Παρασκευή 2 Μαρτίου 2018

Non-linear growth trends of toe flexor muscle strength among children, adolescents, and young adults: a cross-sectional study

Abstract

Purpose

There are only a few studies on the muscular strength of the foot in children and adolescents; thus, the developmental pattern and normative data of these populations during growth are unclear. We sought to elucidate the developmental pattern of the foot muscle strength among children, adolescents, and young adults compared with that of the hand.

Methods

A total of 747 children, adolescents, and young adults participated in this study, and their maximum isometric toe flexor strength (TFS), hand grip strength (HGS), and foot length were measured.

Results

TFS was correlated with HGS (r = 0.785), age (r = 0.659), height (r = 0.757), body mass (r = 0.737), and foot length (r = 0.594). Multiple regression analyses revealed that TFS was correlated with age (β = 0.243 in boys; β = 0.461 in girls), squared value of age (age2; β = − 0.296 in boys; β = − 0.260 in girls), and body mass (β = 0.256 in boys; β = 0.311 in girls) in both sexes, indicating a non-linear relationship between age and TFS development. In a regression model for HGS, age was a significant variable, but not age2. HGS increased linearly from childhood until young adulthood, whereas TFS increased from childhood until adolescence and then levelled off.

Conclusion

Our results demonstrate that TFS has a different developmental pattern compared with HGS.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2oLgXAP
via IFTTT

Lack of age-specific influence on leg blood flow during incremental calf plantar-flexion exercise in men and women

Abstract

Purpose

Age-related exercising leg blood flow (LBF) responses during dynamic knee-extension exercise and forearm blood flow responses during handgrip exercise are preserved in normally active men but attenuated in activity-matched women. We explored whether these age- and sex-specific effects are also apparent during isometric calf plantar-flexion incremental exercise.

Methods

Normally active young men (YM, n = 15, 24 ± 2 years), young women (YW, n = 8, 22 ± 1 years), older men (OM, n = 13, 70 ± 7 years) and older women (OW, n = 10, 64 ± 7 years) were tested. LBF was measured between contractions using venous occlusion plethysmography.

Results

Peak force obtained was higher (P < 0.05) in men compared with women and in young compared with older individuals. However, peak LBF (YM; 971 ± 328 ml min−1, OM; 985 ± 504 ml min−1, YW; 844 ± 366 ml min−1, OW; 960 ± 244 ml min−1) and peak leg vascular conductance [LVC = LBF/(MAP + hydrostatic pressure)] responses (YM; 6.0 ± 1.8 ml min−1 mmHg−1, OM; 5.5 ± 2.8 ml min−1 mmHg−1, YW; 5.3 ± 2.1 ml min−1 mmHg−1, OW; 5.5 ± 1.6 ml min−1 mmHg−1) were similar among the four groups. Furthermore, the hyperaemic (YM; 8.8 ± 3.7 ml min−1 %Fpeak−1 OM; 8.3 ± 5.4 ml min−1 %Fpeak−1, YW; 8.2 ± 3.5 ml min−1 %Fpeak−1, OW; 9.6 ± 2.2 ml min−1 %Fpeak−1) and vasodilatory responses (YM; 0.053 ± 0.020 ml min−1 mmHg−1 %Fpeak−1, OM; 0.048 ± 0.028 ml min−1 mmHg−1 %Fpeak−1, YW; 0.051 ± 0.019 ml min−1 mmHg−1 %Fpeak−1, OW; 0.055 ± 0.014 ml min−1 mmHg−1 %Fpeak−1) were not different among the four groups. These results were accompanied by similar resting LBF responses among groups and were not affected when data were normalised to estimated leg muscle mass.

Conclusions

Our results demonstrate that exercising LBF responses during isometric incremental calf muscle exercise are preserved in older men and women, suggesting that the previously observed age-related attenuations in leg and forearm hyperaemia among women may be muscle-group specific.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2I1LQtu
via IFTTT

Forearm vasodilator responses to environmental stress and reactive hyperaemia are impaired in young South Asian men

Abstract

Purpose

Prevalence of cardiovascular disease (CVD) is greater in South Asians (SAs) than White Europeans (WEs). Endothelial dysfunction and blunted forearm vasodilatation to environmental stressors have been implicated in CVD. We investigated whether these features are present in young SA men.

Methods

In 15 SA and 16 WE men (19–23 years), we compared changes in forearm blood flow, arterial blood pressure (ABP), forearm vascular conductance (FVC), heart rate, and electrodermal resistance (EDR; sweating) following release of arterial occlusion (reactive hyperaemia endothelium-dependent) and 5 single sounds at 5–10 min intervals (stressors).

Results

All were normotensive. Peak reactive hyperaemia was smaller in SAs than WEs (FVC increase: 0.36 ± 0.038 vs 0.44 ± 0.038 units; P < 0.05). Furthermore, in WEs, mean FVC increased at 5, 15, and 20 s of each sound (vasodilatation), but increased at 5 s only in SAs, decreasing by 20 s (vasoconstriction). This reflected a smaller proportion of SAs showing forearm vasodilatation at 15 s (5/15 SAs vs 11/16 WEs: P < 0.01), the remainder showing vasoconstriction. Concomitantly, WEs showed greater bradycardia and EDR changes. Intra-class correlation analyses showed that all responses were highly reproducible over five sounds in both WEs and SAs. Moreover, sound-evoked changes in ABP and FVC were negatively correlated in each ethnicity (P < 0.01). However, WEs showed preponderance of forearm vasodilatation and depressor responses; SAs showed preponderance of vasoconstriction and pressor responses.

Conclusions

Endothelium-dependent vasodilatation is blunted in young SA men. This could explain their impaired forearm vasodilatation and greater pressor responses to repeated environmental stressors, so predisposing SAs to hypertension and CVD.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2oCY2Zo
via IFTTT

Synthesis and Evaluation of 2-[18F]Fluoroethyltriazolesuberohydroxamine Acid for Histone Deacetylase in a Tumor Model as a Positron Emission Tomography Radiotracer

Cancer Biotherapy & Radiopharmaceuticals , Vol. 0, No. 0.


from Mary Ann Liebert, Inc. publishers via xlomafota13 on Inoreader http://ift.tt/2FgPxwJ
via IFTTT

An Updated Subsequent Injury Categorisation Model (SIC-2.0): Data-Driven Categorisation of Subsequent Injuries in Sport

Abstract

Background

Accounting for subsequent injuries is critical for sports injury epidemiology. The subsequent injury categorisation (SIC-1.0) model was developed to create a framework for accurate categorisation of subsequent injuries but its operationalisation has been challenging.

Objectives

The objective of this study was to update the subsequent injury categorisation (SIC-1.0 to SIC-2.0) model to improve its utility and application to sports injury datasets, and to test its applicability to a sports injury dataset.

Methods

The SIC-1.0 model was expanded to include two levels of categorisation describing how previous injuries relate to subsequent events. A data-driven classification level was established containing eight discrete injury categories identifiable without clinical input. A sequential classification level that sub-categorised the data-driven categories according to their level of clinical relatedness has 16 distinct subsequent injury types. Manual and automated SIC-2.0 model categorisation were applied to a prospective injury dataset collected for elite rugby sevens players over a 2-year period. Absolute agreement between the two coding methods was assessed.

Results

An automated script for automatic data-driven categorisation and a flowchart for manual coding were developed for the SIC-2.0 model. The SIC-2.0 model was applied to 246 injuries sustained by 55 players (median four injuries, range 1–12), 46 (83.6%) of whom experienced more than one injury. The majority of subsequent injuries (78.7%) were sustained to a different site and were of a different nature. Absolute agreement between the manual coding and automated statistical script category allocation was 100%.

Conclusions

The updated SIC-2.0 model provides a simple flowchart and automated electronic script to allow both an accurate and efficient method of categorising subsequent injury data in sport.



from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2Fa2WI0
via IFTTT

Confronting Adversity: MCH Responds to ACEs



from Health via xlomafota13 on Inoreader http://ift.tt/2I0XDrS
via IFTTT

Hepatitis C Virus Knowledge Among Pregnant Women with Opioid Use Disorder

Abstract

Objectives To evaluate Hepatitis C virus (HCV) knowledge and awareness among pregnant women with opioid use disorder (OUD). Methods From May through November 2015, a one-time survey was distributed to a convenience sample of pregnant women with OUD to assess their knowledge and awareness of (a) risk factors for HCV infection, (b) HCV transmission prevention strategies, (c) hepatotoxic risk reduction and (d) perinatal transmission and neonatal implications of HCV infection. Chi square and Fisher's exact tests were used to compare demographic characteristics and HCV knowledge between participants who were HCV positive and negative. Results Of 179 pregnant women with OUD approached, 169 (94%) completed the survey. Of these, 153 (90.5%) reported at least one risk factor for HCV infection, 85 (50.3%) were HCV positive and 38 (44.7%) of HCV positive women were diagnosed with HCV for the first time during pregnancy. When HCV knowledge was evaluated, 114 (66.7%) responded that sharing eating utensils could transmit HCV, 69 (55.0%) responded that there is a vaccine to prevent HCV and 56 (32.7%) did not identify intranasal drug use as a risk factor for HCV transmission. Among HCV positive women, 61 (71.8%) associated breastfeeding with an increased risk for HCV transmission, 33 (38.1%) failed to identify the importance of pediatric follow-up for HCV-exposed children and 16 (18.8%) perceived the risk of HCV vertical transmission as "likely" or "very likely." Conclusions for Practice Gaps in HCV knowledge exist among a rapidly growing population of pregnant women with OUD. Healthcare providers have a unique opportunity to provide HCV education and counseling during pregnancy.



from Health via xlomafota13 on Inoreader http://ift.tt/2FciLK5
via IFTTT

Low-Income, African American and American Indian Children’s Viewpoints on Body Image Assessment Tools and Body Satisfaction: A Mixed Methods Study

