scholarly journals A MicroRNA Signature for Evaluation of Risk and Severity of Autoimmune Thyroid Diseases

2018 ◽  
Vol 103 (3) ◽  
pp. 1139-1150 ◽  
Author(s):  
Rebeca Martínez-Hernández ◽  
Miguel Sampedro-Núñez ◽  
Ana Serrano-Somavilla ◽  
Ana M Ramos-Leví ◽  
Hortensia de la Fuente ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Peripheral Blood ◽  
Thyroid Tissue ◽  
Thyroid Diseases ◽  
Next Generation ◽  
Serum Samples ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Qrt Pcr ◽  
Generation Sequencing

Abstract Context Circulating microRNAs (miRNAs) are emerging as an interesting research area because of their potential role as novel biomarkers and therapeutic targets. Their involvement in autoimmune thyroid diseases (AITDs) has not been fully explored. Objective To compare the expression profile of miRNAs in thyroid tissue from patients with AITD and controls, using next-generation sequencing, further validated our findings in thyroid and serum samples. Design Twenty fresh-frozen thyroid tissues (15 from patients with AITD and 5 from controls) were used for miRNA next-generation sequencing. Thirty-six thyroid samples were recruited for the qRT-PCR validation test and 58 serum samples for further validation in peripheral blood. Results Expression of several miRNAs that had been previously associated with relevant immunological functions was significantly dysregulated. Specifically, eight differentially expressed miRNAs (miR-21-5p, miR-142-3p, miR-146a-5p, miR-146b-5p, miR-155-5p, miR-338-5p, miR-342-5p, and miR-766-3p) were confirmed using qRT-PCR in thyroid samples, and three had the same behavior in tissue and serum samples (miR-21-5p, miR-142-3p, and miR-146a-5p). Furthermore, when the expression of these miRNAs was assessed together with five additional ones previously related to AITD in peripheral blood, the expression of five (miR-Let7d-5p, miR-21-5p, miR-96-5p, miR-142-3p, and miR-301a-3p) was significantly expressed in AITD and, in patients with Graves disease (GD), was correlated with a higher severity of disease, including active ophthalmopathy, goiter, higher antibody titers, and/or higher recurrence rates. Conclusions The present findings identify a serum five-signature miRNA that could be an independent risk factor for developing AITD and a predisposition of a worse clinical picture in patients with GD.

scholarly journals Panel of serum miRNAs as potential non-invasive biomarkers for pancreatic ductal adenocarcinoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Imteyaz Ahmad Khan ◽  
Safoora Rashid ◽  
Nidhi Singh ◽  
Sumaira Rashid ◽  
Vishwajeet Singh ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pancreatic Ductal Adenocarcinoma ◽  
Early Stage ◽  
Ductal Adenocarcinoma ◽  
Next Generation ◽  
Serum Samples ◽  
Tissue Samples ◽  
Non Invasive ◽  
Specific Symptoms ◽  
Generation Sequencing

AbstractEarly-stage diagnosis of pancreatic ductal adenocarcinoma (PDAC) is difficult due to non-specific symptoms. Circulating miRNAs in body fluids have been emerging as potential non-invasive biomarkers for diagnosis of many cancers. Thus, this study aimed to assess a panel of miRNAs for their ability to differentiate PDAC from chronic pancreatitis (CP), a benign inflammatory condition of the pancreas. Next-generation sequencing was performed to identify miRNAs present in 60 FFPE tissue samples (27 PDAC, 23 CP and 10 normal pancreatic tissues). Four up-regulated miRNAs (miR-215-5p, miR-122-5p, miR-192-5p, and miR-181a-2-3p) and four down-regulated miRNAs (miR-30b-5p, miR-216b-5p, miR-320b, and miR-214-5p) in PDAC compared to CP were selected based on next-generation sequencing results. The levels of these 8 differentially expressed miRNAs were measured by qRT-PCR in 125 serum samples (50 PDAC, 50 CP, and 25 healthy controls (HC)). The results showed significant upregulation of miR-215-5p, miR-122-5p, and miR-192-5p in PDAC serum samples. In contrast, levels of miR-30b-5p and miR-320b were significantly lower in PDAC as compared to CP and HC. ROC analysis showed that these 5 miRNAs can distinguish PDAC from both CP and HC. Hence, this panel can serve as a non-invasive biomarker for the early detection of PDAC.

