Polymorphism in cytolytic pathway genes in patients with pediatric inflammatory multisystemic syndrome temporally associated with SARS-CoV-2 / Polimorfismos em genes da via citolítica em pacientes com síndrome inflamatória multissistêmica pediátrica temporariamente associada ao SARS-CoV-2

Introduction: Pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) is a systemic hyperinflammatory disease that occurs in a small number of children after being infected with SARS-CoV-2. Macrophage activation syndrome, an aggressive condition characterized by the excessive inflammation and activation of well-differentiated macrophages, has been shown to occur in patients infected by SARS-CoV-2. Considering the clinical and pathophysiological similarities between these diseases, our main objective was to determine whether gene polymorphisms associated with macrophage activation syndrome were also present in patients with PIMS-TS. Methods: DNA from 10 pediatric patients with PIMS-TS (case group) and ten COVID-19 patients without PIMS-TS (control group) were genotyped by Real-time PCR analysis (TaqMan®) for single nucleotide polymorphisms (SNP) in four genes associated with macrophage activation syndrome: perforin 1 (PRF1), granzyme B (GZMB), syntaxin 11 (STX11), and syntaxin binding protein 2 (STXBP2). The SNP analysis was performed using the additive, dominant, and recessive models. Results: A significantly higher frequency of an SNP (C wild allele in rs6573910) in the GZMB gene was observed in both the additive and dominant models in the PIMS-TS group than controls. A borderline significant difference was also observed for the G allele in rs7764017 of the STX11 gene in the PIMS-TS group in the additive model. Conclusions: This study indicated the presence of two polymorphisms in genes associated with macrophage activation syndrome (GZMB and STX11) in patients who developed PIMS-TS. If the presence of these SNPs is validated in a larger number of PIMS-TS cases, they can be used as potential biomarkers for early identification of pediatric patients with a higher probability of developing PIMS-TS associated with SARS-CoV-2 infection.

Introdução: A síndrome multissistêmica inflamatória pediátrica temporariamente associada ao SARS-CoV-2 (SIMP-TS) é uma doença hiperinflamatória sistêmica que ocorre em um pequeno número de crianças após serem infectadas pelo SARS-CoV-2. A síndrome de ativação de macrófagos (SAM), uma condição agressiva caracterizada pela inflamação excessiva e ativação de macrófagos bem diferenciados, demonstrou ocorrer em pacientes infectados por SARS-CoV-2. Considerando as semelhanças clínicas e fisiopatológicas entre essas doenças, neste estudo o nosso principal objetivo foi determinar se polimorfismos gênicos associados à SAM também estavam presentes em pacientes com SIMP-TS. Métodos: DNA de dez pacientes pediátricos com SIMP (grupo caso) e dez pacientes COVID-19 sem SIMP (grupo controle) foram genotipados por análise de PCR em tempo real (tecnologia TaqMan®) para polimorfismos de nucleotídeo único (SNPs) em quatro genes selecionados associados com SAM: perforina 1 (PRF1), granzima B (GZMB), sintaxina 11 (STX11) e proteína de ligação de sintaxina 2 (STXBP2). A análise dos SNPs foi realizada utilizando o modelo aditivo, dominante e recessivo. Resultados: Uma frequência significativamente maior de um SNP (alelo selvagem C em rs6573910) no gene GZMB foi observada pelos modelos aditivo e dominante no grupo SIMP quando comparado aos controles. Além disso, uma significância limítrofe foi observada para o alelo G em rs7764017 do gene STX11 no grupo SIMP pelo modelo aditivo. Conclusões: Nosso estudo indicou a presença de dois polimorfismos em genes associados à SAM (GZMB e STX11) em pacientes que desenvolveram SIMP-TS. Uma vez validada a presença desses SNPs em um número maior de casos de SIMP-TS, eles podem ser usados como potenciais biomarcadores para a identificação precoce de pacientes pediátricos com maior probabilidade de desenvolver SIMP-TS associado à infecção por SARS-CoV-2.

