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Background: The objective of this study is to evaluate the diagnostic accuracy of plasma‐based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell‐free DNA from patients with ameloblastoma. Methods: This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma‐based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of BRAF V600E mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild‐type BRAF lesions were included. The participants underwent plasma circulating cell‐free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele‐specific TaqMan™ real‐time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated. Results: Twelve patients with conventional ameloblastoma were included. BRAF V600E mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma‐based liquid biopsy circulating cell‐free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma‐based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell‐free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%. Conclusion: Plasma‐based liquid biopsy does not seem to be an accurate method for the detection of the BRAF V600E mutation in circulating circulating cell‐free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features. [ABSTRACT FROM AUTHOR]

Aim: To verify the association of the TNF‐α, IL‐6, and IL‐10 polymorphisms with chronic temporomandibular disorder pain development in female elderly patients. Methods: Participants were evaluated according to Diagnostic Criteria for Temporomandibular Disorders. The genomic DNA was extracted from blood according to the Salting Out method followed by a quantification using the NanoDrop spectrophotometer. The –308G/A TNF‐α polymorphism analysis was performed by the polymerase chain reaction‐restriction fragment length polymorphism technique, the determination of –174G/C IL‐6 polymorphism was performed by polymerase chain reaction, and the evaluation of the –1082A/G IL‐10 polymorphism was carried out by polymerase chain reaction‐ allele‐specific amplification. Data were analyzed using the BioEstat 5.3 software. Results: The –308G/A TNF‐α polymorphism showed a significant difference when genotypes of cases with chronic temporomandibular disorder pain and controls were compared (p =.025). There was a lack of association regarding the –174G/C IL‐6 polymorphism (p =.286) however, a positive association between the –1082A/G IL‐10 polymorphism with chronic temporomandibular disorder was observed (p =.020). Conclusion: The analyzed data of elderly subjects support the possible involvement of the GA genotype of the –308G/A TNF‐α and the AA genotype of the –1082A/G IL‐10 polymorphisms in the pathogenesis of chronic temporomandibular disorder pain. [ABSTRACT FROM AUTHOR]

This study evaluated IL-6 salivary levels as well as the +3954 polymorphism of IL-1β in patients with burning mouth syndrome and healthy individuals, through case-control studies. This systematic review and meta-analysis followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We conducted this research in PubMed/MEDLINE, Cochrane Library and Web of Science databases. The risk of bias was measured based in the Newcastle-Ottawa Scale. Researches with a group of patients with burning mouth syndrome and a control group in which the presence of the +3954 polymorphism of IL-1β and/ or IL-6 salivary levels through non-stimulated saliva were evaluated to detect if this interleukin concentrations are increased in patients and if the polymorphism is a risk factor for this syndrome. We identified seven studies with total of 440 participants, 229 patients with burning mouth syndrome and 211 healthy controls, ages 24-84 years old. The female gender was predominant. Patients in the majority of studies did not present increased levels of IL-6 and the +3954 polymorphism of IL-1β is not a risk factor for this syndrome. A few studies researched biomarkers in this pathology and more investigations are required not only to identify salivary levels and the polymorphism evaluated, but also other interleukins and polymorphisms in order to clarify the etiopathogenesis of this syndrome as well as for propose new diagnostic methods and treatments. [ABSTRACT FROM AUTHOR]

Hepatitis C virus (HCV) is the major cause of hepatocellular carcinoma (HCC). The risk to develop HCC increases with the severity of liver inflammation and hepatic fibrosis. It is believed that a balance between the releases of pro- and anti-inflammatory cytokines will determine the clinical course of HCV and the risk to develop HCC. The inteleukin-10 (IL-10) and the tumor necrosis factor alpha (TNF-α) play key roles in the Th1 and Th2 balance during the inflammatory response against HCV. The aim of the present study was to investigate the association between polymorphisms in TNF-α -308 G>A (rs1800629), IL-10 -1082 G>A (rs1800896) and -819/-592 (rs1800871/rs1800872) with HCC risk in individuals with HCV. The present study evaluated 388 chronic HCV patients. Polymorphisms were determined by real-time PCR. Diplotypes associated with low IL-10 production and the TNF-α GG genotype were significantly associated with HCC occurrence after multivariate logistic regression analysis ( P = 0.027 and P = 0.029, respectively). Additionally, the IL-10 -819 (-592) TT (AA) genotype was significantly associated with multiple nodules and HCC severity according to BCLC staging ( P = 0.044 and P = 0.025, respectively). Patients carrying low production haplotypes of IL-10 and the TNF-α GG genotype have higher risk to develop HCC. J. Med. Virol. 88:1587-1595, 2016. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction. TS is a useful model for this investigation because patients with TS show a high frequency of chromosome mosaicism. Here we investigated the possible association of polymorphisms of the MTHFR gene with TS risk, which has been previously investigated with controversial results. We also examined the effects of MTR, RFC1, and TYMS gene polymorphisms in TS for the first time. The risk was evaluated according to allelic and genotype (independent and combined) frequencies among 70 patients with TS and 144 age-matched healthy control subjects. Polymorphism genotyping was performed by PCR, PCR-RFLP, and PCR-ASA. The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. In conclusion, our present findings did not support a link between impaired folate metabolism and abnormal chromosome segregation leading to somatic nondisjunction in TS patients. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The aim of this study was to examine the prevalence and genetic variability of the capsid L1 gene of rare HPV genotypes that were found in the cervical lesions of women from North-East Brazil. A total number of 263 patients were included in this study. HPV detection was performed using PCR followed by direct sequencing of MY09/11, as well as type-specific PCR to detect the Alpha-9 species. Epitope prediction was performed to determine whether or not the genetic variants are inserted in B-cell and T-cell epitopes. The prevalence of rare HPV types in cervical lesions was found to be 9.47%. The rare HPV genotypes that were detected were HPV-53, 54, 56, 61, 62, 66, 70, and 81. The genetic variability in the L1 gene of rare HPV types involved thirty nucleotide changes, eight of which were detected for the first time in this study. Moreover, some of these variants are embedded in B-cell or T-cell epitope regions. The results of this research suggest that rare HPV types might be involved in cervical lesions and some of these variants can be found in B-cell and T-cell epitopes. Data on the prevalence and variability of rare HPV types will assist in clarifying the role of these viruses in carcinogenesis. [ABSTRACT FROM AUTHOR]