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https://www.readbyqxmd.com/read/28170084/debunking-occam-s-razor-diagnosing-multiple-genetic-diseases-in-families-by-whole-exome-sequencing
#1
Tugce B Balci, Taila Hartley, Yanwei Xi, David A Dyment, Chandree L Beaulieu, Francois P Bernier, Lucie Dupuis, Gabriella Horvath, Roberto Mendoza-Londono, Chitra Prasad, Julie Richer, Xiao-Ru Yang, Christine M Armour, Eric Bareke, Bridget A Fernandez, Hugh J McMillan, Ryan Lamont, Jacek Majewski, Jillian Parboosingh, A Narayan Prasad, Tony Rupar, Jeremy Schwartzentruber, Amanda C Smith, Martine Tétreault, A Micheil Innes, Kym M Boycott
Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the frequency of multiple genetic diagnoses in families is largely unknown. We set out to identify the rate of multiple genetic diagnoses in probands and their families referred for analysis in two national research programs in Canada. We retrospectively analyzed WES results for 802 undiagnosed probands referred over the past five years in either the FORGE or Care4Rare Canada WES sequencing initiatives...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28160875/understanding-palliative-care-and-hospice-a%C3%A2-review-for-primary-care-providers
#2
REVIEW
Mary K Buss, Laura K Rock, Ellen P McCarthy
Palliative care provides invaluable clinical management and support for patients and their families. For most people, palliative care is not provided by hospice and palliative medicine specialists, but rather by their primary care providers. The recognition of hospice and palliative medicine as its own medical subspecialty in 2006 highlighted the importance of palliative care to the practice of medicine, yet many health care professionals harbor misconceptions about palliative care, which may be a barrier to ensuring that the palliative care needs of their patients are identified and met in a timely fashion...
February 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28157568/identity-in-a-medicine-cabinet-discursive-positions-of-andean-migrants-towards-their-use-of-herbal-remedies-in-the-united-kingdom
#3
Melissa Ceuterick, Ina Vandebroek
This study explores different rationales for using herbal remedies among people from Andean descent in the United Kingdom, using positioning theory as a conceptual framework. By analysing processes of positioning in narratives about healthcare choices conducted with 40 Bolivian and Peruvian migrants in London (between 2005 and 2009), we examine in which ways talking about personal preferences for herbal medicine can be constitutive of one's health identity. The results reveal three distinct discursive repertoires that frame the use of herbal remedies either as a tradition, a health-conscious consumer choice, or as a coping strategy, each allowing specific health identity outcomes...
January 19, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28154047/predicting-armed-conflict-time-to-adjust-our-expectations
#4
REVIEW
Lars-Erik Cederman, Nils B Weidmann
This Essay provides an introduction to the general challenges of predicting political violence, particularly compared with predicting other types of events (such as earthquakes). What is possible? What is less realistic? We aim to debunk myths about predicting violence, as well as to illustrate the substantial progress in this field.
February 3, 2017: Science
https://www.readbyqxmd.com/read/28151937/conspiracy-beliefs-and-knowledge-about-hiv-origins-among-adolescents-in-soweto-south-africa
#5
Robert Hogg, Busisiwe Nkala, Janan Dietrich, Alexandra Collins, Kalysha Closson, Zishan Cui, Steve Kanters, Jason Chia, Bernard Barhafuma, Alexis Palmer, Angela Kaida, Glenda Gray, Cari Miller
PURPOSE: We examined adolescents' knowledge regarding the origin of HIV/AIDS and correlates of beliefs surrounding conspiracy theories in Soweto, South Africa. Now, a decade post-AIDS denialism, South Africa has the largest antiretroviral therapy roll-out worldwide. However, conspiracy theories stemming from past AIDS denialism may impact HIV prevention and treatment efforts. METHODS: Study participants were recruited through the Kganya Motsha Adolescent Health Centre and the Perinatal HIV Research Unit's Botsha Bophelo Adolescent Health Study (BBAHS)...
2017: PloS One
https://www.readbyqxmd.com/read/28113642/global-sensitivity-estimates-for-neural-network-classifiers
#6
Francisco Fernandez-Navarro, Mariano Carbonero-Ruz, David Becerra Alonso, Mercedes Torres-Jimenez
Artificial neural networks (ANNs) have traditionally been seen as black-box models, because, although they are able to find ``hidden'' relations between inputs and outputs with a high approximation capacity, their structure seldom provides any insights on the structure of the functions being approximated. Several research papers have tried to debunk the black-box nature of ANNs, since it limits the potential use of ANNs in many research areas. This paper is framed in this context and proposes a methodology to determine the individual and collective effects of the input variables on the outputs for classification problems based on the ANOVA-functional decomposition...
