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Polymorphisms in matrix metalloproteinases (MMPs) genes have been associated with several pathologies, including dental implant loss. MMP-3 is crucial to the connective tissue remodeling process. The objective of this study was to investigate the possible relationship between -1612 MMP-3 polymorphism and the early implant failure. A sample of 240 non-smokers was divided: test group 120 patients with one or more early failed implants and control group 120 patients with one or more healthy implants. Genomic DNA from oral mucosa was analyzed by PCR-RFLP. No association of early implant loss with genotypes and alleles of the -1612 polymorphism in MMP-3 were found by the Chi-squared test. Only the presence of the -1612 polymorphism of MMP-3 is not a genetic risk factor for early loss of implants.

The detection of BCR-ABL1 mRNA transcripts is essential to molecular chronic myeloid leukemia (CML) diagnosis. In most cases, the RT-qPCR technique is performed as the gold standard diagnosis tool for clinical cases. However, this method requires expensive reagents and equipment, such as a real-time thermal cycler, probes and master mix. Consequently, the development and validation of simple and lowcost methods are essential for a rapid CML diagnosis in less specialized and equipped centers. In this study, we develop and demonstrate an accessible, rapid, and low-cost method using RT-LAMP for BCR-ABL1 detection in both cell lines and CML clinical samples, using colorimetric and uorescent assays. Differently to the Q-LAMP assay described in 2019 by Stella and collaborators, the samples here were analyzed by RT-qPCR and the results were compared to the results obtained by uorescent and colorimetric RT-LAMP. The obtained data indicates that the proposed method here described is a cheaper, robust and speci c approach for CML diagnosis with outstanding performance.

Background Dental implants consist in the treatment of choice to replace tooth loss. The knowledge that implant loss tends to cluster in subsets of individuals may indicate that host response is influenced by genetic factors. Matrix metalloproteinases (MMPs) are enzymes that contribute to degradation and removal of collagen from extracellular matrix. Purpose This case‐control study aimed to investigate the haplotypic combination of MMP polymorphism (rs1144393, rs1799750, rs3025058, and rs11225395) and implant loss. Materials and Methods Two hundred nonsmokers subjects were matched by gender, age, implant number and position and divided in control group, 100 patients with one or more healthy implants, and test group, and 100 patients with one or more implant failures. Genomic DNA was extracted from saliva and genotypes were obtained by PCR‐RFLP. Results A significant association of rs1799750 (MMP‐1) and rs11225395 (MMP‐8) polymorphism on early implant loss was demonstrated (P ≤ 0.001). Global haplotype analysis indicated a significant difference between both groups (P < 0.0001). Haplotype T‐A‐GG‐5A‐C had a statistically significant risk effect, while haplotype C‐A‐G‐6A‐C andT‐G‐2G‐5A‐C had a protective effect in implant loss. Conclusions The results of this study showed that MMPs haplotype are a risk factor to early implant loss.

Background Posterior tibial tendon (PTT) is particularly vulnerable and its insufficiency is recognized as the main cause of adult acquired flat foot. Some patients have a predisposition without a clinically recognized cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated whether genetic variants in matrix metalloproteinases (MMPs) are associated with PTT dysfunction. Methods One hundred women who presented PTT dysfunction, with histopathological examination of the tendon and magnetic resonance imaging (MRI) confirming tendinopathy, as well as 100 asymptomatic women who presented intact PPT as assessed by MRI and constituting the control group, were evaluated for MMP‐13 g.‐77 A > G (rs2252070) polymorphism, individually and in haplotypes, as well as in combination with MMP‐1 g.‐519 A > G (rs1144393), MMP‐1 g.‐1607 G > GG (rs1799750) and MMP‐8 g.‐799 C > T (rs11225395) polymorphisms with PTT dysfunction. Genomic DNA was extracted from the saliva and genotypes were obtained by polymerase chain reaction‐restriction fragment length polymorphism. Statistical analysis of the results included a Mann–Whitney U‐test, Fisher's exact test, multiple logistic regression, chi‐squared and SNPstats software (http://bioinfo. http://iconcologia.net/snpstats/start.htm). p < 0.05 was considered statistically significant. Results The A allele frequency (MMP‐13 g.‐77 A > G (rs2252070) polymorphism) was significantly higher in the case group (76% and 61%, respectively; p = 0.010, odds ratio = 2.02; 95% confidence interval = 1.32–3.12). The genotype distribution was also significantly different between groups (p = 0.001, odds ratio = 2.82; 95% confidence interval = 1.58–5.02). Global haplotype analysis indicated a significant difference between both groups. Conclusions In conclusion, these findings indicate that MMP‐13 g.‐77 A > G (rs2252070) polymorphism individually, as well as its haplotypes MMP‐1 g.‐519 A > G (rs1144393), MMP‐1 g.‐1607 G > GG (rs1799750) and MMP‐8 g.‐799 C > T (rs11225395), may contribute to PTT dysfunction.

Background Pancreatic adenocarcinoma (PA) is a very aggressive cancer and has one of the poorest prognoses. Usually, the diagnosis is late and resistant to conventional treatment. Environmental and genetic factors contribute to the etiology, such as tobacco and alcohol consumption, chronic pancreatitis, diabetes and obesity. Somatic mutation in pancreatic cancer cells are known and SNP profile by GWAS could access novel genetic risk factors for this disease in different population context. Here we describe a SNP panel for Brazilian pancreatic cancer, together with clinical and epidemiological data. Methods 78 pancreatic adenocarcinoma and 256 non-pancreatic cancer subjects had 25 SNPs genotyped by real-time PCR. Unconditional logistic regression methods were used to assess the main effects on PA risk, using allelic, co-dominant and dominant inheritance models. Results 9 SNPs were nominally associated with pancreatic adenocarcinoma risk, with 5 of the minor alleles conferring protective effect while 4 related as risk factor. In epidemiological and clinical data, tobacco smoking, diabetes and pancreatitis history were significantly related to pancreatic adenocarcinoma risk. Polygenic risk scores computed using the SNPs in the study showed strong associations with PA risk. Conclusion We could assess for the first time some SNPs related with PA in Brazilian populations, a result that could be used for genetic screening in risk population such as familial pancreatic cancer, smokers, alcohol users and diabetes patients.

The detection of BCR-ABL1 mRNA transcripts is essential to molecular chronic myeloid leukemia (CML) diagnosis. In most cases, the RT-qPCR technique is performed as the gold standard diagnosis tool for clinical cases. However, this method requires expensive reagents and equipment, such as a real-time thermal cycler, probes and master mix. Consequently, the development and validation of simple and low-cost methods are essential for a rapid CML diagnosis in less specialized and equipped centers. In this study, we develop and demonstrate an accessible, rapid, and low-cost method using RT-LAMP for BCR-ABL1 detection in both cell lines and CML clinical samples, using colorimetric and fluorescent assays. Differently to the Q-LAMP assay described in 2019 by Stella and collaborators, the samples here were analyzed by RT-qPCR and the results were compared to the results obtained by fluorescent and colorimetric RT-LAMP. The obtained data indicates that the proposed method here described is a cheaper, robust and specific approach for CML diagnosis with outstanding performance.

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