16
Are experts born with particular predispositions, or are they made through experience? We examined brain structure in expert phoneticians, individuals who are highly trained to analyze and transcribe speech. We found a positive correlation between the size of left pars opercularis and years of phonetic transcription training experience, illustrating how learning may affect brain structure. Phoneticians were also more likely to have multiple or split left transverse gyri in the auditory cortex than nonexpert controls, and the amount of phonetic transcription training did not predict auditory cortex morphology. The transverse gyri are thought to be established in utero; our results thus suggest that this gross morphological difference may have existed before the onset of phonetic training, and that its presence confers an advantage of sufficient magnitude to affect career choices. These results suggest complementary influences of domain-specific predispositions and experience-dependent brain malleability, influences that likely interact in determining not only how experience shapes the human brain but also why some individuals become engaged by certain fields of expertise.
A Sensitive and Specific Neural Signature for Picture-Induced Negative Affect
Chang, Luke J.; Gianaros, Peter J.; Manuck, Stephen B.; Krishnan, Anjali; Wager, Tor D.
2015-01-01
Neuroimaging has identified many correlates of emotion but has not yet yielded brain representations predictive of the intensity of emotional experiences in individuals. We used machine learning to identify a sensitive and specific signature of emotional responses to aversive images. This signature predicted the intensity of negative emotion in individual participants in cross validation (n =121) and test (n = 61) samples (high–low emotion = 93.5% accuracy). It was unresponsive to physical pain (emotion–pain = 92% discriminative accuracy), demonstrating that it is not a representation of generalized arousal or salience. The signature was comprised of mesoscale patterns spanning multiple cortical and subcortical systems, with no single system necessary or sufficient for predicting experience. Furthermore, it was not reducible to activity in traditional “emotion-related” regions (e.g., amygdala, insula) or resting-state networks (e.g., “salience,” “default mode”). Overall, this work identifies differentiable neural components of negative emotion and pain, providing a basis for new, brain-based taxonomies of affective processes. PMID:26098873
Individual and Neighborhood Stressors, Air Pollution and Cardiovascular Disease
Hazlehurst, Marnie F.; Nurius, Paula S.; Hajat, Anjum
2018-01-01
Psychosocial and environmental stress exposures across the life course have been shown to be relevant in the development of cardiovascular disease (CVD). Assessing more than one stressor from different domains (e.g., individual and neighborhood) and across the life course moves us towards a more integrated picture of how stress affects health and well-being. Furthermore, these individual and neighborhood psychosocial stressors act on biologic pathways, including immune function and inflammatory response, which are also impacted by ubiquitous environmental exposures such as air pollution. The objective of this study is to evaluate the interaction between psychosocial stressors, at both the individual and neighborhood level, and air pollution on CVD. This study used data from the 2009–2011 Behavioral Risk Factor Surveillance System (BRFSS) from Washington State. Adverse childhood experiences (ACEs) measured at the individual level, and neighborhood deprivation index (NDI) measured at the zip code level, were the psychosocial stressors of interest. Exposures to three air pollutants—particulate matter (both PM2.5 and PM10) and nitrogen dioxide (NO2)—were also calculated at the zip code level. Outcome measures included several self-reported CVD-related health conditions. Both multiplicative and additive interaction quantified using the relative excess risk due to interaction (RERI), were evaluated. This study included 32,151 participants in 502 unique zip codes. Multiplicative and positive additive interactions were observed between ACEs and PM10 for diabetes, in models adjusted for NDI. The prevalence of diabetes was 1.58 (95% CI: 1.40, 1.79) times higher among those with both high ACEs and high PM10 compared to those with low ACEs and low PM10 (p-value = 0.04 for interaction on the multiplicative scale). Interaction was also observed between neighborhood-level stressors (NDI) and air pollution (NO2) for the stroke and diabetes outcomes on both multiplicative and additive scales. Modest interaction was observed between NDI and air pollution, supporting prior literature on the importance of neighborhood-level stressors in cardiovascular health and reinforcing the importance of NDI on air pollution health effects. ACEs may exert health effects through selection into disadvantaged neighborhoods and more work is needed to understand the accumulation of risk in multiple domains across the life course. PMID:29518012
STRUCTURAL RACISM AND HEALTH INEQUITIES
Gee, Gilbert C.; Ford, Chandra L.
2014-01-01
Racial minorities bear a disproportionate burden of morbidity and mortality. These inequities might be explained by racism, given the fact that racism has restricted the lives of racial minorities and immigrants throughout history. Recent studies have documented that individuals who report experiencing racism have greater rates of illnesses. While this body of research has been invaluable in advancing knowledge on health inequities, it still locates the experiences of racism at the individual level. Yet, the health of social groups is likely most strongly affected by structural, rather than individual, phenomena. The structural forms of racism and their relationship to health inequities remain under-studied. This article reviews several ways of conceptualizing structural racism, with a focus on social segregation, immigration policy, and intergenerational effects. Studies of disparities should more seriously consider the multiple dimensions of structural racism as fundamental causes of health disparities. PMID:25632292
NASA Astrophysics Data System (ADS)
Yin, Honglian; Sun, Aihua; Liu, Quanru; Chen, Zhiyi
2018-03-01
It is the key of motivating sub-contractors working hard and mutual cooperation, ensuring implementation overall goal of the project that to design rational incentive mechanism for general contractor. Based on the principal-agency theory, the subcontractor efforts is divided into two parts, one for individual efforts, another helping other subcontractors, team Cooperation incentive models of multiple subcontractors are set up, incentive schemes and intensities are also given. The results show that the general contractor may provide individual and team motivation incentives when subcontractors working independently, not affecting each other in time and space; otherwise, the general contractor may only provide individual incentive to entice teams collaboration between subcontractors and helping each other. The conclusions can provide a reference for the subcontract design of general and sub-contractor dynamic alliances.
Systemic lupus erythematosus diagnostics in the ‘omics’ era
Arriens, Cristina; Mohan, Chandra
2014-01-01
Systemic lupus erythematosus is a complex autoimmune disease affecting multiple organ systems. Currently, diagnosis relies upon meeting at least four out of eleven criteria outlined by the ACR. The scientific community actively pursues discovery of novel diagnostics in the hope of better identifying susceptible individuals in early stages of disease. Comprehensive studies have been conducted at multiple biological levels including: DNA (or genomics), mRNA (or transcriptomics), protein (or proteomics) and metabolites (or metabolomics). The ‘omics’ platforms allow us to re-examine systemic lupus erythematosus at a greater degree of molecular resolution. More importantly, one is hopeful that these ‘omics’ platforms may yield newer biomarkers for systemic lupus erythematosus that can help clinicians track the disease course with greater sensitivity and specificity. PMID:24860621
Association of TV watching with sleep problems in a church-going population.
Serrano, Salim; Lee, Jerry W; Dehom, Salem; Tonstad, Serena
2014-01-01
Sensory stimuli/inactivity may affect sleep. Sleep problems are associated with multiple health problems. We assessed TV habits in the Adventist Health Study-2 at baseline and sleep problems in the Biopsychosocial Religion and Health Study 1 to 4 years later. After exclusions, 3914 subjects split equally into TV watchers less than 2 hours per day or 2 or more hours per day. Watching TV 2 or more hours per day predicted problems falling asleep, middle of the night awakening, and waking early with inability to sleep again in multiple logistic regression. Excess TV watching disturbed sleep induction and quality, though the relationship may be bidirectional. TV habits should be considered in individuals with sleep problems.
The benefits of frequent positive affect: does happiness lead to success?
Lyubomirsky, Sonja; King, Laura; Diener, Ed
2005-11-01
Numerous studies show that happy individuals are successful across multiple life domains, including marriage, friendship, income, work performance, and health. The authors suggest a conceptual model to account for these findings, arguing that the happiness-success link exists not only because success makes people happy, but also because positive affect engenders success. Three classes of evidence--crosssectional, longitudinal, and experimental--are documented to test their model. Relevant studies are described and their effect sizes combined meta-analytically. The results reveal that happiness is associated with and precedes numerous successful outcomes, as well as behaviors paralleling success. Furthermore, the evidence suggests that positive affect--the hallmark of well-being--may be the cause of many of the desirable characteristics, resources, and successes correlated with happiness. Limitations, empirical issues, and important future research questions are discussed.
Patient and disease factors affecting the choice and adherence to active surveillance.
Dall'Era, Marc A
2015-05-01
Treatment decisions for low-risk prostate cancer are arguably some of the most challenging in oncology. Active surveillance has emerged as an important option for many men with tumors estimated to have a low metastatic potential. Multiple complex patient and physician factors affect the recommendation, selection, and adherence to active surveillance. While baseline clinical criteria are used to identify candidates for this approach, it is important to identify and understand other forces that may influence the management of prostate cancer with active surveillance. Patient perceptions and acceptance of active surveillance have improved over time. Treatment decisions for prostate cancer are strongly associated with physician recommendations, and a high-quality relationship between the patient and his healthcare system is critical to successful active surveillance. Patient understanding of prostate cancer and consistency of information received from separate physicians can affect a decision to pursue active surveillance. Psychological symptoms, most notably regarding anxiety and distress, can affect adherence to active surveillance over time. In general, anxiety for men on active surveillance is low, and lifestyle interventions and self-management strategies may be helpful for increasing quality of life and limiting abandonment of active surveillance in the absence of disease progression. Multiple factors may affect the decision for and adherence to active surveillance for prostate cancer. It is important for both physicians and patients to be aware of these issues and work towards individualized approaches and interventions as needed to increase adoption of active surveillance in the future.
Political violence, collective functioning and health: A review of the literature
Sousa, Cindy A.
2013-01-01
Political violence is implicated in a range of mental health outcomes, including PTSD, depression, and anxiety. The social and political contexts of people’s lives, however, offer considerable protection from the mental health effects of political violence. In spite of the importance of people’s social and political environments for health, there is limited scholarship on how political violence compromises necessary social and political systems and inhibits individuals from participating in social and political life. Drawing on literature from multiple disciplines, including public health, anthropology, and psychology, this narrative review uses a multi-level, social ecological framework to enhance current knowledge about the ways that political violence affects health. Findings from over 50 studies were analyzed and used to build a conceptual model demonstrating how political violence threatens three inter-related domains of functioning: individual functioning in relationship to their environment; community functioning and social fabric; and governmental functioning and delivery of services to populations. Results illustrate the need for multilevel frameworks that move beyond individual pathology towards more nuanced conceptualizations about how political violence affects health; findings contribute to the development of prevention programs addressing political violence. PMID:24133929
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.
2014-01-01
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
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.
Hammond, Flora M; Davis, Christine; Cook, James R; Philbrick, Peggy; Hirsch, Mark A
2016-01-01
Individuals with a history of traumatic brain injury (TBI) may have chronic problems with irritability, which can negatively affect their lives. (1) To describe the experience (thoughts and feelings) of irritability from the perspectives of multiple people living with or affected by the problem, and (2) to develop a conceptual model of irritability. Qualitative, participatory research. Forty-four stakeholders (individuals with a history of TBI, family members, community professionals, healthcare providers, and researchers) divided into 5 focus groups. Each group met 10 times to discuss the experience of irritability following TBI. Data were coded using grounded theory to develop themes, metacodes, and theories. Not applicable. A conceptual model emerged in which irritability has 5 dimensions: affective (related to moods and feelings); behavioral (especially in areas of self-regulation, impulse control, and time management); cognitive-perceptual (self-talk and ways of seeing the world); relational issues (interpersonal and family dynamics); and environmental (including environmental stimuli, change, disruptions in routine, and cultural expectations). This multidimensional model provides a framework for assessment, treatment, and future research aimed at better understanding irritability, as well as the development of assessment tools and treatment interventions.
Daily fluctuations in positive affect positively co-vary with working memory performance.
Brose, Annette; Lövdén, Martin; Schmiedek, Florian
2014-02-01
Positive affect is related to cognitive performance in multiple ways. It is associated with motivational aspects of performance, affective states capture attention, and information processing modes are a function of affect. In this study, we examined whether these links are relevant within individuals across time when they experience minor ups and downs of positive affect and work on cognitive tasks in the laboratory on a day-to-day basis. Using a microlongitudinal design, 101 younger adults (20-31 years of age) worked on 3 working memory tasks on about 100 occasions. Every day, they also reported on their momentary affect and their motivation to work on the tasks. In 2 of the 3 tasks, performance was enhanced on days when positive affect was above average. This performance enhancement was also associated with more motivation. Importantly, increases in task performance on days with above-average positive affect were mainly unrelated to variations in negative affect. This study's results are in line with between-person findings suggesting that high levels of well-being are associated with successful outcomes. They imply that success on cognitively demanding tasks is more likely on days when feeling happier. PsycINFO Database Record (c) 2014 APA, all rights reserved.
Sorby, Kris L; Green, Mark P; Dempster, Tim D; Jessop, Tim S
2018-05-29
Organisms increasingly encounter higher frequencies of extreme weather events as a consequence of global climate change. Currently, few strategies are available to mitigate climate change effects on animals arising from acute extreme high temperature events. We tested the capacity of physiological engineering to influence the intra- and multi-generational upper thermal tolerance capacity of a model organism Artemia , subjected to extreme high temperatures. Enhancement of specific physiological regulators during development could affect thermal tolerances or life-history attributes affecting subsequent fitness. Using experimental Artemia populations we exposed F0 individuals to one of four treatments; heat hardening (28°C to 36°C, 1°C per 10 minutes), heat hardening plus serotonin (0.056 µg ml -1 ), heat hardening plus methionine (0.79 mg ml -1 ), and a control treatment. Regulator concentrations were based on previous literature. Serotonin may promote thermotolerance, acting upon metabolism and life-history. Methionine acts as a methylation agent across generations. For all groups, measurements were collected for three performance traits of individual thermal tolerance (upper sublethal thermal limit, lethal limit, and dysregulation range) over two generations. Results showed no treatment increased upper thermal limit during acute thermal stress, although serotonin-treated and methionine-treated individuals outperformed controls across multiple thermal performance traits. Additionally, some effects were evident across generations. Together these results suggest phenotypic engineering provides complex outcomes; and if implemented with heat hardening can further influence performance in multiple thermal tolerance traits, within and across generations. Potentially, such techniques could be up-scaled to provide resilience and stability in populations susceptible to extreme temperature events. © 2018. Published by The Company of Biologists Ltd.
Content and affect in persecutory delusions.
Green, Catherine; Garety, Philippa A; Freeman, Daniel; Fowler, David; Bebbington, Paul; Dunn, Graham; Kuipers, Elizabeth
2006-11-01
The study aimed to explore the content of persecutory delusions and its potential links with levels of affective disturbance. Detailed examinations of the phenomenology of delusional beliefs have been rare, but are important for furthering theoretical and clinical understanding. A cross-sectional investigation of 70 individuals with current persecutory delusions was conducted. Taped semi-structured clinical interviews were transcribed for each participant. Using a coding frame devised for the current study, a detailed description of persecutory content was made. Scores on the Beck Depression and Anxiety Inventories, the Rosenberg Self-esteem Scale and the Psychotic Symptom Rating Scales were used as indicators of emotional distress. Data were gathered on the identity and type of persecutor, pervasiveness of threat and the power of the persecutor. Reliability was good. Beliefs involving multiple persecutors, human in nature and identifiable to the individual were common. For the majority threat was severe, ongoing and enduring and coupled with frequent feelings of vulnerability. Specific aspects of delusional content were found to be associated with emotional distress. For example, if participants felt more power in the face of persecution this was coupled with lower depression and higher self-esteem. Persecutory delusions are beliefs concerning severe threat, particularly of physical harm including death, which is personally significant, frequently involving multiple persecutors known to the individual. Depression is higher in those who felt less powerful than their persecutors. Associations, such as this, with emotional distress support a direct role for emotion in delusion formation and maintenance. It is consistent with cognitive models of delusions which emphasize the importance of considering emotional distress in the context of belief appraisal, although interpretation of the results is limited by the cross-sectional study design. Recognizing these links may in turn aid therapists in identifying aspects of beliefs that might be targeted to facilitate emotional change.
Nix, Eli B.; Hawdon, Nicole; Gravelle, Sean; Biman, Birubi; Brigden, Malcolm; Malik, Saleem; McCready, William; Ferroni, Garry
2012-01-01
Prior to the introduction of Haemophilus influenzae type b (Hib) conjugate vaccines, invasive Hib disease affected almost exclusively children. According to some recent studies, in the postvaccine era, adults, the elderly, and immunocompromised persons can be affected more often than children. As the production of type-specific anti-capsular polysaccharide antibodies is the major defense mechanism against Hib, individuals with defects in humoral immune responses have high susceptibility to infections caused by Hib. We hypothesized that nonvaccinated adults with chronic conditions causing immunosuppression may lack protective antibody to Hib. We assessed serum anti-Hib IgG levels and bactericidal activity in 59 patients with chronic renal failure, 30 patients with type 2 diabetes mellitus, 28 patients with chronic obstructive pulmonary disease (COPD), and 20 patients with multiple myeloma compared to 32 healthy controls of similar age. Considering antibody at >0.15 μg/ml as the protective correlate in unvaccinated individuals, we detected subprotective Hib antibody levels in 29% of chronic renal failure, 20% of diabetes, 14% of COPD, and 55% of myeloma patients compared to 3% of healthy controls. Additionally, 70% of myeloma and 58% of chronic renal failure patients did not have detectable serum bactericidal activity against Hib. Among individuals with severe diseases causing secondary immunodeficiency, patients with multiple myeloma and chronic renal failure are at an increased risk of invasive Hib disease. Considering that Hib continues to circulate in the population, this study provides a rationale for the immunization of some adult patients with secondary immunodeficiency with the pediatric Hib vaccine to achieve protective immunity. PMID:22398246
Three-dimensional tracking of small aquatic organisms using fluorescent nanoparticles.
Ekvall, Mikael T; Bianco, Giuseppe; Linse, Sara; Linke, Heiner; Bäckman, Johan; Hansson, Lars-Anders
2013-01-01
Tracking techniques are vital for the understanding of the biology and ecology of organisms. While such techniques have provided important information on the movement and migration of large animals, such as mammals and birds, scientific advances in understanding the individual behaviour and interactions of small (mm-scale) organisms have been hampered by constraints, such as the sizes of existing tracking devices, in existing tracking methods. By combining biology, chemistry and physics we here present a method that allows three-dimensional (3D) tracking of individual mm-sized aquatic organisms. The method is based on in-vivo labelling of the organisms with fluorescent nanoparticles, so-called quantum dots, and tracking of the organisms in 3D via the quantum-dot fluorescence using a synchronized multiple camera system. It allows for the efficient and simultaneous study of the behaviour of one as well as multiple individuals in large volumes of observation, thus enabling the study of behavioural interactions at the community scale. The method is non-perturbing - we demonstrate that the labelling is not affecting the behavioural response of the organisms - and is applicable over a wide range of taxa, including cladocerans as well as insects, suggesting that our methodological concept opens up for new research fields on individual behaviour of small animals. Hence, this offers opportunities to focus on important biological, ecological and behavioural questions never before possible to address.
Buttenschøn, Henriette N; Nielsen, Marit N; Thotakura, Gangadaar; Lee, Chris W; Nykjær, Anders; Mors, Ole; Glerup, Simon
2017-06-01
The identification of peripheral biomarkers for bipolar disorder is of great importance and has the potential to improve diagnosis, treatment and prognosis. Recent studies have reported lower plasma progranulin levels in bipolar individuals compared with controls and association with single nucleotide polymorphisms (SNPs) within the progranulin gene (GRN). In the present study, we investigated the effect of GRN and sortilin (SORT1) gene variation on serum progranulin levels in bipolar individuals and controls. In a Danish cohort of individuals with bipolar disorder and controls, we analysed the serum progranulin level (nbipolar=80, ncontrols=76) and five SNPs located within GRN and two SNPs near the SORT1 gene encoding sortilin, a progranulin scavenger receptor known to affect circulating progranulin levels (nbipolar=166, ncontrols=186). We observed no significant difference in the serum progranulin level between cases and controls and none of the analysed SNPs located within GRN or close to SORT1 were associated with bipolar disorder. Crude and adjusted (adjusted for case-control status, sex and age) linear regression analyses showed no effect of any SNPs on the serum progranulin level. However, we observed that the mean serum progranulin level in cases and controls is affected differently depending on the genotypes of two SNPs within GRN (rs2879096 and rs4792938). The sample size is relatively small and detailed information on medication and polarity of the disorder is not available. No correction for multiple testing was performed. Our study suggests that the potential of progranulin as a biomarker for bipolar disorder is genotype dependent.
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.
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
Grass buffers for playas in agricultural landscapes: A literature synthesis
Melcher, Cynthia P.; Skagen, Susan K.
2005-01-01
Future research should entail multiple-scale approaches at regional, wetland-complex, and individual watershed scales. Information needs include direct measures of buffer effectiveness in ‘real-world’ systems, refinement and field tests of buffer-effectiveness models, how buffers may affect floral and faunal communities of playas, and basic ecological information on playa function and playa wildlife ecology. Understanding how wildlife communities respond to patch size and habitat fragmentation is crucial for addressing questions regarding habitat quality of grass buffers in playa systems.
Correa-Fernández, Virmarie; Ji, Lingyun; Castro, Yessenia; Heppner, Whitney L.; Vidrine, Jennifer Irvin; Costello, Tracy J.; Mullen, Patricia Dolan; Cofta-Woerpel, Ludmila; Velasquez, Mary M.; Greisinger, Anthony; Cinciripini, Paul M.; Wetter, David W.
2012-01-01
Objective Based on conceptual models of addiction and affect regulation, this study examined the mechanisms linking current major depressive syndrome (MDS) and anxiety syndrome (AS) to postpartum smoking relapse. Method Data were collected in a randomized clinical trial from 251 women who quit smoking during pregnancy. Simple and multiple mediation models of the relations of MDS and AS with postpartum relapse were examined using linear regression, continuation ratio logit models, and a Bootstrapping procedure to test the indirect effects. Results Both MDS and AS significantly predicted postpartum smoking relapse. After adjusting for MDS, AS significantly predicted relapse. However, after adjusting for AS, MDS no longer predicted relapse. Situationally-based self-efficacy, expectancies of controlling negative affect by means other than smoking, and various dimensions of primary and secondary tobacco dependence individually mediated the effect of both MDS and AS on relapse. In multiple mediation models, self-efficacy in negative/affective situations significantly mediated the effect of MDS and AS on relapse. Conclusion The findings underscore the negative impact of depression and anxiety on postpartum smoking relapse, and suggest that the effects of MDS on postpartum relapse may be largely explained by comorbid AS. The current investigation provided mixed support for affect regulation models of addiction. Cognitive and tobacco dependence-related aspects of negative and positive reinforcement significantly mediated the relationship of depression and anxiety with relapse, while affect and stress did not. The findings emphasize the unique role of low agency with respect to abstaining from smoking in negative affective situations as a key predictor of postpartum smoking relapse. PMID:22390410
Correa-Fernández, Virmarie; Ji, Lingyun; Castro, Yessenia; Heppner, Whitney L; Vidrine, Jennifer Irvin; Costello, Tracy J; Mullen, Patricia Dolan; Cofta-Woerpel, Ludmila; Velasquez, Mary M; Greisinger, Anthony; Cinciripini, Paul M; Wetter, David W
2012-08-01
Based on conceptual models of addiction and affect regulation, this study examined the mechanisms linking current major depressive syndrome (MDS) and anxiety syndrome (AS) to postpartum smoking relapse. Data were collected in a randomized clinical trial from 251 women who quit smoking during pregnancy. Simple and multiple mediation models of the relations of MDS and AS with postpartum relapse were examined using linear regression, continuation ratio logit models, and a bootstrapping procedure to test the indirect effects. Both MDS and AS significantly predicted postpartum smoking relapse. After adjusting for MDS, AS significantly predicted relapse. However, after adjusting for AS, MDS no longer predicted relapse. Situationally based self-efficacy, expectancies of controlling negative affect by means other than smoking, and various dimensions of primary and secondary tobacco dependence individually mediated the effect of both MDS and AS on relapse. In multiple mediation models, self-efficacy in negative/affective situations significantly mediated the effect of MDS and AS on relapse. The findings underscore the negative impact of depression and anxiety on postpartum smoking relapse and suggest that the effects of MDS on postpartum relapse may be largely explained by comorbid AS. The current investigation provided mixed support for affect regulation models of addiction. Cognitive and tobacco dependence-related aspects of negative and positive reinforcement significantly mediated the relationship of depression and anxiety with relapse, whereas affect and stress did not. The findings emphasize the unique role of low agency with respect to abstaining from smoking in negative affective situations as a key predictor of postpartum smoking relapse. © 2012 American Psychological Association
Daw, Tim M; Cinner, Joshua E; McClanahan, Timothy R; Brown, Katrina; Stead, Selina M; Graham, Nicholas A J; Maina, Joseph
2012-01-01
Globally, fisheries are challenged by the combined impacts of overfishing, degradation of ecosystems and impacts of climate change, while fisheries livelihoods are further pressured by conservation policy imperatives. Fishers' adaptive responses to these pressures, such as exiting from a fishery to pursue alternative livelihoods, determine their own vulnerability, as well as the potential for reducing fishing effort and sustaining fisheries. The willingness and ability to make particular adaptations in response to change, such as exiting from a declining fishery, is influenced by economic, cultural and institutional factors operating at scales from individual fishers to national economies. Previous studies of exit from fisheries at single or few sites, offer limited insight into the relative importance of individual and larger-scale social and economic factors. We asked 599 fishers how they would respond to hypothetical scenarios of catch declines in 28 sites in five western Indian Ocean countries. We investigated how socioeconomic variables at the individual-, household- and site-scale affected whether they would exit fisheries. Site-level factors had the greatest influence on readiness to exit, but these relationships were contrary to common predictions. Specifically, higher levels of infrastructure development and economic vitality - expected to promote exit from fisheries - were associated with less readiness to exit. This may be due to site level histories of exit from fisheries, greater specialisation of fishing households, or higher rewards from fishing in more economically developed sites due to technology, market access, catch value and government subsidies. At the individual and household scale, fishers from households with more livelihood activities, and fishers with lower catch value were more willing to exit. These results demonstrate empirically how adaptive responses to change are influenced by factors at multiple scales, and highlight the importance of understanding natural resource-based livelihoods in the context of the wider economy and society.
Integrating Individual-Based Indices of Contaminant Effects
Rowe, Christopher L.; Hopkins, William A.; Congdon, Justin D.
2001-01-01
Habitat contamination can alter numerous biological processes in individual organisms. Examining multiple individual-level responses in an integrative fashion is necessary to understand how individual health or fitness reflects environmental contamination. Here we provide an example of such an integrated perspective based upon recent studies of an amphibian (the bullfrog, Rana catesbeiana) that experiences several, disparate changes when larval development occurs in a trace element�contaminated habitat. First, we present an overview of studies focused on specific responses of individuals collected from, or transplanted into, a habitat contaminated by coal combustion residues (CCR). These studies have reported morphological, behavioral, and physiological modificationsmore » to individuals chronically interacting with sediments in the CCR-contaminated site. Morphological abnormalities in the oral and tail regions in contaminant-exposed individuals influenced other properties such as grazing, growth, and swimming performance. Behavioral changes in swimming activities and responses to stimuli appear to influence predation risk in the contaminant-exposed population. Significant changes in bioenergetics in the contaminated habitat, evident as abnormally high energetic expenditures for survival (maintenance) costs, may ultimately influence production pathways (growth, energy storage) in individuals. We then present a conceptual model to examine how interactions among the affected systems (morphological, behavioral, physiological) may ultimately bring about more severe effects than would be predicted if the responses were considered in isolation. A complex interplay among simultaneously occurring biological changes emerges in which multiple, sublethal effects ultimately can translate into reductions in larval or juvenile survival, and thus reduced recruitment of juveniles into the population. In systems where individuals are exposed to low concentrations of contaminants for long periods of time, research focused on one or few sublethal responses could substantially underestimate overall effects on individuals. We suggest that investigators adopt a more integrated perspective on contaminant-induced biological changes so that studies of individual-based effects can be better integrated into analyses of mechanisms of population change.« less
Goverover, Yael; Chiaravalloti, Nancy; DeLuca, John
2016-04-01
Recently, a brief cognitive assessment (Brief International Cognitive Assessment for Multiple Sclerosis: BICAMS) has been recommended for use with patients diagnosed with multiple sclerosis (MS) to screen for cognitive impairments. However, the relationship between the BICAMS and everyday life activity has not been examined. The aim of this study was to examine whether the BICAMS can predict performance of activities of daily living using Actual Reality(TM) (AR) in persons with MS. A between-subjects design was utilized to compare 41 individuals with MS and 32 healthy controls (HC) performing BICAMS and an AR task. Participants were asked to access the internet to purchase a flight ticket or cookies, and were administered the BICAMS and questionnaires to assess quality of life (QOL), affect symptomatology, and prior internet experience. Participants with MS performed significantly worse than HC on the BICAMS and the AR. Additionally, better BICAMS performance was associated with more independent AR performance. Self-reports of QOL were not correlated with AR or BICAMS performance. Individuals with MS have greater problems with actual everyday life tasks as compared to HC. The BICAMS is a promising cognitive screening tool to predict actual functional performance in participants with MS. © The Author(s), 2015.
Li, Fei-Feng; Wang, Xu-Dong; Zhu, Min-Wei; Lou, Zhi-Hong; Zhang, Qiong; Zhu, Chun-Yu; Feng, Hong-Lin; Lin, Zhi-Guo; Liu, Shu-Lin
2015-12-01
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of this work was to identify the genetic defects in a Chinese family with MOPD II associated with multiple intracranial aneurysms. The patient had typical MOPD II syndrome, with subarachnoid hemorrhage and multiple intracranial aneurysms. We identified three novel mutations in the PCNT gene, including one single base alteration (9842A>C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41). The deletions were co-segregated with the affected individual in the family and were not present in the control population. Computer modeling demonstrated that the deletions may cause drastic changes on the secondary and tertiary structures, affecting the hydrophilicity and hydrophobicity of the mutant proteins. In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling.
Abolghasemi, Abbas; Rajabi, Saeed
2013-01-01
Background Due to its progressive nature in all aspects of life, addiction endangers the health of individuals, families and the society. Objectives The purpose of this study was to determine the role of self-regulation and affective control in predicting interpersonal reactivity of drug addicts. Materials and Methods This research is a correlation study. The statistical population of this study includes all drug addicts who were referred to addiction treatment centers of Ardabil in 2011 of whom 160 addicts were selected through convenience sampling. A self-regulation questionnaire, interpersonal reactivity questionnaire and affective control scale were used for data collection. Results Research results showed that self-regulation (r = -0.40) and affective control (r = -0.29) have a significant relationship with interpersonal reactivity of addicts (P < 0.001). The results of the multiple regression analysis indicated that 19 percent of interpersonal reactivity can be predicted by self-regulation and affective control. Conclusion These results suggest that self-regulation and affective control play an important role in exacerbating as well as reducing interpersonal reactivity of addicts. PMID:24971268
DOE Office of Scientific and Technical Information (OSTI.GOV)
Bandhauer, Todd M.; Farmer, Joseph C.
A battery management system with thermally integrated fire suppression includes a multiplicity of individual battery cells in a housing; a multiplicity of cooling passages in the housing within or between the multiplicity of individual battery cells; a multiplicity of sensors operably connected to the individual battery cells, the sensors adapted to detect a thermal runaway event related to one or more of the multiplicity of individual battery cells; and a management system adapted to inject coolant into at least one of the multiplicity of cooling passages upon the detection of the thermal runaway event by the any one of themore » multiplicity of sensors, so that the thermal runaway event is rapidly quenched.« less
Fortington, Lauren V; van der Worp, Henk; van den Akker-Scheek, Inge; Finch, Caroline F
2017-06-01
To identify and prioritise targets for injury prevention efforts, injury incidence studies are widely reported. The accuracy and consistency in calculation and reporting of injury incidence is crucial. Many individuals experience more than one injury but multiple injuries are not consistently reported in sport injury incidence studies. The aim of this systematic review was to evaluate current practice of how multiple injuries within individuals have been defined and reported in prospective, long-term, injury studies in team ball sports. A systematic search of three online databases for articles published before 2016. Publications were included if (1) they collected prospective data on musculoskeletal injuries in individual participants; (2) the study duration was >1 consecutive calendar year/season; and (3) individuals were the unit of analysis. Key study features were summarised, including definitions of injury, how multiple individual injuries were reported and results relating to multiple injuries. Of the 71 publications included, half did not specifically indicate multiple individual injuries; those that did were largely limited to reporting recurrent injuries. Eight studies reported the number/proportion of athletes with more than one injury, and 11 studies presented the mean/number of injuries per athlete. Despite it being relatively common to collect data on individuals across more than one season, the reporting of multiple injuries within individuals is much more limited. Ultimately, better addressing of multiple injuries will improve the accuracy of injury incidence studies and enable more precise targeting and monitoring of the effectiveness of preventive interventions.
Giacaman, Rita; Shannon, Harry S; Saab, Hana; Arya, Neil; Boyce, Will
2007-08-01
We conducted a survey of Palestinian adolescents in school. We hypothesized that collective and individual exposures to violence would both negatively affect adolescents' mental health. We also anticipated that the negative effect of collective exposures on mental health would be less than that of individual exposures. Our analysis was designed to test these hypotheses. A representative sample of 3415 students of 10th and 11th grades from the Ramallah District of the West Bank participated in the survey. The primary independent variables were scales of individual and collective exposures to trauma/violence (ETV) by the Israeli military and settlers. Factor analysis revealed several sub-scales. Outcome measures were constructed and included: a binary measure of depressive-like states, and emotional, depressive-like state, and somatic scales. Several variables were identified as possible covariates: gender, age, school-type, residence, employment status of father, and identity documents held. Logistic and multiple regression analyses revealed a strong relationship between ETV and adolescents' mental health, with both individual and collective exposures having independent effects. There was a higher prevalence of depressive-like symptoms among girls compared with boys, and in adolescents living in Palestinian refugee camps compared with those living in cities, towns and villages. The findings confirmed our hypothesis that both individual and collective ETV independently affect the mental health of adolescents. Contrary to expectations, individual exposures did not consistently have a greater negative effect on health outcomes than collective exposures, although the sub-scale of direct personal exposures to violence consistently showed the strongest effect among sub-scales. The results emphasize the importance of going beyond individual experiences and including the health outcomes of collective violation when analyzing violent and traumatic contexts.
Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.
Sorge, Shawn T; Hesdorffer, Dale C; Phelan, Jo C; Winawer, Melodie R; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K; Ottman, Ruth
2016-10-01
Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients' psychological responses and coping strategies, but little is known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that among members of families containing multiple individuals with epilepsy, depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause. A self-administered survey was completed by 417 individuals in 104 families averaging 4 individuals with epilepsy per family. Current depression was measured with the Patient Health Questionnaire. Genetic causal attribution was assessed by three questions addressing the following: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual's epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biologic relatives without epilepsy, and 3.9% in 51 individuals married into the families. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biologic relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p = 0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing multiple affected individuals. This association should be considered when addressing mental health issues in such families. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.
Multiple Role Occupancy in Midlife: Balancing Work and Family Life in Britain.
ERIC Educational Resources Information Center
Evandrou, Maria; Glaser, Karen; Henz, Ursula
2002-01-01
Investigates the extent of multiple-role occupancy among midlife individuals in Britain, focusing on work and family commitments. The proportion of individuals in midlife who have multiple roles, in terms of paid work and family care, at any one point in time is low, but a much higher proportion of individuals have occupied multiple roles over…
Srivastava, Isha; Khurana, Pooja; Yadav, Mohini; Hasija, Yasha
2017-12-01
Aging, though an inevitable part of life, is becoming a worldwide social and economic problem. Healthy aging is usually marked by low probability of age related disorders. Good therapeutic approaches are still in need to cure age related disorders. Occurrence of more than one ARD in an individual, expresses the need of discovery of such target proteins, which can affect multiple ARDs. Advanced scientific and medical research technologies throughout last three decades have arrived to the point where lots of key molecular determinants affect human disorders can be examined thoroughly. In this study, we designed and executed an approach to prioritize drugs that may target multiple age related disorders. Our methodology, focused on the analysis of biological pathways and protein protein interaction networks that may contribute to the pharmacology of age related disorders, included various steps such as retrieval and analysis of data, protein-protein interaction network analysis, and statistical and comparative analysis of topological coefficients, pathway, and functional enrichment analysis, and identification of drug-target proteins. We assume that the identified molecular determinants may be prioritized for further screening as novel drug targets to cure multiple ARDs. Based on the analysis, an online tool named as 'ARDnet' has been developed to construct and demonstrate ARD interactions at the level of PPI, ARDs and ARDs protein interaction, ARDs pathway interaction and drug-target interaction. The tool is freely made available at http://genomeinformatics.dtu.ac.in/ARDNet/Index.html. Copyright © 2017 Elsevier B.V. All rights reserved.
