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https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#1
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28098736/foveal-exudate-and-choroidal-neovascularization-in-atypical-cases-of-multiple-evanescent-white-dot-syndrome
#2
Kevin C Chen, Marcela Marsiglia, Rosa Dolz-Marco, Sarwar Zahid, Sarah Mrejen, Jose S Pulido, Salomon Y Cohen, Benjamin Freilich, Lawrence A Yannuzzi, K Bailey Freund
PURPOSE: To describe atypical cases of multiple evanescent white dot syndrome (MEWDS) associated with foveal exudation, increased choroidal thickness, and secondary Type 2 (subretinal) neovascularization. METHODS: Four cases of atypical MEWDS were studied at a retina referral center. Patients underwent evaluation with multimodal retinal imaging, including fluorescein angiography, indocyanine green angiography, spectral-domain and enhanced depth imaging optical coherence tomography (OCT)...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28098721/the-endocannabinoid-system-and-its-role-in-eczematous-dermatoses
#3
Alexandra R Trusler, Ashley K Clark, Raja K Sivamani, Vivian Y Shi
The skin serves as the foremost barrier between the internal body and the external world, providing crucial protection against pathogens and chemical, mechanical, and ultraviolet damages. The skin is a central player in the intricate network of immune, neurologic, and endocrine systems. The endocannabinoid system (ECS) includes an extensive network of bioactive lipid mediators and their receptors, functions to modulate appetite, pain, mood, and memory, and has recently been implicated in skin homeostasis. Disruption of ECS homeostasis is implicated in the pathogenesis of several prevalent skin conditions...
January 2017: Dermatitis
https://www.readbyqxmd.com/read/28098699/in-response
#4
Alexander Y Mitrophanov, Fania Szlam, Roman M Sniecinski, Jerrold H Levy, Jaques Reifman
No abstract text is available yet for this article.
February 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28098695/in-response
#5
Alexander Y Mitrophanov, Fania Szlam, Roman M Sniecinski, Jerrold H Levy, Jaques Reifman
No abstract text is available yet for this article.
February 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28098551/seroprevalence-and-transmission-of-human-influenza-a-h5n1-virus-before-and-after-virus-reassortment-cambodia-2006-2014
#6
Sowath Ly, Paul Horwood, Malen Chan, Sareth Rith, Sopheak Sorn, Kunthea Oeung, Kunthy Nguon, Siam Chan, Phalla Y, Amy Parry, Reiko Tsuyuoka, Sovann Ly, Beat Richner, Denis Laurent, Sirenda Vong, Philippe Dussart, Philippe Buchy, Arnaud Tarantola
Thirty-five human influenza A(H5N1) cases were reported in Cambodia during 2013-2014 after emergence of a clade 1.1.2 reassortant virus. We tested 881 villagers and found 2 cases of pauci- or asymptomatic infection. Seroprevalence after emergence of the reassortant strain (0.2%) was lower than the aggregate seroprevalence of 1.3% reported in earlier studies.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098544/fatal-emmonsia-sp-infection-and-fungemia-after-orthotopic-liver-transplantation
#7
Shanthi Kappagoda, Jason Y Adams, Robert Luo, Niaz Banaei, Waldo Concepcion, Dora Y Ho
We report a fatal case of disseminated Emmonsia sp. infection in a 55-year-old man who received an orthotopic liver transplant. The patient had pneumonia and fungemia, and multisystem organ failure developed. As human habitats and the number of immunocompromised patients increase, physicians must be aware of this emerging fungal infection.
February 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28098377/quantitative-image-analysis-for-hereditary-hair-disorders
#8
Y Ramot
No abstract text is available yet for this article.
January 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28098322/flory-theory-of-randomly-branched-polymers
#9
Ralf Everaers, Alexander Y Grosberg, Michael Rubinstein, Angelo Rosa
Randomly branched polymer chains (or trees) are a classical subject of polymer physics with connections to the theory of magnetic systems, percolation and critical phenomena. More recently, the model has been reconsidered for RNA, supercoiled DNA and the crumpling of topologically-constrained polymers. While solvable in the ideal case, little is known exactly about randomly branched polymers with volume interactions. Flory theory provides a simple, unifying description for a wide range of branched systems, including isolated trees in good and θ-solvent, and tree melts...
