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https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#1
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29691332/clinically-relevant-plasmid-host-interactions-indicate-that-transcriptional-and-not-genomic-modifications-ameliorate-fitness-costs-of-klebsiella-pneumoniae-carbapenemase-carrying-plasmids
#2
Michelle M C Buckner, Howard T H Saw, Rachael N Osagie, Alan McNally, Vito Ricci, Matthew E Wand, Neil Woodford, Alasdair Ivens, Mark A Webber, Laura J V Piddock
The rapid dissemination of antimicrobial resistance (AMR) around the globe is largely due to mobile genetic elements, such as plasmids. They confer resistance to critically important drugs, including extended-spectrum beta-lactams, carbapenems, and colistin. Large, complex resistance plasmids have evolved alongside their host bacteria. However, much of the research on plasmid-host evolution has focused on small, simple laboratory plasmids in laboratory-adapted bacterial hosts. These and other studies have documented mutations in both host and plasmid genes which occur after plasmid introduction to ameliorate fitness costs of plasmid carriage...
April 24, 2018: MBio
https://www.readbyqxmd.com/read/29690166/the-type-specimens-of-bees-hymenoptera-apoidea-deposited-in-the-zoological-institute-of-the-russian-academy-of-sciences-st-petersburg-contribution-i-family-halictidae-genus-lasioglossum-curtis-1833
#3
Yulia V Astafurova, Maxim Yu Proshchalykin
The type specimens of Lasioglossum Curtis, 1833 deposited in the Zoological Institute, Russian Academy of Sciences (St. Petersburg) are reviewed. Primary types of 69 taxa are illustrated and detailed information is provided (taxa include 33 described by F. Morawitz; 16 by P. Blüthgen; 15 by Yu. Pesenko (one of them with N. Davydova); four by E. Eversmann; and one by T.D.A. Cockerell). Lectotypes are designated here for the following eleven nominal taxa: Halictus anguliceps Morawitz, 1893, H. corvinus Morawitz, 1877, H...
April 13, 2018: Zootaxa
https://www.readbyqxmd.com/read/29690072/review-of-anaphes-haliday-hymenoptera-mymaridae-with-key-to-species-in-europe-and-a-world-catalogue
#4
John T Huber, Csaba ThurÓczy
The Walter Soyka species of Anaphes Haliday are reviewed and placed in context among the remaining world species. An analysis of his descriptions and identification keys is presented, and discussed in light of a broader interpretation of intraspecific variation in Anaphes species than Soyka accepted. An illustrated diagnosis of Anaphes is given and the species in Europe considered to be valid are keyed-14 species in Anaphes (Anaphes) and 15 species in Anaphes (Patasson). The 244 names of world Anaphes are tabulated in various ways and their type localities, if known, are mapped...
January 29, 2018: Zootaxa
https://www.readbyqxmd.com/read/29689894/review-of-the-leafhopper-genus-penthimia-germar-hemiptera-cicadellidae-deltocephalinae-from-the-indian-subcontinent-with-description-of-seven-new-species
#5
M Shobharani, C A Viraktamath, M D Webb
Species of the leafhopper genus Penthimia Germar known from the Indian subcontinent are reviewed based on the examination of type specimens. Seven new species of the genus, Penthimia curvata sp. nov. (Karnataka: Bandipur), P. meghalayensis sp. nov. (Meghalaya: Nangpoh), P. neoattenuata sp. nov. (India: Tamil Nadu), P. ribhoi sp. nov. (India: Meghalaya), P. sahyadrica sp. nov. (Karnataka: Dharmasthala, Agumbe; Kerala: Thekkady), P. spiculata sp. nov. (Karnataka: Nagarahole) and P. tumida sp. nov. (Tamil Nadu: Ootacamund; Kerala: Munnar) are described...
January 2, 2018: Zootaxa
https://www.readbyqxmd.com/read/29689780/thelastoma-vanwaerebekei-n-sp-oxyurida-thelastomatidae-a-parasite-of-gymnetis-litigiosa-coleoptera-scarabaeidae-from-uruguay
#6
MarÍa noÉ Dambrosi Orsini, Natalia Cuellar, Juan C Rondan DueÑas, Cristina N Gardenal, Marcelo E Doucet, Paola Lax
Thelastoma vanwaerebekei n. sp. was extracted from the hindgut of Gymnetis litigiosa. The new species is included in the group of species with females having the excretory pore at the same level as the pharyngeal basal bulb (or slightly anteriorly), long tail length (approximately 30% of total body length) and males without spicules. Females of T. vanwaerebekei n. sp. differ from those of T. madecassum in tail shape (filiform and conical, respectively). They differ from T. basiri, T. imphalensis and T. dessetae in the morphology of the anterior region...
