RESUMEN El síndrome de Wells es una afección dérmica que presenta un gran polimorfismo clínico. Es una patología autolimitada, recurrente y su origen es incierto. Reportamos el caso de una paciente de 29 años, procedente del área Central de Paraguay, comerciante, sin patología de base que consultó por edema de manos y piel. El tratamiento indicado fue corticoide vía oral y desparasitación con buena evolución y sin recidivas.

ABSTRACT Wells syndrome is a dermal condition with a high clinical polymorphism. It is a self-limited, recurrent pathology and its origin is uncertain. We report the case of a 29-year-old female patient from the central area of Paraguay, a shopkeeper, with no underlying pathology, who consulted for hand and skin edema. The indicated treatment was oral corticosteroid and deworming with good evolution and no recurrences.

Resumo: Introdução: O componente genético foi estabelecido como um fator de risco significativo para a ruptura do ligamento cruzado anterior (RLCA). As pesquisas atuais têm se concentrado em identificar os genes candidatos que podem influenciar e predispor um indivíduo a essa lesão. Objetivo: Foi realizada uma análise bibliométrica para rastrear os resultados das pesquisas e identificar tendências globais e lacunas no conhecimento sobre a relação entre o componente genético e a RLCA. Metodologia: Os dados foram extraídos das bases de dados Pubmed e Scopus e analisados no pacote Bibliometrix do software R. Um total de 63 estudos publicados desde 2007 foram identificados. Resultados: A maioria das publicações recuperadas foram artigos de pesquisa (85,71%). Os autores com o maior número dessas publicações estão na Polônia e na África do Sul. A análise por meio do mapa de coocorrência revela que há uma linha principal de pesquisa baseada no estudo de polimorfismos genéticos, especialmente nos genes das famílias de colágeno (COL1A1, COL5A1, COL12A1, com maior frequência). Um total de 54 genes candidatos foram identificados nos estudos. Conclusão: Esperamos que este estudo possa ajudar a encontrar pontos-chave e lacunas de pesquisa, fornecendo uma análise abrangente e informações estruturadas sobre este tema.

Abstract: Introduction: Genetic component has been established as a significant risk factor for anterior cruciate ligament rupture (ACLR). Current research has focused on knowing the candidate genes that can influence and predispose a subject to this injury. Objective: A bibliometric analysis was carried out to trace the results of the research and identify global trends and gaps in knowledge about the relationship between the genetic component and ACLR. Methodology: Data were extracted from the Pubmed and Scopus databases and analyzed in the Bibliometrix package of the R software. A total of 63 studies published since 2007 were identified. Results: Most of the publications recovered were research articles (85.71%). The authors with the highest number of those are in Poland and South Africa. The analysis through the co-occurrence map reveals that there is a mainline of research based on the study of genetic polymorphisms, especially in the genes of the collagen families (COL1A1, COL5A1, COL12A1, in greater frequency). A total of 54 candidate genes were identified within the studies. Conclusion: We hope that this study can help to find key points and research gaps by providing a comprehensive analysis and structured information on this topic.

Resumen: Introducción: El componente genético se ha establecido como un factor de riesgo considerable para la ruptura del ligamento cruzado anterior (RLCA). La investigación actual se ha centrado en conocer los genes candidatos que pueden influir y predisponer a un sujeto a padecer esta lesión. Objetivo: Se llevó a cabo un análisis bibliométrico para rastrear los resultados de la indagación e identificar las tendencias globales, así como las brechas en el conocimiento sobre la relación entre el componente genético y la RLCA. Metodología: Los datos fueron extraídos de las bases Pubmed y Scopus, igual que analizados en el paquete Bibliometrix del software R. Se identificó un total de 63 estudios publicados a partir del 2007. Resultados: La mayoría de las publicaciones identificadas fueron artículos de investigación (85.71 %). Los autores con mayor número de aquellas se encuentran en Polonia y Sudáfrica. El análisis a través del mapa de coocurrencias reveló que hay una línea principal de investigación basada en el estudio de polimorfismos genéticos, especialmente en los genes de las familias del colágeno (COL1A1, COL5A1, COL12A1, en mayor frecuencia). Un total de 54 genes candidatos fueron identificados en los estudios. Conclusión: Esperamos que este estudio pueda contribuir a encontrar puntos claves y vacíos de investigación, al proporcionar análisis integrales e información estructurada sobre este tema.

ABSTRACT Lessonia nigrescens and L. trabeculata are economically important kelp species in northern Chile. Despite their considerable value, the genetic diversity of these kelp has received limited attention in the Atacama region. This study aimed to analyze genetic diversity, establish genetic relationships, and identify diagnostic DNA markers in the Atacama region's L. nigrescens and L. trabeculata. Both species' Inter-sequence simple repeat (ISSR) band patterns showed high reproducibility and reliability. Among 17 ISSRs, 161 polymorphic bands were identified in Lessonia spp. Parameters, such as percentage polymorphism, number of alleles per locus, effective number of alleles, and Shannon information index, indicated that L. nigrescens had slightly higher genetic diversity than L. trabeculata. The Unweighted pair group method with arithmetic average (UPGMA) cluster analysis revealed two main clusters: one containing L. nigrescens and the other containing L. trabeculata. Additionally, four species diagnostic ISSR markers were identified for L. nigrescens and L. trabeculata. The ISSR markers proved valuable in detecting genetic diversity in L. nigrescens and L. trabeculata. This information is particularly important for marine management strategies and ensuring successful conservation.

