Resumo A ferrugem da folha, causada por Puccinia triticina, é a ferrugem mais comum do trigo. O fungo é um parasita obrigatório, capaz de produzir urediniósporos infecciosos. Para estudar a estrutura genética da população de ferrugem da folha, 20 primers RAPD foram avaliados em 15 amostras de isolados coletadas no Paquistão. Um total de 105 fragmentos RAPD foram amplificados com uma média de 7 fragmentos por primer. O número de fragmentos amplificados variou de 1 a 12. GL Decamer L-07 e GL Decamer L-01 amplificaram o maior número de bandas (doze), e o primer GL Decamer A-03 amplificou o menor número de bandas, ou seja, um. Os resultados mostraram que quase todos os isolados investigados eram geneticamente diferentes, o que confirma a alta diversidade genética na população de ferrugem da folha. Os esporos de ferrugem podem seguir o padrão de migração em distâncias curtas e longas para áreas vizinhas. Os resultados indicaram que a maior variabilidade foi revelada por 74,9% da diferenciação genética nas populações de ferrugem. Esses resultados sugeriram que cada população não era completamente idêntica e um alto fluxo gênico ocorreu entre a população de ferrugem da folha de diferentes áreas. A maior diferenciação e distância genética entre as populações de ferrugem da folha do Paquistão foram detectadas entre a população de ferrugem da folha no isolado NARC (NARC-4) e AARI-11 e a maior similaridade foi observada entre os isolados NARC (NARC-4) e (NARC-5). O presente estudo mostrou que a população de ferrugem da folha no Paquistão é altamente dinâmica e variável.

Abstract Leaf rust, caused by Puccinia triticina, is the most common rust disease of wheat. The fungus is an obligate parasite capable of producing infectious urediniospores. To study the genetic structure of the leaf rust population 20 RAPD primers were evaluated on 15 isolates samples collected in Pakistan. A total of 105 RAPD fragments were amplified with an average of 7 fragments per primer. The number of amplified fragments varied from 1 to 12. GL Decamer L-07 and GL Decamer L-01 amplified the highest number of bands (twelve) and primer GL Decamer A-03 amplified the lowest number of bands i.e one. Results showed that almost all investigated isolates were genetically different that confirms high genetic diversity within the leaf rust population. Rust spores can follow the migration pattern in short and long distances to neighbor areas. Results indicated that the greatest variability was revealed by 74.9% of genetic differentiation within leaf rust populations. These results suggested that each population was not completely identical and high gene flow has occurred among the leaf rust population of different areas. The highest differentiation and genetic distance among the Pakistani leaf rust populations were detected between the leaf rust population in NARC isolate (NARC-4) and AARI-11and the highest similarity was observed between NARC isolates (NARC-4) and (NARC-5). The present study showed the leaf rust population in Pakistan is highly dynamic and variable.

Resumo O presente estudo teve como objetivo investigar a relação entre polimorfismos em genes desintoxicantes (GSTM1, GSTT1 e GSTP1) e sua associação com câncer colorretal (CCR) em tabagistas da etnia pashtun. Os polimorfismos nos genes selecionados foram genotipados em um estudo de caso-controle composto por 100 pacientes do sexo masculino com CCR, confirmados histologicamente, e 100 controles saudáveis, pareados por ano de nascimento e sexo usando o método PCR-RFLP. Os genótipos GSTM1 nulo e GSTT1 nulo contribuíram significativamente para o risco de CCR nos casos (OR = 3,131, IC 95%: 1,451-6,758, P = 0,004; OR = 3,541, IC 95%: 1,716-7,306, P = 0,001, respectivamente), enquanto a associação observada para GSTP1 Val/Val (1,139, IC 95%: 0,356-3,644, P = 0,826) não apresentou significância estatística. O GSTM1 nulo e o GSTT1 nulo combinados mostraram um risco 41 vezes maior (IC 95%: 4,945-351,950, P = 0,001) para CCR, enquanto os genótipos GSTM1 nulo e GSTP1 Ile/Val ou Val/Val combinados apresentaram risco cerca de 3 vezes maior (IC 95%: 1,196-7,414, P = 0,019) para CCR. Da mesma forma, os genótipos combinados GSTT1 nulo e GSTP1 Ile/Val ou Val/Val tiveram um risco para CRC cerca de 3 vezes maior (95% CI: 1,285-8,101, P = 0,013). Na combinação de três genótipos GST, os genótipos GSTM1 nulo, GSTT1 nulo e GSTP1 Ile/Val ou Val/Val apresentaram um risco 22 vezes maior (IC 95%: 2,441-212,106, P = 0,006) para CRC. Nossos achados sugerem que o polimorfismo GSTM1 e GSTT1 e sua combinação com GSTP1 podem estar associados à suscetibilidade ao CRC da população pashtun de Khyber Pakhtunkhwa, Paquistão, viciada em Naswar.

