RESUMEN
The development of new cultivars is a strategy used in breeding programs to increase food production with environmental sustainability. The genotype × environment interaction is a great challenge in the identification and selection of superior genotypes for different edaphoclimatic conditions. Due to this interaction, it is essential to select and develop materials that can provide not only high productivity but also wide adaptability and production stability. Given the above, this work aims to select bean pre-cultivars regarding grain productivity, adaptability and stability for the State of Rio de Janeiro. In the 2018 harvest, two inbred lines competition trials were carried out and three in the 2019 harvest. Eleven black bean genotypes were evaluated in five environments, and the experiments were set up in a randomized block design with three replications. The adaptability and genotypic stability were assessed via the GGE Biplot, Eberhart and Russell and Lin and Binns methodologies, with the aid of the GENES and R software systems. The methodologies based on simple linear regression and non-parametric statistical analysis were concordant in the identification of genotypes with production stability (BRS Esteio, BRS FP 403 and CNFP 16459), responsive to environmental improvement (BRS Esteio) and adapted to unfavorable environments (BRS Esteio). Furthermore, BRS Esteio was classified as the ideotype and presented the best adaptability, high stability and performance above the general average. Thus, the adaptability and stability analysis methodologies proved to be effective and consistent in identifying superior genotypes.
Asunto(s)
Genotipo , Phaseolus , Fitomejoramiento , Phaseolus/genética , Phaseolus/clasificación , Brasil , Interacción Gen-Ambiente , Adaptación Fisiológica/genéticaRESUMEN
The objective of this study was to evaluate the proportion of genetic variance explained by single nucleotide polymorphism markers, individually or clustered in 1, 2, and 5 Mb windows, for milk yield, fat yield, protein yield, fat content, protein content, and somatic cell score in Mexican Holstein cattle. The analysis included data from 640,746 lactation records of 358,857 cows born between 1979 and 2019, distributed in 353 herds in 18 states of Mexico. The analysis included genotypic data on 7,713 cows and 577 sires, with information on 88,911 markers previously imputed and filtered by quality control. Genomic scans via the single-step genomic best linear unbiased prediction method were performed using BLUPF90 software. A total of 162 markers were significantly associated (p<0.01) with the phenotypic traits evaluated, and the SNP markers were distributed across chromosomes 1, 3, 5, 6, 10, 12, 14, 16, 18, 20, 22, and 29. When the size of the genomic windows was increased from 1 to 5 Mb, a greater proportion of genetic variance was explained by the SNPs within the window, and a greater number of windows explained more than 1% of the genetic variance. The most significant regions were associated with two or more phenotypic traits, such as one region on chromosome 14 that harbors the DGAT1, EXOSC4, PPP1R16A, and FOXH1 genes, which affect all the traits under study. In general, the utilization of genomic windows resulted in a greater proportion of genetic variance explained by milk production traits.
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Lactancia , Leche , Polimorfismo de Nucleótido Simple , Animales , Bovinos/genética , Leche/metabolismo , México , Femenino , Lactancia/genética , Marcadores Genéticos , Fenotipo , Sitios de Carácter Cuantitativo , Genómica/métodos , Estudio de Asociación del Genoma Completo , Genotipo , MasculinoRESUMEN
The crisis of bacterial resistance is an emerging One Health challenge, driven by the overuse of antimicrobials in medical and agricultural settings. This study aimed to investigate extended-spectrum ß-lactamase (ESBL), Ampicillinase (AmpC), and carbapenemase production, and the presence of genes encoding these enzymes in Escherichia coli, Klebsiella spp., and Proteus spp., major contributors to infections and resistance isolates from animals. From 2016 to 2021, 130 multidrug-resistant (MDR) or extensively drug-resistant (XDR) isolates were recovered from the secretions, excretions, and organs of companion and production animals with active infections. Antibacterial sensitivity tests, along with phenotypic and genotypic detection of resistance enzymes, were performed. To the best of our knowledge, this is the first study in Brazil to estimate the prevalence of XDR Enterobacteriales isolated from companion and production animals, which accounted for 13.8% of the strains. Statistically significant differences (P < 0.05) in resistant bacteria between different classes and within the same class of antibacterial bacteria were found. The statistical probability between genotypic detection of ESBL (OR = 3.1) and phenotypic tests for AmpC (OR = 2.3) was also established. Approximately 32.3%, 17.6%, and 16.8% of the strains had positive phenotypic tests for ESBL, AmpC, and carbapenemases, respectively. Genetic analysis revealed the presence of blaCTX-M (60.0%), blaAmpC (9.18%), blaKPC-2 (0.76%), and blaNDM (1.52%). AmpC genes were identified in 8.46% of the samples, with blaCMY being the most frequent (6.92%), followed by blaDHA (0.77%), and blaFOX (0.77%). The sequenced amplicons were deposited in NCBI. This study reveals critical data on Enterobacteriaceae with antibacterial resistance genes isolated from animals and may pose a significant threat to One health.