Resumen Antecedentes: El incremento seminal de especies reactivas de oxígeno (ERO) se ha vinculado con la oxidación del ADN y anormalidades en la morfología espermática. La enzima 8-oxoguanina ADN glucosilasa 1 (OGG1) repara la oxidación del ADN. Sin embargo, la presencia del polimorfismo en la OGG1 que involucra cambio de citocina (C) por guanina (G), resultando la sustitución de una cisteína por una serina en el codón 326 (Ser326Cis), ha demostrado disminución en la reparación del ADN oxidado. Estudios del polimorfismo Ser326Cis en hombres españoles y asiáticos con infertilidad demostraron que el alelo G(Cis) incrementa las ERO, impactando en la infertilidad y en la teratozoospermia. Objetivo: Conocer la prevalencia del polimorfismo Ser326Cis de OGG1 en pacientes con teratozoospermia. Método: Se analizaron parámetros espermáticos y el polimorfismo Ser326Cis de OGG1 de 81 muestras de semen con teratozoospermia. Resultados: Los genotipos detectados fueron Ser326Ser(CC) 43%, Ser326Cis(CG) 41% y Cis326Cis(GG) 16%. La frecuencia del alelo G(Cis) fue de 0.4, valor mayor a la frecuencia reportada en las bases de datos disponibles para poblaciones americanas (0.21-0.29), los parámetros espermáticos no se relacionaron con el polimorfismo Ser326Cis. Conclusión: El alelo G(Cis) es un factor que contribuye a la infertilidad.

Abstract Background: The increase in seminal reactive oxygen species (ROS) has been linked to DNA oxidation and abnormalities in sperm morphology. The enzyme 8-oxoguanine DNA glycosylase 1 (OGG1) repairs DNA oxidation. However, the presence of the polymorphism in OGG1 that involves a change of cytokine (C) to guanine (G) resulting in the substitution of a cystine for serine at codon 326 (Ser326Cys) has shown a decrease in the repair of oxidized DNA. Studies of the Ser326Cys polymorphism in Spanish and Asian men with infertility demonstrated that the G(Cys) allele increases ROS, impacting infertility and teratozoospermia. Objective: To know the prevalence of the Ser326Cys polymorphism of OGG1 in patients with teratozoospermia. Method: Sperm parameters and the Ser326Cys polymorphism of OGG1 were analyzed from 81 semen samples. Results: The genotypes detected were Ser326Ser(CC) 43%, Ser326Cys(CG) 41%, and yis326Cys(GG) 16%. The frequency of the G allele (Cys) was 0.4, a value higher than the frequency reported in the databases available for American populations (0.21-0.29), the sperm parameters were not related to the Ser326Cys polymorphism. Conclusion: The G (Cys) allele is a factor that contributes to infertility.

ABSTRACT Background: Osteoarthritis is a frequent rheumatic disease. Some single-nucleotide polymorphisms of the gene associated with fat mass and obesity are associated with increased body mass index and knee osteoarthritis. Objective: The objective of this study was to analyze the association of single nucleotide polymorphism rs1477196 of the fat mass and obesity gene with primary knee osteoarthritis. Methods: This observational and cross-sectional study included 347 Mexican participants. We performed the genotypification analysis with TaqMan® probe C_2031262_10 for rs1477196 (Thermo Fisher Scientific). Multivariate analysis included covariables such as age, type 2 diabetes, obesity, and postmenopause. Results: Type 2 diabetes, obesity, and postmenopause were associated with primary knee osteoarthritis in female participants. We did not find an association between rs1477196 and obesity. In the codominant and dominant genetic models, rs1477196 was significantly associated with primary knee osteoarthritis only in the female group, including in the model adjusted by other covariables (odds ratio = 2.517; 1.035-6.123; p = 0.042 and odds ratio = 2.387; 1.054-5.407; p = 0.037, respectively). The interaction between rs1477196 and obesity was significantly associated with primary knee osteoarthritis in female participants (p = 0.039 and p = 0.043). Conclusions: Our findings suggest that the rs1477196 variant of the fat and obesity mass gene may be associated with the risk of primary knee osteoarthritis in women.

RESUMEN Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología.