August 19, 2016: IEEE Transactions on Neural Networks and Learning Systems
https://www.readbyqxmd.com/read/28073329/the-other-side-of-magic
#7
Vebjørn Ekroll, Bilge Sayim, Johan Wagemans
When magicians perform spectacles that seem to defy the laws of nature, they do so by manipulating psychological reality. Hence, the principles underlying the art of conjuring are potentially of interest to psychological science. Here, we argue that perceptual and cognitive principles governing how humans experience hidden things and reason about them play a central role in many magic tricks. Different from tricks based on many other forms of misdirection, which require considerable skill on the part of the magician, many elements of these tricks are essentially self-working because they rely on automatic perceptual and cognitive processes...
January 2017: Perspectives on Psychological Science: a Journal of the Association for Psychological Science
https://www.readbyqxmd.com/read/28041921/rising-trend-of-diabetes-mellitus-amongst-the-undernourished-state-of-the-art-review
#8
REVIEW
Nimmy K Francis, Harpreet S Pawar, Anirban Mitra, Analava Mitra
Diabetes mellitus is prevailing in the malnourished populations congruently in well-nourished ones with an escalating trend in the former group regardless of the absence of obesity as an etiologic determining factor as per the studies in underprivileged sectors of the population. Chronic undernutrition across a lifetime may be an imperative stimulator of diabetes in an individual either by progressively reducing beta cell function alongside islet cell volume and increasing the individual predisposition to other genetic or environmental diabetogenic influences with modifying influence on the course of clinical syndrome...
December 23, 2016: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28009542/oh-cleavage-from-tyrosine-debunking-a-myth
#9
Charles S Bury, Ian Carmichael, Elspeth F Garman
During macromolecular X-ray crystallography experiments, protein crystals held at 100 K have been widely reported to exhibit reproducible bond scission events at doses on the order of several MGy. With the objective to mitigate the impact of radiation damage events on valid structure determination, it is essential to correctly understand the radiation chemistry mechanisms at play. OH-cleavage from tyrosine residues is regularly cited as amongst the most available damage pathways in protein crystals at 100 K, despite a lack of widespread reports of this phenomenon in protein crystal radiation damage studies...
January 1, 2017: Journal of Synchrotron Radiation
https://www.readbyqxmd.com/read/27966718/green-light-ionization-of-3-aminoperylene-in-sds-micelles-a-promising-access-to-hydrated-electrons-despite-a-myth-debunked
#10
Tim Kohlmann, Robert Naumann, Christoph Kerzig, Martin Goez
Using an improved methodology, we have carefully reinvestigated the title reaction by laser flash photolysis and disproved an earlier study (J. K. Thomas and P. Piciulo, J. Am. Chem. Soc., 1978, 100, 3239), which claimed this green-light ionization to be monophotonic, the only instance of such a scenario ever reported for a stable compound. We show it to be biphotonic instead, in accordance with thermodynamic considerations, and present a photokinetic model that accurately represents the intensity dependences throughout the whole excitation range in the green (532 nm) and the near UV (355 nm), up to near-quantitative electron release in the latter case...
December 14, 2016: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/27881533/seven-bacteriophages-isolated-from-the-female-urinary-microbiota
#11
Kema Malki, Emily Sible, Alexandria Cooper, Andrea Garretto, Katherine Bruder, Siobhan C Watkins, Catherine Putonti
Recent research has debunked the myth that urine is sterile, having uncovered bacteria within the bladders of healthy individuals. However, the identity, diversity, and putative roles of bacteriophages in the bladder are unknown. We report the draft genome sequences of seven bacteriophages isolated from microbial communities from adult female bladders.
November 23, 2016: Genome Announcements
https://www.readbyqxmd.com/read/27871955/challenges-to-practicing-sexual-medicine-in-the-middle-east
#12
REVIEW
Abdulaziz Baazeem
INTRODUCTION: The Middle East is a vast region that includes the Arabian Peninsula, Turkey, Iran, the Levant, and North Africa. Some of the world's earliest civilizations appeared in this region and major religions such as Judaism, Christianity, and Islam originated there. It is an influential region in politics, economy, and resources, but it remains largely enigmatic to those outside the region. The various ethnicities, religions, traditions, and customs in the region have made it unique and diverse at the same time...
