Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.

Cystic fibrosis (CF) is a genetic disease caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are over 2,000 different pathogenic and non-pathogenic variants described in association with a broad clinical heterogeneity. In this work, we identified a novel variant S511Lfs*2 in CFTR gene that has not been reported in patients with CF. The patient was a female genotyped with c.1000C>T (legacy name: R334W) variant (pathogenic, CF-causing) and the novel variant (S511Lfs*2). We verified the amino acid sequence, the protein structure, and predicted the pathogenicity employing computational analysis. Our findings showed that S511Lfs*2 is a frameshift variant and suggest that it is associated with severe CF phenotype, as it leads to a lack of CFTR protein synthesis, and consequently the loss of its functional activity.

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.

Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil. METHODS: We reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence. RESULTS: Of 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g. CONCLUSION: The present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds.

Association between cytokine gene polymorphisms and outcome of hepatitis B virus infection in southern Brazil.

A number of studies have demonstrated associations between cytokine gene polymorphisms and outcome of hepatitis B virus (HBV) infection. However, no general consensus has been reached, possibly due to differences between ethnic groups. In this study, 345 individuals living in southern Brazil, including 196 chronic HBV carriers and 149 subjects who had spontaneously recovered from acute infection, were enrolled to evaluate the influence of cytokine gene polymorphisms on the outcome of HBV infection. Most participants were of European descent. Genotyping of IL2-330 G/T, IL4-589C/T, IL6-174 G/C, IL10-592C/A, IL10-1082 A/G, IL17A-197 G/A, IL17A-692 T/C, TNF-α-238 G/A, and TNF-α-308 G/A single nucleotide polymorphisms was performed by using the minisequencing (single base extension) method. By multivariable analysis, a statistically significant association was found between genotypic profile AA + GA in TNF-α-308 and chronic HBV infection (OR, 1.82; 95%CI, 1.01-3.27; P = 0.046). In southern Brazil, the carriers of the -308A allele in the TNF-α gene promoter have a moderately higher risk of becoming chronic carriers in case of HBV infection. In addition, patients with chronic active hepatitis B (n = 60) exhibited a decreased frequency (3.3%) of the TNF-238A allele when compared to that (14.8%) found among asymptomatic HBV carriers (n = 136), suggesting that this could be a protective factor against liver injury (OR, 0.17; 95%CI, 0.04-0.076; P = 0.023). J. Med. Virol. 88:1759-1766, 2016. © 2016 Wiley Periodicals, Inc.

Association between human papillomavirus (HPV) DNA and micronuclei in normal cervical cytology.

The aim of the present study was to investigate the association between HPV-DNA and micronucleus (MN) frequency in women with normal cervical cytology. A total of 158 normal cervical smears were analyzed cytologically. The HPV genome was amplified using the GP5+/bioGP6+ consensus primers. HPV-DNA of high-risk types 16, 18, 31, 33, 39, 45 and 59 were also investigated. Of the 158 samples, 20 (12.7%) and 47 (29.7%) were positive for HPV-DNA and MN, respectively. Evidence for MN was found in 11 out of 20 (55%) HPV-DNA positive samples and in 36 out of 138 (26.1%) HPV-DNA negative ones. MN presence was significantly higher in HPV-DNA positive samples (p = 0.016). On the other hand, the absence of MN observed in a considerable number of HPV-DNA negative samples (102) may be of great value in predicting the absence of HPV. The mean age of HPV-DNA positive women (34.2 ± 12.6) was significantly lower than the mean age of HPV-DNA negative women (43.9 ± 13.7) (p = 0.003). Infection by one or multiple HPV types was found in 11 out of 20 (55.0%) and 9 out of 20 (45.0%) samples, respectively. The evaluation of MN using cervical smears collected for cytology tests could, thus, be used as additional information to monitor a population's exposure to HPV.

Association between cervical lesion grade and micronucleus frequency in the Papanicolaou test.

