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https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#1
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28101830/getting-ahead-of-yourself-parafoveal-word-expectancy-modulates-the-n400-during-sentence-reading
#2
Mallory C Stites, Brennan R Payne, Kara D Federmeier
An important question in the reading literature regards the nature of the semantic information readers can extract from the parafovea (i.e., the next word in a sentence). Recent eye-tracking findings have found a semantic parafoveal preview benefit under many circumstances, and findings from event-related brain potentials (ERPs) also suggest that readers can at least detect semantic anomalies parafoveally (Barber, Van der Meij, & Kutas, Psychophysiology, 50(1), 48-59, 2013). We use ERPs to ask whether fine-grained aspects of semantic expectancy can affect the N400 elicited by a word appearing in the parafovea...
January 18, 2017: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/28101265/prevalence-and-persistence-of-misconceptions-in-tree-thinking
#3
Tyler A Kummer, Clinton J Whipple, Jamie L Jensen
Darwin described evolution as "descent with modification." Descent, however, is not an explicit focus of most evolution instruction and often leaves deeply held misconceptions to dominate student understanding of common ancestry and species relatedness. Evolutionary trees are ways of visually depicting descent by illustrating the relationships between species and groups of species. The ability to properly interpret and use evolutionary trees has become known as "tree thinking." We used a 20-question assessment to measure misconceptions in tree thinking and compare the proportion of students who hold these misconceptions in an introductory biology course with students in two higher-level courses including a senior level biology course...
December 2016: Journal of Microbiology & Biology Education: JMBE
https://www.readbyqxmd.com/read/28100306/diverse-novel-astroviruses-identified-in-wild-himalayan-marmots
#4
Yuanyun Ao, Jiemei Yu, Lili Li, Jingyuan Cao, Hongyan Deng, Yunyun Xin, Mengmeng Liu, Lin Lin, Shan Lu, Jianguo Xu, Zhaojun Duan
With advances in viral surveillance and next generation sequencing, highly diverse novel astroviruses (AstVs) and different animal hosts have been discovered in recent years. However, the existence of AstVs in marmots has yet to be shown. Here, we identified for the first time two highly divergent strains of AstVs, (tentatively named Qinghai Himalayana marmot AstV, HHMAstV1 and HHMAstV2), by viral metagenomic analysis in liver tissues isolated from wild Marmota himalayana in China. Overall, 12 of 99 (12.1%) M...
January 18, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28100173/whole-genome-wide-transcript-profiling-to-identify-differentially-expressed-genes-associated-with-seed-field-emergence-in-two-soybean-low-phytate-mutants
#5
Fengjie Yuan, Xiaomin Yu, Dekun Dong, Qinghua Yang, Xujun Fu, Shenlong Zhu, Danhua Zhu
BACKGROUND: Seed germination is important to soybean (Glycine max) growth and development, ultimately affecting soybean yield. A lower seed field emergence has been the main hindrance for breeding soybeans low in phytate. Although this reduction could be overcome by additional breeding and selection, the mechanisms of seed germination in different low phytate mutants remain unknown. In this study, we performed a comparative transcript analysis of two low phytate soybean mutants (TW-1 and TW-1-M), which have the same mutation, a 2 bp deletion in GmMIPS1, but show a significant difference in seed field emergence, TW-1-M was higher than that of TW-1 ...
January 18, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28099651/contribution-of-oswaldo-paulo-forattini-to-public-health-analysis-of-scientific-production
#6
Juliana Gonçalves Reis, Keilla Miki Kobayashi, Helene Mariko Ueno, Cristiane Martins Ribeiro, Telma Abdalla de Oliveira Cardoso
OBJECTIVE: To analyze the main characteristics of the scientific production of Oswaldo Paulo Forattini, researcher and, for 40 years, editor of Revista de Saúde Pública. METHODS: Descriptive study with bibliometric approach conducted in three steps. (1) identification of bibliographic records using the following search strategy: "Oswaldo Paulo Forattini" OR "Forattini OP" OR "Forattini" up information sources Google Scholar, Web of Science, and PubMed, in July 2016, which retrieved 867 records...