No association between dopamine D2 receptor (DRD2) alleles and crack/cocaine dependence in Brazilians

INTRODUCTION: The causal mechanisms behind crack/cocaine use are still unknown, but genetic influences are suggested. OBJECTIVE: To investigate the relationship between the genetic polymorphism TaqI (rs1800497) in the dopamine D2 receptor (DRD2) gene and susceptibility to crack/cocaine dependence in a group of addicts to crack/cocaine and a non-addicted group. METHODS: The case group (n=515) was composed of crack/cocaine-dependent men and the control group (n=106) comprised men who were considered not dependent on crack/cocaine. The oral hygiene habits, decayed, missing, and filled teeth index, gingival index, and plaque index were evaluated. The reference single nucleotide polymorphism (rs1800497 C/T) of the DRD2 gene was genotyped by a real-time polymerase chain reaction technique. Student's t-tests for independent samples or the non-parametric Mann-Whitney test were used to compare groups regarding quantitative variables. RESULTS: The case group showed a mean time of 9.91±7.03 years of crack use, and 61.06±92.96 stones/week. The socio-demographic profile of the sample was White, single men, with basic education, blue-collar worker, smoker, and reporting alcohol use. There was a high frequency of gingival inflammation, plaque accumulation, and caries experience. For all genetic models tested, there was no significant difference in the genotypic frequency in rs1800497 of the DRD2 gene, between case and control groups (p>0.05). CONCLUSION: The genetic variant in the DRD2 did not increase the vulnerability to develop crack/cocaine dependence. The complex genetic nature of crack/cocaine dependence and a large variation of DRD2 allele frequencies, depending on the population group sampled, could be one explanation for the no association.

Influence of clinical factors, IL4 and IL6 genes polymorphisms in functional healing in late replantation.

To investigate the genetic association in a sample of replanted teeth, it is necessary to observe the extreme phenotypes, such as, teeth that underwent functional healing and those extracted due to severe external root resorption. Thus, this study aimed to investigate the association of age of the patients, root development, storage media, and polymorphisms in the interleukin 4 (IL4) and interleukin 6 (IL6) genes with teeth that presented extreme outcomes, as functional healing or extraction, in a group whose replantation techniques did not follow the International Association of Dental Traumatology (IADT) 2012 guidelines. Forty-three avulsed and replanted teeth that did not follow IADT 2012 guidelines and underwent functional healing or were extracted were included. Periapical radiographs employed for this study were taken soon after tooth replantation and after 1 year. For genotypic IL4 and IL6 genes analysis, DNA of oral mucosa cells was extracted. Real-time- PCR performed for genotyping polymorphisms in IL4 and IL6 genes. Clinical and genetic variables were analyzed by the Chi-square test and the "Z" test. P values < .05 were considered significant. The results showed that functional healing and extraction were associated with storage media and with the rs2243268 of IL- 4 gene polymorphisms. As conclusion, the C rs2243268 allele of IL4 gene may have a positive relationship with functional healing teeth that were replanted not following the 2012 IADT guidelines. Keeping the tooth dry is associated to a fast loss of avulsed and replanted teeth after 1-year follow-up.

Influence of clinical factors, IL4 and IL6 genes polymorphisms in functional healing in late replantation

Abstract To investigate the genetic association in a sample of replanted teeth, it is necessary to observe the extreme phenotypes, such as, teeth that underwent functional healing and those extracted due to severe external root resorption. Thus, this study aimed to investigate the association of age of the patients, root development, storage media, and polymorphisms in the interleukin 4 (IL4) and interleukin 6 (IL6) genes with teeth that presented extreme outcomes, as functional healing or extraction, in a group whose replantation techniques did not follow the International Association of Dental Traumatology (IADT) 2012 guidelines. Forty-three avulsed and replanted teeth that did not follow IADT 2012 guidelines and underwent functional healing or were extracted were included. Periapical radiographs employed for this study were taken soon after tooth replantation and after 1 year. For genotypic IL4 and IL6 genes analysis, DNA of oral mucosa cells was extracted. Real-time- PCR performed for genotyping polymorphisms in IL4 and IL6 genes. Clinical and genetic variables were analyzed by the Chi-square test and the "Z" test. P values < .05 were considered significant. The results showed that functional healing and extraction were associated with storage media and with the rs2243268 of IL- 4 gene polymorphisms. As conclusion, the C rs2243268 allele of IL4 gene may have a positive relationship with functional healing teeth that were replanted not following the 2012 IADT guidelines. Keeping the tooth dry is associated to a fast loss of avulsed and replanted teeth after 1-year follow-up.