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Antibacterianos , Proteínas Bacterianas , Infecciones por Enterobacteriaceae , Enterobacteriaceae , Pruebas de Sensibilidad Microbiana , beta-Lactamasas , beta-Lactamasas/genética , beta-Lactamasas/metabolismo , Animales , Brasil , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Antibacterianos/farmacología , Infecciones por Enterobacteriaceae/microbiología , Infecciones por Enterobacteriaceae/veterinaria , Enterobacteriaceae/genética , Enterobacteriaceae/efectos de los fármacos , Enterobacteriaceae/enzimología , Enterobacteriaceae/aislamiento & purificación , Plásmidos/genética , Farmacorresistencia Bacteriana Múltiple/genética , Mascotas/microbiología , Fenotipo , Genotipo , Enterobacteriaceae Resistentes a los Carbapenémicos/genética , Enterobacteriaceae Resistentes a los Carbapenémicos/aislamiento & purificación , Enterobacteriaceae Resistentes a los Carbapenémicos/efectos de los fármacos , Enterobacteriaceae Resistentes a los Carbapenémicos/enzimologíaRESUMEN
This study aims to report a case of sexual ambiguity in a 3-yr mongrel dog and its respective etiological approach. There was a complaint of trauma and pinpoint bleeding in a chronical exposed structure, which examination indicated to be penis-like with perineoscrotal insertion and ventral hypospadia, surrounded by skin folds that resembled vulvar labia majora or hypoplastic prepuce. No evident scrotum and testicles were noted. Abdominal ultrasonography revealed ectopic testicles and an undefined structure filled with high-cellularity content in close contact with the prostate dorsal wall. The dog underwent exploratory laparotomy, revealing structures morphologically compatible with testicles and epididymides, connected by a tubular structure macroscopically resembling uterine horns, which was subjected to histopathological analysis and genotyping. For the external genitalia, penectomy was performed, followed by lateral mucosa reinsertion of the urethra, remaining a skin extension with vulvar-lips appearance. Histopathological examination revealed testicular hypoplasia and bilateral epididymal dysplasia and confirmed that the tubular structure was indeed an excessive distended epididymal duct. Blood sample was collected for cytogenetic analysis, which revealed variations in the diploid number (2n = 78, XY) due to addition (2n = 79) or absence of acrocentric autosomal chromosomes (2n < 78). Sex genotyping confirmed a male sex (XY). In conclusion, this clinical case demonstrated a XY disorder of sexual development (male pseudohermaphroditism) due to phenotypic sex ambiguity (ambiguous external genitalia), yet with a non-function degenerated testes and hypertrophic dilation of the epididymides, suggesting a disorder of male hormonal biosynthesis.
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Enfermedades de los Perros , Genotipo , Cariotipificación , Animales , Perros , Masculino , Enfermedades de los Perros/patología , Enfermedades de los Perros/genética , Cariotipificación/veterinaria , Trastornos del Desarrollo Sexual/veterinaria , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/patología , Testículo/patologíaRESUMEN
BACKGROUND: Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations. METHODS: Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study. DA was evaluated by calibrated examiners (kappa > 0.80) using the method proposed by Demirjian et al. (1973). Genomic DNA was extracted from buccal cells, and SNPs in Epidermal Growth Factor (EGF) - rs4444903 and rs2237051, Epidermal Growth Factor Receptor (EGFR) - rs2227983 -, Transforming Growth Factor Beta 1 (TGFB1) - rs1800470 and rs4803455 -, and Transforming Growth Factor Beta Receptor 2 (TGFBR2) - rs3087465 - were genotyped by real-time polymerase chain reactions using the TaqMan assay. The Student T-test was used to compare the variations in DA between the phenotypes "with CL ± P" and "without CL ± P", and the ANOVA two-way test was performed to compare the variations in DA among the genotypes (α = 0.05). A post-hoc analysis was performed using Bonferroni correction. RESULTS: Two hundred and nine (n = 209) children (100 with CL ± P and 109 without CL ± P) with a mean chronological age of 8.66 years - standard deviation (SD) = 1.92 - were included. The group with CL ± P demonstrated a significantly delayed DA (mean=-0.23; SD = 0.71) compared to the group without CL ± P (mean=-0.01; SD = 0.88) (p = 0.049). Genotype distributions were in Hardy-Weinberg equilibrium. The SNP rs4803455 in TGFB1 was significantly associated with DA variations in children without CL ± P (p < 0.01). In the group with CL ± P, no significant differences in DA were observed among the genotypes. CONCLUSION: Children with CL ± P presented delayed DA compared with children without CL ± P. The SNP rs4803455 in TGFB1 is associated with variations in DA in children without CL ± P.
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Labio Leporino , Fisura del Paladar , Polimorfismo de Nucleótido Simple , Humanos , Labio Leporino/genética , Estudios Transversales , Niño , Fisura del Paladar/genética , Femenino , Masculino , Preescolar , Adolescente , Factor de Crecimiento Transformador beta1/genética , Receptor Tipo II de Factor de Crecimiento Transformador beta/genética , Genotipo , Receptores ErbB/genéticaRESUMEN
Trypanosoma cruzi, the etiological agent of Chagas disease, is a parasite known for its diverse genotypic variants, or Discrete Typing Units (DTUs), which have been associated with varying degrees of tissue involvement. However, aspects such as parasite attachment remain unclear. It has been suggested that the TcI genotype is associated with cardiac infection, the most common involved site in chronic human infection, while TcII is associated with digestive tract involvement. Traditional models for T. cruzi infection provide limited in vivo observation, making it challenging to observe the dynamics of parasite-host interactions. This study evaluates the cardiac attachment of trypomastigotes from TcI and TcII DTUs in zebrafish larvae. Labeled trypomastigotes were injected in the duct of Cuvier of zebrafish larvae and tracked by stereomicroscopy and light-sheet fluorescence microscopy (LSFM). Remarkably, it was possible to observe TcI parasites adhered to the atrium, atrioventricular valve, and circulatory system, while TcII trypomastigotes demonstrated adhesion to the atrium, atrioventricular valve, and yolk sac extension. When TcI and TcII were simultaneously injected, they both attached to the heart; however, more of the TcII trypomastigotes were observed attached to this organ. Although TcII DTU has previously been associated with digestive tissue infection, both parasite variants showed cardiac tissue attachment in this in vivo model.
