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https://www.readbyqxmd.com/read/28641396/geneticization-in-mim-omim%C3%A2-exploring-historic-and-epistemic-drivers-of-contemporary-understandings-of-genetic-disease
#1
Rachel A Ankeny
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s. This catalogue was organized according to general patterns of inheritance and focused on phenotypes. Beginning in the mid-1980s, it was replaced by Online Mendelian Inheritance in Man (OMIM®), a continuously updated catalogue documenting molecular relationships between genetic variation and phenotypic expression...
June 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28641392/alcohol-is-not-protective-against-mortality-following-traumatic-brain-injury
#2
Jennifer S Albrecht, Majid Afshar, Deborah M Stein, Gordon S Smith
Alcohol exposure results in reduced mortality following traumatic brain injury (TBI) in animal models, yet clinical studies reported conflicting results and clinical trials based on proposed mechanisms have been disappointing. Methodological issues common to many of the clinical studies may have contributed to spurious results. Our objective was to evaluate the association between blood alcohol concentration (BAC) and in-hospital mortality following TBI, overcoming methodological problems of prior studies. We conducted a retrospective cohort study on individuals treated for isolated TBI at the R Adams Cowley Shock Trauma Center between 1997-2012 (n = 1,084)...
June 21, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28641353/-negative-pressure-wound-therapy-randomised-controlled-trials-from-2000-to-2015
#3
Frank Peinemann
Background Negative pressure wound therapy is believed to promote wound healing. However, the results from randomised controlled trials (RCTs) are inconsistent. Systematic reviews indicate unclear evidence, due in part to low-quality RCTs, calling for more RCTs of higher quality. Methods This study aimed to ascertain the number of RCTs as well as systematic reviews on RCTs published during the time period from 2000 to 2015. Various search strategies were used to identify studies in PubMed, Cochrane Library, Google, references lists of retrieved articles, and institutions that issue evidence reports...
June 2017: Zentralblatt Für Chirurgie
https://www.readbyqxmd.com/read/28641321/identifying-and-acting-on-potentially-inappropriate-care-inadequacy-of-current-hospital-coding-for-this-task
#4
P David Cooper, David R Smart
INTRODUCTION: Recent Australian attempts to facilitate disinvestment in healthcare, by identifying instances of 'inappropriate' care from large Government datasets, are subject to significant methodological flaws. Amongst other criticisms has been the fact that the Government datasets utilized for this purpose correlate poorly with datasets collected by relevant professional bodies. Government data derive from official hospital coding, collected retrospectively by clerical personnel, whilst professional body data derive from unit-specific databases, collected contemporaneously with care by clinical personnel...
June 2017: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
https://www.readbyqxmd.com/read/28641266/an-approach-to-identifying-phenomena-accompanying-micro-and-nanoparticles-in-contact-with-irregular-vessel-walls
#5
K Talaska, A Ferreira
OBJECTIVE: The objective of this manuscript is to present the method for determining the nature and values of the forces needed to set micro and nanoparticles sitting immobile at the blood vessel wall in motion. METHODS: The problem was tackled in two ways. Microparticles were examined as objects coming into contact with the wall with the actual large arteriole-type vessel structure. The forces acting on microparticles 10 μm, 30 μm and 50 μm in diameter were determined: drag force FD, lift force FL, electrostatic force FE and gravity force FG...
June 19, 2017: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/28641244/computerized-lung-sound-screening-for-pediatric-auscultation-in-noisy-field-environments
#6
Dimitra Emmanouilidou, Eric D McCollum, Daniel E Park, Mounya Elhilali
GOAL: Chest auscultations offer a non-invasive and low-cost tool for monitoring lung disease. However, they present many shortcomings including inter-listener variability, subjectivity, and vulnerability to noise and distortions. The current work proposes a computer-aided approach to process lung signals acquired in the field under adverse noisy conditions, by improving the signal quality and offering automated iden- tification of abnormal auscultations indicative of respiratory pathologies...
June 19, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28641242/arrhythmia-mechanism-and-scaling-effect-on-the-spectral-properties-of-electroanatomical-maps-with-manifold-harmonics
#7
Margarita Sanroman-Junquera, Inmaculada Mora-Jimenez, Arcadi Garcia-Alberola, Antonio J Caamano, Beatriz Trenor, Jose Luis Rojo-Alvarez
Spatial and temporal processing of intracardiac electrograms provides relevant information to support the arrhythmia ablation during electrophysiological studies. Current Cardiac Navigation Systems (CNS) and Electrocardiographic Imaging (ECGI) build detailed three-dimensional electroanatomical maps (EAM), which represent the spatial anatomical distribution of bioelectrical features, such as activation time or voltage. We present a principled methodology for spectral analysis of both EAM geometry and bioelectrical feature in CNS or ECGI, including their spectral representation, cut-off frequency, or spatial sampling rate (SSR)...
