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https://www.readbyqxmd.com/read/28938278/whole-exome-sequencing-in-inborn-errors-of-immunity-use-the-power-but-mind-the-limits
#1
Giorgia Bucciol, Erika Van Nieuwenhove, Leen Moens, Yuval Itan, Isabelle Meyts
PURPOSE OF REVIEW: Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. RECENT FINDINGS: The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES and targeted panel sequencing, as well as the need for functional validation...
September 21, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28936795/the-ugly-truth-about-ourselves-and-our-robot-creations-the-problem-of-bias-and-social-inequity
#2
Ayanna Howard, Jason Borenstein
Recently, there has been an upsurge of attention focused on bias and its impact on specialized artificial intelligence (AI) applications. Allegations of racism and sexism have permeated the conversation as stories surface about search engines delivering job postings for well-paying technical jobs to men and not women, or providing arrest mugshots when keywords such as "black teenagers" are entered. Learning algorithms are evolving; they are often created from parsing through large datasets of online information while having truth labels bestowed on them by crowd-sourced masses...
September 21, 2017: Science and Engineering Ethics
https://www.readbyqxmd.com/read/28934125/optimized-mtdna-control-region-primer-extension-capture-analysis-for-forensically-relevant-samples-and-highly-compromised-mtdna-of-different-age-and-origin
#3
Mayra Eduardoff, Catarina Xavier, Christina Strobl, Andrea Casas-Vargas, Walther Parson
The analysis of mitochondrial DNA (mtDNA) has proven useful in forensic genetics and ancient DNA (aDNA) studies, where specimens are often highly compromised and DNA quality and quantity are low. In forensic genetics, the mtDNA control region (CR) is commonly sequenced using established Sanger-type Sequencing (STS) protocols involving fragment sizes down to approximately 150 base pairs (bp). Recent developments include Massively Parallel Sequencing (MPS) of (multiplex) PCR-generated libraries using the same amplicon sizes...
September 21, 2017: Genes
https://www.readbyqxmd.com/read/28933874/wisdom-bias-and-balance-toward-a-process-sensitive-measurement-of-wisdom-related-cognition
#4
Justin P Brienza, Franki Y H Kung, Henri C Santos, D Ramona Bobocel, Igor Grossmann
Philosophers and behavioral scientists refer to wisdom as unbiased reasoning that guides one toward a balance of interests and promotes a good life. However, major instruments developed to test wisdom appear biased, and it is unclear whether they capture balance-related tendencies. We examined whether shifting from global, de-contextualized reports to state-level reports about concrete situations provides a less biased method to assess wise reasoning (e.g., intellectual humility, recognition of uncertainty and change, consideration of the broader context at hand and perspectives of others, integration of these perspectives or compromise), which may be aligned with the notion of balancing interests...
September 21, 2017: Journal of Personality and Social Psychology
https://www.readbyqxmd.com/read/28931749/ethics-in-published-brain-computer-interface-research
#5
Laura Specker Sullivan, Judy Illes
OBJECTIVE: Sophisticated signal processing has opened the doors to more research with human subjects than ever before. The increase in the use of human subjects in research comes with a need for increased human subjects protections. APPROACH: We quantified the presence or absence of ethics language in published reports of BCI studies that involved human subjects and qualitatively characterized ethics statements. MAIN RESULTS: Reports of BCI studies with human subjects that are published in neural engineering and engineering journals are anchored in the rationale of technological improvement...
September 21, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28930219/qigong-in-cancer-care-theory-evidence-base-and-practice
#6
Penelope Klein
Background: The purpose of this discussion is to explore the theory, evidence base, and practice of Qigong for individuals with cancer. Questions addressed are: What is qigong? How does it work? What evidence exists supporting its practice in integrative oncology? What barriers to wide-spread programming access exist? Methods: Sources for this discussion include a review of scholarly texts, the Internet, PubMed, field observations, and expert opinion. Results: Qigong is a gentle, mind/body exercise integral within Chinese medicine...
January 12, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28929280/ecology-of-scedosporium-species-present-knowledge-and-future-research
#7
A Rougeron, S Giraud, A Alastruey-Izquierdo, J Cano-Lira, J Rainer, A Mouhajir, S Le Gal, G Nevez, W Meyer, J P Bouchara
The genus Scedosporium, which comprises at least five clinically relevant species, i.e. Scedosporium apiospermum, Scedosporium boydii, Scedosporium aurantiacum, Scedosporium dehoogii and Scedosporium minutisporum, ranks the second among the filamentous fungi colonizing the airways of patients with cystic fibrosis (CF). This colonization of the airways is thought to contribute to the inflammatory reaction leading to a progressive deterioration of the lung function. Additionally, these colonizing fungi may lead to severe disseminated infections in case of lung transplantation...
