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https://www.readbyqxmd.com/read/28742119/doestrare-a-statistical-test-to-identify-local-enrichments-in-rare-genomic-variants-associated-with-disease
#1
Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human traits. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low frequency, rare variants must be tested by groups. This approach is then hindered by the fact that an unknown proportion of the variants could be neutral...
2017: PloS One
https://www.readbyqxmd.com/read/28736417/choosing-flourishing-toward-a-more-binocular-way-of-thinking-about-disability
#2
Erik Parens
There is a long-standing debate between people who can seem to be arguing "for" and "against" disability. Those arguing for have often been disability scholars and those arguing against have often been utilitarian philosophers. At least since the mid-2000s, some on both sides have sought to move beyond that debate, but that has proved difficult. Here I seek two small steps forward. One step is critical, and is aimed at we who line up "for" disability. Specifically, I suggest that the phrase "choosing disability" is misleading in at least two ways...
2017: Kennedy Institute of Ethics Journal
https://www.readbyqxmd.com/read/28733641/influence-of-c-terminal-truncation-of-murine-serum-amyloid-a-on-fibril-structure
#3
Matthies Rennegarbe, Inga Lenter, Angelika Schierhorn, Romy Sawilla, Christian Haupt
Amyloid A (AA) amyloidosis is a systemic protein misfolding disease affecting humans and other vertebrates. While the protein precursor in humans and mice is the acute-phase reactant serum amyloid A (SAA) 1.1, the deposited fibrils consist mainly of C-terminally truncated SAA fragments, termed AA proteins. For yet unknown reasons, phenotypic variations in the AA amyloid distribution pattern are clearly associated with specific AA proteins. Here we describe a bacterial expression system and chromatographic strategies to obtain significant amounts of C-terminally truncated fragments of murine SAA1...
July 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28730803/3d-graphene-foam-filled-elastomer-composites-with-high-thermal-and-mechanical-properties
#4
Haoming Fang, Yunhong Zhao, Yafei Zhang, Yanjuan Ren, Shulin Bai
In order to meet the increasing demands for effective heat management of electronic devices, graphene based polymeric composite is considered to be one of the candidate materials due to the ultrahigh thermal conductivity of graphene. However, poor graphene dispersion, low quality of exfoliated graphene and strong phonon scattering at graphene/matrix interface restrict the heat dissipation ability of graphene filled composites. Here, a facile and versatile approach to bond graphene foam (GF) with polydimethylsiloxane (PDMS) is proposed and the corresponding composite with considerable improvement of thermal conductivity and insulativity is fabricated...
July 21, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28715900/gangliocytic-paraganglioma-an-unusual-cause-of-upper-gastrointestinal-bleeding
#5
Yolanda Sánchez Torrijos, Rafael León Montañés, María Ángeles Mejías Manzano
Gangliocytic paraganglioma is an uncommon tumor, which is usually located in the ampulla of Vater, and may get confused in the differential diagnosis with ampuloma or GIST. Here we present a case of a patient with upper gastrointestinal bleeding as a predominant symptom, objectified by endoscopy an ulcerative polypoid mass at the juxtapilar level, with histological result of gangliocítica paraganglioma after multiple biopsies, and finally surgical resection. The interest of this case is the difficulty for diagnosing, the different treatments and prognosis that this implies, especially for the tumor location, as surgery can lead to great complications...
July 18, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28713074/barriers-and-facilitators-to-adherence-to-secondary-stroke-prevention-medications-after-stroke-analysis-of-survivors-and-caregivers-views-from-an-online-stroke-forum
#6
James Jamison, Stephen Sutton, Jonathan Mant, Anna De Simoni
OBJECTIVE: To identify barriers and facilitators of medication adherence in patients with stroke along with their caregivers. DESIGN: Qualitative thematic analysis of posts about secondary prevention medications, informed by Perceptions and Practicalities Approach. SETTING: Posts written by the UK stroke survivors and their family members taking part in the online forum of the Stroke Association, between 2004 and 2011. PARTICIPANTS: 84 participants: 49 stroke survivors, 33 caregivers, 2 not stated, identified using the keywords 'taking medication', 'pills', 'size', 'side-effects', 'routine', 'blister' as well as secondary prevention medication terms...