Resumo Para investigar a influência genética em uma amostra de dentes reimplantados, é necessário observar os fenótipos extremos, como os dentes que sofreram cura funcional e os extraídos devido à reabsorção radicular externa severa. Assim, este estudo teve como objetivo investigar a associação da idade dos pacientes, desenvolvimento radicular dos dentes, assim como o meio de transporte até o reimplante e polimorfismos nos genes da interleucina 4 (IL4) e da interleucina 6 (IL6) com dentes que apresentaram cura funcional ou extração, em um grupo cujas técnicas de reimplante não seguiu a International Association of Dental Traumatology (IADT) 2012. Foram incluídos 43 dentes avulsionados e reimplantados que não seguiram as diretrizes do IADT, e tiveram cura funcional ou foram extraídos. As radiografias periapicais utilizadas para este estudo foram feitas logo após o reimplante dentário e após 1 ano. Para a análise genotípica dos genes IL4 e IL6, foi extraído DNA de células da mucosa oral. PCR em tempo real realizou a análise dos polimorfismos dos genes. As variáveis ​​clínicas e genéticas foram analisadas pelos testes Qui-quadrado e "Z". Valores de p <0,05 foram considerados significativos. Os resultados mostraram que a cura ou perda dos dentes está associada ao meio de armazenamento e polimorfismos no gene rs2243268 da IL-4. Como conclusão, o alelo C rs2243268 do gene IL4 pode ter uma relação positiva com a cura functional do dente reimplantado. Manter o dente seco está associado a uma perda rápida de dentes avulsionados e reimplantados que não seguiram o IADT 2012.

The role of polymorphism of the IL6 gene in tooth replantation.

The absence or presence of root resorption on the root surface of a replanted tooth indicates an immune-inflammatory reaction. Since interleukin-6 (IL-6) is considered an inflammatory marker in bone resorption, this study aimed to investigate the association between clinical variables and polymorphisms in IL6, with the outcome of replanted teeth at 1-year follow-up. Altogether, 127 avulsed teeth that were replanted and had their root canals treated were selected for this study. Periapical radiographs were taken after replantation and after 1 year. Real-time PCR was used to genotype IL6 polymorphisms. Chi-square and 'Z' tests were performed to verify the association between genetic variables and the prognosis of replanted teeth (P < 0.05). An association was observed between the rs2069843 polymorphism of IL6 and the outcome of replanted teeth (P < 0.05). The rs2069843 polymorphism of IL6 may influence the outcome of avulsed and replanted teeth in the first year post-trauma.

The role of IL-17A/IL-17RA and lung injuries in children with lethal non-pandemic acute viral pneumonia.

This study aimed to evaluate IL-17A (interleukin 17A) and IL-17RA (IL-17A receptor) in a pediatric population that died with non-pandemic acute viral pneumonia compared to the non-viral pneumonia group. Necropsy lung samples (n = 193) from children that died after severe acute infection pneumonia were selected and processed for viral antigen detection by immunohistochemistry. After this, they were separated into two groups: virus-positive (n = 68) and virus-negative lung samples (n = 125). Immunohistochemistry was performed to assess the presence of IL-17A and IL-17RA in the lung tissue. The virus-positive group showed stronger immunolabeling for IL-17A and IL-17RA (p = 0.020 and p < 0.001, respectively). The result of this study may suggest that IL-17A and IL-17RA plays an essential role in the maintenance of viral infection and lung injuries. These aspects may increase the severity of the inflammatory response leading to lethal lung injuries in these patients. Children with community-acquired non-pandemic pneumonia that requiring hospitalization could benefit from using IL-17RA/IL-17A monoclonal antibodies to block their injurious effects.

Anxiety and genetic polymorphisms in catechol-O-methyltransferase (COMT) and serotonin transportation gene (5HTT) are associated with benign migratory glossitis.

OBJECTIVE: The aim of this case-control study was to investigate whether benign migratory glossitis (BMG) is associated with catechol-O-methyltransferase (COMT) and serotonin transportation gene (5HTT) polymorphisms and anxiety. STUDY DESIGN: The study comprised 43 patients with BMG and 114 patients without a history of BMG. We used the Hamilton Anxiety (HAM-A) rating scale to assess each individual's anxiety. We collected DNA from buccal cells and analyzed polymorphisms of COMT and 5HTT. We conducted statistical evaluations by using SPSS software (SPSS Inc., Chicago, IL) and STATA (StataCorp, College Station, TX). Alpha value was set at 0.05. RESULTS: Overall anxiety level was significantly higher in the case group than in the control group (P < .001). In adjusted multiple logistic regression, the COMT markers were not associated with BMG. Individuals with the CC genotype, in rs3813034 of 5HTT, presented an odds ratio (OR) of 2.85 (95% confidence interval [CI] 1.03-7.82; P = .042). Individuals with the TT genotype, in the rs1042173 of 5HTT, presented an OR of 3.77 (95% CI 1.32-10.74; P = .013). For each incremental increase in the anxiety score, there was an 8% increase in the probability of BMG (ORa=1.08; 95% CI 1.03-1.14; P = .007). CONCLUSIONS: Anxiety increases the risk of BMG. Moreover, the occurrence of BMG was associated with polymorphisms in the 5HTT gene.