December 22, 2016: Revista de Saúde Pública
https://www.readbyqxmd.com/read/28099291/transcutaneous-carbon-dioxide-measurements-in-women-receiving-intrathecal-morphine-for-cesarean-delivery-a-prospective-observational-study
#7
Jeanette R Bauchat, Robert McCarthy, Paul Fitzgerald, Stephen Kolb, Cynthia A Wong
BACKGROUND: Neuraxial morphine is the most commonly used analgesic technique after cesarean delivery. The incidence of respiratory depression is reported to be very low (0%-1.2%) in this patient population as measured by pulse oximetry and respiratory rates. However, hypercapnia may be a more sensitive measure of respiratory depression. In the current study, the incidence of hypercapnia events (transcutaneous CO2 [TcCO2] >50 mm Hg) for ≥2-minute duration was evaluated using the Topological Oscillation Search with Kinematical Analysis monitor in women who received intrathecal morphine for postcesarean delivery analgesia...
January 17, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28098737/increased-intraocular-pressure-is-a-risk-factor-for-unexplained-visual-loss-during-silicone-oil-endotamponade
#8
Marvin Marti, Richard Walton, Christian Böni, Sandrine A Zweifel, Marc Stahel, Daniel Barthelmes
PURPOSE: To identify the incidence rate and risk factors for unexplained visual loss associated with silicone oil endotamponade used during primary repair of macula-sparing rhegmatogenous retinal detachments. METHODS: This retrospective cohort study included patients undergoing pars plana vitrectomy for primary surgical repair of macula-sparing rhegmatogenous retinal detachments in whom silicone oil endotamponade was used. The primary outcome measure was the incidence rate of unexplained visual loss and identification of risk factors associated with vision loss...
January 16, 2017: Retina
https://www.readbyqxmd.com/read/28097404/complete-mitochondrial-genome-of-the-endophytic-fungus-pestalotiopsis-fici-features-and-evolution
#9
Shu Zhang, Xiu-Na Wang, Xiao-Ling Zhang, Xing-Zhong Liu, Yong-Jie Zhang
Endophytic fungi (EF) live within plants and have profound impacts on plant communities. They are astonishingly diverse but poorly studied at the genome level. Herein, we assembled the mitochondrial genome (mitogenome) of the EF Pestalotiopsis fici, annotated and compared it with those of other relatives to better understand the evolution of the EF lineage. Except for standard fungal mitochondrial genes, the 69,529-bp circular mitogenome of P. fici harbors 18 introns acquired possibly through lateral transfer from other fungi and nine free-standing open reading frames with some scarcely seen in fungal mitogenomes...
January 17, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28096517/the-nucleoside-analog-clitocine-is-a-potent-and-efficacious-readthrough-agent
#10
Westley J Friesen, Christopher R Trotta, Yuki Tomizawa, Jin Zhuo, Briana Johnson, Jairo Sierra, Bijoyita Roy, Marla Weetall, Jean Hedrick, Josephine Sheedy, James Takasugi, Young-Choon Moon, Suresh Babu, Ramil Baiazitov, John D Leszyk, Thomas W Davis, Stuart W Peltz, Ellen M Welch
Nonsense mutations resulting in a premature stop codon in an open reading frame occur in critical tumor suppressor genes in a large number of the most common forms of cancers and are known to cause or contribute to the progression of disease. Low molecular weight compounds that induce readthrough of nonsense mutations offer a new means of treating patients with genetic disorders or cancers resulting from nonsense mutations. We have identified the nucleoside analog clitocine as a potent and efficacious suppressor of nonsense mutations...
