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  • 1
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    Unknown
    Oxford University Press
    Publication Date: 2014-09-24
    Description: The genus Campylobacter includes some of the most relevant pathogens for human and animal health; the continuous effort in their characterization has also revealed new species putatively involved in different kind of infections. Nowadays, the available genomic data for the genus comprise a wide variety of species with different pathogenic potential and niche preferences. In this work, we contribute to enlarge this available information presenting the first genome for the species Campylobacter sputorum bv. sputorum and use this and the already sequenced organisms to analyze the emergence and evolution of pathogenicity and niche preferences among Campylobacter species. We found that campylobacters can be unequivocally distinguished in established and putative pathogens depending on their repertory of virulence genes, which have been horizontally acquired from other bacteria because the nonpathogenic Campylobacter ancestor emerged, and posteriorly interchanged between some members of the genus. Additionally, we demonstrated the role of both horizontal gene transfers and diversifying evolution in niche preferences, being able to distinguish genetic features associated to the tropism for oral, genital, and gastrointestinal tissues. In particular, we highlight the role of nonsynonymous evolution of disulphide bond proteins, the invasion antigen B (CiaB), and other secreted proteins in the determination of niche preferences. Our results arise from assessing the previously unmet goal of considering the whole available Campylobacter diversity for genome comparisons, unveiling notorious genetic features that could explain particular phenotypes and set the basis for future research in Campylobacter biology.
    Electronic ISSN: 1759-6653
    Topics: Biology
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  • 2
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    Unknown
    International Scholarly Research Network (ISRN)
    Publication Date: 2013-12-17
    Description: The purpose of this study was to determine the viability of Mycobacterium avium subsp. paratuberculosis (MAP), Escherichia coli (E. coli), and Salmonella Enteritidis (S. Enteritidis) during preparation and refrigerated storage of yogurt. Three yogurts were prepared using pasteurized commercial milk. Each yogurt was artificially contaminated with (1) MAP, (2) E. coli + S. Enteritidis, and (3) MAP + E. coli + S. Enteritidis. Samples were taken during and after the fermentation process until day 20 after inoculation. MAP was not detected during their preparation and short-term storage but was recuperated after starting at 180 min after inoculation storage. Live bacterial counts of E. coli, and S. Enteritidis increased during the first 24 hours, followed by a slight decrease towards the end of the study. In this study it was shown how MAP, E. coli, and S. Enteritidis resisted the acidic conditions generated during the preparation of yogurt and low storage temperatures. This work contributes to current knowledge regarding survival of MAP, E. coli, and S. Enteritidis during preparation and refrigerated storage of yogurt and emphasizes the need to improve hygiene measures to ensure the absence of these pathogenic microorganisms in dairy products.
    Print ISSN: 2090-7478
    Electronic ISSN: 2090-7486
    Topics: Biology
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  • 3
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    Unknown
    International Scholarly Research Network (ISRN)
    Publication Date: 2014-02-27
    Description: The purpose of this study was to determine the viability of Mycobacterium avium subsp. paratuberculosis (MAP), Escherichia coli (E. coli), and Salmonella Enteritidis (S. Enteritidis) during preparation and refrigerated storage of yogurt. Three yogurts were prepared using pasteurized commercial milk. Each yogurt was artificially contaminated with (1) MAP, (2) E. coli + S. Enteritidis, and (3) MAP + E. coli + S. Enteritidis. Samples were taken during and after the fermentation process until day 20 after inoculation. MAP was not detected during their preparation and short-term storage but was recuperated after starting at 180 min after inoculation storage. Live bacterial counts of E. coli, and S. Enteritidis increased during the first 24 hours, followed by a slight decrease towards the end of the study. In this study it was shown how MAP, E. coli, and S. Enteritidis resisted the acidic conditions generated during the preparation of yogurt and low storage temperatures. This work contributes to current knowledge regarding survival of MAP, E. coli, and S. Enteritidis during preparation and refrigerated storage of yogurt and emphasizes the need to improve hygiene measures to ensure the absence of these pathogenic microorganisms in dairy products.
