Δευτέρα, 28 Ιανουαρίου 2019

What Motivates Mental Health Clinicians-in-Training to Implement Evidence-Based Assessment? A Survey of Social Work Trainees

Abstract

Mental health clinicians do not consistently use evidence-based assessment (EBA), a critical component of accurate case conceptualization and treatment planning. The present study used the Unified Theory of Behavior to examine determinants of intentions to use EBA in clinical practice among a sample of Masters' level social work trainees (N = 241). Social norms had the largest effect on intentions to use EBA. Injunctive norms in reference to respected colleagues accounted for the most variance in EBA intentions. Findings differed for respondents over 29 years of age versus younger respondents. Implications for implementation strategies and further research are discussed.



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Experimental validation of the 3-parameter critical power model in cycling

Abstract

Purpose

The three-parameter model of critical power (3-p) implies that in the severe exercise intensity domain time to exhaustion (Tlim) decreases hyperbolically with power output starting from the power asymptote (critical power, cr) and reaching 0 s at a finite power limit (0) thanks to a negative time asymptote (k). We aimed to validate 3-p for short Tlim and to test the hypothesis that 0 represents the maximal instantaneous muscular power.

Methods

Ten subjects performed an incremental test and nine constant-power trials to exhaustion on an electronically braked cycle ergometer. All trials were fitted to 3-p by means of non-linear regression, and those with Tlim greater than 2 min also to the 2-parameter model (2-p), obtained constraining k to 0 s. Five vertical squat jumps on a force platform were also performed to determine the single-leg (i.e., halved) maximal instantaneous power.

Results

Tlim ranged from 26 ± 4 s to 15.7 ± 4.9 min. In 3-p, with respect to 2-p, cr was identical (177 ± 26 W), while curvature constant W' was higher (17.0 ± 4.3 vs 15.9 ± 4.2 kJ, p < 0.01). 3-p-derived 0 was lower than single-leg maximal instantaneous power (1184 ± 265 vs 1554 ± 235 W, p < 0.01).

Conclusions

3-p is a good descriptor of the work capacity above cr up to Tlim as short as 20 s. However, since there is a discrepancy between estimated 0 and measured maximal instantaneous power, a modification of the model has been proposed.



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Loneliness and biological responses to acute stress in people with Type 2 diabetes

Abstract

Loneliness is linked with all‐cause mortality and coronary heart disease. Altered neuroendocrine and inflammatory responses to stress constitute potential pathways linking loneliness and ill‐health. Stress responsivity is modified in people with Type 2 diabetes, but it is unclear whether loneliness influences biological stress responses in this population. We assessed interleukin‐6 (IL‐6), interleukin‐1 receptor antagonist (IL‐1RA), monocyte chemoattractant protein‐1 (MCP‐1), and cortisol responses to acute stress in 135 people with Type 2 diabetes. Loneliness was measured used the Revised UCLA Loneliness Scale. Loneliness was inversely associated with cortisol output poststress (B = −4.429, p = 0.019) independent of age, sex, education, marital status, body mass index, and smoking. Lonelier individuals had raised MCP‐1 concentrations 75 min poststress independent of covariates (B = 0.713, p = 0.022). No associations between loneliness and IL‐6 or IL‐1RA concentrations were detected. These results suggest that loneliness is associated with disturbances in stress responsivity in people with diabetes, and the impact of loneliness on health in people with diabetes may be mediated in part through dysregulation of inflammatory and neuroendocrine systems. Future research is required to understand if such changes increase the risk of poorer outcomes in this population.



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What football can teach us about patient assessment

Patient assessment is a often a team effort that requires a plan, roles, and follow through

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Sex-Specific Co-expression Networks and Sex-Biased Gene Expression in the Salmonid Brook Charr Salvelinus fontinalis

Networks of co-expressed genes produce complex phenotypes associated with functional novelty. Sex differences in gene expression levels or in the structure of gene co-expression networks can cause sexual dimorphism and may resolve sexually antagonistic selection. Here we used RNA-sequencing in the salmonid Brook Charr Salvelinus fontinalis to characterize sex-specific co-expression networks in the liver of 47 female and 53 male offspring. In both networks, modules were characterized for functional enrichment, hub gene identification, and associations with 15 growth, reproduction, and stress-related phenotypes. Modules were then evaluated for preservation in the opposite sex, and in the congener Arctic Charr Salvelinus alpinus. Overall, more transcripts were assigned to a module in the female network than in the male network, which coincided with higher inter-individual gene expression and phenotype variation in the females. Most modules were preserved between sexes and species, including those involved in conserved cellular processes (e.g. translation, immune pathways). However, two sex-specific male modules were identified, and these may contribute to sexual dimorphism. To compare with the network analysis, differentially expressed transcripts were identified between the sexes, revealing a total of 16% of expressed transcripts as sex-biased. For both sexes, there was no overrepresentation of sex-biased genes or sex-specific modules on the putative sex chromosome. Sex-biased transcripts were also not overrepresented in sex-specific modules, and in fact highly male-biased transcripts were enriched in preserved modules. Comparative network analysis and differential expression analyses identified different aspects of sex differences in gene expression, and both provided new insights on the genes underlying sexual dimorphism in the salmonid Brook Charr.