January 17, 2017: RNA
https://www.readbyqxmd.com/read/28095772/empirical-assessment-of-analysis-workflows-for-differential-expression-analysis-of-human-samples-using-rna-seq
#11
Claire R Williams, Alyssa Baccarella, Jay Z Parrish, Charles C Kim
BACKGROUND: RNA-Seq has supplanted microarrays as the preferred method of transcriptome-wide identification of differentially expressed genes. However, RNA-Seq analysis is still rapidly evolving, with a large number of tools available for each of the three major processing steps: read alignment, expression modeling, and identification of differentially expressed genes. Although some studies have benchmarked these tools against gold standard gene expression sets, few have evaluated their performance in concert with one another...
January 17, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28094285/urinary-exosomes-contain-micrornas-capable-of-paracrine-modulation-of-tubular-transporters-in-kidney
#12
Tannia Gracia, Xiaonan Wang, Ya Su, Elizabeth E Norgett, Timothy L Williams, Pablo Moreno, Gos Micklem, Fiona E Karet Frankl
Exosomes derived from all nephron segments are present in human urine, where their functionality is incompletely understood. Most studies have focused on biomarker discovery rather than exosome function. Through sequencing we identified the miRNA repertoire of urinary exosomes from healthy volunteers; 276 mature miRNAs and 345 pre-miRNAs were identified (43%/7% of reads). Among the most abundant were members of the miR-10, miR-30 and let-7 families. Targets for the identified miRNAs were predicted using five different databases; genes encoding membrane transporters and their regulators were enriched, highlighting the possibility that these miRNAs could modulate key renal tubular functions in a paracrine manner...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093686/pregnancy-intention-and-pregnancy-outcome-systematic-review-and-meta-analysis
#13
REVIEW
Jennifer A Hall, Lorna Benton, Andrew Copas, Judith Stephenson
Introduction Previous systematic reviews concluded that rigorous research on the relationships between pregnancy intentions and pregnancy outcomes is limited. They further noted that most studies were conducted in high-income countries and had methodological limitations. We aim to assess the current evidence base for the relationship between pregnancy intention and miscarriage, stillbirth, low birthweight (LBW) and neonatal mortality. In March 2015 Embase, PubMed, Scopus and PsychInfo were searched for studies investigating the relationship between pregnancy intention and the outcomes of interest...
January 16, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28093410/fastdoop-a-versatile-and-efficient-library-for-the-input-of-fasta-and-fastq-files-for-mapreduce-hadoop-bioinformatics-applications
#14
Umberto Ferraro Petrillo, Gianluca Roscigno, Giuseppe Cattaneo, Raffaele Giancarlo
: MapReduce Hadoop bioinformatics applications require the availability of special-purpose routines to manage the input of sequence files. Unfortunately, the Hadoop framework does not provide any built-in support for the most popular sequence file formats like FASTA or BAM. Moreover, the development of these routines is not easy, both because of the diversity of these formats and the need for managing efficiently sequence datasets that may count up to billions of characters. We present FASTdoop, a generic Hadoop library for the management of FASTA and FASTQ files...
January 16, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28091430/impact-of-informed-consent-on-patient-decisions-regarding-third-molar-removal
#15
G Göcmen, O Atalı, O Gonul, K Goker
PURPOSE: We investigated whether the order in which patients learned about complication risks affected their anxiety about and willingness to undergo the removal of their third molar. MATERIALS AND METHODS: In total, 171 patients (65 males, 106 females) were included in the study. The distributions of gender and the position of mandibular third molars were recorded. The Amsterdam Preoperative Anxiety and Information Scale and Spielberger's State-Trait Anxiety Inventory were used to evaluate anxiety...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28090641/in-vivo-quantitative-assessment-of-the-therapeutic-response-in-a-mouse-model-of-collagen-induced-arthritis-using-18-f-fluorodeoxyglucose-positron-emission-tomography
#16
Anupam Mitra, Smriti Kundu-Raychaudhuri, Christine Abria, Angelica Rona, Abhijit J Chaudhari, Siba P Raychaudhuri
BACKGROUND: Mouse collagen induced arthritis (CIA) is the most commonly used animal model to investigate underlying pathogenesis of autoimmune arthritis and to demonstrate therapeutic efficacy of novel drugs in autoimmune arthritis. The conventional read out of CIA are clinical score and histopathology, which have several limitations including (i) subjected to observer bias; (ii) longitudinal therapeutic efficacy of a new drug cannot be determined. Thus a robust, non-invasive, in vivo drug screening tool is currently an unmet need...
