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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/28641356/-tracheal-surgery
#2
Jan Volmerig, Erich Hecker
Surgery of the trachea is a specialised field in which many disciplines work jointly due to the variety of indications and the extended topography. Not only because of its particular functional importance, but also because of its complex morphology, anatomy and physiology, this organ represents a special therapeutic challenge. A variety of diseases require surgical procedures of the trachea; the therapeutic strategy is influenced both by the disease itself as well as patient-dependent parameters. Regardless of the nature of the underlying disorder, good results require a high level of expertise in airway management, a careful diagnosis and interventional planning as well as an experienced surgical team that masters extended operative techniques...
June 2017: Zentralblatt Für Chirurgie
https://www.readbyqxmd.com/read/28641323/ischaemia-reperfusion-injury-and-hyperbaric-oxygen-pathways-a-review-of-cellular-mechanisms
#3
REVIEW
Ashish Francis, Richard Baynosa
Ischaemia-induced tissue injury has wide-ranging clinical implications including myocardial infarction, stroke, compartment syndrome, ischaemic renal failure and replantation and revascularization. However, the restoration of blood flow produces a 'second hit' phenomenon, the effect of which is greater than the initial ischaemic event and characterizes ischaemia-reperfusion (IR) injury. Some examples of potential settings of IR injury include: following thrombolytic therapy for stroke, invasive cardiovascular procedures, solid organ transplantation, and major trauma resuscitation...
June 2017: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
https://www.readbyqxmd.com/read/28641305/incidence-of-autoimmune-myasthenia-gravis-in-a-health-maintenance-organization-in-buenos-aires-argentina
#4
Mariela Bettini, Marcelo Chaves, Edgardo Cristiano, Vanina Pagotto, Lucia Perez, Diego Giunta, Marcelo Rugiero
BACKGROUND: Different epidemiological studies, especially in Europe, have estimated the incidence density of myasthenia gravis (MG) to range between 1.7 and 21.3/1,000,000/person-year; however, data from regions such as Latin America are scarce. This study is aimed at estimating the incidence and prevalence of acquired MG in Buenos Aires, Argentina. METHODS: The study population comprised of affiliates of the Italian Hospital Medical Care Program, a prepaid health maintenance organization located in Buenos Aires...
June 23, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28641247/modeling-task-fmri-data-via-deep-convolutional-autoencoder
#5
Heng Huang, Xintao Hu, Yu Zhao, Milad Makkie, Qinglin Dong, Shijie Zhao, Lei Guo, Tianming Liu
Task-based fMRI (tfMRI) has been widely used to study functional brain networks under task performance. Modeling tfMRI data is challenging due to at least two problems: the lack of the ground truth of underlying neural activity and the highly complex intrinsic structure of tfMRI data. To better understand brain networks based on fMRI data, data-driven approaches have been proposed, for instance, Independent Component Analysis (ICA) and Sparse Dictionary Learning (SDL). However, both ICA and SDL only build shallow models, and they are under the strong assumption that original fMRI signal could be linearly decomposed into time series components with their corresponding spatial maps...
June 15, 2017: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/28641238/water-soluble-fraction-of-petroleum-induces-genotoxicity-and-morphological-effects-in-fat-snook-centropomus-parallelus
#6
Laila Carine Campos Medeiros, Frederico Augusto Cariello Delunardo, Larissa Novaes Simões, Marcelo Gustavo Paulino, Thais Souza Vargas, Marisa Narciso Fernandes, Rodrigo Scherer, Adriana Regina Chippari-Gomes
Petroleum hydrocarbons are one of the primary organic chemicals found in water bodies, and the water-soluble fraction of petroleum (WSFP) may be responsible for much of the toxic effects. In the present study, genotoxicity assays and histopathological analysis of the gills were analyzed for two experimental protocols: 1) Juvenile Centropomus parallelus were exposed to different concentrations of WFSP (0%, 25%, 50% and 75%) for 96h; 2) A second fish group was exposed to 50% WFSP for 168h followed by a post-exposure period for 168h in clean water (recovery)...
