Τετάρτη, 16 Μαρτίου 2016

Molecular Characterization of Methicillin-Resistant Staphylococcus aureus Bloodstream Isolates in a Turkish University Hospital Between 2002 and 2012

Microbial Drug Resistance , Vol. 0, No. 0.


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Small-Colony Variants in Persistent and Recurrent Staphylococcus aureus Bacteremia

Microbial Drug Resistance , Vol. 0, No. 0.


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Enterococcus faecium ST17 from Coastal Marine Sediment Carrying Transferable Multidrug Resistance Plasmids

Microbial Drug Resistance , Vol. 0, No. 0.


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Molecular and Phenotypic Characterization of Multidrug-Resistant Clones of Staphylococcus epidermidis in Iranian Hospitals: Clonal Relatedness to Healthcare-Associated Methicillin-Resistant Isolates in Northern Europe

Microbial Drug Resistance , Vol. 0, No. 0.


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Whole Genome Sequence Analysis of Pig Respiratory Bacterial Pathogens with Elevated Minimum Inhibitory Concentrations for Macrolides

Microbial Drug Resistance , Vol. 0, No. 0.


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Resting arterial hypoxemia in subjects with chronic heart failure, pulmonary hypertension and patent foramen ovale

The roles of intrapulmonary and intracardiac shunt in contributing to arterial hypoxemia at rest in chronic heart failure (CHF) subjects have not been well investigated. We hypothesized that blood flow through intrapulmonary arteriovenous anastomoses (QIPAVA) and/or patent foramen ovale (QPFO) could potentially contribute to arterial hypoxemia and, with pulmonary hypertension (PH) secondary to CHF, this contribution may be exacerbated. Fifty-six CHF subjects (New York Heart Association Classes I-III), with (+) and without (−) PH defined as peak tricuspid regurgitation velocity (TRV) ≥2.9 m/s (CHF PH+, n = 32), and peak TRV ≤2.8 m/s (CHF PH–, n = 24), underwent arterial blood gas analysis and transthoracic saline contrast echocardiography (TTSCE) concomitant with transcranial Doppler (TCD) to detect QIPAVA and QPFO. Seventeen/56 CHF subjects (30%) had QPFO but only 4/56 CHF subjects had QIPAVA (7%), both similar to age and gender matched controls. Mean oxygen saturation (SaO2) was lower in subjects with QPFO. Only CHF PH+ subjects with QPFO had arterial hypoxemia (mean SaO2 < 95%). Bubbles scores assessed using TTSCE were correlated with microembolic signals detected with TCD in subjects with QPFO. Significant QIPAVA was not present in either CHF PH+ or PH-subjects suggesting QIPAVA is not dependent on increased pulmonary pressure and does not contribute significantly to arterial hypoxemia in older CHF subjects. Because SaO2 was lower in all CHF subjects with QPFO compared to CHF subjects without QPFO, a PFO should be considered when determining potential causes of arterial hypoxemia since QPFO was present in 30% of these subjects.

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Editorial Board

Publication date: March 2016
Source:Journal of Human Evolution, Volume 92





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Is there a link between Holt-Oram Syndrome and ‘Mardini-Nyhan’ association? – need for further research



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Issue Information



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Novel treatments for complications after bariatric surgery

Abstract

Bariatric surgery has been considered one of best treatments for obesity. As every surgical procedure—and any medical intervention, it is not exempt of complications, among which leaks, strictures, acute hemorrhages and fistulae highlight. Leaks are more common in the gastro-jejunal anastomosis (GJA) in the case of Roux-en-y Gastric Bypass (RYGB), while in Sleeve Gastrectomy (LSG) they locate in the stapler line. Stenosis can be seen in the gastro-jejunostomy in the RYGB and in the gastric tube in case of the LSG. For each of these complications, many innovative solutions have been developed, including new surgical devices. In spite of promising good results, evidence regarding utility and safeness of these technologies is still scarce. Self-expandable endoscopic stents have been used to treat leaks, with an overall success rate of 80–90 % and a migration rate of 15–35 %. The bear trap-like over-the-scope (Ovesco) clips have been used to treat GI hemorrhages, leaks and even fistulae, with a 70–80 % success rate, although more endoscopic sessions may be needed. Overstitch, an endosurgical suture devices, have been used to treat leaks, fistulae and perforations. Overall, technical success achievement approaches to 90 %, while clinical success ranges from 80 to 90 %, except for leaks closure, where a lower success rate has been observed. Despite of all of these advances, early diagnosis and treatment remains the main strategy to achieve success. In summary, novel therapies for complication management can be very useful, though further studies with larger series are still needed in order to confirm their efficacy and safeness.