Abstract The current study aimed to investigate the relationship between polymorphisms in detoxifying (GSTM1, GSTT1, and GSTP1) genes and their association with colorectal cancer (CRC) in tobacco addicts of Pashtun ethnicity. Polymorphisms in the selected genes were genotyped in a case-control study consisting of 100 histologically confirmed male CRC patients and 100 birth-year and gender-matched healthy controls using the PCR−RFLP method. The GSTM1 null, and GSTT1 null genotypes were significantly contributed to the risk of CRC in the cases (OR= 3.131, 95% CI: 1.451−6.758, P = 0.004, and OR= 3.541, 95% CI: 1.716−7.306, P = 0.001, respectively), whereas the association observed for GSTP1 Val/Val (1.139, 95% CI: 0.356−3.644, P = 0.826) did not show statistical significance. The combined GSTM1 null and GSTT1 null showed a 41-fold increased risk (95% CI: 4.945−351.950, P = 0.001), while, the combined GSTM1 null and GSTP1 Ile/Val or Val/Val variant genotypes exhibited about 3-fold (95% CI: 1.196−7.414, P = 0.019) increased risk to CRC. Similarly, the combined GSTT1 null and GSTP1 Ile/Val or Val/Val variant genotypes showed about a 3-fold (95% CI: 1.285−8.101, P = 0.013) increased risk of CRC. In the combination of three GST genotypes, the GSTM1 null, GSTT1 null, and GSTP1 Ile/Val or Val/Val variant genotypes demonstrated a more than a 22-fold (95% CI: 2.441−212.106, P = 0.006) increased risk of CRC. Our findings suggest that GSTM1 and GSTT1 polymorphism and its combination with GSTP1 may be associated with CRC susceptibility in the Naswar addicted Pashtun population of Khyber Pakhtunkhwa, Pakistan.

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.

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.

Resumen: La anemia falciforme (AF) es la enfermedad genética más frecuente del mundo. Hay países con programas de salud pública masivos para la detección temprana esta condición. Varios haplotipos específicos y polimorfismos de una sola base (SNPs) se han asociado en la literatura con la prognosis de AF. Objetivo: Demostrar la correlación significativa de SNPS relevantes para el diagnóstico y prognosis de AF entre diferentes grupos étnicos. Metodología: se analizaron las frecuencias poblacionales y correlaciones entre varios SNPs relevantes para la prognosis de AF (ej: niveles basales de hemoglobina fetal), respuesta a tratamiento con hydroxiurea y respuesta a otras drogas utilizadas en el tratamiento de AF. Los datos fueron obtenidos de bases de datos genómicos validadas entre diferentes grupos étnicos. Resultados: Los cálculos del equilibrio de Hardy-Weinberg y la regresión logística fue exitosa en clasificar los grupos étnicos, Africano (0 = 0,78, 1 = 0,89), y con menor eficiencia; Americano (AMR) (0 = 0,88, 1 = 0,00), Asia del Este (EAS) (0 = 0,80, 1 = 0,00), Europeo (EUR) (0 = 0,79, 1 = 0,00), y Sud-Asiático (SAS) (0 = 0,80, 1 = 0,00). Conclusiones: Estos resultados, extienden los trabajos previos y muestran que el perfil de mutaciones de la mayoría de los SNPs analizados, presenta distribuciones estadísticamente significativas entre grupos étnicos generales, apuntando a la necesidad de realizar programas de testeo masivo de SNPs para AF en pacientes diagnosticados con esta patología. Se concluye que la aplicación de un programa amplio de genotipificación de mutación generara una respuesta más eficiente y personalizada en el tratamiento de AF.

