Cocirculation of Newcastle Disease Virus Genotypes XII and VII Along with Nonvirulent Forms Characterized in Domestic Birds from Peru.

Newcastle disease virus (NDV) is one of the most important pathogens affecting poultry, given its impact on health and production systems worldwide, despite widespread vaccination. Over the past 20 years, NDV has caused severe outbreaks of disease in Peru. These outbreaks primarily affected gamecocks and broiler chickens, with an additional reported case in commercial layers. Therefore, our objective was to identify and characterize the virus responsible for these cases in Peru. We analyzed 14 suspected clinical cases in domestic birds for NDV detection, isolation, and genetic characterization. Among these cases, seven involved gamecocks, with six genotype XII isolates and one genotype VII isolate, representing the first report of NDV genotype VII isolate from fighting roosters in Peru. Additionally, among the six cases in broiler chickens, we detected four genotype XII isolates and three genotype II isolates, including one sample containing both genotypes XII and II. Furthermore, a genotype I viral isolate was identified in a laying hen. Hence, we concluded that two divergent, highly virulent NDV genotypes, genotypes XII and VII, along with avirulent forms such as genotypes I and II are circulating among domestic birds in Peru. Genetic analysis indicates that these viruses are evolving locally within avian species and offers the basis necessary for vaccine adaptation to circulating viruses. Our results highlight the cocirculation of multiple virulent and nonvirulent NDV genotypes in domestic birds in Peru, underscoring the potential role of gamecocks as a viral source of virulent NDV strains in the country and the occurrence of outbreaks in poultry farms.

Cocirculación de los genotipos XII y VII del virus de la enfermedad de Newcastle junto con formas no virulentas caracterizadas en aves domésticas del Perú. El virus de la enfermedad de Newcastle (NDV) es uno de los patógenos más importantes que afectan a la avicultura, dado su impacto en la salud y los sistemas de producción en todo el mundo, a pesar de la vacunación generalizada. Durante los últimos 20 años, el virus de la enfermedad de Newcastle ha causado graves brotes de enfermedades en el Perú. Estos brotes afectaron principalmente a gallos de pelea y pollos de engorde, con un caso adicional reportado en aves de postura comerciales. Por lo tanto, nuestro objetivo fue identificar y caracterizar el virus responsable de estos casos en el Perú. Se analizaron 14 casos cl'inicos sospechosos en aves domésticas para la detección, aislamiento y caracterización genética del virus de Newcastle. Entre estos casos, siete involucraron gallos de pelea, con seis aislamientos del genotipo XII y un aislado del genotipo VII, lo que representa el primer informe de aislamiento del genotipo VII del virus de Newcastle de gallos de pelea en Perú. Además, entre los seis casos en pollos de engorde, se detectaron cuatro aislados del genotipo XII y tres aislados del genotipo II, incluida una muestra que con-ten'ia ambos genotipos XII y II. Además, se identificó un aislado viral de genotipo I en una gallina de postura. Por lo tanto, se concluye que dos genotipos divergentes y altamente virulentos del virus de Newcastle, los genotipos XII y VII, junto con formas avirulentas como los genotipos I y II, están circulando entre las aves domésticas en el Perú. El análisis genético indica que estos virus están evolucionando localmente dentro de las especies aviares y ofrece las bases necesarias para realizar adaptaciones de las vacunas contra los virus circulantes. Nuestros resultados resaltan la cocirculación de múltiples genotipos del virus de Newcastle virulentos y no virulentos en aves domésticas en Perú, subrayando el papel potencial de los gallos de pelea como fuente viral de cepas virulentas del virus de Newcastle en el pa'is y la aparición de brotes en granjas av'icolas.

Cryptic transmission and novel introduction of Dengue 1 and 2 genotypes in Colombia.