September 19, 2017: Mycopathologia
https://www.readbyqxmd.com/read/28927429/the-impact-of-lipoprotein-lipase-deficiency-on-health-related-quality-of-life-a-detailed-structured-qualitative-study
#8
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S Wierzbicki, Handrean Soran
BACKGROUND: Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. METHODS: The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30-45-min follow-up telephone interview...
September 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28926526/group-interventions-to-reduce-emotional-distress-and-fatigue-in-breast-cancer-patients-a-9-month-follow-up-pragmatic-trial
#9
Charlotte Grégoire, Isabelle Bragard, Guy Jerusalem, Anne-Marie Etienne, Philippe Coucke, Gilles Dupuis, Dominique Lanctôt, Marie-Elisabeth Faymonville
BACKGROUND: Long-term effects of psychosocial interventions to reduce emotional distress, sleep difficulties, and fatigue of breast cancer patients are rarely examined. We aim to assess the effectiveness of three group interventions, based on cognitive behavioural therapy (CBT), yoga, and self-hypnosis, in comparison to a control group at a 9-month follow-up. METHODS: A total of 123 patients chose to participate in one of the interventions. A control group was set up for those who agreed not to participate...
September 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28926413/the-role-of-cognitive-content-and-cognitive-processes-in-chronic-pain-an-important-distinction
#10
Mark P Jensen, Beverly E Thorn, James Carmody, Francis J Keefe, John W Burns
Pain-related cognitive content (what people think about pain) and cognitive processes (how people think about pain; what they do with their pain-related thoughts) and their interaction are hypothesized to play distinct roles in patient function. However, questions have been raised regarding whether it is possible or practical to assess cognitive content and cognitive process as distinct domains. The aim of this study was to determine the extent to which measures that appear to assess mostly pain-related cognitive content, cognitive processes, and content and process, are relatively independent from each other and contribute unique variance to the prediction of patient function...
September 15, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28924399/changing-the-rules-of-the-game-how-do-we-measure-success-in-social-media
#11
REVIEW
Aisling M Hogan, Desmond C Winter
Ours will be the generation proud to say we shifted the sands of educational deserts by open access and proliferation, seeding of data sharing, and watering grassroots research in resource-compromised environments. Universal "social" media is defining features of modern professional life that provide powerful modes of knowledge acquisition/sharing to that end. Altmetric and other measurements stratify academic communications according to this alternate, online media presence (not academic penetrance). Are they meaningless, self-absorbed integers, or reliable yardsticks of scientific and educational prowess? Far beyond this trite, patronizing question from the minds of outdated, terrified technophobes, the real impact of "social" media is not narcissistic solipsism...
September 2017: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/28923160/applying-the-neurodynamics-of-emotional-circular-causalities-in-psychosocial-and-cognitive-therapy-using-multi-sensory-environments-an-orbde-case-study-analysis
#12
Janice Ryan
This exploratory, evidence-based practice research study focuses on presenting a plausible mesoscopic brain dynamics hypothesis for the benefits of treating clients with psychosocial and cognitive challenges using a mindful therapeutic approach and multi-sensory environments. After an extensive neuroscientific review of the therapeutic benefits of mindfulness, a multi-sensory environment is presented as a window of therapeutic opportunity to more quickly and efficiently facilitate the neurobiological experience of becoming more mindful or conscious of self and environment...
October 2017: Nonlinear Dynamics, Psychology, and Life Sciences
https://www.readbyqxmd.com/read/28922816/-people-love-player-s-cigarette-advertising-and-the-teenage-consumer-in-post-war-britain
#13
Daniel O'Neill
This article explores the background, creation and reception of a prominent cigarette advertising campaign from the early 1960s. The advertisements featured young couples falling in love as they shared Player's Medium cigarettes together. As such, the advertisements reflected the central place of the teenager within post-war British consumer culture. The campaign was built upon the insights of market research, particularly that carried out by Mark Abrams and his research organization Research Services Limited...
September 1, 2017: 20 Century British History
https://www.readbyqxmd.com/read/28922666/statues-researchers-to-mind-their-history
#14
Evelynn M Hammonds, Susan M Reverby
No abstract text is available yet for this article.