Abstract

Objectives Pediatric obesity is complicated by many factors including psychological issues, such as body dissatisfaction. Body image assessment tools are used with children to measure their acceptance of their body shape or image. Limited research has been conducted with African American and American Indian children to understand their opinions on assessment tools created. This study investigated: (a) children's perception about body image and (b) differences between two body image instruments among low-income, multi-ethnic children. Methods This study uses mixed methodology including focus groups (qualitative) and body image assessment instruments (quantitative). Fifty-one children participated (25 girls, 26 boys); 53% of children identified as African American and 47% as American Indian. The average age was 10.4 years. Open coding methods were used by identify themes from focus group data. SPSS was used for quantitative analysis. Results Children preferred the Figure Rating Scale (FRS/silhouette) instrument over the Children's Body Image Scale (CBIS/photo) because their body parts and facial features were more detailed. Children formed their body image perception with influence from their parents and the media. Children verbalized that they have experienced negative consequences related to poor body image including disordered eating habits, depression, and bullying. Healthy weight children are also aware of weight-related bullying that obese and overweight children face. Conclusions for Practice Children prefer that the images on a body image assessment tool have detailed facial features and are clothed. Further research into body image assessment tools for use with African American and American Indian children is needed.



from Health via xlomafota13 on Inoreader http://ift.tt/2FKKr9T
via IFTTT

Clinical features and treatment outcomes of langerhans cell histiocytosis of the spine

Langerhans cell histiocytosis (LCH) of the spine is a relatively rare condition with unknown etiology. The diagnosis and treatment protocols for spine LCH remain controversial.

from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2oM7f0L
via IFTTT

Use of motor evoked potentials during lateral lumbar interbody fusion reduces postoperative deficits

Background ContextIntraoperative neurophysiological monitoring (IONM) has gained rather wide-spread acceptance as a method to mitigate risk to the lumbar plexus during Lateral Lumbar Interbody Fusion (LLIF) surgery. The most common approach to IONM involves using only electromyography (EMG) monitoring, and the rate of postoperative deficit remains unacceptably high. Other test modalities, such as transcranial electric motor-evoked potentials (tcMEPs) and somatosensory-evoked potentials (SSEPs), may be more suitable for monitoring neural integrity but they have not been widely adopted during LLIF.

from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/2I0KtuT
via IFTTT

Is the caudate nucleus capable of generating seizures? Evidence from direct intracerebral recordings



from Physiology via xlomafota13 on Inoreader http://ift.tt/2CWgtwt
via IFTTT

Neural Foraminal Lesions: An Imaging Overview



from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2F87475
via IFTTT

Effect on passive range of motion and functional correlates following a long-term lower limb self-stretch program in patients with chronic spastic paresis

In current health systems, long duration stretching, performed daily, cannot be obtained through prescriptions of physical therapy. In addition, the short-term efficacy of the various stretching techniques is disputed and their long-term effects remain undocumented.

from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2oEfdtT
via IFTTT

Salivary Cortisol: Is it Still the Canary in the Coal Mine?

Researchers have long been interested in understanding the biological mechanisms by which stress "gets under the skin" to affect health. One potential mechanism that has received widespread and persistent attention is the hypothalamic-pituitary-adrenal (HPA) axis, a hormonal response system, which can be activated by a broad range of mental and physical stressors. Of all the hormones released by the activation of the HPA axis, cortisol has received the most attention, primarily because of its widespread regulatory influences and the relative ease of measuring it noninvasively in saliva.

from Health via xlomafota13 on Inoreader http://ift.tt/2oMUfrR
via IFTTT

Volunteering Among Older Adults: Life Course Correlates and Consequences

Older adults are one of the United States' most valuable yet arguably unsung resources. A recent study by the Corporation for National Community and Service (2016) documented that more than 21 million adults ages 55 and older contributed more than 3 billion hours of volunteer service to their communities in 2015, with these contributions valued at $77 billion. Formal volunteering is generally defined as unpaid, noncompulsory work done through a formal organization, and that provides benefits to people beyond the volunteer's household. The tasks that older volunteers perform range from collecting and distributing food donations for local food drives and ringing up items at a hospital gift shop, to more specialized tasks like tutoring elementary school students, or providing professional, managerial, and fundraising assistance to nonprofits. Older adults give back to the community to the extent their health allows, and in the process may also enhance their own well-being. Volunteering for formal organizations like Meals on Wheels and Habitat for Humanity, or one's local congregation is just one of myriad ways older adults give back to their communities and families. Older adults also provide direct care to ailing family members, and help with tasks like grocery shopping or caring for grandchildren.

from Health via xlomafota13 on Inoreader http://ift.tt/2I1pMz5
via IFTTT

Planning for the Future of Psychological Research on Aging

The first manuscript I ever submitted was to Journal of Gerontology: Psychological Sciences (but do not look for it on my CV—let us just say it did not ever get published at the journal). I still remember trying to staple all the copies together—this was still during the era of hard-copy manuscript submission. What I remember just as well is that there was no discussion with my advisor/co-author about where we would submit the manuscript first: we had a finding we were excited about, and we sent it to JG:PS.

from Health via xlomafota13 on Inoreader http://ift.tt/2oKSdZj
via IFTTT

Volunteering in the Community: Potential Benefits for Cognitive Aging

Abstract
Objectives
This review aims to advance understanding of the potential benefits of volunteering in the community for older adults' cognitive functioning by taking an in-depth look at the relevant evidence to date.
Method
This review describes the main pathways through which volunteering could plausibly benefit cognitive functioning and critically examines research that has specifically investigated links between volunteering and cognition. Fifteen articles that assessed in adults aged ≥ 55 years the relationship between volunteering (predictor) and cognitive functioning (outcome) were identified via literature database searches.
Results
On balance, evidence from the small number of relevant studies to date supports the idea that volunteering can protect against cognitive aging with respect to global functioning and at least some specific cognitive domains. Studies that used robust designs and assessed domain-specific cognitive functioning produced the largest effect sizes.
Discussion
To help advance the field, this review puts forward recommendations for future research, with an emphasis on the need for robust study designs and specific investigations into the nature and extent of the cognitive benefits of volunteering. Through that work, researchers can determine how a simple and accessible activity like volunteering can best be used to help reduce the burden of age-related cognitive decline.

from Health via xlomafota13 on Inoreader http://ift.tt/2HYOrEH
via IFTTT

Longitudinal Associations Between Formal Volunteering and Cognitive Functioning

Abstract
Objectives
The present study examines the association between formal volunteering and cognitive functioning over time. We also examine the moderating roles of race, sex, education, and time.
Method
Using 11,100 participants aged 51 years and older and nine waves of data from the Health and Retirement Survey, we simultaneously modeled the longitudinal associations between engaging in formal volunteering and changes in cognitive functioning using multilevel models.
Results
Formal volunteering was associated with higher levels of cognitive functioning over time, especially with aspects of cognitive functioning related to working memory and processing. This association was stronger for women than it was for men, and for those with below average levels of education. The positive association between formal volunteering and cognitive functioning weakened over time when cognitive functioning was conceptualized as memory, but strengthened over time when conceptualized as working memory and processing.
Discussion
Volunteering is a productive activity that is beneficial not just to society, but to volunteers' levels of cognitive functioning in older age. For women and those with lower levels of education, formal volunteering appears particularly beneficial to working memory and processing.

from Health via xlomafota13 on Inoreader http://ift.tt/2oKIRg1
via IFTTT

The Relation of Volunteering and Subsequent Changes in Physical Disability in Older Adults

Abstract
Objectives
To describe the association between initiating volunteering and changes in physical disability in older adults, and whether intensity and gender modify this relationship.
Methods
Employing propensity score weighted regression adjustment, we calculate changes in disability using a sample of U.S. adults (n = 7,135) in the Health and Retirement Study (1996–2012) not volunteering at baseline but later initiating volunteering (1–99 hr/year or 100+ hours per year) or remaining a nonvolunteer.
Results
Relative to continuous nonvolunteers, low-intensity volunteering is related to 34% lower disability in the low-intensity group (average treatment effect [ATE] = −0.12) and 63% lower in the higher-intensity group (ATE = −0.23). For men, progression was lower only in the highest intensity group (ATE = +0.02), but women experienced similarly less progression of disability (38%–39%) at either level of new engagement (ATE = −0.17 and −0.18).
Discussion
Initiating a new volunteer role in later life is related to decreased progression of disability, at low or high levels for women and only at higher levels for men. This study suggests that volunteer intervention programs may represent a major public health strategy to delay the progression of physical disability for older adults.

from Health via xlomafota13 on Inoreader http://ift.tt/2HXG6ko
via IFTTT

Does Becoming A Volunteer Attenuate Loneliness Among Recently Widowed Older Adults?