Asunto(s)
Enfermedad de Chagas , Modelos Animales de Enfermedad , Trypanosoma cruzi , Pez Cebra , Animales , Pez Cebra/parasitología , Trypanosoma cruzi/genética , Enfermedad de Chagas/parasitología , Corazón/parasitología , Corazón/diagnóstico por imagen , Interacciones Huésped-Parásitos , Larva , Genotipo , Microscopía Fluorescente , HumanosRESUMEN
Acute gastroenteritis (AG) is a major illness in early childhood. Recent studies suggest a potential association between human bocavirus (HBoV) and AG. HBoV, a non-enveloped virus with a single-strand DNA genome, belongs to the Parvoviridae family. This study aimed to describe the frequency of HBoV in Northern Brazil using samples from patients with AG collected between 2017 and 2022. Fecal samples obtained from the viral gastroenteritis surveillance network at the Evandro Chagas Institute (IEC) were analyzed. Fecal suspensions (20%) were prepared, and the viral genome was extracted. PCR and nested-PCR were employed to detect HBoV, followed by nucleotide sequencing to identify viral types. Out of 692 samples, HBoV positivity was detected in 9.2% of cases (64/692). Genotypes HBoV-1, HBoV-2, HBoV-3, and HBoV-4 were found in 42.5% (17/40), 22.5% (9/40), 32.5% (13/40), and 2.5% (1/40) of the specimens, respectively. Co-infections with HBoV and other enteric viruses occurred in 48.3% (31/64) of cases, with RVA being the most frequent (31.2%, 20/64). The study results underscore the importance of continuous monitoring and further research to better understand the seasonality, coinfection patterns, and genetic variability of HBoV.
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Heces , Gastroenteritis , Genotipo , Bocavirus Humano , Epidemiología Molecular , Infecciones por Parvoviridae , Filogenia , Humanos , Gastroenteritis/virología , Gastroenteritis/epidemiología , Brasil/epidemiología , Infecciones por Parvoviridae/epidemiología , Infecciones por Parvoviridae/virología , Bocavirus Humano/genética , Bocavirus Humano/aislamiento & purificación , Bocavirus Humano/clasificación , Femenino , Masculino , Preescolar , Prevalencia , Heces/virología , Lactante , Niño , Coinfección/virología , Coinfección/epidemiología , Adulto , Adolescente , Enfermedad Aguda/epidemiología , Persona de Mediana Edad , Adulto Joven , ADN Viral/genéticaRESUMEN
The apoptotic molecule Fas and its ligand FasL are involved in the process of T-lymphocyte death, which may lead to lymphopenia, a characteristic of severe coronavirus disease 2019 (COVID-19). In this study, we investigated the influence of polymorphisms in the FAS and FASL genes, FAS and FASL gene expression, and plasma cytokine levels on COVID-19 severity and long COVID occurrence. A total of 116 individuals with severe COVID-19 and 254 with the non-severe form of the disease were evaluated. In the post-COVID-19 period, samples from 196 individuals with long COVID and 67 from people who did not have long COVID were included. Genotyping and quantification of gene expression were performed via real-time PCR, and cytokine measurement was performed via flow cytometry. The AA genotype for FAS rs1800682 (A/G) and the TT genotype for FASL rs763110 (C/T) were associated with increased FAS and FASL gene expression, respectively (p < 0.005). Higher plasma IFN-γ levels were associated with higher FAS and FASL gene expression (p < 0.05). Among individuals with non-severe COVID-19, carriers of the AA genotype for FAS rs1800682 (A/G) had higher levels of FAS expression, more symptoms, and higher IFN-γ levels (p < 0.05). No association of the evaluated markers with long COVID were observed. The AA genotype of FAS rs1800682 (A/G) and the TT genotype of FASL rs763110 (C/T) influence the levels of FAS and FASL gene expression. Higher gene expression of FAS and FASL may lead to greater inflammation in COVID-19 patients, with higher levels of IFN-γ and T lymphocyte death.