January 23, 2018: Zootaxa
https://www.readbyqxmd.com/read/29689632/a-crossover-comparison-of-standard-and-telerobotic-approaches-to-prenatal-sonography
#7
Scott J Adams, Brent E Burbridge, Andreea Badea, Nadine Kanigan, Luis Bustamante, Paul Babyn, Ivar Mendez
OBJECTIVES: To determine the feasibility of a telerobotic approach to remotely perform prenatal sonographic examinations. METHODS: Thirty participants were prospectively recruited. Participants underwent a limited examination (assessing biometry, placental location, and amniotic fluid; n = 20) or a detailed examination (biometry, placental location, amniotic fluid, and fetal anatomic survey; n = 10) performed with a conventional ultrasound system. This examination was followed by an equivalent examination performed with a telerobotic ultrasound system, which enabled sonographers to remotely control all ultrasound settings and fine movements of the ultrasound transducer from a distance...
April 24, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29689246/il-13-is-produced-by-tumor-cells-in-breast-implant-associated-anaplastic-large-cell-lymphoma-implications-for-pathogenesis
#8
Marshall E Kadin, John Morgan, Haiying Xu, Alan L Epstein, David Sieber, Bradley A Hubbard, William P Adams, Carlos E Bacchi, Joao C S Goes, Mark W Clemens, L Jeffrey Medeiros, Roberto N Miranda
More than 500 women worldwide have developed a CD30+ T-cell lymphoma around breast implants, strongly suggesting a cause and effect relationship, and designated as breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). The mechanism of lymphomagenesis is unknown. Recently, a bacterial biofilm containing gram negative bacilli was discovered on the surface of breast implants associated with ALCL. We and others have described overexpression of the proto-oncogene JUNB and mutations of JAK1/2, TP53 and STAT3 in BIA-ALCL...
April 21, 2018: Human Pathology
https://www.readbyqxmd.com/read/29688333/whole-exome-sequencing-and-immune-profiling-of-early-stage-lung-adenocarcinoma-with-fully-annotated-clinical-follow-up
#9
H Kadara, M Choi, J Zhang, E R Parra, J Rodriguez-Canales, S G Gaffney, Z Zhao, C Behrens, J Fujimoto, C Chow, Y Yoo, N Kalhor, C Moran, D Rimm, S Swisher, D L Gibbons, J Heymach, E Kaftan, J P Townsend, T J Lynch, J Schlessinger, J Lee, R P Lifton, I I Wistuba, R S Herbst
No abstract text is available yet for this article.
April 1, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29688290/gestational-age-is-dimensionally-associated-with-structural-brain-network-abnormalities-across-development
#10
Rula Nassar, Antonia N Kaczkurkin, Cedric Huchuan Xia, Aristeidis Sotiras, Marieta Pehlivanova, Tyler M Moore, Angel Garcia de La Garza, David R Roalf, Adon F G Rosen, Scott A Lorch, Kosha Ruparel, Russell T Shinohara, Christos Davatzikos, Ruben C Gur, Raquel E Gur, Theodore D Satterthwaite
Prematurity is associated with diverse developmental abnormalities, yet few studies relate cognitive and neurostructural deficits to a dimensional measure of prematurity. Leveraging a large sample of children, adolescents, and young adults (age 8-22 years) studied as part of the Philadelphia Neurodevelopmental Cohort, we examined how variation in gestational age impacted cognition and brain structure later in development. Participants included 72 preterm youth born before 37 weeks' gestation and 206 youth who were born at term (37 weeks or later)...
April 21, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29688198/-hybrid-surgical-treatment-of-a-multilevel-lesion-of-lower-limb-arteries
#11
P D Puzdriak, V V Shlomin, E A Shloĭdo, M A Ivanov, Iu P Didenko, I V Kas'ianov, P B Bondarenko, N Iu Grebenkina, T B Rakhmatillaev
The study was aimed at assessing immediate postoperative and remote results of hybrid surgical treatment of patients with a multilevel lesion of lower-limb arteries. Described herein is the authors' experience with simultaneous hybrid surgical management of 48 patients, including 43 subjects with a multilevel lesion of arteries of the lower extremities. There were 40 men and 8 women, with the average age amounting to 65.8±7.9 years. Of these, 30 patients suffered from stage II-b chronic arterial insufficiency (CAI), 11 had stage III CAI and 7 had stage IV CAI according to A...