June 19, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28641229/effects-of-short-term-invasion-of-spartina-alterniflora-and-the-subsequent-restoration-of-native-mangroves-on-the-soil-organic-carbon-nitrogen-and-phosphorus-stock
#7
Jianxiang Feng, Jian Zhou, Liming Wang, Xiaowei Cui, Cunxin Ning, Hao Wu, Xiaoshan Zhu, Guanghui Lin
The exotic cordgrass Spartina alterniflora has severely invaded the mangrove wetlands in southern China and ecological restoration using native mangroves was conducted in an attempt to control this invasive species. In this study, the contents and pools of soil organic carbon (SOC), total nitrogen (TN) and total phosphorus (TP) were quantified to investigate the invasive effects of S. alterniflora and then to evaluate whether the ecological restoration of native mangrove could reverse those effects. S. alterniflora only showed significantly higher organic carbon content in the surface 0-10 cm of soil than in the uninvaded mudflat...
June 15, 2017: Chemosphere
https://www.readbyqxmd.com/read/28641198/combined-computational-experimental-approach-to-predict-blood-brain-barrier-bbb-permeation-based-on-green-salting-out-thin-layer-chromatography-supported-by-simple-molecular-descriptors
#8
Krzesimir Ciura, Mariusz Belka, Piotr Kawczak, Tomasz Bączek, Michał J Markuszewski, Joanna Nowakowska
The objective of this paper is to build QSRR/QSAR model for predicting the blood-brain barrier (BBB) permeability. The obtained models are based on salting-out thin layer chromatography (SOTLC) constants and calculated molecular descriptors. Among chromatographic methods SOTLC was chosen, since the mobile phases are free of organic solvent. As consequences, there are less toxic, and have lower environmental impact compared to classical reserved phases liquid chromatography (RPLC). During the study three stationary phase silica gel, cellulose plates and neutral aluminum oxide were examined...
June 3, 2017: Journal of Pharmaceutical and Biomedical Analysis
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
#9
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
#10
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/28641183/size-partitioning-and-mixing-behavior-of-trace-metals-and-dissolved-organic-matter-in-a-south-china-estuary
#11
Wenhao Wang, Min Chen, Laodong Guo, Wen-Xiong Wang
The Jiulong River estuary, located in the southeastern China, suffered from metal pollution due to industrial effluent releases. Mixing of effluent and estuarine water may have significantly affected the size distribution of trace metals and their environmental fate. In the present study, colloidal size distribution of organic matter and selected metals were quantified using asymmetric flow field-flow fractionation (AF4) and ICP-MS. We demonstrated a dominance of dissolved metals in the 1-10kDa fraction, and metals such as Cu, Zn, Ni, Co, Pb, Cd and Mn were mostly regulated by terrestrial fulvic acid...
June 19, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28641181/the-caveolae-dress-code-structure-and-signaling
#12
REVIEW
Christophe Lamaze, Nicolas Tardif, Melissa Dewulf, Stéphane Vassilopoulos, Cédric M Blouin
Over the past decade, interest in caveolae biology has peaked. These small bulb-shaped plasma membrane invaginations of 50-80nm diameter present in most cell types have been upgraded from simple membrane structures to a more complex bona fide organelle. However, although caveolae are involved in several essential cellular functions and pathologies, the underlying molecular mechanisms remain poorly defined. Following the identification of caveolins and cavins as the main caveolae constituents, recent studies have brought new insight into their structural organization as a coat...
June 19, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28641179/quantitative-study-of-the-proportion-of-the-pore-volume-of-human-fluorotic-enamel-filled-by-resin-infiltrant
#13
Frederico Barbosa de Sousa, Isabel Maria Porto Lelis, Regina Célia Bressan Queiroz Figueiredo, Andressa Cavalcanti Pires, Raquel Fernanda Gerlach
AIM: Capillarity theory predicts that the pore volume infiltrated by a liquid in a body with tubular capillaries is directly proportional to the capillary radius. The expected volume available for infiltration is the loosely bound water volume, which can be related to the capillary radii. We tested the hypothesis that the proportion of the pore volume infiltrated by resin infiltrant (Vratio(resin)) is correlated and agrees with the proportion of the pore volume with loosely bound water ( [Formula: see text] )...
June 15, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28641173/population-dynamics-of-electrogenic-microbial-communities-in-microbial-fuel-cells-started-with-three-different-inoculum-sources
#14
Shun'ichi Ishii, Shino Suzuki, Yuko Yamanaka, Angela Wu, Kenneth H Nealson, Orianna Bretschger
Microbial fuel cells (MFCs) are one of the bioelectrochemical systems that exploit microorganisms as biocatalysts to degrade organic matters and recover energy as electric power. Here, we explored how the established electrogenic microbial communities were influenced by three different inoculum sources; anaerobic sludge of the wastewater plant, rice paddy field soil, and coastal lagoon sediment. We periodically characterized both electricity generation with sucrose consumption and 16S rRNA-basis microbial community composition...