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COVID-19 , Proteína Ligando Fas , SARS-CoV-2 , Receptor fas , Humanos , COVID-19/genética , COVID-19/sangre , COVID-19/virología , Proteína Ligando Fas/genética , Receptor fas/genética , Masculino , Femenino , Persona de Mediana Edad , Anciano , Polimorfismo de Nucleótido Simple , Genotipo , Adulto , Interferón gamma/genética , Interferón gamma/sangre , Índice de Severidad de la EnfermedadRESUMEN
Soybean [Glycine max (L.) Merrill] is one of the most widely grown legumes in the world, with Brazil being its largest producer and exporter. Breeding programs in Brazil have resulted from multiple cycles of selection and recombination starting from a small number of USA cultivar ancestors in the 1950s and 1960s years. This process has led to the successful adaptation of this crop to tropical conditions, a phenomenon known as tropicalization. Many studies describe a narrow genetic background in Brazilian soybean cultivars. Various factors can affect the genetic diversity in species, especially in cultivated crops, such as the reproduction type, artificial selection, and the number and sources of variability in the breeding programs. In turns, the genetic diversity can affect the linkage disequilibrium blocks (LD) patterns and, consequently, molecular breeding strategies for selection of target loci for agronomic traits. We used high-throughput genotyping with SoySNP50K Illumina SNP markers to assess a collection of 370 Brazilian soybean accessions covering more than 60 years of soybean breeding in Brazil. Our goal was to investigate population structure and genetic diversity in the Brazilian germplasm, detect patterns of LD blocks, and identify regions presenting signals of selective swaps linked with quantitative trait loci (QTLs) of agronomic interest. Population structure analysis revealed two major groups among all genotypes, primarily differentiated by the year of release, separating old and new cultivars (before and after 2000´s years), and by growth habit (stem termination type-SST). The group I comprises about 75% of the panel and includes cultivars release before 2000`s years, including the oldest cultivars released in Brazil, most of which exhibit a determinate growth habit and maturity groups VI and VII. Group II includes only 83 materials, but shows higher levels of diversity than group I, representing most recent introductions in Brazilian germplasm. Further analysis of substructure within Group I, identified seven subgroups with no clear trend for segregation based on maturity group, STT or year of release. Instead, these subgroups were based on the contribution of key donors of disease resistance and adaptability, as soybean cultivation expanded from the South to Central region of Brazil. This finding is consistent with the history of soybean expansion in Brazil. We identified 123 genomic regions under selection among the groups of Brazilian cultivars associated with 440 quantitative trait loci (QTLs), revealing regions fixed across the breeding process associated with yield, disease resistance, water efficiency use, and others.
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Variación Genética , Glycine max , Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Glycine max/genética , Glycine max/crecimiento & desarrollo , Brasil , Fitomejoramiento , Genotipo , Genética de PoblaciónRESUMEN
Sea turtles are highly migratory and predominantly inhabit oceanic environments, which poses significant challenges to the study of their life cycles. Research has traditionally focused on nesting females, utilizing nest counts and mark-recapture methods, while male behavior remains understudied. To address this gap, previous studies have analyzed the genotypes of females and hatchlings to indirectly infer male genotypes and evaluate the extent of multiple paternity within populations. Our research aimed to investigate the presence of multiple paternity in loggerhead turtle (Caretta caretta) nests for the first time in Brazil. We analyzed 534 hatchlings from 43 nests associated with 42 females during the 2017/18 to 2019/20 nesting seasons, using four highly polymorphic, species-specific microsatellite markers (nDNA). Parentage tests were conducted to reconstruct paternal genotypes and determine the rates of multiple paternity within clutches. Our results revealed that 72.09% of clutches were sired by multiple males, with contributions ranging from one to six males per clutch. Additionally, seven out of 88 males (7.95%) were found to have sired clutches from multiple females, with some males contributing to more than one clutch within and across breeding seasons. The breeding sex ratio (BSR) was calculated to be 2.09 males per female. While multiple paternity is a common phenomenon among sea turtles, this study is the first to document polyandry in loggerheads in Brazil and the first to provide evidence of polygyny in this species globally. This research establishes a crucial database for future studies in Brazil, with a focus on the BSR of the Southwest Atlantic subpopulation, offering essential insights for developing effective management strategies for this vulnerable population.
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Repeticiones de Microsatélite , Reproducción , Conducta Sexual Animal , Tortugas , Animales , Tortugas/fisiología , Tortugas/genética , Masculino , Femenino , Brasil , Conducta Sexual Animal/fisiología , Repeticiones de Microsatélite/genética , Reproducción/fisiología , Reproducción/genética , Genotipo , Océano AtlánticoRESUMEN
The bovine leukemia virus (BLV) is a pathogen of high importance for the dairy industry. Currently, twelve genotypes have been described worldwide with different pathogenicity and virulence, so it is critical to evaluate the circulating genotypes in each country/region to associate this information with risk situations. The aim of this work was to perform a phylogenetic and mutational analysis of the BLV tax gene in cows that belong to specialized dairies in the Department of Antioquia, Colombia. A conventional PCR for the tax gene was performed on 86 bovine samples. Sanger sequencing was carried out on 22 PCR products with a size of 959 bp. The sequences obtained were aligned and analyzed using the Maximum Likelihood and Bayesian phylogenetic approaches. A predictor was used to analyze the possible impact of amino acid substitution on the Tax structure and function. Although all sequences were found to belong to genotype 1, four of the 22 sequences were grouped into a different subclade G1A. Fifty percent of the samples showed punctual mutations in their amino acids. Mutation S104L was identified as "possibly harmful," while the V146A change found in all subclade G1A samples was identified as "possibly benign." Although further studies are necessary to determine whether there is an effect of these mutations on the development of the disease, this study presents part of the evolution of the virus and the changes at the amino acid level that are occurring in cattle from specialized dairy farms in Antioquia.