Dengue fever remains as a public health challenge in Colombia, standing as the most prevalent infectious disease in the country. The cyclic nature of dengue epidemics, occurring approximately every 3 years, is intricately linked to meteorological events like El Niño Southern Oscillation (ENSO). Therefore, the Colombian system faces challenges in genomic surveillance. This study aimed to evaluate local dengue virus (DENV) transmission and genetic diversity in four Colombian departments with heterogeneous incidence patterns (department is first-level territorial units in Colombia). For this study, we processed 266 serum samples to identify DENV. Subsequently, we obtained 118 genome sequences by sequencing DENV genomes from serum samples of 134 patients infected with DENV-1 and DENV-2 serotypes. The predominant serotype was DENV-2 (108/143), with the Asian-American (AA) genotype (91/118) being the most prevalent one. Phylogenetic analysis revealed concurrent circulation of two lineages of both DENV-2 AA and DENV-1 V, suggesting ongoing genetic exchange with sequences from Venezuela and Cuba. The continuous migration of Venezuelan citizens into Colombia can contribute to this exchange, emphasizing the need for strengthened prevention measures in border areas. Notably, the time to most recent common ancestor analysis identified cryptic transmission of DENV-2 AA since approximately 2015, leading to the recent epidemic. This challenges the notion that major outbreaks are solely triggered by recent virus introductions, emphasizing the importance of active genomic surveillance. The study also highlighted the contrasting selection pressures on DENV-1 V and DENV-2 AA, with the latter experiencing positive selection, possibly influencing its transmissibility. The presence of a cosmopolitan genotype in Colombia, previously reported in Brazil and Peru, raises concerns about transmission routes, emphasizing the necessity for thorough DENV evolution studies. Despite limitations, the study underscores genomic epidemiology's crucial role in early detection and comprehension of DENV genotypes, recommending the use of advanced sequencing techniques as an early warning system to help prevent and control dengue outbreaks in Colombia and worldwide.

A Genome-Focused Investigation Reveals the Emergence of a Mycobacterium tuberculosis Strain Related to Multidrug-Resistant Tuberculosis in the Amazon Region of Brazil.

A previous study in Pará, Northern Brazil, described a strain of Mycobacterium tuberculosis with a unique genotype (SIT2517/T1) associated with multidrug-resistant tuberculosis (MDR-TB). To improve our understanding of MDR-TB transmission dynamics of these strains within this region, we performed phenotypic and genotypic drug susceptibility testing (pDST/gDST), 24-loci mycobacterial interspersed repetitive units (MIRU-VNTR) genotyping, whole-genome sequencing (WGS) and geo-epidemiology analysis. Of the 28 SIT2517/T1 isolates, 19 (67.9%) could be genotyped by 24-loci MIRU-VNTR and 15 by WGS. All belonged to sublineage 4.1.1.3, distinct from other representative Lineage 4 isolates identified in Brazil. The MDR phenotype determined by pDST was confirmed by gDST, the latter also demonstrating the presence of additional mutations conferring pre-extensively drug-resistance (pre-XDR). Discrepancies between gDST and pDST were observed for pyrazinamide and fluoroquinolones. Thirteen out of 15 isolates analyzed by WGS were clustered when applying a 12 single nucleotide polymorphisms (SNPs) cutoff. The SIT2517/T1 isolates were distributed across the metropolitan regions of Belém and Collares municipalities, showing no geographic clustering. WGS-transmission network analysis revealed a high likelihood of direct transmission and the formation of two closely linked transmission chains. This study highlights the need to implement TB genomic surveillance in the Brazilian Amazon region.

Dengue Virus Serotype 3 Origins and Genetic Dynamics, Jamaica.

We identified 3 clades of dengue virus serotype 3 belonging to genotype III isolated during 2019-2020 in Jamaica by using whole-genome sequencing and phylogenomic and phylogeographic analyses. The viruses likely originated from Asia in 2014. Newly expanded molecular surveillance efforts in Jamaica will guide appropriate public health responses.

Factor analytic selection tools and environmental feature-integration enable holistic decision-making in Eucalyptus breeding.

Understanding the genotype-by-environment interaction (GEI) and considering it in the selection process is a sine qua non condition for the expansion of Brazilian eucalyptus silviculture. This study's objective is to select high-performance and stable eucalyptus clones based on a novel selection index that considers the Factor Analytic Selection Tools (FAST) and the clone's reliability. The investigation explores the nuances interplay of GEI and extends its insights by scrutinizing the relationship between latent factors and real environmental features. The analysis, conducted across seven trials in five Brazilian states involving 78 clones, employs FAST. The clonal selection was performed using an extended FAST index weighted by the clone's reliability. Further insights about GEI emerge from the integration of factor loadings with 25 environmental features through a principal component analysis. Ten clones, distinguished by high performance, stability, and reliability, have been selected across the target population of environments. The environmental features most closely associated with factor loadings, encompassing air temperature, radiation, and soil characteristics, emerge as pivotal drivers of GEI within this dataset. This study contributes insights to eucalyptus breeders, equipping them to enhance decision-making by harnessing a holistic understanding-from the genotypes under evaluation to the diverse environments anticipated in commercial plantations.