Motivation and Self-Management Behavior of the Individuals With Chronic Low Back Pain.
Jung, Mi Jung; Jeong, Younhee
2016-01-01
Self-management behavior is an important component for successful pain management in individuals with chronic low back pain. Motivation has been considered as an effective way to change behavior. Because there are other physical, social, and psychological factors affecting individuals with pain, it is necessary to identify the main effect of motivation on self-management behavior without the influence of those factors. The purpose of this study was to investigate the effect of motivation on self-management in controlling pain, depression, and social support. We used a nonexperimental, cross-sectional, descriptive design with mediation analysis and included 120 participants' data in the final analysis. We also used hierarchical multiple regression to test the effect of motivation, and multiple regression analysis and Sobel test were used to examine the mediating effect. Motivation itself accounted for 23.4% of the variance in self-management, F(1, 118) = 35.003, p < .001. After controlling covariates, motivation was also a significant factor for self-management. In the mediation analysis, motivation completely mediated the relationship between education and self-management, z = 2.292, p = .021. Motivation is an important part of self-management, and self-management education is not effective without motivation. The results of our study suggest that nurses incorporate motivation in nursing intervention, rather than only giving information.
Therapeutic Yoga: Symptom Management for Multiple Sclerosis
MacDonald, Megan
2015-01-01
Abstract Multiple sclerosis (MS) is the most common autoimmune inflammatory demyelinating disease of the central nervous system, affecting over 2.3 million people worldwide. According to the National Institute of Neurological Disorders and Stroke, the age of disease onset is typically between 20 and 40 years, with a higher incidence in women. Individuals with MS experience a wide range of symptoms, including declining physical, emotional, and psychological symptoms (e.g., fatigue, imbalance, spasticity, chronic pain, cognitive impairment, bladder and bowel dysfunction, visual and speech impairments, depression, sensory disturbance, and mobility impairment). To date, both the cause of and cure for MS remain unknown. In recent years, more individuals with MS have been pursuing alternative methods of treatment to manage symptoms of the disease, including mind-body therapies such as yoga, meditation, breathing, and relaxation techniques. It has been suggested that the practice of yoga may be a safe and effective way of managing symptoms of MS. Therefore, the purpose of this paper is to summarize the most relevant literature on exercise and mind-body modalities to treat MS symptoms and, more specifically, the benefits and potential role of yoga as an alternative treatment of symptom management for individuals with MS. The article also discusses future directions for research. PMID:26270955
Stable long-term blood formation by stem cells in murine steady-state hematopoiesis.
Zavidij, Oksana; Ball, Claudia R; Herbst, Friederike; Oppel, Felix; Fessler, Sylvia; Schmidt, Manfred; von Kalle, Christof; Glimm, Hanno
2012-09-01
Hematopoietic stem cells (HSCs) generate all mature blood cells during the whole lifespan of an individual. However, the clonal contribution of individual HSC and progenitor cells in steady-state hematopoiesis is poorly understood. To investigate the activity of HSCs under steady-state conditions, murine HSC and progenitor cells were genetically marked in vivo by integrating lentiviral vectors (LVs) encoding green fluorescent protein (GFP). Hematopoietic contribution of individual marked clones was monitored by determination of lentiviral integration sites using highly sensitive linear amplification-mediated-polymerase chain reaction. A remarkably stable small proportion of hematopoietic cells expressed GFP in LV-injected animals for up to 24 months, indicating stable marking of murine steady-state hematopoiesis. Analysis of the lentiviral integration sites revealed that multiple hematopoietic clones with both myeloid and lymphoid differentiation potential contributed to long-term hematopoiesis. In contrast to intrafemoral vector injection, intravenous administration of LV preferentially targeted short-lived progenitor cells. Myelosuppressive treatment of mice prior to LV-injection did not affect the marking efficiency. Our study represents the first continuous analysis of clonal behavior of genetically marked hematopoietic cells in an unmanipulated system, providing evidence that multiple clones are simultaneously active in murine steady-state hematopoiesis. Copyright © 2012 AlphaMed Press.
Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia
Tyagi, Pallavi; Tyagi, Vipin; Hashim, Adnan A
2011-01-01
Hypohidrotic ectodermal dysplasia (HED) is a group of rare multisystemic genetic syndromes that affects ectodermal structures such as skin, hair, nails, teeth and sweat glands. The authors present a case of a child with ocular and dermatological signs of HED along with severe involvement of other multiple organ systems. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age. The purpose of this case report is to create awareness in ophthalmic community of its diagnosis and clinical manifestations. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evaluation of affected individuals and carriers and genetic counselling. PMID:22700604
Neurocognitive function in an extended Afrikaner-ancestry family with affective illness.
Savitz, Jonathan; van der Merwe, Lize; Solms, Mark; Ramesar, Rajkumar
2007-03-01
To characterize the neuropsychological profile of an extended family with unipolar depression (UPD) and other forms of affective illness. We administered a battery of neuropsychological tasks measuring various aspects of executive function and visual and verbal memory to 49 individuals in 1 extended family. Six participants had 1 lifetime episode of major depression (MDE-S), 15 were diagnosed with recurrent major depression (MDE-R), 11 had another DSM-IV diagnosis and 17 subjects were unaffected. After controlling for multiple confounding factors, including mood and medication, the MDE-R sample made significantly more errors than unaffected relatives on the Stroop Task, a measure of cognitive control. There may be at least 1 subtype of UPD characterized by a state-independent deficit in cognitive control.
New developments in occupational dermatology.
Diepgen, Thomas L
2016-09-01
Occupational skin diseases according to BK No. 5101 - "severe or recurrent skin diseases which have forced the person to discontinue all occupational activities that caused or could cause the development, worsening, or recurrence of the disease" - is the most commonly reported notifiable occupational diseases in Germany. Following the optimization of measures of primary, secondary, and tertiary prevention, today most individuals affected are able to continue their profession. With the revision of the German ordinance on occupational diseases (BKV) in January 2015, skin cancer caused by UV irradiation was added to the list of occupational diseases. The new occupational disease (BK) 5103 is defined as "squamous cell carcinoma or multiple actinic keratoses of the skin caused by natural UV irradiation". In this context, "multiple" signifies the occurrence of either more than five individual actinic keratosis lesions over the course of 12 months or the presence of field cancerization of > 4 cm(2) . In the following review, important aspects of this new occupational disease will be highlighted and discussed. © 2016 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.
Redefining neuromarketing as an integrated science of influence
Breiter, Hans C.; Block, Martin; Blood, Anne J.; Calder, Bobby; Chamberlain, Laura; Lee, Nick; Livengood, Sherri; Mulhern, Frank J.; Raman, Kalyan; Schultz, Don; Stern, Daniel B.; Viswanathan, Vijay; Zhang, Fengqing (Zoe)
2015-01-01
Multiple transformative forces target marketing, many of which derive from new technologies that allow us to sample thinking in real time (i.e., brain imaging), or to look at large aggregations of decisions (i.e., big data). There has been an inclination to refer to the intersection of these technologies with the general topic of marketing as “neuromarketing”. There has not been a serious effort to frame neuromarketing, which is the goal of this paper. Neuromarketing can be compared to neuroeconomics, wherein neuroeconomics is generally focused on how individuals make “choices”, and represent distributions of choices. Neuromarketing, in contrast, focuses on how a distribution of choices can be shifted or “influenced”, which can occur at multiple “scales” of behavior (e.g., individual, group, or market/society). Given influence can affect choice through many cognitive modalities, and not just that of valuation of choice options, a science of influence also implies a need to develop a model of cognitive function integrating attention, memory, and reward/aversion function. The paper concludes with a brief description of three domains of neuromarketing application for studying influence, and their caveats. PMID:25709573
Redefining neuromarketing as an integrated science of influence.
Breiter, Hans C; Block, Martin; Blood, Anne J; Calder, Bobby; Chamberlain, Laura; Lee, Nick; Livengood, Sherri; Mulhern, Frank J; Raman, Kalyan; Schultz, Don; Stern, Daniel B; Viswanathan, Vijay; Zhang, Fengqing Zoe
2014-01-01
Multiple transformative forces target marketing, many of which derive from new technologies that allow us to sample thinking in real time (i.e., brain imaging), or to look at large aggregations of decisions (i.e., big data). There has been an inclination to refer to the intersection of these technologies with the general topic of marketing as "neuromarketing". There has not been a serious effort to frame neuromarketing, which is the goal of this paper. Neuromarketing can be compared to neuroeconomics, wherein neuroeconomics is generally focused on how individuals make "choices", and represent distributions of choices. Neuromarketing, in contrast, focuses on how a distribution of choices can be shifted or "influenced", which can occur at multiple "scales" of behavior (e.g., individual, group, or market/society). Given influence can affect choice through many cognitive modalities, and not just that of valuation of choice options, a science of influence also implies a need to develop a model of cognitive function integrating attention, memory, and reward/aversion function. The paper concludes with a brief description of three domains of neuromarketing application for studying influence, and their caveats.
Theoretical constraints in the design of multivariable control systems
NASA Technical Reports Server (NTRS)
Rynaski, E. G.; Mook, D. Joseph; Depena, Juan
1991-01-01
The research being performed under NASA Grant NAG1-1361 involves a more clear understanding and definition of the constraints involved in the pole-zero placement or assignment process for multiple input, multiple output systems. Complete state feedback to more than a single controller under conditions of complete controllability and observability is redundant if pole placement alone is the design objective. The additional feedback gains, above and beyond those required for pole placement can be used for eignevalue assignment or zero placement of individual closed loop transfer functions. Because both poles and zeros of individual closed loop transfer functions strongly affect the dynamic response to a pilot command input, the pole-zero placement problem is important. When fewer controllers than degrees of freedom of motion are available, complete design freedom is not possible, the transmission zeros constrain the regions of possible pole-zero placement. The effect of transmission zero constraints on the design possibilities, selection of transmission zeros and the avoidance of producing non-minimum phase transfer functions is the subject of the research being performed under this grant.
Strategies for maximizing clinical effectiveness in the treatment of schizophrenia.
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.
The diagnosis and management of dyscalculia.
Kaufmann, Liane; von Aster, Michael
2012-11-01
Dyscalculia is defined as difficulty acquiring basic arithmetic skills that is not explained by low intelligence or inadequate schooling. About 5% of children in primary schools are affected. Dyscalculia does not improve without treatment. In this article, we selectively review publications on dyscalculia from multiple disciplines (medicine, psychology, neuroscience, education/special education). Many children and adolescents with dyscalculia have associated cognitive dysfunction (e.g., impairment of working memory and visuospatial skills), and 20% to 60% of those affected have comorbid disorders such as dyslexia or attention deficit disorder. The few interventional studies that have been published to date document the efficacy of pedagogic-therapeutic interventions directed toward specific problem areas. The treatment is tailored to the individual patient's cognitive functional profile and severity of manifestations. Psychotherapy and/or medication are sometimes necessary as well. The early identification and treatment of dyscalculia are very important in view of its frequent association with mental disorders. Sufferers need a thorough, neuropsychologically oriented diagnostic evaluation that takes account of the complexity of dyscalculia and its multiple phenotypes and can thus provide a basis for the planning of effective treatment.
Palles, Claire; Cazier, Jean-Baptiste; Howarth, Kimberley M; Domingo, Enric; Jones, Angela M; Broderick, Peter; Kemp, Zoe; Spain, Sarah L; Guarino, Estrella; Guarino Almeida, Estrella; Salguero, Israel; Sherborne, Amy; Chubb, Daniel; Carvajal-Carmona, Luis G; Ma, Yusanne; Kaur, Kulvinder; Dobbins, Sara; Barclay, Ella; Gorman, Maggie; Martin, Lynn; Kovac, Michal B; Humphray, Sean; Lucassen, Anneke; Holmes, Christopher C; Bentley, David; Donnelly, Peter; Taylor, Jenny; Petridis, Christos; Roylance, Rebecca; Sawyer, Elinor J; Kerr, David J; Clark, Susan; Grimes, Jonathan; Kearsey, Stephen E; Thomas, Huw J W; McVean, Gilean; Houlston, Richard S; Tomlinson, Ian
2013-02-01
Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline variants in several multiple-adenoma and/or CRC cases but in no controls. The variants associated with susceptibility, POLE p.Leu424Val and POLD1 p.Ser478Asn, have high penetrance, and POLD1 mutation was also associated with endometrial cancer predisposition. The mutations map to equivalent sites in the proofreading (exonuclease) domain of DNA polymerases ɛ and δ and are predicted to cause a defect in the correction of mispaired bases inserted during DNA replication. In agreement with this prediction, the tumors from mutation carriers were microsatellite stable but tended to acquire base substitution mutations, as confirmed by yeast functional assays. Further analysis of published data showed that the recently described group of hypermutant, microsatellite-stable CRCs is likely to be caused by somatic POLE mutations affecting the exonuclease domain.
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine
2015-11-01
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.
An unsupervised method for quantifying the behavior of paired animals
NASA Astrophysics Data System (ADS)
Klibaite, Ugne; Berman, Gordon J.; Cande, Jessica; Stern, David L.; Shaevitz, Joshua W.
2017-02-01
Behaviors involving the interaction of multiple individuals are complex and frequently crucial for an animal’s survival. These interactions, ranging across sensory modalities, length scales, and time scales, are often subtle and difficult to characterize. Contextual effects on the frequency of behaviors become even more difficult to quantify when physical interaction between animals interferes with conventional data analysis, e.g. due to visual occlusion. We introduce a method for quantifying behavior in fruit fly interaction that combines high-throughput video acquisition and tracking of individuals with recent unsupervised methods for capturing an animal’s entire behavioral repertoire. We find behavioral differences between solitary flies and those paired with an individual of the opposite sex, identifying specific behaviors that are affected by social and spatial context. Our pipeline allows for a comprehensive description of the interaction between two individuals using unsupervised machine learning methods, and will be used to answer questions about the depth of complexity and variance in fruit fly courtship.
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Schindler, Emily I; Nylen, Erik L; Ko, Audrey C; Affatigato, Louisa M; Heggen, Andrew C; Wang, Kai; Sheffield, Val C; Stone, Edwin M
2010-10-01
Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribution of individual alleles because relatively few affected individuals share the same two disease-causing variations. In this study, we used multiple regression analysis to estimate the pathogenicity of specific alleles of ABCA4 in patients with retinal phenotypes ranging from Stargardt disease to retinitis pigmentosa. This analysis revealed quantitative allelic effects on two aspects of the visual phenotype, visual acuity (P < 10(-3)) and visual field (P < 10(-7)). Discordance between visual acuity and visual field in individual patients suggests the existence of at least two non-ABCA4 modifying factors. The findings of this study will facilitate the discovery of factors that modify ABCA4 disease and will also aid in the optimal selection of subjects for clinical trials of new therapies.
Collective Motion in Bacterial Populations with Mixed Phenotypic Behaviors
NASA Astrophysics Data System (ADS)
Hoeger, Kentaro; Strickland, Ben; Shoup, Daniel; Ursell, Tristan
The motion of large, densely packed groups of organisms is often qualitatively distinct from the motion of individuals, yet hinges on individual properties and behaviors. Collective motion of bacteria depends strongly on the phenotypic behaviors of individual cells, the physical interactions between cells, and the geometry of their environment, often with multiple phenotypes coexisting in a population. Thus, to characterize how these selectively important interactions affect group traits, such as cell dispersal, spatial segregation of phenotypes, and material transport in groups, we use a library of Bacillus subtilis mutants that modulate chemotaxis, motility, and biofilm formation. By mixing phenotypes and observing bacterial behaviors and motion at single cell resolution, we probe collective motion as a function of phenotypic mixture and environmental geometry. Our work demonstrates that collective microbial motion exhibits a transition, from `turbulence' to semiballistic burrowing, as phenotypic composition varies. This work illuminates the role that individual cell behaviors play in the emergence of collective motion, and may signal qualitatively distinct regimes of material transport in bacterial populations. University of Oregon.
STRUCTURAL RACISM AND HEALTH INEQUITIES: Old Issues, New Directions.
Gee, Gilbert C; Ford, Chandra L
2011-04-01
Racial minorities bear a disproportionate burden of morbidity and mortality. These inequities might be explained by racism, given the fact that racism has restricted the lives of racial minorities and immigrants throughout history. Recent studies have documented that individuals who report experiencing racism have greater rates of illnesses. While this body of research has been invaluable in advancing knowledge on health inequities, it still locates the experiences of racism at the individual level. Yet, the health of social groups is likely most strongly affected by structural, rather than individual, phenomena. The structural forms of racism and their relationship to health inequities remain under-studied. This article reviews several ways of conceptualizing structural racism, with a focus on social segregation, immigration policy, and intergenerational effects. Studies of disparities should more seriously consider the multiple dimensions of structural racism as fundamental causes of health disparities.
Capitanio, Umberto; Abdollah, Firas; Matloob, Rayan; Salonia, Andrea; Suardi, Nazareno; Briganti, Alberto; Carenzi, Cristina; Rigatti, Patrizio; Montorsi, Francesco; Bertini, Roberto
2013-06-01
To test whether the combination of number and location of distant metastases affects cancer-specific survival in patients with metastatic renal cell carcinoma. Overall, 242 metastatic renal cell carcinoma patients with synchronous metastases at diagnosis underwent cytoreductive nephrectomy at a single institution. Combinations of number and location of distant metastases were coded as: single metastasis and single organ affected, multiple metastases and single organ affected, single metastasis for each of the multiple organs affected, and multiple metastases for each of the multiple organs affected. Covariates included age, symptoms, performance status, American Society of Anesthesiologists score, hemoglobin, lactate dehydrogenase, tumor size, Fuhrman grade, T stage, lymph node status, necrosis, sarcomatoid features and metastasectomy at the time of nephrectomy. The median survival was 34.7 versus 32.3 versus 29.6 versus 8.5 months for single metastasis and single organ affected, multiple metastases and single organ affected single metastasis for each of the multiple organs affected, and multiple metastases for each of the multiple organs affected patients, respectively. At multivariable analyses, the combination of number and location of distant metastases resulted in one of the most informative and independent predictors of cancer-specific survival in metastatic renal cell carcinoma patients. The lung was the location with the highest rate of single organ affected (50.3% vs 35.1% in other sites; P < 0.001). Considering only patients with a single metastasis, no statistically significantly different cancer-specific survival rates were recorded (P > 0.3) among different metastatic organs. Among metastatic renal cell carcinoma patients undergoing cytoreductive nephrectomy, the combination of the number and location of distant metastases is a major independent predictor of cancer-specific survival. Patients with multiple organs affected by multifocal disease are more likely to have poorer survival. © 2012 The Japanese Urological Association.
Sliding into happiness: A new tool for measuring affective responses to words.
Warriner, Amy Beth; Shore, David I; Schmidt, Louis A; Imbault, Constance L; Kuperman, Victor
2017-03-01
Reliable measurement of affective responses is critical for research into human emotion. Affective evaluation of words is most commonly gauged on multiple dimensions-including valence (positivity) and arousal-using a rating scale. Despite its popularity, this scale is open to criticism: It generates ordinal data that is often misinterpreted as interval, it does not provide the fine resolution that is essential by recent theoretical accounts of emotion, and its extremes may not be properly calibrated. In 5 experiments, the authors introduce a new slider tool for affective evaluation of words on a continuous, well-calibrated and high-resolution scale. In Experiment 1, participants were shown a word and asked to move a manikin representing themselves closer to or farther away from the word. The manikin's distance from the word strongly correlated with the word's valence. In Experiment 2, individual differences in shyness and sociability elicited reliable differences in distance from the words. Experiment 3 validated the results of Experiments 1 and 2 using a demographically more diverse population of responders. Finally, Experiment 4 (along with Experiment 2) suggested that task demand is not a potential cause for scale recalibration. In Experiment 5, men and women placed a manikin closer or farther from words that showed sex differences in valence, highlighting the sensitivity of this measure to group differences. These findings shed a new light on interactions among affect, language, and individual differences, and demonstrate the utility of a new tool for measuring word affect. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
Peer Effects in Unethical Behavior: Standing or Reputation?
2015-01-01
Recent empirical evidence shows that working in an unsupervised, isolated situation under competition, can increase dishonest behavior to achieve prestige. However, could working in a common space, in the presence of colleagues affect cheating? Here, we examine how familiar-peer influence, supervision and social incentives affect worker performance and dishonest behavior. First, we show that working in the presence of peers is an effective mechanism to constrain honest/dishonest behavior compared to an isolated work situation (experiment 1). Second, we demonstrate that the mere suspicion of dishonesty from another peer is not enough to affect individual cheating behavior (experiment 2), suggesting that reputation holds great importance in a worker’s self-image acting as a strong social incentives. Third, we show that when the suspicion of dishonesty increases with multiple peers behaving dishonestly, the desire to increase standing is sufficient to nudge individuals’ behavior back to cheating at the same levels as isolated situations (experiment 3). PMID:25853716
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
Cerebral Cavernous Malformation
... and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis ... and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis ...
Witcher, Chad S G; McGannon, Kerry R; Hernandez, Paul; Dechman, Gail; Ferrier, Suzanne; Spence, John C; Rhodes, Ryan E; Blanchard, Chris M
2015-11-01
Exercise training within the pulmonary rehabilitation (PR) context is considered the most effective strategy to reduce COPD symptoms. However, participation in PR and continued exercise training following program completion are low. Previous research examined factors related to attendance and adherence, but the knowledge base to date has been limited to quantitative findings that focus solely on participants diagnosed with COPD. In addition to quantitative research, exploring multiple perspectives (eg, PR participants, significant others, staff, and stakeholders) using qualitative research methods opens a window of additional understanding. The goal of this study was to obtain multiple perspectives on PR to gain insight into factors that affect exercise participation among individuals diagnosed with COPD. A total of 26 participants were interviewed via telephone, including 8 individuals diagnosed with COPD (4 men and 4 women, mean age of 67 [range of 58-77] y), 4 family members, 11 PR staff, and 3 community stakeholders. Analysis revealed 3 themes: task self-efficacy for exercise, provision of support and encouragement, and perceptions of gender differences. Despite initial concerns, individuals diagnosed with COPD reported becoming more confident during PR and emphasized the importance of being supported by staff. PR staff perceived that men tended to approach exercise in a more eager and aggressive manner compared with women, who were more cautious and hesitant. In addition to enhancing task self-efficacy, findings suggest that exercise participation and adherence within the PR environment may be improved by adopting a gender-tailored approach. Copyright © 2015 by Daedalus Enterprises.
Stanley, Ian H; Rufino, Katrina A; Rogers, Megan L; Ellis, Thomas E; Joiner, Thomas E
2016-09-01
Acute Suicidal Affective Disturbance (ASAD) is a newly proposed diagnostic entity that characterizes rapid onset suicidal intent. This study aims to confirm the factor structure of ASAD among psychiatric inpatients, and to determine the clinical utility of ASAD in predicting suicide attempt status. Overall, 1442 psychiatric inpatients completed a battery of self-report questionnaires assessing symptoms theorized to comprise the ASAD construct. Utilizing these data, a confirmatory factor analysis with a one-factor solution was performed. Regression analyses were employed to determine if the ASAD construct predicted past suicide attempts, and analyses of variance (ANOVAs) were employed to determine if ASAD symptoms differed by the presence and number of past suicide attempts. The one-factor solution indicated good fit: χ(2)(77) = 309.1, p < 0.001, Tucker-Lewis Index (TLI) = 0.96, comparative fit index (CFI) = 0.97, root-mean-square error of approximation (RMSEA) = 0.05. Controlling for depressive disorders and current symptoms, the ASAD construct significantly predicted the presence of a past suicide attempt. Moreover, ASAD differentiated in the expected directions between individuals with a history of multiple suicide attempts, individuals with a single suicide attempt, and individuals with no history of a suicide attempt. Acute Suicidal Affective Disturbance (ASAD) appears to be a unified construct that predicts suicidal behavior and is distinct from an already-defined mood disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.
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
Convergent paradigms for visual neuroscience and dissociative identity disorder.
Manning, Mark L; Manning, Rana L
2009-01-01
Although dissociative identity disorder, a condition in which multiple individuals appear to inhabit a single body, is a recognized psychiatric disorder, patients may yet encounter health professionals who declare that they simply "do not believe in multiple personalities." This article explores the proposal that resistance to the disorder represents a failure to apply an appropriate paradigm from which the disorder should be interpreted. Trauma and sociocognitive explanations of dissociative identity disorder are contrasted. The trauma hypothesis is further differentiated into paradigms in which trauma affects a defense mechanism, and one in which trauma serves to inhibit the normal integration sequence of parallel processes of the self in childhood. This latter paradigm is shown to be broadly consistent with current models of cortical processing in another system, the cortical visual system.
Facilitating Medication Adherence in Patients with Multiple Sclerosis
Rodriguez, Yolanda; Logan, Diana; Williamson, Caroline; Treadaway, Katherine
2013-01-01
This article reviews adherence to medication in multiple sclerosis (MS) patients from the perspective of nurse and social worker authors. It reviews data on patient adherence and offers practical, evidence-based strategies that health-care providers can use to facilitate adherence. In addition, it examines how emerging MS therapies may affect patient adherence and associated interventions. To promote adherence, interventions need to incorporate new and creative approaches. A proactive approach includes assessing patient needs and lifestyle before the start of medication and selecting the most appropriate disease-modifying therapy for each individual patient. Including multidisciplinary expertise and services in the treatment plan can be part of a comprehensive, holistic approach to helping patients and families. Optimization of health-care provider roles is likely to facilitate improved adherence. PMID:24453761
Gaertner, Lowell; Iuzzini, Jonathan; O’Mara, Erin M.
2008-01-01
Two experiments examined the hypothesis that social rejection and perceived groupness function together to produce multiple-victim incidents of aggression. When a rejecter’s group membership is salient during an act of rejection, the rejectee ostensibly associates the rejecter’s group with rejection and retaliates against the group. Both experiments manipulated whether an aggregate of three persons appeared as separate individuals or members of an entity-like group and whether one of those persons rejected the participant. Consistent with the hypothesis, participants who experienced both rejection and perceived groupness behaved more aggressively against the aggregate (Experiment 1) and evidenced less favorable affective associations toward the aggregate (Experiment 2) than did participants who did not experience both rejection and perceived groupness. PMID:19079568
Cognitive dysfunction in multiple sclerosis: a review of recent developments.
Bobholz, Julie A; Rao, Stephen M
2003-06-01
Nearly half of all patients diagnosed with multiple sclerosis will develop cognitive dysfunction, a symptom associated with significant decline in activities of daily living. The purpose of this review is to discuss recent literature investigating issues related to cognitive dysfunction in multiple sclerosis. Recent studies, examined in this review, have provided increased understanding regarding specific cognitive processes affected in multiple sclerosis, as well as a characterization of its natural history. Studies have also continued to emphasize the extent to which cognitive deficits in the condition are associated with decline in daily living skills. Recent concerns regarding driving performance have been documented among cognitively impaired individuals. Studies have also examined correlates of cognitive dysfunction, with particular emphasis on neuroimaging techniques reflecting disease activity or lesion burden. With increased understanding of neurobiological correlates of cognitive deficits, investigators have begun to examine potential treatments for managing cognitive dysfunction. This area of research has suggested that disease modifying medications can have an impact on magnetic resonance imaging disease activity by altering the cerebral demyelinating process resulting in a slower decline in cognitive functions over time and improved activities of daily living for patients with multiple sclerosis.
Improving the surface metrology accuracy of optical profilers by using multiple measurements
NASA Astrophysics Data System (ADS)
Xu, Xudong; Huang, Qiushi; Shen, Zhengxiang; Wang, Zhanshan
2016-10-01
The performance of high-resolution optical systems is affected by small angle scattering at the mid-spatial-frequency irregularities of the optical surface. Characterizing these irregularities is, therefore, important. However, surface measurements obtained with optical profilers are influenced by additive white noise, as indicated by the heavy-tail effect observable on their power spectral density (PSD). A multiple-measurement method is used to reduce the effects of white noise by averaging individual measurements. The intensity of white noise is determined using a model based on the theoretical PSD of fractal surface measurements with additive white noise. The intensity of white noise decreases as the number of times of multiple measurements increases. Using multiple measurements also increases the highest observed spatial frequency; this increase is derived and calculated. Additionally, the accuracy obtained using multiple measurements is carefully studied, with the analysis of both the residual reference error after calibration, and the random errors appearing in the range of measured spatial frequencies. The resulting insights on the effects of white noise in optical profiler measurements and the methods to mitigate them may prove invaluable to improve the quality of surface metrology with optical profilers.
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.
Gibbs, Lisa; Waters, Elizabeth; Bryant, Richard A; Pattison, Philippa; Lusher, Dean; Harms, Louise; Richardson, John; MacDougall, Colin; Block, Karen; Snowdon, Elyse; Gallagher, Hugh Colin; Sinnott, Vikki; Ireton, Greg; Forbes, David
2013-11-04
Natural disasters represent an increasing threat both in terms of incidence and severity as a result of climate change. Although much is known about individual responses to disasters, much less is known about the social and contextual response and how this interacts with individual trajectories in terms of mental health, wellbeing and social connectedness. The 2009 bushfires in Victoria, Australia caused much loss of life, property destruction, and community disturbance. In order to progress future preparedness, response and recovery, it is crucial to measure and understand the impact of disasters at both individual and community levels. This study aims to profile the range of mental health, wellbeing and social impacts of the Victorian 2009 bushfires over time using multiple methodologies and involving multiple community partners. A diversity of communities including bushfire affected and unaffected will be involved in the study and will include current and former residents (at the time of the Feb 2009 fires). Participants will be surveyed in 2012, 2014 and, funding permitting, in 2016 to map the predictors and outcomes of mental health, wellbeing and social functioning. Ongoing community visits, as well as interviews and focus group discussions in 2013 and 2014, will provide both contextual information and evidence of changing individual and community experiences in the medium to long term post disaster. The study will include adults, adolescents and children over the age of 5. Conducting the study over five years and focussing on the role of social networks will provide new insights into the interplay between individual and community factors and their influence on recovery from natural disaster over time. The study findings will thereby expand understanding of long term disaster recovery needs for individuals and communities.
Organisational stressors, coping, and outcomes in competitive sport.
Arnold, Rachel; Fletcher, David; Daniels, Kevin
2017-04-01
Organisational stressors are associated with positive and negative outcomes in extant literature; however, little is known about which demands predict which outcomes. Extant theory and literature also suggests that coping style may influence an individual's resilience or vulnerability to stressors and, subsequently, their psychological responses and outcomes. The purpose of this study was, therefore, to examine the main effects of organisational stressors and coping styles on various outcomes (e.g., positive and negative affect, performance satisfaction). Sport performers (n = 414) completed measures of organisational stressors, coping styles, positive and negative affect, and performance satisfaction. Multiple regression analyses revealed positive relationships of both goals and development stressors (duration and intensity) and team and culture stressors (frequency and intensity) on negative affect. Furthermore, problem-focused coping was positively related to positive affect, and emotion-focused coping was positively related to negative affect. This study furthers theoretical knowledge regarding the associations that both organisational stressors (and their dimensions) and coping styles can have with various outcomes, and practical understanding regarding the optimal design of stress management interventions.
Muscarella, Miriam; Kranenburg-van Koppen, Laura; Grijpink-van den Biggelaar, Kalinka; Drop, Stenvert L S
2014-01-01
The past 20 years have seen proliferation of electronic (e) resources that promote improved understanding of disorders of sex development (DSD): e-learning for physicians and trainees, e-consultation between clinicians, and e-information for families and affected individuals. Recent e-learning advances have emerged from the European Society for Pediatric Endocrinology's online learning portal for current physicians and trainees. Developed with attention to developing clinical competencies incorporating learning theory, and presenting material that represents international best practice, this e-learning portal offers advances in training, making information more accessible for clinicians and trainees. Multiple levels of instruction, authentic case examples, collaborative forums for physicians and trainees, individualized feedback and user-friendly tools represent advances in trainee and physician learning that can take place in any location. e-consultation is an emerging tool that aims to connect physicians with specialists experienced in DSD care. Although it faces logistical challenges, e-consultation carries the potential to improve DSD care, especially in remote areas with limited access to DSD specialists. e-information for families and patients of all ages is widely accessible online, often with focus on DSD biology, medical care, and psychological and social support. e-information tools aid self-management and support of those affected by DSD. Efforts to improve these resources should aim to map information to individual users, incorporate optimally clear nomenclature, and continue as a 'shared enterprise' of clinicians, affected individuals, families and researchers. Improving the quality of DSD-related e-learning and e-information and developing e-consultation carries the potential to transform DSD care and support for patients, families and physicians worldwide. © 2014 S. Karger AG, Basel.
Altmaier, Elisabeth; Emeny, Rebecca T; Krumsiek, Jan; Lacruz, Maria E; Lukaschek, Karoline; Häfner, Sibylle; Kastenmüller, Gabi; Römisch-Margl, Werner; Prehn, Cornelia; Mohney, Robert P; Evans, Anne M; Milburn, Michael V; Illig, Thomas; Adamski, Jerzy; Theis, Fabian; Suhre, Karsten; Ladwig, Karl-Heinz
2013-08-01
Individuals with negative affectivity who are inhibited in social situations are characterized as distressed, or Type D, and have an increased risk of cardiovascular disease (CVD). The underlying biomechanisms that link this psychological affect to a pathological state are not well understood. This study applied a metabolomic approach to explore biochemical pathways that may contribute to the Type D personality. Type D personality was determined by the Type D Scale-14. Small molecule biochemicals were measured using two complementary mass-spectrometry based metabolomics platforms. Metabolic profiles of Type D and non-Type D participants within a population-based study in Southern Germany were compared in cross-sectional regression analyses. The PHQ-9 and GAD-7 instruments were also used to assess symptoms of depression and anxiety, respectively, within this metabolomic study. 668 metabolites were identified in the serum of 1502 participants (age 32-77); 386 of these individuals were classified as Type D. While demographic and biomedical characteristics were equally distributed between the groups, a higher level of depression and anxiety was observed in Type D individuals. Significantly lower levels of the tryptophan metabolite kynurenine were associated with Type D (p-value corrected for multiple testing=0.042), while no significant associations could be found for depression and anxiety. A Gaussian graphical model analysis enabled the identification of four potentially interesting metabolite networks that are enriched in metabolites (androsterone sulfate, tyrosine, indoxyl sulfate or caffeine) that associate nominally with Type D personality. This study identified novel biochemical pathways associated with Type D personality and demonstrates that the application of metabolomic approaches in population studies can reveal mechanisms that may contribute to psychological health and disease. Copyright © 2012 Elsevier Ltd. All rights reserved.
Alcohol-Induced Developmental Origins of Adult-Onset Diseases
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
Alcohol-Induced Developmental Origins of Adult-Onset Diseases.
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.