ABSTRACT Introduction: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. Objective: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. Materials and methods: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multigene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. Results: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). Conclusion: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Abstract The present work was to study the genetic variability between the major carps Labeo rohita and Cirrhinus mrigala and their hybrids of L. rohita (male♂) and C. mrigala (female♀). Genetic variability was studied by employing RAPD molecular markers. 25 samples of each target species having different sizes with the same age group for the determination of interspecific variation were collected. The morphometric parameters such as body weight, total length, tail length, and lengths of dorsal and anal fins of each individual were recorded and results showed that wet body weight, total length, dorsal fin, anal fin, and tail fin length are positively correlated and then the DNA was extracted using the inorganic salt-based method and conformed by Gel electrophoresis. Twenty-four arbitrary decamer primers were used to get species-specific RAPD analysis Distinct and highly reproducible RAPD profiles with significant genetic variability was detected among species. Only five primers showed amplification. The RAPAD primer OPB-05 produced a total of seven bands out of these 5 monomorphic and 2 polymorphic, so in this case, the percentage polymorphism was 28.57%. The Hybrid show more than a 50% difference from the Labeo rohita. This shows that the Hybrid more resembles C.mrigala. Phylogenetic analysis demonstrated that hybrid (L. rohita ♂ X Cirrhinus mrigala ♀) is the closest to C. mrigala and the farthest from L. rohita. Overall data are presented concerning the applications of RAPD markers for hybrid identification, genetic diversity assessment, and studying taxonomic relationships at a molecular level. L male♂ male (male♂ C female♀. female female♀ . (female♀) collected weight saltbased salt based electrophoresis Twentyfour Twenty four speciesspecific specific amplification OPB05 OPB 05 OPB-0 polymorphic case 2857 28 57 28.57% 50 Cmrigala C.mrigala (L ♀ identification assessment level (male (female♀ OPB0 0 OPB- 285 28.57 (female 28.5 28.

Resumo O presente trabalho teve como objetivo estudar a variabilidade genética entre as carpas maiores Labeo rohita e Cirrhinus mrigala e seus híbridos de L. rohita (machos) e C. mrigala (fêmeas). A variabilidade genética foi estudada empregando marcadores moleculares RAPD. 25 amostras de cada espécie-alvo com tamanhos diferentes e com a mesma faixa etária foram coletadas para a determinação da variação interespecífica. Os parâmetros morfométricos como peso corporal, comprimento total, comprimento da cauda e comprimento das nadadeiras dorsal e anal de cada indivíduo foram registrados. O DNA foi extraído através do método à base de sal inorgânico e conformado por eletroforese em gel. 24 primers decâmeros arbitrários foram usados para obter a análise RAPD espécie-específica. Perfis RAPD distintos e altamente reprodutíveis com significativa variabilidade genética foram detectados entre as espécies. Apenas 5 primers apresentaram amplificação. O primer RAPAD OPB-05 produziu um total de 7 bandas, dessas, 5 monomórficas e 2 polimórficas, portanto, neste caso, o percentual de polimorfismo foi de 28,57%. O Hybrid mostrou mais de 50% de diferença do Labeo rohita. Isso mostra que o híbrido se parece mais com o C.mrigala. A análise filogenética demonstrou que o híbrido (L. rohita macho X Cirrhinus mrigala fêmea) é o mais próximo de C. mrigala e o mais distante de L. rohita. Foram apresentados dados relativos à aplicação de marcadores RAPD para identificação de híbridos, avaliação de diversidade genética e estudo de relações taxonômicas ao nível molecular. L machos (machos C fêmeas. fêmeas . (fêmeas) espéciealvo espécie alvo interespecífica corporal registrados gel espécieespecífica. espécieespecífica específica. específica espécie-específica espécies amplificação OPB05 OPB 05 OPB-0 bandas dessas polimórficas portanto caso 2857 28 57 28,57% 50 Cmrigala C.mrigala (L fêmea molecular (fêmeas OPB0 0 OPB- 285 28,57 28,5 28,

ABSTRACT Objective: Nonalcoholic fatty liver disease (NAFLD) is a chronic liver disease and a growing global epidemic. In NAFLD, liver fat surpasses 5% of hepatocytes without the secondary causes of lipid accumulation or excessive alcohol consumption. Given the link between NAFLD and insulin resistance, the possible association between the rs2854744 (−202 G>T) promoter polymorphism of insulin-like growth factor binding protein 3 (IGFBP3) gene and NAFLD was investigated in this study. Materials and methods: In this genetic case-control association study, the IGFBP3 rs2854744 genotypes of 315 unrelated individuals, including 156 patients with biopsy-proven NAFLD and 159 controls, were determined using polymerase chain reaction/restriction fragment length polymorphism analyses. Results: The “GT+TT” genotype of the IGFBP3 rs2854744 polymorphism, compared with the “GG” genotype, was associated with a 2.7-fold increased risk of NAFLD after adjustment for confounding factors (P = 0.009; odds ratio [OR] = 2.71; 95% confidence interval [CI] = 1.19-3.18). Additionally, the IGFBP3 rs2854744 “T” allele, in comparison with the “G” allele, was significantly overrepresented in NAFLD patients than the controls (P = 0.008; OR = 1.85; 95%CI = 1.23-2.94). Conclusion: Our findings first indicated that the IGFBP3 rs2854744 “GT+TT” genotype is a marker of increased NAFLD susceptibility; however, it needs to be supported by further investigations in other populations. Objective (NAFLD epidemic 5 consumption resistance rs rs285474 −202 202 (−20 G>T GT G T insulinlike like IGFBP (IGFBP3 study methods casecontrol case control 31 individuals 15 biopsyproven biopsy proven reactionrestriction reaction restriction analyses Results GT+TT GTTT TT “GT+TT GG “GG 2.7fold 27fold fold 2.7 2 7 P 0.009 0009 0 009 [OR 2.71 271 71 95 CI [CI 1.193.18. 119318 1.19 3.18 . 1 19 18 1.19-3.18) Additionally “T allele “G 0.008 0008 008 1.85 185 85 95CI 1.232.94. 123294 1.23 2.94 23 94 1.23-2.94) Conclusion susceptibility however populations rs28547 −20 20 (−2 (IGFBP 7fold 27 2. 0.00 000 00 9 193 1.193.18 11931 119 1.1 318 3.1 1.19-3.18 1.8 8 232 1.232.94 12329 123 1.2 294 2.9 1.23-2.94 rs2854 −2 (− 0.0 1.193.1 1193 11 1. 3. 1.19-3.1 1.232.9 1232 12 29 1.23-2.9 rs285 − ( 0. 1.193. 1.19-3. 1.232. 1.23-2. rs28 1.193 1.19-3 1.232 1.23-2 rs2 1.19- 1.23-