Clinical aspects and polymorphisms in the LTA, TNFA, LTB genes and association with dental implant loss.

BACKGROUND: This study shows the relationship between host factors and environmental factors in the influence of susceptibility to loss of dental implants. PURPOSE: The aim of this study was to investigate the association of clinical aspects and tag SNPs of the genes LTA, TNFA, and LTB with dental implant loss. MATERIALS AND METHODS: The subjects consisted of 244 patients, divided into two groups: control group (C)-163 individuals who did not lose any implants, being in function for at least 6 months; and study group (S)-81 individuals who had lost at least one implant. DNA was collected from saliva, and the genotypes were determined by real time PCR. Univariate and multivariate analysis were employed p < .05. RESULTS: After multivariate analysis, dental implant loss remained associated with the presence of teeth (p = .011), a larger amount of placed implants (p = .001), and allelle C of rs2009658 of the LTA gene (p = .006). For the other tag SNPs of these studied genes, there was no association between the groups C and S with dental implants loss. CONCLUSION: Presence of teeth, number of placed implants and allele C of rs2009658 of LTA gene were associated with implant loss.

The role of Phosphatidylinositol 3 kinase (PI3K) and Cycloxygenase-2 (COX2) in carcinogenesis of colorectal polyps / O papel de PI3K e COX2 na carcinogênese de pólipos colorretais

ABSTRACT Objectives: Determine immunohistochemical expression of Phosphatase and tensin homolog (PTEN), Phosphatidylinositol 3 kinase (PI3K), Cycloxygenase-2 (COX2) and one proliferation marker (Ki67) in colorectal polyps and correlate with clinical and pathological data in search of carcinogenic pathways. Methods: The reports of 297 polyps diagnosed through endoscopy were reviewed for parameters including age, gender, prior colorectal cancer, the presence of multiple polyps, and polyps' location, appearance and size. Was conducted a microscopic morphometric computerized analysis of immunohistochemical expression using, the selected antibodies and correlated with clinical and pathological variables. Results: The tissue immunohistochemical expression was higher in right colon polyps for the proliferation marker and Phosphatidylinositol 3 kinase (p ≤ 0.0001 and 0.057 respectively). Cycloxygenase-2 and Phosphatase and tensin homolog demonstrated higher tissue immunoexpression in pedunculated polyps (p = 0.009 and 0.002 respectively). Cycloxygenase-2 exhibited higher immunoexpression in larger polyps (p = 0.005). Phosphatidylinositol 3 kinase, Cycloxygenase-2, Phosphatase and tensin homolog and the proliferation marker exhibited higher immunoexpression in high-grade dysplastic polyps (p = 0.031, 0.013, 0.044 and <0.001 respectively). Phosphatase and tensin homolog labeling was higher in polyps with high-grade dysplasia and lower in some of serrated lesions (p = 0.044). Conclusions: The greater expression of the proliferation marker and Phosphatidylinositol 3 kinase in the right colon may be related to right-sided colorectal carcinogenesis. The proliferation marker, Cycloxygenase-2 and Phosphatidylinositol 3 kinase results can be associated with progression of polyps to colorectal cancer. The higher Phosphatase and tensin homolog expression suggests its attempt to control the cell cycle.

RESUMO Objetivos: Determinar a expressão imuno-histoquímica de Fosfatase homóloga a tensina (PTEN), Fosfatidilinositol-3-cinase (PI3K), Ciclooxigenase-2 (COX2) e um marcador de proliferação (Ki67) em pólipos colorretais e correlacionar com dados clínicos e patológicos buscando sua correspondência na carcinogênese. Métodos: Revisados 297 pólipos diagnosticados através de endoscopia quanto a idade, gênero, história de câncer colorretal, número, localização, aparência e tamanho dos pólipos. Realizadas as avaliações morfométricas computadorizadas das expressões imuno-histoquímicas dos marcadores selecionados, que foram correlacionadas com variáveis clínicas e patológicas. Resultados: A expressão do marcador de proliferação e da Fosfatidilinositol-3-cinase foi maior nos pólipos do cólon direito (p = <0,0001 e 0.057 respectivamente). Ciclooxigenase-2 e Fosfatase homóloga a tensina demonstraram maior imunoexpressão em pólipos pediculados (p = 0,009 e 0,002, respectivamente). Ciclooxigenase-2 expressou mais em pólipos maiores (p = 0,005). Fosfatidilinositol-3-cinase, Ciclooxigenase-2, Fosfatase homóloga a tensina e o marcador de proliferação expressaram mais em pólipos com displasia de alto grau (p = 0,031, 0,013, 0,044 e <0,001, respectivamente). Fosfatase homóloga a tensina marcou mais pólipos com displasia de alto grau que lesões serrilhadas (p = 0,044). Conclusões: A maior expressão do marcador de proliferação e Fosfatidilinositol-3-cinase à direita pode estar relacionada à carcinogênese do lado direito do cólon. Os resultados do marcador de proliferação, Ciclooxigenase-2 e Fosfatidilinositol-3-cinase podem ser associados à progressão dos pólipos para câncer. A expressão aumentada de Fosfatase homóloga a tensina sugere tentativa de controle do ciclo celular.