January 18, 2017: Soft Matter
https://www.readbyqxmd.com/read/28098308/a-core-multiple-shell-nanostructure-enabling-concurrent-upconversion-and-quantum-cutting-for-photon-management
#10
Wei Shao, Guanying Chen, Tymish Y Ohulchanskyy, Chunhui Yang, Hans Ågren, Paras N Prasad
Photon management enables the manipulation of the number of input photons by conversion of two or more light quanta into one (upconversion) or vice versa (quantum cutting). Simultaneous realization of both these processes in a single unit provides unique opportunities of efficient utilization of photons throughout a broad spectral range. Yet, concurrent realization of these two parallel optical processes in one single unit remains elusive, limiting its impact on many existing or possible future applications such as for panchromatic photovoltaics...
January 18, 2017: Nanoscale
https://www.readbyqxmd.com/read/28098291/investigation-into-the-bioavailability-of-milk-protein-derived-peptides-with-dipeptidyl-peptidase-iv-inhibitory-activity-using-caco-2-cell-monolayers
#11
Isabelle M E Lacroix, Xiu-Min Chen, David D Kitts, Eunice C Y Li-Chan
In recent years, peptides derived from a variety of dietary proteins have been reported to exhibit inhibitory activity against the dipeptidyl-peptidase IV (DPP-IV) enzyme, a target in the management of type 2 diabetes. While much attention has been given to the production and identification of peptides with DPP-IV inhibitory activity from food proteins, particularly dairy proteins, little is known on the bioavailability of these molecules. In this study, the stability and transport of five previously identified milk-derived peptides (LKPTPEGDL, LPYPY, IPIQY, IPI and WR) and a whey protein isolate (WPI) digest with DPP-IV-inhibitory activity were investigated using Caco-2 cell monolayers as a model system for human intestinal absorption...
January 18, 2017: Food & Function
https://www.readbyqxmd.com/read/28098251/unsaturated-lipid-bodies-as-a-hallmark-of-inflammation-studied-by-raman-2d-and-3d-microscopy
#12
K Czamara, K Majzner, A Selmi, M Baranska, Y Ozaki, A Kaczor
Endothelial HMEC-1 cells incubated with pro-inflammatory cytokine TNF-α for 6 and 24 hours were studied as a model of inflammation using Raman imaging. Striking changes in distribution, composition and concentration of cellular lipids were observed after exposure to TNF-α compared to the control. In particular, 3D Raman imaging revealed a significant increase in the amount of lipid entities formed under inflammation. Lipid bodies were randomly distributed in the cytoplasm and two types of droplets were assembled: more saturated one, in spectral characteristics resembling phosphatidylcholine and saturated cholesteryl esters, observed also in the control, and highly unsaturated one, containing also cholesterols, being a hallmark of inflamed cells...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098213/tunable-diffraction-free-array-in-nonlinear-photonic-crystal
#13
Dongmei Liu, Dunzhao Wei, Yong Zhang, Zhenhua Chen, Rui Ni, Bo Yang, Xiaopeng Hu, Y Q Qin, S N Zhu, Min Xiao
Diffraction-free beams have attracted increasing research interests because of their unique performances and broad applications in various fields. Although many methods have been developed to produce such beams, it is still challenging to realize a tunable non-diffracting beam. Here, we report the generation of a tunable diffraction-free array through second-harmonic generation in a nonlinear photonic crystal, i.e., a 2D periodically-poled LiTaO3 crystal. In such a crystal, the second-harmonic wave is engineered by properly designing the domain structure based on the Huygens-Fresnel principle...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098211/deep-sea-crustacean-trawling-fisheries-in-portugal-quantification-of-effort-and-assessment-of-landings-per-unit-effort-using-a-vessel-monitoring-system-vms