July 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/28711576/explaining-coexistence-of-nitrogen-fixing-and-non-fixing-rhizobia-in-legume-rhizobia-mutualism-using-mathematical-modeling
#7
G Moyano, D Marco, D Knopoff, G Torres, C Turner
In the mutualism established between legumes and soil bacteria known as rhizobia, bacteria from soil infect plants roots and reproduce inside root nodules where they fix atmospheric N2 for plant nutrition, receiving carbohydrates in exchange. Host-plant sanctions against non N2 fixing, cheating bacterial symbionts have been proposed to act in the legume-Rhizobium symbiosis, to preserve the mutualistic relationship. Sanctions include decreased rhizobial survival in nodules occupied by cheating rhizobia. Previously, a simple population model experimentally based showed that the coexistence of fixing and cheating rhizobia strains commonly found in field conditions is possible, and that the inclusion of sanctions leads to the extinction of cheating strains in soil...
July 12, 2017: Mathematical Biosciences
https://www.readbyqxmd.com/read/28708305/a-novel-variant-of-dhh-in-a-familial-case-of-46-xy-disorder-of-sex-development-insights-from-molecular-dynamics-simulations
#8
Francoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan, Reiner A Veitia
OBJECTIVE: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely candidate variant, affecting the desert hedgehog (DHH) gene...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28702491/data-on-the-time-of-integration-of-the-human-mitochondrial-pseudogenes-numts-into-the-nuclear-genome
#9
Konstantin Gunbin, Leonid Peshkin, Konstantin Popadin, Sofia Annis, Rebecca R Ackermann, Konstantin Khrapko
The data and methods presented in this article are supplementing the research article "Integration of mtDNA pseudogenes into the nuclear genome coincides with speciation of the human genus. A hypothesis", DOI: 10.1016/j.mito.2016.12.001 (Gunbin et al., 2017) [1]. Mitochondrial DNA is known to get inserted into nuclear DNA to form NUMTs, i.e. nuclear DNA pseudogenes of the mtDNA. We present here the sequences of selected NUMTs, in which time of integration can be determined with sufficient precision. We report their chromosomal positions , their position within the great ape mtDNA phylogeny, and their times of integration into the nuclear genome...
August 2017: Data in Brief
https://www.readbyqxmd.com/read/28700578/a-novel-mechanism-for-mechanosensory-based-rheotaxis-in-larval-zebrafish
#10
Pablo Oteiza, Iris Odstrcil, George Lauder, Ruben Portugues, Florian Engert
When flying or swimming, animals must adjust their own movement to compensate for displacements induced by the flow of the surrounding air or water. These flow-induced displacements can most easily be detected as visual whole-field motion with respect to the animal's frame of reference. Despite this, many aquatic animals consistently orient and swim against oncoming flows (a behaviour known as rheotaxis) even in the absence of visual cues. How animals achieve this task, and its underlying sensory basis, is still unknown...
July 12, 2017: Nature
https://www.readbyqxmd.com/read/28699320/a-three-plus-three-parameters-mechanistic-model-for-viral-filtration
#11
Prakhar Misra, Abhishek Sinha, Fasil Q Mir, Anurag S Rathore, Anupam Shukla
Viral filtration is an expensive regulatory requirement in downstream processing of monoclonal antibodies (mAbs). This process step is typically operated with an overdesigned filter in order to account for any batch to batch variability in the filter, as well as the feed characteristics. Here, we propose a simple, six-parameter mechanistic model for viral filtration where three parameters are membrane-specific while the other three depend on feed characteristics and membrane-feed interactions. Viruses are considered as passive particles which are retained by the membrane on the basis of size exclusion...