Types of External Root Resorption of Replanted Teeth: Analysis of the Clinical Aspects and of Interleukin-4 Gene Polymorphisms Involvement.

INTRODUCTION: The absence or presence of root resorption on the surface of a replanted tooth indicates an immune-inflammatory reaction. Recent research even suggests the participation of host predominant immunologic profile on types of resorptions detected on the root surface. Because interleukin 4 (IL-4) is an important anti-inflammatory cytokine, this study aimed to investigate the association of clinical variables and polymorphisms in IL4 with types of resorption of replanted teeth after 1 year of follow-up. METHODS: One hundred twenty-seven avulsed teeth that were replanted were selected. Periapical radiographs were taken after replantation and for 1 year to detect the types of root resorption. Real-time polymerase chain reaction was used to genotype IL4 polymorphisms. The χ2 and Z tests were performed to verify the association of clinical and genetic variables with the outcomes of replanted teeth (P < .05). RESULTS: An association was observed of extra-alveolar time, storage medium, and development of the root (P < .05), but not of IL4 polymorphisms, with the outcomes of replanted teeth (P > .05). CONCLUSIONS: Extraoral time, storage medium, and development of the root, but not IL4 polymorphisms, may influence the types of resorption of avulsed and replanted teeth in the first year after trauma.

Host and clinical aspects in patients with benign migratory glossitis.

OBJECTIVE: Investigate the association of clinical, cytological and genetic characteristics with benign migratory glossitis (BMG). STUDY DESIGN: Sample consisted of 175 patients, 44 with BMG and 131 control patients. Clinical examination and DMFT index were assessed. Cytological evaluation determined cell morphology and morphometry. Genetic evaluation was performed by analysing IL6 polymorphisms by real-time PCR. Univariate and multivariate analyses were performed (p<0.05). RESULTS: There was a higher level of anxiety, DMFT score and a prevalence of fissured tongue in BMG group. A high mean nuclear/cytoplasmic area ratio was observed in patients with BMG. There was predominance of Papanicolaou class II I BMG group. IL6 allele G rs2069843 polymorphism was associated with BMG in the dominant model. In multivariate analysis, DMFT and anxiety scale remained associated with BMG.

Comparative Analysis of Psychological, Hormonal, and Genetic Factors Between Burning Mouth Syndrome and Secondary Oral Burning.

OBJECTIVE: The objective of this study was to evaluate the association between psychological, hormonal, and genetic factors with the development of burning mouth syndrome (BMS) and secondary oral burning (SOB) in order to provide a better characterization and classification of these conditions. DESIGN: Cross sectional study. SETTING: Patients with complaints of mouth burning registered at the Oral Diagnostic Service of the Federal University of Rio Grande do Norte between 2000 and 2013. SUBJECTS: The sample consisted of 163 subjects divided into a group of patients with BMS (n = 64) and a group of subjects with SOB (n = 99). METHODS: The following variables were analyzed: passive and stimulated saliva flow, stress levels and phase, depression, anxiety, serum cortisol and dehydroepiandrosterone (DHEA) levels, and the presence of polymorphisms in the interleukin 6 (IL-6) gene. RESULTS: The results showed significant differences in the presence of xerostomia (p = 0.01), hyposalivation at rest (p < 0.001) and symptoms of depression (p = 0.033) between the two groups, which were more prevalent in the BMS group. DHEA levels were lower in the BMS group (p = 0.003) and were sensitive and specific for the diagnosis of this condition. Genetic analysis revealed no significant association between the polymorphisms analyzed and the development of BMS. CONCLUSION: These results suggest a possible role of depression, as well as of reduced DHEA levels, as associated factors for development of BMS.

Immunohistochemical expression of sulfhydryl oxidase (QSOX1) in pediatric medulloblastomas.