Molecular characterization and frequency of human pegivirus type 1 (HPgV-1) in kidney transplant recipients from Central-West Brazil.

Human Pegivirus Type 1 (HPgV-1), a ubiquitous commensal virus, has been recently suggested as a marker of immunologic function. There is scarce data for the presence, genotypes, and molecular characteristics of HPgV-1 among kidney transplant recipients. Therefore, the objective of this study was to examine the prevalence and the molecular characteristics (cycle threshold, genotypes) of this viral infection among kidney transplant recipients from the Brasília, Federal District of Brazil. HPgV-1 RNA detection in the plasma was assessed by RT-qPCR. Positive samples were submitted to sequencing and phylogenetic analysis of the 5´-UTR portion of the viral genome. The estimated HPgV-1 prevalence among renal-transplant recipients was 20%. The performed phylogenetic inference revealed that the most frequent genotype among these patients was HPgV-1 genotype 2 (78.9%) presented by its two subgenotypes (2 A and 2B), followed by genotypes 1 and 3 (10.5% each). This study presents new data about the HPgV-1 circulation and molecular characteristics among kidney transplant recipients from the Federal District of Brazil. Further work is fundamental to examine the effect of HPgV-1 among patients with immunological suppression, including kidney transplant recipients.

Selection scan in Native Americans of Mexico identifies FADS2 rs174616: Evidence of gene-diet interactions affecting lipid levels and Delta-6-desaturase activity.

Searching for positive selection signals across genomes has identified functional genetic variants responding to environmental change. In Native Americans of Mexico, we used the fixation index (Fst) and population branch statistic (PBS) to identify SNPs suggesting positive selection. The 103 most differentiated SNPs were tested for associations with metabolic traits, the most significant association was FADS2/rs174616 with body mass index (BMI). This variant lies within a linkage disequilibrium (LD) block independent of previously reported FADS selection signals and has not been clearly associated with metabolic phenotypes. We tested this variant in two independent cohorts with cardiometabolic data. In the Genetics of Atherosclerotic Disease (GEA) cohort, the derived allele (T) was associated with increased BMI, lower LDL-C levels and a decreased risk of subclinical atherosclerosis in women. Significant gene-diet interactions affected lipid, apolipoprotein and adiponectin levels with differences according to sex, involving mainly total and complex dietary carbohydrate%. In the Genotype-related Effects of PUFA trial, the derived allele was associated with lower Δ-6 desaturase activity and erythrocyte membrane dihomo-gamma-linolenic acid (DGLA) levels, and with increased Δ-5 desaturase activity and eicosapentaenoic acid levels. This variant interacted with dietary carbohydrate% affecting Δ-6 desaturase activity. Notably, the relationship of DGLA and other erythrocyte membrane LC-PUFA indices with HOMA-IR differed according to rs174616 genotype, which has implications regarding how these indices should be interpreted. In conclusion, this observational study identified rs174616 as a signal suggesting selection in an independent linkage disequilibrium block, was associated with cardiometabolic and erythrocyte measurements of LC-PUFA in two independent Mexican cohorts and showed significant gene-diet interactions.

RADseq datasets of native beans from Mexico.

Forty-five accessions of the genus Phaseolus from the orthodox seed collection of the National Center for Genetic Resources (CNRG) of the National Institute of Forestry, Agricultural, and Livestock Research (INIFAP) of Mexico were sequenced using RADseq. The species utilized were: P. acutifolius (14), P. coccineus (12), P. lunatus (8), P. dumosus (6), P. leptostachyus (2), P. filiformis (2), and P. vulgaris (1). A variant call file (VCF) was generated using GATK with the P. vulgaris reference genome GCF_000499845.1, identifying 97,103 shared SNPs among the species. These data have the potential to be used for studies of genetic diversity intra and interspecies, phylogeny, evolution, genetic resource conservation, and agricultural improvement.

Conservation genomics of the wild pumpkin Cucurbita radicans in Central Mexico: The influence of a changing environment on the genetic diversity and differentiation of a rare species.