scholarly journals Genome-wide characterization of copy number variations in the host genome in genetic resistance to Marek's disease using next generation sequencing

2020 ◽  
Author(s):  
Hao Bai ◽  
Yanghua He ◽  
Yi Ding ◽  
Huanmin Zhang ◽  
Jilan Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Copy Number ◽  
Marek's Disease ◽  
Neoplastic Disease ◽  
Marek’S Disease ◽  
Next Generation ◽  
Qrt Pcr ◽  
Genome Wide ◽  
A Genome ◽  
Generation Sequencing

Abstract Background: Marek’s disease (MD) is a highly neoplastic disease primarily affecting chickens, and remains as a chronic infectious disease that threatens the poultry industry. Copy number variation (CNV) has been examined in many species and is recognized as a major source of genetic variation that directly contributes to phenotypic variation such as resistance to infectious diseases. Two highly inbred chicken lines 63 (MD-resistant) and 72 (MD-susceptible), as well as their F1 generation and six recombinant congenic strains (RCSs) with varied susceptibility to MD, are considered as ideal models to identify the complex mechanisms of genetic and molecular resistance to MD.Results: In the present study, to unravel the potential genetic mechanisms underlying resistance to MD, we performed a genome-wide CNV detection using next generation sequencing on the inbred chicken lines with the assistance of CNVnator. As a result, a total of 1,649 CNV regions (CNVRs) were successfully identified after merging all the nine datasets, of which 90 CNVRs were overlapped across all the chicken lines. Within these shared regions, 1,360 harbored genes were identified. In addition, 55 and 44 CNVRs with 62 and 57 harbored genes were specifically identified in line 63 and 72, respectively. Bioinformatics analysis showed that the nearby genes were significantly enriched in 36 GO terms and 6 KEGG pathways including JAK/STAT signaling pathway. Ten CNVRs (nine deletions and one duplication) involved in 10 disease-related genes were selected for validation by using qRT-PCR, all of which were successfully confirmed. Finally, qRT-PCR was also used to validate two deletion events in line 72 that were definitely normal in line 63. One high-confidence gene, IRF2 was identified as the most promising candidate gene underlying resistance and susceptibility to MD in view of its function and overlaps with data from previous study.Conclusions: Our findings provide valuable insights for understanding the genetic mechanism of resistance to MD and the identified gene and pathway could be considered as the subject of further functional characterization.

Vitamin D and autoimmune thyroid diseases (part 1)

2021 ◽  
pp. 6-15
Author(s):  
N. V. Volkova ◽  
A. V. Solntseva
Keyword(s):  
Vitamin D ◽  
Autoimmune Diseases ◽  
Immune Cells ◽  
Therapeutic Potential ◽  
Immunosuppressive Agents ◽  
Thyroid Tissue ◽  
Thyroid Diseases ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Autoimmune Pathology

Autoimmune thyroiditis (AIT) and Graves’ disease (GD) are common autoimmune diseases, and their prevalence assessed as 5 % of general population. Currently, selective immunosuppressive agents for pathogenetic treatment of autoimmune pathology are being developed. Vitamin D with the known anti­inflammatory and immunoregulatory properties, is also of great interest. The first part of the article reviews the roles of various immune cells in the pathogenesis of autoimmune thyroid diseases, which is necessary to reveal the therapeutic potential of calcitriol in these disorders. Classically, AIT was considered to be mediated by T­helpers type 1 (Th1), and GD — by T­helpers type 2 (Th2). This misunderstanding was based on the idea that humoral immunity is controlled by Th2 cytokines, and cellular immunity — by Th1. In the past decades, the role of new subsets of immune cells in the pathogenesis of autoimmune thyroid diseases is being studied, displacing the traditional paradigm of Th1/Th2 dichotomy. It has been established that T­helpers type 17 (Th17) play an important role in the development of various inflammatory and autoimmune diseases, previously classified as Th1­dependent pathologies. The involvement of T­ and B­regulatory lymphocytes in the autoimmune process is also of particular interest. It was found that these cells accumulate in inflamed thyroid tissue in patients with thyroid pathology, but they are unable to suppress the immune response effectively. Further research will help to find out which immune cells can become targets for vitamin D agonists in the complex treatment of autoimmune diseases.

