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https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#1
REVIEW
Betül Baykan, Peter Wolf
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype...
May 18, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28544265/lasting-improvement-of-medication-overuse-headache-after-brief-intervention-a-long-term-follow-up-in-primary-care
#2
E S Kristoffersen, J Straand, M B Russell, C Lundqvist
BACKGROUND AND PURPOSE: Withdrawal therapy improves the headache situation for many patients with medication-overuse headache (MOH), but relapses are common. The objective was to assess the long-term effectiveness of a general practitioner conducted brief intervention (BI) for MOH. METHODS: Sixty MOH patients initially participating in a blinded cluster-randomized controlled trial evaluating BI versus business as usual (BAU) were followed up for 16 months. Follow-up was open after 6 months...
May 23, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28544196/analysis-of-transcriptional-and-epigenetic-changes-in-hybrid-vigor-of-allopolyploid-brassica-napus-uncovers-key-roles-for-small-rnas
#3
Yifei Shen, Shuo Sun, Shuijin Hua, Enhui Shen, Chu-Yu Ye, Daguang Cai, Michael P Timko, Qian-Hao Zhu, Longjiang Fan
Heterosis is a fundamental biological phenomenon characterized by the superior performance of a hybrid compared to its parents. The underlying molecular basis for heterosis, particularly for allopolyploids, remains elusive. In this study, we analyzed the transcriptomes of Brassica napus parental lines and their F1 hybrids at three stages of early flower development. Phenotypically, the F1 hybrids show remarkable heterosis in silique number and grain yield. Transcriptome analysis revealed that various phytohormones (auxin and salicylic acid) response genes are significantly altered in the F1 hybrids relative to the parental lines...
May 21, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28544148/structure-and-biosynthesis-of-crocagins-polycyclic-postranslationally-modified-ribosomal-peptides-from-chondromyces-crocatus
#4
Konrad Viehrig, Frank Surup, Carsten Volz, Jennifer Herrmann, Antoine Abou Fayad, Sebastian Adam, Jesko Köhnke, Dirk Trauner, Rolf Müller
Secondary metabolome mining efforts in the myxobacterial multiproducer of natural products, Chondromyces crocatus Cm c5, resulted in the isolation and structure elucidation of crocagins, which are novel polycyclic peptides containing a tetrahydropyrrolo[2,3-b]indole core. The gene cluster was identified through an approach combining genome analysis, targeted gene inactivation in the producer, and in vitro experiments. Based on our findings, we developed a biosynthetic scheme for crocagin biosynthesis. These natural products are formed from the three C-terminal amino acids of a precursor peptide and thus belong to a novel class of ribosomally synthesized and post-translationally modified peptides (RiPPs)...
May 23, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28543029/temporal-trends-in-craniometric-estimates-of-admixture-for-a-modern-american-sample
#5
Bridget F B Algee-Hewitt
OBJECTIVES: Temporal trends in craniometric estimates of admixture are investigated for three U.S. populations in the FDB. Patterns of association between birth years and posterior probabilities of cluster membership are identified to assess how these proportions of admixture have changed over recent time. Demographic and genetic data correlates, patterns of morphological expression, and shifts in source populations are evaluated. MATERIALS AND METHODS: Estimates of three-way admixture were obtained for 1,521 individuals of documented population, sex, and birth years that span the 20th century...
May 24, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28542661/-benign-acute-childhood-myositis-clinical-series-and-literature-review
#6
Felipe Cavagnaro S M, Alejandra Aird G, Ingrid Harwardt R, Carmen Gloria Marambio Q
Benign acute childhood myositis (BACM) is a rare clinical condition that mainly affects pre-school and school age-children. It is usually preceded by a viral illness, particularly influenza virus infection. OBJECTIVE: To describe a cluster of BACM cases that were seen in a paediatric unit. PATIENTS AND METHODS: A retrospective series of cases that presented with a clinical picture suggestive of BACM between August and November 2012 in the paediatric emergency department of a private clinic...
April 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28542411/genome-scale-investigation-of-olfactory-system-spatial-heterogeneity
#7
Torben Noto, Derrick Barnagian, Jason B Castro
The early olfactory system is organized in parallel, with numerous, specialized subsystems established by the modular and topographic projections of sensory inputs. While these anatomical sub-systems are in many cases demarcated by well-known marker genes, we stand to learn considerably more about their possible functional specializations from comprehensive, genome-scale descriptions of their molecular anatomy. Here, we leverage the resources of the Allen Brain Atlas (ABA)-a spatially registered compendium of gene expression for the mouse brain-to investigate the early olfactory system's genomic anatomy...