The genetic diversity found in natural populations is the result of the evolutionary forces in response to historical and contemporary factors. The environmental characteristics and geological history of Mexico promoted the evolution and diversification of plant species, including wild relatives of crops such as the wild pumpkins (Cucurbita). Wild pumpkin species are found in a variety of habitats, evidencing their capability to adapt to different environments. Despite the potential value of wild Cucurbita as a genetic reservoir for crops, there is a lack of studies on their genetic diversity. Cucurbita radicans is an endangered species threatened by habitat destruction leading to low densities in small and isolated populations. Here, we analyze Genotype by Sequencing genomic data of the wild pumpkin C. radicans to evaluate the influence of factors like isolation, demographic history, and the environment shaping the amount and distribution of its genetic variation. We analyzed 91 individuals from 14 localities along its reported distribution. We obtained 5,107 SNPs and found medium-high levels of genetic diversity and genetic structure distributed in four main geographic areas with different environmental conditions. Moreover, we found signals of demographic growth related to historical climatic shifts. Outlier loci analysis showed significant association with the environment, principally with precipitation variables. Also, the outlier loci displayed differential changes in their frequencies in response to future global climate change scenarios. Using the results of genetic structure, outlier loci and multivariate analyses of the environmental conditions, we propose priority localities for conservation that encompass most of the genetic diversity of C. radicans.

Identification of Genomic Predictors of Muscle Fiber Size.

The greater muscle fiber cross-sectional area (CSA) is associated with greater skeletal muscle mass and strength, whereas muscle fiber atrophy is considered a major feature of sarcopenia. Muscle fiber size is a polygenic trait influenced by both environmental and genetic factors. However, the genetic variants underlying inter-individual differences in muscle fiber size remain largely unknown. The aim of our study was to determine whether 1535 genetic variants previously identified in a genome-wide association study of appendicular lean mass are associated with the CSA of fast-twitch muscle fibers (which better predict muscle strength) in the m. vastus lateralis of 148 physically active individuals (19 power-trained and 28 endurance-trained females, age 28.0 ± 1.1; 28 power-trained and 73 endurance-trained males, age 31.1 ± 0.8). Fifty-seven single-nucleotide polymorphisms (SNPs) were identified as having an association with muscle fiber size (p < 0.05). Of these 57 SNPs, 31 variants were also associated with handgrip strength in the UK Biobank cohort (n = 359,729). Furthermore, using East Asian and East European athletic (n = 731) and non-athletic (n = 515) cohorts, we identified 16 SNPs associated with athlete statuses (sprinter, wrestler, strength, and speed-strength athlete) and weightlifting performance. All SNPs had the same direction of association, i.e., the lean mass-increasing allele was positively associated with the CSA of muscle fibers, handgrip strength, weightlifting performance, and power athlete status. In conclusion, we identified 57 genetic variants associated with both appendicular lean mass and fast-twitch muscle fiber size of m. vastus lateralis that may, in part, contribute to a greater predisposition to power sports.

Molecular frequency of bovine leukemia virus in Creole cattle of Eastern Colombia.

Enzootic Bovine Leukosis (EBL), caused by the bovine leukosis virus (BLV), is a global infectious disease affecting livestock. This study focuses on studying the frequency and genetic traits of BLV in three Creole breeds including Chino Santandereano (Chino), Casanareño (CAS), and Sanmartinero (SM) in Eastern Colombia. We implemented a cross-sectional survey between 2019 and 2020 across four departments (Arauca, Casanare, Santander and Meta) in Eastern Colombia to assess the molecular characteristics of BLV infection in these breeds. A total of 253 cattle were analyzed, of which 42.6 %, 28.8 %, and 28.4 % belonged to the Chino, CAS, and SM breeds, respectively. BLV provirus was detected using nested polymerase chain reaction (n-PCR) targeting the conserved region of the env viral gene. Subsequently, the obtained amplicons were sequenced and subjected to phylogenetic analyses. The overall BLV infection frequency was 26.48 % (95 % CI: 21.01 - 31.98 %), with Chino exhibiting the highest frequency (35.1 %) following by SAM and CAS, respectively (P < 0.05). Other epidemiological variables associated with the infection included age, department, and season (P < 0.05). BLV-positive animals exhibited elevated levels of total serum proteins (P < 0.05), while molecular characterization revealed the exclusive circulation of BLV genotype 1 within these breeds. This study provides an updated assessment of BLV infection in Creole breeds from the eastern of Colombia, underscoring their lower infection frequency compared to introduced breeds and their reduced susceptibility to developing clinical signs. The epidemiological and molecular characteristics observed should be considered in developing control programs aimed at improving genetic resistance to BLV in Colombian cattle.