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Industria Lechera , Virus de la Leucemia Bovina , Filogenia , Colombia , Animales , Virus de la Leucemia Bovina/genética , Bovinos , Análisis Mutacional de ADN/veterinaria , Leucosis Bovina Enzoótica/virología , Femenino , Genotipo , Productos del Gen tax/genética , MutaciónRESUMEN
Phenolic compounds (PC) were analyzed by UHPLC-ESI-QTOF-MSE in two sorghum genotypes, harvested in two growing seasons (GS) at five distinct days after flowering (DAF) to evaluate how genotype/GS influences the PC synthesis and antioxidant capacity during grain growth. Total phenolic contents were strongly correlated with antioxidant capacity (r > 0.9, p < 0.05). Globally, 97 PC were annotated, including 20 PC found irrespective of the grain developmental stage and genotype/GS. The phenolic profile clearly differs between stages: phenolic acids were the most abundant class in early stages (50%), and flavonoid accumulation becomes predominant in late ones (3/5 of total ion abundance). Dimeric and trimeric tannins were identified even in 10DAF grains. Chemometry revealed great PC variability between genotypes (27%) and important biomarkers of GS differentiation (e.g., ferulic acid). This work can input open databases of PC and paves the way to understand biosynthetic pathways of PC in sorghum and future sorghum selection.
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Antioxidantes , Metabolómica , Fenoles , Sorghum , Sorghum/metabolismo , Sorghum/crecimiento & desarrollo , Sorghum/química , Sorghum/genética , Antioxidantes/metabolismo , Antioxidantes/química , Fenoles/metabolismo , Fenoles/química , Cromatografía Líquida de Alta Presión , Semillas/crecimiento & desarrollo , Semillas/química , Semillas/metabolismo , Semillas/genética , Extractos Vegetales/química , Extractos Vegetales/metabolismo , Genotipo , Flavonoides/metabolismo , Flavonoides/químicaRESUMEN
BACKGROUND: Globally, cervical cancer is an increasing public health issue, and vaccination against HPV has proven to be an effective strategy to reduce this neoplasia. The purpose of this study was to assess the effectiveness of the quadrivalent vaccine in reducing the prevalence and incidence of HPV infection in women, aged 18 to 24 years old, in the cities of Ouro Preto and Mariana, Minas Gerais, Brazil. METHODS: A concurrent cohort study was performed, with an initial follow-up of 12 to 18 months. The selected young women were interviewed and divided into two groups: vaccinated and unvaccinated. Participants underwent a Pap smear and cervical sample collection for HPV detection, genotyping performed by PCR-RFLP, type-specific PCR, and using the PapilloCheck®. The prevalence of HPV infection was analyzed using the compare proportions test. Poisson and Cox multivariate regression models were used to estimate vaccine effectiveness. RESULTS: There was no significant difference in the overall prevalence of HPV infection between vaccinated and unvaccinated groups (23.6% vs. 18.7%; p = 0.364). However, the prevalence of infection by HPV 6/11, 16 and 18 types in vaccinated young women (1.1%) was lower than in unvaccinated ones (7.5%; p = 0.030). Regarding non-vaccine types, a higher prevalence was identified among vaccinated women (22.5% vs. 11.2%; p = 0.018). The overall incidence of HPV infection was 15.75/100 young women/year in non-immunized women compared to 9.12/100 young women/year among those immunized. The effectiveness of the vaccine was 64.0%, regardless of the viral type, and no vaccinated woman was detected with the specific vaccine HPV-type in follow-up. HPV33/45, related to cross-protection, were detected in 12.3% of vaccinated women and 1.2% of unvaccinated ones (p < 0.001) at baseline. These viral types were identified at follow-up in 2.03/100 young women/year of vaccinated participants and 4.24/100 young women/year of unvaccinated ones. CONCLUSIONS: The results showed that the quadrivalent HPV vaccine was effective in reducing the prevalence of vaccine-type HPV and the incidence of infection by any HPV type. Public health policies must encourage vaccination to prevent HPV infection. However, surveillance of HPV infection should be continued to assess the prevalence of different genotypes and the impact of the vaccination program.
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Infecciones por Papillomavirus , Vacunas contra Papillomavirus , Humanos , Femenino , Infecciones por Papillomavirus/prevención & control , Infecciones por Papillomavirus/epidemiología , Infecciones por Papillomavirus/virología , Brasil/epidemiología , Adulto Joven , Adolescente , Prevalencia , Vacunas contra Papillomavirus/administración & dosificación , Vacunas contra Papillomavirus/inmunología , Estudios de Cohortes , Vacunación/estadística & datos numéricos , Incidencia , Papillomaviridae/genética , Papillomaviridae/inmunología , Papillomaviridae/clasificación , Papillomaviridae/aislamiento & purificación , Genotipo , Eficacia de las Vacunas , Neoplasias del Cuello Uterino/prevención & control , Neoplasias del Cuello Uterino/virología , Neoplasias del Cuello Uterino/epidemiología , AdultoRESUMEN
BACKGROUND: Nonenveloped viruses, such as hepatitis A virus (HAV) and parvovirus B19 (B19V), are not inactivated by detergents and solvents commonly used to manufacture plasma derivatives. Cases of transfusion-transmitted HAV and B19V have already been described in several countries. This study aimed to determine the incidence of HAV and B19V asymptomatic infections in blood donors from Rio de Janeiro and evaluate the residual risk of transmission to blood derivative recipients. METHODS: From 2018 to 2019, 1,204 plasma samples were tested by PCR and real-time PCR. HAV and B19V genotypes were determined through sequencing and phylogenetic analysis. The risk of transfusion transmission was determined using a Bayesian statistical approach. RESULTS: HAV-RNA and B19V-DNA were detected in 1.66 (95% CI 0.26-5.48) and 3.32 (95% CI 1.00-7.81) per 1000 donors, respectively. For HAV, all positive samples were classified as subgenotype IB. For B19V, the sequenced samples belonged to genotype 1A. The estimated numbers of infectious blood bags with HAV and B19V were 587 (95% CI 92-1936) and 880 (95% CI 355-2759), respectively. CONCLUSION: This study originally assessed the incidence of both Hepatitis A Virus (HAV) and B19 Virus (B19V) among Brazilian blood donors, as well as the potential risk of residual transmission of these infections through blood transfusions. Our findings can contribute to future cost-effective studies aimed at implementing screening methods for these viruses, which could enhance discussion on surveillance in blood banks and protective measures for blood recipients.