2017: PloS One
https://www.readbyqxmd.com/read/28542202/unravelling-the-rate-of-action-of-hits-in-the-leishmania-donovani-box-using-standard-drugs-amphotericin-b-and-miltefosine
#8
Diana Tegazzini, Juan Cantizani, Imanol Peña, Julio Martín, Jose M Coterón
In recent years, the neglected diseases drug discovery community has elected phenotypic screening as the key approach for the identification of novel hit compounds. However, when this approach is applied, important questions related to the mode of action for these compounds remain unanswered. One of such questions is related to the rate of action, a useful piece of information when facing the challenge of prioritising the most promising hit compounds. In the present work, compounds of the "Leishmania donovani box" were evaluated using a rate of action assay adapted from a replicative intracellular high content assay recently developed...
May 25, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28541756/genetic-diversity-of-mtdna-d-loop-sequences-in-four-native-chinese-chicken-breeds
#9
H W Guo, C Li, X N Wang, Z J Li, G R Sun, G X Li, X J Liu, X T Kang, R L Han
1. To explore the genetic diversity of Chinese indigenous chicken breeds, a 585 bp fragment of the mitochondrial DNA (mtDNA) region was sequenced in 102 birds from the Xichuan Black-bone chicken, Yunyang Black-bone chicken and Lushi chicken. In addition, 30 mtDNA D-loop sequences of Silkie fowls were downloaded from NCBI. The mtDNA D-loop sequence polymorphism and maternal origin of 4 chicken breeds were analysed in this study. 2. The results showed that a total of 33 mutation sites and 28 haplotypes were detected in the 4 chicken breeds...
May 25, 2017: British Poultry Science
https://www.readbyqxmd.com/read/28541708/highly-stable-monocrystalline-silver-clusters-for-plasmonic-applications
#10
Sergey M Novikov, Vladimir N Popok, Andrey B Evlyukhin, Muhammad Hanif, Per Morgen, Jacek Fiutowski, Jonas Beermann, Horst-Guenter Rubahn, Sergey I Bozhevolnyi
: Plasmonics sensor configurations utilizing localized plasmon resonances in silver nanostructures typically suffer from rapid degradation of silver in ambient atmospheric conditions. In this work, we report on the fabrication and detailed characterization of ensembles of monocrystalline silver nanoparticles (NPs), which exhibit a long-term stability of optical properties under ambient conditions without any protective treatments. Ensembles with different densities (surface coverages) of size-selected NPs (diameters from 12...
May 25, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28541683/triol-ligand-modification-and-structural-transformation-of-anderson-evans-oxomolybdates-via-modulating-oxidation-state-of-co-heteroatom
#11
Yang Wang, Xiaoting Liu, Wei Xu, Ying Yue, Bao Li, Lixin Wu
Various covalent decorations and structural transformations of a series of R-C(CH2OH)3 triol ligands on Co(II)/Co(III)-centered Anderson-Evans polyoxomolybdates were studied in aqueous and/or organic solution. Single-crystal X-ray structural analysis demonstrated that four manners, including (1) double-sided χ/χ-isomer and (2) double-sided δ/χ-isomer with Co(II) central heteroatom, and (3) single-sided δ-isomer and (4) double-sided δ/δ-isomer with Co(III) central heteroatom, appeared on the decoration of the mother polyanion [Co(II/III)(OH)6Mo6O18](4-/3-)...
May 25, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28541580/genes-and-gene-clusters-related-to-genotype-and-drought-induced-variation-in-saccharification-potential-lignin-content-and-wood-anatomical-traits-in-populus-nigra%C3%A2
#12
Henning Wildhagen, Shanty Paul, Mike Allwright, Hazel K Smith, Marta Malinowska, Sabine K Schnabel, M João Paulo, Federica Cattonaro, Vera Vendramin, Simone Scalabrin, Dennis Janz, Cyril Douthe, Oliver Brendel, Cyril Buré, David Cohen, Irène Hummel, Didier Le Thiec, Fred van Eeuwijk, Joost J B Keurentjes, Jaume Flexas, Michele Morgante, Paul Robson, Marie-Béatrice Bogeat-Triboulot, Gail Taylor, Andrea Polle
Wood is a renewable resource that can be employed for the production of second generation biofuels by enzymatic saccharification and subsequent fermentation. Knowledge on how the saccharification potential is affected by genotype-related variation of wood traits and drought is scarce. Here, we used three Populus nigra L. genotypes from habitats differing in water availability to (i) investigate the relationships between wood anatomy, lignin content and saccharification and (ii) identify genes and co-expressed gene clusters related to genotype and drought-induced variation in wood traits and saccharification potential...
