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1.
Ann Lab Med ; 42(1): 36-46, 2022 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-34374347

RESUMEN

Background: The emergence of carbapenemase-producing Enterobacteriaceae (CPE) represents a major clinical problem. Recently, the occurrence of CPE has increased globally, but epidemiological patterns vary across region. We report the trends in the genotypic distribution and antimicrobial susceptibility of CPE isolated from rectal and clinical samples during a four-year period. Methods: Between January 2016 and December 2019, 1,254 nonduplicated CPE isolates were obtained from four university hospitals in Korea. Carbapenemase genotypes were determined by multiplex real-time PCR. Antimicrobial susceptibility was profiled using the Vitek 2 system (bioMérieux, Hazelwood, MO, USA) or MicroScan Walkaway-96 system (Siemens West Sacramento, CA, USA). The proportions of carbapenemase genotypes and nonsusceptibility were analyzed using Pearson's chi-square test. Results: Among the 1,254 CPE isolates, 486 (38.8%), 371 (29.6%), 357 (28.5%), 8 (0.6%), 8 (0.6%), and 24 (1.9%) were Klebsiella pneumoniae carbapenemase (KPC), oxacillinase (OXA)-48-like, New Delhi metallo-ß-lactamase (NDM), imipenemase (IMP), Verona integron-encoded metallo-ß-lactamase (VIM), and multiple producers, respectively. The predominant species was K. pneumoniae (72.6%), followed by Escherichia coli (6.5%). More than 90% of the isolates harboring KPC, NDM, and OXA-48-like were nonsusceptible to cephalosporins, aztreonam, and carbapenems. Conclusions: The impact of CPE is primarily due to KPC-, NDM-, and OXA-48-like-producing K. pneumoniae isolates. Isolates carrying these carbapenemase are mostly multidrug-resistant. Control strategies based on these genotypic distributions and antimicrobial susceptibilities of CPE isolates are required.


Asunto(s)
Antiinfecciosos , Enterobacteriaceae Resistentes a los Carbapenémicos , Infecciones por Enterobacteriaceae , Antibacterianos/farmacología , Proteínas Bacterianas/genética , Infecciones por Enterobacteriaceae/epidemiología , Genotipo , Hospitales Universitarios , Humanos , Klebsiella pneumoniae , Pruebas de Sensibilidad Microbiana , República de Corea , beta-Lactamasas/genética
2.
Food Chem ; 369: 130887, 2022 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-34461519

RESUMEN

Rapid deterioration of rice bran due to the LOX3 enzyme catalysed oxidation of PUFA is the major bottleneck for its utilization in various downstream applications. In the present study, we have identified a set of nine novel LOX3-null rice accessions carrying a deletion of C residue in the exon2 causing a frameshift mutation resulting in a truncated non-functional LOX3 protein. Our study, further manifested the predominance of C deletion based LOX3-null allele, named lox3-b, in the aromatic rice germplasm particularly in the Indian Basmati rice group. The LOX3-null genotypes exhibited significantly reduced rancidity, after six months of storage. They also showed significantly lower percentage reduction of linoleic acid (LA), higher γ-oryzanol content and lower hexanal content. A functional dCAPS marker designed based on the deletion polymorphism clearly differentiated LOX3 and lox3-b alleles, and has the potential application in marker assisted rice breeding programmes to develop cultivars with better bran storability.


Asunto(s)
Oryza , Alelos , Genotipo , Lipooxigenasas , Oryza/genética , Fitomejoramiento , Proteínas de Plantas , Polimorfismo Genético
3.
Gene ; 807: 145954, 2022 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-34500050

RESUMEN

Reducing tail fat deposition can increase the economic value of a carcass and improve feed efficiency. This study aimed to explore ELOVL5 and FASN polymorphisms associated with tail fat deposition and their expression levels of sheep. Association analysis showed that ELOVL5 synonymous mutation g.62534 C > T was associated with tail width, tail fat weight, and relative tail fat weight (P < 0.05). FASN synonymous mutation g.12694 A > G was associated with tail length and width (P < 0.05). Combined effect analyses indicated significant differences between the combined genotypes and tail fat deposition. Quantitative real-time reverse transcription PCR indicated that the ELOVL5 and FASN expression levels were significantly higher in tail fat than in other tissues (P < 0.05). ELOVL5 expression levels in tail-fat tissue of big-tail sheep was significantly higher than that in small-tail sheep (P < 0.01). FASN expression levels were significantly higher in tail-fat tissue of small-tail sheep than in that of big-tail sheep (P < 0.05). During development, ELOVL5 tail fat expression increased significantly from 0 to 6 months old (P < 0.05), and FASN expression at 3 months old was significantly higher than that at 0 (minimum) and 6 months old (P < 0.05). Therefore, ELOVL5 and FASN polymorphisms could represent new candidate molecular markers and targets to reduce tail fat deposition in sheep.