The aim of this study was to evaluate the association between the frequency of micronuclei (MN) and the cellular changes detected in the conventional Papanicolaou test. One hundred and seventy-four Papanicolaou test smears with cellular changes were examined. MN screening was done in cytopathological smears by counting 1,000 cervical cells in a light microscope. MN frequencies were significantly higher in the group with cellular changes compared to the control group (p < 0.001). The mean MN frequencies were 0.95 ± 1.12 (mean ± SD) in the control group (n = 223), 2.98 ± 1.20 in individuals with atypical squamous cells of undetermined significance (ASC-US) (n = 50), 4.04 ± 1.45 in cervical intraepithelial neoplasia (CIN) I (n = 52), 5.97 ± 1.83 in CIN II (n = 30), 7.29 ± 1.55 in CIN III (n = 17) and 8.64 ± 1.55 in invasive cancer (n = 25). These findings suggest that MN monitoring should be included as an additional criterion for the early detection of cytogenetic damage in routine examinations. This monitoring should be done in the same smear as used for cytopathological examination. More specific and systematic studies are necessary to confirm this proposal.

Mutation rate estimates for 13 STR loci in a large population from Rio Grande do Sul, Southern Brazil.

Short tandem repeat (STR) polymorphisms have been extensively used in forensic genetics analysis. Knowledge about the locus-specific mutation rates of STRs improves forensic probability calculations and interpretations of diversity data. To incorporate single-locus diversity information into autosomal STR mutation rate estimations, 13 STR loci were studied during 2007-2009 in 10,959 paternity investigation cases from Rio Grande do Sul, the southernmost state of Brazil, covering an overall number of 284,934 allelic transfers. A total of 355 mutations were identified; 348 repeats were gains or losses of one step, three were gains or losses of two steps, and four were gains or losses of not stepwise mutation. The mutation rates ranged from 4.6 × 10(-5) to 2.3 × 10(-3), and the overall mutation rate estimate was 1.2 × 10(-3). The average of the paternal mutation rate (1.8 × 10(-3)) was five times higher than the maternal rate (0.36 × 10(-3)). The observed mutational features for STRs have important consequences for forensic applications, including the definition of criteria for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis.

Response to treatment in Brazilian patients with chronic hepatitis C is associated with a single-nucleotide polymorphism near the interleukin-28B gene.

A single-nucleotide polymorphism (SNP) upstream of interleukin (IL)28B was recently identified as an important predictor of the outcome of chronic hepatitis C patients treated with pegylated interferon plus ribavirin (PEG-IFN/RBV). The aim of this study was to investigate the association between the IL28B gene polymorphism (rs12979860) and virological response in chronic hepatitis C patients. Brazilian patients (n = 263) who were infected with hepatitis C virus (HCV) genotype 1 and were receiving PEG-IFN/RBV were genotyped. Early virological response (EVR) (12 weeks), end-of-treatment response (EOTR) (48 weeks), sustained virological response (SVR) (72 weeks) and relapse were evaluated using conventional and quantitative polymerase chain reaction (PCR) assays. The frequency of the C allele in the population was 39%. Overall, 43% of patients experienced SVR. The IL28B CC genotype was significantly associated with higher treatment response rates and a lower relapse rate compared to the other genotypes [84% vs. 58% EVR, 92% vs. 63% EOTR, 76% vs. 38% SVR and 17% vs. 40% relapse rate in CC vs. other genotypes (CT and TT), respectively]. Thus, the IL28B genotype appears to be a strong predictor of SVR following PEG-IFN/RBV therapy in treatment-naïve Brazilian patients infected with HCV genotype 1. This study, together with similar research examining other SNPs, should help to define adequate protocols for the treatment of patients infected with HCV genotype 1, especially those with a poor prognosis.

Population genetic analyses of the AmpFlSTR® NGM™ in Brazil.