2018: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/29687958/genetic-diversity-of-bcov-in-brazilian-cattle-herds
#12
Adeline de Mira Fernandes, Paulo E Brandão, Michele Dos Santos Lima, Maira de Souza Nunes Martins, Thais G da Silva, Vivian da Silva Cardoso Pinto, Larissa T de Paula, Marta Elisabete S Vicente, Liria H Okuda, Edviges M Pituco
Bovine coronavirus (BCoV) is one of the main aetiological agents of gastroenteritis in calves, causing significant economic damage to livestock. This study aims to characterise BCoV genetically on the basis of the N gene. A total of 114 faecal samples from beef and dairy calves with or without clinical symptoms of diarrhoea from five Brazilian states (São Paulo, Minas Gerais, Santa Catarina, Mato Grosso and Bahia) were evaluated between 2008 and 2015 by technique of Semi-nested RT-PCR for gene N and genealogical analysis...
April 24, 2018: Veterinary Medicine and Science
https://www.readbyqxmd.com/read/29687287/quantifying-the-connections-linkages-between-land-use-and-water-in-the-kathmandu-valley-nepal
#13
Jeffrey C Davids, Martine M Rutten, Ram Devi T Shah, Deep N Shah, Nischal Devkota, Petra Izeboud, Anusha Pandey, Nick van de Giesen
Land development without thoughtful water supply planning can lead to unsustainability. In practice, management of our lands and waters is often unintegrated. We present new land-use, ecological stream health, water quality, and streamflow data from nine perennial watersheds in the Kathmandu Valley, Nepal, in the 2016 monsoon (i.e., August and September) and 2017 pre-monsoon (i.e., April and May) periods. Our goal was to improve understanding of the longitudinal linkages between land-use and water. At a total of 38 locations, the Rapid Stream Assessment (RSA) protocol was used to characterize stream ecology, basic water quality parameters were collected with a handheld WTW multi-parameter meter, and stream flow was measured with a SonTek FlowTracker Acoustic Doppler Velocimeter...
April 23, 2018: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/29687258/novel-improved-grading-system-s-for-idh-mutant-astrocytic-gliomas
#14
Mitsuaki Shirahata, Takahiro Ono, Damian Stichel, Daniel Schrimpf, David E Reuss, Felix Sahm, Christian Koelsche, Annika Wefers, Annekathrin Reinhardt, Kristin Huang, Philipp Sievers, Hiroaki Shimizu, Hiroshi Nanjo, Yusuke Kobayashi, Yohei Miyake, Tomonari Suzuki, Jun-Ichi Adachi, Kazuhiko Mishima, Atsushi Sasaki, Ryo Nishikawa, Melanie Bewerunge-Hudler, Marina Ryzhova, Oksana Absalyamova, Andrey Golanov, Peter Sinn, Michael Platten, Christine Jungk, Frank Winkler, Antje Wick, Daniel Hänggi, Andreas Unterberg, Stefan M Pfister, David T W Jones, Martin van den Bent, Monika Hegi, Pim French, Brigitta G Baumert, Roger Stupp, Thierry Gorlia, Michael Weller, David Capper, Andrey Korshunov, Christel Herold-Mende, Wolfgang Wick, David N Louis, Andreas von Deimling
According to the 2016 World Health Organization Classification of Tumors of the Central Nervous System (2016 CNS WHO), IDH-mutant astrocytic gliomas comprised WHO grade II diffuse astrocytoma, IDH-mutant (AIIIDHmut ), WHO grade III anaplastic astrocytoma, IDH-mutant (AAIIIIDHmut ), and WHO grade IV glioblastoma, IDH-mutant (GBMIDHmut ). Notably, IDH gene status has been made the major criterion for classification while the manner of grading has remained unchanged: it is based on histological criteria that arose from studies which antedated knowledge of the importance of IDH status in diffuse astrocytic tumor prognostic assessment...
April 23, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29687214/glioma-related-seizures-in-relation-to-histopathological-subtypes-a-report-from-the-glioma-international-case-control-study
#15
Shala G Berntsson, Ryan T Merrell, E Susan Amirian, Georgina N Armstrong, Daniel Lachance, Anja Smits, Renke Zhou, Daniel I Jacobs, Margaret R Wrensch, Sara H Olson, Dora Il'yasova, Elizabeth B Claus, Jill S Barnholtz-Sloan, Joellen Schildkraut, Siegal Sadetzki, Christoffer Johansen, Richard S Houlston, Robert B Jenkins, Jonine L Bernstein, Rose Lai, Sanjay Shete, Christopher I Amos, Melissa L Bondy, Beatrice S Melin
BACKGROUND: The purpose of this study was to evaluate the distribution of glioma-related seizures and seizure control at the time of tumor diagnosis with respect to tumor histologic subtypes, tumor treatment and patient characteristics, and to compare seizure history preceding tumor diagnosis (or study enrollment) between glioma patients and healthy controls. METHODS: The Glioma International Case Control study (GICC) risk factor questionnaire collected information on demographics, past medical/medication history, and occupational history...
