Epigenetic and genetic variation in GATA5 is associated with gastric disease risk

Abstract

Gastric cancer incidence varies considerably among populations, even those with comparable rates of Helicobacter pylori infection. To test the hypothesis that genetic variation plays a role in gastric disease, we assessed the relationship between genotypes and gastric histopathology in a Colombian study population, using a genotyping array of immune-related single nucleotide polymorphisms (SNPs). Two synonymous SNPs (rs6061243 and rs6587239) were associated with progression of premalignant gastric lesions in a dominant-effects model after correction for multiple comparisons (p = 2.63E−07 and p = 7.97E−07, respectively); effect sizes were β = −0.863 and β = −0.815, respectively, where β is an estimate of effect on histopathology scores, which ranged from 1 (normal) to 5 (dysplasia). In our replication cohort, a second Colombian population, both SNPs were associated with histopathology when additively modeled (β = −0.256, 95 % CI = −0.47, −0.039; and β = −0.239, 95 % CI = −0.45, −0.024), and rs6587239 was significantly associated in a dominant-effects model (β = −0.330, 95 % CI = −0.66, 0.00). Because promoter methylation of GATA5 has previously been associated with gastric cancer, we also tested for the association of methylation status with more advanced histopathology scores in our samples and found a significant relationship (p = 0.001). A multivariate regression model revealed that the effects of both the promoter methylation and the exonic SNPs in GATA5 were independent. A SNP-by-methylation interaction term was also significant. This interaction between GATA5 variants and GATA5 promoter methylation indicates that the association of either factor with gastric disease progression is modified by the other.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1WjLodR
via IFTTT

Uranium removal by novel graphene oxide-immobilized Saccharomyces cerevisiae gel beads

Publication date: October 2016
Source:Journal of Environmental Radioactivity, Volumes 162–163
Author(s): Can Chen, Jianlong Wang
To evaluate its ability to absorb dissolved uranium (VI), the waste biomass of Saccharomyces cerevisiae was immobilized using different agents, including Ca-alginate (Ca-SA), Ca-alginate with graphene oxide (GO), polyvinyl alcohol (PVA, 5% or 10%, w/v)-SA-GO in CaCl2-boric acid solution. The experimental results showed that graphene oxide at 0.01% (w/v) could enhance the performance of the immobilized cells. The yeast gel beads prepared with 5% PVA-1% SA-2% yeast-0.01% GO-2% CaCl2-saturated boric acid (4#) generally showed the better physical-chemical properties such as higher tolerance to the unfavorable environmental conditions. Moreover, the 4# gel beads exhibited more stable capacity for U(VI) sorption and desorption at various conditions, such as pH in the range of 3–9. A pseudo second-order kinetic model could describe the kinetics of U(VI) sorption onto the 4# gel beads (R² = 0.96). The Langmuir, Freundlich, Tempkin and Sips models could be used to describe U(VI) sorption by the 4# gel beads, with the R² being 0.90, 0.83, 0.96, 0.97, respectively. The Sips maximum capacity of 4# gel beads was 24.4 mg U/g dry weight. The desorption efficiency of U(VI) adsorbed onto the 4# gel beads was 91%, 73% and 40% by 0.1 M HNO3, 0.1 M HCl and 0.1 M NaOH, respectively. However, the 4# gel beads exhibited lower U(VI) sorption capacity than the raw yeast cell (Sips maximum capacity of 35.6 mg U/g). The immobilized Saccharomyces cerevisiae using SA, PVA and/or GO showed obvious changes in the molecular vibration of functional groups such as carboxyl, amide and hydroxyl groups compared with the raw yeast cells, according to FTIR analysis. The SEM-EDX analysis showed that U(VI) was adsorbed unevenly on the cellular surface. Carboxyl and hydroxyl groups may be involved in U(VI) binding by yeast cells.



from Radiology via xlomafota13 on Inoreader http://ift.tt/1sbBGxI
via IFTTT

Flexible dropped head deformity following laminectomy for cervical spondylotic myelopathy: a case series and review of literature

Flexible dropped head deformity (FDHD) following laminectomy for cervical spondylotic myelopathy is a debilitating entity. Patients need to support their head manually to look forward in standing or sitting position. FDHD is different from rigid dropped head deformity in patients with post-laminectomy kyphosis or ankylosing spondylitis and has only once been described after surgery to the cervical spine.

from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/1OO76Pc
via IFTTT

Should spinal magnetic resonance imaging (MRI) scans be used to determine the duration of therapy for spinal tuberculosis?