Population data of 15 short tandem repeat loci of the AmpFlSTR® next generation multiplex (NGM)™ were obtained from a sample of 835 individuals. The loci are the ten short tandem repeats (STRs) in the SGM Plus® Kit plus the EDNAP- and ENSFI-recommended STRs D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Allele frequency and other forensically relevant statistics data were generated for the NGM loci into five current country macroregions of Brazil (North, Northeast, Central West, Southeast, and South). All the analyzed loci meet Hardy-Weinberg equilibrium expectations and no linkage disequilibrium in all pairs of loci. The observed and expected heterozygosity, power of discrimination, polymorphic information content, and the other population-genetic indices were calculated. The overall power of discrimination was greater than 0.99999999999999999996 and the combined power of exclusion was greater than 0.9999998 in all Brazilian populations. Comparative analysis between populations from different Brazilian macroregions as well as between Brazil and Caucasian, African Americans, and Hispanic US populations are presented.

The high prevalence of Torque teno virus DNA in blood donors and haemodialysis patients in southern Brazil.

This study investigates the frequency of Torque teno virus (TTV) infection in 150 blood donors and 77 patients requiring haemodialysis in southern Brazil. Plasma samples were screened for TTV DNA using polymerase chain reaction (PCR). The prevalences of TTV among blood donors and patients requiring haemodialysis were 73.3% and 68.8%, respectively. The presence of TTV was correlated with age in the blood donors (p = 0.024). In haemodialysis patients, no association was found between TTV infection and the demographic parameters (age, sex and education), the duration of haemodialysis or a history of blood transfusion. This study is the first to evaluate the prevalence of TTV infection in Brazilian patients requiring haemodialysis.

Agaricus bisporus mushroom as partial fat replacer improves the sensory quality maintaining the instrumental characteristics of beef burger.

The effect of Agaricus bisporus (AB) mushroom as a fat replacer in beef burgers was evaluated. Four treatments were compared: control (0% AB, 20% fat) and 3 treatments with partial fat replacement: AB 5% (5% AB, 15% fat); AB 10% (10% AB, 10% fat); AB 15% (AB 15%, 5% fat). Mushroom addition increased moisture content and yield and decreased cooking loss and diameter reduction of the burgers. Formulations with the highest AB concentrations were lighter and redder than the control. AB incorporation affected texture, resulting in less hard and less chewy products. In general, lipid oxidation increased during the storage time, however the lowest values were observed in AB 15%, i.e. the lowest fat content and the presence of AB increased the oxidative stability. AB 10% and AB 15% had good overall liking and were sensorially characterized as juicy, tender and flavorsome burgers. The partial replacement of animal fat by AB is a promising strategy for developing a low-fat burger.

No Evidence of SARS-CoV-2 Infection in Neotropical Primates Sampled During COVID-19 Pandemic in Minas Gerais and Rio Grande do Sul, Brazil.

In 2019, a new coronavirus disease (COVID-19) was detected in China. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was capable to infect domestic and captive mammals like cats, tigers and minks. Due to genetic similarities, concern about the infection of non-human primates (NHPs) and the establishment of a sylvatic cycle has grown in the Americas. In this study, neotropical primates (NP) were sampled in different areas from Brazil to investigate whether they were infected by SARS-CoV-2. A total of 89 samples from 51 NP of four species were examined. No positive samples were detected via RT-qPCR, regardless of the NHP species, tissue or habitat tested. This work provides the first report on the lack of evidence of the circulation of SARS-CoV-2 in NP. The expansion of wild animals sampling is necessary to understand their role in the epidemiology of SARS-CoV-2 and other potentially zoonotic pathogens in natural environments shared by humans.

Is There Association Between Stress and Bruxism? A Systematic Review and Meta-Analysis.

This systematic review and meta-analysis aimed to investigate a possible association between stress and bruxism in humans. This study was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines under the code CRD42020188862, and the searches were performed on the following databases: PubMed, Scopus, Web of Science, Cochrane, LILACS, OpenGrey, and Google Scholar. This systematic review evaluated observational studies in adult humans with and without stress to verify the association between bruxism and the presence of stress. The risk of bias was evaluated through the Joanna Briggs Institute Critical Appraisal Tools for Analytical Cross-Sectional Studies. In quantitative analysis, the Odds Ratio (OR) and their 95% confidence interval (CI) were calculated through a fixed-effect model. Furthermore, a summary of the overall strength of evidence was presented using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE). A total of 1,458 studies were identified, and six were included in this systematic review. Two studies included were classified with a low risk of bias, and the others were classified with a moderate risk of bias. In three articles, a meta-analysis was performed and showed an association between these two factors (OR 2.07 [1.51, 2.83], p < 0.00001, I 2 = 45%). Besides that, a low certainty of the evidence was detected among this association. Stressed individuals show a higher chance of presenting bruxism when compared to healthy individuals. Despite the low heterogeneity found in the quantitative analysis among the articles reporting an association between stress and bruxism, further studies with similar methods are necessary to understand this relationship better.