Asunto(s)
Adiposidad/genética , Elongasas de Ácidos Grasos/genética , Acido Graso Sintasa Tipo I/genética , Tejido Adiposo/metabolismo , Tejido Adiposo/fisiología , Animales , Pesos y Medidas Corporales/métodos , Elongasas de Ácidos Grasos/metabolismo , Acido Graso Sintasa Tipo I/metabolismo , Genotipo , Polimorfismo Genético/genética , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Ovinos/genética , Cola (estructura animal)/metabolismo
4.
Gene ; 807: 145951, 2022 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-34500051

RESUMEN

AIMS: The purpose of the present study was to analyze the role of selected polymorphisms of SIRT3 and SIRT5 in gastric carcinogenesis. METHODS: For this study, 500 blood samples of GC patients and 500 blood samples of healthy individuals were collected. Six selected polymorphisms of mitochondrial sirtuins were analyzed for analysis using Tetra-Arms PCR followed by DNA sequencing. RESULTS: Mutant allele frequencies of selected polymorphisms [rs3782116 (p < 0.0001), rs6598072 (p < 0.0001) and rs11246020 (p < 0.0001), rs938222 (p = 0.0136), rs3757261 (p = 0.0005) and rs2841511 (p = 0.0015)] were observed significant higher in GC patients vs controls. Haplotype analysis was performed, and 51 haplotypes were generated using haploview software. Among these haplotypes, eleven haplotypes were found associated with a significantly increased risk of GC. Furthermore, SNP-SNP interaction showed a significant correlation between studied SNPs and GC risk. Kaplan Meier analysis showed that mutant allele frequencies of selected polymorphisms are linked with a significant decrease in survival of GC patients CONCLUSIONS: It can be concluded that selected SNPs may be associated with enhanced risk of GC and hence can be potential prognostic markers for prognosis and predisposition of GC.


Asunto(s)
Sirtuina 3/genética , Sirtuinas/genética , Neoplasias Gástricas/genética , Alelos , Grupo de Ascendencia Continental Asiática/genética , Estudios de Casos y Controles , China/epidemiología , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Mitocondrias/genética , Polimorfismo de Nucleótido Simple/genética , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Sirtuina 3/sangre , Sirtuina 3/metabolismo , Sirtuinas/sangre , Sirtuinas/metabolismo
5.
J Infect Chemother ; 28(1): 82-86, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34412982

RESUMEN

Hepatitis B virus (HBV) DNA is detectable in the nails and hair of patients with chronic HBV infection. However, it remains unclear whether HBV DNA can be detectable in the nails and hair of patients with acute HBV infection. We encountered two cases of children with acute HBV infection. HBV DNA in the nails and hair from the two children was evaluated by real-time PCR. To clarify the characteristics of HBV DNA, full-length HBV genome sequencing and phylogenetic tree analysis were performed. The levels of serum HBV DNA in children of cases 1 and 2 at day 0 were 7.6 Log IU/mL and 7.4 Log IU/mL, respectively. Nail HBV DNA was detected in both children (case 1: 4.6 Log IU/mL at day 0, case 2: 5.5 Log IU/mL at day 14). Moreover, hair HBV DNA was detectable in case 2 (4.0 Log IU/mL at day 14). Serum HBV DNA became undetectable within approximately 3-4 months after the first hospital visit. After the resolution of HBV viremia, nail and hair HBV DNA became undetectable. The sequence analysis of serum, nail and hair HBV DNA showed the same HBV genotype in each case (case1: genotype C, case 2: genotype A). In case 1, 3 nucleotides were different in the full-genome HBV sequence between the serum and nails. In case 2, the full-genome HBV sequences were identical among the serum, nails and hair. In conclusion, HBV DNA was detectable in nails and hair of children with acute HBV infection.