July 11, 2017: Biotechnology Progress
https://www.readbyqxmd.com/read/28698411/estimation-of-turgor-pressure-through-comparison-between-single-plant-cell-and-pressurized-shell-mechanics
#12
Pauline Durand-Smet, Nicolas Chastrette, Estelle Gauquelin, Arezki Boudaoud, Atef Asnacios
While plant growth is well known to rely on turgor pressure, it is challenging to quantify the contribution of turgor pressure to plant cell rheology. Here we used a custom-made micro-rheometer to quantify the viscoelastic behavior of isolated plant cells while varying their internal turgor pressure. To get insight into how plant cells adapt their internal pressure to the osmolarity of their medium, we compared the mechanical behavior of single plant cells to that of a simple, passive, pressurized shell: a soccer ball...
July 12, 2017: Physical Biology
https://www.readbyqxmd.com/read/28694030/antimicrobial-peptide-gold-nanoscale-therapeutic-formulation-with-high-skin-regenerative-potential
#13
Michela Comune, Akhilesh Rai, Kiran K Chereddy, Sandra Pinto, Sezin Aday, André F Ferreira, Alessandra Zonari, Josephine Blersch, Rodrigo Cunha, Ricardo Rodrigues, Juan Lerma, Pedro N Simões, Veronique Préat, Lino Ferreira
Chronic skin wounds affect ≈3% of persons aged >60years (Davies et al., 2007) [1]. These wounds are typically difficult to heal by conventional therapies and in many cases they get infected making even harder the regeneration process. The antimicrobial peptide (AMP) LL37 combines antimicrobial with pro-regenerative properties and thus represents a promising topical therapy to address both problems. Here, we investigated the wound healing potential of soluble and immobilized LL37 (LL37-conjugated gold nanoparticles, LL37-Au NPs), both in vitro (migration of keratinocytes) and in vivo (skin wound healing)...
July 7, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28686643/three-dimensional-rotating-flow-of-carbon-nanotubes-with-darcy-forchheimer-porous-medium
#14
Tasawar Hayat, Farwa Haider, Taseer Muhammad, Ahmed Alsaedi
Here we are concerned with the Darcy-Forchheimer three-dimensional flow of carbon nanotubes in a rotating frame. Flow is generated by stretching of the surface. Xue model is adopted for nanofluid transport mechanism. Results for single wall carbon nanotubes (SWCNTs) and multi wall carbon nanotubes are achieved and compared. Flow saturating porous space obeys Darcy-Forchheimer expression. Boundary layer approximations are invoked to simplify governing partial differential system. Optimal homotopy analysis method (OHAM) is utilized for solutions of governing model...
2017: PloS One
https://www.readbyqxmd.com/read/28686433/mirror-image-thymidine-discriminates-against-incorporation-of-dntp-into-dna-and-repairs-itself-by-dna-polymerases
#15
Yating Xiao, Qingju Liu, XinJing Tang, Zhenjun Yang, Li Wu, Yujian He
DNA polymerases are known to recognize preferably D-nucleotides over L-nucleotides during DNA synthesis. Here, we report that several general DNA polymerases catalyse polymerization reactions of nucleotides directed by the DNA template containing an L-thymidine (L-T). The results display that 5'-3' primer extension of natural nucleotides get to the end at chiral modification site with Taq and Phanta Max DNA polymerases, but the primer extension proceeds to the end of the template catalyzed by Deep Vent (exo-), Vent (exo-) and Therminator DNA polymerases...
July 7, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/28683815/metabolic-labeling-in-middle-down-proteomics-allows-for-investigation-of-the-dynamics-of-the-histone-code
#16
Simone Sidoli, Congcong Lu, Mariel Coradin, Xiaoshi Wang, Kelly R Karch, Chrystian Ruminowicz, Benjamin A Garcia
BACKGROUND: Middle-down mass spectrometry (MS), i.e., analysis of long (~50-60 aa) polypeptides, has become the method with the highest throughput and accuracy for the characterization of combinatorial histone posttranslational modifications (PTMs). The discovery of histone readers with multiple domains, and overall the cross talk of PTMs that decorate histone proteins, has revealed that histone marks have synergistic roles in modulating enzyme recruitment and subsequent chromatin activities...