Abstract
Objectives
Loneliness is a significant public health concern, particularly for those who have lost a spouse through widowhood. This study examines whether becoming a volunteer at the time of widowhood is associated with reduction of these risks.
Method
A pooled sample of 5,882 married adults age 51+, drawn from the 2006–2014 waves of the Health and Retirement Study, was used to estimate regression models of the relationship between becoming widowed (relative to staying continuously married) and loneliness, and whether the associated loneliness of having lost a spouse is moderated by starting to volunteer (<2 hr, 2+ hr/week).
Results
Our results show that for those who become widowed, loneliness is significantly higher than those who stay continuously married. However, starting to volunteer 2+ hr per week is related to attenuated loneliness among the widowed such that widows who volunteer at that intensity have levels of loneliness similar to those of continuously married individuals volunteering at the same intensity.
Discussion
This study suggests higher intensity volunteering may be a particularly important pathway for alleviating loneliness among older adults who have recently become widowed. Results are discussed in light of theory, future research, and potential interventions.

from Health via xlomafota13 on Inoreader http://ift.tt/2oM5eSf
via IFTTT

Health Benefits Associated With Three Helping Behaviors: Evidence for Incident Cardiovascular Disease

Abstract
Objective
The purpose of this study was to investigate the association between three helping behaviors and incident cardiovascular disease (CVD; heart attack, stroke; fatal and nonfatal), with an exploration of gender differences. The study is framed within the caregiving system model. Helping others is argued to be an evolved characteristic of humans that yields beneficial health effects.
Methods
Data were taken from the 2004–2014 waves of the Health and Retirement Study. The three forms of helping others considered were formal volunteering, informal helping, and caregiving for a parent or spouse. Cox proportional hazards models were estimated for gender-stratified samples.
Results
Women who volunteered showed a lower risk of incident CVD compared to women who did not volunteer. Men who informally helped others in the community exhibited a lower risk of incident CVD compared to men who did not provide this form of help. Caregiving status was generally not associated with incident CVD for women or men.
Discussion
The results demonstrated that specific types of prosocial behavior may be beneficial for women and men. However, tests for effect differences showed that gender did not moderate the relationships between these helping behaviors and CVD risk.

from Health via xlomafota13 on Inoreader http://ift.tt/2HXG7EY
via IFTTT

Retirement and Socioeconomic Differences in Diurnal Cortisol: Longitudinal Evidence From a Cohort of British Civil Servants

Abstract
Objectives
Early old age and the period around retirement are associated with a widening in socioeconomic inequalities in health. There are few studies that address the stress-biological factors related to this widening. This study examined whether retirement is associated with more advantageous (steeper) diurnal cortisol profiles, and differences in this association by occupational grade.
Method
Data from the 7th (2002–2004), 8th (2006), and 9th (2007–09) phases of the London-based Whitehall II civil servants study were analysed. Thousand hundred and forty three respondents who were employed at phase 8 (mean age 59.9 years) and who had salivary cortisol measured from five samples collected across the day at phases 7 and 9 were analysed.
Results
Retirement was associated with steeper diurnal slopes compared to those who remained in work. Employees in the lowest grades had flatter diurnal cortisol slopes compared to those in the highest grades. Low-grade retirees in particular had flatter diurnal slopes compared to high-grade retirees.
Discussion
Socioeconomic differences in a biomarker associated with stress increase, rather than decrease, around the retirement period. These biological differences associated with transitions into retirement for different occupational groups may partly explain the pattern of widening social inequalities in health in early old age.

from Health via xlomafota13 on Inoreader http://ift.tt/2oM590T
via IFTTT

Association of Anxiety Symptom Clusters with Sleep Quality and Daytime Sleepiness

Abstract
Objectives
To better understand links between anxiety and sleep disturbances in older adults, we examined the association of different phenotypic presentations of anxiety (i.e., affective, cognitive, and somatic clusters) with global sleep quality and daytime sleepiness.
Methods
109 community-dwelling adults aged 66–92 years old (57% female) completed assessments of global sleep quality (Pittsburgh Sleep Quality Index), daytime sleepiness (Epworth Sleepiness Scale), affective anxiety symptoms (Geriatric Anxiety Scale (GAS) affective subscale), cognitive anxiety symptoms (GAS cognitive subscale), and somatic anxiety symptoms (GAS somatic subscale).
Results
In hierarchical regression models adjusted for depressive symptoms and health status, greater affective and somatic anxiety were associated with poorer global sleep quality (affective B = 0.30, p = .01; somatic B = 0.41, p = .01). Somatic and cognitive anxiety were associated with greater daytime sleepiness (somatic B = 0.74, p < .001; cognitive B = 0.30, p = .03), but these associations were attenuated by covariates added to the models.
Discussion
These findings indicate that anxiety symptom clusters are differentially associated with specific sleep-related disturbances, underscoring the complex relationship of late-life anxiety to sleep. Results suggest that personalized treatments, such as targeted sleep interventions, may improve specific anxiety-symptom domains, or vice versa.

from Health via xlomafota13 on Inoreader http://ift.tt/2I0BcDs
via IFTTT

Routine Support to Parents and Stressors in Everyday Domains: Associations With Negative Affect and Cortisol

Abstract
Objectives
Adult children are involved a myriad of roles including providing routine (non-caregiving) support to a parent. Yet we know little about whether providing routine support to a parent is stressful and whether it has any associations with stressors in other life domains.
Methods
We use daily diary data (N = 127; Study Days = 424) from the National Study of Daily Experiences to determine whether providing routine support to an older parent is associated with higher negative affect and salivary cortisol.
Results
Results confirm that providing routine support and experiencing stressors at work were independently associated with negative affect and greater cortisol output. Stress reactions were not amplified, however, on days when adult children concurrently provided support to a parent and reported work stressors. Cutting back usual activities at work or home elevated negative affect but were not associated with an upsurge of cortisol production.
Discussion
Findings lend support to the caregiving career framework for understanding even casual routine assistance provided to a parent.

from Health via xlomafota13 on Inoreader http://ift.tt/2oKVLec
via IFTTT

Extracurricular Involvement in High School and Later-Life Participation in Voluntary Associations

Abstract
Objectives
Scholars have identified participation in voluntary associations as a central component of civic engagement for younger and older people alike. However, there has been little longitudinal examination of how such participation potentially fluctuates across multiple periods of the life course, as well as the extent to which involvement in youth is associated with participation in later life.
Method
We used data from the Wisconsin Longitudinal Study—which is among the oldest and most comprehensive cohort studies in the United States to date. Respondents reported their voluntary association participation periodically between the ages of approximately 36 and 72 years. Data collected from high school yearbooks were used to examine whether histories of extracurricular involvement in adolescence were associated with patterns of voluntary association participation across adulthood.
Results
Results from growth curve models indicated that, on average, voluntary association participation peaked in midlife and declined into the 60s and early 70s. Nevertheless, levels of participation were consistently higher among individuals with greater extracurricular involvement in high school, and the rate of decline in participation from midlife to young-old age was also less steep for these individuals.
Discussion
Findings support conceptualizing voluntary association participation among older adults as part of life course trajectories of participation, with influences originating as early as adolescence.

from Health via xlomafota13 on Inoreader http://ift.tt/2I0IkPR
via IFTTT

Modeling Cortisol Daily Rhythms of Family Caregivers of Individuals With Dementia: Daily Stressors and Adult Day Services Use

Abstract
Objectives
The study examined the typical diurnal cortisol trajectory and its differential associations with an intervention, the adult day services (ADS) use, among a sample of family caregivers who experienced high levels of daily stress.
Method
On hundred and sixty-five caregivers of individuals with dementia completed an 8-day diary on daily stressors, positive events, sleep quality, and ADS use. The caregivers also provided five saliva samples on each diary day. Daily cortisol trajectories were modeled as a function of time elapsed since awakening, and three spline growth curve models were fit to the cortisol data. Based on the best-fitting linear spline model, the effect of daily ADS use was examined at both daily and person levels. Covariates included daily experiences and other caregiving characteristics.
Results
On ADS days, caregivers had a steeper cortisol awakening response (CAR) slope and a steeper morning decline. ADS use remained significant after controlling for covariates at both daily and person levels.
Discussion
The findings suggested potential biophysiological benefits of daily ADS use for a sample that was under chronic stress and high levels of daily stress.

from Health via xlomafota13 on Inoreader http://ift.tt/2oL5GjT
via IFTTT

Daily Sleep Predicting Marital Interactions as Mediated Through Mood

Abstract
Objectives
Sleep problems increase in later life. Studies have linked sleep with marital satisfaction, yet mechanisms, such as mood, have not been explored. The current study is innovative in examining sleep and marital interactions among older couples in a daily context, exploring mood as a potential mediator.
Method
Data were taken from the Life and Family Legacies Daily Experiences Study, involving 191 older couples surveyed across 14 days. Multivariate (dyadic) multilevel models were used to address our research questions.
Results
Findings indicated significant associations between daily sleep hours, sleep quality, and feeling rested with daily marital interactions. These associations were most consistent for wives. Mediation analyses indicated that positive mood was a common mechanism linking sleep with marital interactions. Also, in some cases, spouse sleep and mood reports were associated with partner marital interactions.
Discussion
Improving sleep quality among older couples could lead to better daily marital interactions through changes in mood.

from Health via xlomafota13 on Inoreader http://ift.tt/2I0VegY
via IFTTT

Socioeconomic Status, Race/Ethnicity, and Diurnal Cortisol Trajectories in Middle-Aged and Older Adults

Abstract
Objectives
Slow afternoon cortisol decline may be a marker of aging. We hypothesize that lower socioeconomic status (SES) and African American race are associated with lower waking cortisol and slower afternoon decline.
Method
Six salivary cortisol samples, collected within a 24-hr period from 566 cohort participants aged 56–78 years, were examined in random-effects models. SES measures included socioeconomic vulnerability (household income and assets <500% of poverty) and education (≥college, some college, and ≤high school). African Americans were compared with all others.
Results
Adjusting for age and sex, intermediate, but not low, education was associated with approximately 17% lower average waking cortisol and 1% slower decline, compared with high education. Socioeconomic vulnerability was not associated with waking cortisol or linear decline. Accounting for African American race/ethnicity, socioeconomic vulnerability was associated with a 3% faster decline, and education was not associated with cortisol. African Americans had 26% lower average waking cortisol and 1% slower decline than others.
Discussion
African American race/ethnicity, but not lower SES, was associated with lower waking cortisol and slower afternoon decline in middle-aged and older adults. This pattern is likely a marker of earlier biological aging in vulnerable groups. Race/ethnicity may compete with SES as a measure of cumulative vulnerability.

from Health via xlomafota13 on Inoreader http://ift.tt/2oKIK45
via IFTTT

Hearing and Quality of Life Among Community-Dwelling Older Adults

Abstract
Objectives
Hearing loss is a common health concern in older people, and the prevalence of hearing loss increases with aging. Poor hearing may cause difficulties in everyday life situations and reduce quality of life (QoL). The aim of this study was to assess the associations between different domains of QoL (physical, psychological, social, and environmental), perceived hearing difficulties in various everyday situations, and audiometrically measured hearing level among community-dwelling older adults.
Method
Cross-sectional analysis of 76- to 91-year-old community-dwelling adults. Data on QoL (WHO Quality of Life Assessment short version) and perceived hearing difficulties were gathered via postal questionnaires (n = 706) and screening pure-tone audiometry was performed at the participants' homes for a random subsample (n = 161). Data were analyzed with linear regression models.
Results
Factor analysis on the perceived hearing difficulties questionnaire identified three dimensions: speech hearing, socioemotional effects, and spatial hearing. All the perceived hearing difficulty factors, but not the pure-tone audiometry results, were significantly associated with poorer values in all the QoL domains and the total QoL score.
Discussion
Perceived hearing difficulties in various everyday life situations are more strongly associated with older adults' QoL than audiometrically assessed hearing impairment.