Cosme, Danielle; Wiens, Stefan
2015-01-01
As a form of attention, mindfulness is qualitatively receptive and non-reactive, and is thought to facilitate adaptive emotional responding. One suggested mechanism is that mindfulness facilitates disengagement from an affective stimulus and thereby decreases affective reactivity. However, mindfulness has been conceptualized as a state, intervention, and trait. Because evidence is mixed as to whether self-reported trait mindfulness decreases affective reactivity, we used a multi-method approach to study the relationship between individual differences in self-reported trait mindfulness and electrocortical, electrodermal, electromyographic, and self-reported responses to emotional pictures. Specifically, while participants (N = 51) passively viewed pleasant, neutral, and unpleasant IAPS pictures, we recorded high-density (128 channels) electrocortical, electrodermal, and electromyographic data to the pictures as well as to acoustic startle probes presented during the pictures. Afterwards, participants rated their subjective valence and arousal while viewing the pictures again. If trait mindfulness spontaneously reduces general emotional reactivity, then for individuals reporting high rather than low mindfulness, response differences between emotional and neutral pictures would show relatively decreased early posterior negativity (EPN) and late positive potential (LPP) amplitudes, decreased skin conductance responses, and decreased subjective ratings for valence and arousal. High mindfulness would also be associated with decreased emotional modulation of startle eyeblink and P3 amplitudes. Although results showed clear effects of emotion on the dependent measures, in general, mindfulness did not moderate these effects. For most measures, effect sizes were small with rather narrow confidence intervals. These data do not support the hypothesis that individual differences in self-reported trait mindfulness are related to spontaneous emotional responses during picture viewing. PMID:25749431
Jönsson, Anna K.; Lesén, Eva; Mårdby, Ann-Charlotte; Sundell, Karolina Andersson
2016-01-01
Objective Generic substitution has contributed to economic savings but switching products may affect patient adherence, particularly among those using multiple medications. The aim was to analyse if use of multiple medications influenced the association between switching products and refill adherence to angiotensin-converting-enzyme (ACE) inhibitors in Sweden. Study Design and Setting New users of ACE-inhibitors, starting between 1 July 2006 and 30 June 2007, were identified in the Swedish Prescribed Drug Register. Refill adherence was assessed using the continuous measure of medication acquisition (CMA) and analysed with linear regression and analysis of covariance. Results The study population included 42735 individuals whereof 51.2% were exposed to switching ACE-inhibitor and 39.6% used multiple medications. Refill adherence was higher among those exposed to switching products than those not, but did not vary depending on the use of multiple medications or among those not. Refill adherence varied with age, educational level, household income, country of birth, previous hospitalisation and previous cardiovascular diagnosis. Conclusion The results indicate a positive association between refill adherence and switching products, mainly due to generic substitution, among new users of ACE-inhibitors in Sweden. This association was independent of use of multiple medications. PMID:27192203
Differences in dynamic balance scores in one sport versus multiple sport high school athletes.
Gorman, Paul P; Butler, Robert J; Rauh, Mitchell J; Kiesel, Kyle; Plisky, Phillip J
2012-04-01
Researchers have previously reported on the importance of dynamic balance in assessing an individual's risk for injury during sport. However, to date there is no research on whether multiple sport participation affects dynamic balance ability. Therefore, the purpose of this study was to determine if there was a difference in dynamic balance scores in high school athletes that competed in one sport only as compared athletes who competed in multiple sports, as tested by the Lower Quarter Y Balance Test (YBT-LQ). Ninety-two high school athletes who participated in one sport were matched, by age, gender and sport played, to athletes who participated in the same sport as well as additional sports. All individuals were assessed using the YBT-LQ to examine differences in composite reach score and reach direction asymmetry between single sport and multiple sport athletes. The greatest reach distance of three trials in each reach direction for right and left lower-extremities was normalized by limb length and used for analysis. A two-way ANOVA (gender x number of sports played) was used to statistically analyze the variables in the study. No significant interactions or main effects related to number of sports played were observed for any YBT-LQ score (p>0.05). Male athletes exhibited significantly greater normalized reach values for the posteromedial, posterolateral, and composite reach while also exhibiting a larger anterior reach difference when compared to the females. Athletes who participated in multiple sports had similar performances on the YBT-LQ when compared to athletes who participated in a single sport. The findings of this study suggest that the number of sports played by a high school athlete does not need to be controlled for when evaluating dynamic balance with the YBT-LQ.
Serrated pathway colorectal cancer in the population: genetic consideration
Young, Joanne; Jenkins, Mark; Parry, Susan; Young, Bruce; Nancarrow, Derek; English, Dallas; Giles, Graham; Jass, Jeremy
2007-01-01
A significant proportion of colorectal cancer (CRC) develops through the serrated neoplasia pathway. Such tumours show a distinctive molecular phenotype of somatic BRAF mutations and widespread concordant methylation events in CpG islands (CIMP). These features are also observed in the polyps developing in individuals with hyperplastic polyposis syndrome (HPS). In HPS, multiple serrated polyps develop in the colorectum, and approximately 50% of cases present with at least one CRC. Observations of rare affected sibships including identical twins, suggest a recessive or co‐dominant mode of inheritance. In addition, up to 50% of individuals with HPS report a family history of CRC. At a population level, recent work has demonstrated that patients with serrated pathway cancers characterised by BRAF mutation are four times more likely to have a family history of CRC than patients with common CRC. These findings suggest an increased genetic predisposition for serrated pathway CRC in the wider population. We propose that HPS results from the inheritance of two putative co‐dominant alleles in approximately 1 in 2000 individuals. Therefore carriers of one co‐dominant allele may number up to 1 in 25, and it is likely that these carriers are at increased risk of CRC, accounting for, at least in part, the burden of serrated pathway CRC in the population. This proposition may have important implications for screening and prevention of CRC in individuals who have an increased risk for development of serrated pathway cancers, namely those with multiple, proximal, large or advanced serrated polyps, and their relatives. PMID:17566021
Wiley, R H
2013-02-01
Recognition of conspecifics occurs when individuals classify sets of conspecifics based on sensory input from them and associate these sets with different responses. Classification of conspecifics can vary in specificity (the number of individuals included in a set) and multiplicity (the number of sets differentiated). In other words, the information transmitted varies in complexity. Although recognition of conspecifics has been reported in a wide variety of organisms, few reports have addressed the specificity or multiplicity of this capability. This review discusses examples of these patterns, the mechanisms that can produce them, and the evolution of these mechanisms. Individual recognition is one end of a spectrum of specificity, and binary classification of conspecifics is one end of a spectrum of multiplicity. In some cases, recognition requires no more than simple forms of learning, such as habituation, yet results in individually specific recognition. In other cases, recognition of individuals involves complex associations of multiple cues with multiple previous experiences in particular contexts. Complex mechanisms for recognition are expected to evolve only when simpler mechanisms do not provide sufficient specificity and multiplicity to obtain the available advantages. In particular, the evolution of cooperation and deception is always promoted by specificity and multiplicity in recognition. Nevertheless, there is only one demonstration that recognition of specific individuals contributes to cooperation in animals other than primates. Human capacities for individual recognition probably have a central role in the evolution of complex forms of human cooperation and deception. Although relatively little studied, this capability probably rivals cognitive abilities for language. © 2012 The Author. Biological Reviews © 2012 Cambridge Philosophical Society.
Analysis of the thermal balance characteristics for multiple-connected piezoelectric transformers.
Park, Joung-Hu; Cho, Bo-Hyung; Choi, Sung-Jin; Lee, Sang-Min
2009-08-01
Because the amount of power that a piezoelectric transformer (PT) can handle is limited, multiple connections of PTs are necessary for the power-capacity improvement of PT-applications. In the connection, thermal imbalance between the PTs should be prevented to avoid the thermal runaway of each PT. The thermal balance of the multiple-connected PTs is dominantly affected by the electrothermal characteristics of individual PTs. In this paper, the thermal balance of both parallel-parallel and parallel-series connections are analyzed by electrical model parameters. For quantitative analysis, the thermal-balance effects are estimated by the simulation of the mechanical loss ratio between the PTs. The analysis results show that with PTs of similar characteristics, the parallel-series connection has better thermal balance characteristics due to the reduced mechanical loss of the higher temperature PT. For experimental verification of the analysis, a hardware-prototype test of a Cs-Lp type 40 W adapter system with radial-vibration mode PTs has been performed.
Biological auctions with multiple rewards
Reiter, Johannes G.; Kanodia, Ayush; Gupta, Raghav; Nowak, Martin A.; Chatterjee, Krishnendu
2015-01-01
The competition for resources among cells, individuals or species is a fundamental characteristic of evolution. Biological all-pay auctions have been used to model situations where multiple individuals compete for a single resource. However, in many situations multiple resources with various values exist and single reward auctions are not applicable. We generalize the model to multiple rewards and study the evolution of strategies. In biological all-pay auctions the bid of an individual corresponds to its strategy and is equivalent to its payment in the auction. The decreasingly ordered rewards are distributed according to the decreasingly ordered bids of the participating individuals. The reproductive success of an individual is proportional to its fitness given by the sum of the rewards won minus its payments. Hence, successful bidding strategies spread in the population. We find that the results for the multiple reward case are very different from the single reward case. While the mixed strategy equilibrium in the single reward case with more than two players consists of mostly low-bidding individuals, we show that the equilibrium can convert to many high-bidding individuals and a few low-bidding individuals in the multiple reward case. Some reward values lead to a specialization among the individuals where one subpopulation competes for the rewards and the other subpopulation largely avoids costly competitions. Whether the mixed strategy equilibrium is an evolutionarily stable strategy (ESS) depends on the specific values of the rewards. PMID:26180069
Time management in a co-housed social rodent species (Arvicanthis niloticus).
Castillo-Ruiz, Alexandra; Indic, Premananda; Schwartz, William J
2018-01-19
Sociality has beneficial effects on fitness, and timing the activities of animals may be critical. Social cues could influence daily rhythmic activities via direct effects on the circadian clock or on processes that bypass it (masking), but these possibilities remain incompletely addressed. We investigated the effects of social cues on the circadian body temperature (Tb) rhythms in pairs of co-housed and isolated grass rats, Arvicanthis niloticus (a social species), in constant darkness (DD). Cohabitation did not induce synchronization of circadian Tb rhythms. However, socio-sexual history did affect circadian properties: accelerating the clock in sexually experienced males and females in DD and advancing rhythm phase in the females in a light-dark cycle. To address whether synchronization occurs at an ultradian scale, we analyzed Tb and activity rhythms in pairs of co-housed sisters or couples in DD. Regardless of pair type, co-housing doubled the percentage of time individuals were simultaneously active without increasing individual activity levels, suggesting that activity bouts were synchronized by redistribution over 24 h. Together, our laboratory findings show that social cues affect individual "time allocation" budgets via mechanisms at multiple levels of biological organization. We speculate that in natural settings these effects could be adaptive, especially for group-living animals.
Individual language experience modulates rapid formation of cortical memory circuits for novel words
Kimppa, Lilli; Kujala, Teija; Shtyrov, Yury
2016-01-01
Mastering multiple languages is an increasingly important ability in the modern world; furthermore, multilingualism may affect human learning abilities. Here, we test how the brain’s capacity to rapidly form new representations for spoken words is affected by prior individual experience in non-native language acquisition. Formation of new word memory traces is reflected in a neurophysiological response increase during a short exposure to novel lexicon. Therefore, we recorded changes in electrophysiological responses to phonologically native and non-native novel word-forms during a perceptual learning session, in which novel stimuli were repetitively presented to healthy adults in either ignore or attend conditions. We found that larger number of previously acquired languages and earlier average age of acquisition (AoA) predicted greater response increase to novel non-native word-forms. This suggests that early and extensive language experience is associated with greater neural flexibility for acquiring novel words with unfamiliar phonology. Conversely, later AoA was associated with a stronger response increase for phonologically native novel word-forms, indicating better tuning of neural linguistic circuits to native phonology. The results suggest that individual language experience has a strong effect on the neural mechanisms of word learning, and that it interacts with the phonological familiarity of the novel lexicon. PMID:27444206
Death anxiety as a predictor of future time orientation among individuals with spinal cord injuries.
Martz, E; Livneh, H
2003-09-16
The purpose of this study was to examine the relationship between death anxiety and future time orientation among individuals who sustained spinal cord injuries (SCI). Participants were 317 individuals with SCI, of whom 57.4% were US veterans. Data were obtained by means of mailed questionnaires and included responses to the Death Anxiety Scale (DAS), the Future Time Orientation (FTOS) measure, as well as information on participants' personal and disability-related characteristics. A hierarchical multiple regression analysis was conducted to examine the influence of a set of demographic variables, followed by a set of disability-related variables, and finally two factorially-derived measures of death anxiety (denial of death and distressed awareness of death) on future time orientation. Two disability-related variables (pain level and existence of pressure ulcers) and one of the two death anxiety measures (distressed awareness of death) significantly predicted future time orientation. A post-hoc analysis, adding depression as a predictor, was also significant, indicating that an increased level of depression uniquely contributed to a truncated future time orientation. Distressed anxiety and depression may be important factors affecting goals and plans of people with SCI. Future research should attempt to clarify the intricate relationships among negative affectivity, future time orientation, and psychosocial adaptation to SCI.
Lanius, R A; Bluhm, R L; Frewen, P A
2011-11-01
In this review, we examine the relevance of the social cognitive and affective neuroscience (SCAN) paradigm for an understanding of the psychology and neurobiology of complex post-traumatic stress disorder (PTSD) and its effective treatment. The relevant literature pertaining to SCAN and PTSD was reviewed. We suggest that SCAN offers a novel theoretical paradigm for understanding psychological trauma and its numerous clinical outcomes, most notably problems in emotional/self-awareness, emotion regulation, social emotional processing and self-referential processing. A core set of brain regions appear to mediate these collective psychological functions, most notably the cortical midline structures, the amygdala, the insula, posterior parietal cortex and temporal poles, suggesting that problems in one area (e.g. emotional awareness) may relate to difficulties in another (e.g. self-referential processing). We further propose, drawing on clinical research, that the experiences of individuals with PTSD related to chronic trauma often reflect impairments in multiple social cognitive and affective functions. It is important that the assessment and treatment of individuals with complex PTSD not only addresses traumatic memories but also takes a SCAN-informed approach that focuses on the underlying deficits in emotional/self-awareness, emotion regulation, social emotional processing and self-referential processing. © 2011 John Wiley & Sons A/S.
Birth month affects lifetime disease risk: a phenome-wide method.
Boland, Mary Regina; Shahn, Zachary; Madigan, David; Hripcsak, George; Tatonetti, Nicholas P
2015-09-01
An individual's birth month has a significant impact on the diseases they develop during their lifetime. Previous studies reveal relationships between birth month and several diseases including atherothrombosis, asthma, attention deficit hyperactivity disorder, and myopia, leaving most diseases completely unexplored. This retrospective population study systematically explores the relationship between seasonal affects at birth and lifetime disease risk for 1688 conditions. We developed a hypothesis-free method that minimizes publication and disease selection biases by systematically investigating disease-birth month patterns across all conditions. Our dataset includes 1 749 400 individuals with records at New York-Presbyterian/Columbia University Medical Center born between 1900 and 2000 inclusive. We modeled associations between birth month and 1688 diseases using logistic regression. Significance was tested using a chi-squared test with multiplicity correction. We found 55 diseases that were significantly dependent on birth month. Of these 19 were previously reported in the literature (P < .001), 20 were for conditions with close relationships to those reported, and 16 were previously unreported. We found distinct incidence patterns across disease categories. Lifetime disease risk is affected by birth month. Seasonally dependent early developmental mechanisms may play a role in increasing lifetime risk of disease. © The Author 2015. Published by Oxford University Press on behalf of the American Medical Informatics Association.
Alternative splicing at the intersection of biological timing, development, and stress responses.
Staiger, Dorothee; Brown, John W S
2013-10-01
High-throughput sequencing for transcript profiling in plants has revealed that alternative splicing (AS) affects a much higher proportion of the transcriptome than was previously assumed. AS is involved in most plant processes and is particularly prevalent in plants exposed to environmental stress. The identification of mutations in predicted splicing factors and spliceosomal proteins that affect cell fate, the circadian clock, plant defense, and tolerance/sensitivity to abiotic stress all point to a fundamental role of splicing/AS in plant growth, development, and responses to external cues. Splicing factors affect the AS of multiple downstream target genes, thereby transferring signals to alter gene expression via splicing factor/AS networks. The last two to three years have seen an ever-increasing number of examples of functional AS. At a time when the identification of AS in individual genes and at a global level is exploding, this review aims to bring together such examples to illustrate the extent and importance of AS, which are not always obvious from individual publications. It also aims to ensure that plant scientists are aware that AS is likely to occur in the genes that they study and that dynamic changes in AS and its consequences need to be considered routinely.
Staiger, Dorothee; Brown, John W.S.
2013-01-01
High-throughput sequencing for transcript profiling in plants has revealed that alternative splicing (AS) affects a much higher proportion of the transcriptome than was previously assumed. AS is involved in most plant processes and is particularly prevalent in plants exposed to environmental stress. The identification of mutations in predicted splicing factors and spliceosomal proteins that affect cell fate, the circadian clock, plant defense, and tolerance/sensitivity to abiotic stress all point to a fundamental role of splicing/AS in plant growth, development, and responses to external cues. Splicing factors affect the AS of multiple downstream target genes, thereby transferring signals to alter gene expression via splicing factor/AS networks. The last two to three years have seen an ever-increasing number of examples of functional AS. At a time when the identification of AS in individual genes and at a global level is exploding, this review aims to bring together such examples to illustrate the extent and importance of AS, which are not always obvious from individual publications. It also aims to ensure that plant scientists are aware that AS is likely to occur in the genes that they study and that dynamic changes in AS and its consequences need to be considered routinely. PMID:24179132
Bio-psycho-social factors affecting sexual self-concept: A systematic review.
Potki, Robabeh; Ziaei, Tayebe; Faramarzi, Mahbobeh; Moosazadeh, Mahmood; Shahhosseini, Zohreh
2017-09-01
Nowadays, it is believed that mental and emotional aspects of sexual well-being are the important aspects of sexual health. Sexual self-concept is a major component of sexual health and the core of sexuality. It is defined as the cognitive perspective concerning the sexual aspects of 'self' and refers to the individual's self-perception as a sexual creature. The aim of this study was to assess the different factors affecting sexual self-concept. English electronic databases including PubMed, Scopus, Web of Science and Google Scholar as well as two Iranian databases including Scientific Information Database and Iranmedex were searched for English and Persian-language articles published between 1996 and 2016. Of 281 retrieved articles, 37 articles were finally included for writing this review article. Factors affecting sexual self-concept were categorized to biological, psychological and social factors. In the category of biological factors, age gender, marital status, race, disability and sexual transmitted infections are described. In the psychological category, the impact of body image, sexual abuse in childhood and mental health history are present. Lastly, in the social category, the roles of parents, peers and the media are discussed. As the development of sexual self-concept is influenced by multiple events in individuals' lives, to promotion of sexual self-concept, an integrated implementation of health policies is recommended.
Valsecchi, Paola; Natoli, Eugenia
2014-01-01
Mating and reproductive outcome is often determined by the simultaneous operation of different mechanisms like intra-sexual competition, mating preferences and sexual coercion. The present study investigated how social variables affected mating outcome in a pack of free-ranging dogs, a species supposed to have lost most features of the social system of wolves during domestication. We found that, although the pack comprised multiple breeding individuals, both male copulation success and female reproductive success were positively influenced by a linear combination of dominance rank, age and leadership. Our results also suggest that mate preferences affect mating outcome by reinforcing the success of most dominant individuals. In particular, during their oestrous period bitches clearly searched for the proximity of high-ranking males who displayed affiliative behaviour towards them, while they were more likely to reject the males who intimidated them. At the same time, male courting effort and male-male competition for receptive females appeared to be stronger in the presence of higher-ranking females, suggesting a male preference for dominant females. To our knowledge, these results provide the first clear evidence of social regulation of reproductive activities in domestic dogs, and suggest that some common organizing mechanisms may contribute to shape the social organization of both dogs and wolves. PMID:24905360
Caregiver Perspectives of Stigma Associated With Sickle Cell Disease in Adolescents.
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.
Focazio, M.J.; Speiran, G.K.
1993-01-01
The groundwater-flow system of the Virginia Coastal Plain consists of areally extensive and interconnected aquifers. Large, regionally coalescing cones of depression that are caused by large withdrawals of water are found in these aquifers. Local groundwater systems are affected by regional pumping, because of the interactions within the system of aquifers. Accordingly, these local systems are affected by regional groundwater flow and by spatial and temporal differences in withdrawals by various users. A geographic- information system was used to refine a regional groundwater-flow model around selected withdrawal centers. A method was developed in which drawdown maps that were simulated by the regional groundwater-flow model and the principle of superposition could be used to estimate drawdown at local sites. The method was applied to create drawdown maps in the Brightseat/Upper Potomac Aquifer for periods of 3, 6, 9, and 12 months for Chesapeake, Newport News, Norfolk, Portsmouth, Suffolk, and Virginia Beach, Virginia. Withdrawal rates were supplied by the individual localities and remained constant for each simulation period. This provides an efficient method by which the individual local groundwater users can determine the amount of drawdown produced by their wells in a groundwater system that is a water source for multiple users and that is affected by regional-flow systems.
Obesity is a concern for bone health with aging.
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.
Obesity is a concern for bone health with aging
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
Cognitive Affective Engagement Model of Multiple Source Use
ERIC Educational Resources Information Center
List, Alexandra; Alexander, Patricia A.
2017-01-01
This article introduces the cognitive affective engagement model (CAEM) of multiple source use. The CAEM is presented as a way of unifying cognitive and behaviorally focused models of multiple text engagement with research on the role of affective factors (e.g., interest) in text processing. The CAEM proposes that students' engagement with…
Post-traumatic stress disorder.
Bisson, Jonathan I
2007-08-01
Post-traumatic stress disorder (PTSD) may affect 10% of women and 5% of men at some stage, and symptoms may persist for several years. Risk factors include major trauma, lack of social support, peritraumatic dissociation, and psychiatric or personality factors. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of interventions to prevent; and to treat PTSD? We searched: Medline, Embase, The Cochrane Library and other important databases up to December 2006 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 36 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: affect management, antiepileptic drugs, antihypertensive drugs, benzodiazepines, brofaromine, carbamazepine, CBT, drama therapy, eye movement desensitisation and reprocessing, fluoxetine, group therapy, hydrocortisone, hypnotherapy, inpatient treatment programmes, internet-based psychotherapy, mirtazepine, multiple-session CBT, multiple-session collaborative trauma support, multiple-session education, nefazodone, olanzapine, paroxetine, phenelzine, propranolol, psychodynamic psychotherapy, risperidone, SSRIss, sertraline, single-session group debriefing, single-session individual debriefing, supportive psychotherapy, supportive counselling, temazepam, tricyclic antidepressants, venlafaxine.
McClurg, Doreen; Bugge, Carol; Elders, Andrew; Irshad, Tasneem; Hagen, Suzanne; Moore, Katherine N; Buckley, Brian; Fader, Mandy
2018-04-01
Clean intermittent catheterisation (CIC) is often recommended for people with multiple sclerosis (MS). To determine the variables that affect continuation or discontinuation of the use of CIC. A three-part mixed-method study (prospective longitudinal cohort ( n = 56), longitudinal qualitative interviews ( n = 20) and retrospective survey ( n = 456)) was undertaken, which identified the variables that influenced CIC continuation/discontinuation. The potential explanatory variables investigated in each study were the individual's age, gender, social circumstances, number of urinary tract infections, bladder symptoms, presence of co-morbidity, stage of multiple sclerosis and years since diagnosis, as well as CIC teaching method and intensity. For some people with MS the prospect of undertaking CIC is difficult and may take a period of time to accept before beginning the process of using CIC. Ongoing support from clinicians, support at home and a perceived improvement in symptoms such as nocturia were positive predictors of continuation. In many cases, the development of a urinary tract infection during the early stages of CIC use had a significant detrimental impact on continuation. Procedures for reducing the incidence of urinary tract infection during the learning period (i.e. when being taught and becoming competent) should be considered, as well as the development of a tool to aid identification of a person's readiness to try CIC.
Dasenbrock, Hormuzdiyar H; Smith, Seth A; Ozturk, Arzu; Farrell, Sheena K; Calabresi, Peter A; Reich, Daniel S
2011-04-01
Visual disability is common in multiple sclerosis, but its relationship to abnormalities of the optic tracts remains unknown. Because they are only rarely affected by lesions, the optic tracts may represent a good model for assessing the imaging properties of normal-appearing white matter in multiple sclerosis. Whole-brain diffusion tensor imaging was performed on 34 individuals with multiple sclerosis and 26 healthy volunteers. The optic tracts were reconstructed by tractography, and tract-specific diffusion indices were quantified. In the multiple-sclerosis group, peripapillary retinal nerve-fiber-layer thickness and total macular volume were measured by optical coherence tomography, and visual acuity at 100%, 2.5%, and 1.25% contrast was examined. After adjusting for age and sex, optic-tract mean and perpendicular diffusivity were higher (P=.002) in multiple sclerosis. Lower optic-tract fractional anisotropy was correlated with retinal nerve-fiber-layer thinning (r=.51, P=.003) and total-macular-volume reduction (r=.59, P=.002). However, optic-tract diffusion indices were not specifically correlated with visual acuity or with their counterparts in the optic radiation. Optic-tract diffusion abnormalities are associated with retinal damage, suggesting that both may be related to optic-nerve injury, but do not appear to contribute strongly to visual disability in multiple sclerosis. Copyright © 2010 by the American Society of Neuroimaging.
Dasenbrock, Hormuzdiyar H.; Smith, Seth A.; Ozturk, Arzu; Farrell, Sheena K.; Calabresi, Peter A.; Reich, Daniel S.
2009-01-01
Background and purpose Visual disability is common in multiple sclerosis, but its relationship to abnormalities of the optic tracts remains unknown. Because they are only rarely affected by lesions, the optic tracts may represent a good model for assessing the imaging properties of normal-appearing white matter in multiple sclerosis. Methods Whole-brain diffusion tensor imaging was performed on 34 individuals with multiple sclerosis and 26 healthy volunteers. The optic tracts were reconstructed by tractography, and tract-specific diffusion indices were quantified. In the multiple-sclerosis group, peripapillary retinal nerve-fiber-layer thickness and total macular volume were measured by optical coherence tomography, and visual acuity at 100%, 2.5%, and 1.25% contrast was examined. Results After adjusting for age and sex, optic-tract mean and perpendicular diffusivity were higher (p=0.002) in multiple sclerosis. Lower optic-tract fractional anisotropy was correlated with retinal nerve-fiber-layer thinning (r=0.51, p=0.003) and total-macular-volume reduction (r=0.59, p=0.002). However, optic-tract diffusion indices were not specifically correlated with visual acuity or with their counterparts in the optic radiation. Conclusions Optic-tract diffusion abnormalities are associated with retinal damage, suggesting that both may be related to optic-nerve injury, but do not appear to contribute strongly to visual disability in multiple sclerosis. PMID:20331501
Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the ... attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...
NASA Astrophysics Data System (ADS)
Bi, R.; Liu, H.
2016-02-01
Understanding how biological components respond to environmental changes could be insightful to predict ecosystem trajectories under different climate scenarios. Zooplankton are key components of marine ecosystems and changes in their dynamics could have major impact on ecosystem structure. We developed an individual-based model of a common coastal calanoid copepod Acartia tonsa to examine how environmental factors affect zooplankton population dynamics and explore the role of individual variability in sustaining population under various environmental conditions consisting of temperature, food concentration and salinity. Total abundance, egg production and proportion of survival were used to measure population success. Results suggested population benefits from high level of individual variability under extreme environmental conditions including unfavorable temperature, salinity, as well as low food concentration, and selection on fast-growers becomes stronger with increasing individual variability and increasing environmental stress. Multiple regression analysis showed that temperature, food concentration, salinity and individual variability have significant effects on survival of A. tonsa population. These results suggest that environmental factors have great influence on zooplankton population, and individual variability has important implications for population survivability under unfavorable conditions. Given that marine ecosystems are at risk from drastic environmental changes, understanding how individual variability sustains populations could increase our capability to predict population dynamics in a changing environment.
From Jollibee to BeeBee: "lifestyle" and chronic illness in Southeast Asia.
Manderson, Lenore; Naemiratch, Bhensri
2010-07-01
Throughout Southeast Asia, the number of people living with chronic conditions and degenerative disease has increased proportionately and absolutely. Public health interventions and effective medical treatment and surgeries have increased life expectancy. Concurrently, social and economic conditions have led to the rapid escalation of lifelong illnesses, characterized as "lifestyle" conditions. Drawing on ethnographic and survey research conducted in Southeast Asia, the authors illustrate the multiple factors contributing to people's health. Changes in food production; the organization, nature, and conditions of work; living conditions; and other factors affecting contemporary living increase vulnerability to noncommunicable diseases. These factors are largely beyond the control of most people. Efforts to reduce chronic illnesses predominantly focus on individual interventions, overlooking the lack of individual capacity to address the structural and institutional factors that compromise people's health.
Lucas, Stephen M.; Druss, Benjamin G.
2013-01-01
Stigma against mental illness is a complex construct with affective, cognitive, and behavioral components. Beyond its symbolic value, federal law can only directly address one component of stigma: discrimination. This article reviews three landmark antidiscrimination laws that expanded protections over time for individuals with mental illness. Despite these legislative advances, protections are still not uniform for all subpopulations with mental illness. Furthermore, multiple components of stigma (e.g., prejudice) are beyond the reach of legislation, as demonstrated by the phenomenon of label avoidance; individuals may not seek protection from discrimination because of fear of the stigma that may ensue after disclosing their mental illness. To yield the greatest improvements, antidiscrimination laws must be coupled with antistigma programs that directly address other components of stigma. PMID:23488484
Neurocognitive function in an extended Afrikaner-ancestry family with affective illness
Savitz, Jonathan; van der Merwe, Lize; Solms, Mark; Ramesar, Rajkumar
2007-01-01
Objective To characterize the neuropsychological profile of an extended family with unipolar depression (UPD) and other forms of affective illness. Method We administered a battery of neuropsychological tasks measuring various aspects of executive function and visual and verbal memory to 49 individuals in 1 extended family. Six participants had 1 lifetime episode of major depression (MDE-S), 15 were diagnosed with recurrent major depression (MDE-R), 11 had another DSM-IV diagnosis and 17 subjects were unaffected. Results After controlling for multiple confounding factors, including mood and medication, the MDE-R sample made significantly more errors than unaffected relatives on the Stroop Task, a measure of cognitive control. Conclusion There may be at least 1 subtype of UPD characterized by a state-independent deficit in cognitive control. PMID:17353940
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.
NASA Technical Reports Server (NTRS)
Damos, D. L.
1984-01-01
Human factors practitioners often are concerned with mental workload in multiple-task situations. Investigations of these situations have demonstrated repeatedly that individuals differ in their subjective estimates of workload. These differences may be attributed in part to individual differences in definitions of workload. However, after allowing for differences in the definition of workload, there are still unexplained individual differences in workload ratings. The relation between individual differences in multiple-task performance, subjective estimates of workload, information processing abilities, and the Type A personality trait were examined.
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.
The effect of personality dimensions on functional outcomes in mood disorders.
Leen, Jessica; Soczynska, Joanna K; Gallaugher, Laura Ashley; Woldeyohannes, Hanna O; Alsuwaidan, Mohammad T; Cha, Danielle S; Dale, Roman M; Muzina, David J; Kennedy, Sidney H; McIntyre, Roger S
2013-07-01
Functional impairment associated with mood disorders may be related to a characteristic "profile" of normative personality dimensions. Individuals (age ≥ 18 years) with MDD (n = 400) or BD (n = 317), as defined by the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR), were enrolled in the IMDCP. Personality was evaluated with the Neuroticism-Extraversion-Openness Five-Factor Inventory (NEO-FFI), and functionality with the Sheehan Disability Scale and Endicott Work Productivity Scale. Path analysis using linear multiple regressions was performed to identify direct and indirect effects of personality on functional impairment. Lower conscientiousness exerted a significant direct effect on global (p = 0.017) and family life dysfunction in individuals with MDD (p = 0.002), as well as lower work productivity in both MDD (p = 0.020) and BD (p = 0.018). Lower extraversion exerted a significant direct effect on social impairment in individuals with BD (p = 0.017). Higher neuroticism and agreeableness as well as lower extraversion exerted indirect effects on global and social dysfunction in individuals with MDD via their effects on depression severity. In BD, higher neuroticism and openness indirectly affected global dysfunction. Family dysfunction was indirectly affected by higher neuroticism and openness as well as lower extraversion in MDD and BD. The results suggest that discrete personality dimensions may exert direct and indirect effects on functional outcomes in individuals with mood disorders. Personalizing disease management approaches in mood disorders with emphasis on vocational rehabilitation may benefit from measurement and intervention targeting personality.
A review of environmental impacts of salts from produced waters on aquatic resources
Farag, Aïda M.; Harper, David D.
2014-01-01
Salts are frequently a major constituent of waste waters produced during oil and gas production. These produced waters or brines must be treated and/or disposed and provide a daily challenge for operators and resource managers. Some elements of salts are regulated with water quality criteria established for the protection of aquatic wildlife, e.g. chloride (Cl−), which has an acute standard of 860 mg/L and a chronic standard of 230 mg/L. However, data for establishing such standards has only recently been studied for other components of produced water, such as bicarbonate (HCO3−), which has acute median lethal concentrations (LC50s) ranging from 699 to > 8000 mg/L and effects on chronic toxicity from 430 to 657 mg/L. While Cl− is an ion of considerable importance in multiple geographical regions, knowledge about the effects of hardness (calcium and magnesium) on its toxicity and about mechanisms of toxicity is not well understood. A multiple-approach design that combines studies of both individuals and populations, conducted both in the laboratory and the field, was used to study toxic effects of bicarbonate (as NaHCO3). This approach allowed interpretations about mechanisms related to growth effects at the individual level that could affect populations in the wild. However, additional mechanistic data for HCO3−, related to the interactions of calcium (Ca2 +) precipitation at the microenvironment of the gill would dramatically increase the scientific knowledge base about how NaHCO3 might affect aquatic life. Studies of the effects of mixtures of multiple salts present in produced waters and more chronic effect studies would give a better picture of the overall potential toxicity of these ions. Organic constituents in hydraulic fracturing fluids, flowback waters, etc. are a concern because of their carcinogenic properties and this paper is not meant to minimize the importance of maintaining vigilance with respect to potential organic contamination.
Williams, Allison F; Manias, Elizabeth; Walker, Rowan
2008-12-01
Individuals are adherent to approximately 50% of their prescribed medications, which decreases when multiple, chronic conditions are involved. To examine factors affecting adherence to multiple prescribed medications for consumers with co-existing diabetes and chronic kidney disease (diabetic kidney disease) from the time of prescription to the time they took their medications. A descriptive exploratory design was used incorporating in-depth interviews and focus groups. The diabetes and nephrology departments of two metropolitan, public hospitals in Melbourne, Australia. A convenience sample of 23 consumers with diabetic kidney disease participated in an in-depth interview. Inclusion criteria involved English-speaking individuals, aged > or =18 years, with co-existing diabetes and chronic kidney disease, and who were mentally competent. Exclusion criteria included impending commencement on dialysis, pregnancy, an aggressive form of cancer, or a mental syndrome that was not stabilised with medication. Sixteen health professionals working in diabetes and nephrology departments in Melbourne, Australia also participated in one of two focus groups. In-depth structured interviews and focus groups were conducted and analysed according to a model of medication adherence. Consumers were not convinced of the need, effectiveness and safety of all of their medications. Alternatively, health professionals focussed on the importance of consumers taking their medications as prescribed and believed that the risk of medication-related adverse effects was over-rated. Accessing prescribed medications and difficulties surrounding continuity of care contributed to consumers' unintentional medication non-adherence. In particular, it was hard for consumers to persist taking their ongoing medication prescriptions. Healthcare system inadequacies were highlighted, which affected relationships between consumers with diabetic kidney disease and health professionals. Acknowledging the barriers as perceived by consumers with diabetic kidney disease can facilitate effective communication and partnerships with health professionals necessary for medication adherence and medication safety.
ERIC Educational Resources Information Center
Tam, Gee May; Phillips, Katrina J.; Mudford, Oliver C.
2011-01-01
We replicated and extended previous research on microswitch facilitated choice making by individuals with profound multiple disabilities. Following an assessment of stimulus preferences, we taught 6 adults with profound multiple disabilities to emit 2 different responses to activate highly preferred stimuli. All participants learnt to activate…
Gouvêa, Devin Y.; Aprison, Erin Z.; Ruvinsky, Ilya
2015-01-01
Natural environments are considerably more variable than laboratory settings and often involve transient exposure to stressful conditions. To fully understand how organisms have evolved to respond to any given stress, prior experience must therefore be considered. We investigated the effects of individual and ancestral experience on C. elegans reproduction. We documented ways in which cultivation at 15°C or 25°C affects developmental time, lifetime fecundity, and reproductive performance after severe heat stress that exceeds the fertile range of the organism but is compatible with survival and future fecundity. We found that experience modulates multiple aspects of reproductive physiology, including the male and female germ lines and the interaction between them. These responses vary in their environmental sensitivity, suggesting the existence of complex mechanisms for coping with unpredictable and stressful environments. PMID:26713620
Causes, effects and connectivity changes in MS-related cognitive decline.