Genotype-by-gestational thermal environment interaction and its impact on the future performance of tropical composite beef cattle offspring.

With global warming, there are growing challenges for raising taurine and composite beef cattle populations in tropical regions, including elevated temperatures, limited forage availability, parasite infestation, and infectious diseases. These environmental factors can trigger specific physiological responses in the developing fetus, which may have long-term implications on its performance. Therefore, the main objective of this study was to assess the influence of naturally induced thermal stress during the gestation period on the subsequent performance of tropical composite beef cattle progeny. Furthermore, we aimed to investigate the impact of genotype-by-gestational thermal environment interaction (G×Eg) on traits under selection pressure in the breeding population. A total of 157,414 animals from 58 farms located in various Brazilian states were recorded for birth weight (BW), preweaning weight gain (PWG), yearling weight (YW), hip height (HH), scrotal circumference (SC), and days to first calving (DFC). We first applied a linear regression model to the BW data, which revealed that the last 40 d of gestation were suitable for calculating the mean temperature humidity index (THIg). Subsequent regression analyses revealed that for every 10-unit increase in THIg, detrimental effects of approximately 1.13% to 16.34% are expected for all traits evaluated. Genetic parameters were estimated through a reaction norm model using THIg as the environmental descriptor. The posterior means of heritability estimates (SD) were 0.35 (0.07), 0.25 (0.03), 0.31 (0.03), 0.37 (0.01), 0.29 (0.07), and 0.20 (0.09) for the direct effect of BW, PWG, YW, HH, SC, and DFC, respectively. These estimates varied along the range of THIg values, suggesting a variable response to selection depending on the thermal environment during gestation. Genetic correlation estimates between more divergent THIg values were low or negative for YW, PWG, and DFC, indicating that the best-performing individuals at low THIg values may not perform as well at high THIg values and vice versa. Overall, thermal stress during gestation impacts the future performance of beef cattle offspring. Our results indicate the need for developing effective breeding strategies that take into account G×Eg effects and the re-ranking of breeding animals along the THIg scale, particularly for traits such as DFC that are highly sensitive to thermal stress.

With global warming posing increasing challenges in tropical regions, this study aimed to assess the impact of thermal stress during gestation on the performance of composite beef cattle offspring. Environmental factors such as high temperatures, humidity, limited forage availability, and parasite infestation can elicit physiological responses in the developing fetus, affecting its long-term performance and welfare. Using the temperature humidity index (THIg) of the late gestation as a measure of thermal environment, a reaction norm model was applied to analyze the birth weight, preweaning weight gain, yearling weight, hip height, scrotal circumference, and days to first calving (DFC). Results revealed that increasing THIg values were associated with a detrimental effect in these traits. Genotype-by-environment interaction was found to significantly influence trait variability, with DFC showing the strongest effect. Negative genetic correlations were observed between divergent THIg values, suggesting that individuals performing well in mild thermal environments may not excel in high thermal stress conditions. The heritability estimates varied along the THIg scale, indicating that selection response may vary depending on the thermal environment during gestation. These findings emphasize the need for breeding strategies that account for genotype-by-environment effects and consider the impact of thermal stress on cattle performance.

Stability and genetic parameters for cassava yield attributes in the tropical humid region of Brazil.