Abstract: Sickle cell anemia (SCA) is the most common genetic disease worldwide. There are countries with massive public health programs for early detection of this condition. In the literature, several specific haplotypes or single-base polymorphic variants (SNPs) have been associated with the SCA prognosis. Objective: To demonstrate the significant correlation of SNPs relevant to the diagnosis and prognosis of SCA among different ethnic groups. Methodology: we analyzed population frequencies and correlations of several SNPs related to the prognosis of SCA (i.e., baseline fetal hemoglobin levels), response to hydroxyurea treatment, and response to other drugs used in the SCA treatment, collected from validated genomic databases among different ethnic groups. Results: The calculation of the Hardy-Weinberg equilibrium and the logistic regression was successful in classifying the ethnic groups as African (0 = 0.78, 1 = 0.89), and with a lower efficiency as American (AMR) (0 = 0.88, 1 = 0.00), East Asian (EAS) (0 = 0.80, 1 = 0.00), European (EUR) (0 = 0.79, 1 = 0.00), and South Asian (SAS) (0 = 0.80, 1 = 0.00). Conclusions: The results extend those from previous reports and show that the profile of most of the SNPs studied presented statistically significant distributions among general ethnic groups, pointing to the need to carry out massive early screening of relevant SNPs for SCA in patients diagnosed with this disease. It is concluded that the application of a broad mutation detection program will lead to a more personalized and efficient response in the treatment of SCA.

ABSTRACT The typical manifestations of Chikungunya are fever and arthralgia in most cases, but we must remember that they present mucocutaneous manifestations, where the most frequent is rash, they can also present atypical mucocutaneous manifestations with great polymorphism simulating various dermatoses such as cases outlined above. This report has 5 clinical cases from the month of January and February 2023 in the Central area of Paraguay, during the largest recorded Chikungunya epidemic in the country so far. It is important to know them and correlate them with the other signs and symptoms of the disease for proper diagnosis and treatment.

RESUMEN Las manifestaciones típicas de la Chikungunya son la fiebre y las artralgias en la mayoría de los casos, pero debemos recordar que presentan manifestaciones mucocutáneas, donde la más frecuente es el exantema, además pueden presentar manifestaciones mucocutáneas atípicas con un gran polimorfismo simulando varias dermatosis como los casos expuestos anteriormente. Este reporte cuenta con 5 casos clínicos del mes de enero y febrero del año 2023 en el departamento Central de Paraguay, durante la mayor epidemia de Chikungunya registrada en el país hasta el momento. Es importante conocerlas y correlacionar con los demás signos y síntomas de la enfermedad para un diagnóstico y tratamiento adecuados.

Resumen Antecedentes y objetivos: algunos estudios han demostrado una relación entre los niveles de 25-hidroxivitamina D y la presencia del síndrome metabólico. El objetivo de este estudio fue evaluar si existe una asociación entre la 25-hidroxivitamina D, la variante rs2282679 del gen GC y el síndrome metabólico (SM). Métodos: el estudio involucró a una población de 134 mujeres obesas posmenopáusicas. Se registraron parámetros antropométricos, presión arterial, marcadores de recambio óseo, glucemia en ayunas, resistencia a la insulina (HOMA-IR), perfil lipídico, proteína C reactiva y prevalencia de SM. Se evaluó el genotipo del polimorfismo del gen CG (rs2282679). Resultados: los niveles de insulina (delta: 4,6 ± 0,9 mUI/l; p = 0.02), triglicéridos (delta: 21,6 ± 2,9 mg/dl; p = 0,04) y HOMA-IR (delta: 1,1 ± 0,9 unidades; p = 0,02) fueron menores en los sujetos TT que en los pacientes TG + GG. Los porcentajes de individuos que tenían SM (OR = 2,80, IC 95 % = 1,39-5,65; p = 0,02), hipertrigliceridemia (OR = 2,39, IC 95 % = 1,44-5,96; p = 0,01) e hiperglucemia (OR = 2,72, IC 95 % = 1,23-6,00; p = 0,43) fueron mayores en los portadores del alelo G. El análisis de regresión logística mostró un mayor riesgo de SM en los portadores del alelo G (OR = 2,36, IC 95 % = 1,11-5,91; p = 0,02) y un mayor riesgo de deficiencia de 25-hidroxivitamina D (< 20 ng/ml) (OR = 2,43, IC 95 % = 1,13-6,69; p = 0,02). Conclusiones: en esta población hemos detectado una asociación negativa entre el alelo G y la resistencia a la insulina, hipertrigliceridemia, deficiencia niveles de 25-hidroxivitamina D y SM.