Rimkus, Carolina de Medeiros; Steenwijk, Martijn D; Barkhof, Frederik
2016-01-01
Cognitive decline is a frequent but undervalued aspect of multiple sclerosis (MS). Currently, it remains unclear what the strongest determinants of cognitive dysfunction are, with grey matter damage most directly related to cognitive impairment. Multi-parametric studies seem to indicate that individual factors of MS-pathology are highly interdependent causes of grey matter atrophy and permanent brain damage. They are associated with intermediate functional effects (e.g. in functional MRI) representing a balance between disconnection and (mal) adaptive connectivity changes. Therefore, a more comprehensive MRI approach is warranted, aiming to link structural changes with functional brain organization. To better understand the disconnection syndromes and cognitive decline in MS, this paper reviews the associations between MRI metrics and cognitive performance, by discussing the interactions between multiple facets of MS pathology as determinants of brain damage and how they affect network efficiency.
Gonzalez, Raul; Schuster, Randi M.; Vassileva, Jasmin; Martin, Eileen M.
2013-01-01
Marijuana (MJ) use and HIV infection are both associated with neurocognitive deficits, yet there is little research to date examining their interactions, specifically how they pertain to procedural learning (PL). We examined a sample of 86 individuals with a history of dependence for multiple substances who underwent a comprehensive evaluation including measures of mental health, substance use history, and three measures of PL: the photoelectric Rotary Pursuit Task (RPT), the Star Mirror Tracing Task (SMT), and the Weather Prediction Task (WPT). We found that a positive HIV serostatus and a history of marijuana dependence were both independently associated with overall poorer performance on the SMT and RPT in this sample of individuals with a history of dependence for multiple substances. Rate of improvement across trial blocks did not differ as a function of HIV serostatus or history of marijuana dependence. Although we found no significant HIV × MJ interaction for any of the PL tasks, we did observe evidence of additive negative effects from HIV and a history of marijuana dependence on overall performance on the SMT and RPT, but not the WPT. The findings suggest that complex motor skills are adversely affected among abstinent polysubstance users with a history of marijuana dependence and that such deficits are compounded by HIV. PMID:21480022
Climate change and freshwater ecosystems: impacts across multiple levels of organization
Woodward, Guy; Perkins, Daniel M.; Brown, Lee E.
2010-01-01
Fresh waters are particularly vulnerable to climate change because (i) many species within these fragmented habitats have limited abilities to disperse as the environment changes; (ii) water temperature and availability are climate-dependent; and (iii) many systems are already exposed to numerous anthropogenic stressors. Most climate change studies to date have focused on individuals or species populations, rather than the higher levels of organization (i.e. communities, food webs, ecosystems). We propose that an understanding of the connections between these different levels, which are all ultimately based on individuals, can help to develop a more coherent theoretical framework based on metabolic scaling, foraging theory and ecological stoichiometry, to predict the ecological consequences of climate change. For instance, individual basal metabolic rate scales with body size (which also constrains food web structure and dynamics) and temperature (which determines many ecosystem processes and key aspects of foraging behaviour). In addition, increasing atmospheric CO2 is predicted to alter molar CNP ratios of detrital inputs, which could lead to profound shifts in the stoichiometry of elemental fluxes between consumers and resources at the base of the food web. The different components of climate change (e.g. temperature, hydrology and atmospheric composition) not only affect multiple levels of biological organization, but they may also interact with the many other stressors to which fresh waters are exposed, and future research needs to address these potentially important synergies. PMID:20513717
Ward, John; Sorrels, Ken; Coats, Jesse; Pourmoghaddam, Amir; Deleon, Carlos; Daigneault, Paige
2014-03-01
The purpose of this study was to pilot test our study procedures and estimate parameters for sample size calculations for a randomized controlled trial to determine if bilateral sacroiliac (SI) joint manipulation affects specific gait parameters in asymptomatic individuals with a leg length inequality (LLI). Twenty-one asymptomatic chiropractic students engaged in a baseline 90-second walking kinematic analysis using infrared Vicon® cameras. Following this, participants underwent a functional LLI test. Upon examination participants were classified as: left short leg, right short leg, or no short leg. Half of the participants in each short leg group were then randomized to receive bilateral corrective SI joint chiropractic manipulative therapy (CMT). All participants then underwent another 90-second gait analysis. Pre- versus post-intervention gait data were then analyzed within treatment groups by an individual who was blinded to participant group status. For the primary analysis, all p-values were corrected for multiple comparisons using the Bonferroni method. Within groups, no differences in measured gait parameters were statistically significant after correcting for multiple comparisons. The protocol of this study was acceptable to all subjects who were invited to participate. No participants refused randomization. Based on the data collected, we estimated that a larger main study would require 34 participants in each comparison group to detect a moderate effect size.
Disruptions in Energy Balance: Does Nature overcome Nurture?
Fernández, José R.; Casazza, Krista; Divers, Jasmin; López-Alarcón, Mardya
2008-01-01
Fat accumulation, in general, is the result of a breakdown in the homeostatic regulation of energy balance. Although, the specific factors influencing the disruption of energy balance and why these factors affect individuals differently are not completely understood, numerous studies have identified multiple contributors. Environmental components influence food acquisition, eating, and lifestyle habits. However, the variability in obesity-related outcomes observed among individuals placed in similar controlled environments support the notion that genetic components also wield some control. Multiple genetic regions have been associated with measures related to energy balance; however, the replication of these genetic contributors to energy intake and energy expenditure in humans is relatively small perhaps because of the heterogeneity of human populations. Genetic tools such as genetic admixture account for individual’s genetic background in gene association studies, reducing the confounding effect of population stratification, and promise to be a relevant tool on the identification of genetic contributions to energy balance, particularly among individuals of diverse racial/ethnic backgrounds. Although it has been recognized that genes are expressed according to environmental influences, the search toward the understanding of nature and nurture in obesity will require the detailed study of the effect of genes under diverse physiologic and behavioral environments. It is evident that more research is needed to elucidate the methodological and statistical issues that underlie the interactions between genes and environments in obesity and its related comorbidities. PMID:18096193
ERIC Educational Resources Information Center
Eldeniz Çetin, Müzeyyen; Safak, Pinar
2017-01-01
The general purpose of the present study is to determine the relationship between direct and indirect preference assessments of individuals with severe and multiple disabilities (SMD) and the relationship between the direct preference assessments (single-stimulus, paired-stimulus, and multiple-stimulus) as applied to individuals with SMD, and to…
Smith, Stacey Allison; McKee, Jerry R
2004-06-01
Describe the impact of newer antiepileptic drugs (AEDs) on prescribing practices in a large, residential intermediate-care facility for the mentally retarded (ICF-MR), with onsite clinical pharmacist support services, over a 15-year period. All residents at the facility receiving AEDs for management of seizure disorder were included in this retrospective assessment. Number and type of AEDs used per individual were recorded and analyzed over the 15-year interval. Current prescribing practices were evaluated regarding rational polytherapy prescribing trends. 400-bed residential ICF-MR for the severe to profoundly mentally retarded. All individuals residing at the ICF-MR facility receiving AED therapy for a seizure disorder. Residents were primarily in the severe to profound range of developmental disability, with multiple medical comorbidities. Clinical pharmacists actively participate in all treatment teams and monthly neurology clinic to promote and encourage rational pharmacotherapy. Prescribing trends related to AED therapy were followed over a 15-year period. Comparisons were made regarding monotherapy and polytherapy at multiple-year intervals, with specific emphasis on how the newer generation AEDs have affected use of older medications. Overall trend from 1988 suggests more monotherapy and less use of barbiturates. Introduction of a new generation of AEDs has not affected the overall trend toward one- or two-drug regimens over the period in review. The relative stability of the number of AEDs per resident during the introduction of a new generation of AEDs suggests that as new drugs are added, ineffective or problem-prone drugs are discontinued.
Gaines, Linda G T; Fent, Kenneth W; Flack, Sheila L; Thomasen, Jennifer M; Whittaker, Stephen G; Nylander-French, Leena A
2011-01-01
Although urinary 1,6-hexamethylene diamine (HDA) is a useful biomarker of exposure to 1,6-hexamethylene diisocyanate (HDI), a large degree of unexplained intra- and inter-individual variability exists between estimated HDI exposure and urine HDA levels. We investigated the effect of individual and workplace factors on urine HDA levels using quantitative dermal and inhalation exposure data derived from a survey of automotive spray painters exposed to HDI. Painters' dermal and breathing-zone HDI-exposures were monitored over an entire workday for up to three separate workdays, spaced approximately one month apart. One urine sample was collected before the start of work with HDI-containing paints, and multiple samples were collected throughout the workday. Using mixed effects multiple linear regression modeling, coverall use resulted in significantly lower HDA levels (p = 0.12), and weekday contributed to significant variability in HDA levels (p = 0.056). We also investigated differences in urine HDA levels stratified by dichotomous and classification covariates using analysis of variance. Use of coveralls (p = 0.05), respirator type worn (p = 0.06), smoker status (p = 0.12), paint-booth type (p = 0.02), and more than one painter at the shop (p = 0.10) were all found to significantly affect urine HDA levels adjusted for creatinine concentration. Coverall use remained significant (p = 0.10), even after adjusting for respirator type. These results indicate that the variation in urine HDA level is mainly due to workplace factors and that appropriate dermal and inhalation protection is required to prevent HDI exposure.
Feichtinger, René G; Oláhová, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A; Thompson, Kyle; D'Souza, Aaron R; Kopajtich, Robert; Alston, Charlotte L; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M; Wortmann, Saskia B; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F; Chrzanowska-Lightowlers, Zofia M; Lightowlers, Robert N; DiMauro, Salvatore; Calvo, Sarah E; Mootha, Vamsi K; Moggio, Maurizio; Sciacco, Monica; Comi, Giacomo P; Ronchi, Dario; Murayama, Kei; Ohtake, Akira; Rebelo-Guiomar, Pedro; Kohda, Masakazu; Kang, Dongchon; Mayr, Johannes A; Taylor, Robert W; Okazaki, Yasushi; Minczuk, Michal; Prokisch, Holger
2017-10-05
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure. Although C1QBP has been reported to exert pleiotropic effects on many cellular processes, we report here four individuals from unrelated families where biallelic mutations in C1QBP cause a defect in mitochondrial energy metabolism. Infants presented with cardiomyopathy accompanied by multisystemic involvement (liver, kidney, and brain), and children and adults presented with myopathy and progressive external ophthalmoplegia. Multiple mitochondrial respiratory-chain defects, associated with the accumulation of multiple deletions of mitochondrial DNA in the later-onset myopathic cases, were identified in all affected individuals. Steady-state C1QBP levels were decreased in all individuals' samples, leading to combined respiratory-chain enzyme deficiency of complexes I, III, and IV. C1qbp -/- mouse embryonic fibroblasts (MEFs) resembled the human disease phenotype by showing multiple defects in oxidative phosphorylation (OXPHOS). Complementation with wild-type, but not mutagenized, C1qbp restored OXPHOS protein levels and mitochondrial enzyme activities in C1qbp -/- MEFs. C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectrum ranging from infantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.
Zheng, Jie; Rodriguez, Santiago; Laurin, Charles; Baird, Denis; Trela-Larsen, Lea; Erzurumluoglu, Mesut A; Zheng, Yi; White, Jon; Giambartolomei, Claudia; Zabaneh, Delilah; Morris, Richard; Kumari, Meena; Casas, Juan P; Hingorani, Aroon D; Evans, David M; Gaunt, Tom R; Day, Ian N M
2017-01-01
Fine mapping is a widely used approach for identifying the causal variant(s) at disease-associated loci. Standard methods (e.g. multiple regression) require individual level genotypes. Recent fine mapping methods using summary-level data require the pairwise correlation coefficients ([Formula: see text]) of the variants. However, haplotypes rather than pairwise [Formula: see text], are the true biological representation of linkage disequilibrium (LD) among multiple loci. In this article, we present an empirical iterative method, HAPlotype Regional Association analysis Program (HAPRAP), that enables fine mapping using summary statistics and haplotype information from an individual-level reference panel. Simulations with individual-level genotypes show that the results of HAPRAP and multiple regression are highly consistent. In simulation with summary-level data, we demonstrate that HAPRAP is less sensitive to poor LD estimates. In a parametric simulation using Genetic Investigation of ANthropometric Traits height data, HAPRAP performs well with a small training sample size (N < 2000) while other methods become suboptimal. Moreover, HAPRAP's performance is not affected substantially by single nucleotide polymorphisms (SNPs) with low minor allele frequencies. We applied the method to existing quantitative trait and binary outcome meta-analyses (human height, QTc interval and gallbladder disease); all previous reported association signals were replicated and two additional variants were independently associated with human height. Due to the growing availability of summary level data, the value of HAPRAP is likely to increase markedly for future analyses (e.g. functional prediction and identification of instruments for Mendelian randomization). The HAPRAP package and documentation are available at http://apps.biocompute.org.uk/haprap/ CONTACT: : jie.zheng@bristol.ac.uk or tom.gaunt@bristol.ac.ukSupplementary information: Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press.
Macroscopic brain dynamics during verbal and pictorial processing of affective stimuli.
Keil, Andreas
2006-01-01
Emotions can be viewed as action dispositions, preparing an individual to act efficiently and successfully in situations of behavioral relevance. To initiate optimized behavior, it is essential to accurately process the perceptual elements indicative of emotional relevance. The present chapter discusses effects of affective content on neural and behavioral parameters of perception, across different information channels. Electrocortical data are presented from studies examining affective perception with pictures and words in different task contexts. As a main result, these data suggest that sensory facilitation has an important role in affective processing. Affective pictures appear to facilitate perception as a function of emotional arousal at multiple levels of visual analysis. If the discrimination between affectively arousing vs. nonarousing content relies on fine-grained differences, amplification of the cortical representation may occur as early as 60-90 ms after stimulus onset. Affectively arousing information as conveyed via visual verbal channels was not subject to such very early enhancement. However, electrocortical indices of lexical access and/or activation of semantic networks showed that affectively arousing content may enhance the formation of semantic representations during word encoding. It can be concluded that affective arousal is associated with activation of widespread networks, which act to optimize sensory processing. On the basis of prioritized sensory analysis for affectively relevant stimuli, subsequent steps such as working memory, motor preparation, and action may be adjusted to meet the adaptive requirements of the situation perceived.
Familial risks of breast and prostate cancers: does the definition of the at risk period matter?
Brandt, Andreas; Bermejo, Justo Lorenzo; Sundquist, Jan; Hemminki, Kari
2010-03-01
'Being at familial risk' may have different connotations in studies on familial risk of cancer. The register-based definition of a family history considers individuals with an affected relative at familial risk independently of the family member's diagnostic time. Alternatively, the individuals are classified to be at familial risk only after the diagnosis date of their relative, relevant to clinical counselling and screening situations. The aim of this study was to compare familial breast and prostate cancer risks according to the two definitions. The nationwide Swedish Family-Cancer Database with information on cancers from 1958 to 2006 was used to calculate the hazard ratio of breast and prostate cancers according to family history using Cox regression. Family history was defined considering the number and type of affected relatives and the relative's diagnostic age, respectively. Individuals were considered at familial risk from their entry to the study or, alternatively, from the diagnostic time of the relative. Hazard ratios were equal whether individuals were considered at risk independent of the relative's diagnostic date or only after the relative's diagnostic date. These results indicate that studies on familial breast or prostate cancer risk which do not take the relative's diagnosis date into account are applicable to screening and clinical counselling situations. The estimates according to the register-based definition are based on larger numbers of patients, which may be crucial for analysis of small groups such as families of multiple cases. Copyright 2009 Elsevier Ltd. All rights reserved.
Executive Function and Adaptive Behavior in Muenke Syndrome.
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.
Jiao, S; Tiezzi, F; Huang, Y; Gray, K A; Maltecca, C
2016-02-01
Obtaining accurate individual feed intake records is the key first step in achieving genetic progress toward more efficient nutrient utilization in pigs. Feed intake records collected by electronic feeding systems contain errors (erroneous and abnormal values exceeding certain cutoff criteria), which are due to feeder malfunction or animal-feeder interaction. In this study, we examined the use of a novel data-editing strategy involving multiple imputation to minimize the impact of errors and missing values on the quality of feed intake data collected by an electronic feeding system. Accuracy of feed intake data adjustment obtained from the conventional linear mixed model (LMM) approach was compared with 2 alternative implementations of multiple imputation by chained equation, denoted as MI (multiple imputation) and MICE (multiple imputation by chained equation). The 3 methods were compared under 3 scenarios, where 5, 10, and 20% feed intake error rates were simulated. Each of the scenarios was replicated 5 times. Accuracy of the alternative error adjustment was measured as the correlation between the true daily feed intake (DFI; daily feed intake in the testing period) or true ADFI (the mean DFI across testing period) and the adjusted DFI or adjusted ADFI. In the editing process, error cutoff criteria are used to define if a feed intake visit contains errors. To investigate the possibility that the error cutoff criteria may affect any of the 3 methods, the simulation was repeated with 2 alternative error cutoff values. Multiple imputation methods outperformed the LMM approach in all scenarios with mean accuracies of 96.7, 93.5, and 90.2% obtained with MI and 96.8, 94.4, and 90.1% obtained with MICE compared with 91.0, 82.6, and 68.7% using LMM for DFI. Similar results were obtained for ADFI. Furthermore, multiple imputation methods consistently performed better than LMM regardless of the cutoff criteria applied to define errors. In conclusion, multiple imputation is proposed as a more accurate and flexible method for error adjustments in feed intake data collected by electronic feeders.
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.
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
Di Gregorio, Eleonora; Borroni, Barbara; Giorgio, Elisa; Lacerenza, Daniela; Ferrero, Marta; Lo Buono, Nicola; Ragusa, Neftj; Mancini, Cecilia; Gaussen, Marion; Calcia, Alessandro; Mitro, Nico; Hoxha, Eriola; Mura, Isabella; Coviello, Domenico A.; Moon, Young-Ah; Tesson, Christelle; Vaula, Giovanna; Couarch, Philippe; Orsi, Laura; Duregon, Eleonora; Papotti, Mauro Giulio; Deleuze, Jean-François; Imbert, Jean; Costanzi, Chiara; Padovani, Alessandro; Giunti, Paola; Maillet-Vioud, Marcel; Durr, Alexandra; Brice, Alexis; Tempia, Filippo; Funaro, Ada; Boccone, Loredana; Caruso, Donatella; Stevanin, Giovanni; Brusco, Alfredo
2014-01-01
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped SCA38 to a 56 Mb region on chromosome 6p in a SCA-affected Italian family by whole-genome linkage analysis. Targeted resequencing identified a single missense mutation (c.689G>T [p.Gly230Val]) in ELOVL5. Mutation screening of 456 independent SCA-affected individuals identified the same mutation in two further unrelated Italian families. Haplotyping showed that at least two of the three families shared a common ancestor. One further missense variant (c.214C>G [p.Leu72Val]) was found in a French family. Both missense changes affect conserved amino acids, are predicted to be damaging by multiple bioinformatics tools, and were not identified in ethnically matched controls or within variant databases. ELOVL5 encodes an elongase involved in the synthesis of polyunsaturated fatty acids of the ω3 and ω6 series. Arachidonic acid and docosahexaenoic acid, two final products of the enzyme, were reduced in the serum of affected individuals. Immunohistochemistry on control mice and human brain demonstrated high levels in Purkinje cells. In transfection experiments, subcellular localization of altered ELOVL5 showed a perinuclear distribution with a signal increase in the Golgi compartment, whereas the wild-type showed a widespread signal in the endoplasmic reticulum. SCA38 and SCA34 are examples of SCAs due to mutations in elongase-encoding genes, emphasizing the importance of fatty-acid metabolism in neurological diseases. PMID:25065913
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.
Conway, Kristin M; Ciafaloni, Emma; Matthews, Dennis; Westfield, Chris; James, Kathy; Paramsothy, Pangaja; Romitti, Paul A
2018-07-01
Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine functional health. The infrastructure of the Muscular Dystrophy Surveillance, Tracking, and Research Network was used to identify commonly affected body functions and link selected functions to clinical surveillance data collected through medical record abstraction. Seventy-one (24 second-, 41 third- and 7 fourth-level) body function categories were selected via clinician review and consensus. Of these, 15 of 24 retained second-level categories were linked to data elements from the Muscular Dystrophy Surveillance, Tracking, and Research Network surveillance database. Our findings support continued development of a core set of body functions from the International Classification of Functioning, Disability and Health system that are representative of disease progression in dystrophinopathies and the incorporation of these functions in standardized evaluations of functional health and implementation of individualized rehabilitation care plans. Implications for Rehabilitation Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive disorders that affect the production of dystrophin resulting in compromised muscle function across multiple systems. The severity and progressive nature of dystrophinopathies can have considerable impact on a patient's participation in activities across multiple life domains. Our findings support continued development of an International Classification of Functioning, Disability and Health core set for childhood-onset dystrophinopathies. A standardized dystrophinopathy International Classification of Functioning, Disability and Health documentation form can be used as a screening tool by rehabilitation professionals and for patient goal setting when developing rehabilitation plans. Patient reports of perceived functional health should be incorporated into the rehabilitation plan and therapeutic progress monitored by a standardized form.
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.
NASA Astrophysics Data System (ADS)
Pizo, Marco A.; Von Allmen, Christiane; Morellato, L. Patricia C.
2006-05-01
Intraspecific variation in seed size is common in wild plant populations and has important consequences for the reproductive success of individual plants. Multiple, often conflicting evolutionary forces mediated by biotic as well as abiotic agents may maintain such a variation. In this paper we assessed seed size variation in a population of the threatened, commercially important palm Euterpe edulis in southeast Brazil. We investigated (i) how this variation affects the probability of attack by vertebrate and invertebrate post-dispersal seed predators, and (ii) if seed size influences the outcome of seeds damaged by beetles in terms of seed germination and early survival of seedlings. Euterpe edulis seeds varied in diameter from 8.3 to 14.1 mm. Neither insects nor rodents selected the seeds they preyed upon based on seed size. Seed germination and total, shoot and root biomasses of one-year seedlings were significantly and positively affected by seed size. Root biomass and seedling survival were negatively affected by seed damage caused by a scolytid beetle ( Coccotrypes palmarum) whose adults bore into seeds to consume part of the endosperm, but do not oviposit on them. Seed size had a marginally significant effect on seedling survival. Therefore, if any advantage is accrued by E. edulis individuals producing large seeds, this is because of greater seed germination success and seedling vigor. If this is so, even a relatively narrow range of variation in seed size as observed in the E. edulis population studied may translate into differential success of individual plants.
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.
Cho, Jae Hoon; Suh, Jeffrey D; Kim, Jin Kook; Hong, Seok-Chan; Park, Il-Ho; Lee, Heung-Man
2014-01-01
Allergy test results can differ based on the method used. The most common tests include skin-prick testing (SPT) and in vitro tests to detect allergen-specific IgE. This study was designed to assess allergy test results using SPT, individual specific IgE tests, and a multiallergen IgE assay (multiple allergen simultaneous test) in patients with chronic rhinitis and controls. One hundred forty total patients were prospectively enrolled in the study, including 100 patients with chronic rhinitis and 40 control patients without atopy. All eligible patients underwent SPT, serum analysis using individual specific IgE test, and multiple allergen simultaneous test against 10 common allergens. Allergy test results were then compared to identify correlation and interest agreement. There was an 81-97% agreement between SPT and individual specific IgE test in allergen detection and an 80-98% agreement between SPT and multiple allergen simultaneous test. Individual specific IgE test and multiple allergen simultaneous test allergy detection prevalence was generally similar to SPT in patients with chronic rhinitis. All control patients had negative SPT (0/40), but low positive results were found with both individual specific IgE test (5-12.5%) and multiple allergen simultaneous test (2.5-7.5%) to some allergens, especially cockroach, Dermatophagoides farina, and ragweed. Agreement and correlation between individual specific IgE test and multiple allergen simultaneous test were good to excellent for a majority of tested allergens. This study shows good agreement and correlation between SPT with individual specific IgE test and multiple allergen simultaneous test on a majority of the tested allergens for patients with chronic rhinitis. Comparing the two in vitro tests, individual specific IgE test agrees with SPT better than multiple allergen simultaneous test.
Cooper, Jason D.; Tomasik, Jakub; Bahn, Sabine; Aerts, Joeri L.; Osterhaus, Albert D. M. E.; Gruters, Rob A.; Andeweg, Arno C.
2018-01-01
Objectives To characterize the host response to dendritic cell-based immunotherapy and subsequent combined antiretroviral therapy (cART) interruption in HIV-1-infected individuals at the plasma protein level. Design An autologous dendritic cell (DC) therapeutic vaccine was administered to HIV-infected individuals, stable on cART. The effect of vaccination was evaluated at the plasma protein level during the period preceding cART interruption, during analytical therapy interruption and at viral reactivation. Healthy controls and post-exposure prophylactically treated healthy individuals were included as controls. Methods Plasma marker (‘analyte’) levels including cytokines, chemokines, growth factors, and hormones were measured in trial participants and control plasma samples using a multiplex immunoassay. Analyte levels were analysed using principle component analysis, cluster analysis and limma. Blood neutrophil counts were analysed using linear regression. Results Plasma analyte levels of HIV-infected individuals are markedly different from those of healthy controls and HIV-negative individuals receiving post-exposure prophylaxis. Viral reactivation following cART interruption also affects multiple analytes, but cART interruption itself only has only a minor effect. We find that Thyroxine-Binding Globulin (TBG) levels and late-stage neutrophil numbers correlate with the time off cART after DC vaccination. Furthermore, analysis shows that cART alters several regulators of blood glucose levels, including C-peptide, chromogranin-A and leptin. HIV reactivation is associated with the upregulation of CXCR3 ligands. Conclusions Chronic HIV infection leads to a change in multiple plasma analyte levels, as does virus reactivation after cART interruption. Furthermore, we find evidence for the involvement of TBG and neutrophils in the response to DC-vaccination in the setting of HIV-infection. PMID:29389978
van den Ham, Henk-Jan; Cooper, Jason D; Tomasik, Jakub; Bahn, Sabine; Aerts, Joeri L; Osterhaus, Albert D M E; Gruters, Rob A; Andeweg, Arno C
2018-01-01
To characterize the host response to dendritic cell-based immunotherapy and subsequent combined antiretroviral therapy (cART) interruption in HIV-1-infected individuals at the plasma protein level. An autologous dendritic cell (DC) therapeutic vaccine was administered to HIV-infected individuals, stable on cART. The effect of vaccination was evaluated at the plasma protein level during the period preceding cART interruption, during analytical therapy interruption and at viral reactivation. Healthy controls and post-exposure prophylactically treated healthy individuals were included as controls. Plasma marker ('analyte') levels including cytokines, chemokines, growth factors, and hormones were measured in trial participants and control plasma samples using a multiplex immunoassay. Analyte levels were analysed using principle component analysis, cluster analysis and limma. Blood neutrophil counts were analysed using linear regression. Plasma analyte levels of HIV-infected individuals are markedly different from those of healthy controls and HIV-negative individuals receiving post-exposure prophylaxis. Viral reactivation following cART interruption also affects multiple analytes, but cART interruption itself only has only a minor effect. We find that Thyroxine-Binding Globulin (TBG) levels and late-stage neutrophil numbers correlate with the time off cART after DC vaccination. Furthermore, analysis shows that cART alters several regulators of blood glucose levels, including C-peptide, chromogranin-A and leptin. HIV reactivation is associated with the upregulation of CXCR3 ligands. Chronic HIV infection leads to a change in multiple plasma analyte levels, as does virus reactivation after cART interruption. Furthermore, we find evidence for the involvement of TBG and neutrophils in the response to DC-vaccination in the setting of HIV-infection.
Delle Fave, Antonella; Bassi, Marta; Allegri, Beatrice; Cilia, Sabina; Falautano, Monica; Goretti, Benedetta; Grobberio, Monica; Minacapelli, Eleonora; Pattini, Marianna; Pietrolongo, Erika; Valsecchi, Manuela; Amato, Maria Pia; Lugaresi, Alessandra; Patti, Francesco
2017-01-01
The experience of persons with multiple sclerosis (MS) and their caregivers is usually investigated in terms of emotional distress and health-related quality of life, while well-being indicators remain largely underexplored. In addition, findings are often interpreted from the clinical perspective, neglecting socio-cultural aspects that may crucially contribute to individuals' functioning. At the methodological level, most studies rely on scaled instruments, not allowing participants to freely express their needs and resources. Based on the bio-psycho-social perspective endorsed by the International Classification of Functioning, well-being indicators were investigated among 62 persons with MS (PwMS), their 62 caregivers and two control groups, matched by age and gender. Participants completed the Positive Affect Negative Affect Schedule (PANAS), the Satisfaction with Life Scale (SWLS), and the Eudaimonic and Hedonic Happiness Investigation instrument (EHHI). EHHI provides information on participants' happiness, goals and meanings through scaled and open-ended questions, contextualized within major life domains. No relevant differences emerged among PwMS and caregivers, compared with the respective control groups, as concerns life domains associated with happiness, goals and meaning. Participants across groups prominently mentioned family, highlighting its intrinsic value and its relevance as a sharing context; health did not represent a major theme for PwMS; community, society and religion/spirituality issues were substantially neglected by all participants. PwMS and caregivers reported lower levels of positive affect than their control groups, while no substantial differences emerged for negative affect, happiness and meaningfulness levels in life and across most domains. Results suggest that the experience of MS is associated with well-being in relevant life domains, such as family and close relationships. Although PwMS and caregivers identified a lower number of goals and meaning-related opportunities compared to control groups, they showed a positive adjustment to disease through the development of personal and family resources. These assets are often undervalued by health professionals and social institutions, while they could be fruitfully exploited through the active involvement of PwMS and their families as expert and exemplary informants in initiatives aimed at promoting the well-being of individuals and communities.
Delle Fave, Antonella; Bassi, Marta; Allegri, Beatrice; Cilia, Sabina; Falautano, Monica; Goretti, Benedetta; Grobberio, Monica; Minacapelli, Eleonora; Pattini, Marianna; Pietrolongo, Erika; Valsecchi, Manuela; Amato, Maria Pia; Lugaresi, Alessandra; Patti, Francesco
2017-01-01
The experience of persons with multiple sclerosis (MS) and their caregivers is usually investigated in terms of emotional distress and health-related quality of life, while well-being indicators remain largely underexplored. In addition, findings are often interpreted from the clinical perspective, neglecting socio-cultural aspects that may crucially contribute to individuals' functioning. At the methodological level, most studies rely on scaled instruments, not allowing participants to freely express their needs and resources. Based on the bio-psycho-social perspective endorsed by the International Classification of Functioning, well-being indicators were investigated among 62 persons with MS (PwMS), their 62 caregivers and two control groups, matched by age and gender. Participants completed the Positive Affect Negative Affect Schedule (PANAS), the Satisfaction with Life Scale (SWLS), and the Eudaimonic and Hedonic Happiness Investigation instrument (EHHI). EHHI provides information on participants' happiness, goals and meanings through scaled and open-ended questions, contextualized within major life domains. No relevant differences emerged among PwMS and caregivers, compared with the respective control groups, as concerns life domains associated with happiness, goals and meaning. Participants across groups prominently mentioned family, highlighting its intrinsic value and its relevance as a sharing context; health did not represent a major theme for PwMS; community, society and religion/spirituality issues were substantially neglected by all participants. PwMS and caregivers reported lower levels of positive affect than their control groups, while no substantial differences emerged for negative affect, happiness and meaningfulness levels in life and across most domains. Results suggest that the experience of MS is associated with well-being in relevant life domains, such as family and close relationships. Although PwMS and caregivers identified a lower number of goals and meaning-related opportunities compared to control groups, they showed a positive adjustment to disease through the development of personal and family resources. These assets are often undervalued by health professionals and social institutions, while they could be fruitfully exploited through the active involvement of PwMS and their families as expert and exemplary informants in initiatives aimed at promoting the well-being of individuals and communities PMID:29326635
Time-Ordered Networks Reveal Limitations to Information Flow in Ant Colonies
Blonder, Benjamin; Dornhaus, Anna
2011-01-01
Background An important function of many complex networks is to inhibit or promote the transmission of disease, resources, or information between individuals. However, little is known about how the temporal dynamics of individual-level interactions affect these networks and constrain their function. Ant colonies are a model comparative system for understanding general principles linking individual-level interactions to network-level functions because interactions among individuals enable integration of multiple sources of information to collectively make decisions, and allocate tasks and resources. Methodology/Findings Here we show how the temporal and spatial dynamics of such individual interactions provide upper bounds to rates of colony-level information flow in the ant Temnothorax rugatulus. We develop a general framework for analyzing dynamic networks and a mathematical model that predicts how information flow scales with individual mobility and group size. Conclusions/Significance Using thousands of time-stamped interactions between uniquely marked ants in four colonies of a range of sizes, we demonstrate that observed maximum rates of information flow are always slower than predicted, and are constrained by regulation of individual mobility and contact rate. By accounting for the ordering and timing of interactions, we can resolve important difficulties with network sampling frequency and duration, enabling a broader understanding of interaction network functioning across systems and scales. PMID:21625450
Bowdin, S C; Hayeems, R Z; Monfared, N; Cohn, R D; Meyn, M S
2016-01-01
Our increasing knowledge of how genomic variants affect human health and the falling costs of whole-genome sequencing are driving the development of individualized genomic medicine. This new clinical paradigm uses knowledge of an individual's genomic variants to anticipate, diagnose and manage disease. While individualized genetic medicine offers the promise of transformative change in health care, it forces us to reconsider existing ethical, scientific and clinical paradigms. The potential benefits of pre-symptomatic identification of at-risk individuals, improved diagnostics, individualized therapy, accurate prognosis and avoidance of adverse drug reactions coexist with the potential risks of uninterpretable results, psychological harm, outmoded counseling models and increased health care costs. Here we review the challenges, opportunities and limits of integrating genomic analysis into pediatric clinical practice and describe a model for implementing individualized genomic medicine. Our multidisciplinary team of bioinformaticians, health economists, health services and policy researchers, ethicists, geneticists, genetic counselors and clinicians has designed a 'Genome Clinic' research project that addresses multiple challenges in pediatric genomic medicine--ranging from development of bioinformatics tools for the clinical assessment of genomic variants and the discovery of disease genes to health policy inquiries, assessment of clinical care models, patient preference and the ethics of consent. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Streicher, Sonja; Boyles, Justin G.; Oosthuizen, Maria K.; Bennett, Nigel C.
2011-01-01
Body temperature (Tb) is an important physiological component that affects endotherms from the cellular to whole organism level, but measurements of Tb in the field have been noticeably skewed towards heterothermic species and seasonal comparisons are largely lacking. Thus, we investigated patterns of Tb patterns in a homeothermic, free-ranging small mammal, the Damaraland mole-rat (Fukomys damarensis) during both the summer and winter. Variation in Tb was significantly greater during winter than summer, and greater among males than females. Interestingly, body mass had only a small effect on variation in Tb and there was no consistent pattern relating ambient temperature to variation in Tb. Generally speaking, it appears that variation in Tb patterns varies between seasons in much the same way as in heterothermic species, just to a lesser degree. Both cosinor analysis and Fast Fourier Transform analysis revealed substantial individual variation in Tb rhythms, even within a single colony. Some individuals had no Tb rhythms, while others appeared to exhibit multiple rhythms. These data corroborate previous laboratory work showing multiplicity of rhythms in mole-rats and suggest the variation seen in the laboratory is a true indicator of the variation seen in the wild. PMID:22028861
Williams, Bronwyn W; Scribner, Kim T
2010-01-01
Reintroductions and translocations are increasingly used to repatriate or increase probabilities of persistence for animal and plant species. Genetic and demographic characteristics of founding individuals and suitability of habitat at release sites are commonly believed to affect the success of these conservation programs. Genetic divergence among multiple source populations of American martens (Martes americana) and well documented introduction histories permitted analyses of post-introduction dispersion from release sites and development of genetic clusters in the Upper Peninsula (UP) of Michigan <50 years following release. Location and size of spatial genetic clusters and measures of individual-based autocorrelation were inferred using 11 microsatellite loci. We identified three genetic clusters in geographic proximity to original release locations. Estimated distances of effective gene flow based on spatial autocorrelation varied greatly among genetic clusters (30-90 km). Spatial contiguity of genetic clusters has been largely maintained with evidence for admixture primarily in localized regions, suggesting recent contact or locally retarded rates of gene flow. Data provide guidance for future studies of the effects of permeabilities of different land-cover and land-use features to dispersal and of other biotic and environmental factors that may contribute to the colonization process and development of spatial genetic associations.