from Health via xlomafota13 on Inoreader http://ift.tt/2I0V49m
via IFTTT

Survival Advantage Mechanism: Inflammation as a Mediator of Positive Self-Perceptions of Aging on Longevity

Abstract
Objective:
Previous studies have found that positive self-perceptions of aging (SPA) are associated with longer survival; however, a biological mechanism was unknown. We examined whether C-reactive protein (CRP), a marker of cumulative stress-related inflammation, mediates the relationship between SPA and survival.
Method:
The SPA of participants aged 50 and older in the Health and Retirement Study (N = 4,149) were assessed at baseline. Inflammation was measured by the level of CRP 4 years later. Survival was followed for up to 6 years.
Results:
As hypothesized, CRP mediated the impact of SPA on survival. Following the steps of a mediation analysis, positive SPA at baseline predicted lower CRP after 4 years (β = −.29, p = .03) and longer survival in the 2 years following the CRP measurement (β = .20, p =.003); additionally, lower CRP predicted longer survival, after adjusting for positive SPA (β = −.02, p = .0001). All models adjusted for baseline age, CRP, health, sex, race, and education.
Discussion:
It was found that lower CRP partially mediates the relationship between positive SPA and longer survival. Hence, this study presents a novel pathway to explain the process by which positive SPA extend longevity.

from Health via xlomafota13 on Inoreader http://ift.tt/2oKVKXG
via IFTTT

Is an Empty Nest Best?: Coresidence With Adult Children and Parental Marital Quality Before and After the Great Recession

Abstract
Objectives
Since the Great Recession, the proportion of young adults living with their parents has risen steadily in the United States. Research on coresidence with adult children and parental marital quality is mixed, but marital quality may suffer if children coreside under certain circumstances. When coresidence signifies a deviation from normative expectations, it may be a source of stress in parents' marriages. Further, living with adult children who are suffering problems may be especially detrimental to parental marital quality.
Method
Middle-aged parents (N = 287; mean age = 50.65) completed measures of marital quality, child problems, and coresidence at 2 time points, at the onset of the Great Recession in 2008 and again in 2013.
Results
Regression analyses estimating marital quality from coresidence status revealed that coresidence with a child was associated with lower parental marital quality in 2008, but not in 2013 (when it may be considered more normative to have adult children living in the home). Additional analyses showed living with a child who was suffering problems was associated with lower marital quality in 2013.
Discussion
These findings suggest that coresidence may be detrimental to marital quality, but perhaps only when coresidence is nonnormative or when coresidence co-occurs with child problems.

from Health via xlomafota13 on Inoreader http://ift.tt/2HYVxZu
via IFTTT

Oral Health—A Neglected Aspect of Subjective Well-Being in Later Life

Abstract
Objectives
This study examined whether oral health is a neglected aspect of subjective well-being (SWB) among older adults. The key research question was whether deterioration in oral health among dentate older adults living in England was associated with decreases in SWB, using measures of eudemonic, evaluative, and affective dimensions of well-being.
Methods
This secondary analysis used data from the third (2006–2007) and fifth (2010–2011) waves of respondents aged 50 and older from the English Longitudinal Study of Ageing (ELSA). We fitted multivariable regression models to examine the effects of changes in oral impacts on daily life and edentulism (complete tooth loss) on SWB (quality of life, life satisfaction, and depressive symptomatology).
Results
A worsening in both oral health measures was associated with an increase in depressive symptoms even after adjusting for time-varying confounders including declining health, activities of daily living, and reduced social support. Becoming edentate was also associated with decreases in quality of life and life satisfaction.
Discussion
A deterioration in oral health and oral health–related quality of life increases the risk of depressive symptoms among older adults and highlights the importance of oral health as a determinant of subjective well-being in later life.

from Health via xlomafota13 on Inoreader http://ift.tt/2oKIC4B
via IFTTT

Decision Support for Joint Replacement: Implications for Decisional Conflict and Willingness to Undergo Surgery

Abstract
Objectives
The present study investigates age differences in the types of decision support that total joint replacement (TJR) candidates desire and receive when making the decision to pursue surgery. We consider the social structural (relationship to the patient) and experiential factors (network members' experience with TJR) that influence individuals' support preferences and the interactions of these factors with age. We also examine whether a lack of support is linked with increased decisional conflict and reduced willingness to undergo surgery.
Method
A telephone survey was conducted with 100 individuals (aged 40+) who were contemplating knee or hip replacement.
Results
TJR candidates desired and received decision support from health care providers, family members, and individuals who had previously undergone TJR. They reported higher deficits in informational and emotional support than in instrumental support. Overall, a lack of instrumental support was associated with greater decisional conflict; a lack of instrumental support and a lack of informational support were associated with reduced willingness to undergo TJR.
Discussion
Our findings point to the importance of involving both formal and informal network members in TJR discussions, and the need for informational guidance and practical assistance to reduce decisional conflict and uncertainty among individuals considering TJR.

from Health via xlomafota13 on Inoreader http://ift.tt/2HYOnEX
via IFTTT

Using a Biopsychosocial Model to Understand Long-term Outcomes in Persons with Burn Injuries

Publication date: Available online 2 March 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Shelley Wiechman, Michael A. Hoyt, David R. Patterson
ObjectiveTo determine the importance of preburn adjustment, injury related variables and selection of coping style on various outcome measures using a biopsychosocial model.DesignLongitudinal. Setting: Outpatient burn clinics. Participants: A total of 231 burn survivors participated in this study as part of a larger burn model system study of 645 patients with major burn injuries.InterventionsN/A/. Main Outcome Measures: The SF-36 was used to assess pre burn adjustment. Other outcome measures entered into the model included the ways of Coping Checklist-revised, the Brief Symptom Inventory, the Beck Depression Inventory-II, the Davidson Trauma Scale.ResultsCorrelational and mediational analysis revealed that preburn emotional health predicted better adjustment at year one and more PTSD symptoms at year two. Better preburn emotional health was also related to less use of avoidant coping strategies, which was also found to be a mediator of the effect of preburn emotional health and PTSD symptoms. Burn injury characteristics were not significantly associated with psychological adjustment at either year one or year two.ConclusionsThe results indicate that there is a complex relation between premorbid mental health and the selection of coping strategies that impact long term adjustment in persons recovering from a burn injury. This relation seems to have more impact on long-term outcome than preburn emotional or physical health alone or the severity of the burn.



from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2HXT2H1
via IFTTT

Quality of life and adaptation in people with spinal cord injury: Response shift effects from one to five years’ post-injury

Publication date: Available online 2 March 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Carolyn E. Schwartz, Brian Stucky, Carly S. Rivers, Vanessa K. Noonan, Joel A. Finkelstein
ObjectiveTo investigate response shift effects in spinal cord injury (SCI) over five years' post-injury.DesignProspective cohort study observed at one-, two- and five-years post-SCI.Setting31 specialized Canadian SCI centersParticipantsSample included 1125, 760, and 219 at one-, two-, and five-years post-SCI.InterventionsNAMain Outcome MeasuresPatient-reported outcomes included the Short-Form 36v2, and the Life Satisfaction-11. Participant latent variable scores were adjusted for: (1) potential attrition bias; and (2) propensity scores reflecting risk of worse outcomes. Oort's Structural Equation Modeling approach for detecting and accounting for response shift effects was used to test the hypothesis that people with SCI would undergo response-shifts over follow-up.ResultsThe study sample was 79% male; 39% were motor/sensory complete (mean age 44.6, sd 18.3). The study data comprised the time after Functional Independence Measure (FIM) scores, an objective measure of motor and cognitive function, had improved and stabilized. Three latent variables (Physical, Mental, and Symptoms) were modeled over time. The response-shift model indicated uniform recalibration and reconceptualization response shift effects over time. When adjusted for these response-shift effects, Physical showed small 'true change' improvements at two- and five-year follow-ups, despite FIM stability.ConclusionsWe detected recalibration and reconceptualization response shift effects in one to five-year follow-up of people with SCI. Despite stable motor and cognitive function, people with SCI are adapting to their condition. This adaptation reflects a progressive disconnection between symptoms and physical or mental health, and a real improvement in the Physical latent variable.



from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2oLlWS2
via IFTTT

On the Reporting of Experimental and Control Therapies in Stroke Rehabilitation Trials: A Systematic Review

Publication date: Available online 2 March 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Keith R. Lohse, Anupriya Pathania, Rebecca Wegman, Lara A. Boyd, Catherine E. Lang
ObjectiveTo use the Centralized Open-Access Rehabilitation database for Stroke to explore reporting of both experimental and control interventions in randomized controlled trials for stroke rehabilitation (including upper and lower extremity therapies).Data SourcesThe Centralized Open-Access Rehabilitation database for Stroke was created from a search of MEDLINE, Embase, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Cumulative Index of Nursing and Allied Health from the earliest available date to May 31, 2014.Study SelectionA total of 2892 titles were reduced to 514 that were screened by full text. This screening left 215 randomized controlled trials in the database (489 independent groups representing 12,847 patients).Data ExtractionUsing a mixture of qualitative and quantitative methods, we performed a text-based analysis of how the procedures of experimental and control therapies were described. Experimental and control groups were rated by 2 independent coders according to the Template for Intervention Description and Replication criteria.Data SynthesisLinear mixed-effects regression with a random effect of study (groups nested within studies) showed that experimental groups had statistically more words in their procedures (mean, 271.8 words) than did control groups (mean, 154.8 words) (P<.001). Experimental groups had statistically more references in their procedures (mean, 1.60 references) than did control groups (mean, .82 references) (P<.001). Experimental groups also scored significantly higher on the total Template for Intervention Description and Replication checklist (mean score, 7.43 points) than did control groups (mean score, 5.23 points) (P<.001).ConclusionsControl treatments in stroke motor rehabilitation trials are underdescribed relative to experimental treatments. These poor descriptions are especially problematic for "conventional" therapy control groups. Poor reporting is a threat to the internal validity and generalizability of clinical trial results. We recommend authors use preregistered protocols and established reporting criteria to improve transparency.