Role of cervicitis in the Raman-based optical diagnosis of cervical intraepithelial neoplasia.

The Raman-based optical diagnosis of normal cervix, inflammative cervix (cervicitis), and cervical intraepithelial neoplasia was investigated on samples of 63 patients. The main alterations were found in the 857 cm(-1) (CCH deformation aromatic); 925 cm(-1) (C-C stretching); approximately 1247 cm(-1) (CN stretch, NH bending of Amide III); 1370 cm(-1) (CH2 bending); and 1525 cm(-1) (C=CC=N stretching) vibrational bands in accordance with previously reported in the literature comparing normal and malignant cervical tissue. The statistical analysis (principal components analysis, clustering, and logistic regression models) applied to the spectral data indicated that the full discrimination among normal and neoplastic tissues of cervix by Raman optical biopsy is seriously affected by the presence of inflammatory infiltrates, which increases the false-positive rate. This fact is specially relevant once cervicitis is a very common state (noncancerous) of the cervix of sexually active woman. The results suggest that, for the correct Raman-based diagnosis of normal cervix from cervical intraepithelial neoplasia, it is necessary to use an auxiliary way to discriminate the contribution from the inflammatory infiltrates.

Construyo e validado de jogo educativo sobre sexualidade para adolescentes

Introdujo: a educagáo em saúde de adolescentes com foco na sexualidade é favorecida pelo emprego de tecnologias cuidativo- educacionais. Objetivo: construir e validar uma tecnologia educacional, do tipo jogo de tabuleiro, para mediar a discussáo de tópicos referentes a sexualidade com a populado adolescente. Materiais e métodos: estudo metodológico delineado em tres etapas, a saber: 1°) delimitado do conteúdo a ser abordado, 2°) elaborado do protótipo do jogo, 3°) validado do conteúdo e aparencia por juízes especialistas. Resultados e discussao: "Match" é um jogo de tabuleiro, com perguntas temáticas relacionados a sexualidade que direcionam o jogador do início ao fim do trajeto. Deu-se enfase a incorporado de elementos da gamificagáo, tais como, sorte, estratégia, competido e cooperado. O processo de validado obteve éxito em todas as categorias avaliadas, o jogo foi considerado relevante e adequado as atividades de educado em saúde. Conclusdes: O jogo elaborado encontra-se validado e disponível a comunidade científica e profissional, e deverá ter os seus efeitos mensurados nas próximas etapas da pesquisa. Além disso, uma versáo digital da ferramenta deve ser construída para elevar o seu alcance.

Introduction: health education for adolescents with a focus on sexuality is favored using care- educational technologies. Objective: to build and validate an educational technology, like a board game, to mediate the discussion of topics related to sexuality with the adolescent population. Materials and methods: methodological study outlined in three stages, namely: 1st) delimitation of the content to be addressed, 2nd) creation of the game prototype, 3rd) validation of the content and appearance by expert judges. Results and discussion: "Match" is a board game, with thematic questions related to sexuality that direct the player from the beginning to the end of the path. Emphasis was placed on the incorporation of gamification elements, such as luck, strategy, competition, and cooperation. The validation process was successful in all evaluated categories, the game was considered relevant and suitable for health education activities. Conclusions: The developed game is validated and available to the scientific and professional community, and its effects should be measured in the next stages of the research. In addition, a digital version of the tool must be built to increase its reach.