BACKGROUND CONTEXT: National guidelines for treatment of spinal TB (sTB) recommend a 6-month quadruple chemotherapy regimen. Spinal magnetic resonance imaging (MRI) is increasingly used to monitor disease progression as optimal treatment duration remains uncertain.

from Sports Medicine via xlomafota13 on Inoreader http://ift.tt/1Z1bX5v
via IFTTT

Predictive role of brain connectivity for resective surgery in Lennox-Gastaut syndrome

Lennox-Gastaut syndrome (LGS) is a syndrome-specific disorder caused by multiple etiologies. LGS characterizes multiple types of seizure, developmental deterioration, and specific electroencephalographic (EEG) features that include bilaterally synchronized generalized sharp and wave discharges (GSWs). These GSWs may hide the primary epileptogenic areas (PEAs) due to the propagation of activity from the PEA to the contralateral hemisphere or due to build-up with synchronous electrical firing from independent bilateral epileptogenic foci via the corpus callosum or subcortical structures (Jung et al., 2005; Ono et al., 2009; Lin et al., 2012).

from Physiology via xlomafota13 on Inoreader http://ift.tt/1WkpgQC
via IFTTT

The relationship between seizures, interictal spikes and antiepileptic drugs

Interictal EEG spikes are known to be highly correlated with the presence of epilepsy (Carreňo and Lüders, 2001; Bautista, 2013; Staba et al., 2014). However, the relationship between interictal spikes and seizure occurrence is not clear. We previously reported a decrease in spike rates accompanies antiepileptic drug (AED) taper during intracranial EEG (icEEG) monitoring (Spencer et al., 2008; Goncharova et al., 2013). This observation suggests that interictal spikes reflect inhibitory and not excitatory mechanisms (Spencer et al., 2008).

from Physiology via xlomafota13 on Inoreader http://ift.tt/1TFgOaX
via IFTTT

Functional and structural cortical characteristics after restricted focal motor cortical infarction evaluated at chronic stage – indications from a preliminary study

Motor disability is among the most common consequences of ischemic stroke. Following focal ischemic damage, the reorganization of the cortical functions begins (Ward and Cohen, 2004). Some initial improvement after the acute phase occurs due to resolution of the perilesional edema and recovery of other tissue functions surviving the ischemia (Hallett, 2001). However, it is thought that the long-term recovery occurs primarily due to brain plasticity through functional and structural reorganization (Hallett, 2001; Hodics et al., 2006).

from Physiology via xlomafota13 on Inoreader http://ift.tt/1Wkp8QX
via IFTTT

Prolonged phone-call posture causes changes of ulnar motor nerve conduction across elbow

Nerve entrapment syndromes are mononeuropathies occurring in regions anatomically predisposed to compression. They are often related to dynamic processes involving surrounding tendons, muscles, bones, and usually occur close to a joint. Posture, habits and other activities may have a crucial role in the change of nerve entrapments (Andersen et al., 2012; Bartels and Verbeek, 2007; Descatha et al., 2004; Palmer et al., 2007; Richardson and Jamieson, 2004; Strömberg et al., 1997).

from Physiology via xlomafota13 on Inoreader http://ift.tt/1TFgw42
via IFTTT

Looking at the muscle to find out what is happening in the brain

Simultaneous recording of EEG and EMG activity in epilepsy has contributed significantly to the description of the ictal semiology of epileptic events, allowing the identification of a wide variety of EMG patterns corresponding to different motor phenomena and demonstrating their temporal and topographic relationships with the epileptic event in the EEG (Mothersill et al., 2000; Tassinari and Rubboli, 2008). These informations have played a crucial role in classifying epileptic motor phenomena (Gastaut and Broughton, 1972; Blume et al., 2001) and were of central importance in the development of the concept of an epileptic syndrome as defined by its electro-clinical features.

from Physiology via xlomafota13 on Inoreader http://ift.tt/1Wkpl6F
via IFTTT

Abnormal resting state brain activity in headache-free migraine patients: A magnetoencephalography study

Migraine is a common episodic neurological disorder characterized by recurrent unilateral throbbing headache and a host of complex pathophysiology including hypersensitivity to visual (photophobia), auditory (phonophobia) stimuli, nausea, emotional and motor disturbances (Headache Classification Subcommittee of the International Headache, 2004; Noseda et al., 2013; Pietrobon et al., 2013) during migraine attacks. Even in the interictal period (headache-free phase), migraine subjects also show hypersensitivity to sensory stimuli and abnormal processing of sensory information (Chen et al., 2011; Restuccia et al., 2012).

from Physiology via xlomafota13 on Inoreader http://ift.tt/1TFh5uL
via IFTTT

Maximal aerobic power and anaerobic capacity in cycling across the age spectrum in male master athletes

Abstract

Purpose

We analyzed the best performance times of master cycling athletes in the 200–3000 m track competitions to estimate the decay of maximal aerobic power (MAP) and anaerobic capacity (AnS) with aging.