from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2I0BgTy
via IFTTT

Psychophysiological assessment and correction of spatial disorientation during simulated Orion spacecraft re-entry

Publication date: Available online 2 March 2018
Source:International Journal of Psychophysiology
Author(s): Patricia S. Cowings, William B. Toscano, Millard F. Reschke, Addis Tsehay
The National Aeronautics and Space Administration (NASA) has identified a potential risk of spatial disorientation, motion sickness, and degraded performance to astronauts during re-entry and landing of the proposed Orion crew vehicle. The purpose of this study was to determine if a physiological training procedure, Autogenic-Feedback Training Exercise (AFTE), can mitigate these adverse effects. Fourteen men and six women were assigned to two groups (AFTE, no-treatment Control) matched for motion sickness susceptibility and gender. All subjects received a standard rotating chair test to determine motion sickness susceptibility; three training sessions on a manual performance task; and four exposures in the rotating chair (Orion tests) simulating angular accelerations of the crew vehicle during re-entry. AFTE subjects received 2 h of training before Orion tests 2, 3, and 4. Motion sickness symptoms, task performance, and physiological measures were recorded on all subjects. Results showed that the AFTE group had significantly lower symptom scores when compared to Controls on test 2 (p = .05), test 3 (p = .03), and test 4 (p = .02). Although there were no significant group differences on task performance, trends showed that AFTE subjects were less impaired than Controls. Heart rate change scores (20 rpm minus baseline) of AFTE subjects indicated significantly less reactivity on Test 4 compared to Test 1 (10.09 versus 16.59, p = .02), while Controls did not change significantly across tests. Results of this study indicate that AFTE may be an effective countermeasure for mitigating spatial disorientation and motion sickness in astronauts.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2F8tq8y
via IFTTT

Editorial Board

alertIcon.gif

Publication date: March 2018
Source:International Journal of Psychophysiology, Volume 125





from Physiology via xlomafota13 on Inoreader http://ift.tt/2FNwTKE
via IFTTT

Resting beta activation and trait motivation: Neurophysiological markers of motivated motor-action preparation

Publication date: Available online 2 March 2018
Source:International Journal of Psychophysiology
Author(s): A. Hunter Threadgill, Philip A. Gable
Based on Reinforcement Sensitivity Theory (Gray and McNaughton 2000), human behavior is influenced by systems of approach motivation, avoidance motivation, and a third regulatory system presiding over the other two. These systems mediate action and are likely related to neurophysiological markers of motor-action preparation. Previous research has found that lower levels of beta activity over the motor cortex are associated with greater motor-action preparation. The current study sought to test whether trait approach, avoidance, and regulatory control would relate to resting beta activity over the motor cortex, a measure of motor-action preparation. One hundred twenty-eight individuals completed measures of trait behavioral approach motivation and trait behavioral avoidance motivation (BIS/BAS; Carver and White 1994), as well as regulatory control (UPPS-P Impulsive Behaviour Scale; Whiteside et al. 2005). Then, resting EEG was recorded. Greater trait approach was negatively associated with resting beta activity. In contrast, greater trait impulsivity was associated with greater resting beta activity. Lower levels of resting beta activity in the motor cortex appear to be associated with traits related to deliberate motivated motor behaviors. Trait motor-action preparation seems to be an indicator of tendencies towards planful motivated behavior.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2FbmV4E
via IFTTT

Heart rate variability during acute psychosocial stress: A randomized cross-over trial of verbal and non-verbal laboratory stressors

Publication date: Available online 1 March 2018
Source:International Journal of Psychophysiology
Author(s): Agostino Brugnera, Cristina Zarbo, Mika P. Tarvainen, Paolo Marchettini, Roberta Adorni, Angelo Compare
Acute psychosocial stress is typically investigated in laboratory settings using protocols with distinctive characteristics. For example, some tasks involve the action of speaking, which seems to alter Heart Rate Variability (HRV) through acute changes in respiration patterns. However, it is still unknown which task induces the strongest subjective and autonomic stress response.The present cross-over randomized trial sought to investigate the differences in perceived stress and in linear and non-linear analyses of HRV between three different verbal (Speech and Stroop) and non-verbal (Montreal Imaging Stress Task; MIST) stress tasks, in a sample of 60 healthy adults (51.7% females; mean age = 25.6 ± 3.83 years). Analyses were run controlling for respiration rates. Participants reported similar levels of perceived stress across the three tasks. However, MIST induced a stronger cardiovascular response than Speech and Stroop tasks, even after controlling for respiration rates. Finally, women reported higher levels of perceived stress and lower HRV both at rest and in response to acute psychosocial stressors, compared to men.Taken together, our results suggest the presence of gender-related differences during psychophysiological experiments on stress. They also suggest that verbal activity masked the vagal withdrawal through altered respiration patterns imposed by speaking. Therefore, our findings support the use of highly-standardized math task, such as MIST, as a valid and reliable alternative to verbal protocols during laboratory studies on stress.



from Physiology via xlomafota13 on Inoreader http://ift.tt/2FNwB6w
via IFTTT

Genomic Understanding of an Infectious Brain Disease from the Desert

Rhinocladiella mackenziei accounts for the majority of fungal brain infections in the Middle East, and is restricted to the arid climate zone between Saudi Arabia and Pakistan. Neurotropic dissemination caused by this fungus has been reported in immunocompromised, but also immunocompetent individuals. If untreated, the infection is fatal. Outside of humans, the environmental niche of R. mackenziei is unknown, and the fungus has been only cultured from brain biopsies. In this paper, we describe the whole-genome resequencing of two R. mackenziei strains from patients in Saudi Arabia and Qatar. We assessed intraspecies variation and genetic signatures to uncover the genomic basis of the pathogenesis, and potential niche adaptations. We found that the duplicated genes (paralogs) are more susceptible to accumulating significant mutations. Comparative genomics with other filamentous ascomycetes revealed a diverse arsenal of genes likely engaged in pathogenicity, such as the degradation of aromatic compounds and iron acquisition. In addition, intracellular accumulation of trehalose and choline suggests possible adaptations to the conditions of an arid climate region. Specifically, protein family contractions were found, including short-chain dehydrogenase/reductase SDR, the cytochrome P450 (CYP) (E-class), and the G-protein β WD-40 repeat. Gene composition and metabolic potential indicate extremotolerance and hydrocarbon assimilation, suggesting a possible environmental habitat of oil-polluted desert soil.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2oDqD13
via IFTTT

Genome-Wide Screen for New Components of the Drosophila melanogaster Torso Receptor Tyrosine Kinase Pathway

Patterning of the Drosophila embryonic termini by the Torso (Tor) receptor pathway has long served as a valuable paradigm for understanding how receptor tyrosine kinase signaling is controlled. However, the mechanisms that underpin the control of Tor signaling remain to be fully understood. In particular, it is unclear how the Perforin-like protein Torso-like (Tsl) localizes Tor activity to the embryonic termini. To shed light on this, together with other aspects of Tor pathway function, we conducted a genome-wide screen to identify new pathway components that operate downstream of Tsl. Using a set of molecularly defined chromosomal deficiencies, we screened for suppressors of ligand-dependent Tor signaling induced by unrestricted Tsl expression. This approach yielded 59 genomic suppressor regions, 11 of which we mapped to the causative gene, and a further 29 that were mapped to <15 genes. Of the identified genes, six represent previously unknown regulators of embryonic Tor signaling. These include twins (tws), which encodes an integral subunit of the protein phosphatase 2A complex, and α-tubulin at 84B (αTub84B), a major constituent of the microtubule network, suggesting that these may play an important part in terminal patterning. Together, these data comprise a valuable resource for the discovery of new Tor pathway components. Many of these may also be required for other roles of Tor in development, such as in the larval prothoracic gland where Tor signaling controls the initiation of metamorphosis.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2F8XPU4
via IFTTT

Functional Analysis of Cancer-Associated DNA Polymerase {varepsilon} Variants in Saccharomyces cerevisiae

DNA replication fidelity relies on base selectivity of the replicative DNA polymerases, exonucleolytic proofreading, and postreplicative DNA mismatch repair (MMR). Ultramutated human cancers without MMR defects carry alterations in the exonuclease domain of DNA polymerase (Pol). They have been hypothesized to result from defective proofreading. However, modeling of the most common variant, Pol-P286R, in yeast produced an unexpectedly strong mutator effect that exceeded the effect of proofreading deficiency by two orders of magnitude and indicated the involvement of other infidelity factors. The in vivo consequences of many additional Pol mutations reported in cancers remain poorly understood. Here, we genetically characterized 13 cancer-associated Pol variants in the yeast system. Only variants directly altering the DNA binding cleft in the exonuclease domain elevated the mutation rate. Among these, frequently recurring variants were stronger mutators than rare variants, in agreement with the idea that mutator phenotype has a causative role in tumorigenesis. In nearly all cases, the mutator effects exceeded those of an exonuclease-null allele, suggesting that mechanisms distinct from loss of proofreading may drive the genome instability in most ultramutated tumors. All mutator alleles were semidominant, supporting the view that heterozygosity for the polymerase mutations is sufficient for tumor development. In contrast to the DNA binding cleft alterations, peripherally located variants, including a highly recurrent V411L, did not significantly elevate mutagenesis. Finally, the analysis of Pol variants found in MMR-deficient tumors suggested that the majority cause no mutator phenotype alone but some can synergize with MMR deficiency to increase the mutation rate.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2oBvdwq
via IFTTT