July 2016: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/27865431/regression-based-statistical-mediation-and-moderation-analysis-in-clinical-research-observations-recommendations-and-implementation
#13
Andrew F Hayes, Nicholas J Rockwood
There have been numerous treatments in the clinical research literature about various design, analysis, and interpretation considerations when testing hypotheses about mechanisms and contingencies of effects, popularly known as mediation and moderation analysis. In this paper we address the practice of mediation and moderation analysis using linear regression in the pages of Behaviour Research and Therapy and offer some observations and recommendations, debunk some popular myths, describe some new advances, and provide an example of mediation, moderation, and their integration as conditional process analysis using the PROCESS macro for SPSS and SAS...
November 5, 2016: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/27847912/testosterone-therapy-in-men-with-testosterone-deficiency-are-we-beyond-the-point-of-no-return
#14
REVIEW
Abdulmaged Traish
Although testosterone therapy in men with testosterone deficiency was introduced in the early 1940s, utilization of this effective treatment approach in hypogonadal men is met with considerable skepticism and resistance. Indeed, for decades, the fear that testosterone may cause prostate cancer has hampered clinical progress in this field. Nevertheless, even after considerable knowledge was acquired that this fear is unsubstantiated, many in the medical community remain hesitant to utilize this therapeutic approach to treat men with hypogonadism...
November 2016: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/27832791/genetic-tools-for-advancement-of-synechococcus-sp-pcc-7002-as-a-cyanobacterial-chassis
#15
Anne M Ruffing, Travis J Jensen, Lucas M Strickland
BACKGROUND: Successful implementation of modified cyanobacteria as hosts for industrial applications requires the development of a cyanobacterial chassis. The cyanobacterium Synechococcus sp. PCC 7002 embodies key attributes for an industrial host, including a fast growth rate and high salt, light, and temperature tolerances. This study addresses key limitations in the advancement of Synechococcus sp. PCC 7002 as an industrial chassis. RESULTS: Tools for genome integration were developed and characterized, including several putative neutral sites for genome integration...
November 10, 2016: Microbial Cell Factories
https://www.readbyqxmd.com/read/27766848/debunking-the-idea-that-ligand-efficiency-indices-are-superior-to-pic50-as-qsar-activities
#16
Robert P Sheridan
Several papers have appeared in which a ligand efficiency index instead of pIC50 is used as the activity in QSAR. The claim is that better fits and predictions are obtained with ligand efficiency. We show on both public-domain and in-house data sets that the apparent superiority is a statistical artifact that occurs when ligand efficiency indices are correlated with the physical property included in their definition (number of non-hydrogens, ALOGP, TPSA, etc.) and when the property is easier to predict than the original pIC50...
November 28, 2016: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/27762972/facing-down-s-syndrome-myths
#17
(no author information available yet)
Layla Haidrani, writing in Learning Disability Practice, aims to debunk the myths and misconceptions that parents of children with Down's syndrome face.
October 12, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27631581/debunking-lymphedema-risk-reduction-behaviors-risky-conclusions
#18
Judith Nudelman
No abstract text is available yet for this article.
September 2016: Lymphatic Research and Biology
https://www.readbyqxmd.com/read/27611769/debunking-the-july-effect-myth
#19
Eric K Wei, Laura Sarff, Brad Spellberg
No abstract text is available yet for this article.
September 8, 2016: Journal of Patient Safety
https://www.readbyqxmd.com/read/27552770/global-sensitivity-estimates-for-neural-network-classifiers
#20
Francisco Fernandez-Navarro, Mariano Carbonero-Ruz, David Becerra Alonso, Mercedes Torres-Jimenez
Artificial neural networks (ANNs) have traditionally been seen as black-box models, because, although they are able to find ``hidden'' relations between inputs and outputs with a high approximation capacity, their structure seldom provides any insights on the structure of the functions being approximated. Several research papers have tried to debunk the black-box nature of ANNs, since it limits the potential use of ANNs in many research areas. This paper is framed in this context and proposes a methodology to determine the individual and collective effects of the input variables on the outputs for classification problems based on the ANOVA-functional decomposition...
August 19, 2016: IEEE Transactions on Neural Networks and Learning Systems
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