Methods

In various decades of age (30–80 years), MAP and AnS were estimated using an iterative procedure as the values that minimize the difference between: (1) the metabolic power ( \(\dot{E} \left( t \right)\) ) necessary to cover a given distance (d) in the time t and; (2) the maximal metabolic power ( \(\dot{E}_{ \hbox{max} } \left( t \right)\) ) maintained at a constant level throughout the competition.

Results

MAP started decreasing at 45 years of age. Thereafter, it showed an average percent rate of decrease of about 16 % for decade, as previously shown in other classes of master athletes. In addition, AnS seemed to decay by about 11 % every 10 years from the second part of the fifth decade.

Conclusions

The decay of MAP occurred in spite of the active lifestyle of the subjects and it may be attributed to the progressive impairment of maximal O₂ delivery and/or of peripheral O₂ utilization. The loss of AnS might derive from the progressive loss of muscle mass occurring after the fifth decade of life, to the progressive qualitative deterioration of the anaerobic energy yielding pathways or to the lower capacity of MN recruitment during maximal efforts. The proposed approach may be applied to other types of human locomotion of whom the relationship between performance t and \(\dot{E} \left( t \right)\) is known.

from Physiology via xlomafota13 on Inoreader http://ift.tt/25mJs9u
via IFTTT

The Development of a Hospital-Wide Bereavement Program: Ensuring Bereavement Care for All Families of Pediatric Patients

Although grief is a normal response to loss, the death of a child is believed to be one of the most difficult losses a person can endure, and bereaved parents are considered to be an "at-risk" group. Even though most deaths of children in the United States occur in hospitals, bereavement care provided by hospitals is highly variable, and little attention has been directed to how hospitals can best support grieving parents. In this article, we describe the development of a hospital-wide bereavement program at Boston Children's Hospital, where we conceptualize bereavement care as a preventive model of care.

from Health via xlomafota13 on Inoreader http://ift.tt/1qKp9zG
via IFTTT

A case of simultaneous esophageal squamous cell carcinoma and Barrett’s adenocarcinoma

Abstract

A 77-year-old male with a long history of alcohol consumption and smoking was admitted for hoarseness and dysphagia. Computed tomography revealed thickening of the middle intrathoracic esophageal wall and multiple mediastinal lymph node swellings. Esophagogastroduodenoscopic examination disclosed an advanced-stage squamous cell carcinoma lesion in the middle intrathoracic esophagus with synchronous early stage Barrett's adenocarcinoma. The patient underwent endoscopic submucosal dissection for the adenocarcinoma followed by chemoradiation therapy for the squamous cell carcinoma. In spite of their common risk factors, the simultaneous manifestation of esophageal squamous cell carcinoma and Barrett's adenocarcinoma is extremely rare and requires further study.

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1sQEJMe
via IFTTT

Genetic Mapping of Millions of SNPs in Safflower (Carthamus tinctorius L.) via Whole Genome Re-sequencing

Accurate assembly of complete genomes is facilitated by very high density genetic maps. We performed low-coverage, whole-genome shotgun sequencing on 96 F₆ recombinant inbred lines (RILs) of a cross between safflower (Carthamus tinctorius L.) and its wild progenitor (C. palaestinus Eig). We also produced a draft genome assembly of C. tinctorius covering 866 million basepairs (ca. two-thirds) of the expected 1.35 Gbp genome after sequencing a single, short insert library to ca. 21x depth. Sequence reads from the RILs were mapped to this genome assembly to facilitate SNP identification, and the resulting polymorphisms were used to construct a genetic map. The resulting map included 2,008,196 genetically located SNPs in 1,178 unique positions. A total of 57,270 scaffolds, each containing 5 or more mapped SNPs, were anchored to the map. This resulted in the assignment of sequence covering 14% of the expected genome length to a genetic position. Comparison of this safflower map to genetic maps of sunflower and lettuce revealed numerous chromosomal re-arrangements, and the resulting patterns were consistent with a whole genome duplication event in the lineage leading to sunflower. This sequence-based genetic map provides a powerful tool for the assembly of low-cost draft genome of safflower, and the same general approach is expected to work for other species.

from Genetics via xlomafota13 on Inoreader http://ift.tt/20Dv6uG
via IFTTT

Genetic Regulation of Transcriptional Variation in Natural Arabidopsis thaliana Accessions