    Print ISSN: 2090-7478
    Electronic ISSN: 2090-7486
    Topics: Biology
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  • 4
    Publication Date: 2015-03-11
    Description: A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22.33, 2q35, 20q11.22-q12 and 14q24.3. Moreover, six additional susceptibility loci were associated with the disease only among Italians. The present study had two aims, first to identify loci involved in DTC risk and then to assess the cumulative effect of the SNPs identified so far in the Italian population. The combined analysis of the previous GWAS and the present Italian study provided evidence of association with rs7935113 (GALNTL4, OR = 1.36, 95%CI 1.20–1.53, p-value = 7.41 × 10−7) and rs1203952 (FOXA2, OR = 1.29, 95%CI 1.16–1.44, p-value = 4.42 × 10−6). Experimental ENCODE and eQTL data suggested that both SNPs may influence the closest genes expression through a differential recruitment of transcription factors. The assessment of the cumulative risk of eleven SNPs showed that DTC risk increases with an increasing number of risk alleles (p-trend = 3.13 × 10−47). Nonetheless, only a small fraction (about 4% on the disease liability scale) of DTC is explained by these SNPs. These data are consistent with a polygenic model of DTC predisposition and highlight the importance of association studies in the discovery of the disease hereditability. Scientific Reports 5 doi: 10.1038/srep08922
    Electronic ISSN: 2045-2322
    Topics: Natural Sciences in General
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  • 5
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    Unknown
    BioMed Central
    Publication Date: 2015-11-10
    Description: Background: The enhancer of zeste-homolog 2 (EZH2) is involved in cancer development through gene silencing by trimethylation of lysine 27 of histone 3 (H3K27me3). The C/C genotype for the EZH2 rs3757441 single-nucleotide polymorphism (SNP) is linked with poor prognosis in metastatic colorectal cancer (CRC), but molecular and pathological characterization of this SNP is lacking. Methods: 119 primary CRCs were analyzed. SNP was evaluated by real-time PCR from colonic healthy tissue, while EZH2 and H3K27me3 expression were studied by immunohistochemistry. We primarily looked for correlation between EZH2 rs3757441 genotypes and EZH2/H3K27me3 expression. Potential associations between EZH2/H3K27me3 expression and clinico-pathological features or KRAS exon 2 and BRAF exon 15 mutations were secondary endpoints. Statistical analysis was performed by chi-square test, T-test or ANOVA. Results: The C/C genotype was significantly associated with higher EZH2 (100 vs. 44 %; P = 0.019) and H3K27me3 (100 vs. 38 %; P = 0.009) staining intensity compared with C/T and T/T. EZH2 3+ staining significantly correlated with stronger H3K27me3 expression (P = 0.039). KRAS and BRAF mutations were not associated with EZH2 or H3K27me3 expression. Conclusion: EZH2 rs3757441 C/C genotype is associated with stronger EZH2 and H3K27me3 immunoreactivity in primary CRC: this SNP may serve as a promising biomarker for EZH2-targeting agents and may add independent information to KRAS and BRAF testing.
    Electronic ISSN: 1471-2407
    Topics: Medicine
    Published by BioMed Central
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  • 6
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    Unknown
    BioMed Central
    Publication Date: 2017-02-21
    Description: Serum β-trace protein (βTP, MW 23–29 kDa) is a marker of GFR impairment in renal patients. Recent papers propose to predict residual renal function (RRF) in maintenance haemodialysis (MHD) patients from serum ...
    Electronic ISSN: 1471-2369
    Topics: Medicine
    Published by BioMed Central
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  • 7
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    Unknown
    BioMed Central
    Publication Date: 2016-12-17
    Description: Campylobacter fetus is a pathogen of major concern for animal and human health. The species shows a great intraspecific variation, with three subspecies: C. fetus subsp. fetus, C. fetu...
    Electronic ISSN: 1746-6148
    Topics: Medicine
    Published by BioMed Central
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  • 8
    Publication Date: 2013-08-13