BACKGROUND: Medulloblastoma is a malignant, invasive embryonal tumor of the cerebellum and accounts for 20% of intracranial tumors in children. QSOX1, whose functions include formation of disulphide bridges, which are needed for correct protein folding and stability, formation of the extracellular matrix, regulation of the redox status and cell cycle control, appears to be involved in apoptosis in pathological states such as cancer. Thus, the aim of this study was to investigate the immunohistochemical expression of QSOX1 in medulloblastomas and nonneoplastic cerebellum. METHODS: Histology blocks of pediatric medulloblastomas were separated and two representative areas of the tumors and non-neoplastic cerebellum samples were used to construct tissue microarrays (TMAs) that were stained with an anti-QSOX1 antibody, and the slides were read using image analysis software. RESULTS: QSOX1 immunoexpression was observed in the non-neoplastic cerebellum samples and the medulloblastoma samples. There was no statistically significant relationship between QSOX1 immunopositivity in the medulloblastoma samples and the clinical and pathological variables. CONCLUSIONS: Although QSOX1 did not prove useful for stratifying patients into risk groups, tumor cells and the fibrillar extracellular matrix were positive for this marker, indicating that this enzyme may be involved in the pathogenesis of medulloblastoma. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1822040654139436.

Association analysis of clinical aspects and vitamin D receptor gene polymorphism with external apical root resorption in orthodontic patients.

INTRODUCTION: Vitamin D is responsible for the regulation of certain genes at the transcription level, via interaction with the vitamin D receptor, and influences host immune responses and aspects of bone development, growth, and homeostasis. Our aim was to investigate the association of TaqI vitamin D receptor gene polymorphism with external apical root resorption during orthodontic treatment. METHODS: Our subjects were 377 patients with Class II Division 1 malocclusion, divided into 3 groups: (1) 160 with external apical root resorption ≤1.43 mm, (2) 179 with external apical root resorption >1.43 mm), and (3) 38 untreated subjects. External apical root resorption of the maxillary incisors was evaluated on periapical radiographs taken before and after 6 months of treatment. After DNA collection and purification, vitamin D receptor TaqI polymorphism analysis was performed by polymerase chain reaction-restriction fragment length polymorphism. Univariate and multivariate analyses were performed to verify the association of clinical and genetic variables with external apical root resorption (P <0.05). RESULTS: There was a higher proportion of external apical root resorption in orthodontically treated patients compared with the untreated subjects. In patients orthodontically treated, age higher than 14 years old, initial size of the maxillary incisor root superior to 30 mm, and premolar extraction were associated with increased external apical root resorption. Genotypes containing the C allele were weakly associated with protection against external apical root resorption (CC + CT × TT [odds ratio, 0.29; 95% confidence interval, 0.07-1.23; P = 0.091]) when treated orthodontic patients were compared to untreated individuals. CONCLUSIONS: Clinical factors and vitamin D receptor TaqI polymorphism were associated with external apical root resorption in orthodontic patients.

Analysis of IL1 gene polymorphisms and transcript levels in periodontal and chronic kidney disease.

UNLABELLED: Chronic kidney disease (CKD) and periodontitis (PD) are complex inflammatory disturbances, influenced by genetic factors. Interleukin (IL)-1 genes code for inflammatory mediators involved in the physiopathogenesis of both diseases. Functional polymorphisms in IL1 genes modulate cytokine levels and have been associated with susceptibility to immune-inflammatory conditions. OBJECTIVES: The aim of this study was investigate the association of functional IL1 gene polymorphisms and transcript levels with susceptibility to CKD and PD. DESIGN: The sample consisted of 246 individuals, mean age 44.8 years, divided into: group 1 (64 patients without CKD and without PD), group 2 (58 without CKD and with PD), group 3 (52 with CKD and without PD) and group 4 (72 with CKD and with PD). DNA was obtained from cells of oral mucosa and polymorphisms IL1AC-889T, IL1BC-511T, IL1BC+3954T and IL1RN (intron 2) were analyzed by PCR-RFLP. Transcript levels from gingival tissues were analyzed by real-time PCR. RESULTS: IL1RN(*)1 allele was associated with almost 4-fold increased risk for CKD (OR 3.92 95% CI=1.6-9.4, p=0.002). IL1RN(*)2 allele was associated with 3-fold increased risk for PD in CKD patients (OR 3.08 95% CI=1.2-7.9, p=0.019). Allele T for polymorphism IL1B+3954 was associated with CKD in PD patients (OR 2.28 95% CI=1.1-4.7, p=0.019). Significantly increased levels of transcripts of IL1A, IL1B and IL1RN genes were found in PD patients. CONCLUSIONS: It was observed an evidence for association of IL1B and IL1RN alleles with susceptibility to CKD and PD. Higher levels of IL1 gene transcripts were found in PD patients.