#14
Juan Bueno-Pardo, Sofia P Ramalho, Ana García-Alegre, Mariana Morgado, Rui P Vieira, Marina R Cunha, Henrique Queiroga
Mapping and quantifying bottom trawling fishing pressure on the seafloor is pivotal to understand its effects on deep-sea benthic habitats. Using data from the Vessel Monitoring System of crustacean trawlers along the Portuguese margin, we have identified the most exploited areas and characterized the most targeted habitats and water depths. We estimated a total trawling effort of 69596, 66766, and 63427 h y(-1) for the years 2012, 2013, and 2014 respectively which, considering the total landings estimated for this gear, yield values of 20...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098206/protein-kinase-c-%C3%AE-signaling-is-required-for-dietary-prebiotic-induced-strengthening-of-intestinal-epithelial-barrier-function
#15
Richard Y Wu, Majd Abdullah, Pekka Määttänen, Ana Victoria C Pilar, Erin Scruten, Kathene C Johnson-Henry, Scott Napper, Catherine O'Brien, Nicola L Jones, Philip M Sherman
Prebiotics are non-digestible oligosaccharides that promote the growth of beneficial gut microbes, but it is unclear whether they also have direct effects on the intestinal mucosal barrier. Here we demonstrate two commercial prebiotics, inulin and short-chain fructo-oligosaccharide (scFOS), when applied onto intestinal epithelia in the absence of microbes, directly promote barrier integrity to prevent pathogen-induced barrier disruptions. We further show that these effects involve the induction of select tight junction (TJ) proteins through a protein kinase C (PKC) δ-dependent mechanism...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28098162/novel-genetic-loci-associated-with-hippocampal-volume
#16
Derrek P Hibar, Hieab H H Adams, Neda Jahanshad, Ganesh Chauhan, Jason L Stein, Edith Hofer, Miguel E Renteria, Joshua C Bis, Alejandro Arias-Vasquez, M Kamran Ikram, Sylvane Desrivières, Meike W Vernooij, Lucija Abramovic, Saud Alhusaini, Najaf Amin, Micael Andersson, Konstantinos Arfanakis, Benjamin S Aribisala, Nicola J Armstrong, Lavinia Athanasiu, Tomas Axelsson, Ashley H Beecham, Alexa Beiser, Manon Bernard, Susan H Blanton, Marc M Bohlken, Marco P Boks, Janita Bralten, Adam M Brickman, Owen Carmichael, M Mallar Chakravarty, Qiang Chen, Christopher R K Ching, Vincent Chouraki, Gabriel Cuellar-Partida, Fabrice Crivello, Anouk Den Braber, Nhat Trung Doan, Stefan Ehrlich, Sudheer Giddaluru, Aaron L Goldman, Rebecca F Gottesman, Oliver Grimm, Michael E Griswold, Tulio Guadalupe, Boris A Gutman, Johanna Hass, Unn K Haukvik, David Hoehn, Avram J Holmes, Martine Hoogman, Deborah Janowitz, Tianye Jia, Kjetil N Jørgensen, Nazanin Karbalai, Dalia Kasperaviciute, Sungeun Kim, Marieke Klein, Bernd Kraemer, Phil H Lee, David C M Liewald, Lorna M Lopez, Michelle Luciano, Christine Macare, Andre F Marquand, Mar Matarin, Karen A Mather, Manuel Mattheisen, David R McKay, Yuri Milaneschi, Susana Muñoz Maniega, Kwangsik Nho, Allison C Nugent, Paul Nyquist, Loes M Olde Loohuis, Jaap Oosterlaan, Martina Papmeyer, Lukas Pirpamer, Benno Pütz, Adaikalavan Ramasamy, Jennifer S Richards, Shannon L Risacher, Roberto Roiz-Santiañez, Nanda Rommelse, Stefan Ropele, Emma J Rose, Natalie A Royle, Tatjana Rundek, Philipp G Sämann, Arvin Saremi, Claudia L Satizabal, Lianne Schmaal, Andrew J Schork, Li Shen, Jean Shin, Elena Shumskaya, Albert V Smith, Emma Sprooten, Lachlan T Strike, Alexander Teumer, Diana Tordesillas-Gutierrez, Roberto Toro, Daniah Trabzuni, Stella Trompet, Dhananjay Vaidya, Jeroen Van der Grond, Sven J Van der Lee, Dennis Van der Meer, Marjolein M J Van Donkelaar, Kristel R Van Eijk, Theo G M Van Erp, Daan Van Rooij, Esther Walton, Lars T Westlye, Christopher D Whelan, Beverly G Windham, Anderson M