ABSTRACT Objective: To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 T(-107)C) genes and chronic diseases (diabetes and hypertension) in women. Materials and methods: Genomic DNA was extracted from saliva samples of 78 women between 18 and 59 years old used for genetic polymorphism screening. Biochemical data were collected from the medical records in Basic Health Units from Southern Brazil. Questionnaires about food consumption, physical activity level and socioeconomic status were applied. Results: The XX genotype of ACTN3 was associated with low HDL levels and high triglycerides, total cholesterol and glucose levels. Additionally, high triglycerides and LDL levels were observed in carriers of the TT genotype of PON1, and lower total cholesterol levels were associated to the CC genotype. As expected, women with diabetes/hypertense had increased body weight, BMI (p = 0.02), waist circumference (p = 0.01), body fat percentage, blood pressure (p = 0.02), cholesterol, triglycerides (p = 0.02), and blood glucose (p = 0.01), when compared to the control group. Conclusion: Both ACTN3 R577X and PON1 T(-107)C polymorphisms are associated with nutritional status and blood glucose and lipid levels in women with diabetes/hypertense. These results contribute to genetic knowledge about predisposition to obesity-related diseases. Objective ACE I/D, ID I/D , I D I/D) ACTN (ACTN RX R X PON (PON T107C TC T 107 C diabetes hypertension methods 7 5 screening Brazil consumption applied Results Additionally expected diabeteshypertense hypertense weight p 0.02, 002 0.02 0 02 0.02) 0.01, 001 0.01 01 0.01) percentage group Conclusion obesityrelated obesity related 10 00 0.0 0.

ABSTRACT Background: Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persistence has been well characterized in Caucasian populations, but there are no studies evaluating the concordance between C/T-13910 polymorphism genotyping results and LTT results in Brazil, where the population is highly mixed. Objective: We aimed to evaluate agreement between presence of C/T-13910 polymorphism genotyping and malabsorption in LTT results. Methods: This is a retrospective analysis of a Brazilian population whose data were collected from a single laboratory database present in several Brazilian states. Results of individuals who underwent both genetic testing for lactose intolerance (C/T-13910 polymorphism genotyping) and an LTT from April 2016 until February 2019 were analysed to evaluate agreement between tests. Groups were classified according to age (<10-year-old (yo), 10-17 yo, ≥18 yo groups) and state of residence (São Paulo or Rio Grande do Sul). Results: Among the 404 patients evaluated, there was agreement between the genotyping and LTT results in 325 (80.4%) patients and discordance in 79 (19.6%) patients (k=0.42 -moderate agreement). Regarding the genotype, 47 patients with genotype C/C (lactase nonpersistence) had normal LTT results, and 32 with genotype C/T or T/T (indicating lactase persistence) had abnormal LTT results. Neither age nor state of residence (Rio Grande do Sul or São Paulo) affected the agreement between test results. Conclusion: Considering the moderate agreement between C/T-13910 polymorphism genotyping and LTT results (κ=0.42) in the Brazilian population, we hypothesize that an analysis of other polymorphisms could be a strategy to improve the agreement between genotyping and established tests and suggest that additional studies should focus on exploring this approach. Background (LTT Brazil indirect lowcost low cost practice C/T13910 CT13910 CT 13910 C T C/T-1391 populations mixed Objective Methods states (C/T-1391 201 <10yearold 10yearold yearold <10 year old 10 , (yo) 1017 17 10-1 18 ≥1 groups Sul. . Sul) 40 evaluated 80.4% 804 80 4 (80.4% 7 19.6% 196 19 6 (19.6% k=0.42 k042 k 0 42 (k=0.4 agreement. agreement) CC nonpersistence 3 TT indicating Conclusion κ=0.42 κ042 κ (κ=0.42 approach T13910 C/T1391 CT1391 1391 C/T-139 (C/T-139 20 <1 1 (yo 101 10- ≥ 80.4 8 (80.4 19.6 (19.6 k=0.4 k04 (k=0. κ=0.4 κ04 (κ=0.4 T1391 C/T139 CT139 139 C/T-13 (C/T-13 2 < 80. (80. 19. (19. k=0. k0 (k=0 κ=0. κ0 (κ=0. T139 C/T13 CT13 13 C/T-1 (C/T-1 (80 (19 k=0 (k= κ=0 (κ=0 T13 C/T1 CT1 C/T- (C/T- (8 (1 k= (k κ= (κ= T1 (C/T ( (κ