An increased knowledge of the genetic regulation of expression in Arabidopsis thaliana is likely to provide important insights about the basis of the plant's extensive phenotypic variation. Here, we reanalysed two publicly available datasets with genome-wide data on genetic and transcript variation in large collections of natural A. thaliana accessions. Transcripts from more than half of all genes were detected in the leaf of all accessions, and from nearly all annotated genes in at least one accession. Thousands of genes had high transcript levels in some accessions but no transcripts at all in others and this pattern was correlated with the genome-wide genotype. In total, 2,669 eQTL were mapped in the largest population, and 717 of them were replicated in the other population. 646 cis-eQTLs regulated genes that lacked detectable transcripts in some accessions, and for 159 of these we identified one, or several, common structural variants in the populations that were shown to be likely contributors to the lack of detectable RNA-transcripts for these genes. This study thus provides new insights on the overall genetic regulation of global gene-expression diversity in the leaf of natural A. thaliana accessions. Further, it also shows that strong cis-acting polymorphisms, many of which are likely to be structural variations, make important contributions to the transcriptional variation in the worldwide A. thaliana population.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1XxRfLJ
via IFTTT

A Genetic Mosaic Screen Reveals Ecdysone-Responsive Genes Regulating Drosophila Oogenesis

Multiple aspects of Drosophila oogenesis, including germline stem cell activity, germ cell differentiation, and follicle survival are regulated by the steroid hormone ecdysone. While the transcriptional targets of ecdysone signaling have been studied extensively during development, targets in the ovary remain largely unknown. Early studies of salivary gland polytene chromosomes led to the model that ecdysone stimulates a hierarchical transcriptional cascade, wherein a core group of ecdysone-sensitive transcription factors induce tissue-specific responses by activating secondary branches of transcriptional targets. More recently, genome-wide approaches have identified hundreds of putative ecdysone-responsive targets. Determining whether these putative targets represent bona fide targets in vivo, however, requires that they be tested via traditional mutant analysis in a cell-type specific fashion. To investigate the molecular mechanisms whereby ecdysone signaling regulates oogenesis, we used genetic mosaic analysis to screen putative ecdysone-responsive genes for novel roles in the control of the earliest steps of oogenesis. We identified a cohort of genes required for stem cell maintenance, stem and progenitor cell proliferation, and follicle encapsulation, growth, and survival. These genes encode transcription factors, chromatin modulators, and factors required for RNA transport, stability, and ribosome biogenesis, suggesting that ecdysone might control a wide range of molecular processes during oogenesis. Our results suggest that although ecdysone target genes are known to have cell type-specific roles, many ecdysone response genes that control larval or pupal cell types at developmental transitions are reiteratively used in the adult ovary. These results provide novel insight into the molecular mechanisms by which ecdysone signaling controls oogenesis, laying new ground for future studies.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1XxRiad
via IFTTT

Durian dermatitis, the world's first case report

2016-05-25T15-08-21Z
Source: Case Study and Case Report
Baladi Terriff, Tan Fei.
Durian is a common tropical fruit. It is a favorable sweet for millions of people living in several tropical countries. Dermatitis due to fruit is the common term given to allergic contact dermatitis to the sap or skin of the fruit of durian. This type of allergic reaction is rare but bcomes increasingly important. A cross-reaction b among fruits, various other foods, and respiratory allergens has been assumed but not investigated until now. Here, the author reported a case of durian dermatitis.


from Scope via xlomafota13 on Inoreader http://ift.tt/1qKdIrY
via IFTTT

Accumulation of Deleterious Mutations near Sexually Antagonistic Genes

Mutation generates a steady supply of genetic variation that, while occasionally useful for adaptation, is more often deleterious for fitness. Recent research has emphasized that the fitness effects of mutations often differ between the sexes, leading to important evolutionary consequences for the maintenance of genetic variation and long-term population viability. Some forms of sex-specific selection – i.e., stronger purifying selection in males than females – can help purge a population's load of female-harming mutations and promote population growth. Other scenarios – e.g., sexually antagonistic selection, in which mutations that harm females are beneficial for males – inflate genetic loads and potentially dampen population viability. Evolutionary processes of sexual antagonism and purifying selection are likely to impact the evolutionary dynamics of different loci within a genome, yet theory has mostly ignored the potential for interactions between such loci to jointly shape the evolutionary genetic basis of female and male fitness variation. Here, we show that sexually antagonistic selection at a locus tends to elevate the frequencies of deleterious alleles at tightly linked loci that evolve under purifying selection. Moreover, haplotypes that segregate for different sexually antagonistic alleles accumulate different types of deleterious mutations. Haplotypes that carry female-benefit sexually antagonistic alleles preferentially accumulate mutations that are primarily male harming, whereas male-benefit haplotypes accumulate mutations that are primarily female harming. The theory predicts that sexually antagonistic selection should shape the genomic organization of genetic variation that differentially impacts female and male fitness, and contribute to sexual dimorphism in the genetic basis of fitness variation.

from Genetics via xlomafota13 on Inoreader http://ift.tt/20Dv85M
via IFTTT

Genetic Architecture of Resistance to Stripe Rust in a Global Winter Wheat Germplasm Collection