Abstract Background and aims: some studies have reported links between 25-hydroxyvitamin D levels and the presence of metabolic syndrome. The aim of the present study was to evaluate whether an association exists among 25-hydroxyvitamin D, rs2282679 of the GC gene and metabolic syndrome (MS). Methods: the study involved a population of 134 postmenopausal obese females. Measurements of anthropometric parameters, blood pressure, bone turnover markers, fasting blood glucose, insulin resistance (HOMA-IR), lipid profile, C-reactive protein and prevalence of MS were recorded. Genotype of CG gene polymorphism (rs2282679) was evaluated. Results: insulin (delta: 4.6 ± 0.9 mUI/l; p = 0.02), triglycerides (delta: 21.6 ± 2.9 mg/dl; p = 0.04) and HOMA-IR (delta: 1.1 ± 0.9 unit; p = 0.02) were lower in TT subjects than TG + GG patients. The percentages of individuals who had MS (OR = 2.80, 95 % CI = 1.39-5.65; p = 0.02), hypertriglyceridemia (OR = 2.39, 95 % CI = 1.44-5.96; p = 0.01), and hyperglycemia (OR = 2.72, 95 % CI = 1.23-6.00; p = 0.43) were higher in G allele carriers. Logistic regression analysis showed an increased risk of MS in G allele carriers (OR = 2.36, 95 % CI = 1.11-5.91, p = 0.02) and an increased risk of 25-hydroxyvitamin D deficiency (< 20 ng/ml) (OR = 2.43, 95 % CI = 1.13-6.69, p = 0.02), too. Conclusions: a negative association among G allele and insulin resistance, hypertriglyceridemia, deficiency of 25 hydroxyvitamin D levels and MS was reported in this population.

Abstract Introduction: The spotted snapper is a high-consumption and commercially important marine fish in Costa Rica, subjected to heavy fishing pressures, which can affect genetic diversity and generate problems due to inbreeding depression. Objective: To evaluate the genetic status of the population of Lutjanus guttatus using microsatellites. Methods: Samples were collected between 2018 and 2019, and 44 individuals from each of the localities of the Gulf of Nicoya and the Gulf of Dulce were studied. DNA extraction and amplification of ten loci with microsatellites using PCR were performed, followed by genotyping, analysis of genetic diversity, and population structure. Results: Diversity parameters indicate a high polymorphism associated with a high number of alleles obtained per locus, but with low levels of observed heterozygosity compared to expected (Ho= 0.774 and 0.800, and He= 0.948 and 0.954 for the Gulf of Nicoya and Gulf of Dulce, respectively). There is not enough evidence to say that the two populations are distinct (FST= 0.00264, P > 0.05). Deviation from Hardy-Weinberg equilibrium was recorded, indicating possible mixing of organisms of different origin from the wild environment. Conclusions: L. guttatus presents high levels of genetic diversity, without evidence of differentiation in genetic subpopulations. For fisheries management purposes, they would be considered a single panmictic population. The possible mixing with wild individuals suggests the presence of organisms derived from a restocking or commercial cultivation program carried out in the region. The use of genetic markers is recommended to maintain monitoring, follow up on restocking programs and evaluate their effect.