RESUMO Contexto: O teste de tolerancia à lactose (TTL) é ampliamente utilizado por ser minimamente invasivo e de baixo custo, disponível na atenção primária e muito útil na prática clínica. Está bem estabelecido o polimorfismo C/T-13910 na persistência da lactase em populações caucasianas, mas não há estudos avaliando a concordância entre os resultados da genotipagem do polimorfismo C/T-13910 e do TTL no Brasil, onde a população é altamente miscigenada. Objetivo: Avaliar a concordância entre a presença do polimorfismo C/T-13910 e a má absorção nos resultados do TTL. Métodos: Análise retrospectiva de dados coletados de um laboratorio presente em vários estados brasileiros. Os resultados dos pacientes que realizaram um teste genético para intolerância à lactose (genotipagem do polimorfismo C/T-13910) e um TTL de abril de 2016 a fevereiro de 2019 foram analisados para avaliar a concordância entre os testes. Os grupos foram classificados de acordo com a idade (<10 anos; 10-17 anos, ≥18 anos) e estado de residência (São Paulo ou Rio Grande do Sul). Resultados: Entre os 404 pacientes avaliados, houve concordância entre os resultados de genotipagem e TTL em 325 (80,4%) pacientes e discordância em 79 (19,6%) pacientes (K=0,42 - concordância moderada). Em relação ao genótipo, 47 pacientes com genótipo C/C (não persistência de lactase) apresentaram TTL normal e 32 com genótipo C/T ou T/T (indicando persistência da lactase) apresentaram TTL anormal. A idade e o estado de residência (Rio Grande do Sul ou São Paulo) não afetaram a concordância entre os resultados dos exames. Conclusão: Considerando a concordância moderada entre a genotipagem do polimorfismo C/T-13910 e os resultados de TTL (κ=0,42) na população brasileira, sugerimos que a análise de outros polimorfismos poderia ser uma estratégia para melhorar a concordância entre os testes. Contexto (TTL custo clínica C/T13910 CT13910 CT 13910 C T C/T-1391 caucasianas Brasil miscigenada Objetivo Métodos brasileiros 201 testes <10 10 (<1 anos 1017 17 10-1 18 ≥1 Sul. . Sul) Resultados 40 avaliados 80,4% 804 80 4 (80,4% 7 19,6% 196 19 6 (19,6% K=0,42 K042 K 0 42 (K=0,4 moderada. moderada) CC 3 TT indicando anormal exames Conclusão κ=0,42 κ042 κ (κ=0,42 brasileira T13910 C/T1391 CT1391 1391 C/T-139 20 <1 1 (< 101 10- ≥ 80,4 8 (80,4 19,6 (19,6 K=0,4 K04 (K=0, κ=0,4 κ04 (κ=0,4 T1391 C/T139 CT139 139 C/T-13 2 < ( 80, (80, 19, (19, K=0, K0 (K=0 κ=0, κ0 (κ=0, T139 C/T13 CT13 13 C/T-1 (80 (19 K=0 (K= κ=0 (κ=0 T13 C/T1 CT1 C/T- (8 (1 K= (K κ= (κ= T1 (κ