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Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes

Clinical Genetics Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes


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In This Issue



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Table of Contents, Volume 179A, Number 2, February 2019



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De Novo Mutations have Variable Recurrences Within Families



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Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

Smith–Magenis syndrome (SMS) is a contiguous gene syndrome linked to interstitial microdeletion, or mutation of RAI1, within chromosome 17p11.2. Key behavioral features of SMS include intellectual disability, sleep‐disturbances, maladaptive, aggressive and self‐injurious behaviors, hyperactivity, and sudden changes in mood. A distinguishing feature of this syndrome is an inverted pattern of melatonin characterized by elevated daytime and low nighttime melatonin levels. As the central circadian clock controls the 24‐hr rhythm of melatonin, we hypothesized that the clock itself may contribute to the disrupted pattern of melatonin and sleep. In this report, 24‐hr patterns of body temperature, a surrogate marker of clock‐timing, and continuous wrist activity were collected to examine the links between body temperature, sleep behavior, and the circadian clock. In addition, age‐dependent changes in sleep behavior were explored. Actigraphy‐estimated sleep time for SMS was 1 hr less than expected across all ages studied. The timing of the 24‐hr body temperature (Tb‐24) rhythm was phase advanced, but not inverted. Compared to sibling (SIB) controls, the SMS group had less total night sleep, lower sleep efficiency, earlier sleep onset, earlier final awake times, increased waking after sleep onset (WASO), and increased daytime nap duration. The timing of wake onset varied with age, providing evidence of ongoing developmental sleep changes from childhood through adolescence. Clarification of the circadian and developmental factors that contribute to the disrupted and variable sleep patterns in this syndrome will be helpful in identifying more effective individualized treatments.



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POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann‐Rautenstrauch Syndrome: New findings show “compelling evidence” that POLR3A mutations underlie the etiology of autosomal‐recessive WRS



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Publication schedule for 2019



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Cover Image, Volume 179A, Number 2, February 2019

American Journal of Medical Genetics Part A Cover Image, Volume 179A, Number 2, February 2019

The cover image is based on the Original Article A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families by Jessica N. Hartley et al., DOI: 10.1002/ajmg.a.60690.




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The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero‐octameric proteins involved in retrograde trafficking within the Golgi. Seven of its eight subunits have a causal role in CDG. To date, only three cases of COG8‐CDG have been published but none in the antenatal period. We present the first case of antenatally diagnosed COG8‐CDG with facial dysmorphism and additional features such as Dandy‐Walker malformation and arthrogryposis multiplex congenita, thus expanding the phenotype of this rare disorder. Trio whole exome sequencing revealed a novel homozygous variant in COG8, which creates a new splice site in exon 5 and protein truncation after 12 amino acids downstream to the newly generated splice site. As the mutations of the previous three patients were also identified in exon 5, it is likely to be a potential mutational hotspot in COG8. An association between antenatally increased nuchal translucency and COG8‐CDG is also established, which would alert clinicians to its diagnosis early in gestation. It remains to be seen if this observation can be extended to other COG‐CDGs.



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Schuurs‐Hoeijmakers syndrome in a patient from India

Schuurs‐Hoeijmakers syndrome (SHMS), or Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) is a rare form of intellectual disability with distinct facial features. A recurrent de novo heterozygous c.607C>T, p.Arg203Trp mutation in the PACS1 gene accounts for all reported cases except for one patient with a de novo heterozygous c.608G>A, p.Arg203Trp mutation. Ethnic background is known to affect the clinical manifestation of dysmorphic syndromes. Here we describe the first Indian patient with Schuurs‐Hoeijmakers syndrome (SHMS) with a de novo heterozygous NM_018026.3 (PACS1):c.607C>T (p.Arg203Trp) variant. He is the only child with SHMS with a cleft lip. Thus our report expands the phenotypic spectrum of SHMS and establishes its occurrence across populations.



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Spontaneous bilateral iliopsoas tendon tears

No abstract available

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Reply to Holgado et al.: Comment on “Review of WADA Prohibited Substances: Limited Evidence for Performance-Enhancing Effects”



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Comment on “Review of WADA Prohibited Substances: Limited Evidence for Performance-Enhancing Effects”



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Bone Bruises Associated with Anterior Cruciate Ligament Injury as Indicators of Injury Mechanism: A Systematic Review

Abstract

Background

Anterior cruciate ligament (ACL) injury is one of the most common injuries in sports, and the injury mechanisms are not completely clear. Bone bruises seen on magnetic resonance imaging (MRI) following ACL injuries may provide significant information for determining ACL injury mechanisms.