Resumen Introducción: El pargo mancha es un pez marino de alto consumo e interés comercial en Costa Rica que está sometido a una fuerte presión pesquera, la cual puede afectar la diversidad genética y generar problemas por depresión endogámica. Objetivo: Evaluar el estado genético de la población de Lutjanus guttatus mediante el uso microsatélites. Métodos: Se recolectaron muestras entre el 2018 y 2019 y se estudiaron 44 individuos de cada una de las localidades del Golfo de Nicoya y Golfo Dulce. Se realizó la extracción de ADN y la amplificación de diez loci con microsatélites mediante PCR, para la determinación del genotipo, análisis de diversidad genética y estructura poblacional. Resultados: Los parámetros de diversidad indican un elevado polimorfismo asociado con un alto número de alelos obtenidos por locus, pero con bajos niveles de heterocigosidad observada en comparación con la esperada (Ho= 0.774 y 0.800 y He= 0.948 y 0.954 para Golfo de Nicoya y Golfo Dulce, respectivamente). No hay evidencia suficiente para decir que las dos poblaciones son distintas (FST= 0.00264, P > 0.05). La desviación del Equilibrio de Hardy-Weinberg indica la posible mezcla de organismos de origen distinto a los del medio silvestre. Conclusiones: L. guttatus tiene niveles altos de diversidad genética, no hay evidencia de diferenciación en subpoblaciones genéticas, lo que en manejo pesquerías se considera una sola población panmíctica. La posible mezcla de individuos de origen distinto al silvestre sugiere la presencia de organismos de un programa de repoblación o de cultivos comerciales en la región. El uso de marcadores genéticos se recomienda para el monitoreo, además, en programas de repoblación y evaluar su efecto.

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

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

Resumen Las infestaciones de garrapatas representan una gran dificultad para la producción de ganado bovino en países tropicales y subtropicales alrededor del mundo. Las formas tradicionales de combate a esta plaga son químicos (acaricidas) y manejo integral de pastizales. Sin embargo, estos métodos no han logrado controlar de manera contundente la presencia de este ectoparásito. Lo anterior ha llevado a la búsqueda de vacunas que permitan el control de estos parásitos. Actualmente, se cuenta con inmunógenos que contienen el antígeno intestinal Bm86 de Rhipicephalus microplus, los cuales han demostrado ser una alternativa efectiva, al reducir las poblaciones de garrapatas y el uso de acaricidas sintéticos. No obstante, el polimorfismo de este locus en garrapatas de distintas zonas geográficas representa una limitante en su efectividad. Se han realizado un número importante de investigaciones acerca del gen Bm86 como antígeno vacunal, por lo que, en este documento, se presenta una actualización de las investigaciones realizadas con este antígeno y su potencial uso como control inmunológico para reducir las infestaciones de garrapatas en el ganado bovino.

Abstract Tick infestations represent a major difficulty for cattle production in tropical and subtropical countries around the world. The traditional ways to combat this pest are chemicals (acaricides) and integrated management of grasslands. Nevertheless, these methods have not been able to conclusively control the presence of this ectoparasite. This has led to the search for vaccines that allow the control of these parasites. Currently, there are immunogens containing the gut antigen Bm86 of Rhipicephalus microplus, which have proven to be an effective alternative, as they have reduced tick populations and the use of synthetic acaricides. However, the polymorphism of this locus in ticks from different geographical areas represents a limitation in its effectiveness. A significant number of studies have been conducted on the Bm86 gene as a vaccine antigen, so this paper presents an update on studies conducted with this antigen and its potential use as an immunological control to reduce tick infestations in cattle.

Resumen Objetivo: Investigar si el polimorfismo de la proteína cinasa 2 que interactúa con el homeodominio (HIPK2) está asociado con la formación de cálculos renales en una población turca. Método: Se inscribieron en el estudio 129 pacientes con nefrolitiasis cálcica y 67 sujetos control sanos, emparejados por sexo y edad. Las muestras de sangre se recogieron en tubos con EDTA. El ADN de los pacientes se extrajo mediante un sistema de aislamiento de ADN automatizado QIAsymphony®. Se aplicó la prueba χ2 en las comparaciones entre los grupos de pacientes y control con respecto a las diferencias de las frecuencias genotípicas y alélicas. Resultados: No se encontraron diferencias estadísticamente significativas entre los grupos en términos de incidencia de polimorfismo de nucleótido simple (PNS) en alelo simple y alelo doble en las regiones rs2058265 y rs6464214 (p = 0.13 y 0.37, respectivamente). La incidencia de PNS en alelos dobles en pacientes con nefrolitiasis en rs7456421 fue menor que en el grupo control, con una diferencia estadísticamente significativa (p = 0.001). Conclusiones: Las distribuciones de genotipo y alelo de los tres polimorfismos (rs2058265, rs6464214 y rs745642 en HIPK2) no se asociaron con un mayor riesgo de cálculos renales en esta población turca.