Abstract To evaluate the impact of genetic polymorphisms in interleukins (IL1A rs17561, rs1304037; IL10 rs1800871; IL1RN rs9005), nitric oxide (NOS2 rs2779249, rs2897518) and suppressor of cytokine signaling (SOCS1 rs243327, rs33977706) on oral health-related quality of life (OHRQoL) of patients under-going root canal treatment (RCT). Methods: The sample consisted of 108 participants, presenting single-rooted teeth with asymptomatic periapical periodontitis. The impact of the OHRQoL was recorded using the Oral Health Impact Profile (OHIP-14) before, seven, and 30 days after RCT. Saliva samples were collected as a source of genomic DNA. Genetic polymorphisms were genotyped by Real-Time PCR using the Taqman method. Univariate and Multivariate analyses were used (p<0.05). Results: A significant difference was observed for the polymorphism rs2297518 in the NOS2 gene in functional limitation in the codominant (p=0.037) and recessive (p=0.001) models; in the physical pain (p<0.001 in both models); in psychological discomfort (p<0.001 in both models); in physical disability (p<0.001 in both models) and in psychological disability (p<0.001 in both models). Polymorphisms in the SOCS1 gene, in the recessive model, rs33977706 (p=0.045) and rs243327 (p=0.019), influenced the OHRQoL in the psychological discomfort domain. Conclusions: Polymorphisms in NOS2 and SOCS1 genes influenced the OHRQoL of patients undergoing RCT. IL1A ILA IL rs17561 rs rs1304037 IL1 rs1800871 ILRN RN rs9005, rs9005 , rs9005) NOS (NOS rs2779249 rs2897518 SOCS (SOCS healthrelated health related (OHRQoL under going RCT . (RCT) Methods 10 participants singlerooted single rooted periodontitis OHIP14 OHIP 14 (OHIP-14 before seven 3 DNA RealTime Real Time method p<0.05. p005 p p<0.05 0 05 (p<0.05) Results rs229751 p=0.037 p0037 037 (p=0.037 p=0.001 p0001 001 (p=0.001 models p<0.001 (p<0.00 models. model rs3397770 p=0.045 p0045 045 (p=0.045 rs24332 p=0.019, p0019 p=0.019 019 (p=0.019) domain Conclusions rs1756 rs130403 rs180087 rs900 rs277924 rs289751 (RCT 1 OHIP1 (OHIP-1 p00 p<0.0 (p<0.05 rs22975 p=0.03 p003 03 (p=0.03 p=0.00 p000 00 (p=0.00 p<0.00 (p<0.0 rs339777 p=0.04 p004 04 (p=0.04 rs2433 p001 p=0.01 01 (p=0.019 rs175 rs13040 rs18008 rs90 rs27792 rs28975 (OHIP- p0 p<0. rs2297 p=0.0 (p=0.0 (p<0. rs33977 rs243 (p=0.01 rs17 rs1304 rs1800 rs9 rs2779 rs2897 (OHIP p<0 rs229 p=0. (p=0. (p<0 rs3397 rs24 rs1 rs130 rs180 rs277 rs289 p< rs22 p=0 (p=0 (p< rs339 rs2 rs13 rs18 rs27 rs28 p= (p= (p rs33 rs3

Resumo Avaliar o impacto de polimorfismos genéticos em interleucinas (IL1A rs17561, rs1304037; IL10 rs1800871; IL1RN rs9005), óxido nítrico (NOS2 rs2779249, rs2897518) e supressor da sinalização de citocinas (SOCS1 rs243327, rs33977706) na qualidade de vida relacionada à saúde bucal (QVRSB) de pacientes submetidos a tratamento endodôntico (TE). Métodos: A amostra foi composta por 108 participantes, que apresentavam dentes unirradiculares com lesão periapical assintomática. O impacto da QVRSB foi registrado usando o Oral Health Impact Profile (OHIP-14) antes, sete e 30 dias após o TE. Amostras de saliva foram coletadas como fonte de DNA genômico. Os polimorfismos genéticos foram genotipados por PCR em tempo real usando o método Taqman. Análises univariadas e multivariadas foram utilizadas (p<0,05). Resultados: Observou-se diferença significativa para o polimorfismo rs2297518 no gene NOS2 na limitação funcional nos modelos codominante (p=0,037) e recessivo (p=0,001); na dor física (p<0,001 em ambos os modelos); no desconforto psicológico (p<0,001 em ambos os modelos); na deficiência física (p<0,001 em ambos os modelos) e na deficiência psicológica (p<0,001 em ambos os modelos). Polimorfismos no gene SOCS1, no modelo recessivo, rs33977706 (p=0,045) e rs243327 (p=0,019), influenciaram a QVRSB no domínio desconforto psicológico. Conclusões: Polimorfismos nos genes NOS2 e SOCS1 influenciaram a QVRSB de pacientes submetidos a TE. IL1A ILA IL rs17561 rs rs1304037 IL1 rs1800871 ILRN RN rs9005, rs9005 , rs9005) NOS (NOS rs2779249 rs2897518 SOCS (SOCS (QVRSB TE . (TE) Métodos 10 participantes assintomática OHIP14 OHIP 14 (OHIP-14 antes 3 genômico Taqman p<0,05. p005 p p<0,05 0 05 (p<0,05) Resultados Observouse Observou se rs229751 p=0,037 p0037 037 (p=0,037 p=0,001 p0001 001 (p=0,001) p<0,001 (p<0,00 modelos. rs3397770 p=0,045 p0045 045 (p=0,045 rs24332 p=0,019, p0019 p=0,019 019 (p=0,019) Conclusões rs1756 rs130403 rs180087 rs900 rs277924 rs289751 (TE 1 OHIP1 (OHIP-1 p00 p<0,0 (p<0,05 rs22975 p=0,03 p003 03 (p=0,03 p=0,00 p000 00 (p=0,001 p<0,00 (p<0,0 rs339777 p=0,04 p004 04 (p=0,04 rs2433 p001 p=0,01 01 (p=0,019 rs175 rs13040 rs18008 rs90 rs27792 rs28975 (OHIP- p0 p<0, rs2297 p=0,0 (p=0,0 (p=0,00 (p<0, rs33977 rs243 (p=0,01 rs17 rs1304 rs1800 rs9 rs2779 rs2897 (OHIP p<0 rs229 p=0, (p=0, (p<0 rs3397 rs24 rs1 rs130 rs180 rs277 rs289 p< rs22 p=0 (p=0 (p< rs339 rs2 rs13 rs18 rs27 rs28 p= (p= (p rs33 rs3