May 24, 2017: Tree Physiology
https://www.readbyqxmd.com/read/28541565/emergence-of-vana-enterococcus-faecium-in-denmark-2005-15
#13
Anette M Hammerum, Sharmin Baig, Yasmin Kamel, Louise Roer, Mette Pinholt, Heidi Gumpert, Barbara Holzknecht, Bent Røder, Ulrik S Justesen, Jurgita Samulioniené, Mona Kjærsgaard, Claus Østergaard, Anette Holm, Esad Dzajic, Turid Snekloth Søndergaard, Shahin Gaini, Petra Edquist, Erik Alm, Berit Lilje, Henrik Westh, Marc Stegger, Henrik Hasman
Objectives: To describe the changing epidemiology of vancomycin-resistant Enterococcus faecium and Enterococcus faecalis in clinical samples in Denmark 2005-15 according to species and van type, and, furthermore, to investigate the genetic relatedness of the clinical E. faecium isolates from 2015. Methods: During 2005-14, all clinical VRE isolates were tested for the presence of vanA/B/C genes by PCR. In 2015, all clinical VRE isolates were whole-genome sequenced...
May 25, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28541535/genome-wide-snp-analysis-reveals-distinct-origins-of-trypanosoma-evansi-and-trypanosoma-equiperdum
#14
Bart Cuypers, Frederik Van den Broeck, Nick Van Reet, Conor J Meehan, Julien Cauchard, Jonathan M Wilkes, Filip Claes, Bruno Goddeeris, Hadush Birhanu, Jean-Claude Dujardin, Kris Laukens, Philippe Büscher, Stijn Deborggraeve
Trypanosomes cause a variety of diseases in man and domestic animals in Africa, Latin America and Asia. In the Trypanozoon subgenus, Trypanosoma brucei gambiense and T. b. rhodesiense cause human African trypanosomiasis, while T. b. brucei, T. evansi and T. equiperdum are responsible for nagana, surra and dourine in domestic animals, respectively. The genetic relationships between T. evansi and T. equiperdum and other Trypanozoon species remain unclear because the majority of phylogenetic analyses have been based on only a few genes...
May 25, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28541300/splicing-modulators-act-at-the-branch-point-adenosine-binding-pocket-defined-by-the-phf5a-sf3b-complex
#15
Teng Teng, Jennifer Hc Tsai, Xiaoling Puyang, Michael Seiler, Shouyong Peng, Sudeep Prajapati, Daniel Aird, Silvia Buonamici, Benjamin Caleb, Betty Chan, Laura Corson, Jacob Feala, Peter Fekkes, Baudouin Gerard, Craig Karr, Manav Korpal, Xiang Liu, Jason T Lowe, Yoshiharu Mizui, James Palacino, Eunice Park, Peter G Smith, Vanitha Subramanian, Zhenhua Jeremy Wu, Jian Zou, Lihua Yu, Agustin Chicas, Markus Warmuth, Nicholas Larsen, Ping Zhu
Pladienolide, herboxidiene and spliceostatin have been identified as splicing modulators that target SF3B1 in the SF3b subcomplex. Here we report that PHF5A, another component of this subcomplex, is also targeted by these compounds. Mutations in PHF5A-Y36, SF3B1-K1071, SF3B1-R1074 and SF3B1-V1078 confer resistance to these modulators, suggesting a common interaction site. RNA-seq analysis reveals that PHF5A-Y36C has minimal effect on basal splicing but inhibits the global action of splicing modulators. Moreover, PHF5A-Y36C alters splicing modulator-induced intron-retention/exon-skipping profile, which correlates with the differential GC content between adjacent introns and exons...
May 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28540425/contribution-of-plasmid-encoded-peptidase-s8-prtp-to-adhesion-and-transit-in-the-gut-of-lactococcus-lactis-ibb477-strain
#16
Joanna Maria Radziwill-Bienkowska, Véronique Robert, Karolina Drabot, Florian Chain, Claire Cherbuy, Philippe Langella, Muriel Thomas, Jacek Karol Bardowski, Muriel Mercier-Bonin, Magdalena Kowalczyk
The ability of Lactococcus lactis to adhere to the intestinal mucosa can potentially prolong the contact with the host, and therefore favour its persistence in the gut. In the present study, the contribution of plasmid-encoded factors to the adhesive and transit properties of the L. lactis subsp. cremoris IBB477 strain was investigated. Plasmid-cured derivatives as well as deletion mutants were obtained and analysed. Adhesion tests were performed using non-coated polystyrene plates, plates coated with mucin or fibronectin and mucus-secreting HT29-MTX intestinal epithelial cells...