Objective

The aim was to determine ACL injury mechanisms through an evaluation of locations of bone bruises associated with ACL injury.

Methods

A search for related articles in PubMed and the EBSCO Sport Database was performed using selected search strings from inception to August 6, 2018. Original studies with specified bone bruise locations identified using MRI technology were reviewed.

Results

A total of 12 studies with 589 patients were selected for review. A total of 471 bone bruises in the lateral tibial plateau were reported. Of these bone bruises, 409 (87%) occurred in the posterior section. A total of 242 bone bruises in the medial tibial plateau were reported. Of these bone bruises, 208 (86%) occurred in the posterior section. A total of 266 bone bruises in the lateral femoral condyle were reported. Of these bone bruises, 65 (25%) and 184 (69%) occurred in the anterior and central sections, respectively. A total of 105 bone bruises in the medial femoral condyle were reported. Of these bone bruises, 49 (47%) and 41 (39%) occurred in the anterior and central sections, respectively.

Conclusions

Bone bruise location patterns indicate that tibial anterior translation relative to the femur was a primary injury mechanism in the majority of ACL injuries selected in this review, and that the maximal knee valgus apparently occurred after tibial anterior translation sufficient to injure the ACL. Bone bruise location patterns also indicate knee hyper-extension as another mechanism of non-contact ACL injury.



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Vividly coloured poppy flowers due to dense pigmentation and strong scattering in thin petals

Abstract

The flowers of poppies (Papaveraceae) exhibit bright colours, despite their thin and floppy petals. We investigated the optical properties of flowers of Papaver rhoeas, P. dubium, Meconopsis cambrica and Argemone polyanthemos using a combined approach of anatomy, spectrophotometry and optical modelling. The petals of Papaver flowers are composed of only three cell layers, an upper and lower epidermal layer, which are densely filled with pigment, and an unpigmented mesophyll layer. Dense pigmentation together with strong scattering structures, composed of serpentine cell walls and air cavities, cause the striking poppy colours. We discuss how various aspects of the optical signal contribute to the flower's visibility to pollinators.



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Dietary Diversity, Food Security, and Body Image among Women and Children on San Cristobal Island, Galapagos

Abstract

Objectives: We conducted a study of the food environment and nutritional status among women and children living on a Galapagos Island. Anthropometric and body silhouette data give insight into body size perceptions for women and their young children. We frame our findings in the context of the nutrition transition. Methods: A convenience sample was recruited via word-of-mouth for in-depth interviews and assessments of household food security, dietary intake, anthropometrics, and body image. Interviews took place in 2011 on San Cristobal Island, one of four inhabited islands in the Galapagos archipelago. Twenty women with children between the ages of one and six participated, all permanent residents of San Cristobal Island. Results: Most women (60%) reported limited availability of fresh produce due to an unreliable food supply shipped from mainland Ecuador. Despite reported food insecurity in our sample (55%), more than half of the children (55%) experienced high dietary diversity measured by 24 h recall. Women tended to report less dietary diversity than their children, which may be linked to a stated desire to be thinner. Eighty percent of children were classified as normal weight, while 75% of women were overweight or obese. Conclusions for Practice: Results provide an initial survey of the food landscape on one Galapagos Island. By combining qualitative interviews with indicators of nutritional status, the narrative data allow an interpretation of issues of food security, dietary intakes, dietary diversity, and body size. This study forms the basis for a larger examination of these issues in the Galapagos islands.



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Terrestrial cue learning and retention during the outbound and inbound foraging trip in the desert ant, Cataglyphis velox

Abstract

Foraging ants are able to acquire and retain long-term memories of panorama cues around the nest and along known routes. Here we explore foragers' ability to learn and retain skyline cues experienced on only the outbound or inbound portion of the foraging trip. Foragers exposed to the skyline on the outbound portion showed single trial learning of these cues. Furthermore, the navigational performance of these "Outbound-Only" foragers was on par with foragers that experienced the full route. In contrast, foragers experiencing the skyline only on the inbound portion, "Inbound-Only" foragers, took 5 trips to successfully learn these cues. These performance differences persisted for long-term memory retention. Outbound-Only foragers successfully oriented after a 3-day delay and showed similar performance to the full route control, whereas Inbound-Only foragers were no longer able to orient successfully to these cues after 3 days. Additionally, long-term memory formation of skyline cues appears to require multiple presentations, as foragers with only one outbound experience of the skyline could not successfully orient after the delay. Our results suggest that terrestrial cue learning and retention is more robust when cues are experienced on the outbound segment of the foraging trip.



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