April 23, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29686860/traditional-methods-v-new-technologies-dilemmas-for-dietary-assessment-in-large-scale-nutrition-surveys-and-studies-a-report-following-an-international-panel-discussion-at-the-9th-international-conference-on-diet-and-activity-methods-icdam9-brisbane-3-september
#16
B Amoutzopoulos, T Steer, C Roberts, J E Cade, C J Boushey, C E Collins, E Trolle, E J de Boer, N Ziauddeen, C van Rossum, E Buurma, D Coyle, P Page
The aim of the present paper is to summarise current and future applications of dietary assessment technologies in nutrition surveys in developed countries. It includes the discussion of key points and highlights of subsequent developments from a panel discussion to address strengths and weaknesses of traditional dietary assessment methods (food records, FFQ, 24 h recalls, diet history with interviewer-assisted data collection) v. new technology-based dietary assessment methods (web-based and mobile device applications)...
2018: Journal of Nutritional Science
https://www.readbyqxmd.com/read/29686532/soluble-interleukin-2-receptor-a-potential-marker-for-monitoring-disease-activity-in-igg4-related-disease
#17
A F Karim, L E M Eurelings, R D Bansie, P M van Hagen, J A M van Laar, W A Dik
Background: IgG4-related disease (IgG4-RD) is a fibroinflammatory condition. T-cells play a crucial role in the pathogenesis, and therefore, serum soluble interleukin-2 receptor (sIL-2R) may be a potential biomarker. Method: We studied the levels of sIL-2R in 26 histologically proven IgG4-RD patients with available serum sIL-2R and compared them to those in newly diagnosed and untreated sarcoidosis patients ( n = 78) and controls ( n = 101) and the serum sIL-2R levels in patients after treatment of IgG4-RD ( n = 15)...
2018: Mediators of Inflammation
https://www.readbyqxmd.com/read/29686408/anisotropic-magnetotransport-and-extremely-large-magnetoresistance-in-nbas-2-single-crystals
#18
G Peramaiyan, Raman Sankar, I Panneer Muthuselvam, Wei-Li Lee
We report the extremely large magnetoresistance and anisotropic magnetoresistance in a non-magnetic semimetallic NbAs2 single crystal. Unsaturated transverse XMR with quadratic field dependence has been observed to be ~3 × 105 % at 2 K and 15 T. Up to 12.5 K, clear Shubnikov de Haas (SdH) quantum oscillations were observed from which two distinct Fermi pockets were identified. The corresponding quantum electronic parameters such as effective cyclotron mass and Dingle temperature were obtained using Lifshitz-Kosevich formula...
April 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29686394/evidence-for-prevalent-z-6-magic-number-in-neutron-rich-carbon-isotopes
#19
D T Tran, H J Ong, G Hagen, T D Morris, N Aoi, T Suzuki, Y Kanada-En'yo, L S Geng, S Terashima, I Tanihata, T T Nguyen, Y Ayyad, P Y Chan, M Fukuda, H Geissel, M N Harakeh, T Hashimoto, T H Hoang, E Ideguchi, A Inoue, G R Jansen, R Kanungo, T Kawabata, L H Khiem, W P Lin, K Matsuta, M Mihara, S Momota, D Nagae, N D Nguyen, D Nishimura, T Otsuka, A Ozawa, P P Ren, H Sakaguchi, C Scheidenberger, J Tanaka, M Takechi, R Wada, T Yamamoto
The nuclear shell structure, which originates in the nearly independent motion of nucleons in an average potential, provides an important guide for our understanding of nuclear structure and the underlying nuclear forces. Its most remarkable fingerprint is the existence of the so-called magic numbers of protons and neutrons associated with extra stability. Although the introduction of a phenomenological spin-orbit (SO) coupling force in 1949 helped in explaining the magic numbers, its origins are still open questions...
April 23, 2018: Nature Communications
https://www.readbyqxmd.com/read/29686361/author-correction-rapid-susceptibility-profiling-of-carbapenem-resistant-klebsiella-pneumoniae
#20
K T Mulroney, J M Hall, X Huang, E Turnbull, N M Bzdyl, A Chakera, U Naseer, E M Corea, M J Ellington, K L Hopkins, A L Wester, O Ekelund, N Woodford, T J J Inglis
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
April 24, 2018: Scientific Reports
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