Association of IFNG gene methylation in peripheral blood cells with the development and prognosis of autoimmune thyroid diseases

Cytokine ◽  
2019 ◽  
Vol 123 ◽  
pp. 154770 ◽  
Author(s):  
Hidemi Hashimoto ◽  
Mikio Watanabe ◽  
Naoya Inoue ◽  
Nachi Hirai ◽  
Emi Haga ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Blood Cells ◽  
Thyroid Diseases ◽  
Peripheral Blood Cells ◽  
Gene Methylation ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Ifng Gene

scholarly journals Detection of classical Hodgkin lymphoma specific sequence in peripheral blood using a next-generation sequencing approach

2015 ◽  
Vol 169 (5) ◽  
pp. 689-693 ◽  
Author(s):  
Yasuhiro Oki ◽  
Sattva S. Neelapu ◽  
Michelle Fanale ◽  
Larry W. Kwak ◽  
Luis Fayad ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hodgkin Lymphoma ◽  
Peripheral Blood ◽  
Classical Hodgkin Lymphoma ◽  
Next Generation ◽  
Specific Sequence ◽  
Generation Sequencing

scholarly journals Viral Surveillance in Serum Samples From Patients With Acute Liver Failure By Metagenomic Next-Generation Sequencing

2017 ◽  
Vol 65 (9) ◽  
pp. 1477-1485 ◽  
Author(s):  
Sneha Somasekar ◽  
Deanna Lee ◽  
Jody Rule ◽  
Samia N Naccache ◽  
Mars Stone ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Next Generation ◽  
Serum Samples ◽  
Viral Surveillance ◽  
Generation Sequencing

scholarly journals Pediatric Brainstem Encephalitis Outbreak Investigation with Metagenomic Next-Generation Sequencing

2018 ◽  
Author(s):  
Kristoffer E. Leon ◽  
Didac Casas-Alba ◽  
Akshaya Ramesh ◽  
Lillian M. Khan ◽  
Cristian Launes ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Phylogenetic Analyses ◽  
P Value ◽  
Brainstem Encephalitis ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Qrt Pcr ◽  
Mcnemar’S Test ◽  
Generation Sequencing ◽  
Mcnemar's Test

AbstractIn 2016, Catalonia experienced a pediatric brainstem encephalitis outbreak caused by enterovirus A71 (EV-A71). Conventional testing identified EV in peripheral body sites, but EV was rarely identified in cerebrospinal fluid (CSF). RNA was extracted from CSF (n=20), plasma (n=9), stool (n=15) and nasopharyngeal samples (n=16) from 10 children with brainstem encephalitis or encephalomyelitis and 10 contemporaneous pediatric controls with presumed viral meningitis or encephalitis. Unbiased complementary DNA libraries were sequenced, and microbial pathogens were identified using a custom bioinformatics pipeline. Full-length virus genomes were assembled for phylogenetic analyses. Metagenomic next-generation sequencing (mNGS) was concordant with qRT-PCR for all samples positive by PCR (n=25). In virus-negative samples (n=35), mNGS detected virus in 28.6% (n=10), including 5 CSF samples. mNGS co-detected EV-A71 and another EV in 5 patients. Overall, mNGS increased the proportion of EV-positive samples from 42% (25/60) to 57% (34/60) (McNemar’s test; p-value = 0.0077). For CSF, mNGS doubled the number of pathogen-positive samples (McNemar’s test; p-value = 0.074). Using phylogenetic analysis, the outbreak EV-A71 clustered with a neuroinvasive German EV-A71 isolate. Brainstem encephalitis specific, non-synonymous EV-A71 single nucleotide variants were not identified. mNGS demonstrated 100% concordance with clinical qRT-PCR of EV-related brainstem encephalitis and significantly increased the detection of enteroviruses. Our findings increase the probability that neurologic complications observed were virus-induced rather than para-infectious. A comprehensive genomic analysis confirmed that the EV-A71 outbreak strain was closely related to a neuroinvasive German EV-A71 isolate. There were no clear-cut viral genomic differences that discriminated between patients with differing neurologic phenotypes.

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