Eigenhuis, Annemarie; Kamphuis, Jan H; Noordhof, Arjen
2017-09-01
A growing body of research suggests that the same general dimensions can describe normal and pathological personality, but most of the supporting evidence is exploratory. We aim to determine in a confirmatory framework the extent to which responses on the Multidimensional Personality Questionnaire (MPQ) are identical across general and clinical samples. We tested the Dutch brief form of the MPQ (MPQ-BF-NL) for measurement invariance across a general population subsample (N = 365) and a clinical sample (N = 365), using Multiple Group Confirmatory Factor Analysis (MGCFA) and Multiple Group Exploratory Structural Equation Modeling (MGESEM). As an omnibus personality test, the MPQ-BF-NL revealed strict invariance, indicating absence of bias. Unidimensional per scale tests for measurement invariance revealed that 10% of items appeared to contain bias across samples. Item bias only affected the scale interpretation of Achievement, with individuals from the clinical sample more readily admitting to put high demands on themselves than individuals from the general sample, regardless of trait level. This formal test of equivalence provides strong evidence for the common structure of normal and pathological personality and lends further support to the clinical utility of the MPQ. (PsycINFO Database Record (c) 2017 APA, all rights reserved).
2012-01-01
We propose a tripartite biochemical mechanism for memory. Three physiologic components are involved, namely, the neuron (individual and circuit), the surrounding neural extracellular matrix, and the various trace metals distributed within the matrix. The binding of a metal cation affects a corresponding nanostructure (shrinking, twisting, expansion) and dielectric sensibility of the chelating node (address) within the matrix lattice, sensed by the neuron. The neural extracellular matrix serves as an electro-elastic lattice, wherein neurons manipulate multiple trace metals (n > 10) to encode, store, and decode coginive information. The proposed mechanism explains brains low energy requirements and high rates of storage capacity described in multiples of Avogadro number (NA = 6 × 1023). Supportive evidence correlates memory loss to trace metal toxicity or deficiency, or breakdown in the delivery/transport of metals to the matrix, or its degradation. Inherited diseases revolving around dysfunctional trace metal metabolism and memory dysfunction, include Alzheimer's disease (Al, Zn, Fe), Wilson’s disease (Cu), thalassemia (Fe), and autism (metallothionein). The tripartite mechanism points to the electro-elastic interactions of neurons with trace metals distributed within the neural extracellular matrix, as the molecular underpinning of “synaptic plasticity” affecting short-term memory, long-term memory, and forgetting. PMID:23050060
Associations among perceptual anomalies, social anxiety, and paranoia in a college student sample.
Tone, Erin B; Goulding, Sandra M; Compton, Michael T
2011-07-30
Recent evidence suggests that normal-range paranoid ideation may be particularly likely to develop in individuals disposed to both social anxiety and perceptual anomalies. This study was designed to test the hypothesis that among college students in an unselected sample, social anxiety and experience of perceptual anomalies would not only each independently predict the experience of self-reported paranoid ideation, but would also interact to predict paranoid patterns of thought. A diverse sample of 644 students completed a large battery of self-report measures, as well as the five-factor Paranoia/Suspiciousness Questionnaire (PSQ). We conducted hierarchical multiple regression analyses predicting scores on each PSQ factor from responses on measures of social anxiety, perceptual aberration, and the interaction between the two constructs. Current general negative affect was covaried in all analyses. We found that both social anxiety and perceptual aberrations, along with negative affect, predicted multiple dimensions of paranoia as measured by the PSQ; the two constructs did not, however, interact significantly to predict any dimensions. Our findings suggest that perceptual aberration and anxiety may contribute to normal-range paranoid ideation in an additive rather than an interactive manner. Copyright © 2011 Elsevier Ltd. All rights reserved.
[Cormorbidity in multiple sclerosis and its therapeutic approach].
Estruch, Bonaventura Casanova
2014-12-01
Multiple sclerosis (MS) is a long-term chronic disease, in which intercurrent processes develop three times more frequently in affected individuals than in persons without MS. Knowledge of the comorbidity of MS, its definition and measurement (Charlson index) improves patient management. Acting on comorbid conditions delays the progression of disability, which is intimately linked to the number of concurrent processes and with health states and habits. Moreover, the presence of comorbidities delays the diagnosis of MS, which in turn delays the start of treatment. The main comorbidity found in MS includes other autoimmune diseases (thyroiditis, systemic lupus erythematosus, or pemphigus) but can also include general diseases, such as asthma or osteomuscular alterations, and, in particular, psychiatric disturbances. All these alterations should be evaluated with multidimensional scales (Disability Expectancy Table, DET), which allow more accurate determination of the patient's real clinical course and quality of life. These scales also allow identification of how MS, concurrent and intercurrent processes occurring during the clinical course, and the treatment provided affect patients with MS. An overall approach to patients' health status helps to improve quality of life. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.
Pseudobulbar affect: prevalence and management
Ahmed, Aiesha; Simmons, Zachary
2013-01-01
Pseudobulbar affect (PBA) may occur in association with a variety of neurological diseases, and so may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders, multiple sclerosis, traumatic brain injury, Alzheimer’s disease, stroke, and brain tumors. The psychological consequences and the impact on social interactions may be substantial. Although it is most commonly misidentified as a mood disorder, particularly depression or a bipolar disorder, there are characteristic features that can be recognized clinically or assessed by validated scales, resulting in accurate identification of PBA, and thus permitting proper management and treatment. Mechanistically, PBA is a disinhibition syndrome in which pathways involving serotonin and glutamate are disrupted. This knowledge has permitted effective treatment for many years with antidepressants, particularly tricyclic antidepressants and selective serotonin reuptake inhibitors. A recent therapeutic breakthrough occurred with the approval by the Food and Drug Administration of a dextromethorphan/quinidine combination as being safe and effective for treatment of PBA. Side effect profiles and contraindications differ for the various treatment options, and the clinician must be familiar with these when choosing the best therapy for an individual, particularly elderly patients and those with multiple comorbidities and concomitant medications. PMID:24348042
Pseudobulbar affect: prevalence and management.
Ahmed, Aiesha; Simmons, Zachary
2013-01-01
Pseudobulbar affect (PBA) may occur in association with a variety of neurological diseases, and so may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders, multiple sclerosis, traumatic brain injury, Alzheimer's disease, stroke, and brain tumors. The psychological consequences and the impact on social interactions may be substantial. Although it is most commonly misidentified as a mood disorder, particularly depression or a bipolar disorder, there are characteristic features that can be recognized clinically or assessed by validated scales, resulting in accurate identification of PBA, and thus permitting proper management and treatment. Mechanistically, PBA is a disinhibition syndrome in which pathways involving serotonin and glutamate are disrupted. This knowledge has permitted effective treatment for many years with antidepressants, particularly tricyclic antidepressants and selective serotonin reuptake inhibitors. A recent therapeutic breakthrough occurred with the approval by the Food and Drug Administration of a dextromethorphan/quinidine combination as being safe and effective for treatment of PBA. Side effect profiles and contraindications differ for the various treatment options, and the clinician must be familiar with these when choosing the best therapy for an individual, particularly elderly patients and those with multiple comorbidities and concomitant medications.
Affective changes during the postpartum period: Influences of genetic and experiential factors.
Agrati, Daniella; Lonstein, Joseph S
2016-01-01
This article is part of a Special Issue "Parental Care". The postpartum period involves some truly transformational changes in females' socioemotional behaviors. For most female laboratory rodents and women, these changes include an improvement in their affective state, which has positive consequences for their ability to sensitively care for their offspring. There is heterogeneity among females in the likelihood of this positive affective change, though, and some women experience elevated anxiety or depression (or in rodents anxiety- or depression-related behaviors) after giving birth. We aim to contribute to the understanding of this heterogeneity in maternal affectivity by reviewing selected components of the scientific literatures on laboratory rodents and humans examining how mothers' physical contact with her infants, genetics, history of anxiety and depression and early-life and recent-life experiences contribute to individual differences in postpartum affective states. These studies together indicate that multiple biological and environmental factors beyond female maternal state shape affective responses during the postpartum period, and probably do so in an interactive manner. Furthermore, the similar capacity of some of these factors to modulate anxiety and depression in human and rodent mothers suggests cross-species conservation of mechanisms regulating postpartum affectivity. Copyright © 2015 Elsevier Inc. All rights reserved.
The influence of habitat fragmentation on multiple plant-animal interactions and plant reproduction.
Brudvig, Lars A; Damschen, Ellen I; Haddad, Nick M; Levey, Douglas J; Tewksbury, Joshua J
2015-10-01
Despite broad recognition that habitat loss represents the greatest threat to the world's biodiyersity, a mechanistic understanding of how habitat loss and associated fragmentation affect ecological systems has proven remarkably challenging. The challenge stems from the multiple interdependent ways that landscapes change following fragmentation and the ensuing complex impacts on populations and communities of interacting species. We confronted these challenges by evaluating how fragmentation affects individual plants through interactions with animals, across five herbaceous species native to longleaf pine savannas. We created a replicated landscape experiment that provides controlled tests of three major fragmentation effects (patch isolation, patch shape [i.e., edge-to-area ratio], and distance to edge), established experimental founder populations of the five species to control for spatial distributions and densities of individual plants, and employed structural equation modeling to evaluate the effects of fragmentation on plant reproductive output and the degree to which these impacts are mediated through altered herbivory, pollination, or pre-dispersal seed predation. Across species, the most consistent response to fragmentation was a reduction in herbivory. Herbivory, however, had little impact.on plant reproductive output, and thus we found little evidence for any resulting benefit to plants in fragments. In contrast, fragmentation rarely impacted pollination or pre-dispersal seed predation, but both of these interactions had strong and consistent impacts on plant reproductive output. As a result, our models robustly predicted plant reproductive output (r2 = 0.52-0.70), yet due to the weak effects of fragmentation on pollination and pre-dispersal seed predation, coupled with the weak effect of herbivory on plant reproduction, the effects of fragmentation on reproductive output were generally small in magnitude and inconsistent. This work provides mechanistic insight into landscape-scale variation in plant reproductive success, the relative importance of plant-animal interactions for structuring these dynamics, and the nuanced nature of how habitat fragmentation can affect populations and communities of interacting species.
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.
Onodera, Shoko; Saito, Akiko; Hasegawa, Daigo; Morita, Nana; Watanabe, Katsuhito; Nomura, Takeshi; Shibahara, Takahiko; Ohba, Shinsuke; Yamaguchi, Akira; Azuma, Toshifumi
2017-01-01
Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype-phenotype correlations have been reported. Recently, mutations in Suppressor of fused homolog (SUFU) or PTCH2 were reported in patients with Gorlin syndrome. These facts suggest that multi-layered mutations in Hh pathway may contribute to the development of Gorlin syndrome. We demonstrated multiple mutations of Hh-related genes in addition to PTCH1, which possibly act in an additive or multiplicative manner and lead to Gorlin syndrome. High-throughput sequencing was performed to analyze exome sequences in four unrelated Gorlin syndrome patient genomes. Mutations in PTCH1 gene were detected in all four patients. Specific nucleotide variations or frameshift variations of PTCH1 were identified along with the inferred amino acid changes in all patients. We further filtered 84 different genes which are closely related to Hh signaling. Fifty three of these had enough coverage of over ×30. The sequencing results were filtered and compared to reduce the number of sequence variants identified in each of the affected individuals. We discovered three genes, PTCH2, BOC, and WNT9b, with mutations with a predicted functional impact assessed by MutationTaster2 or PolyPhen-2 (Polymorphism Phenotyping v2) analysis. It is noticeable that PTCH2 and BOC are Hh receptor molecules. No significant mutations were observed in SUFU. Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.
Galic, Nika; Sullivan, Lauren L; Grimm, Volker; Forbes, Valery E
2018-04-01
Ecosystems are exposed to multiple stressors which can compromise functioning and service delivery. These stressors often co-occur and interact in different ways which are not yet fully understood. Here, we applied a population model representing a freshwater amphipod feeding on leaf litter in forested streams. We simulated impacts of hypothetical stressors, individually and in pairwise combinations that target the individuals' feeding, maintenance, growth and reproduction. Impacts were quantified by examining responses at three levels of biological organisation: individual-level body sizes and cumulative reproduction, population-level abundance and biomass and ecosystem-level leaf litter decomposition. Interactive effects of multiple stressors at the individual level were mostly antagonistic, that is, less negative than expected. Most population- and ecosystem-level responses to multiple stressors were stronger than expected from an additive model, that is, synergistic. Our results suggest that across levels of biological organisation responses to multiple stressors are rarely only additive. We suggest methods for efficiently quantifying impacts of multiple stressors at different levels of biological organisation. © 2018 John Wiley & Sons Ltd/CNRS.
Pattern of maxillofacial fractures in severe multiple trauma patients: a 7-year prospective study.
Alves, La-Salete; Aragão, Irene; Sousa, Maria-José Carneiro; Gomes, Ernestina
2014-01-01
The incidence of facial trauma is high. This study has the primary objective of documenting and cataloging maxillofacial fractures in polytrauma patients. From a total of 1229 multiple trauma cases treated at the Emergency Room of the Santo Antonio Hospital - Oporto Hospital Center, Portugal, between August 2001 and December 2007, 251 patients had facial wounds and 209 had maxillofacial fractures. Aged ranged form 13 to 86 years. The applied selective method was based on the presence of facial wound with Abbreviated Injury Scale ≥1. Men had a higher incidence of maxillofacial fractures among multiple trauma patients (86.6%) and road traffic accidents were the primary cause of injuries (69.38%). Nasoorbitoethmoid complex was the most affected region (67.46%) followed by the maxilla (57.42%). The pattern and presentation of maxillofacial fractures had been studied in many parts of the world with varying results. Severe multiple trauma patients had different patterns of maxillofacial injuries. The number of maxillofacial trauma is on the rise worldwide as well as the incidence of associated sequelae. Maxillofacial fractures on multiple trauma patients were more frequent among males and in road traffic crashes. Knowing such data is elementary. The society should have a key role in the awareness of individuals and in prevention of road traffic accidents.
Bryan, Craig J.
2013-01-01
Study Objectives: Considerable research indicates that sleep disturbances and insomnia are more common and severe among individuals following a traumatic brain injury (TBI). It remains unclear, however, how the experience of multiple TBIs affect sleep disturbances and insomnia. The current study investigated the incidence and severity of insomnia and sleep complaints among active-duty military personnel who have sustained multiple TBIs. Design and Setting: Upon intake at a military TBI clinic located in Iraq, 150 male military patients completed standardized self-report measures and clinical interviews. Measurements and Results: Patients were categorized into three groups according to history of TBI: zero TBIs (n = 18), single TBI (n = 54), multiple TBIs (n = 78). Rates of clinical insomnia significantly increased across TBI groups (P < 0.001):- 5.6% for no TBIs, 20.4% for single TBI, and 50.0% for multiple TBIs. Insomnia severity significantly increased across TBI groups even when controlling for depression, posttraumatic stress disorder, and concussion symptom severity (B = 1.134, standard error = 0.577, P = 0.049). Conclusions: Multiple TBIs are associated with increased risk for and severity of sleep disturbance among male military personnel. Citation: Bryan CJ. Repetitive traumatic brain injury (or concussion) increases severity of sleep disturbance among deployed military personnel. SLEEP 2013;36(6):941-946. PMID:23729938
Grazing effects on ecosystem CO2 fluxes differ among temperate steppe types in Eurasia.
Hou, Longyu; Liu, Yan; Du, Jiancai; Wang, Mingya; Wang, Hui; Mao, Peisheng
2016-07-01
Grassland ecosystems play a critical role in regulating CO2 fluxes into and out of the Earth's surface. Whereas previous studies have often addressed single fluxes of CO2 separately, few have addressed the relation among and controls of multiple CO2 sub-fluxes simultaneously. In this study, we examined the relation among and controls of individual CO2 fluxes (i.e., GEP, NEP, SR, ER, CR) in three contrasting temperate steppes of north China, as affected by livestock grazing. Our findings show that climatic controls of the seasonal patterns in CO2 fluxes were both individual flux- and steppe type-specific, with significant grazing impacts observed for canopy respiration only. In contrast, climatic controls of the annual patterns were only individual flux-specific, with minor grazing impacts on the individual fluxes. Grazing significantly reduced the mean annual soil respiration rate in the typical and desert steppes, but significantly enhanced both soil and canopy respiration in the meadow steppe. Our study suggests that a reassessment of the role of livestock grazing in regulating GHG exchanges is imperative in future studies.
Tanner, Amanda E; Reboussin, Beth A; Mann, Lilli; Ma, Alice; Song, Eunyoung; Alonzo, Jorge; Rhodes, Scott D
2014-11-01
Little is known about immigrant Latino sexual minorities’ health seeking behaviors. This study examined factors associated with perceptions of access and actual care behaviors among this population in North Carolina. A community-based participatory research partnership recruited 180 Latino sexual minority men and transgender individuals within preexisting social networks to participate in a sexual health intervention. Mixed-effects logistic regression models and GIS mapping examined factors influencing health care access perceptions and use of services (HIV testing and routine check-ups). Results indicate that perceptions of access and actual care behaviors are low and affected by individual and structural factors, including: years living in NC, reported poor general health, perceptions of discrimination, micro-, meso-, and macro-level barriers, and residence in a Medically Underserved Area. To improve Latino sexual minority health, focus must be placed on multiple levels, including: individual characteristics (e.g., demographics), clinic factors (e.g., provider competence and clinic environment), and structural factors (e.g., discrimination).
Tanner, AE; Reboussin, BA; Mann, L; Ma, A; Song, E; Alonzo, J; Rhodes, SD
2014-01-01
Little is known about immigrant Latino sexual minorities' health seeking behaviors. This study examined factors associated with perceptions of access and actual care behaviors among this population in North Carolina. Methods A community-based participatory research partnership recruited 180 Latino sexual minority men and transgender individuals within preexisting social networks to participate in a sexual health intervention. Mixed-effects logistic regression models examined factors influencing health care access perceptions and use of services (HIV testing and routine check-ups). Results Results indicate that perceptions of access and actual care behaviors are low and affected by individual and structural factors, including: years living in NC, reported poor general health, perceptions of discrimination, micro-, meso-, and macro-level barriers, and residence in a Medically Underserved Area. Discussion To improve Latino sexual minority health, focus must be placed on multiple levels, individual characteristics (e.g., demographics), clinic factors (e.g., provider competence and clinic environment), and structural factors (e.g., discrimination). PMID:25418235
Co-infections of haemosporidian and trypanosome parasites in a North American songbird.
Soares, Letícia; Ellis, Vincenzo A; Ricklefs, Robert E
2016-12-01
Hosts frequently harbour multiple parasite infections, yet patterns of parasite co-occurrence are poorly documented in nature. In this study, we asked whether two common avian blood parasites, one haemosporidian and one trypanosome, affect each other's occurrence in individuals of a single host species. We used molecular genotyping to survey protozoan parasites in the peripheral blood of yellow-breasted chats (Aves: Passeriformes [Parulidae]: Icteria virens) from the Ozarks of Southern Missouri. We also determined whether single and co-infections differently influence white blood cell and polychromatic erythrocyte counts, the latter being a measure of regenerative anaemia. We found a positive association between the haemosporidian and trypanosome parasites, such that infection by one increases the probability that an individual host is infected by the other. Adult individuals were more likely than juveniles to exhibit haemosporidian infection, but co-infections and single trypanosome infections were not age-related. We found evidence of pathogenicity of trypanosomes in that infected individuals exhibited similar levels of regenerative anaemia as birds infected with haemosporidian parasites of the genus Plasmodium. Counts of white blood cells did not differ with respect to infection status.
Challe, Joyce F X; Price, Lisa Leimar
2009-12-18
Tanzania is a wild orchid biodiversity hotspot and has a high prevalence of HIV/AIDS. The wild orchids in the study are endemic and protected by the Convention on International Trade in Endangered Species. Every year, however, between 2.2 and 4.1 million orchid plants consumed in Zambia are estimated as originating from Tanzania. This research examines the differences between HIV/AIDS wild edible orchid gatherers and non-HIV/AIDS gatherers with regards to the frequency of gathering, salience in naming the various orchids, gathering knowledge acquisition and perceptions regarding the current state of abundance of the edible species. Data was collected through interviews with 224 individuals in the Makete District of Tanzania close to the boarder of Zambia. Free-listings were conducted and Sutrup's Cultural Significance Index (CSI) constructed. The independent t-test was used to compare the differences in gathering frequencies between affected and non-affected gatherers. A multiple comparison of the 4 subgroups (affected adults and children, and non-affected adults and children) in gathering frequencies was done with a one way ANOVA test and its post hoc test. To examine the difference between affected and non-affected gatherers difference in source of gathering knowledge, a chi square test was run. Forty two vernacular names of gathered orchid species were mentioned corresponding to 7 botanical species belongs to genera Disa, Satyrium, Habenaria, Eulophia and Roeperocharis. Ninety-seven percent of HIV/AIDS affected households state that orchid gathering is their primary economic activity compared to non-HIV/AIDS affected households at 9.7 percent. The HIV/AIDS affected gathered significantly more often than the non-affected. AIDS orphans, however, gathered most frequently. Gatherers perceive a decreasing trend of abundance of 6 of the 7 species. Gathering activities were mainly performed in age based peer groups. The results revealed a significant difference between affected and non-affected individuals in terms of their source of gathering knowledge. HIV/AIDS is related to increased reliance on the natural environment. This appears even more so for the most vulnerable, the AIDS orphaned children followed by HIV/AIDS widows.
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.
Rupp, Kalman
2012-01-01
Various factors outside the control of decision makers may affect the rate at which disability applications are allowed or denied during the initial step of eligibility determination in the Social Security Disability Insurance (DI) and Supplemental Security Income (SSI) programs. In this article, using individual-level data on applications, I estimate the role of three important factors--the demographic characteristics of applicants, the diagnostic mix of applicants, and the local unemployment rate--in affecting the probability of an initial allowance and state allowance rates. I use a random sample of initial determinations from 1993 through 2008 and a fixed-effects multiple regression framework. The empirical results show that the demographic and diagnostic characteristics of applicants and the local unemployment rate substantially affect the initial allowance rate. An increase in the local unemployment rate tends to be associated with a decrease in the initial allowance rate. This negative relationship holds for adult DI and SSI applicants and for SSI childhood applicants.
Daily Mood Patterns and Bulimic Behaviors in the Natural Environment
Crosby, Ross D.; Wonderlich, Stephen A.; Engel, Scott G.; Simonich, Heather; Smyth, Joshua; Mitchell, James E.
2009-01-01
Objective Negative affect has been purported to play an important role in the etiology and maintenance of bulimic behaviors. The objective of this study was to identify daily mood patterns in the natural environment exhibited by individuals with bulimia nervosa and to examine the relationship between these patterns and bulimic behaviors. Method One hundred thirty-three women aged 18–55 meeting DSM-IV criteria for bulimia nervosa were recruited through clinical referrals and community advertisements. Ecological momentary assessment was used to collect multiple ratings of negative affect, binge eating and purging each day for a two-week period using palmtop computers. Latent growth mixture modeling was used to identify daily mood patterns. Results Nine distinct daily mood patterns were identified. The highest rates of binge eating and purging episodes occurred on days characterized by stable high negative affect or increasing negative affect over the course of the day. Conclusions These findings support the conclusion that negative mood states are intimately tied to bulimic behaviors and may in fact precipitate such behavior. PMID:19152874
NASA Astrophysics Data System (ADS)
Murphy, J.; Lammers, R. B.; Proussevitch, A. A.; Ozik, J.; Altaweel, M.; Collier, N. T.; Alessa, L.; Kliskey, A. D.
2014-12-01
The global hydrological cycle intersects with human decision making at multiple scales, from dams and irrigation works to the taps in individuals' homes. Residential water consumers are commonly encouraged to conserve; these messages are heard against a background of individual values and conceptions about water quality, uses, and availability. The degree to which these values impact the larger-hydrological dynamics, the way that changes in those values have impacts on the hydrological cycle through time, and the feedbacks by which water availability and quality in turn shape those values, are not well explored. To investigate this domain we employ a global-scale water balance model (WBM) coupled with a social-science-grounded agent-based model (ABM). The integration of a hydrological model with an agent-based model allows us to explore driving factors in the dynamics in coupled human-natural systems. From the perspective of the physical hydrologist, the ABM offers a richer means of incorporating the human decisions that drive the hydrological system; from the view of the social scientist, a physically-based hydrological model allows the decisions of the agents to play out against constraints faithful to the real world. We apply the interconnected models to a study of Tucson, Arizona, USA, and its role in the larger Colorado River system. Our core concept is Technology-Induced Environmental Distancing (TIED), which posits that layers of technology can insulate consumers from direct knowledge of a resource. In Tucson, multiple infrastructure and institutional layers have arguably increased the conceptual distance between individuals and their water supply, offering a test case of the TIED framework. Our coupled simulation allows us to show how the larger system transforms a resource with high temporal and spatial variability into a consumer constant, and the effects of this transformation on the regional system. We use this to explore how pricing, messaging, and social dynamics impact demand, how changes in demand affect the regional water system, and under what system challenges the values of the individuals are likely to change. This study is a preamble to modeling multiple regionally connected cities and larger systems with impacts on hydrology at the continental and global scales.
Beauchaine, Theodore P.; Gatzke-Kopp, Lisa M.
2014-01-01
During the last quarter century, developmental psychopathology has become increasingly inclusive and now spans disciplines ranging from psychiatric genetics to primary prevention. As a result, developmental psychopathologists have extended traditional diathesis–stress and transactional models to include causal processes at and across all relevant levels of analysis. Such research is embodied in what is known as the multiple levels of analysis perspective. We describe how multiple levels of analysis research has informed our current thinking about antisocial and borderline personality development among trait impulsive and therefore vulnerable individuals. Our approach extends the multiple levels of analysis perspective beyond simple Biology × Environment interactions by evaluating impulsivity across physiological systems (genetic, autonomic, hormonal, neural), psychological constructs (social, affective, motivational), developmental epochs (preschool, middle childhood, adolescence, adulthood), sexes (male, female), and methods of inquiry (self-report, informant report, treatment outcome, cardiovascular, electrophysiological, neuroimaging). By conducting our research using any and all available methods across these levels of analysis, we have arrived at a developmental model of trait impulsivity that we believe confers a greater understanding of this highly heritable trait and captures at least some heterogeneity in key behavioral outcomes, including delinquency and suicide. PMID:22781868
Raelson, John V; Little, Randall D; Ruether, Andreas; Fournier, Hélène; Paquin, Bruno; Van Eerdewegh, Paul; Bradley, W E C; Croteau, Pascal; Nguyen-Huu, Quynh; Segal, Jonathan; Debrus, Sophie; Allard, René; Rosenstiel, Philip; Franke, Andre; Jacobs, Gunnar; Nikolaus, Susanna; Vidal, Jean-Michel; Szego, Peter; Laplante, Nathalie; Clark, Hilary F; Paulussen, René J; Hooper, John W; Keith, Tim P; Belouchi, Abdelmajid; Schreiber, Stefan
2007-09-11
Genome-wide association (GWA) studies offer a powerful unbiased method for the identification of multiple susceptibility genes for complex diseases. Here we report the results of a GWA study for Crohn's disease (CD) using family trios from the Quebec Founder Population (QFP). Haplotype-based association analyses identified multiple regions associated with the disease that met the criteria for genome-wide significance, with many containing a gene whose function appears relevant to CD. A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci NOD2 and IBD5. The recently described IL23R locus was also identified and replicated. For this region, multiple individuals with all major haplotypes in the QFP were sequenced and extensive fine mapping performed to identify risk and protective alleles. Several additional loci, including a region on 3p21 containing several plausible candidate genes, a region near JAKMIP1 on 4p16.1, and two larger regions on chromosome 17 were replicated. Together with previously published loci, the spectrum of CD genes identified to date involves biochemical networks that affect epithelial defense mechanisms, innate and adaptive immune response, and the repair or remodeling of tissue.
Intersectionality in psychotherapy: The experiences of an AfroLatinx queer immigrant.
Adames, Hector Y; Chavez-Dueñas, Nayeli Y; Sharma, Shweta; La Roche, Martin J
2018-03-01
Culturally responsive and racially conscious psychotherapeutic work requires that therapists recognize the ways clients are impacted by their multiple marginalized identities and by systems of oppression (e.g., racism, ethnocentrism, sexism, heterosexism, and nativism). Attending exclusively to clients' marginalized identities (i.e., weak intersectionality) may drive therapists to only focus on internal, subjective, and emotional experiences, hence, missing the opportunity to consider and address how multiple sociostructural dimensions (i.e., strong intersectionality) may be impacting the client's presenting problems. Alternatively, focusing solely on the impact of sociostructural dimensions on the lives of clients may miss the more nuanced and variable individual personal experiences. In this article, we highlight the challenge of maintaining a culturally responsive and racially conscious stance when considering multiple marginalized identities, overlapping systemic inequities, and how both affect clients' lives and experiences. The case of an AfroLatinx queer immigrant is presented to illustrate some of the challenges and opportunities while simultaneously considering (a) the client's multiple marginalized identities, (b) the way clients are impacted by systemic oppression, and (c) integrating the client's personal experiences and narratives in psychotherapy. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
Genomic and Epigenomic Insights into Nutrition and Brain Disorders
Dauncey, Margaret Joy
2013-01-01
Considerable evidence links many neuropsychiatric, neurodevelopmental and neurodegenerative disorders with multiple complex interactions between genetics and environmental factors such as nutrition. Mental health problems, autism, eating disorders, Alzheimer’s disease, schizophrenia, Parkinson’s disease and brain tumours are related to individual variability in numerous protein-coding and non-coding regions of the genome. However, genotype does not necessarily determine neurological phenotype because the epigenome modulates gene expression in response to endogenous and exogenous regulators, throughout the life-cycle. Studies using both genome-wide analysis of multiple genes and comprehensive analysis of specific genes are providing new insights into genetic and epigenetic mechanisms underlying nutrition and neuroscience. This review provides a critical evaluation of the following related areas: (1) recent advances in genomic and epigenomic technologies, and their relevance to brain disorders; (2) the emerging role of non-coding RNAs as key regulators of transcription, epigenetic processes and gene silencing; (3) novel approaches to nutrition, epigenetics and neuroscience; (4) gene-environment interactions, especially in the serotonergic system, as a paradigm of the multiple signalling pathways affected in neuropsychiatric and neurological disorders. Current and future advances in these four areas should contribute significantly to the prevention, amelioration and treatment of multiple devastating brain disorders. PMID:23503168
Hornsby, Benjamin W. Y.; Johnson, Earl E.; Picou, Erin
2011-01-01
Objectives The purpose of this study was to examine the effects of degree and configuration of hearing loss on the use of, and benefit from, information in amplified high- and low-frequency speech presented in background noise. Design Sixty-two adults with a wide range of high- and low-frequency sensorineural hearing loss (5–115+ dB HL) participated. To examine the contribution of speech information in different frequency regions, speech understanding in noise was assessed in multiple low- and high-pass filter conditions, as well as a band-pass (713–3534 Hz) and wideband (143–8976 Hz) condition. To increase audibility over a wide frequency range, speech and noise were amplified based on each individual’s hearing loss. A stepwise multiple linear regression approach was used to examine the contribution of several factors to 1) absolute performance in each filter condition and 2) the change in performance with the addition of amplified high- and low-frequency speech components. Results Results from the regression analysis showed that degree of hearing loss was the strongest predictor of absolute performance for low- and high-pass filtered speech materials. In addition, configuration of hearing loss affected both absolute performance for severely low-pass filtered speech and benefit from extending high-frequency (3534–8976 Hz) bandwidth. Specifically, individuals with steeply sloping high-frequency losses made better use of low-pass filtered speech information than individuals with similar low-frequency thresholds but less high-frequency loss. In contrast, given similar high-frequency thresholds, individuals with flat hearing losses received more benefit from extending high-frequency bandwidth than individuals with more sloping losses. Conclusions Consistent with previous work, benefit from speech information in a given frequency region generally decreases as degree of hearing loss in that frequency region increases. However, given a similar degree of loss, the configuration of hearing loss also affects the ability to use speech information in different frequency regions. Except for individuals with steeply sloping high-frequency losses, providing high-frequency amplification (3534–8976 Hz) had either a beneficial effect on, or did not significantly degrade, speech understanding. These findings highlight the importance of extended high-frequency amplification for listeners with a wide range of high-frequency hearing losses, when seeking to maximize intelligibility. PMID:21336138
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
Emotion dysregulation and negative affect: Laboratory and EMA investigations in smokers.
MacIntyre, Jessica M; Ruscio, Aimee C; Brede, Emily; Waters, Andrew J
2018-06-01
Difficulties in emotion regulation are associated with addictive behaviors, including smoking. Difficulties in emotion regulation may underlie large, rapid changes in negative affect that can increase likelihood of relapse. We investigated the association between emotion regulation ability and negative affect in smokers assessed both in the laboratory and in the field using Ecological Momentary Assessment. Adult community smokers ( N = 44) carried a personal digital assistant (PDA) for two weeks and were instructed to complete assessments of negative affect multiple times per day. Participants were instructed that they could smoke as much or as little as they liked. The Difficulties in Emotion Regulation Scale (DERS) and the Positive and Negative Affect Schedule (PANAS) were completed at three lab visits. Participants with higher average DERS scores reported greater negative affect at lab visits. When a participant reported a DERS score at a lab visit higher than their individual average, they also reported higher negative affect at that lab visit. Participants with higher baseline DERS scores reported more labile negative affect during EMA than those with lower baseline DERS scores, and they also reported a higher maximum level of negative affect during EMA. Overall, the findings suggest that changes in emotion regulation are associated with negative affect and that emotion regulation ability is related to both the intensity and lability of negative affect. A better understanding of momentary changes in emotion regulation and negative affect may lead to improved interventions for preventing substance use relapse.
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
Mathias, Rasika Ann; Taub, Margaret A.; Gignoux, Christopher R.; Fu, Wenqing; Musharoff, Shaila; O'Connor, Timothy D.; Vergara, Candelaria; Torgerson, Dara G.; Pino-Yanes, Maria; Shringarpure, Suyash S.; Huang, Lili; Rafaels, Nicholas; Boorgula, Meher Preethi; Johnston, Henry Richard; Ortega, Victor E.; Levin, Albert M.; Song, Wei; Torres, Raul; Padhukasahasram, Badri; Eng, Celeste; Mejia-Mejia, Delmy-Aracely; Ferguson, Trevor; Qin, Zhaohui S.; Scott, Alan F.; Yazdanbakhsh, Maria; Wilson, James G.; Marrugo, Javier; Lange, Leslie A.; Kumar, Rajesh; Avila, Pedro C.; Williams, L. Keoki; Watson, Harold; Ware, Lorraine B.; Olopade, Christopher; Olopade, Olufunmilayo; Oliveira, Ricardo; Ober, Carole; Nicolae, Dan L.; Meyers, Deborah; Mayorga, Alvaro; Knight-Madden, Jennifer; Hartert, Tina; Hansel, Nadia N.; Foreman, Marilyn G.; Ford, Jean G.; Faruque, Mezbah U.; Dunston, Georgia M.; Caraballo, Luis; Burchard, Esteban G.; Bleecker, Eugene; Araujo, Maria Ilma; Herrera-Paz, Edwin Francisco; Gietzen, Kimberly; Grus, Wendy E.; Bamshad, Michael; Bustamante, Carlos D.; Kenny, Eimear E.; Hernandez, Ryan D.; Beaty, Terri H.; Ruczinski, Ingo; Akey, Joshua; Campbell, Monica; Chavan, Sameer; Foster, Cassandra; Gao, Li; Horowitz, Edward; Ortiz, Romina; Potee, Joseph; Gao, Jingjing; Hu, Yijuan; Hansen, Mark; Deshpande, Aniket; Locke, Devin P.; Grammer, Leslie; Kim, Kwang-YounA; Schleimer, Robert; De La Vega, Francisco M.; Szpiech, Zachary A.; Oluwole, Oluwafemi; Arinola, Ganiyu; Correa, Adolfo; Musani, Solomon; Chong, Jessica; Nickerson, Deborah; Reiner, Alexander; Maul, Pissamai; Maul, Trevor; Martinez, Beatriz; Meza, Catherine; Ayestas, Gerardo; Landaverde-Torres, Pamela; Erazo, Said Omar Leiva; Martinez, Rosella; Mayorga, Luis F.; Ramos, Hector; Saenz, Allan; Varela, Gloria; Vasquez, Olga Marina; Samms-Vaughan, Maureen; Wilks, Rainford J.; Adegnika, Akim; Ateba-Ngoa, Ulysse; Barnes, Kathleen C.