Abstract Background In a recent genome-wide association study, novel genetic variations of WNT9A were reported to be involved in the etiopathogenesis of thumb osteoarthritis (TOA) in Caucasians. Our purposes were to replicate the association of WNT9A with the development of TOA in the Chinese population and to further unveil the functional role of the risk variants. Methods SNP rs11588850 of WNT9A were genotyped in 953 TOA patients and 1124 healthy controls. The differences of genotype and allele distributions between the patients and healthy controls were evaluated using the Chi-square test. Luciferase Reporter Assay was performed to investigate the influence of variant on the gene expression. Results There was significantly lower frequency of genotype AA in TOA patients than in the controls 74.9% vs. 81.9%, p < 0.001). The frequency of allele A was remarkably lower in the patients than in the controls (86.3% vs. 90.5%, p < 0.001), with an odds ratio of 0.66 (95% CI = 0.54–0.80). Luciferase Reporter Assay showed that the construct containing mutant allele G of rs11588850 displayed 29.1% higher enhancer activity than the wild allele A construct (p < 0.05). Conclusions Allele G of rs11588850 was associated with the increased risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA. Key Points Genetic variants of WNT9A were associated with the incidence and severity of TOA. Allele G of rs11588850 was associated with an increased transcriptional activity of WNT9A promoter. Allele G of rs11588850 may add to the risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA. genomewide genome wide study WNTA WNT (TOA Caucasians rs rs1158885 95 112 Chisquare Chi square test 749 74 9 74.9 vs 819 81 81.9% 0.001. 0001 0.001 . 0 001 0.001) 86.3% 863 86 3 (86.3 905 90 5 90.5% 0.001, , 066 66 0.6 95% (95 0.54–0.80. 054080 0.54–0.80 54 80 0.54–0.80) 291 29 1 29.1 0.05. 005 0.05 05 0.05) upregulation up regulation promoter rs115888 11 7 74. 8 81.9 000 0.00 00 86.3 (86. 90.5 06 6 0. (9 05408 0.54–0.8 2 29. 0.0 rs11588 81. 86. (86 90. ( 0540 0.54–0. rs1158 (8 054 0.54–0 rs115 0.54– rs11 0.54 rs1 0.5

Abstract The disease coronavirus COVID-19 has been the cause of millions of deaths worldwide. Among the proteins of SARS-CoV-2, non-structural protein 12 (NSP12) plays a key role during COVID infection and is part of the RNA-dependent RNA polymerase complex. The monitoring of NSP12 polymorphisms is extremely important for the design of new antiviral drugs and monitoring of viral evolution. This study analyzed the NSP12 mutations detected in circulating SARS-CoV-2 during the years 2020 to 2022 in the population of the city of Manaus, Amazonas, Brazil. The most frequent mutations found were P323L and G671S. Reports in the literature indicate that these mutations are related to transmissibility efficiency, which may have contributed to the extremely high numbers of cases in this location. In addition, two mutations described here (E796D and R914K) are close and have RMSD that is similar to the mutations M794V and N911K, which have been described in the literature as influential on the performance of the NSP12 enzyme. These data demonstrate the need to monitor the emergence of new mutations in NSP12 in order to better understand their consequences for the treatments currently used and in the design of new drugs. COVID19 19 COVID-1 worldwide SARSCoV2, SARSCoV2 SARSCoV SARS CoV 2, 2 nonstructural non structural 1 NSP (NSP12 RNAdependent dependent complex NSP1 evolution SARS-CoV- 202 Manaus Amazonas Brazil PL P L G671S GS G S efficiency location addition E796D ED E D R914K RK R K MV M V N911K NK N enzyme COVID1 COVID- (NSP1 SARS-CoV 20 (NSP

ABSTRACT. Citrus tristeza virus (CTV) can be transmitted by several aphid species in a semi-persistent mode, with Toxoptera citricida being the most efficient vector. In Brazil, mild CTV isolates are used for pre-immunization of citrus trees against severe isolates. We aimed to determine the capacity and efficiency of T. citricida in separating the viral complex into haplotypes from three well-characterized CTV isolates (PIAC, CS1, and Forte Rolândia). Single-aphid transmission assays were conducted to determine CTV transmission efficiency. The results showed that T. citricida transmitted only haplotypes from the PIAC and CS1 isolates, with efficiencies of 8 and 4%, respectively. Both isolates caused mild CTV symptoms in Brazil. However, isolate Forte Rolândia, which causes severe symptoms in citrus trees, was not transmitted by T. citricida. The detection of CTV haplotypes from PIAC and CS1 isolates in sweet orange (Citrus sinensis) plants after a single aphid transmission occurred at different time points. The first haplotype observed was from PIAC 150 days after citrus was challenged by a single aphid, followed by CS1 at day 210 after transmission. In addition, differences in the single-strand conformation polymorphism patterns between the CTV isolates and CTV haplotypes were determined, suggesting that an aphid can acquire and transmit only one CTV haplotype to citrus plants during phloem feeding. The study of the mechanism of transmission by the vector can increase our knowledge of the interactions among hosts, vectors, and pathogens, which are often neglected. ABSTRACT (CTV semipersistent semi persistent mode Brazil preimmunization pre immunization T wellcharacterized well characterized PIAC, (PIAC CS Rolândia. Rolândia . Rolândia) Singleaphid Single 4 4% respectively However sinensis points 15 21 addition singlestrand strand determined feeding hosts vectors pathogens neglected 1 2