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Donantes de Sangre , Genotipo , Virus de la Hepatitis A , Hepatitis A , Parvovirus B19 Humano , Filogenia , Humanos , Brasil/epidemiología , Parvovirus B19 Humano/genética , Parvovirus B19 Humano/aislamiento & purificación , Parvovirus B19 Humano/clasificación , Incidencia , Estudios Retrospectivos , Donantes de Sangre/estadística & datos numéricos , Adulto , Hepatitis A/epidemiología , Hepatitis A/transmisión , Hepatitis A/virología , Femenino , Masculino , Virus de la Hepatitis A/genética , Virus de la Hepatitis A/aislamiento & purificación , Virus de la Hepatitis A/clasificación , Adulto Joven , Persona de Mediana Edad , Reacción a la Transfusión/virología , Reacción a la Transfusión/epidemiología , Infecciones por Parvoviridae/epidemiología , Infecciones por Parvoviridae/transmisión , Infecciones por Parvoviridae/virología , Transfusión Sanguínea , Adolescente , ADN Viral/sangre , ADN Viral/genéticaRESUMEN
Genetic competition can obscure the true merit of selection candidates, potentially leading to altered genotype rankings and a divergence between expected and actual genetic gains. Despite a wealth of literature on genetic competition in plant and animal breeding, the separation of genetic values into direct genetic effects (DGE, related to a genotype's merit) and indirect genetic effects (IGE, related to the effects of a genotype's alleles on its neighbor's phenotype) in linear mixed models is often overlooked, likely due to the complexity involved. To address this, we introduce gencomp, a new R package designed to simplify the use of (spatial-) genetic competition models in crop and tree breeding routines. gencomp includes functions for constructing the genetic competition matrix, fitting (spatial-) genetic competition models via the variance-component approach, and extracting key results such as variance components, heritabilities, competition classes, and total genetic values. For tree breeding, gencomp also calculates the merit of different clonal mixtures using the estimated DGE and IGE of the selection candidates. In this paper, we first present the theoretical foundation of the methods implemented in the package. We then demonstrate the use of gencomp with two datasets: one simulated from a Eucalyptus spp. trial and a real potato dataset. We used both datasets to demonstrate the influence of genetic competition in variance component estimates, heritabilities and selection. Despite the dependency on ASReml-R, a paid resource, gencomp is a user-friendly tool that can popularize genetic competition models, contributing to more informed decision-making in plant breeding.
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Modelos Genéticos , Fitomejoramiento , Fitomejoramiento/métodos , Fenotipo , Genotipo , Programas Informáticos , Cruzamiento , Selección Genética , Eucalyptus/genética , Simulación por Computador , Solanum tuberosum/genéticaRESUMEN
OBJECTIVE: This study aims to examine whether the presence of mutation exists in the vitamin D-connector protein gene rs7041 variant of the pancreatitis table for patients diagnosed with coronavirus disease 2019. METHODS: A total of 113 patients with normal pancreatic enzyme levels diagnosed with coronavirus disease 2019 and 120 patients with both coronavirus disease 2019 diagnosis and high pancreatic enzyme levels were included in the study. The rs7041 genotyping of the 11th single nucleotide variation in the vitamin D-connector protein gene was determined by polymerase chain reaction and restriction fragment length polymorphism methods. RESULTS: In the patient group with coronavirus disease 2019 diagnosis and high pancreatic enzyme levels, the vitamin D-connector protein gene rs7041 variance GG genotype ratio was determined to be higher than the normal coronavirus disease 2019 patients. As a result of comparisons between the two groups, the difference between the genotype ratios in the relationship was determined to be statistically significant (p=0.004). CONCLUSION: Coronavirus disease 2019 patients were determined that the rs7041 halves in the vitamin D-connector protein gene could be prone to pancreatitis formation. Different populations and work with more patient groups are needed to verify the results of the study.