An Overexpressed Q Allele Leads to Increased Spike Density and Improved Processing Quality in Common Wheat (Triticum aestivum)

Spike density and processing quality are important traits in modern wheat production and are controlled by multiple gene loci. The associated genes have been intensively studied and new discoveries have been constantly reported during the past few decades. However, no gene playing a significant role in the development of these two traits has been identified. In the current study, a common wheat mutant with extremely compact spikes and good processing quality was isolated and characterized. A new allele (Qc1) of the Q gene (an important domestication gene) responsible for the mutant phenotype was cloned, and the molecular mechanism for the mutant phenotype was studied. Results revealed that Qc1 originated from a point mutation that interferes with the miRNA172-directed cleavage of Q transcripts, leading to its overexpression. It also reduces the longitudinal cell size of rachises, resulting in an increased spike density. Furthermore, Qc1 increases the number of vascular bundles, which suggests a higher efficiency in the transportation of assimilates in the spikes of the mutant than that of wild type. This accounts for the improved processing quality. The effects of Qc1 on spike density and wheat processing quality were confirmed by analyzing nine common wheat mutants possessing four different Qc alleles. These results deepen our understanding of the key roles of Q gene, and provide new insights for the potential application of Qc alleles in wheat quality breeding.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2GY00KO
via IFTTT

Transcriptome Analyses of Mosaic (MSC) Mitochondrial Mutants of Cucumber in a Highly Inbred Nuclear Background

Cucumber (Cucumis sativus L.) has a large, paternally transmitted mitochondrial genome. Cucumber plants regenerated from cell cultures occasionally show paternally transmitted mosaic (MSC) phenotypes, characterized by slower growth, chlorotic patterns on the leaves and fruit, lower fertility, and rearrangements in their mitochondrial DNAs (mtDNAs). MSC lines 3, 12, and 16 originated from different cell cultures all established using the highly inbred, wild-type line B. These MSC lines possess different rearrangements and under-represented regions in their mtDNAs. We completed RNA-seq on normalized and non-normalized cDNA libraries from MSC3, MSC12, and MSC16 to study their nuclear gene-expression profiles relative to inbred B. Results from both libraries indicated that gene expression in MSC12 and MSC16 were more similar to each other than MSC3. Forty-one differentially expressed genes (DEGs) were upregulated and one downregulated in the MSC lines relative to B. Gene functional classifications revealed that more than half of these DEGs are associated with stress-response pathways. Consistent with this observation, we detected elevated levels of hydrogen peroxide throughout leaf tissue in all MSC lines compared to wild-type line B. These results demonstrate that independently produced MSC lines with different mitochondrial polymorphisms show unique and shared nuclear responses. This study revealed genes associated with stress response that could become selection targets to develop cucumber cultivars with increased stress tolerance, and further support of cucumber as a model plant to study nuclear-mitochondrial interactions.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2oCe9GF
via IFTTT

Genome-Wide Characterization of DNA Methylation in an Invasive Lepidopteran Pest, the Cotton Bollworm Helicoverpa armigera

The genes and genomes of insect pests are shaped by the wide array of selective forces encountered in their environments. While the molecular adaptations that evolve are beginning to be understood at the genomic and transcriptomic level, they have been less well characterized at an epigenetic level. Here, we present a genome-wide map of DNA methylation at single-nucleotide resolution for the cotton bollworm moth, Helicoverpa armigera, a globally invasive pest of agriculture. We show that methylation is almost identical in the larvae and adults of H. armigera and that, through whole-genome bisulfite sequencing (WGBS), at the most ~0.9% of CpG sites in this species are methylated. We find that DNA methylation occurs primarily in exons, is positively correlated with gene expression, and that methylated genes are enriched for cellular "housekeeping" roles. H. armigera has an exceptional capacity for long-range migration. To explore the role of methylation in influencing the migratory phenotype of H. armigera, we performed targeted bisulfite sequencing on selected loci from 16 genes that were differentially expressed between adult moths exhibiting distinct flight performance in behavioral assays. While most CpG sites in these genes were not methylated between flight phenotypes, we identified hypermethylation in a demethylase (KDM4) that targets lysine-specific histone modifications, which are strongly associated with transcription and methylation. The H. armigera methylome provides new insights into the role of DNA methylation in a noctuid moth and is a valuable resource for further research into the epigenetic control of adaptive traits in this important pest.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2FaaHJE
via IFTTT

Pleiotropic Functions of the Chromodomain-Containing Protein Hat-trick During Oogenesis in Drosophila melanogaster

Chromatin-remodeling proteins have a profound role in the transcriptional regulation of gene expression during development. Here, we have shown that the chromodomain-containing protein Hat-trick is predominantly expressed within the oocyte nucleus, specifically within the heterochromatinized karyosome, and that a mild expression is observed in follicle cells. Colocalization of Hat-trick with Heterochromatin Protein 1 and synaptonemal complex component C(3)G along with the diffused karyosome after hat-trick downregulation shows the role of this protein in heterochromatin clustering and karyosome maintenance. Germline mosaic analysis reveals that hat-trick is required for maintaining the dorso-ventral patterning of eggs by regulating the expression of Gurken. The increased incidence of double-strand breaks (DSBs), delayed DSB repair, defects in karyosome formation, altered Vasa mobility, and, consequently, misexpression and altered localization of Gurken in hat-trick mutant egg chambers clearly suggest a putative involvement of Hat-trick in the early stages of oogenesis. In addition, based on phenotypic observations in hat-trick mutant egg chambers, we speculate a substantial role of hat-trick in cystoblast proliferation, oocyte determination, nurse cell endoreplication, germ cell positioning, cyst encapsulation, and nurse cell migration. Our results demonstrate that hat-trick has profound pleiotropic functions during oogenesis in Drosophila melanogaster.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2oCGEEr
via IFTTT

Construction of Designer Selectable Marker Deletions with a CRISPR-Cas9 Toolbox in Schizosaccharomyces pombe and New Design of Common Entry Vectors

Vectors encoding selectable markers have been widely used in yeast to maintain or express exogenous DNA fragments. In the fission yeast Schizosaccharomyces pombe, several engineered markers have been reported and widely used, such as ura4+ and ScLEU2 from Saccharomyces cerevisiae, which complement ura4 and leu1 mutations, respectively. These two auxotrophic markers share no homology with the S. pombe genome; however, most others can recombine with the genome due to sequence homology shared between the genomic and plasmid-borne copies of the markers. Here, we describe a CRISPR-Cas9 toolbox that can be used to quickly introduce "designer" auxotrophic marker deletions into host strains, including leu1-0, his3-0, and lys9-0. Together with ura4-D18, this brings the total number of available designer deletion auxotrophic markers to four. The toolbox consists of a Cas9-gRNA expression vector and a donor DNA plasmid pair for each designer deletion. Using this toolbox, a set of auxotrophic S. pombe strains was constructed. Further, we reorganized essential components in the commonly used pREP series of plasmids and assembled the corresponding auxotrophic marker gene onto these plasmids. This toolbox for producing designer deletions, together with the newly developed strains and plasmids, will benefit the whole yeast community.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2GXZc8C
via IFTTT

Improving Genomic Prediction in Cassava Field Experiments by Accounting for Interplot Competition

Plants competing for available resources is an unavoidable phenomenon in a field. We conducted studies in cassava (Manihot esculenta Crantz) in order to understand the pattern of this competition. Taking into account the competitive ability of genotypes while selecting parents for breeding advancement or commercialization can be very useful. We assumed that competition could occur at two levels: (i) the genotypic level, which we call interclonal, and (ii) the plot level irrespective of the type of genotype, which we call interplot competition or competition error. Modification in incidence matrices was applied in order to relate neighboring genotype/plot to the performance of a target genotype/plot with respect to its competitive ability. This was added into a genomic selection (GS) model to simultaneously predict the direct and competitive ability of a genotype. Predictability of the models was tested through a 10-fold cross-validation method repeated five times. The best model was chosen as the one with the lowest prediction root mean squared error (pRMSE) compared to that of the base model having no competitive component. Results from our real data studies indicated that <10% increase in accuracy was achieved with GS-interclonal competition model, but this value reached up to 25% with a GS-competition error model. We also found that the competitive influence of a cassava clone is not just limited to the adjacent neighbors but spreads beyond them. Through simulations, we found that a 26% increase of accuracy in estimating trait genotypic effect can be achieved even in the presence of high competitive variance.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2Fj7w5S
via IFTTT

Multiple Origin but Single Domestication Led to Oryza sativa

The domestication scenario that led to Asian rice (Oryza sativa) is a contentious topic. Here, we have reanalyzed a previously published large-scale wild and domesticated rice data set, which was also analyzed by two studies but resulted in two contrasting domestication models. We suggest that the analysis of false-positive selective sweep regions and phylogenetic analysis of concatenated genomic regions may have been the sources that contributed to the different results. In the end, our result indicates that Asian rice originated from multiple wild progenitor subpopulations; however, de novo domestication appears to have occurred only once and the domestication alleles were transferred between rice subpopulations through introgression.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2CT6MPG
via IFTTT

Genomic Identification and Functional Characterization of Essential Genes in Caenorhabditis elegans

Using combined genetic mapping, Illumina sequencing, bioinformatics analyses, and experimental validation, we identified 60 essential genes from 104 lethal mutations in two genomic regions of Caenorhabditis elegans totaling ~14 Mb on chromosome III(mid) and chromosome V(left). Five of the 60 genes had not previously been shown to have lethal phenotypes by RNA interference depletion. By analyzing the regions around the lethal missense mutations, we identified four putative new protein functional domains. Furthermore, functional characterization of the identified essential genes shows that most are enzymes, including helicases, tRNA synthetases, and kinases in addition to ribosomal proteins. Gene Ontology analysis indicated that essential genes often encode for enzymes that conduct nucleic acid binding activities during fundamental processes, such as intracellular DNA replication, transcription, and translation. Analysis of essential gene shows that they have fewer paralogs, encode proteins that are in protein interaction hubs, and are highly expressed relative to nonessential genes. All these essential gene traits in C. elegans are consistent with those of human disease genes. Most human orthologs (90%) of the essential genes in this study are related to human diseases. Therefore, functional characterization of essential genes underlines their importance as proxies for understanding the biological functions of human disease genes.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2FjPnVA
via IFTTT