Abstract Cichlid fishes exhibit rapid adaptive radiations with significant diversification rates in response to ecological variability, i.e., ecological opportunity or geographical isolation. The discovery of a Midas cichlid species in Lake Batur, Indonesia's largest volcanic lake, first reported in 2013, could represent such adaptations. Midas cichlids can now be found in a range of habitats in Lake Batur and dominate the lake's fish population by up to 60%. This study aimed to identify the interaction between habitat, water quality, and Midas cichlid in Lake Batur, facilitating morphometric variances in the fish populations. The fish were captured at five locations in Lake Batur using fishing rods, community nets with mesh sizes of 2–3 inches, experimental gillnets with mesh sizes of 1 inch, and fish scoops in floating net cages during August and November 2022. There were 46 fish samples caught from the five stations, all photographed using a digital camera and later measured using the ZEN 2012 software. The fish measurement employed a truss morphometric method using 21 distinct morphometric body features. Canonical analysis was used to determine the distribution of characteristics, while discriminant analysis was used to examine the closeness of association. The measured water quality parameters included pH, DO, temperature, conductivity, and TDS for in-situ and TSS, TP, TN, and chlorophyll A for ex-situ. The findings revealed morphometric changes among Midas cichlid species in Lake Batur caused by habitat and water quality differences. The distinction can be detected in the anterior and posterior bodies (C1, B1, C3, C6, C5, B3 and B4). Temperature and aquatic plants, Azolla pinnata, may detect the station and shape of fish in Lake Batur. Body shape cannot be identified by chlorophyll A, TN, DO, and TDS. Future genetic research could answer why fish groups with varied body types coexist in the same location. variability ie i e i.e. isolation Indonesias Indonesia s lake 2013 adaptations lakes 60 60% populations rods 23 2 3 2– inches inch 2022 4 stations 201 software features characteristics association pH DO temperature conductivity insitu situ TSS TP TN exsitu. exsitu ex situ. ex-situ differences C1, C1 C (C1 B1 B C3 C6 C5 B4. B4 . B4) plants pinnata location i.e 6 202 20 (C

Resumo Os peixes ciclídeos exibem radiações adaptativas rápidas com taxas de diversificação significativas em resposta à variabilidade ecológica, ou seja, oportunidade ecológica ou isolamento geográfico. A descoberta de uma espécie de ciclídeo Midas em Lago Batur, o maior lago vulcânico da Indonésia, relatada pela primeira vez em 2013, poderia representar tais adaptações. Os ciclídeos Midas agora podem ser encontrados em uma variedade de hábitats no Lago Batur, onde dominam a população de peixes em até 60%. Este estudo teve como objetivo identificar a interação entre hábitat, qualidade da água e ciclídeo Midas no Lago Batur, facilitando variações morfométricas nas populações de peixe. Os peixes foram capturados em cinco locais no Lago Batur usando varas de pesca, redes comunitárias com malhas de 2-3 polegadas, redes de emalhar experimentais com malhas de 1 polegada e colheres de peixe em gaiolas de rede flutuantes, durante agosto e novembro de 2022. Foram capturadas 46 amostras de peixes nas cinco estações, todas fotografadas com câmera digital e posteriormente medidas no software ZEN 2012. A medição dos peixes empregou um método morfométrico de treliça usando 21 características morfométricas distintas do corpo. A análise canônica foi utilizada para determinar a distribuição das características, enquanto a análise discriminante foi empregada para examinar a proximidade da associação. Os parâmetros de qualidade da água medidos incluíram pH, OD, temperatura, condutividade e TDS para in situ, e TSS, TP, TN e clorofila A para ex situ. As descobertas revelaram mudanças morfométricas entre as espécies de ciclídeos Midas no Lago Batur, causadas por diferenças de hábitat e qualidade da água. A distinção pode ser detectada nos corpos anterior e posterior (C1, B1, C3, C6, C5, B3 e B4). A temperatura e as plantas aquáticas, Azolla pinnata, podem detectar a estação e o formato dos peixes no Lago Batur. A forma do corpo não pode ser identificada pela clorofila A, TN, OD e TDS. Futuras pesquisas genéticas poderiam responder por que grupos de peixes com tipos corporais variados coexistem no mesmo local. seja geográfico Indonésia 2013 adaptações 60 60% pesca 23 2 3 2- polegadas flutuantes 2022 4 estações 2012 associação pH situ TSS TP C1, C1 C (C1 B1 B C3 C6 C5 B4. B4 . B4) aquáticas pinnata local 201 6 202 (C 20