It was not possible to detect BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma: A diagnostic accuracy study.

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.

BRAF p.V600E Mutational Status Does Not Correlate with Biological Behavior in Conventional Ameloblastomas: A Disease-Free Survival Analysis.

BACKGROUND: Dysregulation of the MAPK pathway appears to exert a pivotal role in the pathogenesis of ameloblastomas, since BRAF p.V600E has been reported in over 65% of the tumors. Therefore, the purpose of this study was to investigate whether the BRAF p.V600E is related to biological behavior and disease-free survival in patients with conventional ameloblastomas. METHODS: This is a retrospective cohort study based on the STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) recommendations. The study population consisted of individuals treated for conventional ameloblastomas. Clinical, imaging, histomorphological, immunohistochemical (Ki67 and CD138/syndecan-1), and molecular BRAF p.V600E mutation analyses were performed. Bivariate statistical analysis was performed through chi-square and Fisher's exact tests. Kaplan-Meier analysis with log-rank test and Cox proportional hazards regression were used to identify predictors of disease-free survival, with a significance level of 5%. RESULTS: Forty-one individuals were included, with a male-to-female ratio of 1.15:1. BRAF p.V600E mutation was identified in 75.6% of the tumors. No association between the BRAF mutational status and other clinical, imaging, histomorphological, and immunohistochemical variables was observed. Only the initial treatment modality was significantly associated with a better prognosis in univariate (p = 0.008) and multivariate (p = 0.030) analyses, with a hazard ratio of 9.60 (95%IC = 1.24-73.89), favoring radical treatment. CONCLUSION: BRAF p.V600E mutation emerges as a prevalent molecular aberration in ameloblastomas. Nevertheless, it does not seem to significantly affect the tumor proliferative activity, CD138/syndecan-1-mediated cell adhesion, or disease-free survival outcomes.

Genetic polymorphism of interleukins 6 and 17 correlated with apical periodontitis: A Cross-sectional study.

Interleukins 6 and 17 act in bone resorption in the presence of infections of endodontic origin for host defense. Genetic polymorphisms may be associated with increased bone loss, represented by areas of large periapical lesions. This study aimed to verify the frequency of interleukin 6 and 17 gene polymorphism in patients with asymptomatic apical periodontitis or chronic apical abscess and to verify the existence of correlations between periapical lesion area with age, gender, and presence of the polymorphism, in the studied population, in the state of Pernambuco. A population consisting of thirty diagnosed individuals was included. The area of the lesions was measured in mm². Genomic DNA was extracted and genotyping was performed by Polymerase Chain Reaction Restriction Fragment Length Polymorphism for interleukin 6 (rs 1800795) and interleukin 17 (rs 2275913). Fisher's exact, chi-square, and odds ratio tests were used. A logistic regression analysis was also performed using sex, age, and the presence of polymorphism as covariates, in addition to linear regression to test the relationship between age and lesion area. All tests used a significance level of 0.05% (p ≤0.05%). There was no statistical significance in the occurrence of large areas of periapical lesions correlated with age, sex, and diagnosis, nor in the distribution of alleles in the polymorphism of interleukins 6 and 17 in the studied groups. The frequency of homozygous and heterozygous polymorphism was high. The polymorphism of these interleukins is not correlated with the increase in the areas of asymptomatic periapical inflammatory lesions.

Genetic polymorphism of interleukins 6 and 17 correlated with apical periodontitis: A Cross-sectional study