Introducción: la educación en salud de los adolescentes con enfoque en la sexualidad se ve favorecida por el uso de tecnologías cuidado - educativas. Objetivo: construir y validar una tecnología educativa, a modo de juego de mesa, para mediar en la discusión de temas relacionados a la sexualidad con la población adolescente. Materiales y métodos: estudio metodológico planteado en tres etapas, a saber: 1a) delimitación del contenido a abordar, 2a) creación del prototipo del juego, 3a) validación del contenido y apariencia por jueces expertos. Resultados y discusión: "Match" es un juego de mesa, con preguntas temáticas relacionadas con la sexualidad que dirigen al jugador desde el principio hasta el final del viaje. Se hizo hincapié en la incorporación de elementos de gamificación, como la suerte, la estrategia, la competencia y la cooperación. El proceso de validación fue exitoso en todas las categorías evaluadas, el juego fue considerado relevante y adecuado para actividades de educación en salud. Conclusiones: el juego desarrollado está validado y disponible para la comunidad científica y profesional, y sus efectos deben medirse en las próximas etapas de la investigación. Además, se debe construir una versión digital de la herramienta para aumentar su alcance.

Construção e validação de jogo educativo sobre sexualidade para adolescentes / Construction and validation of an educational game about sexuality for adolescents / Construcción y validación de un juego educativo sobre sexualidad para adolescentes

Introdução: a educação em saúde de adolescentes com foco na sexualidade é favorecida pelo emprego de tecnologias cuidativo-educacionais. Objetivo: construir e validar uma tecnologia educacional, do tipo jogo de tabuleiro, para mediar a discussão de tópicos referentes à sexualidade com a população adolescente. Materiais e métodos: estudo metodológico delineado em três etapas, a saber: 1º) delimitação do conteúdo a ser abordado, 2º) elaboração do protótipo do jogo, 3º) validação do conteúdo e aparência por juízes especialistas. Resultados e discussão: "Match" é um jogo de tabuleiro, com perguntas temáticas relacionados à sexualidade que direcionam o jogador do início ao fim do trajeto. Deu-se ênfase à incorporação de elementos da gamificação, tais como, sorte, estratégia, competição e cooperação. O processo de validação obteve êxito em todas as categorias avaliadas, o jogo foi considerado relevante e adequado às atividades de educação em saúde. Conclusões: O jogo elaborado encontra-se validado e disponível à comunidade científica e profissional, e deverá ter os seus efeitos mensurados nas próximas etapas da pesquisa. Além disso, uma versão digital da ferramenta deve ser construída para elevar o seu alcance.

Introduction: health education for adolescents with a focus on sexuality is favored using care-educational technologies. Objective: to build and validate an educational technology, like a board game, to mediate the discussion of topics related to sexuality with the adolescent population. Materials and methods: methodological study outlined in three stages, namely: 1st) delimitation of the content to be addressed, 2nd) creation of the game prototype, 3rd) validation of the content and appearance by expert judges. Results and discussion: "Match" is a board game, with thematic questions related to sexuality that direct the player from the beginning to the end of the path. Emphasis was placed on the incorporation of gamification elements, such as luck, strategy, competition, and cooperation. The validation process was successful in all evaluated categories, the game was considered relevant and suitable for health education activities. Conclusions: The developed game is validated and available to the scientific and professional community, and its effects should be measured in the next stages of the research. In addition, a digital version of the tool must be built to increase its reach.

Introducción: la educación en salud de los adolescentes con enfoque en la sexualidad se ve favorecida por el uso de tecnologías cuidado - educativas. Objetivo: construir y validar una tecnología educativa, a modo de juego de mesa, para mediar en la discusión de temas relacionados a la sexualidad con la población adolescente. Materiales y métodos: estudio metodológico planteado en tres etapas, a saber: 1ª) delimitación del contenido a abordar, 2ª) creación del prototipo del juego, 3ª) validación del contenido y apariencia por jueces expertos. Resultados y discusión: "Match" es un juego de mesa, con preguntas temáticas relacionadas con la sexualidad que dirigen al jugador desde el principio hasta el final del viaje. Se hizo hincapié en la incorporación de elementos de gamificación, como la suerte, la estrategia, la competencia y la cooperación. El proceso de validación fue exitoso en todas las categorías evaluadas, el juego fue considerado relevante y adecuado para actividades de educación en salud. Conclusiones: el juego desarrollado está validado y disponible para la comunidad científica y profesional, y sus efectos deben medirse en las próximas etapas de la investigación. Además, se debe construir una versión digital de la herramienta para aumentar su alcance.