January 16, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28089955/is-integrated-18f-fdg-pet-mri-superior-to-18f-fdg-pet-ct-in-the-differentiation-of-incidental-tracer-uptake-in-the-head-and-neck-area
#17
Benedikt Michael Schaarschmidt, Benedikt Gomez, Christian Buchbender, Johannes Grueneisen, Felix Nensa, Lino Morris Sawicki, Verena Ruhlmann, Axel Wetter, Gerald Antoch, Philipp Heusch
PURPOSE: We aimed to investigate the accuracy of 18F-fluorodeoxyglucose positron emission tomography/magnetic resonance imaging (18F-FDG PET/MRI) compared with contrast-enhanced 18F-FDG PET/computed tomography (PET/CT) for the characterization of incidental tracer uptake in examinations of the head and neck. METHODS: A retrospective analysis of 81 oncologic patients who underwent contrast-enhanced 18F-FDG PET/CT and subsequent PET/MRI was performed by two readers for incidental tracer uptake...
January 16, 2017: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
https://www.readbyqxmd.com/read/28089895/effects-of-fulvic-acid-on-growth-performance-and-intestinal-health-of-juvenile-loach-paramisgurnus-dabryanus-sauvage
#18
Yang Gao, Jie He, Zhuliu He, Zhiwei Li, Bo Zhao, Yi Mu, Jeong-Yeol Lee, Zhangjie Chu
A 60-day feeding trial was conducted to determine the effect of dietary fulvic acid supplements on intestinal digestive activity (enzymatic analysis), antioxidant activity, immune enzyme activity and microflora composition of juvenile loach (initial weight of 6.2 ± 0.1 g) reared in experimental aquaria. Five test diets containing 0, 0.5, 1.0, 1.5, and 2% fulvic acid were randomly assigned to three aquaria, respectively. Elevated growth performance including final weight, weight gain (WG), specific growth rate (SGR) and feed conversion ratio (FCR) was observed in loaches that were fed fulvic acid...
January 9, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28088677/the-relationship-between-children-s-sensitivity-to-dominant-and-non-dominant-patterns-of-lexical-stress-and-reading-accuracy
#19
Joanne Arciuli
This study reports on a new task for assessing children's sensitivity to lexical stress for words with different stress patterns and demonstrates that this task is useful in examining predictors of reading accuracy during the elementary years. In English, polysyllabic words beginning with a strong syllable exhibit the most common or dominant pattern of lexical stress (e.g., "coconut"), whereas polysyllabic words beginning with a weak syllable exhibit a less common non-dominant pattern (e.g., "banana"). The new Aliens Talking Underwater task assesses children's ability to match low-pass filtered recordings of words to pictures of objects...
January 12, 2017: Journal of Experimental Child Psychology
https://www.readbyqxmd.com/read/28088213/glycine-alanine-dipeptide-repeat-protein-contributes-to-toxicity-in-a-zebrafish-model-of-c9orf72-associated-neurodegeneration
#20
Yu Ohki, Andrea Wenninger-Weinzierl, Alexander Hruscha, Kazuhide Asakawa, Koichi Kawakami, Christian Haass, Dieter Edbauer, Bettina Schmid
BACKGROUND: The most frequent genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) is the expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 (C9orf72) locus. The pathological hallmarks observed in C9orf72 repeat expansion carriers are the formation of RNA foci and deposition of dipeptide repeat (DPR) proteins derived from repeat associated non-ATG (RAN) translation. Currently, it is unclear whether formation of RNA foci, DPR translation products, or partial loss of C9orf72 predominantly drive neurotoxicity in vivo...
January 14, 2017: Molecular Neurodegeneration
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