Laminados cerâmicos anteriores: relato de caso clínico / Anterior porcelain veneers: Case report

As facetas de resina composta podem ser utilizadas adequadamente para modifcações de cor, forma, posição e textura dos dentes anteriores. No entanto, esse material é suscetível à alteração de cor e ao desgaste, restringindo, assim, o resultado estético ao longo do tempo. Para compensar tais limitações, foram, então, propostos os laminados cerâmicos. A evolução na indicação dessa técnica ocorreu, principalmente, com a melhoria das propriedades físicas e mecânicas das cerâmicas, associada ao desenvolvimento dos sistemas adesivos e dos cimentos resinosos, permitindo, assim, uma adequada união da cerâmica à estrutura dentária e, dessa maneira, aumentando a longevidade e o desempenho clínico dessas restaurações.

Direct composite veneers can be appropriately used for modifying color, shape, position and texture of anterior teeth. Therefore, this material is liable to color changes and teeth abrasion, limiting the esthetic result in the long term. The laminate porcelain veneers were proposed to compensate those limitations. Its evolution occurred with the improvement on the physical and mechanical properties of porcelain, associated to adhesive systems development, allowing an accurate bonding to porcelain as well as to dental structure, increasing, this way, the longevity and clinical performance of laminate veneers.

Diminuição da expressão imuno-histoquímica de moléculasde adesão em carcinomas escamosos de mucosa oral / Reduction of immunohistochemical expression of adhesion molecules in squamous carcinoma of oral mucosa

Objetivos: Comparar a expressão imuno-histoquímica da E-caderina e da Beta-catenina de lesões escamosaspré-neoplásicas e neoplásicas de mucosa oral de amostras emblocadas em parafina. Materiais e métodos:Foram selecionadas 15 amostras de mucosa oral de pacientes apresentando hiperplasia com ou sem displasialeve (grupo 1); 5 amostras apresentando displasia moderada, acentuada ou carcinoma in situ (grupo 2); e12 amostras apresentando carcinoma de células escamosas invasor (grupo 3). Essas amostras foram submetidasà técnica de imuno-histoquímica com anticorpos primários monoclonais anti-E-caderina e anti-Betacatenina.A leitura em microscopia óptica compreendeu a expressão tecidual desses marcadores no epitélioescamoso das amostras de mucosa oral – lesadas ou não. A expressão imuno-histoquímica dessas moléculasde adesão foi classificada, segundo a sua intensidade de marcação tecidual, em negativa, positiva fraca epositiva forte. Resultados: A expressão de E-caderina foi forte em 93,3% dos casos do grupo 1 (hiperplasia/displasia leve), e 100% dos casos demonstraram forte expressão para a Beta-catenina nesse mesmo grupo. Contudo, no grupo 3 (carcinoma de célula escamosa), somente 42% dos casos foram fortemente positivospara E-caderina e 25% deles para Beta-catenina. Conclusões: A E-caderina e a Beta-catenina diminuíram asua expressão segundo a progressão tumoral do carcinoma de mucosa oral, reforçando um dos mecanismosrelacionados com a sua carcinogênese.

Objectives: To compare the immunohistochemical expression of E-cadherin and Beta-catenin in squamous pre-malignant and malignant lesions of formalin fixed paraffin embedded buccal mucosa samples. Materials e methods: Selected 15 samples of buccal mucosa of patients with hyperplasia with or without mild dysplasia (group 1), 5 samples showing moderate dysplasia, severe or carcinoma in situ (group 2) and 12 samples presenting invasive squamous cell carcinoma (group 3). These samples were subjected to immunohistochemistry with anti-E-cadherin and anti-Beta-catenin monoclonal antibodies. The expression of these markers in tissue samples injured or not were analyzed in accordance of positivity that was observed in epithelium stratum. The immunohistochemical expression of these adhesion molecules was classified according to their intensity in negative, weak positive and strong positive. Results: The expression of E-cadherin was strong at 93.3% of patients in group 1, and 100% of the cases showed strong expression of Beta-catenin in the same group. However, in group 3, only 42% of cases were strongly positive for E-cadherin and 25% of them to Beta-catenin. Conclusions: The E-cadherin and Beta-catenin decreased their expression according to tumor progression, from hiperplasia/mild dysplasia lesion to buccal invasive carcinoma and this fact may be related of the carcinogenesis mechanisms.

Association between vitamin D receptor gene polymorphisms and susceptibility to chronic kidney disease and periodontitis.