Abstract Interleukins 6 and 17 act in bone resorption in the presence of infections of endodontic origin for host defense. Genetic polymorphisms may be associated with increased bone loss, represented by areas of large periapical lesions. This study aimed to verify the frequency of interleukin 6 and 17 gene polymorphism in patients with asymptomatic apical periodontitis or chronic apical abscess and to verify the existence of correlations between periapical lesion area with age, gender, and presence of the polymorphism, in the studied population, in the state of Pernambuco. A population consisting of thirty diagnosed individuals was included. The area of the lesions was measured in mm². Genomic DNA was extracted and genotyping was performed by Polymerase Chain Reaction Restriction Fragment Length Polymorphism for interleukin 6 (rs 1800795) and interleukin 17 (rs 2275913). Fisher's exact, chi-square, and odds ratio tests were used. A logistic regression analysis was also performed using sex, age, and the presence of polymorphism as covariates, in addition to linear regression to test the relationship between age and lesion area. All tests used a significance level of 0.05% (p ≤0.05%). There was no statistical significance in the occurrence of large areas of periapical lesions correlated with age, sex, and diagnosis, nor in the distribution of alleles in the polymorphism of interleukins 6 and 17 in the studied groups. The frequency of homozygous and heterozygous polymorphism was high. The polymorphism of these interleukins is not correlated with the increase in the areas of asymptomatic periapical inflammatory lesions.

Resumo As interleucinas 6 e 17 atuam na reabsorção óssea na presença de infecções de oriegem endodôntica para defesa do hospedeiro. Polimorfismos genéticos podem estar associados ao aumento da perda óssea, representada por áreas de lesões periapicais grandes. O objetivo deste estudo foi verificar a frequência do polimorfismo dos genes interleucina 6 e 17 em pacientes com periodontite apical assintomática ou abscesso apical crônico e verificar a existência de correlações entre área de lesão periapical com idade, sexo e presença do polimorfismo, na população estudada, no estado de Pernambuco. Foi incluída uma população constituída por trinta indivíduos diagnosticados. A áreas da lesões foram medidas em mm². O DNA genômico foi extraído e a genotipagem realizada por Polimorfismo de Comprimento de Fragmento de Restrição de Reação em Cadeia da Polimerase para interleucina 6 (rs 1800795) e interleucina 17 (rs 2275913). Os testes exato de Fisher, qui-quadrado e odds ratio foram utilizados. Uma análise de regressão logística também foi realizada usando sexo, idade e presença de polimorfismo como covariável, além de regressão linear para testar a relação da idade e área da lesão. Todos os testes utilizaram um nível de significância de 0,05% (p ≤0.05%). Não houve significância estatística na ocorrência das áreas grandes de lesões periapicais correlacionadas com idade, sexo e diagnóstico nem nas distribuições de alelos no polimorfismo das interleucinas 6 e 17 nos grupos estudados. A frequência de polimorfismo homozigoto e heterozigoto foi alta. O polimorfismo dessas interleucinas não está correlacionado ao aumento das áreas das lesões inflamatórias periapicais assintomáticas.

Association of Tumor Necrosis Factor-α (-G308A) Polymorphism with risk of Upper Gastrointestinal Bleeding from Schistosomiasis in Pernambuco.

BACKGROUND: We evaluated the association between polymorphisms in the tumor necrosis factor alpha (TNF-α) (-G308A) gene and upper gastrointestinal bleeding (UGIB) in schistosomiasis. METHODS: This was a transverse study involving 294 Brazilian patients infected with Schistosoma mansoni. RESULTS: The homozygous A/A genotype in TNF-α (-G308A) showed a risk association (prevalence ratio = 1.90, p = 0.008) with UGIB. There was no statistically significant difference in serum TNF-α levels between the clinical groups. CONCLUSIONS: The polymorphic TNF-α (-G308A) can be a risk factor for UGIB, in addition to being a potentially predictive factor for the severity of UGIB in schistosomiasis.