Winkler, Katharina Wittfeld, Girma Woldehawariat, Christiane Wolf, Thomas Wolfers, Lisa R Yanek, Jingyun Yang, Alex Zijdenbos, Marcel P Zwiers, Ingrid Agartz, Laura Almasy, David Ames, Philippe Amouyel, Ole A Andreassen, Sampath Arepalli, Amelia A Assareh, Sandra Barral, Mark E Bastin, Diane M Becker, James T Becker, David A Bennett, John Blangero, Hans van Bokhoven, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Han G Brunner, Randy L Buckner, Jan K Buitelaar, Kazima B Bulayeva, Wiepke Cahn, Vince D Calhoun, Dara M Cannon, Gianpiero L Cavalleri, Ching-Yu Cheng, Sven Cichon, Mark R Cookson, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Michael Czisch, Anders M Dale, Gareth E Davies, Anton J M De Craen, Eco J C De Geus, Philip L De Jager, Greig I De Zubicaray, Ian J Deary, Stéphanie Debette, Charles DeCarli, Norman Delanty, Chantal Depondt, Anita DeStefano, Allissa Dillman, Srdjan Djurovic, Gary Donohoe, Wayne C Drevets, Ravi Duggirala, Thomas D Dyer, Christian Enzinger, Susanne Erk, Thomas Espeseth, Iryna O Fedko, Guillén Fernández, Luigi Ferrucci, Simon E Fisher, Debra A Fleischman, Ian Ford, Myriam Fornage, Tatiana M Foroud, Peter T Fox, Clyde Francks, Masaki Fukunaga, J Raphael Gibbs, David C Glahn, Randy L Gollub, Harald H H Göring, Robert C Green, Oliver Gruber, Vilmundur Gudnason, Sebastian Guelfi, Asta K Håberg, Narelle K Hansell, John Hardy, Catharina A Hartman, Ryota Hashimoto, Katrin Hegenscheid, Andreas Heinz, Stephanie Le Hellard, Dena G Hernandez, Dirk J Heslenfeld, Beng-Choon Ho, Pieter J Hoekstra, Wolfgang Hoffmann, Albert Hofman, Florian Holsboer, Georg Homuth, Norbert Hosten, Jouke-Jan Hottenga, Matthew Huentelman, Hilleke E Hulshoff Pol, Masashi Ikeda, Clifford R Jack, Mark Jenkinson, Robert Johnson, Erik G Jönsson, J Wouter Jukema, René S Kahn, Ryota Kanai, Iwona Kloszewska, David S Knopman, Peter Kochunov, John B Kwok, Stephen M Lawrie, Hervé Lemaître, Xinmin Liu, Dan L Longo, Oscar L Lopez, Simon Lovestone, Oliver Martinez, Jean-Luc Martinot, Venkata S Mattay, Colm McDonald, Andrew M McIntosh, Francis J McMahon, Katie L McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Sebastian Mohnke, Grant W Montgomery, Derek W Morris, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Michael A Nalls, Matthias Nauck, Thomas E Nichols, Wiro J Niessen, Markus M Nöthen, Lars Nyberg, Kazutaka Ohi, Rene L Olvera, Roel A Ophoff, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Steven G Potkin, Bruce M Psaty, Simone Reppermund, Marcella Rietschel, Joshua L Roffman, Nina Romanczuk-Seiferth, Jerome I Rotter, Mina Ryten, Ralph L Sacco, Perminder S Sachdev, Andrew J Saykin, Reinhold Schmidt, Helena Schmidt, Peter R Schofield, Sigurdur Sigursson, Andrew Simmons, Andrew Singleton, Sanjay M Sisodiya, Colin Smith, Jordan W Smoller, Hilkka Soininen, Vidar M Steen, David J Stott, Jessika E Sussmann, Anbupalam Thalamuthu, Arthur W Toga, Bryan J Traynor, Juan Troncoso, Magda Tsolaki, Christophe Tzourio, Andre G Uitterlinden, Maria C Valdés Hernández, Marcel Van der Brug, Aad van der Lugt, Nic J A van der Wee, Neeltje E M Van Haren, Dennis van 't Ent, Marie-Jose Van Tol, Badri N Vardarajan, Bruno Vellas, Dick J Veltman, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Thomas H Wassink, Michael E Weale, Daniel R Weinberger, Michael W Weiner, Wei Wen, Eric Westman, Tonya White, Tien Y Wong, Clinton B Wright, Ronald H Zielke, Alan B Zonderman, Nicholas G Martin, Cornelia M Van Duijn, Margaret J Wright, W T Longstreth, Gunter Schumann, Hans J Grabe, Barbara Franke, Lenore J Launer, Sarah E Medland, Sudha Seshadri, Paul M Thompson, M Arfan Ikram
The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28098156/sixfold-improved-single-particle-measurement-of-the-magnetic-moment-of-the-antiproton
#17