The performance differences in cassava genotypes arising from genotype vs. environment interactions (G × E) often lead to responses that are significantly lower than expected for selection. The objective of this study was to evaluate different stability methods, both parametric and non-parametric, such as additive main-effects and multiplicative interaction (AMMI), main effect of genotypes plus G × E (GGE), and weighted average of absolute scores (WAASB), in order to quantify the G × E in multi-environmental trials. A total of 12 genotypes were assessed across 12 environments using a completely randomized block design, with three replicates for traits such as fresh root yield (FRY) and dry matter content in the roots (DMC). The data were subjected to analysis of variance and the Scott Knott test (p < 0.05). The sum of squares (SQ) of genotypes, environment, and G × E effects were equally distributed for FRY, whereas for DMC, these effects accounted for 64.1%, 21.9%, and 13.8% of the SQ, respectively, indicating a lower environmental effect on this characteristic. Using the AMMI, GGE, and WAASB methods, genotypes with high agronomic performance and stability for FRY (BR11-34-41 and BR11-34-69) (> 32 t ha-1) and DMC (BRS Novo Horizonte, BR12-107-002, and BR11-24-156) (> 37%) were identified. The broad-sense heritability ( h 2 ) for FRY and DMC was estimated to be 0.45 and 0.75, respectively. Approximately 72% of the methods identified BRS Novo Horizonte as the genotype with the highest stability and performance for DMC, while 47% identified genotypes BR11-34-41 and BR11-34-69 for FRY and intermediate DMC. Genotype BR11-24-156 exhibited high static stability according to 50% of the methods. Significant correlations were observed between stability and agronomic performance across the different methods, enabling the formation of groups based on stability concepts. Additionally, it was found that two mega-environments existed for FRY, whereas DMC displayed a single mega-environment with similar patterns, indicating an absence of G × E. We identified superior genotypes that could be promoted to national performance trials to develop stable cultivars with better yield attributes in cassava. Supplementary Information: The online version contains supplementary material available at 10.1007/s10681-024-03384-5.

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

BACKGROUND: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients. METHODS: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. RESULTS: Twenty-nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.-32-13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency-related benign alleles. We identified two novel variants (c.1615 G>A and c.1076-20_1076-4delAAGTCGGCGTTGGCCTG). CONCLUSION: To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population-wide studies are required to better characterize the incidence of this disease in Mexican population.

Genotypic and morphological identification of opportunistic microorganisms in triple-syringe tubing from dental units.

BACKGROUND: In Mexico and around the world, water in dental units, including triple syringes, comes from municipal chlorinated water mains. The microbial contamination of dental unit water systems constitutes a risk factor for opportunistic infections. OBJECTIVES: The present work aimed to identify the bacteria present in the triple-syringe water lines of dental units at a dental school of a public university in Mexico, with a hypothesis that opportunistic bacteria of importance to human health would be found. MATERIAL AND METHODS: A cross-sectional study was carried-out. A total of 100 samples of triple-syringe tubing from dental units operated by a dental school of a public university in Mexico were analyzed before and after their use in dental practice. Bacterial biofilm was cultured and isolated from the tubing, using standard microbiological methods, and then the species present were identified through 16S rRNA gene sequencing. The characterization of the biofilm was performed by means of scanning electron microscopy (SEM). RESULTS: Bacterial growth was observed in 20% of the non-disinfected and 10% of the disinfected samples, with 11 strains isolated. Six genera and 11 bacterial species were genetically identified. Coagulasenegative staphylococci (CoNS), considered opportunistic human pathogens, were among the most critical microorganisms. Scanning electron microscopy revealed a thick polymeric matrix with multiple bacterial aggregates. CONCLUSIONS: Opportunistic bacteria from human skin and mucous membranes were detected. Under normal conditions, these bacteria are incapable of causing disease, but are potentially harmful to immunosuppressed patients.

Mycobacterium tuberculosis Beijing in the State of Nuevo Leon, Mexico.

Tuberculosis remains a serious threat to human health as an infectious disease in Mexico. Data about the genotypes of circulating Mycobacterium tuberculosis isolates (MTB) in the State of Nuevo Leon, Mexico are scarce. We aimed to determine the genotypes of circulating MTB belonging to the Beijing lineage recovered from patients in the State of Nuevo Leon, Mexico. A total of 406 MTB isolates from this state were genotyped using the spoligotyping method and 18-locus MIRU-VNTR. Lineage classification and MTB transmission analysis were performed. Based on the spoligotyping analysis, we found 24 strains belonging to the Beijing genotype that were characterized phylogenetically. The MIRUs showed greater discriminatory power than the standard RFLP-IS6110 method; therefore, the greatest allelic diversity among the Beijing strains was observed with MIRU10, MIRU31, MIRU39, MRU40, and MIRU 26. MVLA analysis showed a profile variation between Beijing and non-Beijing strains. The minimum spanning tree (MST) showed that 79% (19) of the strains are related. All Beijing strains exhibited the deletion of region TbD1, which is a characteristic of modern strains. The application of spoligotyping and MIRU-VNTR-18 methods together proved to be more sensitive, discriminatory, and rapid than the standard method for the epidemiological analysis of Mycobacterium Beijing isolates. This study is one of the first to describe the genomic diversity of M. Beijing in the State of Nuevo Leon, Mexico.