Abstract Objective: This study aimed to investigate whether homeodomain interacting protein kinase 2 (HIPK2) polymorphism is associated with renal stone formation in a Turkish population. Materials and methods: A total of 129 patients with calcium nephrolithiasis and 67 sex- and age-matched healthy controls were enrolled in the study. Blood samples were collected into EDTA tubes. The DNA of patients was extracted using a QIAsymphony® automated DNA isolation system. The Chi-square test was applied in the comparisons between the patient and control groups in respect of the differences in the genotype and allele frequencies. Results: No statistically significant difference was found between the groups in terms of single nucleotide polymorphism (SNP) incidence in single allele and double alleles in the rs2058265 and rs6464214 regions (p = 0.13 and 0.37, respectively). The SNP incidence in double alleles in nephrolithiasis patients at rs7456421 was statistically significantly lower than in the control group (p = 0.001). Conclusion: Distributions of the genotype and allele of the three polymorphisms (rs2058265, rs6464214, and rs745642 in HIPK2) were not associated with an increased risk of kidney stone in this Turkish population.

ABSTRACT Background: Our study aims to evaluate the impact of different factors on cancer-related cognitive impairment in patients who undergo chemotherapy. Methodology: Prospective longitudinal single-centre study that included patients with breast and colon carcinoma who underwent chemotherapy as part of their treatment. Clinical and genetic characteristics of the patients (single nucleotide polymorphisms, SNPs) were collected. Patients’ neurocognitive status was assessed using eleven validated tests at three time points: before chemotherapy (M0 - baseline), between one and four weeks after completing chemotherapy (M1), and between 24-30 weeks after completing chemotherapy (M2). Results: Sixty-two patients were included in this study; 82% were female, median age was 56 years (range 30-74), and 64.5% had been diagnosed with breast cancer. Overall, better cognitive results at M0 were associated with age < 55 years, higher educational level, absence of comorbidities, and the CC variant rs471692 (TOP2A). Significant decline was found between M0 to M1 in the Rey Auditory Verbal Learning Test and the Letter and Number test, with evidence of recovery in M2 compared to M0 regarding the following test: Visual Memory, Functioning Assessment Short Test (FAST), Digit Symbol Substitution and Cube. In the multivariate analysis, being ≥55 years of age, adjuvant chemotherapy, presence of comorbidities, tobacco and alcohol use, and GT variant rs1800795 were associated with cognitive decline between M0 and M1. Conclusion: Being ≥55 years of age, female, presence of comorbidities and basic education level are related to a higher risk of cognitive impairment after chemotherapy.

RESUMEN Fundamento: Nuestro estudio se plantea con el objetivo de evaluar el impacto de diferentes factores individuales sobre el deterioro cognitivo relacionado con el cáncer en pacientes tratados con quimioterapia. Material y métodos: Estudio unicéntrico longitudinal prospectivo. Incluyó pacientes con carcinoma de mama y colon tratados con quimioterapia. Se recogieron variables clínicas y genéticas del paciente (polimorfismos de nucleótido simple, SNP). Los pacientes fueron evaluados neurocognitivamente con once test validados, en tres momentos: basal previo a quimioterapia (M0), entre una y cuatro semanas tras finalizar quimioterapia (M1) y entre 24-30 semanas tras finalizar quimioterapia (M2). Resultados: Se incluyeron 62 pacientes, 82% mujeres, con mediana de edad de 56 años (rango 30-74), un 64,5% con cáncer de mama. La edad <55 años, tener estudios superiores, ausencia de comorbilidades y presencia de la variante CC de rs471692 (TOP2A) se asociaron, en general, con mejores resultados cognitivos en M0. Se observó un empeoramiento significativo de M0 a M1 en los test RAVLT y Letras y números, y recuperación en M2 respecto a M0 en los test de memoria visual, FAST, clave de números, y cubos. La edad ≥55 años, la quimioterapia adyuvante, las comorbilidades, el consumo de tabaco y de alcohol y la variante GT de rs1800795 se relacionaron con el deterioro entre M0 y M1 en el modelo multivariante. Conclusiones: La edad mayor de 55 años, el sexo femenino, la presencia de comorbilidades y el nivel básico de estudios se relacionan con un mayor riesgo de deterioro cognitivo tras el tratamiento con quimioterapia.