Virulence shifts in populations of Puccinia striiformis f. sp. tritici (Pst), the causal pathogen of wheat stripe rust, are a major challenge to resistance breeding. The majority of known resistance genes are already ineffective against current races of Pst, necessitating the identification and introgression of new sources of resistance. Germplasm core collections that reflect the range of genetic and phenotypic diversity of crop species are ideal platforms for examining the genetic architecture of complex traits such as resistance to stripe rust. We report the results of genetic characterization and genome-wide association analysis (GWAS) for resistance to stripe rust in a core subset of 1,175 accessions in the National Small Grains Collection (NSGC) winter wheat germplasm collection based on genotyping with the wheat 9K single nucleotide polymorphism (SNP) iSelect assay and phenotyping of seedling and adult plants under natural disease epidemics in four environments. High correlations among the field data translated into high heritability values within and across locations. Population structure was evident when accessions were grouped by stripe rust reaction. GWAS identified 127 resistance loci that were effective across at least two environments, including 20 with significant genome-wide adjusted P-values. Based on relative map positions of previously reported genes and QTL, five of the QTL with significant genome-wide adjusted P-values in this study represent potentially new loci. This study provides an overview of the diversity of Pst resistance in the NSGC winter wheat germplasm core collection, which can be exploited for diversification of stripe rust resistance in breeding programs.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1XxQWAB
via IFTTT

Detecting Recombination Hotspots from Patterns of Linkage Disequilibrium

With recent advances in DNA sequencing technologies, it has become increasingly easy to use whole-genome sequencing of unrelated individuals to assay patterns of linkage disequilibrium (LD) across the genome. One type of analysis that is commonly performed is to estimate local recombination rates and identify recombination hotspots from patterns of LD. One method for detecting recombination hotspots, LDhot, has been used in a handful of species to further our understanding of the basic biology of recombination. For the most part, the effectiveness of this method (e.g., power and false positive rate) is unknown. In this study, we run extensive simulations to compare the effectiveness of three different implementations of LDhot. We find large differences in the power and false positive rates of these different approaches, as well as a strong sensitivity to the window size used (with smaller window sizes leading to more accurate estimation of hotspot locations). We also compared our LDhot simulation results with comparable simulation results obtained from a Bayesian maximum-likelihood approach for identifying hotspots. Surprisingly, we found that the latter computationally intensive approach had substantially lower power over the parameter values considered in our simulations.

from Genetics via xlomafota13 on Inoreader http://ift.tt/20DunK8
via IFTTT

flyDIVaS: A Comparative Genomics Resource for Drosophila Divergence and Selection

With arguably the best finished and expertly annotated genome assembly, Drosophila melanogaster is a formidable genetics model to study all aspects of biology. Nearly a decade ago, the 12 Drosophila Genomes project expanded D. melanogaster's breadth as a comparative model through the community-development of an unprecedented genus- and genome-wide comparative resource. However, since its inception, these datasets for evolutionary inference and biological discovery have become increasingly outdated, outmoded, and inaccessible. Here, we provide an updated and upgradable comparative genomics resource of Drosophila divergence and selection, flyDIVaS, based on the latest genomic assemblies, curated FlyBase annotations, and recent OrthoDB orthology calls. flyDIVaS is an online database containing D. melanogaster-centric orthologous gene sets, CDS and protein alignments, divergence statistics (% gaps, d_N, d_S, d_N/d_S), and codon-based tests of positive Darwinian selection. Out of 13,920 protein-coding D. melanogaster genes, ~80% have one aligned ortholog in the closely related species, D. simulans, and ~50% have 1-1 12-way alignments in the original 12 sequenced species that span over 80 million years of divergence. Genes and their orthologs can be chosen from four different taxonomic datasets differing in phylogenetic depth and coverage density, and visualized via interactive alignments and phylogenetic trees. Users can also batch download entire comparative datasets. A preliminary functional survey finds conserved mitotic and neural genes, highly diverged immune and reproduction-related genes, more conspicuous signals of divergence across tissue-specific genes, and an enrichment of positive selection among highly diverged genes. flyDIVaS will be regularly updated and can be freely accessed at www.flydivas.info. We encourage researchers to regularly use this resource as a tool for biological inference and discovery, and in their classrooms to help train the next generation of biologists to creatively use such genomic big data resources in an integrative manner.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1XxRk1R
via IFTTT

Staff Turnover in Assertive Community Treatment ( Act ) Teams: The Role of Team Climate

Abstract

Staff turnover in Assertive Community Treatment (ACT) teams can result in interrupted services and diminished support for clients. This paper examines the effect of team climate, defined as team members' shared perceptions of their work environment, on turnover and individual outcomes that mediate the climate-turnover relationship. We focus on two climate dimensions: safety and quality climate and constructive conflict climate. Using survey data collected from 26 ACT teams, our analyses highlight the importance of safety and quality climate in reducing turnover, and job satisfaction as the main mediator linking team climate to turnover. The findings offer practical implications for team management.