Increased expression of matrix metalloproteinases 2 and 9 as poor prognosis factor for Hodgkin's lymphoma patients

Abstract Objective: The aim of our study was to evaluate the expression of MMP-2 and MMP-9 as a prognostic factor in patients diagnosed with Hodgkin Lymphoma (HL). Methods: In the present study, 45 paraffin biopsies from patients up to 19 years old diagnosed with HL were used in two referral hospitals in the state of Pernambuco, Brazil. Risk groups were classified into favorable and unfavorable, according to Ann Arbor. The expression of matrix metalloproteinases 2 and 9 and their inhibitors was performed by immunohistochemistry (IHC). Data were analyzed using the GraphPad Prism 5 program. Results: MMP-2 intensity pattern was stronger (> 10% of the total field) in patients with stage III/ IV and B symptoms. MMP-2 showed an association with the risk group (p = 0.0388). That is, the stronger the MMP-2 marking, the greater the unfavorable risk. However, for MMP-9 there was no difference in the stronger intensity pattern in relation to stages I/II and III/IV, only in the presence of B symptoms. MMP-9 showed an association with B Symptoms (p = 0.0411). Therefore, patients with B symptoms have higher MMP-9 expression. Conclusion: Our results suggest that MMP-2 expression is associated with HL progression. While MMP-9 expression is related to the clinical worsening of these patients. However, further studies are needed to evaluate the exact role of these proteins in hematologic malignancies.

Genetic polymorphisms of TNF-α, IL-6, and IL-10 in female elderly patients with chronic temporomandibular disorder pain.

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.

Increased expression of matrix metalloproteinases 2 and 9 as poor prognosis factor for Hodgkin's lymphoma patients.

OBJECTIVE: The aim of our study was to evaluate the expression of MMP-2 and MMP-9 as a prognostic factor in patients diagnosed with Hodgkin Lymphoma (HL). METHODS: In the present study, 45 paraffin biopsies from patients up to 19 years old diagnosed with HL were used in two referral hospitals in the state of Pernambuco, Brazil. Risk groups were classified into favorable and unfavorable, according to Ann Arbor. The expression of matrix metalloproteinases 2 and 9 and their inhibitors was performed by immunohistochemistry (IHC). Data were analyzed using the GraphPad Prism 5 program. RESULTS: MMP-2 intensity pattern was stronger (>10% of the total field) in patients with stage III/IV and B symptoms. MMP-2 showed an association with the risk group (p = 0.0388). That is, the stronger the MMP-2 marking, the greater the unfavorable risk. However, for MMP-9 there was no difference in the stronger intensity pattern in relation to stages I/II and III/IV, only in the presence of B symptoms. MMP-9 showed an association with B Symptoms (p = 0.0411). Therefore, patients with B symptoms have higher MMP-9 expression. CONCLUSION: Our results suggest that MMP-2 expression is associated with HL progression. While MMP-9 expression is related to the clinical worsening of these patients. However, further studies are needed to evaluate the exact role of these proteins in hematologic malignancies.

Association of Tumor Necrosis Factor-α (-G308A) Polymorphism with risk of Upper Gastrointestinal Bleeding from Schistosomiasis in Pernambuco

ABSTRACT Background: We evaluated the association between polymorphisms in the tumor necrosis factor alpha (TNF-α) (-G308A) gene and upper gastrointestinal bleeding (UGIB) in schistosomiasis. Methods: This was a transverse study involving 294 Brazilian patients infected with Schistosoma mansoni. Results: The homozygous A/A genotype in TNF-α (-G308A) showed a risk association (prevalence ratio = 1.90, p = 0.008) with UGIB. There was no statistically significant difference in serum TNF-α levels between the clinical groups. Conclusions: The polymorphic TNF-α (-G308A) can be a risk factor for UGIB, in addition to being a potentially predictive factor for the severity of UGIB in schistosomiasis.

Is oral microbiota associated with overweight and obesity in children and adolescents? A systematic review.