Resumen: El polimorfismo R577X del gen ACTN3 determina la expresión de la proteína alfa-actinina 3 en la musculatura humana. El genotipo homocigoto XX no logra sintetizar alfa-actinina 3 y se asocia a una menor fuerza muscular que el genotipo RR. Las enfermedades neuromusculares (ENM) generan pérdida acelerada de fuerza muscular, y su relación con el gen ACTN3 no ha sido establecida. Objetivo: Describir las variables de fuerza, resistencia muscular respiratoria y función pulmonar en pacientes con ENM que presentan el polimorfismo R577X del gen ACTN3. Pacientes y Método: Estudio observational descriptivo. Fueron evaluados 6 sujetos entre 10 y 14 años, con diagnóstico de ENM atendidos en el Hospital Dr. Exequiel González Cortés, Santiago, Chile. Fueron genotipificados con el polimorfismo R577X de ACTN3 mediante reacción en cadena de la polimerasa (PCR). La medición de función pulmonar se realizó con espirometría. La fuerza muscular se evaluó con Presión inspiratoria máxima (PIMax), Presión espiratoria máxima (PEMax) y Fuerza prensil manual (FPM). La resistencia muscular respiratoria fue evaluada mediante tiempo límite (TLim). Resultados: La mediana y percentil 25-75 [Med(p25-p75)] del porcentajes de límite inferior (%Li) para FPM, PIMax y PEMax fue: 36,01 (16,88-53,30)%, 68,88 (41,07-89,59)% y 38,74 (27,74-56,90)% respectivamente. La Med(p25-p75) de TLim fue 299,0 (113,3-356,3) segundos. La genotipificación del polimorfismo R577X de ACTN3: en 2 sujetos fue XX, en 2 RX y en 2 RR. Conclusiones: Los sujetos presentaron alteraciones espirométricas ventilatorias restrictivas y disminución de la fuerza muscular al contrastarlo con los valores de referencia. No se pudo establecer relación con el polimorfismo del gen ACTN3.

Abstract: The ACTN3 R577X polymorphism determines the expression of alpha-actinin 3 protein in human muscle. The homozygous XX genotype fails to synthesize alpha-actinin 3 and is associated with lower muscle strength than the RR genotype. Neuromuscular diseases (NMD) generate an accelerated loss of muscle strength, and their relationship with the ACTN3 gene has not been established. Objective: To describe the variables of strength, respiratory muscle endurance, and lung function in patients with NMD who present the ACTN3 R577X polymorphism. Patients and Method: Descriptive observational study. Six subjects between 10 and 14 years old, with a diagnosis of NMD, treated at the Hospital Dr. Exequiel González Cortés in Santiago, Chile, were evaluated. They were genotyped with the ACTN3 R577X polymorphism by polymerase chain reaction (PCR). Lung function was measured by spirometry. Muscle strength was evaluated with maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), and grip strength (GS). Respiratory muscle endurance was evaluated by time limit (TLim). Results: The median and 25-75th percentile [Med(p25-p75)] of the lower limit percentages (%Li) for GS, MIP, and MEP were: 36.01% (16.88-53.3o), 68.88% (41.07-89.59), and 38.74% (27.74-56.90), respectively. The Med(p25-p75) of TLim was 299.0 (113.3-356.3) seconds. Regarding the genotyping of the ACTN3 R577X polymorphism, in 2 subjects it was XX, in 2 RX, and in 2 RR. Conclusions: The subjects presented restrictive ventilatory spirometric alterations and decreased muscle strength when compared with the reference values. No relationship could be established with the ACTN3 gene polymorphism.

RESUMEN Uno de los mayores desafíos que enfrenta la humanidad es el desarrollo de estrategias sostenibles para asegurar la disponibilidad de alimentos en respuesta al crecimiento de la población y el cambio climático. Un enfoque que puede contribuir a aumentar la seguridad alimentaria es cerrar las brechas de rendimiento y mejorar la ganancia genética; para tal fin, lo que se conoce como “mejoramiento molecular” juega un papel fundamental. Dado que un programa de mejoramiento de cultivos se basa principalmente en la calidad del germoplasma, su caracterización genética detallada es fundamental para garantizar el uso eficiente de los recursos genéticos y acelerar el desarrollo de variedades superiores. La genotipificación profunda es una herramienta esencial para una caracterización integral del germoplasma de interés y, afortunadamente, en la actualidad se puede acceder a la tecnología a un costo razonable. Lo que debe asegurarse es la interpretación correcta de la información genotípica y sobre esa base desarrollar estrategias eficientes y prácticas de mejoramiento molecular de cultivos que respondan a las necesidades reales del programa de mejoramiento.