H Nagahama, C Smorra, S Sellner, J Harrington, T Higuchi, M J Borchert, T Tanaka, M Besirli, A Mooser, G Schneider, K Blaum, Y Matsuda, C Ospelkaus, W Quint, J Walz, Y Yamazaki, S Ulmer
Our current understanding of the Universe comes, among others, from particle physics and cosmology. In particle physics an almost perfect symmetry between matter and antimatter exists. On cosmological scales, however, a striking matter/antimatter imbalance is observed. This contradiction inspires comparisons of the fundamental properties of particles and antiparticles with high precision. Here we report on a measurement of the g-factor of the antiproton with a fractional precision of 0.8 parts per million at 95% confidence level...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28098153/mecp2-regulates-cortical-plasticity-underlying-a-learned-behaviour-in-adult-female-mice
#18
Keerthi Krishnan, Billy Y B Lau, Gabrielle Ewall, Z Josh Huang, Stephen D Shea
Neurodevelopmental disorders are marked by inappropriate synaptic connectivity early in life, but how disruption of experience-dependent plasticity contributes to cognitive and behavioural decline in adulthood is unclear. Here we show that pup gathering behaviour and associated auditory cortical plasticity are impaired in female Mecp2(het) mice, a model of Rett syndrome. In response to learned maternal experience, Mecp2(het) females exhibited transient changes to cortical inhibitory networks typically associated with limited plasticity...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28098136/exome-and-genome-sequencing-of-nasopharynx-cancer-identifies-nf-%C3%AE%C2%BAb-pathway-activating-mutations
#19
Yvonne Y Li, Grace T Y Chung, Vivian W Y Lui, Ka-Fai To, Brigette B Y Ma, Chit Chow, John K S Woo, Kevin Y Yip, Jeongsun Seo, Edwin P Hui, Michael K F Mak, Maria Rusan, Nicole G Chau, Yvonne Y Y Or, Marcus H N Law, Peggy P Y Law, Zoey W Y Liu, Hoi-Lam Ngan, Pok-Man Hau, Krista R Verhoeft, Peony H Y Poon, Seong-Keun Yoo, Jong-Yeon Shin, Sau-Dan Lee, Samantha W M Lun, Lin Jia, Anthony W H Chan, Jason Y K Chan, Paul B S Lai, Choi-Yi Fung, Suet-Ting Hung, Lin Wang, Ann Margaret V Chang, Simion I Chiosea, Matthew L Hedberg, Sai-Wah Tsao, Andrew C van Hasselt, Anthony T C Chan, Jennifer R Grandis, Peter S Hammerman, Kwok-Wai Lo
Nasopharyngeal carcinoma (NPC) is an aggressive head and neck cancer characterized by Epstein-Barr virus (EBV) infection and dense lymphocyte infiltration. The scarcity of NPC genomic data hinders the understanding of NPC biology, disease progression and rational therapy design. Here we performed whole-exome sequencing (WES) on 111 micro-dissected EBV-positive NPCs, with 15 cases subjected to further whole-genome sequencing (WGS), to determine its mutational landscape. We identified enrichment for genomic aberrations of multiple negative regulators of the NF-κB pathway, including CYLD, TRAF3, NFKBIA and NLRC5, in a total of 41% of cases...
January 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28098067/renal-function-in-type-2-diabetes-following-gastric-bypass
#20
Adrian T Billeter, Stefan Kopf, Martin Zeier, Katharina Scheurlen, Lars Fischer, Thilo M Schulte, Hannes G Kenngott, Barbara Israel, Philipp Knefeli, Markus W Büchler, Peter P Nawroth, Beat P Müller-Stich
BACKGROUND: Metabolic surgery for obese patients with type 2 diabetes (T2D) yields short- and long-term remission rates of 60-90%. Its effects on diabetesassociated complications such as neuropathy and nephropathy have not been well studied to date. Hardly any data are available on this subject with respect to moderately obese patients (body mass index [BMI] 25-35 kg/m2) with insulin-dependent T2D. Our previous studies suggest that, in such patients, treatment with a Roux-en-Y gastric bypass (RYGB) improves diabetic neuropathy...
December 9, 2016: Deutsches Ärzteblatt International
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