This article aims to verify the relationship between the composition and diversity of oral microbiota with overweight and obese children and adolescents. This systematic review was registered in PROSPERO, followed PRISMA 2020, and included an electronic search until March 2022, in PubMed/MEDLINE, Web of Science, Scopus, and The Cochrane Library databases. Studies were eligible if they compared the oral microbiota according to nutrition status among children and adolescents. Independent peers using JBI Critical Appraisal Checklists assessed the quality of studies. Eleven studies were eligible to be included in this review, with a total of 1,695 children and adolescents, 224 were obese, 190 were overweight, 1,154 were eutrophics and 127 were underweight. The most frequent phyla in overweight and obese children and adolescents, in comparison to their counterparts were Firmicutes, Bacteroidetes, Proteobacteria, Actinobacteria and Fusobacteria. It was identified that nine of the eleven articles selected showed an association between oral microbiota and overweight and obesity in children and adolescents. We observed that there is an important association between oral bacterial composition diversity and overweight and obesity. This finding indicates the relevance of the evaluation and surveillance in oral health to control cases of overweight and obesity in children and adolescents.

TNF-α levels and presence of SNP-308G/A of TNF-α gene in temporomandibular disorder patients.

INTRODUCTION: Temporomandibular disorder (TMD) refers to a group of conditions that compromise the harmonious movement and function of the temporomandibular joint, masticatory muscles, and associated structures. The etiopathogenesis of TMD is multifactorial but not well-understood, with the role of genetic factors still being unclear. OBJECTIVE: This review aims to summarize the results of studies that evaluated TNF-α levels and the -308G/A TNF-α polymorphism in TMD patients. This study emphasizes the importance of a more selective treatment involving TNF-α inhibitors that can potentially reduce inflammation and pain, and improve quality of life. METHODS: The MEDLINE/PubMed database, Cochrane Library, and Web of Science database were searched for case-control studies published until September 2020 that compared levels of TNF-α or presence of its -308G/A polymorphism in TMD patients and healthy individuals. RESULTS: Six case-control studies were identified with a total of 398 TMD patients, aged between 12 and 78 years. The control group consisted of 149 subjects, aged between 18 and 47 years. The occurrence of TMD was predominant in females. Majority of studies found high TNF-α levels in TMD patients, compared to the control group. One of these studies found a positive correlation between the GA genotype and the development of TMD. CONCLUSION: Majority of the TMD patients showed elevated TNF-α levels, and a possible explanation for this could be the presence of the -308G/A polymorphism.

Polymorphisms of the serotonin receptors genes in patients with bruxism: a systematic review.

This study aimed to investigate if SNP rs6313, SNP rs2770304, SNP rs4941573, and SNP rs1923884 of the 5-HT2A receptor gene and SNP rs6295 of the 5-HT1A receptor gene are associated with bruxism etiology. METHODOLOGY: This systematic review was registered in PROSPERO (CRD42018094561). A search was conducted for articles published in or before May 2021. To qualify for eligibility in this review, the studies had to be case-controls, cohort or cross-sectional. The inclusion criteria were the articles with a group of patients with bruxism and a control group in which the presence of these SNPs was evaluated. The exclusion criteria were the investigations of other polymorphisms, the studies that did not consider a control group for comparison, case reports, and reviews. The NOS and JBI were used to evaluate the methodological quality of studies. RESULTS: We conducted this study with databases, such as Web of Science, Scopus, Embase, PubMed/MEDLINE, and ProQuest. We considered four studies eligible. A total of 672 participants were included,187 with sleep bruxism, 105 with awake bruxism, 89 with sleep and awake bruxism, and 291 controls. One study found a strong association between the SNPs rs6313, rs2770304 and rs4941573 of the 5-HT2A receptor gene and sleep bruxism. In one study, we considered the C allele of the SNP rs2770304 a risk factor for sleep bruxism. We found no significant results of other SNPs in sleep bruxers compared to controls. We found no positive association concerning the SNPs and groups of awake bruxism and sleep and awake bruxism. CONCLUSION: The different results regarding the SNPs in sleep bruxers could be explained by the genetic distinction between Chilean, Mexican, Japanese, and Polish population. More clinical trials and prospective studies must be conducted with larger sample size and in different ethnicities to confirm the results of this review.