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COVID-19 , Genotipo , Pancreatitis , Polimorfismo de Nucleótido Simple , Humanos , COVID-19/genética , Femenino , Masculino , Persona de Mediana Edad , Adulto , Pancreatitis/genética , Predisposición Genética a la Enfermedad/genética , SARS-CoV-2/genética , Estudios de Casos y Controles , Reacción en Cadena de la Polimerasa , Anciano , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
Babesia species (Piroplasmida) are hemoparasites that infect erythrocytes of mammals and birds and are mainly transmitted by hard ticks (Acari: Ixodidae). These hemoparasites are known to be the second most common parasites infecting mammals, after trypanosomes, and some species may cause malaria-like disease in humans. Diagnosis and understanding of Babesia diversity increasingly rely on genetic data obtained through molecular techniques. Among hard ticks, several Ixodes species are known vectors of Babesia microti-like species in the Northern Hemisphere. Recently, Ixodes and Amblyomma ticks have been recorded parasitizing the Andean bear (Tremarctos ornatus) in Ecuador. Previous reports have suggested babesiosis in a fatal case of this threatened bear species in that country. This study aimed to detect Piroplasmida DNA in hard ticks collected from Andean bears at two sites in Ecuador. This species plays a critical role as an ecological engineer and a seed disperses, contributing significantly to the maintenance and health of Andean ecosystems. Twelve ticks screened with conventional PCR and Piroplasmida DNA was amplified from one Ixodes montoyanus tick collected from a free-living female Andean bear at Llanganates National Park. Two Babesia sequences were characterized: one for the 18 S ribosomal rRNA gene and another for the cytochrome c oxidase 1 gene. Phylogenetic analyses for both loci placed these sequences within the B. microti-like clade. This study reports a novel B. microti-like genotype identified in an I. montoyanus parasitizing a female Andean bear, contributing to the knowledge of the diversity of this group in South America. Given their conservation status, future epidemiological surveillance of Babesia and other tick-borne infectious agents in Andean bears is needed.
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Babesia microti , Genotipo , Ixodes , Filogenia , Ursidae , Animales , Ecuador , Ixodes/parasitología , Ursidae/parasitología , Babesia microti/aislamiento & purificación , Babesia microti/genética , Femenino , Infestaciones por Garrapatas/veterinaria , Infestaciones por Garrapatas/parasitología , Infestaciones por Garrapatas/epidemiología , ARN Ribosómico 18S/análisis , ARN Ribosómico 18S/genéticaRESUMEN
BACKGROUND: The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism (rs4340) is associated with the pathogenesis of heart failure (HF). This polymorphism may contribute to a greater propensity for severe HF and excess weight. OBJECTIVE: To evaluate adiposity, cardiac function, and their association with ACE I/D polymorphism in HF patients. METHODS: Cross-sectional study with ambulatory individuals ≥18 years diagnosed with HF. Genetic analysis was performed using polymerase chain reaction followed by agarose gel electrophoresis. Left ventricular ejection fraction (LVEF) was determined by echocardiography. Nutritional status was assessed using body mass index, while adiposity was analyzed using bioelectrical impedance analysis (BIA), waist circumference, waist-to-hip ratio, and waist-to-height ratio. The adopted significance level was 5% (p < 0.05). RESULTS: Seventy-one individuals were included, with a mean age of 55.8 ± 13.0 years, predominantly male (66.2%), with functional class I and II (90.9%), and a median LVEF of 30% (24-40). The prevalence of overweight was 38%, class I obesity was 23.9%, and class II and III obesity was 12.7%, with 50.7% exhibiting excess adiposity as assessed by BIA. A total of 88 D alleles and 54 I alleles of the ACE gene were identified. Regarding ACE genotypes, 38.1% were DD, 47.8% were ID, and 14.1% were II. In the multivariate analysis, the D allele (DD + ID genotypes versus II) was associated with LVEF (PR 0.995; 95% CI 0.991-1.000; p = 0.048) and with the etiology of HF (dilated cardiomyopathy: PR 1.283; 95% CI 1.039-1.583; p = 0.021). No independent association was found with adiposity. CONCLUSION: The presence of the D allele of the ACE polymorphism is associated with LVEF and HF etiology. Despite overweight being prevalent in the sample, no independent associations were found.
FUNDAMENTO: O polimorfismo de Inserção/Deleção (I/D) da enzima conversora de angiotensina (ECA) (rs4340) está associado à patogênese da insuficiência cardíaca (IC). Esse polimorfismo pode contribuir para uma maior propensão à IC grave e ao excesso de peso. OBJETIVO: Avaliar a adiposidade, a função cardíaca e sua associação com o polimorfismo I/D da ECA em pacientes com IC. MÉTODOS: Estudo transversal com indivíduos ambulatoriais com idade ≥18 anos diagnosticados com IC. A análise genética foi realizada por reação em cadeia da polimerase seguida de eletroforese em gel de agarose. A fração de ejeção do ventrículo esquerdo (FEVE) foi determinada por ecocardiografia. O estado nutricional foi avaliado pelo índice de massa corporal, enquanto a adiposidade foi avaliada pela análise de Bioimpedância elétrica (BIA), circunferência da cintura, razão cintura-quadril e razão cintura-estatura. O nível de significância adotado foi de 5% (p < 0,05). RESULTADOS: Setenta e um indivíduos foram incluídos, com média de idade de 55,8 ± 13,0 anos, predominantemente do sexo masculino (66,2%), com classe funcional I e II (90,9%) e FEVE mediana de 30% (24-40). A prevalência de sobrepeso foi de 38%, obesidade classe I foi de 23,9% e obesidade classe II e III foi de 12,7%, com 50,7% apresentando excesso de adiposidade conforme avaliado pela BIA. Um total de 88 alelos D e 54 alelos I do gene da ECA foram identificados. Em relação aos genótipos da ECA, 38,1% eram DD, 47,8% eram ID e 14,1% eram II. Na análise multivariada, o alelo D (genótipos DD+ID versus II) foi associado à FEVE (RP de 0,995; IC de 95% 0,9911,000; p = 0,048) e à etiologia da IC (cardiomiopatia dilatada: RP 1,283; IC de 95% 1,0391,583; p = 0,021). Nenhuma associação independente foi encontrada com a adiposidade. CONCLUSÃO: A presença do alelo D do polimorfismo da ECA está associada à FEVE e à etiologia da IC. Apesar da prevalência do sobrepeso na amostra, não foram encontradas associações independentes.