July 6, 2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28682715/advancing-the-field-of-synthesis-scholarship-a-response-to-nicky-britten-and-colleagues
#17
Sally Thorne
Continuing the dialogue and debate on the relevance and value of qualitative metasynthesis research for the health fields, Thorne comments on some of the ideas raised by Britten and colleagues in response to her January 2017 Qualitative Health Research editorial on Metasynthetic Madness. Here she extends the debate on the terminology with which we refer to this kind of scholarly work and the kinds of research synthesis that hold potential for adding value to existing knowledge about matters of health and illness...
July 2017: Qualitative Health Research
https://www.readbyqxmd.com/read/28677873/editorial-the-politics-of-reproduction-and-parenting-cultures-procreation-pregnancy-childbirth-and-childrearing
#18
EDITORIAL
Joanna Latimer, Gareth M Thomas
'Controlling life was and is to be achieved in part by rationalizing and industrializing reproductive processes. Multiple heterogeneous and contradictory groups have had an interest in achieving such control - from elites seeking to control others to individuals, especially women, trying to get a grip on their own lives through controlling their reproduction; from eugenicists ultimately trying to control evolution to neo-Malthusians trying to control national and population size; from philanthropists and foundation executives trying to shape the future of science and human life in varied directions to reproductive scientists trying to do their research … The biomedicalization of life itself (human, plant, and animal) is the key overarching and usually taken for granted social process here' (Clarke : 273-5)...
July 2017: Sociology of Health & Illness
https://www.readbyqxmd.com/read/28677678/srsf1-dependent-nuclear-export-inhibition-of-c9orf72-repeat-transcripts-prevents-neurodegeneration-and-associated-motor-deficits
#19
Guillaume M Hautbergue, Lydia M Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom, Ya-Hui Lin, Claudia S Bauer, Jennifer E Dodd, Monika A Myszczynska, Sarah M Alam, Pierre Garneret, Jayanth S Chandran, Evangelia Karyka, Matthew J Stopford, Emma F Smith, Janine Kirby, Kathrin Meyer, Brian K Kaspar, Adrian M Isaacs, Sherif F El-Khamisy, Kurt J De Vos, Ke Ning, Mimoun Azzouz, Alexander J Whitworth, Pamela J Shaw
Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Expression of repeat transcripts and dipeptide repeat proteins trigger multiple mechanisms of neurotoxicity. How repeat transcripts get exported from the nucleus is unknown. Here, we show that depletion of the nuclear export adaptor SRSF1 prevents neurodegeneration and locomotor deficits in a Drosophila model of C9ORF72-related disease. This intervention suppresses cell death of patient-derived motor neuron and astrocytic-mediated neurotoxicity in co-culture assays...
July 5, 2017: Nature Communications
https://www.readbyqxmd.com/read/28668397/interleukin-6-c-ebp-%C3%AE-and-ppar-%C3%AE-expression-correlates-with-intramuscular-liposarcoma-growth-in-mice-the-impact-of-voluntary-physical-activity-levels
#20
Mohamad Assi, Moussa Kenawi, Mickaël Ropars, Amélie Rébillard
IL-6 is an axial cytokine overexpressed in cancer to promote growth and increase resistance to anti-cancer therapies. As the application of IL-6-targeting therapies are still limited, alternative non-aggressive and adjuvant approaches, like physical activity (PA) could be useful to reverse IL-6 effects. To get more insights into liposarcoma (LS) pathophysiology, we investigated potential molecular links between IL-6 and LS growth and we tested the impact of PA on such mechanism in an orthotopic model of intramuscular LS...
June 28, 2017: Biochemical and Biophysical Research Communications
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