May 24, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28539305/deconstructing-cancer-patient-information-seeking-in-a-consumer-health-library-toward-developing-a-virtual-information-consult-for-cancer-patients-and-their-caregivers-a-qualitative-instrumental-case-study
#17
Janet Papadakos, Aileen Trang, Alaina B Cyr, Nazek Abdelmutti, Meredith E Giuliani, Michelle Snow, Tara McCurdie, Menaka Pulandiran, Sara Urowitz, David Wiljer
BACKGROUND: Cancer patients and their caregivers want information about their disease and are interested in finding health information online. Despite the abundance of cancer information online, it is often fragmented, its quality is highly variable, and it can be difficult to navigate without expert-level knowledge of the cancer system. The Patient & Family Library at the Princess Margaret Cancer Centre offers a broad collection of high-quality cancer health information and staff are available to help patrons refine their questions and explore information needs that they may not have considered...
May 24, 2017: JMIR Cancer
https://www.readbyqxmd.com/read/28537544/high-prevalence-of-four-novel-astrovirus-genotype-species-identified-from-rodents-in-china
#18
Kelvin K W To, Wan-Mui Chan, Kenneth S M Li, Carol S F Lam, Zhiwei Chen, Herman Tse, Susanna K P Lau, Patrick C Y Woo, Kwok-Yung Yuen
Astroviruses cause gastrointestinal and neurological infections in humans and animals. Since astrovirus is genetically diverse and different astrovirus genotypes can be found in the same animal species, astrovirus is a potential zoonotic threat to humans. In this study, we screened for astroviruses in rodents from Hong Kong, Hunan and Guangxi. Astrovirus was detected in 11.9 % (67/562) of rectal swab specimens. Phylogenetic analysis of the ORF1b region, which encodes the RdRp, showed that there were four distinct clusters (clusters A, B, C and D)...
May 25, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28537543/molecular-epidemiology-of-hepatitis-b-virus-infection-in-tanzania
#19
Joseph C Forbi, Michael Dillon, Michael A Purdy, Bakary S Drammeh, Alexandra Tejada-Strop, Daniel McGovern, Guo-Liang Xia, Yulin Lin, Lilia M Ganova-Raeva, David S Campo, Hong Thai, Gilberto Vaughan, Dunstan Haule, Regina P Kutaga, Sridhar V Basavaraju, Saleem Kamili, Yury E Khudyakov
Despite the significant public health problems associated with hepatitis B virus (HBV) in sub-Saharan Africa, many countries in this region do not have systematic HBV surveillance or genetic information on HBV circulating locally. Here, we report on the genetic characterization of 772 HBV strains from Tanzania. Phylogenetic analysis of the S-gene sequences showed prevalence of HBV genotype A (HBV/A, n=671, 86.9 %), followed by genotypes D (HBV/D, n=95, 12.3 %) and E (HBV/E, n=6, 0.8 %). All HBV/A sequences were further classified into subtype A1, while the HBV/D sequences were assigned to a new cluster...
May 25, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28537263/evolutionary-dynamics-and-genomic-features-of-the-elizabethkingia-anophelis-2015-to-2016-wisconsin-outbreak-strain
#20
Amandine Perrin, Elise Larsonneur, Ainsley C Nicholson, David J Edwards, Kristin M Gundlach, Anne M Whitney, Christopher A Gulvik, Melissa E Bell, Olaya Rendueles, Jean Cury, Perrine Hugon, Dominique Clermont, Vincent Enouf, Vladimir Loparev, Phalasy Juieng, Timothy Monson, David Warshauer, Lina I Elbadawi, Maroya Spalding Walters, Matthew B Crist, Judith Noble-Wang, Gwen Borlaug, Eduardo P C Rocha, Alexis Criscuolo, Marie Touchon, Jeffrey P Davis, Kathryn E Holt, John R McQuiston, Sylvain Brisse
An atypically large outbreak of Elizabethkingia anophelis infections occurred in Wisconsin. Here we show that it was caused by a single strain with thirteen characteristic genomic regions. Strikingly, the outbreak isolates show an accelerated evolutionary rate and an atypical mutational spectrum. Six phylogenetic sub-clusters with distinctive temporal and geographic dynamics are revealed, and their last common ancestor existed approximately one year before the first recognized human infection. Unlike other E...
May 24, 2017: Nature Communications
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