ABSTRACT One of the greatest challenges facing humanity is the development of sustainable strategies to ensure food availability in response to population growth and climate change. One approach that can contribute to increase food security is to close yield gaps and enhancing genetic gain; to such end, what is known as “molecular breeding” plays a fundamental role. Since a crop breeding program is mainly based on the quality of the germplasm, its detailed genetic characterization is mandatory to ensure the efficient use of genetic resources and accelerating development of superior varieties. Deep genotyping is an essential tool for a comprehensive characterization of the germplasm of interest and, fortunately, the technology is now accessible at a reasonable cost. What must be ensured is the correct interpretation of the genotypic information and on that basis develop efficient practical molecular crop breeding strategies that respond to the real needs of the breeding program.

ABSTRACT Introduction. Chemotherapy-associated executive dysfunction is an adverse effect of conventional antineoplastic treatment that affects many patients. It has been reported that the presence of specific polymorphisms in key genes can cause a greater susceptibility to develop this condition. Objective. To determine the relationship between the Val66Met polymorphism (196 G>A) of the BDNF gene and the development of executive dysfunction in female patients with breast cancer treated with chemotherapy. Methods. 73 female breast cancer patients were evaluated for executive dysfunction before and after chemotherapy. The evaluation was carried out with the INECO Frontal Screening test (IFS). The genotype (GG=Val/Val, GA=Val/Met and AA=Met/Met) was determined by PCR and sequencing of BDNF gene. Association analysis was performed by calculating the Odds Ratio (OR) and by quantitative comparison. Results. 13.7% (n = 10) of the sample presented the allele A (GA and AA), which obtained significantly lower scores in the IFS test compared to the homozygous GG (p < 0.05). Patients grouped according to the presence of the A allele (GA/AA vs GG) and compared with the presence or absence of executive dysfunction, did not show significant differences (OR = 1.86; IC 95%: 0.49 to 7.14; p = 0.483). Conclusions. No significant association was found between the Val66Met (196G>A) polymorphism of the BDNF gene and the development of executive dysfunction in patients with breast cancer treated with chemotherapy. However, patients with the allele A (Met) presented significant lower scores in the cognitive assessment.

RESUMEN Introducción. La disfunción ejecutiva asociada a quimioterapia es un efecto adverso del tratamiento antineoplásico convencional y afecta a un porcentaje considerable de personas. Se ha reportado que la presencia de ciertos polimorfismos en genes relevantes puede causar mayor susceptibilidad a padecerlo. Objetivo. Determinar la relación entre el polimorfismo Val66Met (196 G>A) del gen BDNF y el desarrollo de disfunción ejecutiva en mujeres con cáncer de mama tratadas con quimioterapia. Métodos. Se evaluaron a 73 pacientes mujeres con cáncer de mama para determinar disfunción ejecutiva antes y después de la quimioterapia. La evaluación fue realizada con la prueba INECO Frontal Screening (IFS). Se determinó el genotipo (GG=Val/Val, GA=Val/Met y AA=Met/Met) por PCR y secuenciamiento del gen BDNF. El análisis de asociación se realizó mediante el cálculo del odds ratio (OR). Resultados. El 13,7% (n = 10) de pacientes presentó el alelo A (GA y AA), además obtuvieron puntajes significativamente menores de la prueba IFS comparado con las homocigotas GG (p < 0,05). Las pacientes agrupadas según la presencia del alelo A (GA/AA vs GG) y comparadas según presencia o ausencia de la disfunción ejecutiva, no mostraron diferencias significativas (OR = 1,86; IC 95%: 0,49 a 7,14; p = 0,483). Conclusiones. No se encontró asociación significativa entre el polimorfismo Val66Met (196G>A) del gen BDNF y el desarrollo de disfunción ejecutiva en pacientes con cáncer de mama tratadas con quimioterapia; sin embargo, las portadoras del alelo A (Met) presentaron puntajes menores en la evaluación cognitiva.