Asunto(s)
Hepatitis B Crónica , Hepatitis B , Niño , ADN Viral/genética , Genotipo , Hepatitis B/diagnóstico , Antígenos de Superficie de la Hepatitis B , Antígenos e de la Hepatitis B , Virus de la Hepatitis B/genética , Humanos , Uñas , Filogenia
6.
J Sci Food Agric ; 102(1): 370-382, 2022 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-34139029

RESUMEN

BACKGROUND: Rice yield and grain quality are highly sensitive to soil salinity. Distinct rice genotypes respond to salinity stress differently. To explore the variation in grain yield and grain trait adaptation to moderate, reproductive-stage salinity stress (4 dS/m electrical conductivity), four rice cultivars differing in degrees of vegetative salt tolerance, including Pokkali (salt-tolerant), RD15 (moderately salt-tolerant), KDML105 (moderately salt-susceptible) and IR29 (salt-susceptible), were examined. RESULTS: Grain fertility and 100-grain weight of RD15, KDML105 and IR29, as well as grain morphology of KDML105 and IR29, were significantly disturbed. Interestingly, grain starch accumulation in RD15 and KDML105 was enhanced under stress. However, only RD15 showed changes in starch physicochemical properties, including increased granule diameter, decreased gelatinization peak temperature (Tp ) and decreased retrogradation onset temperature (To ). Notably, Pokkali maintained productivity, grain quality, and starch properties, while the grain quality of IR29 remained unchanged under salinity stress. Multivariate analysis displayed clear separation of productivity, grain morphology, and starch variables of RD15 in the salt-treated group relative to the control group, suggesting that it was the cultivar most impacted by salt stress despite its moderate salt-tolerance at vegetative stage. CONCLUSION: Our results demonstrate specific salinity responses among the rice genotypes, and suggest discrepancies between degrees of salt tolerance at vegetative stage versus the ability to maintain both grain quality and starch properties in response to salinity stress imposed at reproductive stage. © 2021 Society of Chemical Industry.


Asunto(s)
Oryza/crecimiento & desarrollo , Semillas/química , Cloruro de Sodio/metabolismo , Almidón/química , Genotipo , Oryza/genética , Oryza/metabolismo , Salinidad , Estrés Salino , Tolerancia a la Sal , Semillas/crecimiento & desarrollo , Semillas/metabolismo , Cloruro de Sodio/análisis , Almidón/metabolismo
7.
Acta Trop ; 225: 106178, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34627757

RESUMEN

The prevalence of cystic echinococcosis is high in many livestock areas of Peru, where intermediate hosts such as sheep, cattle, and South American camelids can be infected. Several species of E. granulosus have been described in relation to its genetic diversity and distribution. The aim of this study was to determine the species of E. granulosus sensu lato (s.l.) metacestodes collected from sheep, cattle, swine and camelids at different localities in the department of Puno, in the southern highlands of Peru. One hundred and fifty-two echinococcal cysts were collected from 10 different locations. E. granulosus s.l. species were determined by amplification of the Internal transcribed spacer 1 of the ribosomal DNA using a Nested PCR-RFLP technique. The cytochrome C oxidase 1 gene (450 bp) was also amplified and sequenced in samples with different RFLP patterns. Cysts samples were collected from sheep (39.5%), cattle (32.9%), pigs (15.8%) and alpacas/llamas (11.8%). E. granulosus sensu stricto (G1 genotype) was mainly identified in all animal hosts, while, the E. canadensis (G7) was only identified in cysts from pigs and alpacas. This is the first report of E. granulosus sensu stricto and E. canadensis in llamas and alpacas, respectively. Knowledge of species and molecular epidemiology of E. granulosus s.l. in endemic areas in Peru may help to evaluate preventive programs, understand disease transmission, as well as improve vaccine and chemotherapy effectiveness.