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Causes of molecular convergence and parallelism in protein evolution

Nature Reviews Genetics 17, 239 (2016). doi:10.1038/nrg.2016.11

Author: Jay F. Storz

To what extent is the convergent evolution of protein function attributable to convergent or parallel changes at the amino acid level? The mutations that contribute to adaptive protein evolution may represent a biased subset of all possible beneficial mutations owing to mutation bias and/or variation



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The genetics of drug efficacy: opportunities and challenges

Nature Reviews Genetics 17, 197 (2016). doi:10.1038/nrg.2016.12

Authors: Matthew R. Nelson, Toby Johnson, Liling Warren, Arlene R. Hughes, Stephanie L. Chissoe, Chun-Fang Xu & Dawn M. Waterworth

Lack of sufficient efficacy is the most common cause of attrition in late-phase drug development. It has long been envisioned that genetics could drive stratified drug development by identifying those patient subgroups that are most likely to respond. However, this vision has not been realized



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Evolutionary genetics: Haunted by the past — modern consequences of Neanderthal DNA

Nature Reviews Genetics 17, 191 (2016). doi:10.1038/nrg.2016.26

Author: Darren J. Burgess

An accumulating wealth of DNA sequencing data from ancient and modern humans has uncovered multiple historic phases of interbreeding that have left a considerable fraction (~1.5–4%) of Neanderthal DNA in modern human genomes. A new study takes advantage of the matched genotypes and medical records



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Microbial genetics: CRISPR memories of RNA

Nature Reviews Genetics 17, 192 (2016). doi:10.1038/nrg.2016.31

Author: Denise Waldron

CRISPR–Cas systems are widespread among prokaryotes and provide a form of adaptive immunity. Short segments of invading DNA are captured and integrated as interspersed spacers within CRISPR arrays, providing a heritable memory that directs the targeting of matching nucleic acid sequences for digestion. In a



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Enhancers as non-coding RNA transcription units: recent insights and future perspectives

Nature Reviews Genetics 17, 207 (2016). doi:10.1038/nrg.2016.4

Authors: Wenbo Li, Dimple Notani & Michael G. Rosenfeld

Networks of regulatory enhancers dictate distinct cell identities and cellular responses to diverse signals by instructing precise spatiotemporal patterns of gene expression. However, 35 years after their discovery, enhancer functions and mechanisms remain incompletely understood. Intriguingly, recent evidence suggests that many, if not all, functional



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Absence of IDH mutation in colorectal cancers with microsatellite instability

Colorectal cancers (CRCs) with deficient DNA mismatch repair system (dMMR) represents approximately 12% of all CRCs. Sporadic dMMR CRCs are due to hypermethylation MLH1 gene promoter and associated with the CpG island methylator phenotype (CIMP). Isocitrate dehydrogenase (IDH) mutant tumors are associated with DNA hypermethylation in various cancers.

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Effectiveness of anti-TNFα drugs in patients with Crohn's disease who do not achieve remission with their first anti-TNFα agent

Anti-TNF treatment is effective for Crohn's disease (CD); however, some patients did not achieve remission with these drugs.

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Gene regulation: A gene-centric analysis of transcriptional cascades

Nature Reviews Genetics 17, 193 (2016). doi:10.1038/nrg.2016.30

Author: Ross Cloney

The past 15 years have seen the gene-specific approach to studying the regulation of gene expression joined by global-scale analysis, enabled by microarrays, whole-genome sequencing and RNA sequencing (RNA-seq). The Toll-like receptor 4 (TLR4)-mediated cascade of transcriptional activity, which is induced by lipopolysaccharide (LPS) or



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Hepatocellular carcinoma detected by regular surveillance: Does timely confirmation of diagnosis matter?

Although current guidelines recommended surveillance of hepatocellular carcinoma, prognosis in patients undergoing enhanced follow-up has yet to be evaluated.

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Mitchochondrial replacement therapy: the IOM report and its aftermath

Nature Reviews Genetics 17, 189 (2016). doi:10.1038/nrg.2016.21

Authors: I. Glenn Cohen & Eli Y. Adashi

Glenn Cohen and Eli Adashi comment on recommendations and limitations of the Institute of Medicine (IOM) report on mitochondrial replacement therapies in light of recent legislative changes in the United States of America.



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Effectiveness of anti-TNFα drugs in patients with Crohn's disease who do not achieve remission with their first anti-TNFα agent

Anti-TNF treatment is effective for Crohn's disease (CD); however, some patients did not achieve remission with these drugs.

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Technique: Chicago HighRise for genome scaffolding

Nature Reviews Genetics 17, 194 (2016). doi:10.1038/nrg.2016.23

Author: Linda Koch

Putnam et al. report an in vitro method for generating long-range linkage data that improves the scaffolding of de novo assembled genomes. Their approach, called Chicago, requires only small amounts of high-molecular-weight DNA as starting material and uses reconstituted chromatin as a



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Bioinformatics: Sequence searches blossom

Nature Reviews Genetics 17, 194 (2016). doi:10.1038/nrg.2016.25

Author: Linda Koch

A novel data mining algorithm, based on a newly developed indexing data structure called Sequence Bloom Trees (SBTs), efficiently searches large-scale short-read sequencing repositories for experiments containing a sequence of interest, at 162 times the speed of existing search methods. The authors validate their algorithm



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Absence of IDH mutation in colorectal cancers with microsatellite instability

Colorectal cancers (CRCs) with deficient DNA mismatch repair system (dMMR) represents approximately 12% of all CRCs. Sporadic dMMR CRCs are due to hypermethylation MLH1 gene promoter and associated with the CpG island methylator phenotype (CIMP). Isocitrate dehydrogenase (IDH) mutant tumors are associated with DNA hypermethylation in various cancers.