September 18, 2017: Nature
https://www.readbyqxmd.com/read/28922520/a-review-of-joint-attention-and-social-cognitive-brain-systems-in-typical-development-and-autism-spectrum-disorder
#15
Peter Mundy
This article provides a review of the increasingly detailed literature on the neurodevelopment of joint attention. Many findings from this literature support and inform the hypothesis that the neurodevelopment of joint attention contributes to the functional development of neural systems for human social cognition. Joint attention begins to develop by 5 months of age and is tantamount to the ability to adopt a common perspective with another person. It involves a whole-brain system with nodes in the: (a) dorsal and medial frontal cortex, (b) orbital frontal/insula cortex, (c) anterior/ posterior cingulate cortex, (d) superior temporal cortex, (e) precuneus/parietal cortex, and (f) amygdala and striatum...
September 18, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28922416/multi-level-computational-methods-for-interdisciplinary-research-in-the-hathitrust-digital-library
#16
Jaimie Murdock, Colin Allen, Katy Börner, Robert Light, Simon McAlister, Andrew Ravenscroft, Robert Rose, Doori Rose, Jun Otsuka, David Bourget, John Lawrence, Chris Reed
We show how faceted search using a combination of traditional classification systems and mixed-membership topic models can go beyond keyword search to inform resource discovery, hypothesis formulation, and argument extraction for interdisciplinary research. Our test domain is the history and philosophy of scientific work on animal mind and cognition. The methods can be generalized to other research areas and ultimately support a system for semi-automatic identification of argument structures. We provide a case study for the application of the methods to the problem of identifying and extracting arguments about anthropomorphism during a critical period in the development of comparative psychology...
2017: PloS One
https://www.readbyqxmd.com/read/28922006/process-factors-explaining-psycho-social-outcomes-in-adventure-therapy
#17
Keith C Russell, Harold L Lee Gillis, Dennis M Kivlighan
The development and factor analysis of the Adventure Therapy Experience Scale (ATES) is the first attempt found in the literature to empirically and quantitatively identify therapeutic factors theorized to affect change in the adventure therapy experience (Russell & Gillis, 2017). This study utilizes the ATES to explore how its inherent factors may impact treatment outcome utilizing a routine outcome monitoring process to empirically test how these factors may contribute to treatment outcome over time. The sample of 168 males 21...
September 2017: Psychotherapy
https://www.readbyqxmd.com/read/28921759/a-pedagogical-framework-for-facilitating-parents-learning-in-nurse-parent-partnership
#18
Nick Hopwood, Teena Clerke, Anne Nguyen
Nursing work increasingly demands forms of expertise that complement specialist knowledge. In child and family nursing, this need arises when nurses work in partnership with parents of young children at risk. Partnership means working with parents in respectful, negotiated and empowering ways. Existing partnership literature emphasises communicative and relational skills, but this paper focuses on nurses' capacities to facilitate parents' learning. Referring to data from home visiting, day-stay and specialist toddler clinic services in Sydney, a pedagogical framework is presented...
September 17, 2017: Nursing Inquiry
https://www.readbyqxmd.com/read/28921306/brief-report-feasibility-and-preliminary-efficacy-of-individual-mindfulness-therapy-for-adults-with-autism-spectrum-disorder
#19
Caitlin M Conner, Susan W White
Intervention research on adults with autism spectrum disorder (ASD) is sparse. Many adults with ASD experience impaired emotion regulation (ER), which is thought to contribute to higher rates of psychiatric comorbidities among adults with ASD and indirect effects upon adaptive functioning, interpersonal relationships, and vocational status. The purpose of this study was to investigate feasibility and initial efficacy of an adapted mindfulness-based individual therapy targeting ER difficulties for adults with ASD...
September 18, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28920970/-mind-your-teeth-the-relationship-between-mastication-and-cognition
#20
R A F Weijenberg, S Delwel, B V Ho, C D Wierink, F Lobbezoo
Elderly persons, especially those suffering from dementia, are at great risk of suffering from oral health problems such as orofacial pain and loss of natural teeth. A possible explanation could be that the cognitive and motor impairments resulting from dementia cause a decrease in self-care and as such, a worsening of oral health. An alternative explanation is that cognition and oral health influence each other. Animal studies show that a decrease in masticatory activity, for example due to a soft diet or loss of teeth, causes memory loss and neuronal degeneration...
September 2017: Nederlands Tijdschrift Voor Tandheelkunde
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