Asunto(s)
Equinococosis , Echinococcus granulosus , Echinococcus , Animales , Bovinos , Equinococosis/epidemiología , Equinococosis/veterinaria , Echinococcus granulosus/genética , Genotipo , Ganado , Perú/epidemiología , Ovinos , Porcinos
8.
Acta Trop ; 225: 106203, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34688630

RESUMEN

Hemoplasmas have already been detected in bats in the United States of America, Spain, Australia, Chile, Brazil, Peru, Belize, Nigeria, Costa Rica, Germany, Switzerland and New Caledonia. The recent detection of hemoplasmas closely related to Mycoplasma haematohominis, an agent causing disease in humans, emphasizes the need for additional studies on the diversity of hemoplasmas in bats. The present work aimed to investigate the occurrence and assess the phylogenetic positioning and genetic diversity of hemoplasmas in bats and associated ectoparasites sampled in central-western Brazil. Overall, 43% (58/135) sampled bats and 1.56% (1/64) bat flies (Megistopoda aranea) were positive for hemoplasmas, however, twenty-four and two hemoplasma sequences were obtained from PCR assays targeting 16S and 23S rRNA genes, respectively, since the majority of the obtained amplicons showed faint bands in agarose gel electrophoresis. The obtained 16S rRNA sequences showed to be broadly distributed along the phylogenetic tree, albeit positioned within the 'Haemofelis group' and clustering with other bat-associated hemoplasmas. Twelve 16S rRNA hemoplasma genotypes were found among the 24 obtained sequences. When compared to other bat-related hemoplasmas sequences retrieved from the Genbank, 52 genotypes were found. The two 23S rRNA sequences obtained were positioned as a sister clade to "Candidatus Mycoplasma haematohydrochaerus", M. haemofelis and M. haemocanis. High genetic diversity was found among 16S rRNA hemoplasma sequences detected in non-hematophagous bats from central-western Brazil and previously detected in other regions of the world. Even though the genotype analysis showed that hemoplasmas from the same genus tend to group together, the results from the unipartite and bipartite analyses did not robustly support the hypothesis. Further studies addressing the specificity of hemoplasma genotypes according to bat species and genera should be performed.


Asunto(s)
Infecciones por Mycoplasma , Brasil , ADN Bacteriano/genética , Genotipo , Humanos , Filogenia , ARN Ribosómico 16S/genética
9.
Heart Fail Clin ; 18(1): 1-8, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34776071

RESUMEN

Genetic testing in children with hypertrophic cardiomyopathy (HCM) can modify clinical management and lifestyle counseling. However, predicting long-term outcome and response to management in individual patients remains challenging, because of the peculiar genetic heterogeneity of the disease in the pediatric age range. Children with HCM secondary to an inborn error of metabolism or malformation syndromes tend to have a worse outcome compared with those with the classic sarcomeric form. Among the latter, adverse genetic features are represented by the identification of a pathogenic variant in MYH7, often associated with severe hypertrophy, a complex genotype, or a de novo variant.


Asunto(s)
Miosinas Cardíacas , Cardiomiopatía Hipertrófica , Miosinas Cardíacas/genética , Cardiomiopatía Hipertrófica/genética , Niño , Genotipo , Humanos , Cadenas Pesadas de Miosina/genética , Fenotipo
10.
Gene ; 807: 145949, 2022 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-34481004

RESUMEN

Growth traits is a critical economic trait for animal husbandry. In this study, the SNPs of CTNNA3 and CAP2 genes were investigated to check whether they are associated with growth traits (body weight, body height, body length and chest circumference) in Hu sheep. The result of the association analysis indicated that the mutation in CTNNA3 (g.2018018 A > G) were associated significantly with body weight, body height, body length and chest circumference (P < 0.05), the mutation in CAP2 (g.8588 T > C) were associated significantly with body height at 140, 160, 180 days (P < 0.05), AA and CC of CTNNA3 and CAP2 were the dominant genotypes associated with growth traits in Hu sheep. Moreover, combined effect analyses indicated that the growth traits with combined genotypes AACTNNA3-CCCAP2 and AACTNNA3-CTCAP2 were higher than those with genotype GGCTNNA3-CTCAP2. RT-qPCR indicated that CTNNA3 expression levels were significantly higher in liver and lung than in other nine tissues (P < 0.05), CAP2 expression levels were significantly higher in bone, heart, liver, lung and duodenum than in other six tissues (P < 0.05). In conclusion, CTNNA3 and CAP2 polymorphisms could be used as genetic markers for improving growth traits in Hu sheep husbandry.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Peso Corporal/genética , Ovinos/crecimiento & desarrollo , Animales , China , Marcadores Genéticos/genética , Genotipo , Haplotipos/genética , Humanos , Desequilibrio de Ligamiento , Masculino , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Ovinos/genética , alfa Catenina/genética , alfa Catenina/metabolismo
11.
Food Chem ; 370: 131003, 2022 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-34543920