June 15, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28641213/measurement-properties-of-screening-and-diagnostic-tools-for-autism-spectrum-adults-of-mean-normal-intelligence-a-systematic-review
#8
A Baghdadli, F Russet, L Mottron
BACKGROUND: The autism spectrum (AS) is a multifaceted neurodevelopmental variant associated with lifelong challenges. Despite the relevant importance of identifying AS in adults for epidemiological, public health, and quality of life issues, the measurement properties of the tools currently used to screen and diagnose adults without intellectual disabilities (ID) have not been assessed. OBJECTIVES: This systematic review addresses the accuracy, reliability, and validity of the reported AS screening and diagnostic tools used in adults without ID...
May 17, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28641204/towards-dosimetry-for-photodynamic-diagnosis-with-the-low-level-dose-of-photosensitizer
#9
Igor Buzalewicz, Iwona Hołowacz, Agnieszka Ulatowska-Jarża, Halina Podbielska
BACKGROUND: Contemporary medicine does not concern the issue of dosimetry in photodynamic diagnosis (PDD) but follows the photosensitizer (PS) producers recommendation. Most preclinical and clinical PDD studies indicate a considerable variation in the possibility of visualization and treatment, as e.g. in case of cervix lesions. Although some of these variations can be caused by the different histological subtypes or various tumor geometries, the issue of varying PS concentration in the tumor tissue volume is definitely an important factor...
June 15, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28641188/risk-assessment-of-triclosan-released-from-sewage-treatment-plants-in-european-rivers-using-a-combination-of-risk-quotient-methodology-and-monte-carlo-simulation
#10
Vasiliki S Thomaidi, Christos Matsoukas, Athanasios S Stasinakis
Ιn this study a probabilistic risk assessment was applied to investigate the environmental risks for the European aquatic environment associated with triclosan (TCS) occurrence in treated wastewater. The concentrations of TCS in effluents of European Sewage Treatment Plants (STPs) were recorded through literature review, while toxicity data was collected for three groups of aquatic organisms (algae, Daphnia magna and fish). The ratio of Measured Environmental Concentration (MEC) and Predicted No Effect Concentration (PNEC), expressed as a Risk Quotient (RQ), was calculated for risk characterization, while Monte Carlo simulation was applied to quantify the associated uncertainty...
June 19, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28641186/composition-of-dissolved-organic-matter-dom-from-periodically-submerged-soils-in-the-three-gorges-reservoir-areas-as-determined-by-elemental-and-optical-analysis-infrared-spectroscopy-pyrolysis-gc-ms-and-thermally-assisted-hydrolysis-and-methylation
#11
Tao Jiang, Joeri Kaal, Jian Liang, Yaoling Zhang, Shiqiang Wei, Dingyong Wang, Nelson W Green
Soil-derived dissolved organic matter (DOM) has a major influence in biogeochemical processes related to contaminant dynamics and greenhouse gas emissions, due to its reactivity and its bridging role between the soil and aquatic systems. Within the Three Gorges Reservoir (TGR, China) area, an extensive water-fluctuation zone periodically submerges the surrounding soils. Here we report a characterization study of soil-derived DOM across the TGR areas, using elemental and optical analysis, infrared spectroscopy (FTIR), pyrolysis-GC-MS (Py-GC-MS) and thermally assisted hydrolysis and methylation (THM-GC-MS)...
June 19, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28641068/centric-relation-intercuspal-position-discrepancy-and-its-relationship-with-temporomandibular-disorders-a-systematic-review
#12
Antonio Jiménez-Silva, Julio Tobar-Reyes, Sheilah Vivanco-Coke, Eduardo Pastén-Castro, Hernán Palomino-Montenegro
OBJECTIVE: The objective of this study is to assess the relationship between centric relation-intercuspal position discrepancy (CR-ICP discrepancy) and temporomandibular disorders (TMDs), by systematically reviewing the literature. MATERIALS AND METHODS: A systematic research was performed between 1960 and 2016 based on electronic databases: PubMed, Cochrane Library, Medline, Embase, Scopus, EBSCOhost, BIREME, Lilacs and Scielo, including all languages. Analytical observational clinical studies were identified...
June 22, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28641057/child-anthropometry-data-quality-from-demographic-and-health-surveys-multiple-indicator-cluster-surveys-and-national-nutrition-surveys-in-the-west-central-africa-region-are-we-comparing-apples-and-oranges
#13
Daniel J Corsi, Jessica M Perkins, S V Subramanian
BACKGROUND: There has been limited work comparing survey characteristics and assessing the quality of child anthropometric data from population-based surveys. OBJECTIVE: To investigate survey characteristics and indicators of quality of anthropometric data in children aged 0-59 months from 23 countries in the West Central Africa region. METHODS: Using established methodologies and criteria to examine child age, sex, height, and weight, we conducted a comprehensive assessment and scoring of the quality of anthropometric data collected in 100 national surveys...