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis. RESULTS: We employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and Sanger sequencing, along with collecting phenotypic data from the patients for comparison. Among the 45 patients, 29 (64%) exhibited a deletion of 15q11-q13, while the remaining 16 (36%) had uniparental disomy. No statistically significant differences were found in the main signs and symptoms of PWS. However, three clinical features showed significant differences between the groups. Deletion patients had a higher prevalence of myopia than those with uniparental disomy, as well as obstructive sleep apnea and an unusual skill with puzzles. CONCLUSIONS: The diagnostic tests (MS-HRM, MS-MLPA, and Sanger sequencing) yielded positive results, supporting their applicability in PWS diagnosis. The study's findings indicate a general similarity in the genotype-phenotype correlation across genetic subtypes of PWS.

Early and late-onset preeclampsia: effects of DDAH2 polymorphisms on ADMA levels and association with DDAH2 haplotypes.

Objective: To examine whether the DDAH2 promoter polymorphisms -1415G/A (rs2272592), -1151A/C (rs805304) and -449G/C (rs805305), and their haplotypes, are associated with PE compared with normotensive pregnant women, and whether they affect ADMA levels in these groups. Methods: A total of 208 pregnant women were included in the study and classified as early-onset (N=57) or late-onset PE (N =49), and as normotensive pregnant women (N = 102). Results: Pregnant with early-onset PE carrying the GC and GG genotypes for the DDAH2 -449G/C polymorphism had increased ADMA levels (P=0.01). No association of DDAH2 polymorphisms with PE in single-locus analysis was found. However, the G-C-G haplotype was associated with the risk for late-onset PE. Conclusion: It is suggested that DDAH2 polymorphisms could affect ADMA levels in PE, and that DDAH2 haplotypes may affect the risk for PE.

Genomic characterization of infectious bursal disease virus in Argentina provides evidence of the recent transcontinental spread of Chinese genotype A2dB1b.

The infectious bursal disease virus (IBDV) is a significant pathogen affecting the poultry industry worldwide. Its epidemiological history has been marked by the emergence of strains with different antigenic, pathogenic, and genetic features, some of which have shown notable spread potential. The A2dB1b genotype, also known as novel variant, has become widespread and gained increased relevance in IBDV epidemiology. This genotype was described in China in the 2010s and rapidly spread in Asia and Africa. The present study describes the circulation of the A2dB1b genotype in Argentina. Applying a next-generation sequencing approach, we obtained the complete coding sequence of 18 Argentine viruses. The high level of genomic homogeneity observed amongst these viruses, their monophyletic clustering in both partial and complete segments A and B derived phylogenies, and their close relatedness to some Chinese strains suggest that a unique transcontinental spread event from China to Argentina occurred recently. The apparent success of the A2dB1b genotype spreading throughout Asia, Africa, and South America may partially be due to specific amino acid characteristics. Novel residues in the hypervariable region of VP2 may help A2dB1b IBDVs evade the protection elicited by the applied commercial vaccines. Our findings underscore the importance of continuous characterization of field samples and evaluation of the control measures currently applied to fight against this specific IBDV genotype.

Genetic profile of Brazilian patients with LAMA2-related dystrophies.

LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2-RD patients enrolled at seven research centers in Brazil. We identified 58 different pathogenic variants, including 21 novel ones. Six variants were more prevalent and were present in 81.5% of the patients. Notably, the c.1255del, c.2049_2050del, c.3976 C>T, c.5234+1G>A, and c.4739dup variants were found in patients unable to walk and without cortical malformation. In contrast, the c.2461A>C variant was present in patients who could walk unassisted. Among ambulatory patients, missense variants were more prevalent (p < 0.0001). Although no specific hotspot regions existed in the LAMA2, 51% of point mutations were in the LN domain, and 88% of the missense variants were found within this domain. Functional analysis was performed in one intronic variant (c.4960-17C>A) and revealed an out-of-frame transcript, indicating that the variant creates a cryptic splicing site (AG). Our study has shed light on crucial phenotype-genotype correlations and provided valuable insights, particularly regarding the Latin American population.