    Description: Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the approximately 4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9 x 10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 x 10(-10) and P = 7.8 x 10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P 〈 10(-8)), as has been reported previously for autism spectrum disorders.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Epi4K Consortium -- Epilepsy Phenome/Genome Project -- Allen, Andrew S -- Berkovic, Samuel F -- Cossette, Patrick -- Delanty, Norman -- Dlugos, Dennis -- Eichler, Evan E -- Epstein, Michael P -- Glauser, Tracy -- Goldstein, David B -- Han, Yujun -- Heinzen, Erin L -- Hitomi, Yuki -- Howell, Katherine B -- Johnson, Michael R -- Kuzniecky, Ruben -- Lowenstein, Daniel H -- Lu, Yi-Fan -- Madou, Maura R Z -- Marson, Anthony G -- Mefford, Heather C -- Esmaeeli Nieh, Sahar -- O'Brien, Terence J -- Ottman, Ruth -- Petrovski, Slave -- Poduri, Annapurna -- Ruzzo, Elizabeth K -- Scheffer, Ingrid E -- Sherr, Elliott H -- Yuskaitis, Christopher J -- Abou-Khalil, Bassel -- Alldredge, Brian K -- Bautista, Jocelyn F -- Boro, Alex -- Cascino, Gregory D -- Consalvo, Damian -- Crumrine, Patricia -- Devinsky, Orrin -- Fiol, Miguel -- Fountain, Nathan B -- French, Jacqueline -- Friedman, Daniel -- Geller, Eric B -- Glynn, Simon -- Haut, Sheryl R -- Hayward, Jean -- Helmers, Sandra L -- Joshi, Sucheta -- Kanner, Andres -- Kirsch, Heidi E -- Knowlton, Robert C -- Kossoff, Eric H -- Kuperman, Rachel -- McGuire, Shannon M -- Motika, Paul V -- Novotny, Edward J -- Paolicchi, Juliann M -- Parent, Jack M -- Park, Kristen -- Shellhaas, Renee A -- Shih, Jerry J -- Singh, Rani -- Sirven, Joseph -- Smith, Michael C -- Sullivan, Joseph -- Lin Thio, Liu -- Venkat, Anu -- Vining, Eileen P G -- Von Allmen, Gretchen K -- Weisenberg, Judith L -- Widdess-Walsh, Peter -- Winawer, Melodie R -- 1RC2NS070342/NS/NINDS NIH HHS/ -- NS053998/NS/NINDS NIH HHS/ -- NS077274/NS/NINDS NIH HHS/ -- NS077276/NS/NINDS NIH HHS/ -- NS077303/NS/NINDS NIH HHS/ -- NS077364/NS/NINDS NIH HHS/ -- R56AI098588/AI/NIAID NIH HHS/ -- U01 NS053998/NS/NINDS NIH HHS/ -- U01 NS077274/NS/NINDS NIH HHS/ -- U01 NS077276/NS/NINDS NIH HHS/ -- U01 NS077303/NS/NINDS NIH HHS/ -- U01 NS077364/NS/NINDS NIH HHS/ -- U01AI067854/AI/NIAID NIH HHS/ -- UL1 TR000005/TR/NCATS NIH HHS/ -- England -- Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23934111" target="_blank"〉PubMed〈/a〉
    Keywords: Child Development Disorders, Pervasive ; Cohort Studies ; Exome/genetics ; Female ; Fragile X Mental Retardation Protein/metabolism ; Genetic Predisposition to Disease/genetics ; Humans ; Infant ; Intellectual Disability/*genetics/physiopathology ; Lennox Gastaut Syndrome ; Male ; Mutation/*genetics ; Mutation Rate ; N-Acetylglucosaminyltransferases/genetics ; Probability ; Receptors, GABA-A/genetics ; Spasms, Infantile/*genetics/physiopathology
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Cell biology and toxicology 10 (1994), S. 163-166 
    ISSN: 1573-6822
    Keywords: P-glycoprotein ; cultured hepatocytes ; rat strain ; rhodamine-123
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The amount and activity of the multi-drug transport P-glycoprotein (Pgp) have been measured in cultured hepatocytes derived from different rat strains. A marked increase in Pgp, as revealed by Western blotting, occurred 48 h after seeding in hepatocytes from Sprague-Dawley, Wistar and Fischer 344 rats, the last showing the highest value. The addition of dexamethasone (DEX) to culture medium delayed Pgp overexpression in all the strains, proportionally to the protein amount in the absence of hormone. The R-123 functional test for Pgp showed that Fischer 344 hepatocytes had the lowest ability to extrude the fluorescent dye as compared with Sprague-Dawley or Wistar rats. These results suggest that the Fischer 344 rat is more prone than other strains to culture stressing conditions, leading to an overexpression of Pgp that is not necessarily functional.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    ISSN: 1352-8661
    Keywords: gadolinium-DTPA ; dynamic MR imaging ; hepatic tumors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Physics
    Notes: Abstract Using a simple modification of a standard spin-echo sequence which enables acquisition of three breath-hold images in 15 s, dynamic enhancement of 30 histologically proven hepatocellular carcinomas (17 native tumors, 6 completely necrotic tumors after nonsurgical treatments, and 7 tumors with viable and necrotic portions) after intravenous injection of gadolinium-DTPA was evaluated. Native hepatocellular carcinomas and viable portions in treated nodules showed elective enhancement in images obtained 40 s after contrast injection. Contrast between these lesions and the normal liver decreased thereafter. No contrast uptake was seen in entirely necrotic nodules and necrotic portions of treated nodules. Because of the capability to demonstrate the elective arterial blood supply typical of hepatocellular carcinoma, breath-holdT 1-weighted spin-echo sequence should replace conventionalT 1-weighted images for the evaluation of intravenously administered gadolinium-DTPA enhancement of this tumor before and after nonsurgical treatments.
    Type of Medium: Electronic Resource
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