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

BACKGROUND: Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results. In order to assist the diagnosis, molecular methodologies have been employed. This work aimed to perform genotyping assays to detect mutations in the CYP21A2 gene and compare the findings with other population studies. METHODS: The SNaPshot assay was developed to simultaneously detect 12 frequent point mutations in the CYP21A2 gene (p.Arg409Cys, p.Gln319Ter, p.Arg357Trp, p.Leu308PhefsTer6, p.Val237Glu, IVS2-13A/C > G, p.Ile173Asn, p.Pro31Leu, p.Pro454Ser, p.Val282Leu, p.Gly111ValfsTer21 and p.His63Leu). The direct sequencing and multiplex ligation-dependent probe amplification assays were used to confirm point mutations present in the developed method. The latter was also used to search large deletions and gene conversion, complementing the investigation. A total of 166 cases were studied. RESULTS: The SNaPshot assay was successfully developed to detect the 12 mutations. The results of mutation analysis indicated 84 pathogenic alleles in 48 cases, with p.Val282Leu (27.1%) and IVS2-13A/C > G (20.8%) being the most frequently found mutations. Between the findings of this study and those of other South American studies, there were significant differences in frequency for p.Pro31Leu and p.Val282Leu (p < 0.001). A new variant T in IVS2-13A/C > G was identified in two patients via the SNaPshot assay. CONCLUSION: The molecular strategy developed for CYP21A2 gene mutation screening allowed us to detect the principle mutations described around the world. Furthermore, the first Southern Brazilian mutation frequencies concerning the CYP21A2 gene were obtained.

Identification of local angiogenic and inflammatory markers in the menstrual blood of women with endometriosis.

The aim of this study was to evaluate the presence of myeloperoxidase (MPO), N-acetyl-ß-D-glucosaminidase (NAG), tumor necrosis factor alpha (TNF-α) and vascular endothelial growth factor (VEGF) in peripheral and menstrual blood in women with (n=10) and without (n=7) endometriosis. NAG and MPO activities were evaluated by enzymatic methods, whereas TNF-α and VEGF by immunoassay. No significant differences were found for these markers, neither in menstrual nor in peripheral blood between groups. Menstrual blood NAG (P=0.039) and MPO (P=0.0117) activities in the endometriosis group were significantly higher than in peripheral blood. NAG and MPO presented positive linear correlation in peripheral (P=0.07; r=0.641) and menstrual blood (P=0.01; r=0.603). These findings point to the existence of an increased local inflammatory activity in women with endometriosis.

Allele frequencies of 15 STRs in a representative sample of the Brazilian population.

Allele frequencies for 15 short tandem repeat (STR) loci were obtained from a sample of 12,030 individuals undergoing paternity testing. This sample includes individuals from all States in Brazil, combined according to the current country division into five regions (North, Northeast, Central West, Southeast, and South). The most polymorphic loci were D2S1338 and D18S51. All the analysed loci meet Hardy-Weinberg equilibrium expectations. Combined power of discrimination and combined power of exclusion for the 15 tested STR loci were 0.999999999999990 and 0.9999992, respectively. Comparative analysis between populations from different Brazilian macroregions as well as between Brazil and other relevant populations are presented.

15 STR loci frequencies in the population from Santa Catarina, Southern Brazil.

Allele frequencies for 15 short tandem repeats (STR) loci were determined with a sample of 3000 unrelated individuals from the population of Santa Catarina, Southern Brazil. The loci are most commonly used in forensic and paternity testing, being analyzed by the Powerplex 16 (Promega) commercial kit. The data shows that most polymorphic loci were Penta E and FGA. The distributions of the genotypes in the evaluated loci are in Hardy-Weinberg equilibrium. Comparative analyses between our population data and other Brazilian populations are presented. The calculated forensic parameters showed that the loci are useful for the solution of forensic problems in Brazilian Southern region.