BACKGROUND/AIMS: Chronic kidney disease (CKD) and periodontitis (PD) are serious public-health concerns. Vitamin D is a fat-soluble steroid hormone that interacts with its nuclear receptor (VDR) to regulate a variety of biological processes, such as bone metabolism, immune response modulation and transcription of several genes involved in CKD and PD disease mechanisms. The aim of this work was to investigate the association between polymorphisms in the VDR gene and end-stage renal disease (ESRD) and PD. METHODS: 222 subjects with and without ESRD (in hemodialysis) were divided into groups with and without PD. Polymorphisms TaqI and BsmI in the VDR gene were analyzed by PCR restriction fragment length polymorphism. The significance of differences in allele, genotype and haplotype frequencies between groups was assessed by the chi2 test (p value <0.05) and odds ratio (OR). RESULTS: Allele G was associated with protection against ESRD: groups without versus with ESRD (GG) x (GA+AA): OR = 2.5, 95% CI = 1.4-4.6, p = 0.00; (G x A): OR = 1.5, 95% CI = 1.0-2.3, p = 0.02; (TG + CG) x (TA + CA): OR = 1.5, 95% CI = 1.0-2.3, p = 0.02. No association was observed between the study polymorphisms and susceptibility to or protection against PD. CONCLUSION: Allele G of the VDR BsmI polymorphism was associated with protection against ESRD.

Fratura bilateral de mandíbula atrófica / Bilateral fracture in atrophic mandible

O aumento da população de idosos no Brasil trouxe um maior número de pacientes nessa faixa etária para o atendimento em diversas áreas da Odontologia. Os pacientes idosos estão expostos a vários tipos de agentes agressores, como quedas e acidentes que geram fraturas maxilofaciais, necessitando então do atendimento especializado do cirurgião bucomaxilofacial. Os idosos apresentam uma condição diferenciada, com alterações sistêmicas e utilização de vários fármacos, que precisam ser levados em conta no planejamento terapêutico de cada caso. O tratamento dos traumatismos faciais deve objetivar a rápida recuperação do paciente com a mínima morbidade. Os autores apresentam um caso de fratura bilateral de mandíbula em paciente geriátrico edêntulo, com atrofia severa, tratado com osteossíntese com placa e parafusos de titânio. A recuperação do paciente foi satisfatória, sem complicações pós-operatórias em 18 meses de controle

The increase of the elderly population in Brazil has brought a higher number of patients of this age level for dental treatment in several areas of dentistry. Elderly patients are exposed to many kinds of aggressor agents, such as falling down and accidents that cause maxillofacial fractures, which require the specialized assistance of a maxillofacial surgeon. The elderly present a differentiated condition involving systemic changes and use of several drugs that must be taken into consideration when planning the therapeutics of each case. The treatment of facial trauma must aim fast recovery along with minimal morbidity. The authors present a case of mandible bilateral fracture in edentulous elderly patient with severe atrophy, treated with titanium plate and screws osteosynthesis. The healing period was satisfactory, without postoperative complications in 18 months follow up.

Avaliação da infiltração marginal entre uma resina do tipo Flow e um cimento de ionômero de vidro modificado por resina / Evaluation of marginal leakage between a flowable composite resin and resin-modified glass ionomer cements

O objetivo do presente estudo foi avaliar, in vitro, a infiltração marginalentre uma resina do tipo Flow (Fill Magic Flow®) e um cimento de ionômerode vidro modificado por resina (Vitremer®). Selecionaram-se para este estudo40 pré-molares humanos extraídos. Os dentes foram randomizadamenteseparados em dois grupos. Cavidades classe V foram preparadas commargem estendida apicalmente. Todos os dentes foram submetidos àciclagem térmica com 250 ciclos e, em seguida, à fuscina básica 0,5%, paraa análise do grau de infiltração ao longo de todas as paredes do preparo. Apesquisa mostrou que o cimento de ionômero de vidro modificado porresina apresentou os piores resultados (p < 0,05)

The aim of the present study was to evaluate, in vitro, the leakage between aflowable composite resin (Fill Magic Flow®) and resin-modified glass ionomer cements (Vitremer®). Forty extracted human premolars were selected forthis study. The teeth were randomly assigned into two groups. Class V cavities were prepared with margin extended apically. All teeth were subjected to thermocycling with 250 cycles. Afterwards, the teeth were submitted to a basic fuccina 0,5% to be analyzed to the infiltration degree throughout the walls of the preparation. The results showed that resin-modified glass ionomer cements present the worst results (p < 0,05)