RESUMEN

Metabolomics is one of the most powerful -omics to assist plant breeding. Despite the recognized genetic diversity in Portuguese common bean germplasm, details on its metabolomics profiles are still missing. Aiming to promote their use and to understand the environment's effect in bean metabolomics profiles, 107 Portuguese common bean accessions, cropped under contrasting environments, were analyzed using spectrophotometric, untargeted and targeted mass spectrometry approaches. Although genotype was the most relevant factor on bean metabolomics profile, a clear genotype × environment interaction was also detected. Multivariate analysis highlighted, on the heat-stress environment, the existence of higher levels of salicylic acid, and lower levels of triterpene saponins. Three clusters were defined within each environment. White accessions presented the lowest content and the colored ones the highest levels of prenol lipids and flavonoids. Sources of interesting metabolomics profiles are now identified for bean breeding, focusing either on local or on broad adaptation.


Asunto(s)
Phaseolus , Genotipo , Metabolómica , Phaseolus/genética , Fitomejoramiento
12.
J Sci Food Agric ; 102(1): 62-72, 2022 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-34031883

RESUMEN

BACKGROUND: Dehulling and splitting are important elements of the milling process to produce dhal from pulses. However, grain that is difficult-to-mill because of tightly adhered seed coats or cotyledons that resist separation makes it difficult to achieve high quality dhal. Milling yields are reduced, energy inputs into the milling process are increased, and the resulting dhal can be of poorer quality, chipped or abraded. RESULTS: Eight enzyme pre-treatments were chosen based on the hypothesised mechanisms of seed coat and cotyledon adhesion established previously. Using a difficult-to-mill chickpea (Cicer arietinum L.) genotype, we examined the effects of these pre-treatments, over time, on laboratory-scale milling performance and dhal quality. We pioneered a texture analyser method to measure the flex of the cotyledons and the force required to cleave the cotyledons. The enzyme-induced changes ranged from negative (tough seed coat, weight loss, deleterious colour and texture, increased visual damage to cotyledons and increased kibble loss, concave cotyledons, increased flex, and changes in taste) to positive (brittle seed coat, increased seed volume, improved dehulling efficiency and splitting yield, reduced cotyledon cleavage force, and acceptable dhal quality and taste). CONCLUSION: All pre-treatments improved milling performance compared to milling the raw seed, although there was considerable variation between them. Two pre-treatments showed no improvement in milling yields compared to the water control, and several pre-treatments resulted in unacceptable qualities. Three pre-treatments, endo-polygalacturonanase, α-galactosidase and cellulase, show potential for commercial milling applications and could assist pulse millers globally to achieve high quality dhal at the same time as minimising milling effort. © 2021 Society of Chemical Industry.


Asunto(s)
Cicer/química , Cotiledón/química , Enzimas/química , Manipulación de Alimentos/métodos , Semillas/química , Biocatálisis , Cicer/genética , Cotiledón/genética , Calidad de los Alimentos , Genotipo , Semillas/genética
13.
Gene ; 807: 145933, 2022 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-34464678

RESUMEN

BACKGROUND: Cervical-cancer is among the most commonly diagnosed cancers in women, and infection with human papillomavirus (HPV) is associated with an increased risk of cervical cancer and altered serum concentrations of inflammatory cytokines. We have explored the association between a genetic variation in the Interleukin-10 (IL-10) gene (rs1800896) and cervical cancer risk and its relationship with tissue Interferon gamma (IFN-γ), Transforming growth factor beta (TGF-ß), Tumor necrosis factor alpha (TNF-α) concentrations in women with cervical cancer. METHODS: A total of 315 women with, or without cervical cancer, were recruited into the study. DNA was extracted from cervical cells, and genotyping was undertaken using Taq-man real-time PCR. The genotype frequency and allele distribution were analyzed together with their association with pathological data. The association of the rs1800896 gene variation with tissue levels of the inflammatory cytokines was also investigated. RESULTS: Our data showed a significant association between the A allele of the rs1800896 gene variant and the presence of cervical cancer. In particular, patients with AG/AA genotypes had an increased risk of cervical cancer with an odds ratio of 1.929 (95% confidence interval [CI]: 0.879-4.23, P < 0.001) in a recessive model, compared with the GG genotype. Also, the tissue concentrations of IFN-γ, TGF-ß, and TNF-α in cervical tissues were significantly higher in women with cervical cancer (P < 0.001) and were associated with the AA genotype. CONCLUSION: We have found an association between the polymorphism rs1800896 in the IL-10 gene and an increased risk of cervical cancer as well as a higher level of tissue inflammatory cytokines. Further investigations are necessary on the value of emerging biomarkers for the risk stratification for the management of cervical cancer patients.