Base-Resolution Analysis of DNA Methylation Patterns Downstream of Dnmt3a in Mouse Naive B Cells

The DNA methyltransferase, Dnmt3a, is dynamically regulated throughout mammalian B cell development and upon activation by antigenic stimulation. Dnmt3a inactivation in hematopoietic stem cells has been shown to drive B cell-related malignancies, including chronic lymphocytic leukemia, and associates with specific DNA methylation patterns in transformed cells. However, while it is clear that inactivation of Dnmt3a in hematopoietic stem cells has profound functional effects, the consequences of Dnmt3a inactivation in cells of the B lineage are unclear. To assess whether loss of Dnmt3a at the earliest stages of B cell development lead to DNA methylation defects that might impair function, we selectively inactivated Dnmt3a early in mouse B cell development and then utilized whole genome bisulfite sequencing to generate base-resolution profiles of Dnmt3a+/+ and Dnmt3a–/– naïve splenic B cells. Overall, we find that global methylation patterns are largely consistent between Dnmt3a+/+ and Dnmt3a–/– naïve B cells, indicating a minimal functional effect of DNMT3A in mature B cells. However, loss of Dnmt3a induced 449 focal DNA methylation changes, dominated by loss-of-methylation events. Regions found to be hypomethylated in Dnmt3a–/– naïve splenic B cells were enriched in gene bodies of transcripts expressed in B cells, a fraction of which are implicated in B cell-related disease. Overall, the results from this study suggest that factors other than Dnmt3a are the major drivers for methylome maintenance in B cell development.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2CSdOUP
via IFTTT

The Highly Divergent Mitochondrial Genomes Indicate That the Booklouse, Liposcelis bostrychophila (Psocoptera: Liposcelididae) Is a Cryptic Species

The booklouse, Liposcelis bostrychophila is an important storage pest worldwide. The mitochondrial (mt) genome of an asexual strain (Beibei, China) of the L. bostrychophila comprises two chromosomes; each chromosome contains approximate half of the 37 genes typically found in bilateral animals. The mt genomes of two sexual strains of L. bostrychophila, however, comprise five and seven chromosomes, respectively; each chromosome contains one to six genes. To understand mt genome evolution in L. bostrychophila, and whether L. bostrychophila is a cryptic species, we sequenced the mt genomes of six strains of asexual L. bostrychophila collected from different locations in China, Croatia, and the United States. The mt genomes of all six asexual strains of L. bostrychophila have two chromosomes. Phylogenetic analysis of mt genome sequences divided nine strains of L. bostrychophila into four groups. Each group has a distinct mt genome organization and substantial sequence divergence (48.7–87.4%) from other groups. Furthermore, the seven asexual strains of L. bostrychophila, including the published Beibei strain, are more closely related to two other species of booklice, L. paeta and L. sculptilimacula, than to the sexual strains of L. bostrychophila. Our results revealed highly divergent mt genomes in the booklouse, L. bostrychophila, and indicate that L. bostrychophila is a cryptic species.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2F81KEG
via IFTTT

Unintended Side Effects of Transformation Are Very Rare in Cryptococcus neoformans

Received wisdom in the field of fungal biology holds that the process of editing a genome by transformation and homologous recombination is inherently mutagenic. However, that belief is based on circumstantial evidence. We provide the first direct measurement of the effects of transformation on a fungal genome by sequencing the genomes of 29 transformants and 30 untransformed controls with high coverage. Contrary to the received wisdom, our results show that transformation of DNA segments flanked by long targeting sequences, followed by homologous recombination and selection for a drug marker, is extremely safe. If a transformation deletes a gene, that may create selective pressure for a few compensatory mutations, but even when we deleted a gene, we found fewer than two point mutations per deletion strain, on average. We also tested these strains for changes in gene expression and found only a few genes that were consistently differentially expressed between the wild type and strains modified by genomic insertion of a drug resistance marker. As part of our report, we provide the assembled genome sequence of the commonly used laboratory strain Cryptococcus neoformans var. grubii strain KN99α.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2CSdANt
via IFTTT

The Genomes of Four Meyerozyma caribbica Isolates and Novel Insights into the Meyerozyma guilliermondii Species Complex

Yeasts of the Meyerozyma guilliermondii species complex are widespread in nature and can be isolated from a variety of sources, from the environment to arthropods to hospital patients. To date, the species complex comprises the thoroughly studied and versatile M. guilliermondii, the hard to distinguish M. caribbica, and Candida carpophila. Here we report the whole genome sequencing and de novo assembly of four M. caribbica isolates, identified with the most recent molecular techniques, derived from four Diptera species. The four novel assemblies present reduced fragmentation and comparable metrics (genome size, gene content) to the available genomes belonging to the species complex. We performed a phylogenomic analysis comprising all known members of the species complex, to investigate evolutionary relationships within this clade. Our results show a compact phylogenetic structure for the complex and indicate the presence of a sizable core set of genes. Furthermore, M. caribbica, despite a broad literature on the difficulties of discerning it from M. guilliermondii, seems to be more closely related to C. carpophila. Finally, we believe that there is evidence for considering these four genomes to be the first published for the species M. caribbica. Raw reads and assembled contigs have been made public to further the study of these organisms.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2F8BY3u
via IFTTT

Comparison of Various Nuclear Localization Signal-Fused Cas9 Proteins and Cas9 mRNA for Genome Editing in Zebrafish

The clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system has been proven to be an efficient and precise genome editing technology in various organisms. However, the gene editing efficiencies of Cas9 proteins with a nuclear localization signal (NLS) fused to different termini and Cas9 mRNA have not been systematically compared. Here, we compared the ability of Cas9 proteins with NLS fused to the N-, C-, or both the N- and C-termini and N-NLS-Cas9-NLS-C mRNA to target two sites in the tyr gene and two sites in the gol gene related to pigmentation in zebrafish. Phenotypic analysis revealed that all types of Cas9 led to hypopigmentation in similar proportions of injected embryos. Genome analysis by T7 Endonuclease I (T7E1) assays demonstrated that all types of Cas9 similarly induced mutagenesis in four target sites. Sequencing results further confirmed that a high frequency of indels occurred in the target sites (tyr1 > 66%, tyr2 > 73%, gol1 > 50%, and gol2 > 35%), as well as various types (more than six) of indel mutations observed in all four types of Cas9-injected embryos. Furthermore, all types of Cas9 showed efficient targeted mutagenesis on multiplex genome editing, resulting in multiple phenotypes simultaneously. Collectively, we conclude that various NLS-fused Cas9 proteins and Cas9 mRNAs have similar genome editing efficiencies on targeting single or multiple genes, suggesting that the efficiency of CRISPR/Cas9 genome editing is highly dependent on guide RNAs (gRNAs) and gene loci. These findings may help to simplify the selection of Cas9 for gene editing using the CRISPR/Cas9 system.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2CSdmpB
via IFTTT

Identification and Validation of a New Source of Low Grain Cadmium Accumulation in Durum Wheat

Cadmium (Cd) is a heavy metal that has no known biological function and is toxic for many living organisms. The maximum level of Cd concentration allowed in the international market for wheat grain is 0.2 mg kg–1. Because phenotyping for Cd uptake is expensive and time consuming, molecular markers associated with genes conferring low Cd uptake would expedite selection and lead to the development of durum cultivars with reduced Cd concentrations. Here, we identified single nucleotide polymorphisms (SNPs) associated with a novel low Cd uptake locus in the durum experimental line D041735, which has hexaploid common wheat in its pedigree. Genetic analysis revealed a single major QTL for Cd uptake on chromosome arm 5BL within a 0.3 cM interval flanked by SNP markers. Analysis of the intervening sequence revealed a gene with homology to an aluminum-induced protein as a candidate gene. Validation and allelism tests revealed that the low Cd uptake gene identified in this study is different from the closely linked Cdu1-B gene, which also resides on 5BL. This study therefore showed that the durum experimental line D041735 contains a novel low Cd uptake gene that was likely acquired from hexaploid wheat.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2F6HWSf
via IFTTT

The ABC Transporter Eato Promotes Cell Clearance in the Drosophila melanogaster Ovary

The clearance of dead cells is a fundamental process in the maintenance of tissue homeostasis. Genetic studies in Drosophila melanogaster, Caenorhabditis elegans, and mammals have identified two evolutionarily conserved signaling pathways that act redundantly to regulate this engulfment process: the ced-1/-6/-7 and ced-2/-5/-12 pathways. Of these engulfment genes, only the ced-7/ABCA1 ortholog remains to be identified in D. melanogaster. Homology searches have revealed a family of putative ced-7/ABCA1 homologs encoding ATP-binding cassette (ABC) transporters in D. melanogaster. To determine which of these genes functions similarly to ced-7/ABCA1, we analyzed mutants for engulfment phenotypes in oogenesis, during which nurse cells (NCs) in each egg chamber undergo programmed cell death (PCD) and are removed by neighboring phagocytic follicle cells (FCs). Our genetic analyses indicate that one of the ABC transporter genes, which we have named Eato (Engulfment ABC Transporter in the ovary), is required for NC clearance in the ovary and acts in the same pathways as drpr, the ced-1 ortholog, and in parallel to Ced-12 in the FCs. Additionally, we show that Eato acts in the FCs to promote accumulation of the transmembrane receptor Drpr, and promote membrane extensions around the NCs for their clearance. Since ABCA class transporters, such as CED-7 and ABCA1, are known to be involved in lipid trafficking, we propose that Eato acts to transport membrane material to the growing phagocytic cup for cell corpse clearance. Our work presented here identifies Eato as the ced-7/ABCA1 ortholog in D. melanogaster, and demonstrates a role for Eato in Drpr accumulation and phagocytic membrane extensions during NC clearance in the ovary.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2CSP2nA
via IFTTT