from Health via xlomafota13 on Inoreader http://ift.tt/1saOoww
via IFTTT

Association between PNPLA3 rs738409 polymorphism and hepatocellular carcinoma risk: an updated meta-analysis

Abstract

Hepatocellular carcinoma (HCC) is a common malignant tumor and the leading cause of cancer-related death worldwide. The protein encoded by patatin-like phospholipase domain-containing protein 3 (PNPLA3) plays important roles in liver fatty metabolism. Recent studies have indicated associations of PNPLA3 rs738409 with various liver diseases, including HCC. This meta-analysis was performed to investigate and update the association between rs738409 polymorphism and the risk of HCC, and to test the association between rs738409 and HCC specifically in patients within chronic hepatitis B and/or C infection, alcoholic liver disease, or other diseases. Studies were searched from the literature database up to March 31, 2016. The meta-analysis was conducted based on statement of preferred reporting items for systematic reviews and meta-analyses. Pooled odds ratios (OR) and 95 % confidence intervals (CI) were estimated the strength of associations between rs738409 polymorphism and HCC risk. Fifteen published studies, consisting of 2264 HCC patients (case) and 5802 without HCC individuals (control), were included in the present study. Meta-analysis revealed that rs738409 polymorphism contributed to HCC risk under the allelic effect model (C vs. G: OR 1.73; 95 % CI   1.53–1.96), the dominant effect model (CC vs. CG+GG: OR 1.61; 95 % CI 1.44–1.81), and the recessive effect model (CC+CG vs. GG: OR 2.66; 95 % CI 2.28–3.11). Furthermore, the effect of rs738409 G allele on liver oncogenesis was higher in alcoholic liver disease (OR 2.55), compared to chronic hepatitis C/B (OR 1.32) and other diseases (OR 2.27). The results suggested that rs738409 polymorphism was significantly associated with HCC risk and it could be used as one risk factor for HCC.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1NN3wtK
via IFTTT

Role of implant configurations supporting three-unit fixed partial denture on mandibular bone response: biological-data-based finite element study

Summary

Implant-supported fixed partial denture with cantilever extension can transfer the excessive load to the bone around implants and stress/strain concentration potentially leading to bone resorption. This study investigated the effects of implant configurations supporting three-unit fixed partial denture (FPD) on the stress and strain distribution in the peri-implant bone by combining clinically measured time-dependent loading data and finite element (FE) analysis. A 3-dimensional mandibular model was constructed based on computed tomography (CT) images. Four different configurations of implants supporting 3-unit FPDs, namely three implant-supported FPD, conventional three-unit bridge FPD, distal cantilever FPD and mesial cantilever FPD, were modelled. The FPDs were virtually inserted to the molar area in the mandibular FE models. The FPDs were loaded according to time-dependent in vivo-measured 3-dimensional loading data during chewing. The von Mises stress (VMS) and equivalent strain (EQS) in peri-implant bone regions were evaluated as mechanical stimuli. During the chewing cycles, the regions near implant necks and bottom apexes experienced high VMS and EQS than the middle regions in all implant-supported FPD configurations. Higher VMS and EQS values were also observed at the implant neck region adjacent to the cantilever extension in the cantilevered configurations. The patient-specific dynamic loading data and CT-based reconstruction of full 3D mandibular allowed us to model the biomechanical responses more realistically. The results provided data for clinical assessment of implant configuration to improve longevity and reliability of the implant-supported FPD restoration.

from Rehabilitation via xlomafota13 on Inoreader http://ift.tt/27SC6Jy
via IFTTT

Patient factors associated with non-attendance at colonoscopy after a positive screening faecal occult blood test

Journal of Medical Screening

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkLsV
via IFTTT

Adjuvant gemcitabine monotherapy for resectable perihilar cholangiocarcinoma with lymph node involvement: A propensity score matching analysis

Surgery Today

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1s985ER
via IFTTT

Randomized phase II study of GS-4774 as a therapeutic vaccine in virally suppressed patients with chronic hepatitis B

Journal of Hepatology

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNHy0
via IFTTT

Is lateral pelvic node dissection necessary after preoperative chemoradiotherapy for rectal cancer patients with initially suspected lateral pelvic node?