TNF-α levels and presence of SNP-308G/A of TNF-α gene in temporomandibular disorder patients

ABSTRACT Introduction: Temporomandibular disorder (TMD) refers to a group of conditions that compromise the harmonious movement and function of the temporomandibular joint, masticatory muscles, and associated structures. The etiopathogenesis of TMD is multifactorial but not well-understood, with the role of genetic factors still being unclear. Objective: This review aims to summarize the results of studies that evaluated TNF-α levels and the -308G/A TNF-α polymorphism in TMD patients. This study emphasizes the importance of a more selective treatment involving TNF-α inhibitors that can potentially reduce inflammation and pain, and improve quality of life. Methods: The MEDLINE/PubMed database, Cochrane Library, and Web of Science database were searched for case-control studies published until September 2020 that compared levels of TNF-α or presence of its -308G/A polymorphism in TMD patients and healthy individuals. Results: Six case-control studies were identified with a total of 398 TMD patients, aged between 12 and 78 years. The control group consisted of 149 subjects, aged between 18 and 47 years. The occurrence of TMD was predominant in females. Majority of studies found high TNF-α levels in TMD patients, compared to the control group. One of these studies found a positive correlation between the GA genotype and the development of TMD. Conclusion: Majority of the TMD patients showed elevated TNF-α levels, and a possible explanation for this could be the presence of the -308G/A polymorphism.

RESUMO Introdução: A disfunção temporomandibular (DTM) é definida como um grupo de alterações que comprometem a articulação temporomandibular, os músculos mastigatórios e as estruturas associadas. A etiopatogenia da DTM é multifatorial, e o papel dos fatores genéticos permanece obscuro. Objetivo: A presente revisão teve como objetivo descrever as contribuições de estudos que avaliaram os níveis de TNF-α e o polimorfismo -308 G/A em pacientes com DTM. Esse estudo enfatizou a importância de um tratamento mais completo envolvendo os inibidores do TNF-α que podem potencialmente reduzir a inflamação e a dor, contribuindo para melhorar a qualidade de vida do paciente. Métodos: As pesquisas foram realizadas nas bases de dados MEDLINE/PubMed, Cochrane Library e Web of Science, em busca de estudos de caso-controle publicados até setembro de 2020 que avaliassem os níveis de TNF-α e seu polimorfismo -308 G/A nos pacientes com DTM e em controles saudáveis. Resultados: Seis estudos de caso-controle foram identificados, com um total de 398 pacientes com DTM, e a idade variou de 12 a 78 anos. O grupo controle consistiu de 149 indivíduos e sua idade variou, aproximadamente, de 18 a 47 anos. O sexo feminino foi predominante. A maioria das pesquisas encontrou níveis elevados de TNF-α nos pacientes, em comparação com os controles. Um estudo encontrou uma associação positiva entre o genótipo GA e o desenvolvimento de DTM. Conclusão: A maioria dos pacientes com DTM demonstrou predisposição a uma maior produção de TNF-α, e isso poderia ser explicado pela presença do polimorfismo -308 G/A.

Polymorphisms on rs9939609 FTO and rs17782313 MC4R genes in children and adolescent obesity: A systematic review.

The aim of this review was to assess whether the presence of rs9939609 and rs17782313 polymorphisms increase the risk for obesity among children and adolescents. This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist and it was registered in PROSPERO. The search was performed in the PubMed/Medline, The Cochrane Library, and Web of Science databases. The risk of bias of the studies was accessed using the Newcastle-Ottawa scale and JBI Critical Appraisal Checklist for Analytical. The search of the databases retrieved 859 references. Twelve studies were eligible to be included in this systematic review. Five studies founded a positive association between overweight and obesity in children and adolescents with the presence of the rs17783213 and four studies with rs9939609. Three studies did not find an association between overweight and obesity in children and adolescents with the presence of rs17782313 or rs9939609. One found a protective effect for obesity in individuals with risk A allele referring to rs9939609, one found a synergistic effect in relation to the presence of polymorphisms rs17782313 and rs9939609 for obese phenotype, and one observed that the presence together of the rs9939609, rs17782313, and rs12970134 MC4R were significant for the presence of obesity in children and adolescents. The results suggest that depending on the population evaluated and ethnicity, the polymorphisms rs17782313 and rs9939609 could be associated with overweight and obesity in children and adolescents.