2016-01-01
The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale population structure of descendants of the African Diaspora remains largely uncharacterized. Here we present genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the burden of deleterious variants carried across populations and how this varies with African ancestry. Our data are an important resource for empowering disease mapping studies in African-admixed individuals and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry. PMID:27725671
SEGMENTAL NEUROFIBROMATOSIS: A REPORT OF 3 CASES
Gabhane, Sushma Kashinath; Kotwal, Mrunmayi Nishikant; Bobhate, Sudhakar K
2010-01-01
Neurofibromatosis is a genetic disorder of neural crest-derived cells that primarily affect growth of neural tissues. It is broadly divided into three categories: (a) von Recklinghausen's neurofibromatosis or NF-1, (b) bilateral acoustic neuroma (NF-2), and (c) all other neurofibromatoses, including alternate or atypical forms of the disease. The patients with generalized form of NF1 are characterized by multiple café-au-lait spots and neurofibromas and diagnosed easily. But when an individual has small number of lesions in a limited region of the body it could be neglected by the patient or not be recognized by the clinicians as a segmental form of neurofibromatosis. We describe three cases of segmental neurofibromatosis (SNF). These cases have been classified as segmental NF according to Riccardi's definition of SNF and classification of neurofibromatosis. Segmental form of NF may evolve into a complete form over time. Also, this disorder may be transmitted to the offspring's of these individuals. Hence genetic counseling of these individuals must include these facts. PMID:20418991
Weeks, Margaret R; Convey, Mark; Dickson-Gomez, Julia; Li, Jianghong; Radda, Kim; Martinez, Maria; Robles, Eduardo
2009-06-01
Peer delivered, social oriented HIV prevention intervention designs are increasingly popular for addressing broader contexts of health risk beyond a focus on individual factors. Such interventions have the potential to affect multiple social levels of risk and change, including at the individual, network, and community levels, and reflect social ecological principles of interaction across social levels over time. The iterative and feedback dynamic generated by this multi-level effect increases the likelihood for sustained health improvement initiated by those trained to deliver the peer intervention. The Risk Avoidance Partnership (RAP), conducted with heroin and cocaine/crack users in Hartford, Connecticut, exemplified this intervention design and illustrated the multi-level effect on drug users' risk and harm reduction at the individual level, the social network level, and the larger community level. Implications of the RAP program for designing effective prevention programs and for analyzing long-term change to reduce HIV transmission among high-risk groups are discussed from this ecological and multi-level intervention perspective.
Odour dialects among wild mammals.
Kean, Eleanor Freya; Bruford, Michael William; Russo, Isa-Rita M; Müller, Carsten Theodor; Chadwick, Elizabeth Anna
2017-10-19
Across multiple taxa, population structure and dynamics depend on effective signalling between individuals. Among mammals, chemical communication is arguably the most important sense, underpinning mate choice, parental care, territoriality and even disease transmission. There is a growing body of evidence that odours signal genetic information that may confer considerable benefits including inbreeding avoidance and nepotism. To date, however, there has been no clear evidence that odours encode population-level information in wild mammals. Here we demonstrate for the first time the existence of 'odour dialects' in genetically distinct mammalian subpopulations across a large geographical scale. We found that otters, Lutra lutra, from across the United Kingdom possess sex and biogeography-specific odours. Subpopulations with the most distinctive odour profiles are also the most genetically diverse but not the most genetically differentiated. Furthermore, geographic distance between individuals does not explain regional odour differences, refuting other potential explanations such as group odour sharing behaviour. Differences in the language of odours between subpopulations have the potential to affect individual interactions, which could impact reproduction and gene-flow.
Kiene, Susan M; Simbayi, Leickness C; Abrams, Amber; Cloete, Allanise
2016-01-01
Literature from sub-Saharan Africa and elsewhere supports a global association between alcohol and HIV risk. However, more rigorous studies using multiple event-level methods find mixed support for this association, suggesting the importance of examining potential moderators of this relationship. The present study explores the assumptions of alcohol expectancy theory and alcohol myopia theory as possible moderators that help elucidate the circumstances under which alcohol may affect individuals' ability to use a condom. Participants were 82 individuals (58 women, 24 men) living with HIV who completed daily phone interviews for 42 days which assessed daily sexual behavior and alcohol consumption. Logistic generalized estimating equation models were used to examine the potential moderating effects of inhibition conflict and sex-related alcohol outcome expectancies. The data provided some support for both theories and in some cases the moderation effects were stronger when both partners consumed alcohol.
Specifying the non-specific factors underlying opioid analgesia: Expectancy, attention, and affect
Atlas, Lauren Y.; Wielgosz, Joseph; Whittington, Robert A.; Wager, Tor D.
2013-01-01
Rationale Psychological processes such as expectancy, attention, and affect directly influence clinical outcomes. These factors are grouped together as “nonspecific” factors, or placebo effects, in the medical literature, and their individual contributions are rarely considered. The pain-reducing effects of analgesic treatments may reflect changes in these psychological factors, rather than pure drug effects on pain. Furthermore, drug effects may not be isolated by drug vs. placebo comparisons if drugs interact with relevant psychological processes. Objectives To determine whether the analgesic effects of opioid and placebo treatment are mediated by changes in attention, expectancy, or affect. Methods We crossed intravenous administration of a potent opioid analgesic, remifentanil, with information about drug delivery (treatment expectancy, or placebo) using a balanced placebo design. We measured drug and treatment expectancy effects on pain, attention, and responses to emotional images. We also examined interactions with cue-based expectations about noxious stimulation, or stimulus expectancy. Results Pain was additively influenced by treatment expectancy, stimulus expectancy, and drug concentration. Attention performance showed a small but significant interaction between drug and treatment expectancy. Finally, remifentanil enhanced responses to both positive and negative emotional images. Conclusions The pain-relieving effects of opioid drugs are unlikely to be mediated by changes in threat or affective processing. Standard open-label opioid administration influences multiple clinically relevant cognitive and emotional processes. Psychological factors can combine with drug effects to influence multiple outcomes in distinct ways. The influence of specific psychological factors should be considered when developing and testing pharmacological treatments. PMID:24096537
Timshel, Isabelle; Montgomery, Edith; Dalgaard, Nina Thorup
2017-08-01
The current systematic review summarizes the evidence from studies examining the risk and protective factors associated with family related violence in refugee families. Data included 15 peer-reviewed qualitative and quantitative studies. In order to gain an overview of the identified risk and protective factors an ecological model was used to structure the findings. At the individual level, parental trauma experiences/mental illness, substance abuse and history of child abuse were found to be risk factors. Family level risk factors included parent-child interaction, family structure and family acculturation stress. At the societal level low socioeconomic status was identified as a risk factor. Cultural level risk factors included patriarchal beliefs. Positive parental coping strategies were a protective factor. An ecological analysis of the results suggests that family related violence in refugee families is a result of accumulating, multiple risk factors on the individual, familial, societal and cultural level. The findings suggest that individual trauma and exile related stress do not only affect the individual but have consequences at a family level. Thus, interventions targeting family related violence should not only include the individual, but the family. Copyright © 2017 Elsevier Ltd. All rights reserved.
Poor phonetic perceivers are affected by cognitive load when resolving talker variability
Antoniou, Mark; Wong, Patrick C. M.
2015-01-01
Speech training paradigms aim to maximise learning outcomes by manipulating external factors such as talker variability. However, not all individuals may benefit from such manipulations because subject-external factors interact with subject-internal ones (e.g., aptitude) to determine speech perception and/or learning success. In a previous tone learning study, high-aptitude individuals benefitted from talker variability, whereas low-aptitude individuals were impaired. Because increases in cognitive load have been shown to hinder speech perception in mixed-talker conditions, it has been proposed that resolving talker variability requires cognitive resources. This proposal leads to the hypothesis that low-aptitude individuals do not use their cognitive resources as efficiently as those with high aptitude. Here, high- and low-aptitude subjects identified pitch contours spoken by multiple talkers under high and low cognitive load conditions established by a secondary task. While high-aptitude listeners outperformed low-aptitude listeners across load conditions, only low-aptitude listeners were impaired by increased cognitive load. The findings suggest that low-aptitude listeners either have fewer available cognitive resources or are poorer at allocating attention to the signal. Therefore, cognitive load is an important factor when considering individual differences in speech perception and training paradigms. PMID:26328675
Poor phonetic perceivers are affected by cognitive load when resolving talker variability.
Antoniou, Mark; Wong, Patrick C M
2015-08-01
Speech training paradigms aim to maximise learning outcomes by manipulating external factors such as talker variability. However, not all individuals may benefit from such manipulations because subject-external factors interact with subject-internal ones (e.g., aptitude) to determine speech perception and/or learning success. In a previous tone learning study, high-aptitude individuals benefitted from talker variability, whereas low-aptitude individuals were impaired. Because increases in cognitive load have been shown to hinder speech perception in mixed-talker conditions, it has been proposed that resolving talker variability requires cognitive resources. This proposal leads to the hypothesis that low-aptitude individuals do not use their cognitive resources as efficiently as those with high aptitude. Here, high- and low-aptitude subjects identified pitch contours spoken by multiple talkers under high and low cognitive load conditions established by a secondary task. While high-aptitude listeners outperformed low-aptitude listeners across load conditions, only low-aptitude listeners were impaired by increased cognitive load. The findings suggest that low-aptitude listeners either have fewer available cognitive resources or are poorer at allocating attention to the signal. Therefore, cognitive load is an important factor when considering individual differences in speech perception and training paradigms.
Maguire-Jack, Kathryn; Font, Sarah A
2017-08-01
Families are impacted by a variety of risk and protective factors for maltreatment at multiple levels of the social ecology. Individual- and neighborhood-level poverty has consistently been shown to be associated with higher risk for child abuse and neglect. The current study sought to understand the ways in which individual- and neighborhood-level risk and protective factors affect physical child abuse and child neglect and whether these factors differed for families based on their individual poverty status. Specifically, we used a three-level hierarchical linear model (families nested within census tracts and nested within cities) to estimate the relationships between physical child abuse and child neglect and neighborhood structural factors, neighborhood processes, and individual characteristics. We compared these relationships between lower and higher income families in a sample of approximately 3,000 families from 50 cities in the State of California. We found that neighborhood-level disadvantage was especially detrimental for families in poverty and that neighborhood-level protective processes (social) were not associated with physical child abuse and child neglect for impoverished families, but that they had a protective effect for higher income families.
Social media, social avatars and the psyche: is Facebook good for us?
Brunskill, David
2013-12-01
This paper aims to explore how social media users represent themselves online, and to consider whether this process has inherent potential to impact upon the psyche of the individual. Advanced thinking around social media may exist on an organizational level, but on an individual level there exists a need to catch up, as the psychological dimensions of going online are significant and deserve consideration. Inherent to the experience of using social media is the self selection of favorable material to represent the individual. This process is cumulative, and effectively creates a socially-derived and socially-driven, composite online image ('social avatar'). Humans notably select their best aspects for presentation to others and the social avatar reflects this tendency, effectively facilitating the creation of a 'gap' between online image (representation) and offline identity (substance). The creation of a social avatar should therefore be an important and conscious consideration for all users of social media, not just those individuals already struggling with the task of integrating the multiple facets which make up modern personal identity. Social avatars appear to be an important factor in understanding the inherent potential for social media to affect the psyche/contribute to psychopathology within the individual.
Carta, Claudio; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Stella, Lorenzo; Vasta, Isabella; Sarkozy, Anna; Digilio, Cristina; Palleschi, Antonio; Pizzuti, Antonio; Grammatico, Paola; Zampino, Giuseppe; Dallapiccola, Bruno; Gelb, Bruce D.; Tartaglia, Marco
2006-01-01
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart disease, and multiple skeletal and hematologic defects. NS is an autosomal dominant trait and is genetically heterogeneous. Gain of function of SHP-2, a protein tyrosine phosphatase that positively modulates RAS signaling, is observed in nearly 50% of affected individuals. Here, we report the identification of heterozygous KRAS gene mutations in two subjects exhibiting a severe NS phenotype with features overlapping those of cardiofaciocutaneous and Costello syndromes. Both mutations were de novo and affected exon 6, which encodes the C-terminal portion of KRAS isoform B but does not contribute to KRAS isoform A. Structural analysis indicated that both substitutions (Val152Gly and Asp153Val) perturb the conformation of the guanine ring–binding pocket of the protein, predicting an increase in the guanine diphosphate/guanine triphosphate (GTP) dissociation rate that would favor GTP binding to the KRASB isoform and bypass the requirement for a guanine nucleotide exchange factor. PMID:16773572
Heart Rate, Life Expectancy and the Cardiovascular System: Therapeutic Considerations.
Boudoulas, Konstantinos Dean; Borer, Jeffrey S; Boudoulas, Harisios
2015-01-01
It has long been known that life span is inversely related to resting heart rate in most organisms. This association between heart rate and survival has been attributed to the metabolic rate, which is greater in smaller animals and is directly associated with heart rate. Studies have shown that heart rate is related to survival in apparently healthy individuals and in patients with different underlying cardiovascular diseases. A decrease in heart rate due to therapeutic interventions may result in an increase in survival. However, there are many factors regulating heart rate, and it is quite plausible that these may independently affect life expectancy. Nonetheless, a fast heart rate itself affects the cardiovascular system in multiple ways (it increases ventricular work, myocardial oxygen consumption, endothelial stress, aortic/arterial stiffness, decreases myocardial oxygen supply, other) which, in turn, may affect survival. In this brief review, the effects of heart rate on the heart, arterial system and survival will be discussed. © 2015 S. Karger AG, Basel.
MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome
Siew, Wei-Hong; Tan, Kai-Leng; Babaei, Maryam Abbaspour; Cheah, Pike-See; Ling, King-Hwa
2013-01-01
Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a broad spectrum of affected clinical and behavioral characteristics among patients. Until now, the causative mechanism of ID is unknown and the progression of the condition is poorly understood. Advancement in technology and research had identified various genetic abnormalities and defects as the potential cause of ID. However, the link between these abnormalities with ID is remained inconclusive and the roles of many newly discovered genetic components such as non-coding RNAs have not been thoroughly investigated. In this review, we aim to consolidate and assimilate the latest development and findings on a class of small non-coding RNAs known as microRNAs (miRNAs) involvement in ID development and progression with special focus on Down syndrome (DS) and X-linked ID (XLID) [including Fragile X syndrome (FXS)]. PMID:23596395
[Rational use of psychotropic drugs and social communication role].
Montero, F
1994-06-01
Extra-clinical factors about the influences affecting the prescription and use of drugs are reviewed. Special attention is given to regulatory agencies, the pharmaceutical industry, and mass media. The problems and public health consequences of the irrational use of drugs are rarely documented in Latin America. Analysis of these factors, information sources, and rational use of psychotropic drugs will require multiple strategies such as social communication and policy formulation to define goals and objectives related to population information, doctors' and individual citizens' decision making processes, and participation of consumers in improving the use of psychotropic drugs.
Human genetic variation and the gut microbiome in disease.
Hall, Andrew Brantley; Tolonen, Andrew C; Xavier, Ramnik J
2017-11-01
Taxonomic and functional changes to the composition of the gut microbiome have been implicated in multiple human diseases. Recent microbiome genome-wide association studies reveal that variants in many human genes involved in immunity and gut architecture are associated with an altered composition of the gut microbiome. Although many factors can affect the microbial organisms residing in the gut, a number of recent findings support the hypothesis that certain host genetic variants predispose an individual towards microbiome dysbiosis. This condition, in which the normal microbiome population structure is disturbed, is a key feature in disorders of metabolism and immunity.
Modeling manipulation in medical education.
Dailey, Jason I
2010-05-01
As residents and medical students progress through their medical training, they are presented with multiple instances in which they feel they must manipulate the healthcare system and deceive others in order to efficiently treat their patients. This, however, creates a culture of manipulation resulting in untoward effects on trainees' ethical and professional development. Yet manipulation need not be a skill necessary to practice medicine, and steps should be taken by both individuals and institutions to combat the view that the way medicine must be practiced "in the real world" is somehow different from what one's affective moral sense implores.
Diverticular Disease-associated Colitis: What Do We Know? A Review of Literature.
Haddad, Fady G; El Bitar, Sandy; Al Moussawi, Hassan; Chang, Qing; Deeb, Liliane
2018-02-24
Diverticular disease (DD) is a leading cause of hospitalizations in developed countries affecting 30-50% of individuals older than 60 years. Identified as a distinct entity since 1980, diverticular disease-associated colitis (DAC) describes the occurrence of mucosal inflammation in a colon segment affected with DD with relative sparing of the rectum and proximal colon. Its prevalence is suggested around 1.3-3.8%. Pathogenesis is multifactorial with multiple reports noting clinicopathological overlap between DAC and inflammatory bowel disease (IBD) especially in patients with granulomatous colitis. In this setting, caution should be exercised to avoid an inappropriate diagnosis of IBD. Recurrence rates and long-term outcomes of DAC are not well defined and could range from a benign course to an overt IBD. More studies are needed in order to further characterize this entity.
Eide, Per K; Ringstad, Geir
2018-01-01
The glymphatic system plays a key role for clearance of waste solutes from the rodent brain. We recently found evidence of glymphatic circulation in the human brain when using magnetic resonance imaging (MRI) contrast agent as cerebrospinal fluid (CSF) tracer in conjunction with multiple MRI acquisitions (gMRI). The present study explored the hypothesis that reduced glymphatic clearance in entorhinal cortex (ERC) may be instrumental in idiopathic normal pressure hydrocephalus (iNPH) dementia. gMRI acquisitions were obtained over a 24-48 h time span in cognitively affected iNPH patients and non-cognitively affected patients with suspected CSF leaks. The CSF tracer enrichment was determined as changes in normalized MRI T1 signal units. The study included 30 patients with iNPH and 8 individuals with suspected CSF leaks (i.e. reference individuals). Compared to reference individuals, iNPH patients presented with higher medial temporal lobe atrophy score and Evan's index and inferior ERC thickness. We found delayed clearance of the intrathecal CSF tracer gadobutrol from CSF, the ERC and adjacent white matter, suggesting impaired glymphatic circulation. Reduced clearance and accumulation of toxic waste product such as amyloid-β may be a mechanism behind dementia in iNPH. Glymphatic MRI (gMRI) may become a tool for assessment of early dementia.
Mutational analysis of patients with neurofibromatosis 2
DOE Office of Scientific and Technical Information (OSTI.GOV)
MacCollin, M.; Ramesh, V.; Pulaski, K.
Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member, merlin, of the protein 4.1 family of cytoskeleton-associated proteins. To define the molecular basis of NF2 in affected individuals, the authors have used SSCP analysis to scan the exons of the NF2 gene from 33 unrelated patients with NF2. Twenty unique SSCP variants were seen in 21 patients; 10 of these individuals were known to be the only affected person in their kindred, while 7 had at leastmore » one other known affected relative. In all cases in which family members were available, the SSCP variant segregated with the disease; comparison of sporadic cases with their parents confirmed the de novo variants. DNA sequence analysis revealed that 19 of the 20 variants observed are predicted to lead to a truncated protein due to frameshift, creation of a stop codon, or interference with normal RNA splicing. A single patient carried a 3-bp deletion removing a phenylalanine residue. The authors conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in the gene is rare. 18 refs., 3 figs., 2 tabs.« less
Blundell Jones, Joanna; Walsh, Sue; Isaac, Claire
2017-12-01
This integrative literature review uses cognitive analytic therapy (CAT) theory to examine the impact of a chronic illness, multiple sclerosis (MS), on relationships and mental health. Electronic searches were conducted in six medical and social science databases. Thirty-eight articles met inclusion criteria, and also satisfied quality criteria. Articles revealed that MS-related demands change care needs and alter relationships. Using a CAT framework, the MS literature was analysed, and five key patterns of relating to oneself and to others were identified. A diagrammatic formulation is proposed that interconnects these patterns with wellbeing and suggests potential "exits" to improve mental health, for example, assisting families to minimise overprotection. Application of CAT analysis to the literature clarifies relational processes that may affect mental health among individuals with MS, which hopefully will inform how services assist in reducing unhelpful patterns and improve coping. Further investigation of the identified patterns is needed.
Modeling Human Cancers in Drosophila.
Sonoshita, M; Cagan, R L
2017-01-01
Cancer is a complex disease that affects multiple organs. Whole-body animal models provide important insights into oncology that can lead to clinical impact. Here, we review novel concepts that Drosophila studies have established for cancer biology, drug discovery, and patient therapy. Genetic studies using Drosophila have explored the roles of oncogenes and tumor-suppressor genes that when dysregulated promote cancer formation, making Drosophila a useful model to study multiple aspects of transformation. Not limited to mechanism analyses, Drosophila has recently been showing its value in facilitating drug development. Flies offer rapid, efficient platforms by which novel classes of drugs can be identified as candidate anticancer leads. Further, we discuss the use of Drosophila as a platform to develop therapies for individual patients by modeling the tumor's genetic complexity. Drosophila provides both a classical and a novel tool to identify new therapeutics, complementing other more traditional cancer tools. © 2017 Elsevier Inc. All rights reserved.
Properties of the internal clock.
Church, R M
1984-01-01
Evidence has been cited for the following properties of the parts of the psychological process used for timing intervals: The pacemaker has a mean rate that can be varied by drugs, diet, and stress. The switch has a latency to operate and it can be operated in various modes, such as run, stop, and reset. The accumulator times up, in absolute, arithmetic units. Working memory can be reset on command or, after lesions have been created in the fimbria fornix, when there is a gap in a signal. The transformation from the accumulator to reference memory is done with a multiplicative constant that is affected by drugs, lesions, and individual differences. The comparator uses a ratio between the value in the accumulator (or working memory) and reference memory. Finally, there must be multiple switch-accumulator modules to handle simultaneous temporal processing; and the psychological timing process may be used on some occasions and not on others.
Physiotherapy for poliomyelitis: a descriptive study in the Republic of Congo.
Mancini, Silvia; Coldiron, Matthew E; Nicholas, Sarala; Llosa, Augusto E; Mouniaman-Nara, Isabelle; Ngala, Joseph; Grais, Rebecca F; Porten, Klaudia
2014-10-23
A large poliomyelitis outbreak occurred in 2010 in the Republic of Congo. This paper describes the demographic and clinical characteristics of poliomyelitis cases and their outcomes following physiotherapy. Demographic and clinical data were collected on 126 individuals between November 23, 2010 and March 23, 2011. The male/female ratio was 2.5 and the median age was 19 years (IQR: 13.5-23). The most severe forms of the disease were more common in older patients, 81 of the 126 patients (64.3%) had multiple evaluations of muscle strength. Among patients with multiple evaluations, 38.1% had improved strength at final evaluation, 48.3% were stable and 13.6% had decreased strength. Most acute poliomyelitis patients receiving physiotherapy had improved or stable muscle strength at their final evaluation. These descriptive results highlight the need for further research into the potential benefits of physiotherapy in polio affected patients.
Macrodontia, shovel-shaped incisors, and multituberculism: probable Ekman-Westborg-Julin trait.
Reardon, Gayle Tieszen; Slayton, L Rebecca; Norby, Clinton; Geneser, Teresa
2012-01-01
Multiple macrodontia is a rare finding and is defined as a condition in which a tooth is significantly larger than normal. Macrodontia may occur as an isolated finding, part of a group of dental anomalies, or as a component of a syndrome with multiple oral and systemic manifestations. The purpose of this paper was to report a case of macrodontia affecting all permanent teeth and exhibiting shovel-shaped maxillary and mandibular incisors and multituberculate molars and premolars. Some or all of this patient's characteristics have been reported in both males and females, with a ratio of 5:2. No inheritance pattern has been established, as these traits have generally occurred spontaneously. As more individuals are identified and as molecular techniques continue to advance, it is probable that a gene or genes responsible for macrodontia and the associated traits will be identified.
FITNESS CONSEQUENCES OF MULTIPLE PATERNITY IN WILD RADISH, RAPHANUS SATIVUS.
Karron, Jeffrey D; Marshall, Diane L
1990-03-01
In natural populations, wild radish plants typically mate with 6-8 pollen donors, and seeds of individual fruits are usually sired by 1-4 fathers. Since radish fruits are indehiscent and gravity-dispersed, progeny are most likely to compete with a mixture of full and half siblings. The fitness consequences of single and multiple paternity were investigated in a greenhouse experiment. Seeds of every possible cross in a 5 times 5 reciprocal diallel mating design were assigned to one of three competition regimes (four full siblings, four maternal half siblings, or four unrelated individuals per pot) or were grown as singletons. After 14 weeks, the aboveground biomass of all plants was harvested and oven-dried. The dry weight of singletons was more than three times that of progeny grown in competition, indicating that intraspecific competition had occurred. Full- and half-sib progenies did not differ in mean dry weight. Thus, there was no evidence that multiple paternity enhances this aspect of maternal fitness. However, the competition regime dramatically affected the coefficient of variation in dry weight of progeny within a pot. Weight hierarchies were much more pronounced in pots of half sibs and unrelated neighbors than in pots of full sibs. Also variance in dry weight attributable to sire was greatest in the half-sib and "unrelated neighbors" competition regimes. These results suggest that weight hierarchies reinforce genetic differences among the offspring. © 1990 The Society for the Study of Evolution.
Kondolf, G. Mathias; Angermeier, Paul L.; Cummins, Kenneth; Dunne, Thomas; Healey, Michael; Kimmerer, Wim; Moyle, Peter B.; Murphy, Dennis; Patten, Duncan; Railsback, Steve F.; Reed, Denise J.; Spies, Robert B.; Twiss, Robert
2008-01-01
Despite increasingly large investments, the potential ecological effects of river restoration programs are still small compared to the degree of human alterations to physical and ecological function. Thus, it is rarely possible to “restore” pre-disturbance conditions; rather restoration programs (even large, well-funded ones) will nearly always involve multiple small projects, each of which can make some modest change to selected ecosystem processes and habitats. At present, such projects are typically selected based on their attributes as individual projects (e.g., consistency with programmatic goals of the funders, scientific soundness, and acceptance by local communities), and ease of implementation. Projects are rarely prioritized (at least explicitly) based on how they will cumulatively affect ecosystem function over coming decades. Such projections require an understanding of the form of the restoration response curve, or at least that we assume some plausible relations and estimate cumulative effects based thereon. Drawing on our experience with the CALFED Bay-Delta Ecosystem Restoration Program in California, we consider potential cumulative system-wide benefits of a restoration activity extensively implemented in the region: isolating/filling abandoned floodplain gravel pits captured by rivers to reduce predation of outmigrating juvenile salmon by exotic warmwater species inhabiting the pits. We present a simple spreadsheet model to show how different assumptions about gravel pit bathymetry and predator behavior would affect the cumulative benefits of multiple pit-filling and isolation projects, and how these insights could help managers prioritize which pits to fill.
Post-traumatic stress disorder.
Bisson, Jonathan I
2010-02-03
Post-traumatic stress disorder (PTSD) may affect 10% of women and 5% of men at some stage, and symptoms may persist for several years. Risk factors include major trauma, lack of social support, peritraumatic dissociation, and previous psychiatric history or personality factors. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of interventions to prevent PTSD? What are the effects of interventions to treat PTSD? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: affect management; antiepileptic drugs; antihypertensive drugs; benzodiazepines; brofaromine; CBT; drama therapy; eye movement desensitisation and reprocessing; fluoxetine; group therapy; hydrocortisone; hypnotherapy; inpatient treatment programmes; Internet-based psychotherapy; mirtazapine; multiple-session CBT; multiple-session collaborative trauma support; multiple-session education; nefazodone; olanzapine; paroxetine; phenelzine; psychodynamic psychotherapy; risperidone; SSRIs (versus other antidepressants); sertraline; single-session group debriefing; single-session individual debriefing; supportive psychotherapy; supportive counselling; temazepam; tricyclic antidepressants; and venlafaxine.
Post-traumatic stress disorder
2010-01-01
Introduction Post-traumatic stress disorder (PTSD) may affect 10% of women and 5% of men at some stage, and symptoms may persist for several years. Risk factors include major trauma, lack of social support, peritraumatic dissociation, and previous psychiatric history or personality factors. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of interventions to prevent PTSD? What are the effects of interventions to treat PTSD? We searched: Medline, Embase, The Cochrane Library, and other important databases up to March 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 46 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: affect management; antiepileptic drugs; antihypertensive drugs; benzodiazepines; brofaromine; CBT; drama therapy; eye movement desensitisation and reprocessing; fluoxetine; group therapy; hydrocortisone; hypnotherapy; inpatient treatment programmes; Internet-based psychotherapy; mirtazapine; multiple-session CBT; multiple-session collaborative trauma support; multiple-session education; nefazodone; olanzapine; paroxetine; phenelzine; psychodynamic psychotherapy; risperidone; SSRIs (versus other antidepressants); sertraline; single-session group debriefing; single-session individual debriefing; supportive psychotherapy; supportive counselling; temazepam; tricyclic antidepressants; and venlafaxine. PMID:21718580
Camargo, Marcela R; Barela, José A; Nozabieli, Andréa J L; Mantovani, Alessandra M; Martinelli, Alessandra R; Fregonesi, Cristina E P T
2015-01-01
The aims of this study were to evaluate aspects of balance, ankle muscle strength and spatiotemporal gait parameters in individuals with diabetic peripheral neuropathy (DPN) and verify whether deficits in spatiotemporal gait parameters were associated with ankle muscle strength and balance performance. Thirty individuals with DPN and 30 control individuals have participated. Spatiotemporal gait parameters were evaluated by measuring the time to walk a set distance during self-selected and maximal walking speeds. Functional mobility and balance performance were assessed using the Functional Reach and the Time Up and Go tests. Ankle isometric muscle strength was assessed with a handheld digital dynamometer. Analyses of variance were employed to verify possible differences between groups and conditions. Multiple linear regression analysis was employed to uncover possible predictors of gait deficits. Gait spatiotemporal, functional mobility, balance performance and ankle muscle strength were affected in individuals with DPN. The Time Up and Go test performance and ankle muscle isometric strength were associated to spatiotemporal gait changes, especially during maximal walking speed condition. Functional mobility and balance performance are damaged in DPN and balance performance and ankle muscle strength can be used to predict spatiotemporal gait parameters in individuals with DPN. Copyright © 2015 Diabetes India. Published by Elsevier Ltd. All rights reserved.
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey, Helen; Savige, Judy; Sivakumar, Vanessa; Abbs, Stephen; Flinter, Frances A
2013-12-01
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic mutations in either COL4A3 or COL4A4. Here, we describe the mutations and clinical features in 40 individuals including 9 children and 21 female individuals (53%) with autosomal recessive inheritance indicated by the detection of two mutations. The median age was 31 years (range, 6-54 years). The median age at end stage renal failure was 22.5 years (range, 10-38 years), but renal function was normal in nine adults (29%). Hearing loss and ocular abnormalities were common (23 of 35 patients [66%] and 10 of 18 patients [56%], respectively). Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4. Of the 68 variants identified, 39 were novel, 12 were homozygous changes, and 9 were present in multiple individuals, including c.2906C>G (p.(Ser969*)) in COL4A4, which was found in 23% of the patients. Thirty-six variants (53%) resulted directly or indirectly in a stop codon, and all 17 individuals with early onset renal failure had at least one such mutation, whereas these mutations were less common in patients with normal renal function or late-onset renal failure. In conclusion, patient phenotypes may vary depending on the underlying mutations, and genetic testing should be considered for the routine diagnosis of autosomal recessive Alport syndrome.
COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome
Savige, Judy; Sivakumar, Vanessa; Abbs, Stephen; Flinter, Frances A.
2013-01-01
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic mutations in either COL4A3 or COL4A4. Here, we describe the mutations and clinical features in 40 individuals including 9 children and 21 female individuals (53%) with autosomal recessive inheritance indicated by the detection of two mutations. The median age was 31 years (range, 6–54 years). The median age at end stage renal failure was 22.5 years (range, 10–38 years), but renal function was normal in nine adults (29%). Hearing loss and ocular abnormalities were common (23 of 35 patients [66%] and 10 of 18 patients [56%], respectively). Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4. Of the 68 variants identified, 39 were novel, 12 were homozygous changes, and 9 were present in multiple individuals, including c.2906C>G (p.(Ser969*)) in COL4A4, which was found in 23% of the patients. Thirty-six variants (53%) resulted directly or indirectly in a stop codon, and all 17 individuals with early onset renal failure had at least one such mutation, whereas these mutations were less common in patients with normal renal function or late-onset renal failure. In conclusion, patient phenotypes may vary depending on the underlying mutations, and genetic testing should be considered for the routine diagnosis of autosomal recessive Alport syndrome. PMID:24052634
NASA Astrophysics Data System (ADS)
Marsden, Islay D.; Baharuddin, Nursalwa
2015-04-01
The effects of multiple stressors on estuarine organisms are not well understood. Using cage experiments we measured the survival and growth of the pulmonate gastropod Amphibola crenata at five locations which differed contaminant levels. Water nutrients came from a nearby sewage treatment works and the sediment contained low levels of trace metals. Over 6 weeks of exposure, sediment surface chlorophyll levels varied amongst locations. The Chl a values were positively correlated with sediment N and P and trace metals As, Cd, Cu, Pb and Zn. Pulmonate survival depended on location, highest mortality was from a site close to the treatment plant and mortality rate of large individuals decreased significantly with distance away from it. For four locations, medium A. crenata had higher survival than small (juveniles) or adults. Growth rates of small individuals exceeded those for medium and large A. crenata. The mean length increment/week for medium gastropods ranged between 0.49 and 1.11 mm and was negatively correlated with the amount of Chl a in the surface sediment, suggesting the negative effects of eutrophication on gastropod growth. Growth rate of the pulmonate was not correlated with nutrient concentration or trace metal concentrations in the sediment. The dry weight condition index (CI) did not correlate with the growth rate, and for medium individuals, was unaffected by any of the environmental variables. The CI of small individuals was negatively affected by increasing water nutrient levels and the CI of large individuals negatively affected by increasing sediment nutrients and trace metal concentrations. The results from this study suggest that gastropod growth and survival could be used as tools to monitor the effects of changing nutrient levels and recovery from eutrophication within temperate estuaries.