Surgery

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkpT2
via IFTTT

The spread of hepatitis C virus genotype 1a in North America: A retrospective phylogenetic study

The Lancet Infectious Diseases

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNhYw
via IFTTT

Associations of TM6SF2 167K allele with liver enzymes and lipid profile in children: The PANIC Study

Pediatric Research

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkJkG
via IFTTT

The effects of the DDS-1 strain of lactobacillus on symptomatic relief for lactose intolerance - A randomized, double-blind, placebo-controlled, crossover clinical trial

Nutrition Journal

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNElO
via IFTTT

New Findings in HCV genotype distribution in selected West European, Russian and Israeli Regions

Journal of Clinical Virology

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYlg62
via IFTTT

A prospective, multicenter phase I/II study of induction chemotherapy with docetaxel, cisplatin and fluorouracil (DCF) followed by chemoradiotherapy in patients with unresectable locally advanced esophageal carcinoma

Cancer Chemotherapy and Pharmacology

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNlHQ
via IFTTT

Role of metastasectomy for recurrent/metastatic gastrointestinal stromal tumors based on an analysis of the Kinki GIST registry

Surgery Today

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkYMD
via IFTTT

Risk for gastrointestinal perforation among rheumatoid arthritis patients receiving tofacitinib, tocilizumab, or other biologics

Arthritis & Rheumatism

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNtag
via IFTTT

Consistency of patient-reported outcomes after cholecystectomy and their implications on current surgical practice: A prospective multicenter cohort study

Surgical Endoscopy

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkOEV
via IFTTT

Pathogen Prevalence and Antimicrobial Susceptibility Among Enterobacteriaceae Causing Hospital-Associated Intra-abdominal Infections in Adults in the United States (2012–2013)

Clinical Therapeutics

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNElG
via IFTTT

A phase 1, dose-ranging study of the anti-matrix metalloproteinase-9 monoclonal antibody GS-5745 versus placebo for ulcerative colitis

Alimentary Pharmacology and Therapeutics

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkCWi
via IFTTT

Long Term Survival in Persons with Hemophilia and Chronic Hepatitis C: 40 Year Outcomes of a Large Single Center Cohort

American Journal of Hematology

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNBq0
via IFTTT

Prevalence and risk factors of advanced colorectal neoplasms in asymptomatic Korean people between 40 and 49 years of age

Journal of Gastroenterology and Hepatology

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYkR3y
via IFTTT

Effect of early full-calorie nutrition support following esophagectomy: A randomized controlled trial

Journal of Parenteral and Enteral Nutrition

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhN7QR
via IFTTT

Child diarrhoea and nutritional status in rural Rwanda: A cross-sectional study to explore contributing environmental and demographic factors

Tropical Medicine & International Health

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1YYlb2e
via IFTTT

Capnography standards for outside the operating room.

Purpose of review: Standards for capnography inside operating theatres in high and middle-income countries are well recognized and implemented. This review examines recent standards and recommendations for the use of capnography outside the operating room and their rationale and development. Recent findings: The landmark publication of the Royal College of Anaesthetists and Difficult Airway Society's National Audit Project 4 report provided compelling evidence of airway deaths and a significant patient harm occurring outside the operating room, particularly in ICUs and to a lesser extent in emergency departments. Up to 74% of these deaths could have been prevented by capnography. This provided a serious wake up call for relevant clinicians. As a result, there have recently been new standards published for the use of capnography in these and other areas of the hospital. Waveform capnography can also reflect cardiac output, as the 2015 resuscitation guidelines emphasized. Work still needs to be done on implementing all of these new standards. Summary: Established standards for using capnography within the operating theatre have significantly improved patient safety and it is hoped that the recent publication of new but similar capnography standards for application outside the operating theatre will do the same there. The reasons for the current low levels of implementation of some of these standards outside the operating room are worthy of further research. Copyright (C) 2016 YEAR Wolters Kluwer Health, Inc. All rights reserved.

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/1WShgqy
via IFTTT

Four-times-daily dosing of rabeprazole with sitafloxacin, high-dose amoxicillin, or both for metronidazole-resistant infection with Helicobacter pylori in Japan

Helicobacter

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNBq4
via IFTTT

Postoperative intermediate care unit and life-threatening complications: How much and how are they linked?.

No abstract available

from Anaesthesiology via xlomafota13 on Inoreader http://ift.tt/1sPjL0a
via IFTTT

Changes in gene expression of neo-squamous mucosa after endoscopic treatment for dysplastic Barrett’s esophagus and intramucosal adenocarcinoma

United European Gastroenterology Journal

from Gastroenterology via xlomafota13 on Inoreader http://ift.tt/1WhNg6P
via IFTTT