2017: Global Health Action
https://www.readbyqxmd.com/read/28641048/updates-and-current-challenges-in-microrna-research-for-personalized-medicine-in-ovarian-cancer
#14
Victoria Mandilaras, Mégane Vernon, Matthieu Meryet-Figuière, Katherine Karakasis, Bernard Lambert, Laurent Poulain, Amit Oza, Christophe Denoyelle, Stephanie Lheureux
Ovarian cancer (OC) is the second most common and the most lethal of the gynecological malignancies. Currently, there exists no effective screening tool for OC. MicroRNAs (miRNAs) are endogenous 18-23 nucleotide non-coding RNAs that refine gene expression. MiRNAs have been found to be aberrantly expressed in OC tumor tissue as well as detectable in biological fluids such as the blood, urine, and ascites and have been proposed as biomarkers and therapeutic targets for OC. Areas covered: This review summarizes the current knowledge regarding the application of miRNAs as diagnostic, prognostic, and predictive biomarkers in OC...
June 22, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28641036/modelling-error-distribution-in-the-ground-reaction-force-during-an-induced-acceleration-analysis-of-running-in-rear-foot-strikers
#15
Sekiya Koike, Seigo Nakaya, Hiroto Mori, Tatsuya Ishikawa, Alexander P Willmott
The objective of this study was to develop and evaluate a methodology for quantifying the contributions of modelling error terms, as well as individual joint torque, gravitational force and motion-dependent terms, to the generation of ground reaction force (GRF), whose true value can be measured with high accuracy using a force platform. Dynamic contributions to the GRF were derived from the combination of (1) the equations of motion for the individual segments, (2) the equations for constraint conditions arising from the connection of adjacent segments at joints, and (3) the equations for anatomical constraint axes at certain joints...
June 22, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28640752/argumentation-a-methodology-to-facilitate-critical-thinking
#16
Agnes Makhene
Caring is a difficult nursing activity that involves a complex nature of a human being in need of complex decision-making and problem solving through the critical thinking process. It is mandatory that critical thinking is facilitated in general and in nursing education particularly in order to render care in diverse multicultural patient care settings. This paper aims to describe how argumentation can be used to facilitate critical thinking in learners. A qualitative, exploratory and descriptive design that is contextual was used...
June 17, 2017: International Journal of Nursing Education Scholarship
https://www.readbyqxmd.com/read/28640686/prevalence-of-financial-fraud-and-scams-among-older-adults-in-the-united-states-a-systematic-review-and-meta-analysis
#17
David Burnes, Charles R Henderson, Christine Sheppard, Rebecca Zhao, Karl Pillemer, Mark S Lachs
BACKGROUND: The financial exploitation of older adults was recently recognized by the Centers for Disease Control and Prevention as a serious public health problem. Knowledge of the prevalence of elder financial exploitation is mostly limited to the category of financial abuse, which occurs in relationships involving an expectation of trust. Little is known about the other major category of elder financial exploitation-elder financial fraud and scams, which is perpetrated by strangers...
June 22, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28640595/detection-and-characterization-of-small-molecule-interactions-with-fibrillar-protein-aggregates-using-microscale-thermophoresis
#18
Emily Fisher, Yanyan Zhao, Robert Richardson, Malgorzata Janik, Alexander K Buell, Franklin I Aigbirhio, Gergely Toth
Neurodegenerative diseases such as Parkinson's and Alzheimer's disease share the pathological hallmark of fibrillar protein aggregates. The specific detection of these protein aggregates by positron emission tomography (PET) in the patient brain can yield valuable information for diagnosis and disease progression. However, the identification of novel small compounds that bind fibrillar protein aggregates has been a challenge. In this study, microscale thermophoresis (MST) was applied to assess the binding affinity of known small molecule ligands of α-synuclein fibrils, which were also tested in parallel in a Thioflavin T fluorescence competition assay for further validation...
June 22, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28638610/looking-for-the-needle-in-the-kidney-transplantation-haystack
#19
Josep M Cruzado, Edoardo Melilli
The diagnosis of acute rejection still relies on renal allograft biopsy. In fact, histological features including C4d staining can be useful to differentiate cellular and antibody-mediated acute rejection. However, the pathogenic mechanism to define the type of rejection is usually assessed by anti-HLA donor specific antibodies (DSA) monitoring. Suspicion of acute rejection is usually based on renal function deterioration. This method has low sensitivity. Moreover, creatinine increase follows graft injury and therefore the diagnosis is performed when there is an ongoing acute rejection...
February 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28637261/further-simulations-and-analyses-demonstrate-open-problems-of-phylostratigraphy
#20
Bryan A Moyers, Jianzhi Zhang
Phylostratigraphy, originally designed for gene age estimation by BLAST-based protein homology searches of sequenced genomes, has been widely used for studying patterns and inferring mechanisms of gene origination and evolution. We previously showed by computer simulation that phylostratigraphy underestimates gene age for a non-negligible fraction of genes and that the underestimation is severer for genes with certain properties such as fast evolution and short protein sequences. Consequently, many previously reported age distributions of gene properties may have been methodological artifacts rather than biological realities...
June 14, 2017: Genome Biology and Evolution
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