2010-01-01
Background Participant nonresponse in an HIV serosurvey can affect estimates of HIV prevalence. Nonresponse can arise from a participant's refusal to provide a blood sample or the failure to trace a sampled individual. In a serosurvey conducted by the African Population and Health Research Center and Kenya Medical Research Centre in the slums of Nairobi, 43% of sampled individuals did not provide a blood sample. This paper describes selective participation in the serosurvey and estimates bias in HIV prevalence figures. Methods The paper uses data derived from an HIV serosurvey nested in an on-going demographic surveillance system. Nonresponse was assessed using logistic regression and multiple imputation methods to impute missing data for HIV status using a set of common variables available for all sampled participants. Results Age, residence, high mobility, wealth, and ethnicity were independent predictors of a sampled individual not being contacted. Individuals aged 30-34 years, females, individuals from the Kikuyu and Kamba ethnicity, married participants, and residents of Viwandani were all less likely to accept HIV testing when contacted. Although men were less likely to be contacted, those found were more willing to be tested compared to females. The overall observed HIV prevalence was overestimated by 2%. The observed prevalence for male participants was underestimated by about 1% and that for females was overestimated by 3%. These differences were small and did not affect the overall estimate substantially as the observed estimates fell within the confidence limits of the corrected prevalence estimate. Conclusions Nonresponse in the HIV serosurvey in the two informal settlements was high, however, the effect on overall prevalence estimate was minimal. PMID:20649957
Studying parents and grandparents to assess genetic contributions to early-onset disease.
Weinberg, Clarice R
2003-02-01
Suppose DNA is available from affected individuals, their parents, and their grandparents. Particularly for early-onset diseases, maternally mediated genetic effects can play a role, because the mother determines the prenatal environment. The proposed maximum-likelihood approach for the detection of apparent transmission distortion treats the triad consisting of the affected individual and his or her two parents as the outcome, conditioning on grandparental mating types. Under a null model in which the allele under study does not confer susceptibility, either through linkage or directly, and when there are no maternally mediated genetic effects, conditional probabilities for specific triads are easily derived. A log-linear model permits a likelihood-ratio test (LRT) and allows the estimation of relative penetrances. The proposed approach is robust against genetic population stratification. Missing-data methods permit the inclusion of incomplete families, even if the missing person is the affected grandchild, as is the case when an induced abortion has followed the detection of a malformation. When screening multiple markers, one can begin by genotyping only the grandparents and the affected grandchildren. LRTs based on conditioning on grandparental mating types (i.e., ignoring the parents) have asymptotic relative efficiencies that are typically >150% (per family), compared with tests based on parents. A test for asymmetry in the number of copies carried by maternal versus paternal grandparents yields an LRT specific to maternal effects. One can then genotype the parents for only the genes that passed the initial screen. Conditioning on both the grandparents' and the affected grandchild's genotypes, a third log-linear model captures the remaining information, in an independent LRT for maternal effects.
Factors affecting trip generation of motorcyclist for the purpose of non-mandatory activities
NASA Astrophysics Data System (ADS)
Anggraini, Renni; Sugiarto, Sugiarto; Pramanda, Heru
2017-11-01
The inadequate facilities and limited access to public transport reflect many people using private vehicles, in particular, motorcycle. The motorcycle is most widely used in Indonesia, recently, including Aceh Province. As a result, the number of motorcycle ownership is increasing significantly. The increasing number of motorcycles leads to complex traffic problems. Several factors tend to affect the trip generation of the motorcyclist, i.e., the social demographics of individuals and families, accessibility, etc. This study aims to analyze the characteristics of motorcyclists for non-mandatory activities, i.e. activities other than to work and school. It also aims to determine the dominant factors that affect their trips through trip generation models. The required data consist of primary data and secondary data. Primary data consists of a home interview survey that collects individual's daily trips. It is conducted by distributing the questionnaires to 400 families residing in Lhokseumawe City. Modeling the trip generation of the motorcyclist is done by multiple linear regression analysis. Parameters calibration uses OLS (Ordinary Least Square) method. The results showed that the dominant variables that affect the trip generation of motorcyclist for non-mandatory activities are license ownership, housewife, school-age children, middle-income household, and lower education level. It can be concluded that some factors affecting trip generation to non-work activities were female motorcyclists from the middle-income household with lower education level. As their status is mostly as the housewife, escorting children to non-school activities seems to the mother's task, instead of the father. It is clear that, most female ride motorcycle for doing household tasks. However, it should be noted that the use of the motorcycle in long-term does not suit for sustainable transportation.
Meeks, Suzanne; Van Haitsma, Kimberly; Kostiwa, Irene; Murrell, Stanley A
2012-07-01
To explore whether a ratio of positive to negative affect, from the work of Fredricksen and Losada, could predict high levels of well-being in elderly samples and especially in nursing home residents despite multiple chronic health conditions, consonant with Ryff and Singer's notion of "flourishing under fire." We used two samples: a probability sample of community-residing elders and a sample from nursing homes. We calculated ratios of positive to negative affect in each sample and measured well-being with social interaction, mental health, life satisfaction, and general well-being. The positivity ratio of 2.9 differentiated high levels of well-being in both the samples, as in previous research on younger samples. Although we expected the positivity ratio to perform less well among nursing home residents, we found that it differentiated residents with high well-being just as well as in the community sample. The ability to regulate positive affect to maintain a relative ratio of positive over negative affect appears to be an important aspect of successful adjustment in late life. Further research is needed on objective indicators of quality of life and on whether intra-individual shifts in affect balance are coupled with shifts in indicators of positive mental health.
Greenlees, I A; Nunn, R L; Graydon, J K; Maynard, I W
1999-10-01
This study extended research examining Bandura's (1997) proposed model of collective efficacy. Specifically, it examined the relationships between groups' collective efficacy and the precompetitive anxiety and affect they experienced. Prior to a competitive match 66 male Rugby Union footballers from 6 teams (2 university teams and 4 county league teams) completed a single-item measure of confidence in their team winning the forthcoming match, a 10-item measure of confidence in their team performing well in the forthcoming match, the modified Competitive State Anxiety Inventory-2, and the Positive and Negative Affect Schedule. Stepwise (forward) multiple regression analyses indicated that scores for collective efficacy accounted for only 6.3% of the variance in the intensities of cognitive state anxiety and only 22% of the variance in the positive affect experienced prior to the rugby match. The results indicate that concerns with the team's ability to win a match were associated with high cognitive state anxiety and that doubts regarding the team's ability to perform well were related to low positive affect. Given the magnitude of predicted variances, the findings seem to give some support to Bandura's proposal that the beliefs in collective efficacy of individuals engaged in a team task are related to precompetitive affective reactions and the experience of state anxiety.
Stressor diversity: Introduction and empirical integration into the daily stress model.
Koffer, Rachel E; Ram, Nilam; Conroy, David E; Pincus, Aaron L; Almeida, David M
2016-06-01
The present study examined whether and how stressor diversity, the extent to which stressor events are spread across multiple types of stressors, contributes to daily affective well-being through the adult life span. Stressor diversity was examined as a unique predictor of daily affect and as a moderator of stressor exposure and stressor reactivity effects. Analyses span 2 independent studies of daily stress: the National Study of Daily Experiences with N = 2,022 adults, aged 33 to 85 years, assessed over T = 8 days, and the Intraindividual Study of Affect, Health, and Interpersonal Behavior with N = 150 adults, aged 18 to 89 years, assessed over T = 63 days. Across both studies, older age was associated with less stressor diversity. Additionally, multivariate multilevel models indicated higher stressor diversity was linked with better affective well-being. Age, however, was not a consistent moderator of such associations. The combination of low stressor diversity and high stressor exposure is discussed as an operationalization of chronic stressors, and this combination was associated with particularly high negative affect and low positive affect. We believe further work will benefit from including both the frequency and diversity of stressor experiences in analyses in order to better characterize individuals' stressor experiences. (PsycINFO Database Record (c) 2016 APA, all rights reserved).
Van Haitsma, Kimberly; Kostiwa, Irene; Murrell, Stanley A.
2012-01-01
Objectives: To explore whether a ratio of positive to negative affect, from the work of Fredricksen and Losada, could predict high levels of well-being in elderly samples and especially in nursing home residents despite multiple chronic health conditions, consonant with Ryff and Singer's notion of “flourishing under fire.” Method: We used two samples: a probability sample of community-residing elders and a sample from nursing homes. We calculated ratios of positive to negative affect in each sample and measured well-being with social interaction, mental health, life satisfaction, and general well-being. Results: The positivity ratio of 2.9 differentiated high levels of well-being in both the samples, as in previous research on younger samples. Discussion: Although we expected the positivity ratio to perform less well among nursing home residents, we found that it differentiated residents with high well-being just as well as in the community sample. The ability to regulate positive affect to maintain a relative ratio of positive over negative affect appears to be an important aspect of successful adjustment in late life. Further research is needed on objective indicators of quality of life and on whether intra-individual shifts in affect balance are coupled with shifts in indicators of positive mental health. PMID:22227736
Xue, Shifeng; Maluenda, Jérôme; Marguet, Florent; Shboul, Mohammad; Quevarec, Loïc; Bonnard, Carine; Ng, Alvin Yu Jin; Tohari, Sumanty; Tan, Thong Teck; Kong, Mung Kei; Monaghan, Kristin G; Cho, Megan T; Siskind, Carly E; Sampson, Jacinda B; Rocha, Carolina Tesi; Alkazaleh, Fawaz; Gonzales, Marie; Rigonnot, Luc; Whalen, Sandra; Gut, Marta; Gut, Ivo; Bucourt, Martine; Venkatesh, Byrappa; Laquerrière, Annie; Reversade, Bruno; Melki, Judith
2017-04-06
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. Immunolabeling experiments and transmission electron microscopy of the sciatic nerve from one of the affected individuals revealed a lack of myelin. Functional tests using affected individual-derived iPSCs showed that these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and in a cell-based assay impaired the secretion of truncated LGI4 protein. This is consistent with previous studies reporting arthrogryposis in Lgi4-deficient mice due to peripheral hypomyelination. This study adds to the recent reports implicating defective axoglial function as a key cause of AMC. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population.
Bashir, Rasheeda; Sanai, Mahrukh; Azeem, Adnan; Altaf, Imran; Saleem, Faiza; Naz, Sadaf
2014-01-01
To check the contribution of GLC3A locus to primary congenital glaucoma in the Pakistani population. We enrolled twenty-nine sporadic cases and three families with multiple individuals affected with recessive primary congenital glaucoma in the year 2013. It was a genetic linkage study accomplished jointly in Department of Biotechnology of Lahore College for Women University and School of Biological Sciences, University of the Punjab, Lahore. Samples from all affected individuals were checked for homozygosity for alleles of microsatellite markers spanning CYP1B1 at GLC3A locus. Genotyping was performed with fluorescently labeled primers by capillary electrophoresis. For familial cases, linkage was evaluated by checking the co-segregation of the phenotype with the genotypes. Two-point LOD score was calculated for each microsatellite marker with MLINK. Our study revealed that GLCA3 may contribute to glaucoma in 17% of the sporadic cases and patients in 2 of the 3 families. This data suggests that the GLC3A may make an important contribution to autosomal recessive primary congenital glaucoma in the Pakistani population. Genotyping and Sequencing of more families will be helpful to identify the common mutations in CYP1B1 in future.
Sporadic Schwannomatosis: A Systematic Review Following the 2005 Consensus Statement.
Chick, Gregoire; Victor, Jan; Poujade, Thibault; Hollevoet, Nadine
2018-06-14
To identify the frequency of reports of sporadic schwannomatosis, the types of patients affected, and the nerves affected. We identified all case reports and case series that reported on patients with sporadic schwannomatosis according to established criteria. The initial search yielded 1,597 studies, of which 15 were included. A total of 38 of 55 individuals met the inclusion criteria. The mean age of the patients was 48 years; 41% were male. Thirty-three patients had peripheral nerve tumors, and 17 had spinal tumors. Twelve had tumors in both locations. Tumor distribution was unilateral in 25 of 30 cases (83.3%) and segmental (limited to one limb or five or fewer contiguous segments of the spine) in 28 of 38 cases (73.7%). This systematic review quantified the number of individuals who meet the criteria for sporadic schwannomatosis and better described this population to facilitate the classification of neurofibromatosis in regard to the 2005 consensus statement. Unilateral or segmental distribution of nerve tumors are key aspects when dealing with multiple noncutaneous schwannomas without involvement of the vestibular nerve. Georg Thieme Verlag KG Stuttgart · New York.
NASA Astrophysics Data System (ADS)
Moin, Paymann; Ma, Kevin; Amezcua, Lilyana; Gertych, Arkadiusz; Liu, Brent
2009-02-01
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system that affects approximately 2.5 million people worldwide. Magnetic resonance imaging (MRI) is an established tool for the assessment of disease activity, progression and response to treatment. The progression of the disease is variable and requires routine follow-up imaging studies. Currently, MRI quantification of multiple sclerosis requires a manual approach to lesion measurement and yields an estimate of lesion volume and interval change. In the setting of several prior studies and a long treatment history, trends related to treatment change quickly become difficult to extrapolate. Our efforts seek to develop an imaging informatics based MS lesion computer aided detection (CAD) package to quantify and track MS lesions including lesion load, volume, and location. Together, with select clinical parameters, this data will be incorporated into an MS specific e- Folder to provide decision support to evaluate and assess treatment options for MS in a manner tailored specifically to an individual based on trends in MS presentation and progression.
Hartley, J; Cairney, J W; Freestone, P; Woods, C; Meharg, A A
1999-09-01
Experiments were conducted to investigate the effects of single and multiple metal contamination (Cd, Pb, Zn, Sb, Cu) on Scots pine seedlings colonised by ectomycorrhizal (ECM) fungi from natural soil inoculum. Seedlings were grown in either contaminated field soil from the site of a chemical accident, soils amended with five metals contaminating the site, or in soil from an uncontaminated control site. Although contaminated and metal-amended soil significantly inhibited root and shoot growth of the Scots pine seedlings, total root tip density was not affected. Of the five metals tested in amended soils, Cd was the most toxic to ECM Scots pine. Field-contaminated soil had a toxic effect on ECM fungi associated with Scots pine seedlings and caused shifts in ECM species composition on ECM seedlings. When compared to soils amended with only one metal, soils amended with a combination of all five metals tested had lower relative toxicity and less accumulation of Pb, Zn and Sb into seedlings. This would indicate that the toxicity of multiple metal contamination cannot be predicted from the individual toxicity of the metals investigated.
Multiple Levels of Family Factors and Oppositional Defiant Disorder Symptoms Among Chinese Children.
Lin, Xiuyun; Li, Longfeng; Heath, Melissa A; Chi, Peilian; Xu, Shousen; Fang, Xiaoyi
2018-03-01
Family factors are closely associated with child developmental outcomes. This study examined the relationship of oppositional defiant disorder (ODD) symptoms and factors at whole family, dyadic, and individual levels in Chinese children. Participants, who were recruited from 14 primary schools in north, east, and south-west China, included 80 father-child dyads and 169 mother-child dyads. Children in the participating dyads were previously diagnosed with ODD. Results revealed that family cohesion/adaptability was indirectly associated with ODD symptoms via parent-child relationship and child emotion regulation. Parent-child relationship affected ODD symptoms directly and indirectly through child emotion regulation. In addition, the effects of family cohesion/adaptability on parent emotion regulation and child emotion regulation were mediated by the parent-child relationship. The tested model provides a comprehensive framework of how family factors at multiple levels are related to child ODD symptoms and highlights the importance of understanding child emotional and behavioral problems within the family context, more specifically within the multiple levels of family relationships. © 2016 Family Process Institute.
Causal mediation analysis with multiple causally non-ordered mediators.
Taguri, Masataka; Featherstone, John; Cheng, Jing
2018-01-01
In many health studies, researchers are interested in estimating the treatment effects on the outcome around and through an intermediate variable. Such causal mediation analyses aim to understand the mechanisms that explain the treatment effect. Although multiple mediators are often involved in real studies, most of the literature considered mediation analyses with one mediator at a time. In this article, we consider mediation analyses when there are causally non-ordered multiple mediators. Even if the mediators do not affect each other, the sum of two indirect effects through the two mediators considered separately may diverge from the joint natural indirect effect when there are additive interactions between the effects of the two mediators on the outcome. Therefore, we derive an equation for the joint natural indirect effect based on the individual mediation effects and their interactive effect, which helps us understand how the mediation effect works through the two mediators and relative contributions of the mediators and their interaction. We also discuss an extension for three mediators. The proposed method is illustrated using data from a randomized trial on the prevention of dental caries.
Changes of procalcitonin level in multiple trauma patients.
Wojtaszek, Marek; Staśkiewicz, Grzegorz; Torres, Kamil; Jakubowski, Krzysztof; Rácz, Oliver; Cipora, Elżbieta
2014-01-01
Some aspects of the pathophysiology of complications in multiple-trauma patients still remain unclear. Mediators of inflammation have been postulated as playing a key role in being responsible for life threatening complications of multiple trauma patients. The objective of this study was to evaluate the prognostic value of procalcitonin (PCT) level in multiple trauma patients. A prospective study took place including patients with multiple trauma hospitalised in several hospital units. PCT level was measured in blood from 45 patients, aged 18-70 years using enzyme-linked immunoassay. The patients were divided into three groups: group I - individuals with multiple trauma with central nervous system injury; group II - those with multiple trauma without CNS injury; and group III - patients with isolated central nervous system injury. Initial PCT levels were below 0.5 ng mL(-1) regardless of the cause of trauma. In the 24th hour of observation, a statistically significant increase of PCT concentration vs. initial levels was recorded in all groups of patients. Then PCT levels decreased significantly at the 3rd measurement point in all groups, and they remained unchanged until the last measurement. The highest levels of PCT were observed in multiple trauma patients without CNS injury (group II). In this group of patients, a significantly longer duration of surgery in the post-trauma period affected PCT levels. PCT concentrations in patients who died were significantly greater than in survivors. A long lasting elevated concentration of procalcitonin in the post-traumatic period, or its repeated increase, is a good marker of developing complications observed earlier than clinical manifestations.
2013-01-01
Background Natural disasters represent an increasing threat both in terms of incidence and severity as a result of climate change. Although much is known about individual responses to disasters, much less is known about the social and contextual response and how this interacts with individual trajectories in terms of mental health, wellbeing and social connectedness. The 2009 bushfires in Victoria, Australia caused much loss of life, property destruction, and community disturbance. In order to progress future preparedness, response and recovery, it is crucial to measure and understand the impact of disasters at both individual and community levels. Methods/design This study aims to profile the range of mental health, wellbeing and social impacts of the Victorian 2009 bushfires over time using multiple methodologies and involving multiple community partners. A diversity of communities including bushfire affected and unaffected will be involved in the study and will include current and former residents (at the time of the Feb 2009 fires). Participants will be surveyed in 2012, 2014 and, funding permitting, in 2016 to map the predictors and outcomes of mental health, wellbeing and social functioning. Ongoing community visits, as well as interviews and focus group discussions in 2013 and 2014, will provide both contextual information and evidence of changing individual and community experiences in the medium to long term post disaster. The study will include adults, adolescents and children over the age of 5. Discussion Conducting the study over five years and focussing on the role of social networks will provide new insights into the interplay between individual and community factors and their influence on recovery from natural disaster over time. The study findings will thereby expand understanding of long term disaster recovery needs for individuals and communities. PMID:24180339
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.
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
Multiple Group Membership and Well-Being: Is There Always Strength in Numbers?
Sønderlund, Anders L.; Morton, Thomas A.; Ryan, Michelle K.
2017-01-01
A growing body of research points to the value of multiple group memberships for individual well-being. However, much of this work considers group memberships very broadly and in terms of number alone. We conducted two correlational studies exploring how the relationship between multiple group membership and well-being is shaped by (a) the complexity of those groups within the overall self-concept (i.e., social identity complexity: SIC), and (b) the perceived value and visibility of individual group memberships to others (i.e., stigma). Study 1 (N = 112) found a positive relationship between multiple group membership and well-being, but only for individuals high in SIC. This effect was mediated by perceived identity expression and access to social support. Study 2 (N = 104) also found that multiple group memberships indirectly contributed to well-being via perceived identity expression and social support, as well as identity compatibility and perceived social inclusion. But, in this study the relationship between multiple group memberships and well-being outcomes was moderated by the perceived value and visibility of group memberships to others. Specifically, possessing multiple, devalued and visible group memberships compromised well-being relative to multiple valued group memberships, or devalued group memberships that were invisible. Together, these studies suggest that the benefits of multiple group membership depend on factors beyond their number. Specifically, the features of group memberships, individually and in combination, and the way in which these guide self-expression and social action, determine whether these are a benefit or burden for individual well-being. PMID:28680414
NASA Astrophysics Data System (ADS)
Williams, P. L.; Phillips, D. A.; Bowles-Martinez, E.; Masana, E.; Stepancikova, P.
2010-12-01
Terrestrial and airborne LiDAR data, and low altitude aerial photography have been utilized in conjunction with field work to identify and map single and multiple-event stream-offsets along all strands of the San Andreas fault in the Coachella Valley. Goals of the work are characterizing the range of displacements associated with the fault’s prehistoric surface ruptures, evaluating patterns of along-fault displacement, and disclosing processes associated with the prominent Banning-Mission Creek fault junction. Preservation offsets is associated with landscape conditions including: (1) well-confined and widely spaced source streams up-slope of the fault; (2) persistent geomorphic surfaces below the fault; (3) slope directions oriented approximately perpendicular to the fault. Notably, a pair of multiple-event offset sites have been recognized in coarse fan deposits below the Mission Creek fault near 1000 Palms oasis. Each of these sites is associated with a single source drainage oriented approximately perpendicular to the fault, and preserves a record of individual fault displacements affecting the southern portion of the Mission Creek branch of the San Andreas fault. The two sites individually record long (>10 event) slip-per-event histories. Documentation of the sites indicates a prevalence of moderate displacements and a small number of large offsets. This is consistent with evidence developed in systematic mapping of individual and multiple event stream offsets in the area extending 70 km south to Durmid Hill. Challenges to site interpretation include the presence of closely spaced en echelon fault branches and indications of stream avulsion in the area of the modern fault crossing. Conversely, strong bar and swale topography produce high quality offset indicators that can be identified across en echelon branches in most cases. To accomplish the detailed mapping needed to fully recover the complex yet well-preserved geomorphic features under investigation, a program of terrestrial laser scanning (TLS) was conducted at the 1000 Palms oasis stream offset sites. Data products and map interpretations will be presented along with initial applications of the study to characterizing San Andreas fault rupture hazard. Continuing work will seek to more fully populate the dataset of larger offsets, evaluate means to objectively date the larger offsets, and, as completely as possible, to characterize magnitudes of past surface ruptures of the San Andreas fault in the Coachella Valley.
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.
Young, Timothy P; Brown, Madison M; Reibling, Ellen T; Ghassemzadeh, Sassan; Gordon, Dawn M; Phan, Tammy H; Thomas, Tamara L; Brown, Lance
2016-10-01
In 2001, less than 20% of emergency medicine residents had more than $150,000 of educational debt. Our emergency medicine residents anecdotally reported much larger debt loads. Surveys have reported that debt affects career and life choices. Qualitative approaches are well suited to explore how and why such complex phenomena occur. We aim to gain a better understanding of how our emergency medicine residents experience debt. We conducted individual semistructured interviews with emergency medicine residents. We collected self-reported data related to educational debt and asked open-ended questions about debt influence on career choices, personal life, future plans, and financial decisions. We undertook a structured thematic analysis using a qualitative approach based in the grounded theory method. Median educational debt was $212,000. Six themes emerged from our analysis: (1) debt influenced career and life decisions by altering priorities; (2) residents experienced debt as a persistent source of background stress and felt powerless to change it; (3) residents made use of various techniques to negotiate debt in order to focus on day-to-day work; (4) personal debt philosophy, based on individual values and obtained from family, shaped how debt affected each individual; (5) debt had a normative effect and was acculturated in residency; and (6) residents reported a wide range of financial knowledge, but recognized its importance to career success. Our emergency medicine residents' debt experience is complex and involves multiple dimensions. Given our current understanding, simple solutions are unlikely to be effective in adequately addressing this issue. Copyright © 2016 American College of Emergency Physicians. Published by Elsevier Inc. All rights reserved.
Falkauskas, Kaitlin; Kuperman, Victor
2015-11-01
Statistical patterns of language use demonstrably affect language comprehension and language production. This study set out to determine whether the variable amount of exposure to such patterns leads to individual differences in reading behavior as measured via eye-movements. Previous studies have demonstrated that more proficient readers are less influenced by distributional biases in language (e.g., frequency, predictability, transitional probability) than poor readers. We hypothesized that a probabilistic bias that is characteristic of written but not spoken language would preferentially affect readers with greater exposure to printed materials in general and to the specific pattern engendering the bias. Readers of varying reading experience were presented with sentences including English compound words that can occur in 2 spelling formats with differing probabilities: concatenated (windowsill, used 40% of the time) or spaced (window sill, 60%). Linear mixed effects multiple regression models fitted to the eye-movement measures showed that the probabilistic bias toward the presented spelling had a stronger facilitatory effect on compounds that occurred more frequently (in any spelling) or belonged to larger morphological families, and on readers with higher scores on a test of exposure-to-print. Thus, the amount of support toward the compound's spelling is effectively exploited when reading, but only when the spelling patterns are entrenched in an individual's mental lexicon via overall exposure to print and to compounds with alternating spelling. We argue that research on the interplay of language use and structure is incomplete without proper characterization of how particular individuals, with varying levels of experience and skill, learn these language structures. (c) 2015 APA, all rights reserved).
The effect of excluding juveniles on apparent adult olive baboons (Papio anubis) social networks
Fedurek, Piotr; Lehmann, Julia
2017-01-01
In recent years there has been much interest in investigating the social structure of group living animals using social network analysis. Many studies so far have focused on the social networks of adults, often excluding younger, immature group members. This potentially may lead to a biased view of group social structure as multiple recent studies have shown that younger group members can significantly contribute to group structure. As proof of the concept, we address this issue by investigating social network structure with and without juveniles in wild olive baboons (Papio anubis) at Gashaka Gumti National Park, Nigeria. Two social networks including all independently moving individuals (i.e., excluding dependent juveniles) were created based on aggressive and grooming behaviour. We used knockout simulations based on the random removal of individuals from the network in order to investigate to what extent the exclusion of juveniles affects the resulting network structure and our interpretation of age-sex specific social roles. We found that juvenile social patterns differed from those of adults and that the exclusion of juveniles from the network significantly altered the resulting overall network structure. Moreover, the removal of juveniles from the network affected individuals in specific age-sex classes differently: for example, including juveniles in the grooming network increased network centrality of adult females while decreasing centrality of adult males. These results suggest that excluding juveniles from the analysis may not only result in a distorted picture of the overall social structure but also may mask some of the social roles of individuals belonging to different age-sex classes. PMID:28323851
Sukal-Moulton, Theresa; Krosschell, Kristin J; Gaebler-Spira, Deborah J; Dewald, Julius P A
2014-01-01
Extensive neuromotor development occurs early in human life, and the timing of brain injury may affect the resulting motor impairment. In Part I of this series, it was demonstrated that the distribution of weakness in the upper extremity depended on the timing of brain injury in individuals with childhood-onset hemiparesis. The goal of this study was to characterize how timing of brain injury affects joint torque synergies, or losses of independent joint control. Twenty-four individuals with hemiparesis were divided into 3 groups based on the timing of their injury: before birth (PRE-natal, n = 8), around the time of birth (PERI-natal, n = 8), and after 6 months of age (POST-natal, n = 8). Individuals with hemiparesis and 8 typically developing peers participated in maximal isometric shoulder, elbow, wrist, and finger torque generation tasks while their efforts were recorded by a multiple degree-of-freedom load cell. Motor output in 4 joints of the upper extremity was concurrently measured during 8 primary torque generation tasks to quantify joint torque synergies. There were a number of significant coupling patterns identified in individuals with hemiparesis that differed from the typically developing group. POST-natal differences were most noted in the coupling of shoulder abductors with elbow, wrist, and finger flexors, while the PRE-natal group demonstrated significant distal joint coupling with elbow flexion. The torque synergies measured provide indirect evidence for the use of bulbospinal pathways in the POST-natal group, while those with earlier injury may use relatively preserved ipsilateral corticospinal motor pathways.
The effect of excluding juveniles on apparent adult olive baboons (Papio anubis) social networks.
Fedurek, Piotr; Lehmann, Julia
2017-01-01
In recent years there has been much interest in investigating the social structure of group living animals using social network analysis. Many studies so far have focused on the social networks of adults, often excluding younger, immature group members. This potentially may lead to a biased view of group social structure as multiple recent studies have shown that younger group members can significantly contribute to group structure. As proof of the concept, we address this issue by investigating social network structure with and without juveniles in wild olive baboons (Papio anubis) at Gashaka Gumti National Park, Nigeria. Two social networks including all independently moving individuals (i.e., excluding dependent juveniles) were created based on aggressive and grooming behaviour. We used knockout simulations based on the random removal of individuals from the network in order to investigate to what extent the exclusion of juveniles affects the resulting network structure and our interpretation of age-sex specific social roles. We found that juvenile social patterns differed from those of adults and that the exclusion of juveniles from the network significantly altered the resulting overall network structure. Moreover, the removal of juveniles from the network affected individuals in specific age-sex classes differently: for example, including juveniles in the grooming network increased network centrality of adult females while decreasing centrality of adult males. These results suggest that excluding juveniles from the analysis may not only result in a distorted picture of the overall social structure but also may mask some of the social roles of individuals belonging to different age-sex classes.
Early-Life Effects on Adult Physical Activity: Concepts, Relevance, and Experimental Approaches.
Garland, Theodore; Cadney, Marcell D; Waterland, Robert A
Locomotion is a defining characteristic of animal life and plays a crucial role in most behaviors. Locomotion involves physical activity, which can have far-reaching effects on physiology and neurobiology, both acutely and chronically. In human populations and in laboratory rodents, higher levels of physical activity are generally associated with positive health outcomes, although excessive exercise can have adverse consequences. Whether and how such relationships occur in wild animals is unknown. Behavioral variation among individuals arises from genetic and environmental factors and their interactions as well as from developmental programming (persistent effects of early-life environment). Although tremendous progress has been made in identifying genetic and environmental influences on individual differences in behavior, early-life effects are not well understood. Early-life effects can in some cases persist across multiple generations following a single exposure and, in principle, may constrain or facilitate the rate of evolution at multiple levels of biological organization. Understanding the mechanisms of such transgenerational effects (e.g., exposure to stress hormones in utero, inherited epigenetic alterations) may prove crucial to explaining unexpected and/or sex-specific responses to selection as well as limits to adaptation. One area receiving increased attention is early-life effects on adult physical activity. Correlational data from epidemiological studies suggest that early-life nutritional stress can (adversely) affect adult human activity levels and associated physiological traits (e.g., body composition, metabolic health). The few existing studies of laboratory rodents demonstrate that both maternal and early-life exercise can affect adult levels of physical activity and related phenotypes. Going forward, rodents offer many opportunities for experimental studies of (multigenerational) early-life effects, including studies that use maternal exposures and cross-fostering designs.
Saleem, Haneefa T; Surkan, Pamela J; Kerrigan, Deanna; Kennedy, Caitlin E
2016-01-01
Safer conception interventions can significantly reduce the risk of horizontal HIV transmission between HIV-serodiscordant partners. However, prior to implementing safer conception interventions, it is essential to understand potential barriers to their adoption so that strategies can be developed to overcome these barriers. This paper examines potential barriers to the adoption of safer conception strategies by HIV-affected couples in Iringa, Tanzania using an ecological framework. We interviewed 30 HIV-positive women, 30 HIV-positive men and 30 health providers engaged in delivering HIV-related services. We also conducted direct observations at five health facilities. Findings suggest that there are multiple barriers to safer conception that operate at the individual, relational, environmental, structural, and super-structural levels. The barriers to safer conception identified are complex and interact across these levels. Barriers at the individual level included antiretroviral adherence, knowledge of HIV status, knowledge and acceptability of safer conception strategies, and poor nutrition. At the relational level, unplanned pregnancies, non-disclosure of status, gendered power dynamics within relationships, and patient-provider interactions posed a threat to safer conception. HIV stigma and distance to health facilities were environmental barriers to safer conception. At the structural level there were multiple barriers to safer conception, including limited safer conception policy guidelines for people living with HIV (PLHIV), lack of health provider training in safer conception strategies and preconception counseling for PLHIV, limited resources, and lack of integration of HIV and sexual and reproductive health services. Poverty and gender norms were super-structural factors that influenced and reinforced barriers to safer conception, which influenced and operated across different levels of the framework. Multi-level interventions are needed to ensure adoption of safer conception strategies and reduce the risk of HIV transmission between partners within HIV-serodiscordant couples.
Cognitive and Behavioral Outcomes After Early Exposure to Anesthesia and Surgery
Katusic, Slavica K.; Colligan, Robert C.; Wilder, Robert T.; Voigt, Robert G.; Olson, Michael D.; Sprung, Juraj; Weaver, Amy L.; Schroeder, Darrell R.; Warner, David O.
2011-01-01
BACKGROUND: Annually, millions of children are exposed to anesthetic agents that cause apoptotic neurodegeneration in immature animals. To explore the possible significance of these findings in children, we investigated the association between exposure to anesthesia and subsequent (1) learning disabilities (LDs), (2) receipt of an individualized education program for an emotional/behavior disorder (IEP-EBD), and (3) scores of group-administered achievement tests. METHODS: This was a matched cohort study in which children (N = 8548) born between January 1, 1976, and December 31, 1982, in Rochester, Minnesota, were the source of cases and controls. Those exposed to anesthesia (n = 350) before the age of 2 were matched to unexposed controls (n = 700) on the basis of known risk factors for LDs. Multivariable analysis adjusted for the burden of illness, and outcomes including LDs, receipt of an IEP-EBD, and the results of group-administered tests of cognition and achievement were outcomes. RESULTS: Exposure to multiple, but not single, anesthetic/surgery significantly increased the risk of developing LDs (hazard ratio: 2.12 [95% confidence interval: 1.26–3.54]), even when accounting for health status. A similar pattern was observed for decrements in group-administered tests of achievement and cognition. However, exposure did not affect the rate of children receiving an individualized education program. CONCLUSIONS: Repeated exposure to anesthesia and surgery before the age of 2 was a significant independent risk factor for the later development of LDs but not the need for educational interventions related to emotion/behavior. We cannot exclude the possibility that multiple exposures to anesthesia/surgery at an early age may adversely affect human neurodevelopment with lasting consequence. PMID:21969289
Autosomal Linkage Scan for Loci Predisposing to Comorbid Dependence on Multiple Substances
Yang, Bao-Zhu; Han, Shizhong; Kranzler, Henry R.; Farrer, Lindsay A.; Elston, Robert C.; Gelernter, Joel
2014-01-01
Multiple substance dependence (MSD) trait comorbidity is common, and MSD patients are often severely affected clinically. While shared genetic risks have been documented, so far there has been no published report using the linkage scan approach to survey risk loci for MSD as a phenotype. A total of 1,758 individuals in 739 families [384 African American (AA) and 355 European American (EA) families] ascertained via affected sib-pairs with cocaine or opioid or alcohol dependence were genotyped using an array-based linkage panel of single-nucleotide polymorphism markers. Fuzzy clustering analysis was conducted on individuals with alcohol, cannabis, cocaine, opioid, and nicotine dependence for AAs and EAs separately, and linkage scans were conducted for the output membership coefficients using Merlin-regression. In EAs, we observed an autosome-wide significant linkage signal on chromosome 4 (peak lod = 3.31 at 68.3 cM; empirical autosome-wide P = 0.038), and a suggestive linkage signal on chromosome 21 (peak lod = 2.37 at 19.4 cM). In AAs, four suggestive linkage peaks were observed: two peaks on chromosome 10 (lod = 2.66 at 96.7 cM and lod = 3.02 at 147.6 cM] and the other two on chromosomes 3 (lod = 2.81 at 145.5 cM) and 9 (lod = 1.93 at 146.8 cM). Three particularly promising candidate genes, GABRA4, GABRB1, and CLOCK, are located within or very close to the autosome-wide significant linkage region for EAs on chromosome 4. This is the first linkage evidence supporting existence of genetic loci influencing risk for several comorbid disorders simultaneously in two major US populations. PMID:22354695
Verloop, Herman; Dekkers, Olaf M; Peeters, Robin P; Schoones, Jan W; Smit, Johannes W A
2014-09-01
Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation. © 2014 European Society of Endocrinology.