E74-like factor (ELF3) and NFκB regulate lipocalin-2 expression in chondrocytes

Abstract

The E74-like factor 3 (ELF3) is a transcription factor induced by inflammatory cytokines in chondrocytes that increases gene expression of catabolic and inflammatory mediators. Lipocalin-2 (LCN2) is a novel adipokine that negatively impacts articular cartilage, triggering catabolic and inflammatory responses in chondrocytes. Here, we investigated the control of LCN2 gene expression by ELF3 in the context of IL-1-driven inflammatory responses in chondrocytes. The interaction of ELF3 and NFκB in modulating LCN2 levels was also explored. LCN2 mRNA and protein levels, as well those of several other ELF3 target genes, were determined by RT-qPCR and Western blotting. Human primary chondrocytes, primary chondrocytes from wild type and Elf3 knockout mice, and immortalized human T/C-28a2 and murine ATDC5 cell lines were used in in vitro assays. The activities of various gene reporter constructs were evaluated by luciferase assays. Gene overexpression or knockdown was performed using specific expression vectors or siRNA technology, respectively. ELF3 overexpression transactivated the LCN2 promoter and increased the IL-1-induced mRNA and protein levels of LCN2, as well as the mRNA expression of other pro-inflammatory mediators, in human and mouse chondrocytes. We also identified a collaborative loop between ELF3 and NFκB that amplifies the induction of LCN2. Our findings show a novel role for ELF3 and NFκB in the induction of the pro-inflammatory adipokine LCN2, providing additional evidence of the interaction between ELF3 and NFκB in modulating inflammatory responses, and a better understanding of the mechanisms of action of ELF3 in chondrocytes.

This article is protected by copyright. All rights reserved

from Physiology via xlomafota13 on Inoreader http://ift.tt/1WhKONJ
via IFTTT

Genetic, Epidemiologic and Clinicopathologic Studies of Japanese Asian Patients with Birt-Hogg-Dubé Syndrome

ABSTRACT

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by fibrofolliculomas, pulmonary cysts and renal cell carcinomas (RCCs). The affected individuals inherit germline mutations in the folliculin gene (FLCN). We investigated the mutation spectrum and clinicopathologic findings of 312 patients from 120 different families (119 Japanese and 1 Taiwanese). A total of 31 different FLCN sequence variants were identified. The majority were c.1285dupC (n = 34), c.1533_1536delGATG (n = 25), and c.1347_1353dupCCACCCT (n = 19). Almost all patients presented with pulmonary cysts. The incidence of RCCs in FLCN mutation carriers over the age of 40 was 34.8 % (40/115). Fifty-five RCC lesions were surgically resected; most were either chromophobe RCC (n = 24; 43.6 %) or hybrid oncocytic/chromophobe tumors (19; 34.5 %). Seventy-six of 156 FLCN mutation carriers (120 probands and 36 sibs, 48.7 %) had skin papules; however, cutaneous manifestations were so subtle that only one patient voluntarily consulted dermatologists. Japanese Asian BHD families have 3 FLCN mutational hotspots. Recurrent episodes of pneumothoraces are the major symptoms suggestive of a BHD diagnosis in our cohort. Characteristic features of lung and kidney lesions may be more informative than fibrofolliculomas as diagnostic criteria for BHD in the Japanese Asian population.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1UcTLV9
via IFTTT

Next Generation Sequencing of Chinese Stage IV Lung Cancer Patients Reveals an Association between EGFR Mutation Status and Survival Outcome

Abstract

Large-scale genomic characterization of Non-Small Cell Lung Cancer (NSCLC) has revealed several putative oncogenic driver mutations that may constitute druggable therapeutic targets. However, there are little data to suggest that such gene alterations have clinical relevance. Over 12 consecutive months, tumor biopsy samples from 80 patients with stage IV NSCLC were analyzed for mutations in selected exons of 508 cancer related genes using next generation sequencing. From 85 specimens referred for genomic characterization, 80 (94%) specimens were successfully genotyped, and all had identifiable somatic alterations. Epidermal growth factor receptor (EGFR) and TP53 genes contained the highest frequency of observed mutations (65% and 40%, respectively) in the Stage IV NSCLC cases. Notably, patients with EGFR mutations demonstrated a significantly shorter survival time compared to patients expressing wild-type EGFR (P=0.0053). Moreover, of the 32 patients harboring EGFR mutations, EGFR-L858R mutant patients demonstrated a significantly shorter survival time compared to patients with other EGFR mutations (P=0.036). In conclusion, tumors from stage IV NSCLC patients harbor characteristic gene alterations, of which EGFR L858R in particular appears to be a poor prognostic factor for overall survival.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1s98siX
via IFTTT

Spinocerebellar ataxia: relationship between phenotype and genotype–A Review

Abstract

Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 SCAs have been characterized, and include SCA1 to 40. The pathogenic genes of 28 SCAs were identified. In recent years, with the widespread clinical use of next-generation sequencing, the genes underlying SCAs, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype-genotype relationship in SCAs. We reviewed the recent clinical advances, genetic features and phenotype-genotype correlations involving each SCA and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype-genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.

from Genetics via xlomafota13 on Inoreader http://ift.tt/1UcU1TO
via IFTTT