Τρίτη 16 Μαΐου 2017

Hepatozoon caimani Carini, 1909 (Adeleina: Hepatozoidae) in wild population of Caiman yacare Daudin, 1801 (Crocodylia: Alligatoridae), Pantanal, Brazil

Abstract

Previous studies showed infections of Hepatozoon caimani in wild populations of caimans in wide regions from Brazil; some of those demonstrated that trophic chain are linked to natural infections through paratenic hosts or by the direct ingestion of vectors. These studies life cycle of H. caimani contributed inestimably to the knowledge of transmission routes, yet but lack enhancement tools for better detail of parasite. This study reports the forms in the blood and tissues, and also partial molecular characterization of the H. caimani following part of the 18S rRNA region. In the southern Pantanal, there were sampling 39 adult caimans (Caiman yacare), where 31 (79.5%) were parasitized by H. caimani. Free gametocytes had an average intensity of 19.6% and intraerythrocytic forms 7.42%, in the blood smears. In stained smears of the liver and lungs of naturally infected caimans which were examined, monozoic and dizoic cysts were found in these tissues, generally next to the vessels. In the histopathology, meronts were observed in the wall of vessels from liver and kidney ducts. Blood samples were forwarded to PCR process and produced amplicons with about 600 and 900 bp, respectively, for the primers HEPF300/HEP900 and HEMO1/HEMO2. This was the first report of molecular confirmation of Hepatozoon in populations of naturally infected caimans of morphological detail of the gametocytes in scanning electron microscopy and histology of merogony in livers and kidneys of C. yacare.



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Ant-mediated indirect negative effects of aphids on spider mites living on the same plant

Abstract

Some aphid species are known to have mutualistic relationships with tending ants; that is, the aphids supply the ants with honeydew and are protected by the ants. Although spider mites and honeydew-producing aphids often live on the same host plant, it has not previously been determined whether the ants tending these aphids affect spider mite survival. Using replicated microcosms, each containing an artificial ant nest, we compared experimentally the survival of two-spotted spider mites on kidney bean plants with and without cowpea aphids. Our results showed significantly fewer spider mites on plants with aphids, indicating that spider mites were preyed upon by ants tending aphids. On the other hand, there was no detectable plant-mediated indirect effect of aphids on mite performance in the microcosms. Therefore, we conclude that aphids indirectly reduced the survival of spider mites living on the same host plant via their tending ants. Nonetheless, spider mites did not avoid settling on plant leaves infested with aphids.



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CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants

Abstract

Compared with earlier more restricted sequencing technologies, identification of rare disease variants using whole genome sequence has the possibility of finding all causative variants, but issues of data quality and an overwhelming level of background variants complicate the analysis. The CAGI4 SickKids clinical genome challenge provided an opportunity to assess the landscape of variants found in a difficult set of 25 unsolved rare disease cases. To address the challenge, we developed a three-stage pipeline, first carefully analyzing data quality, then classifying high quality gene specific variants into seven categories, and finally examining each candidate variant for compatibility with the often complex phenotypes of these patients for final prioritization. Variants consistent with the phenotypes were found in 24 out of the 25 cases, and in a number of these, there are prioritized variants in multiple genes. Data quality analysis suggests that some of the selected variants are likely incorrect calls, complicating interpretation. The data providers followed up on three suggested variants with Sanger sequencing, and in one case a prioritized variant was confirmed as likely causative by the referring physician, providing a diagnosis in a previously intractable case.

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Reporting practices for unsolicited and secondary findings from next generation sequencing technologies: Perspectives of laboratory personnel

ABSTRACT

While next generation sequencing has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported. Little research has been conducted exploring which of these variants are reported in practice.

26 interviews were conducted with 27 laboratory personnel, representing 24 laboratories in Europe (12), Canada (5) and Australasia (7) to explore their reporting practices. There is considerable variation between laboratories in the reporting of UF. While some limit their reporting to findings that are relevant to the clinical question, others report UF to varying degrees. In addition, most laboratory personnel interviewed said that their laboratories do not actively search for secondary findings in disease-causing genes unrelated to the clinical question, such as those suggested by the ACMG. Our study highlights that laboratories are still grappling with decisions about which UF to report from NGS and are calling for more guidance.

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CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease

ABSTRACT

Understanding the basis of complex trait disease is a fundamental problem in human genetics. The CAGI Crohn's Exome challenges are providing insight into the adequacy of current disease models by requiring participants to identify which of a set of individuals has been diagnosed with the disease, given exome data. For the CAGI4 round, we developed a method that used the genotypes from exome sequencing data only to impute the status of Genome Wide Association Studies (GWAS) marker single nucleotide polymorphisms (SNPs). We then used the imputed genotypes as input to several machine learning methods that had been trained to predict disease status from marker SNP information. We achieved the best performance using Naïve Bayes and with a consensus machine learning method, obtaining an area under the curve (AUC) of 0.72, larger than other methods used in CAGI4. We also developed a model that incorporated the contribution from rare missense variants in the exome data, but this performed less well. Future progress is expected to come from the use of whole genome data rather than exomes.

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IJMS, Vol. 18, Pages 856: Natural Killer Cells Response to IL-2 Stimulation Is Distinct between Ascites with the Presence or Absence of Malignant Cells in Ovarian Cancer Patients

Peritoneal ascites are a distinguishable feature of patients with advanced epithelial ovarian cancer (EOC). The presence of different lymphocyte subsets has been reported in EOC-associated ascites, which also can or not contain malignant cells. The goal of this study was to analyze the functional characteristics of natural killer (NK) cells from EOC-associated ascites in terms of their expression of activating receptors and ascites’ contents of lymphocyte subtypes, cytokine profile and presence of EOC cells. NK cell function was evaluated by the expression of the degranulation marker CD107a in resting and interleukin (IL)-2 stimulated NK cells from ascites and blood. Degranulation of NK cells from EOC cell-free ascites was significantly (p < 0.05) higher than all the other groups, either in their resting state or after IL-2 stimulation, suggesting a previous local stimulation. In contrast, treatment with IL-2 had no effect on NK cells from ascites with EOC cells. The amount of regulatory T cells was significantly higher in ascites with EOC cells compared to EOC cell-free ascites. Ascites with EOC cells also had higher levels of tumor necrosis factor (TNF)-α, suggesting inflammation related to the malignancy. In conclusion, the functional performance of NK cells was distinct between EOC cell-free ascites and ascites with EOC cells. The impairment of NK cell response to IL-2 in ascites with EOC cells was consistent with an immunosuppressive tumor microenvironment.

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Title Page/Sections Editors

Publication date: May 2017
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, Volume 1860, Issue 5





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