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Genetic screens: CombiGEM–CRISPR: a creative combination

Nature Reviews Genetics 17, 194 (2016). doi:10.1038/nrg.2016.24

Author: Linda Koch

Researchers have generated a platform that uses combinatorial genetics en masse (CombiGEM) and the CRISPR–Cas9 system for the rapid assembly of barcoded combinatorial genetic libraries that can be tracked with high-throughput sequencing. The approach can be used to undertake pooled combinatorial genetic perturbations in human



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Hepatocellular carcinoma detected by regular surveillance: Does timely confirmation of diagnosis matter?

Although current guidelines recommended surveillance of hepatocellular carcinoma, prognosis in patients undergoing enhanced follow-up has yet to be evaluated.

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DNA methylation: A SMRT analysis of prokaryotic epigenomes

Nature Reviews Genetics 17, 195 (2016). doi:10.1038/nrg.2016.22

Author: Ross Cloney

In prokaryotes, DNA methyltransferases (MTases) are part of the restriction-modification (RM) systems that, along with restriction enzymes, protect the genome against exogenous sources of DNA, such as viral infection. Here Blow et al. use deep single-molecule real-time (SMRT) sequencing to analyse the genome-wide methylation



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Mechanisms underlying structural variant formation in genomic disorders

Nature Reviews Genetics 17, 224 (2016). doi:10.1038/nrg.2015.25

Authors: Claudia M. B. Carvalho & James R. Lupski

With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have revealed a ubiquitous role for



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Complex traits: Integrating gene variation and expression to understand complex traits

Nature Reviews Genetics 17, 194 (2016). doi:10.1038/nrg.2016.18

Author: Ross Cloney

Genetic variants can influence complex human traits in many ways, often through the modulation of gene expression. Now, researchers have integrated genetic and transcriptional variation to conduct a transcription-wide association study (TWAS), linking gene expression with complex traits.Association studies that measure both genetic variation



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Epigenetics: A three-state model for epigenetic silencing

Nature Reviews Genetics 17, 192 (2016). doi:10.1038/nrg.2016.19

Author: Denise Waldron

Chromatin regulators (CRs) have an important role in the modulation of gene expression states and the establishment of epigenetic memory, but the dynamics of their action in individual cells were unclear. In a new study published in Science, Bintu et al. analyse the



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Plant genomics: Under the sea flowering plants adapt and thrive

Nature Reviews Genetics 17, 195 (2016). doi:10.1038/nrg.2016.17

Author: Ross Cloney

On three known independent occasions, the ancestors of the seagrasses left the land to colonize the coastal seabeds with widespread success. To survive in such a different ecological niche requires extensive adaptation to the pressures of a marine environment. Now, Olsen et al. present



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ERP C250 Shows the Elderly (Cognitively Normal, Alzheimer’s Disease) Store More Stimuli in Short-Term Memory than Young Adults Do

Memory problems are a common complaint among the elderly population. Difficulties with storing information in short-term memory could be a serious culprit in age-related memory problems, as a diminished ability to identify and retain important information at an early-stage of information processing will have a negative bearing on anything that needs to be done with that information later. In addition, deficits of memory are a hallmark of numerous diseases that commonly afflict the elderly, including amnestic Mild Cognitive Impairment (Petersen et al., 2013) and Alzheimer's disease (AD) (McKhann et al., 1984).

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Subtenon block combined with general anesthesia for vitreoretinal surgery improves postoperative analgesia in adult: a randomized controlled trial

gr1.sml

To evaluate the effects of subtenon block (SB) as an adjunct to general anesthesia on intraoperative oculocardiac reflex (OCR), postoperative pain, and postoperative nausea and vomiting (PONV) for vitreoretinal surgery.

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Electroencephalogram Signatures of Ketamine-Induced Unconsciousness

Ketamine is an N-methyl-D-aspartate (NMDA) receptor antagonist that is used as a dissociative anesthetic (Domino et al., 1965, Corssen et al., 1966), a research model for schizophrenia (Insel, 2010), and a fast acting treatment for major depressive disorder (Zarate et al., 2006). At low doses, ketamine produces a dissociative state characterized by hallucinations, altered sensory perception and analgesia, while at higher doses it induces a state of unconsciousness appropriate for general anesthesia.

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Maintenance of cutaneomuscular neuronal excitability after leg-cycling predicts lower limb muscle strength after incomplete spinal cord injury

Cutaneous sensory processing is essential for the performance of voluntary motor tasks such as locomotion and balance (Van Wezel et al., 1997, Zehr et al., 1999, Rossignol et al., 2006) and the execution of phasic lower limb movements associated with leg cycling (Zehr et al., 2001). After spinal cord injury (SCI) experimental studies have also demonstrated that cutaneous afferent information contributes to the recovery of residual gait function (Rossignol et al., 2008; Panek et al., 2014), and may represent a central mechanism of neuroplasticity (Frigon et al., 2009).

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