Polymorphisms of the serotonin receptors genes in patients with bruxism: a systematic review

Abstract This study aimed to investigate if SNP rs6313, SNP rs2770304, SNP rs4941573, and SNP rs1923884 of the 5-HT2A receptor gene and SNP rs6295 of the 5-HT1A receptor gene are associated with bruxism etiology. Methodology This systematic review was registered in PROSPERO (CRD42018094561). A search was conducted for articles published in or before May 2021. To qualify for eligibility in this review, the studies had to be case-controls, cohort or cross-sectional. The inclusion criteria were the articles with a group of patients with bruxism and a control group in which the presence of these SNPs was evaluated. The exclusion criteria were the investigations of other polymorphisms, the studies that did not consider a control group for comparison, case reports, and reviews. The NOS and JBI were used to evaluate the methodological quality of studies. Results We conducted this study with databases, such as Web of Science, Scopus, Embase, PubMed/MEDLINE, and ProQuest. We considered four studies eligible. A total of 672 participants were included,187 with sleep bruxism, 105 with awake bruxism, 89 with sleep and awake bruxism, and 291 controls. One study found a strong association between the SNPs rs6313, rs2770304 and rs4941573 of the 5-HT2A receptor gene and sleep bruxism. In one study, we considered the C allele of the SNP rs2770304 a risk factor for sleep bruxism. We found no significant results of other SNPs in sleep bruxers compared to controls. We found no positive association concerning the SNPs and groups of awake bruxism and sleep and awake bruxism. Conclusion The different results regarding the SNPs in sleep bruxers could be explained by the genetic distinction between Chilean, Mexican, Japanese, and Polish population. More clinical trials and prospective studies must be conducted with larger sample size and in different ethnicities to confirm the results of this review.

Association of the polymorphism Exon 1 (A/O) region of the mannose-binding lectin gene and periportal fibrosis regression in schistosomiasis after specific treatment

Abstract INTRODUCTION: We evaluated the association between genetic polymorphisms in exon 1 (A/O alleles) and promoter regions at positions -550 (H/L variant, rs11003125) and -221 (X/Y variant, rs7096206) MBL2 and periportal fibrosis regression. METHODS: This was a retrospective cohort study involving 114 Brazilians infected with Schistosoma mansoni, who were subjected to follow-up for three years after specific treatment for schistosomiasis to estimate the probability of periportal fibrosis regression. RESULTS: A risk association was observed between polymorphism at the exon 1 MBL2 and periportal fibrosis regression. CONCLUSIONS: This study suggests that the polymorphism of exon 1 MBL2 may potentially be used to predict periportal fibrosis regression in this population.

Association of the polymorphism Exon 1 (A/O) region of the mannose-binding lectin gene and periportal fibrosis regression in schistosomiasis after specific treatment.

INTRODUCTION: We evaluated the association between genetic polymorphisms in exon 1 (A/O alleles) and promoter regions at positions -550 (H/L variant, rs11003125) and -221 (X/Y variant, rs7096206) MBL2 and periportal fibrosis regression. METHODS: This was a retrospective cohort study involving 114 Brazilians infected with Schistosoma mansoni, who were subjected to follow-up for three years after specific treatment for schistosomiasis to estimate the probability of periportal fibrosis regression. RESULTS: A risk association was observed between polymorphism at the exon 1 MBL2 and periportal fibrosis regression. CONCLUSIONS: This study suggests that the polymorphism of exon 1 MBL2 may potentially be used to predict periportal fibrosis regression in this population.

Evaluation of IL-6 levels and +3954 polymorphism of IL-1ß in burning mouth syndrome: A systematic review and meta-analysis.

This study evaluated IL-6 salivary levels as well as the +3954 polymorphism of IL-1ß 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-1ß 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-1ß 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.