June 15, 2017: Bioelectrochemistry
https://www.readbyqxmd.com/read/28641166/care-coordination-at-a-pediatric-accountable-care-organization-aco-a-qualitative-analysis
#15
Baria Hafeez, Sophia Miller, Anup D Patel, Zachary M Grinspan
OBJECTIVE: Care coordinators may help manage care for children with chronic illness. Their role in pediatric epilepsy care is understudied. We aimed to qualitatively describe the content of a care coordination intervention for children with epilepsy. METHODS: We conducted nine semi-structured interviews and one focus group with care coordinators at a pediatric accountable care organization (ACO) in Ohio. The care coordinators used a modified version of a published care coordination checklist for children with epilepsy (Patel AD, 2014)...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28641140/effect-of-c1-inh-on-ischemia-reperfusion-injury-in-a-porcine-limb-ex-vivo-perfusion-model
#16
Mai M Abdelhafez, Jane Shaw, Damian Sutter, Jonas Schnider, Yara Banz, Hansjörg Jenni, Esther Voegelin, Mihai A Constantinescu, Robert Rieben
Revascularization of an amputated limb within 4-6h is essential to avoid extensive ischemia/reperfusion (I/R) injury leading to vascular leakage, edema and tissue necrosis. I/R injury is a pathological inflammatory condition that occurs during reperfusion of an organ or tissue after prolonged ischemia. It is characterized by a complex crosstalk between endothelial cell activation and the activation of plasma cascades. Vasculoprotective pharmacological intervention to prevent I/R injury might be an option to prolong the time window between limb amputation and successful replantation...
June 19, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28641135/variation-in-prevention-of-child-maltreatment-by-dutch-child-healthcare-professionals
#17
Simeon J A Visscher, Henk F van Stel
Child maltreatment (CM) is a common condition with a large impact on the victim and society. In the Netherlands, the preventive child healthcare (CHC) aims to protect children against such threats. However, several studies indicate that the efficacy in this area may be suboptimal for many CHC professionals. Therefore, this study aims to map the practice variation in the primary and secondary prevention of CM, by CHC physicians and nurses. This mixed-methods study used interviews to identify relevant topics and develop an online questionnaire...
June 19, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28641118/mechanisms-for-fast-cell-migration-in-complex-environments
#18
REVIEW
Pablo Vargas, Lucie Barbier, Pablo José Sáez, Matthieu Piel
Cell migration depends on a combination of the cell's intrinsic capacity to move and the proper interpretation of external cues. This multistep process enables leukocytes to travel long distances in organs in just a few hours. This fast migration is partly due to the leukocytes' high level of plasticity, which helps them to adapt to a changing environment. Here, we review recent progress in understanding the mechanisms used by leukocytes to move rapidly and efficiently in intricate anatomical landscapes. We shall focus on specific cytoskeletal rearrangements used by neutrophils and dendritic cells to migrate within confined environments...
June 19, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28641097/long-term-complications-after-hematopoietic-cell-transplantation
#19
REVIEW
Navneet S Majhail
The prevalence of autologous and allogeneic hematopoietic cell transplantation (HCT) survivors continues to increase. Among patients whose disease remains in remission for the first 2-5years after transplantation, it is estimated that approximately 80-90% will be alive over the subsequent 10years. However, the relative mortality rates of such patients continue to remain higher than those of their general population peers, with late complications contributing to significant long-term morbidity and mortality...
June 13, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28641070/elmo-proteins-transduce-g-protein-coupled-receptor-signal-to-control-reorganization-of-actin-cytoskeleton-in-chemotaxis-of-eukaryotic-cells
#20
Xuehua Xu, Tian Jin
Chemotaxis, which is chemoattractant-guided directional cell migration, plays major roles in recruitment of neutrophils, the metastasis of cancer cells, and the development of the model organism Dictyostelium discoideum. These cells share remarkable similarities in the signaling pathways by which they control chemotaxis. They all use a G protein-coupled receptor (GPCR)-mediated signal transduction pathway to sense the chemotactic gradient to guide cell migration. Diverse chemokines activate Rac through conserved GPCR signaling pathways...
June 22, 2017: Small GTPases
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