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Adiposidad , Insuficiencia Cardíaca , Peptidil-Dipeptidasa A , Polimorfismo Genético , Humanos , Masculino , Insuficiencia Cardíaca/genética , Insuficiencia Cardíaca/fisiopatología , Femenino , Peptidil-Dipeptidasa A/genética , Persona de Mediana Edad , Adiposidad/genética , Estudios Transversales , Polimorfismo Genético/genética , Anciano , Adulto , Índice de Masa Corporal , Volumen Sistólico/genética , Volumen Sistólico/fisiología , Obesidad/genética , Obesidad/complicaciones , Reacción en Cadena de la Polimerasa , Mutación INDEL/genética , Función Ventricular Izquierda/genética , Función Ventricular Izquierda/fisiología , Ecocardiografía , Genotipo , Predisposición Genética a la EnfermedadRESUMEN
Introduction. In critically ill patients, the occurrence of multidrug-resistant Pseudomonas aeruginosa infection is a significant concern, given its ability to acquire multidrug-resistant, form biofilms and secrete toxic effectors.Hypothesis or Gap Statement. In Brazil, limited data are available regarding the prevalence of dissemination, and the impact of the type III secretion system (T3SS) on toxin production and biofilm formation in clinical isolates of P. aeruginosa.Aim. This study investigates the dissemination of virulent P. aeruginosa harbouring the bla KPC-2 and bla PDC-5 genes, the presence of T3SS genes and their biofilm-forming capability.Methodology. A total of 128 non-duplicate clinical isolates of carbapenem-resistant P. aeruginosa (CRPA) from different sources collected from eight hospitals were examined. Detection was performed by PCR of the T3SS genes (exoU, exoT, exoS and exoY), carbapenemases (bla KPC, bla GIM and bla NDM) and beta-lactamase gene (bla PDC). PFGE and phenotypic biofilm production (initial adhesion assay and biofilm cell concentration) were performed.Results. We found exoT+ (86%) to be the most frequent genotypic variant, followed by exoY+ (61%). Notably, a substantial proportion of isolates exhibited the simultaneous presence of exoU+ and exoS+ genes, along with a high prevalence of bla KPC-2 + (64%) and bla PDC-5 + (64%) among the disseminated clones in the evaluated region. Additionally, 78% of the isolates demonstrated biofilm-forming capability, and two distinct clonal profiles were identified and disseminated both intra- and inter-hospital. Also, it was revealed that the exoU genotype was significantly more frequent among multidrug-resistant strains.Conclusion. These findings underscore the ability of multiple virulent and biofilm-producing clones of CRPA to propagate effectively.
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Proteínas Bacterianas , Biopelículas , Infecciones por Pseudomonas , Pseudomonas aeruginosa , Sistemas de Secreción Tipo III , beta-Lactamasas , Biopelículas/crecimiento & desarrollo , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/aislamiento & purificación , Pseudomonas aeruginosa/patogenicidad , Pseudomonas aeruginosa/fisiología , beta-Lactamasas/genética , beta-Lactamasas/metabolismo , Humanos , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Sistemas de Secreción Tipo III/genética , Sistemas de Secreción Tipo III/metabolismo , Infecciones por Pseudomonas/microbiología , Brasil , Hospitales , Farmacorresistencia Bacteriana Múltiple/genética , Antibacterianos/farmacología , Carbapenémicos/farmacología , Virulencia/genética , GenotipoRESUMEN
The mineral content, vitamin C, and chlorogenic acid were determined in 44 genotypes of Andean potatoes reintroduced in the Quebrada de Humahuaca, Jujuy, Argentina. This initiative aims to promote biodiversity and support local producers by determining the nutritional and functional properties of these genotypes. The genotypes from a collection in the Germplasm Bank of INTA Balcarce, were planted in sandy clay loam soils and harvested manually. The tubers obtained showed significant variability in size, even within the same genotype. The maximum yield was 0.60 kg/plant, with the CL 621 genotype having the highest yield. Genotype CL836 stands up for its high content of Mg, Ca, and Zn (190.3 ± 10.5; 112.2 ± 1.9; 1.29 ± 0.12 mg/100 g dw, respectively); CL 790 for its Mn content (2.09 ± 0.048 mg/100 g dw), and CL 516 and CCS 1349 are rich in Zn and Ca (2.23 ± 0.08 and 123.11 ± 6.88 mg/100 g dw) respectively. The highest contents of Vitamin C and chlorogenic acid corresponded to the CCS1385 and CL 631 genotypes (17.62 ± 0.11; 91.64 ± 1.82 mg/100 g dw) respectively. According to the correlation analysis, the highest content of antioxidants was in small tubers. This information will allow promoting the cultivation of genotypes that contribute to the nutritional security of the local population.