Scheinost, Dustin; Holmes, Sophie E; DellaGioia, Nicole; Schleifer, Charlie; Matuskey, David; Abdallah, Chadi G; Hampson, Michelle; Krystal, John H; Anticevic, Alan; Esterlis, Irina
2018-01-01
Converging evidence suggests that major depressive disorder (MDD) affects multiple large-scale brain networks. Analyses of the correlation or covariance of regional brain structure and function applied to structural and functional MRI data may provide insights into systems-level organization and structure-to-function correlations in the brain in MDD. This study applied tensor-based morphometry and intrinsic connectivity distribution to identify regions of altered volume and intrinsic functional connectivity in data from unmedicated individuals with MDD (n=17) and healthy comparison participants (HC, n=20). These regions were then used as seeds for exploratory anatomical covariance and connectivity analyses. Reduction in volume in the anterior cingulate cortex (ACC) and lower structural covariance between the ACC and the cerebellum were observed in the MDD group. Additionally, individuals with MDD had significantly lower whole-brain intrinsic functional connectivity in the medial prefrontal cortex (mPFC). This mPFC region showed altered connectivity to the ventral lateral PFC (vlPFC) and local circuitry in MDD. Global connectivity in the ACC was negatively correlated with reported depressive symptomatology. The mPFC–vlPFC connectivity was positively correlated with depressive symptoms. Finally, we observed increased structure-to-function correlation in the PFC/ACC in the MDD group. Although across all analysis methods and modalities alterations in the PFC/ACC were a common finding, each modality and method detected alterations in subregions belonging to distinct large-scale brain networks. These exploratory results support the hypothesis that MDD is a systems level disorder affecting multiple brain networks located in the PFC and provide new insights into the pathophysiology of this disorder. PMID:28944772
Riley, Pete; Ben-Nun, Michal; Linker, Jon A.; Cost, Angelia A.; Sanchez, Jose L.; George, Dylan; Bacon, David P.; Riley, Steven
2015-01-01
The potential rapid availability of large-scale clinical episode data during the next influenza pandemic suggests an opportunity for increasing the speed with which novel respiratory pathogens can be characterized. Key intervention decisions will be determined by both the transmissibility of the novel strain (measured by the basic reproductive number R 0) and its individual-level severity. The 2009 pandemic illustrated that estimating individual-level severity, as described by the proportion p C of infections that result in clinical cases, can remain uncertain for a prolonged period of time. Here, we use 50 distinct US military populations during 2009 as a retrospective cohort to test the hypothesis that real-time encounter data combined with disease dynamic models can be used to bridge this uncertainty gap. Effectively, we estimated the total number of infections in multiple early-affected communities using the model and divided that number by the known number of clinical cases. Joint estimates of severity and transmissibility clustered within a relatively small region of parameter space, with 40 of the 50 populations bounded by: p C, 0.0133–0.150 and R 0, 1.09–2.16. These fits were obtained despite widely varying incidence profiles: some with spring waves, some with fall waves and some with both. To illustrate the benefit of specific pairing of rapidly available data and infectious disease models, we simulated a future moderate pandemic strain with p C approximately ×10 that of 2009; the results demonstrating that even before the peak had passed in the first affected population, R 0 and p C could be well estimated. This study provides a clear reference in this two-dimensional space against which future novel respiratory pathogens can be rapidly assessed and compared with previous pandemics. PMID:26402446
Scheinost, Dustin; Holmes, Sophie E; DellaGioia, Nicole; Schleifer, Charlie; Matuskey, David; Abdallah, Chadi G; Hampson, Michelle; Krystal, John H; Anticevic, Alan; Esterlis, Irina
2018-04-01
Converging evidence suggests that major depressive disorder (MDD) affects multiple large-scale brain networks. Analyses of the correlation or covariance of regional brain structure and function applied to structural and functional MRI data may provide insights into systems-level organization and structure-to-function correlations in the brain in MDD. This study applied tensor-based morphometry and intrinsic connectivity distribution to identify regions of altered volume and intrinsic functional connectivity in data from unmedicated individuals with MDD (n=17) and healthy comparison participants (HC, n=20). These regions were then used as seeds for exploratory anatomical covariance and connectivity analyses. Reduction in volume in the anterior cingulate cortex (ACC) and lower structural covariance between the ACC and the cerebellum were observed in the MDD group. Additionally, individuals with MDD had significantly lower whole-brain intrinsic functional connectivity in the medial prefrontal cortex (mPFC). This mPFC region showed altered connectivity to the ventral lateral PFC (vlPFC) and local circuitry in MDD. Global connectivity in the ACC was negatively correlated with reported depressive symptomatology. The mPFC-vlPFC connectivity was positively correlated with depressive symptoms. Finally, we observed increased structure-to-function correlation in the PFC/ACC in the MDD group. Although across all analysis methods and modalities alterations in the PFC/ACC were a common finding, each modality and method detected alterations in subregions belonging to distinct large-scale brain networks. These exploratory results support the hypothesis that MDD is a systems level disorder affecting multiple brain networks located in the PFC and provide new insights into the pathophysiology of this disorder.
Piggott, Jeremy J; Salis, Romana K; Lear, Gavin; Townsend, Colin R; Matthaei, Christoph D
2015-01-01
Lack of knowledge about how the various drivers of global climate change will interact with multiple stressors already affecting ecosystems is the basis for great uncertainty in projections of future biological change. Despite concerns about the impacts of changes in land use, eutrophication and climate warming in running waters, the interactive effects of these stressors on stream periphyton are largely unknown. We manipulated nutrients (simulating agricultural runoff), deposited fine sediment (simulating agricultural erosion) (two levels each) and water temperature (eight levels, 0-6 °C above ambient) simultaneously in 128 streamside mesocosms. Our aim was to determine the individual and combined effects of the three stressors on the algal and bacterial constituents of the periphyton. All three stressors had pervasive individual effects, but in combination frequently produced synergisms at the population level and antagonisms at the community level. Depending on sediment and nutrient conditions, the effect of raised temperature frequently produced contrasting response patterns, with stronger or opposing effects when one or both stressors were augmented. Thus, warming tended to interact negatively with nutrients or sediment by weakening or reversing positive temperature effects or strengthening negative ones. Five classes of algal growth morphology were all affected in complex ways by raised temperature, suggesting that these measures may prove unreliable in biomonitoring programs in a warming climate. The evenness and diversity of the most abundant bacterial taxa increased with temperature at ambient but not with enriched nutrient levels, indicating that warming coupled with nutrient limitation may lead to a more evenly distributed bacterial community as temperatures rise. Freshwater management decisions that seek to avoid or mitigate the negative effects of agricultural land use on stream periphyton should be informed by knowledge of the interactive effects of multiple stressors in a warming climate. © 2014 John Wiley & Sons Ltd.
2016-07-01
Reports an error in "Do positive affectivity and boundary preferences matter for work-family enrichment? A study of human service workers" by Laurel A. McNall, Lindsay D. Scott and Jessica M. Nicklin (Journal of Occupational Health Psychology, 2015[Jan], Vol 20[1], 93-104). In the article there was an error in Figure 1. The lower left bubble should read "Boundary Preference Toward Segmentation" instead of "Boundary Preference Toward Integration." (The following abstract of the original article appeared in record 2014-44477-001.) More individuals than ever are managing work and family roles, but relatively little research has been done exploring whether boundary preferences help individuals benefit from multiple role memberships. Drawing on Greenhaus and Powell's (2006) work-family enrichment theory, along with Boundary Theory (Ashforth, Kreiner, & Fugate, 2000) and Conservation of Resources Theory (Hobfoll, 2002), we explore the impact of personal characteristics as enablers of work-family enrichment, and in turn, work outcomes relevant to human service workers: turnover intentions and emotional exhaustion. In a 2-wave study of 161 human service employees, we found that individuals high in positive affectivity were more likely to experience both work-to-family and family to-work enrichment, whereas those with preferences toward integration were more likely to experience work-to-family enrichment (but not family to-work enrichment). In turn, work-to-family enrichment (but not family to-work enrichment) was related to lower turnover intentions and emotional exhaustion. Enrichment served as a mediating mechanism for only some of the hypothesized relationships. Implications for theory and practice are discussed. (PsycINFO Database Record (c) 2016 APA, all rights reserved).
Slon, Viviane; Stein, Dan; Cohen, Haim; Sella-Tunis, Tatiana; May, Hila; Hershkovitz, Israel
2015-10-01
Vertebral hemangiomas (VHs) are the most common form of benign tumors in the spine. The aim of this research was to study the prevalence of VHs in the human population, their distribution along the spine and their location in the vertebral body. The presence of VHs was assessed in full spine CT scans of 196 adults. Demographic data were gathered from medical records. VHs were present in 26.0% of the individuals studied, a rate significantly higher (χ2=43.338, p<0.001) than the prevalence reported in the literature (10.7%). Multiple VHs (≥2) appeared in 7.2% of the population studied. VHs prevalence is sex-independent, appearing in 28.6% of females and 23.5% of males (χ2=0.663, p=0.416); and age-dependent: the mean age of affected individuals (65.8 years) was significantly higher (p<0.001) than unaffected individuals (56.2 years). VH size was also age-dependent (p=0.023). No vertebra was significantly more prone to be affected by a hemangioma. T11 and T12 show the highest prevalence of VHs (3.57% of vertebrae affected). VHs were found in similar percentages in the anterior and posterior parts of the vertebral body (52.8 vs. 47.2%, respectively); and at its center and periphery (50.1 and 49.9%, respectively). VHs usually appeared at mid-height of the vertebral body or slightly higher. The reported prevalence of VHs is dependent on the demographic structure of the population studied, the size of the VHs and the method used to identify them. Overall, the phenomenon is more frequent than usually reported. VHs may appear at all vertebral levels and in all areas of the vertebral body.
Hajek, André; Bock, Jens-Oliver; König, Hans-Helmut
2017-03-24
Whereas several studies have examined the association between frequent attendance in primary care and illness-specific psychological factors, little is known about the relation between frequent attendance and general psychological factors. Thus, the aim of this study was to investigate the association between being a frequent attender in primary care and general psychological factors. Data were used from a large, population-based sample of community-dwelling individuals aged 40 and above in Germany in 2014 (n = 7,446). Positive and negative affect, life satisfaction, optimism, self-esteem, self-efficacy, and self-regulation were included as general psychological factors. The number of self-reported GP visits in the past twelve months was used to quantify frequency of attendance; individuals with more than 9 visits (highest decile) were defined as frequent attenders. Multiple logistic regressions showed that being a frequent attender was positively associated with less life satisfaction [OR: 0.79 (0.70-0.89)], higher negative affect [OR: 1.38 (1.17-1.62)], less self-efficacy [OR: 0.74 (0.63-0.86)], less self-esteem [OR: 0.65 (0.54-0.79)], less self-regulation [OR: 0.74 (0.60-0.91)], and higher perceived stress [OR: 1.46 (1.28-1.66)], after adjusting for sociodemographic factors, morbidity and lifestyle factors. However, frequent attendance was not significantly associated with positive affect and self-regulation. The present study highlights the association between general psychological factors and frequent attendance. As frequent GP visits produce high health care costs and are potentially associated with increased referrals and use of secondary health care services, this knowledge might help to address these individuals with high needs.
Innes, Josie; Reali, Lisa; Clayton-Smith, Jill; Hall, Georgina; Lim, Derek Hk; Burghel, George J; French, Kim; Khan, Unzela; Walker, Daniel; Lalloo, Fiona; Evans, D Gareth R; McMullan, Dominic; Maher, Eamonn R; Woodward, Emma R
2018-02-01
Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility. In the pilot cohort, 31/3366 (0.92%) individuals had a CNV involving one or more of 16/39 CPGs. 30/31 CNVs involved a tumour suppressor gene (TSG), and 1/30 a proto-oncogene (gain of MET ). BMPR1A , TSC2 and TMEM127 were affected in multiple cases. In the second stage analysis, 49/10 454 (0.47%) individuals in the extended cohort had 50 CNVs involving 24/105 CPGs. 43/50 CNVs involved a TSG and 7/50 a proto-oncogene (4 gains, 3 deletions). The most frequently involved genes, FLCN (n=10) and SDHA (n=7), map to the Smith-Magenis and cri-du-chat regions, respectively. Incidental identification of a CNV involving a CPG is not rare and poses challenges for future cancer risk estimation. Prospective data collection from CPG-CNV cohorts ascertained incidentally and through syndromic presentations is required to determine the risks posed by specific CNVs. In particular, ascertainment and investigation of adults with CPG-CNVs and adults with learning disability and cancer, could provide important information to guide clinical management and surveillance. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
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
A Qualitative Analysis of Acute Skin Toxicity among Breast Cancer Radiotherapy Patients
Schnur, Julie B.; Ouellette, Suzanne C.; DiLorenzo, Terry A.; Green, Sheryl; Montgomery, Guy H.
2013-01-01
Objectives One of the most common acute side effects of breast cancer radiotherapy is treatment induced skin changes, referred to as skin toxicity. Yet no research to date has focused expressly on skin toxicity-related quality of life in breast cancer radiotherapy patients. Therefore, our aim was to use qualitative approaches to better understand the impact of skin toxicity on quality of life. Methods Semi-structured interviews were conducted with 20 women (Stage 0-III breast cancer), during their last week of external beam radiotherapy. Each interview was transcribed verbatim, and thematic analysis was performed. Results Three themes were identified based on the interview responses: First, skin changes affect multiple dimensions of quality of life. They cause physical discomfort, body image disturbance, emotional distress, and impair both day-to-day functioning and satisfaction with radiation treatment. Second, individual differences affect women’s experiences. Generally African-American women, younger women, women who are not currently in a relationship, women who are being treated during the summer, and women who are more invested in their appearance are more distressed by skin toxicity. Third, women use a variety of symptom management strategies including self-medication, complementary/alternative medicine approaches, and psychological strategies. Conclusions Implications of results are: 1) Skin toxicity affects numerous dimensions of quality of life, and assessment approaches and psychosocial interventions should address this; 2) individual differences may affect the experience of skin toxicity, and should be considered in treatment and education approaches; and 3) participants’ own creativity and problem-solving should be used to improve the treatment experience. PMID:20238306
The Community as Classroom: Multiple Perspectives on Student Learning.
ERIC Educational Resources Information Center
Kerrigan, Seanna; Gelmon, Sherrill; Spring, Amy
2003-01-01
Reports on the multiple perspectives of students, community members, and faculty to document the affect of student participation in service-learning courses. The study examined in this article used a large sample size and multiple qualitative and quantitative methods over several years. The results indicate that service learning affects students…
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
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
Griesi-Oliveira, K; Acab, A; Gupta, A R; Sunaga, D Y; Chailangkarn, T; Nicol, X; Nunez, Y; Walker, M F; Murdoch, J D; Sanders, S J; Fernandez, T V; Ji, W; Lifton, R P; Vadasz, E; Dietrich, A; Pradhan, D; Song, H; Ming, G-L; Gu, X; Haddad, G; Marchetto, M C N; Spitzer, N; Passos-Bueno, M R; State, M W; Muotri, A R
2015-11-01
An increasing number of genetic variants have been implicated in autism spectrum disorders (ASDs), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, induced pluripotent stem cell (iPSC)-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with insulin-like growth factor-1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway may benefit from these drugs. We also demonstrate that methyl CpG binding protein-2 (MeCP2) levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells.
Estimating individual glomerular volume in the human kidney: clinical perspectives.
Puelles, Victor G; Zimanyi, Monika A; Samuel, Terence; Hughson, Michael D; Douglas-Denton, Rebecca N; Bertram, John F; Armitage, James A
2012-05-01
Measurement of individual glomerular volumes (IGV) has allowed the identification of drivers of glomerular hypertrophy in subjects without overt renal pathology. This study aims to highlight the relevance of IGV measurements with possible clinical implications and determine how many profiles must be measured in order to achieve stable size distribution estimates. We re-analysed 2250 IGV estimates obtained using the disector/Cavalieri method in 41 African and 34 Caucasian Americans. Pooled IGV analysis of mean and variance was conducted. Monte-Carlo (Jackknife) simulations determined the effect of the number of sampled glomeruli on mean IGV. Lin's concordance coefficient (R(C)), coefficient of variation (CV) and coefficient of error (CE) measured reliability. IGV mean and variance increased with overweight and hypertensive status. Superficial glomeruli were significantly smaller than juxtamedullary glomeruli in all subjects (P < 0.01), by race (P < 0.05) and in obese individuals (P < 0.01). Subjects with multiple chronic kidney disease (CKD) comorbidities showed significant increases in IGV mean and variability. Overall, mean IGV was particularly reliable with nine or more sampled glomeruli (R(C) > 0.95, <5% difference in CV and CE). These observations were not affected by a reduced sample size and did not disrupt the inverse linear correlation between mean IGV and estimated total glomerular number. Multiple comorbidities for CKD are associated with increased IGV mean and variance within subjects, including overweight, obesity and hypertension. Zonal selection and the number of sampled glomeruli do not represent drawbacks for future longitudinal biopsy-based studies of glomerular size and distribution.
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Griesi-Oliveira, Karina; Acab, Allan; Gupta, Abha R.; Sunaga, Daniele Yumi; Chailangkarn, Thanathom; Nicol, Xavier; Nunez, Yanelli; Walker, Michael F.; Murdoch, John D.; Sanders, Stephan J.; Fernandez, Thomas V.; Ji, Weizhen; Lifton, Richard P.; Vadasz, Estevão; Dietrich, Alexander; Pradhan, Dennis; Song, Hongjun; Ming, Guo-li; Guoe, Xiang; Haddad, Gabriel; Marchetto, Maria C. N.; Spitzer, Nicholas; Passos-Bueno, Maria Rita; State, Matthew W.; Muotri, Alysson R.
2014-01-01
An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, iPSC-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology, and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with IGF1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway might benefit from these drugs. We also demonstrate that MeCP2 levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells. PMID:25385366
Kanellopoulos, Alexandros K; Semelidou, Ourania; Kotini, Andriana G; Anezaki, Maria; Skoulakis, Efthimios M C
2012-09-19
Loss of the RNA-binding fragile X protein [fragile X mental retardation protein (FMRP)] results in a spectrum of cognitive deficits, the fragile X syndrome (FXS), while aging individuals with decreased protein levels present with a subset of these symptoms and tremor. The broad range of behavioral deficits likely reflects the ubiquitous distribution and multiple functions of the protein. FMRP loss is expected to affect multiple neuronal proteins and intracellular signaling pathways, whose identity and interactions are essential in understanding and ameliorating FXS symptoms. We used heterozygous mutants and targeted RNA interference-mediated abrogation in Drosophila to uncover molecular pathways affected by FMRP reduction. We present evidence that FMRP loss results in excess metabotropic glutamate receptor (mGluR) activity, attributable at least in part to elevation of the protein in affected neurons. Using high-resolution behavioral, genetic, and biochemical analyses, we present evidence that excess mGluR upon FMRP attenuation is linked to the cAMP decrement reported in patients and models, and underlies olfactory associative learning and memory deficits. Furthermore, our data indicate positive transcriptional regulation of the fly fmr1 gene by cAMP, via protein kinase A, likely through the transcription factor CREB. Because the human Fmr1 gene also contains CREB binding sites, the interaction of mGluR excess and cAMP signaling defects we present suggests novel combinatorial pharmaceutical approaches to symptom amelioration upon FMRP attenuation.
To provide care and be cared for in a multiple-bed hospital room.
Persson, Eva; Määttä, Sylvia
2012-12-01
To illuminate patients' experiences of being cared for and nurses' experiences of caring for patients in a multiple-bed hospital room. Many patients and healthcare personnel seem to prefer single-bed hospital rooms. However, certain advantages of multiple-bed hospital rooms (MBRs) have also been described. Eight men and eight women being cared for in a multiple-bedroom were interviewed, and two focus-group interviews (FGI) with 12 nurses were performed. A qualitative content analysis was used. One theme--Creating a sphere of privacy--and three categories were identified based on the patient interviews. The categories were: Being considerate, Having company and The patients' area. In the FGI, one theme--Integrating individual care with care for all--and two categories emerged: Experiencing a friendly atmosphere and Providing exigent care. Both patients and nurses described the advantages and disadvantages of multiple-bed rooms. The patient culture of taking care of one another and enjoying the company of room-mates were considered positive and gave a sense of security of both patients and nurses. The advantages were slight and could easily become disadvantages if, for example, room-mates were very ill or confused. The patients tried to maintain their privacy and dignity and claimed that there were small problems with room-mates listening to conversations. In contrast, the nurses stressed patient integrity as a main disadvantage and worked to protect the integrity of individual patients. Providing care for all patients simultaneously had the advantage of saving time. The insights gained in the present study could assist nurses in reducing the disadvantages and taking advantage of the positive elements of providing care in MBRs. Health professionals need to be aware of how attitudes towards male and female patients, respectively, could affect care provision. © 2012 The Authors. Scandinavian Journal of Caring Sciences © 2012 Nordic College of Caring Science.
Bruder, Andreas; Salis, Romana K; Jones, Peter E; Matthaei, Christoph D
2017-09-01
Agricultural land use results in multiple stressors affecting stream ecosystems. Flow reduction due to water abstraction, elevated levels of nutrients and chemical contaminants are common agricultural stressors worldwide. Concurrently, stream ecosystems are also increasingly affected by climate change. Interactions among multiple co-occurring stressors result in biological responses that cannot be predicted from single-stressor effects (i.e. synergisms and antagonisms). At the ecosystem level, multiple-stressor effects can be further modified by biotic interactions (e.g. trophic interactions). We conducted a field experiment using 128 flow-through stream mesocosms to examine the individual and combined effects of water abstraction, nutrient enrichment and elevated levels of the nitrification inhibitor dicyandiamide (DCD) on survival, condition and gut content of juvenile brown trout and on benthic abundance of their invertebrate prey. Flow velocity reduction decreased fish survival (-12% compared to controls) and condition (-8% compared to initial condition), whereas effects of nutrient and DCD additions and interactions among these stressors were not significant. Negative effects of flow velocity reduction on fish survival and condition were consistent with effects on fish gut content (-25% compared to controls) and abundance of dominant invertebrate prey (-30% compared to controls), suggesting a negative metabolic balance driving fish mortality and condition decline, which was confirmed by structural equation modelling. Fish mortality under reduced flow velocity increased as maximal daily water temperatures approached the upper limit of their tolerance range, reflecting synergistic interactions between these stressors. Our study highlights the importance of indirect stressor effects such as those transferred through trophic interactions, which need to be considered when assessing and managing fish populations and stream food webs in multiple-stressor situations. However, in real streams, compensatory mechanisms and behavioural responses, as well as seasonal and spatial variation, may alter the intensity of stressor effects and the sensitivity of trout populations. © 2017 John Wiley & Sons Ltd.
Bolormaa, Sunduimijid; Pryce, Jennie E.; Reverter, Antonio; Zhang, Yuandan; Barendse, William; Kemper, Kathryn; Tier, Bruce; Savin, Keith; Hayes, Ben J.; Goddard, Michael E.
2014-01-01
Polymorphisms that affect complex traits or quantitative trait loci (QTL) often affect multiple traits. We describe two novel methods (1) for finding single nucleotide polymorphisms (SNPs) significantly associated with one or more traits using a multi-trait, meta-analysis, and (2) for distinguishing between a single pleiotropic QTL and multiple linked QTL. The meta-analysis uses the effect of each SNP on each of n traits, estimated in single trait genome wide association studies (GWAS). These effects are expressed as a vector of signed t-values (t) and the error covariance matrix of these t values is approximated by the correlation matrix of t-values among the traits calculated across the SNP (V). Consequently, t'V−1t is approximately distributed as a chi-squared with n degrees of freedom. An attractive feature of the meta-analysis is that it uses estimated effects of SNPs from single trait GWAS, so it can be applied to published data where individual records are not available. We demonstrate that the multi-trait method can be used to increase the power (numbers of SNPs validated in an independent population) of GWAS in a beef cattle data set including 10,191 animals genotyped for 729,068 SNPs with 32 traits recorded, including growth and reproduction traits. We can distinguish between a single pleiotropic QTL and multiple linked QTL because multiple SNPs tagging the same QTL show the same pattern of effects across traits. We confirm this finding by demonstrating that when one SNP is included in the statistical model the other SNPs have a non-significant effect. In the beef cattle data set, cluster analysis yielded four groups of QTL with similar patterns of effects across traits within a group. A linear index was used to validate SNPs having effects on multiple traits and to identify additional SNPs belonging to these four groups. PMID:24675618
Identification of NPM and DDX5 as Therapeutic Targets in TSC
2017-12-01
Individuals with TSC develop benign tumors in multiple organs, including the retina, skin, lung, kidney and brain. The identification of valid targets in TSC...individuals. Individuals with TSC develop benign tumors in multiple organs, including the retina, skin, lung, kidney and brain. However, these lesions can
Chacón-Labella, Julia; de la Cruz, Marcelino; Pescador, David S; Escudero, Adrián
2016-04-01
Evaluating community assembly through the use of functional traits is a promising tool for testing predictions arising from Niche and Coexistence theories. Although interactions among neighboring species and their inter-specific differences are known drivers of coexistence with a strong spatial signal, assessing the role of individual species on the functional structure of the community at different spatial scales remains a challenge. Here, we ask whether individual species exert a measurable effect on the spatial organization of different functional traits in local assemblages. We first propose and compute two functions that describe different aspects of functional trait organization around individual species at multiple scales: individual weighted mean area relationship and individual functional diversity area relationship. Secondly, we develop a conceptual model on the relationship and simultaneous variation of these two metrics, providing five alternative scenarios in response to the ability of some target species to modify its neighbor environment and the possible assembly mechanisms involved. Our results show that some species influence the spatial structure of specific functional traits, but their effects were always restricted to the finest spatial scales. In the basis of our conceptual model, the observed patterns point to two main mechanisms driving the functional structure of the community at the fine scale, "biotic" filtering meditated by individual species and resource partitioning driven by indirect facilitation rather than by competitive mechanisms.
Luebbe, Aaron M; Fussner, Lauren M; Kiel, Elizabeth J; Early, Martha C; Bell, Debora J
2013-12-01
Depressive symptomatology is associated with impaired recognition of emotion. Previous investigations have predominantly focused on emotion recognition of static facial expressions neglecting the influence of social interaction and critical contextual factors. In the current study, we investigated how youth and maternal symptoms of depression may be associated with emotion recognition biases during familial interactions across distinct contextual settings. Further, we explored if an individual's current emotional state may account for youth and maternal emotion recognition biases. Mother-adolescent dyads (N = 128) completed measures of depressive symptomatology and participated in three family interactions, each designed to elicit distinct emotions. Mothers and youth completed state affect ratings pertaining to self and other at the conclusion of each interaction task. Using multiple regression, depressive symptoms in both mothers and adolescents were associated with biased recognition of both positive affect (i.e., happy, excited) and negative affect (i.e., sadness, anger, frustration); however, this bias emerged primarily in contexts with a less strong emotional signal. Using actor-partner interdependence models, results suggested that youth's own state affect accounted for depression-related biases in their recognition of maternal affect. State affect did not function similarly in explaining depression-related biases for maternal recognition of adolescent emotion. Together these findings suggest a similar negative bias in emotion recognition associated with depressive symptoms in both adolescents and mothers in real-life situations, albeit potentially driven by different mechanisms.
Cognitive Psychophysiological Substrates of Affective Temperaments.
Poyraz, Burç Çağrı; Sakallı Kani, Ayşe; Aksoy Poyraz, Cana; Öcek Baş, Tuba; Arıkan, Mehmet Kemal
2017-03-01
Affective temperaments are the subclinical manifestations or phenotypes of mood states and hypothetically represent one healthy end of the mood disorder spectrum. However, there is a scarcity of studies investigating the neurobiological basis of affective temperaments. One fundamental aspect of temperament is the behavioral reactivity to environmental stimuli, which can be effectively evaluated by use of cognitive event-related potentials (ERPs) reflecting the diversity of information processing. The aim of the present study is to explore the associations between P300 and the affective temperamental traits in healthy individuals. We recorded the P300 ERP waves using an auditory oddball paradigm in 50 medical student volunteers (23 females, 27 males). Participants' affective temperaments were evaluated using the Temperament Evaluation of Memphis, Pisa, Paris, and San Diego-auto questionnaire version (TEMPS-A). In bivariate analyses, depressive temperament score was significantly correlated with P300 latency ( r s = 0.37, P < .01). In a multiple linear regression analysis, P300 latency showed a significant positive correlation with scores of depressive temperament (β = 0.40, P < .01) and a significant negative one with scores of cyclothymic temperament (β = -0.29, P = .03). Affective temperament scores were not associated with P300 amplitude and reaction times. These results indicate that affective temperaments are related to information processing in the brain. Depressive temperament may be characterized by decreased physiological arousal and slower information processing, while the opposite was observed for cyclothymic temperament.
Design-Comparable Effect Sizes in Multiple Baseline Designs: A General Modeling Framework
ERIC Educational Resources Information Center
Pustejovsky, James E.; Hedges, Larry V.; Shadish, William R.
2014-01-01
In single-case research, the multiple baseline design is a widely used approach for evaluating the effects of interventions on individuals. Multiple baseline designs involve repeated measurement of outcomes over time and the controlled introduction of a treatment at different times for different individuals. This article outlines a general…
Cruickshank, Travis M.; Reyes, Alvaro R.; Ziman, Melanie R.
2015-01-01
Abstract Strength training has, in recent years, been shown to be beneficial for people with Parkinson disease and multiple sclerosis. Consensus regarding its utility for these disorders nevertheless remains contentious among healthcare professionals. Greater clarity is required, especially in regards to the type and magnitude of effects as well as the response differences to strength training between individuals with Parkinson disease or multiple sclerosis. This study examines the effects, magnitude of those effects, and response differences to strength training between patients with Parkinson disease or multiple sclerosis. A comprehensive search of electronic databases including Physiotherapy Evidence Database scale, PubMed, EMBASE, Cochrane Central Register of Controlled Trials, and CINAHL was conducted from inception to July 2014. English articles investigating the effect of strength training for individuals with neurodegenerative disorders were selected. Strength training trials that met the inclusion criteria were found for individuals with Parkinson disease or multiple sclerosis. Individuals with Parkinson disease or multiple sclerosis were included in the study. Strength training interventions included traditional (free weights/machine exercises) and nontraditional programs (eccentric cycling). Included articles were critically appraised using the Physiotherapy Evidence Database scale. Of the 507 articles retrieved, only 20 articles met the inclusion criteria. Of these, 14 were randomized and 6 were nonrandomized controlled articles in Parkinson disease or multiple sclerosis. Six randomized and 2 nonrandomized controlled articles originated from 3 trials and were subsequently pooled for systematic analysis. Strength training was found to significantly improve muscle strength in people with Parkinson disease (15%–83.2%) and multiple sclerosis (4.5%–36%). Significant improvements in mobility (11.4%) and disease progression were also reported in people with Parkinson disease after strength training. Furthermore, significant improvements in fatigue (8.2%), functional capacity (21.5%), quality of life (8.3%), power (17.6%), and electromyography activity (24.4%) were found in individuals with multiple sclerosis after strength training. The limitations of the study were the heterogeneity of interventions and study outcomes in Parkinson disease and multiple sclerosis trials. Strength training is useful for increasing muscle strength in Parkinson disease and to a lesser extent multiple sclerosis. PMID:25634170
Cruickshank, Travis M; Reyes, Alvaro R; Ziman, Melanie R
2015-01-01
Strength training has, in recent years, been shown to be beneficial for people with Parkinson disease and multiple sclerosis. Consensus regarding its utility for these disorders nevertheless remains contentious among healthcare professionals. Greater clarity is required, especially in regards to the type and magnitude of effects as well as the response differences to strength training between individuals with Parkinson disease or multiple sclerosis. This study examines the effects, magnitude of those effects, and response differences to strength training between patients with Parkinson disease or multiple sclerosis. A comprehensive search of electronic databases including Physiotherapy Evidence Database scale, PubMed, EMBASE, Cochrane Central Register of Controlled Trials, and CINAHL was conducted from inception to July 2014. English articles investigating the effect of strength training for individuals with neurodegenerative disorders were selected. Strength training trials that met the inclusion criteria were found for individuals with Parkinson disease or multiple sclerosis. Individuals with Parkinson disease or multiple sclerosis were included in the study. Strength training interventions included traditional (free weights/machine exercises) and nontraditional programs (eccentric cycling). Included articles were critically appraised using the Physiotherapy Evidence Database scale. Of the 507 articles retrieved, only 20 articles met the inclusion criteria. Of these, 14 were randomized and 6 were nonrandomized controlled articles in Parkinson disease or multiple sclerosis. Six randomized and 2 nonrandomized controlled articles originated from 3 trials and were subsequently pooled for systematic analysis. Strength training was found to significantly improve muscle strength in people with Parkinson disease (15%-83.2%) and multiple sclerosis (4.5%-36%). Significant improvements in mobility (11.4%) and disease progression were also reported in people with Parkinson disease after strength training. Furthermore, significant improvements in fatigue (8.2%), functional capacity (21.5%), quality of life (8.3%), power (17.6%), and electromyography activity (24.4%) were found in individuals with multiple sclerosis after strength training. The limitations of the study were the heterogeneity of interventions and study outcomes in Parkinson disease and multiple sclerosis trials. Strength training is useful for increasing muscle strength in Parkinson disease and to a lesser extent multiple sclerosis.
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Sohn, Young Bae; Yim, Shin-Young; Cho, Eun-Hae; Kim, Ok-Hwa
2015-02-01
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Characteristics and correlates of coping with multiple sclerosis: a systematic review.
Keramat Kar, Maryam; Whitehead, Lisa; Smith, Catherine M
2017-10-10
The purpose of this systematic review was to examine coping strategies that people with multiple sclerosis use, and to identify factors that influence their coping pattern. This systematic review followed the Joanna Briggs Institute guidelines for synthesizing descriptive quantitative research. The following databases were searched from the inception of databases until December 2016: Ovid (Medline, Embase, CINAHL, and PsycINFO), Science Direct, Web of Science, and Scopus. Manual search was also conducted from the reference lists of retrieved articles. Findings related to the patterns of coping with multiple sclerosis and factors influencing coping with multiple sclerosis were extracted and synthesized. The search of the database yielded 455 articles. After excluding duplicates (n = 341) and studies that did not meet the inclusion criteria (n = 27), 71 studies were included in the full-text review. Following the full-text, a further 21 studies were excluded. Quality appraisal of 50 studies was completed, and 38 studies were included in the review. Synthesis of findings indicated that people with multiple sclerosis use emotional and avoidance coping strategies more than other types of coping, particularly in the early stages of the disease. In comparison to the general population, people with multiple sclerosis were less likely to use active coping strategies and used more avoidance and emotional coping strategies. The pattern of coping with multiple sclerosis was associated with individual, clinical and psychological factors including gender, educational level, clinical course, mood and mental status, attitude, personality traits, and religious beliefs. The findings of this review suggest that considering individual or disease-related factors could help healthcare professionals in identifying those less likely to adapt to multiple sclerosis. This information could also be used to provide client-centered rehabilitation for people living with multiple sclerosis based on their individual responses and perceptions for coping. Implications for rehabilitation Engagement in coping with multiple sclerosis has been associated with individual factors and neuropsychological functions. Considering individual and disease-related factors would allow healthcare professionals to provide more tailored interventions to maintain and master coping with multiple sclerosis. People living with multiple sclerosis should be empowered to appraise and manage ability to cope based on the contextual evidence (individual and clinical condition). Rehabilitation services should move beyond physical management incorporating behavioral aspects for better functioning in living with multiple sclerosis.
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.
Naddaf, Elie; Waclawik, Andrew J
2015-03-01
Laing distal myopathy is caused by MYH7 gene mutations. Multiple families have been reported with varying patterns of skeletal and cardiac involvement as well as histopathological findings. We report 2 families with p.Glu1508del mutation with detailed electrophysiological and muscle pathology findings. All patients displayed the classic phenotype with weakness starting in the anterior compartment of the legs with a "hanging great toe." It was followed by finger extensors involvement, relatively sparing the extensor indicis proprius, giving the appearance of a "pointing index" finger. All the affected individuals had a dilated cardiomyopathy and core formations on muscle biopsy. Unexpectedly, neurogenic changes were also observed in some individuals. Both families were initially misdiagnosed with either central core disease or hereditary neuropathy. Recognizing the classic phenotype, screening for cardiac involvement that may be clinically silent, and determining the mode of inheritance help with selecting the appropriate genetic test.