Genetic Diversity, Molecular Phylogeny, and Selection Evidence of Jinchuan Yak Revealed by Whole-Genome Resequencing

Jinchuan yak, a newly discovered yak breed, not only possesses a large proportion of multi-ribs but also exhibits many good characteristics, such as high meat production, milk yield, and reproductive performance. However, there is limited information about its overall genetic structure, relationship with yaks in other areas, and possible origins and evolutionary processes. In this study, 7,693,689 high-quality single-nucleotide polymorphisms were identified by resequencing the genome of Jinchuan yak. Principal component and population genetic structure analyses showed that Jinchuan yak could be distinguished as an independent population among the domestic yak population. Linkage disequilibrium analysis showed that the decay rate of Jinchuan yak was the lowest of the domestic yak breeds, indicating that the degree of domestication and selection intensity of Jinchuan yak were higher than those of other yak breeds. Combined with archaeological data, we speculated that the origin of domestication of Jinchuan yak was ~6000 yr ago (4000–10,000 yr ago). The quantitative dynamics of population growth history in Jinchuan yak was similar to that of other breeds of domestic and wild yaks, but was closer to that of the wild yak. No significant gene exchange between Jinchuan and other domestic yaks occurred. Compared with other domestic yaks, Jinchuan yak possessed 339 significantly and positively selected genes, several of which relate to physiological rhythm, histones, and the breed's excellent production characteristics. Our results provide a basis for the discovery of the evolution, molecular origin, and unique traits of Jinchuan yak.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2F64XVn
via IFTTT

Tools Allowing Independent Visualization and Genetic Manipulation of Drosophila melanogaster Macrophages and Surrounding Tissues

Drosophila melanogaster plasmatocytes, the phagocytic cells among hemocytes, are essential for immune responses, but also play key roles from early development to death through their interactions with other cell types. They regulate homeostasis and signaling during development, stem cell proliferation, metabolism, cancer, wound responses, and aging, displaying intriguing molecular and functional conservation with vertebrate macrophages. Given the relative ease of genetics in Drosophila compared to vertebrates, tools permitting visualization and genetic manipulation of plasmatocytes and surrounding tissues independently at all stages would greatly aid a fuller understanding of these processes, but are lacking. Here, we describe a comprehensive set of transgenic lines that allow this. These include extremely brightly fluorescing mCherry-based lines that allow GAL4-independent visualization of plasmatocyte nuclei, the cytoplasm, or the actin cytoskeleton from embryonic stage 8 through adulthood in both live and fixed samples even as heterozygotes, greatly facilitating screening. These lines allow live visualization and tracking of embryonic plasmatocytes, as well as larval plasmatocytes residing at the body wall or flowing with the surrounding hemolymph. With confocal imaging, interactions of plasmatocytes and inner tissues can be seen in live or fixed embryos, larvae, and adults. They permit efficient GAL4-independent Fluorescence-Activated Cell Sorting (FACS) analysis/sorting of plasmatocytes throughout life. To facilitate genetic studies of reciprocal signaling, we have also made a plasmatocyte-expressing QF2 line that, in combination with extant GAL4 drivers, allows independent genetic manipulation of both plasmatocytes and surrounding tissues, and GAL80 lines that block GAL4 drivers from affecting plasmatocytes, all of which function from the early embryo to the adult.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2CUfa16
via IFTTT

Pilot testing of the spring operated wearable enhancer for arm rehabilitation (SpringWear)

Robotic devices for neurorehabilitation of movement impairments in persons with stroke have been studied extensively. However, the vast majority of these devices only allow practice of stereotyped components o...

from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/2t68uNQ
via IFTTT

Examination of Child and Adolescent Hospital Admission Rates in Queensland, Australia, 1995–2011: A Comparison of Coal Seam Gas, Coal Mining, and Rural Areas

Abstract

Objectives At present, coal seam gas (CSG) is the most common form of unconventional natural gas development occurring in Australia. Few studies have been conducted to explore the potential health impacts of CSG development on children and adolescents. This analysis presents age-specific hospitalisation rates for a child and adolescent cohort in three study areas in Queensland. Methods Three geographic areas were selected: a CSG area, a coal mining area, and a rural area with no mining activity. Changes in area-specific hospital admissions were investigated over the period 1995–2011 in a series of negative binomial regression analyses for 19 International Classification of Diseases (ICD) chapters, adjusting for sociodemographic factors. Results The strongest associations were found for respiratory diseases in 0–4 year olds (7% increase [95% CI 4%, 11%] and 6% increase [95% CI 2%, 10%] in the CSG area relative to the coal mining and rural areas, respectively) and 10–14 year olds (9% increase [95% CI 1%, 18%] and 11% increase [95% CI 1%, 21%] in the CSG area compared to the coal mining and rural areas, respectively). The largest effect size was for blood/immune diseases in 5–9 year olds in the CSG area (467% increase [95% CI 139%, 1244%]) compared to the rural area with no mining activity. Conclusions for Practice Higher rates of hospitalisation existed in the CSG area for certain ICD chapters and paediatric age groups, suggesting potential age-specific health impacts. This study provides insights on associations that should be explored further in terms of child and adolescent health.



from Health via xlomafota13 on Inoreader http://ift.tt/2oCOAFH
via IFTTT

Asymmetries, heterosis, and phenotypic profiles of red junglefowl, White Plymouth Rocks, and F 1 and F 2 reciprocal crosses

Abstract

During the domestication of farm animals, humans have manipulated genetic variation for growth and reproduction through artificial selection. Here, data are presented for growth, reproductive, and behavior traits for the red junglefowl, a line of White Plymouth Rock chickens, and their F1 and F2 reciprocal crosses. Intra- and intergenerational comparisons for growth related traits reflected considerable additive genetic variation. In contrast, those traits associated with reproduction exhibited heterosis. The role of sexual selection was seen in the evolution of prominent secondary sexual ornaments that lend to female choice and male-male competition. The large differences between parental lines in fearfulness to humans were only mitigated slightly in the intercross generations. Whereas, overall F1 generation heterosis was not transferred to the F2, there was developmental stability in the F2, as measured by relative asymmetry of bilateral traits. Through multigenerational analyses between the red junglefowl and the domestic White Plymouth Rocks, we observed plasticity and considerable residual genetic variation. These factors likely facilitated the adaptability of the chicken to a broad range of husbandry practices throughout the world.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2t4Xj80
via IFTTT

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma

Thumbnail image of graphical abstract

Ataxia-oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive neurologic disorder. The phenotype is characterized by ataxia, oculomotor apraxia, peripheral neuropathy and dystonia. AOA4 is caused by biallelic pathogenic variants in the PNKP gene encoding a polynucleotide kinase 3′-phosphatase with an important function in DNA-damage repair.

By whole exome sequencing, we identified 2 variants within the PNKP gene in a 27-year-old German woman with a clinical AOA phenotype combined with a cerebellar pilocytic astrocytoma diagnosed at 23 years of age. One variant, a duplication in exon 14 resulting in the frameshift c.1253_1269dup p.(Thr424fs*49), has previously been described as pathogenic, for example, in cases of AOA4.

The second variant, representing a nonsense mutation in exon 17, c.1545C>G p.(Tyr515*), has not yet been described and is predicted to cause a loss of the 7 C-terminal amino acids. This is the first description of AOA4 in a patient with central European descent. Furthermore, the occurrence of a pilocytic astrocytoma has not been described before in an AOA4 patient. Our data demonstrate compound heterozygous PNKP germline variants in a German patient with AOA4 and provide evidence for a possible link with tumor predisposition.

Localization of the 2 variants in human PNKP NP_009185.2. NM_007254.3:c.1253_1269dup p.(Thr424fs*49) is predicted to cause a frameshift within the kinase domain, NM_007254.3:c.1545C>G p.(Tyr515*) is predicted to cause loss of 2 C-terminal amino acids of the kinase domain and 5 additional C-terminal amino acids.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2oKml7c
via IFTTT

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

Thumbnail image of graphical abstract

SHH nonsense variant causes familial coloboma.



from Genetics via xlomafota13 on Inoreader http://ift.tt/2HWDtzq
via IFTTT

Satisfaction rate of patients undergoing sleeve gastrectomy as day-case surgery compared to conventional hospitalization: a prospective non-randomized study

Abstract

Purpose

Day-case surgery (DCS) has boomed over recent years. However, day-case bariatric surgery remains controversial due to a lack of evaluation. The objective of this study was to compare the experiences and satisfaction with general anesthesia of patients undergoing sleeve gastrectomy (SG) as DCS compared to conventional hospitalization.

Methods

Between January 2015 and June 2016, all patients undergoing primary SG as day-case surgery or with conventional hospitalization were prospectively included in this non-randomized, non-inferiority study comparing the level of satisfaction of patients undergoing SG with conventional hospitalization (CH group, gold standard) versus SG as DCS (DCS group). The primary efficacy endpoint was comparison of the overall satisfaction rate using the EVAN-G questionnaire. The secondary endpoints were evaluation of the 6 dimensions of the EVAN-G questionnaire, discharge from hospital, adhesion with SG management and overall satisfaction with SG.

Results

One-hundred and twenty-four patients met the inclusion criteria (62 in both groups). The DCS group was younger with fewer comorbidities (p ≤ 0.01) and had a lower BMI (p ≤ 0.01). Overall, the mean EVAN-G questionnaire score was 66.4 (63.9–68.9) for the DCS group and 68.9 (65.9–71.8) for the CH group (non-inferiority of DCS group). In the DCS group, 19% of patients would have preferred to spend the night in hospital, while 82% of patients in the CH group would have preferred DCS and a total of 75% of patients reported a high level of satisfaction.

Conclusion

Overall satisfaction of patients undergoing SG as day-case surgery was not inferior to that of patients managed by conventional hospitalization.



from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/2CTqx9y
via IFTTT