Asunto(s)
Interleucina-10/genética , Neoplasias del Cuello Uterino/genética , Adulto , Alelos , Alphapapillomavirus/genética , Alphapapillomavirus/patogenicidad , Citocinas , Femenino , Frecuencia de los Genes/genética , Genotipo , Humanos , Inflamación , Interferón gamma , Interleucina-10/metabolismo , Persona de Mediana Edad , Oportunidad Relativa , Papillomaviridae/genética , Papillomaviridae/patogenicidad , Polimorfismo de Nucleótido Simple/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Factores de Riesgo , Factor de Crecimiento Transformador beta/metabolismo , Factor de Necrosis Tumoral alfa/metabolismo
14.
Gene ; 807: 145950, 2022 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-34481003

RESUMEN

This population-based longitudinal study is the first investigation that assesses the association of common MC4R SNPs with the obesity-related parameters over time and determines the effect of risk alleles during the three adulthood life periods (early, middle, and late) in a large Iranian cohort, a population with a unique genetic make-up that has been understudied and relatively unexplored. We obtained the genotype of 5370 unrelated adults who participated in the ongoing Tehran Cardiometabolic Genetic Study (TCGS) cohort project for the common MC4R SNPs. Linear regression and linear mixed model analyses were performed to examine the effect of MC4R polymorphisms on maximum BMI and other obesity-related factors over time. We recognized that several SNPs associated with the maximum BMI and the increased BMI, waist circumference, and waist-hip ratio across Iranian adults over a lifetime. Interestingly, we found that rs9954571-A has a yet unreported protective role against obesity-related factors, including BMI, waist circumference, waist-hip ratio, and triglyceride level. Additionally, a survey of the impact of the MC4R risk score throughout the adulthood life periods indicated that the MC4R risk score is influenced both the elevated BMI and waist circumference only during the early adulthood period. Our findings can expand our knowledge about the MC4R genetic variant's contributions to adulthood obesity and highlight the importance of evaluating the genetic components affecting obesity over a lifetime, which could be considered for obesity clinical screening and treatment.


Asunto(s)
Obesidad/genética , Receptor de Melanocortina Tipo 4/genética , Adulto , Alelos , Índice de Masa Corporal , Estudios de Cohortes , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Irán/epidemiología , Estudios Longitudinales , Masculino , Tamizaje Masivo/métodos , Persona de Mediana Edad , Obesidad/metabolismo , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Receptor de Melanocortina Tipo 4/metabolismo , Factores de Riesgo , Circunferencia de la Cintura/genética , Relación Cintura-Cadera/métodos
15.
Food Chem ; 371: 131148, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-34808760

RESUMEN

Our study focuses on the complex characterization of a wild and cultivated einkorn collection of the Cereal Gene Bank of Agriculture Research Institute in Hungary, using proteomics, immune analytics and bioinformatics analyses. In a serological ELISA pre-screen of 208 different Triticum monococcum L. ssp. monococcum and Triticum monococcum L. ssp. aegilopoides genotypes with celiac disease samples high diversity was observed in the immune response. Based on the immune analytic results, four genotypes with significantly reduced immune reactivity were selected for detailed proteomics characterization. Our results confirm the benefits of high-throughput/large-scale pre-screening and the use of a complex examination platform to get relevant information about the genetic diversity of celiac disease-relevant proteins in the analyzed einkorn genotypes. These genotypes cannot be incorporated into the daily diet of celiac patients; however, they may represent candidates - especially in combination with enzymatic treatments - to improve the lifestyle of individuals suffering from other clinical conditions like non-celiac wheat sensitivity.


Asunto(s)
Enfermedad Celíaca , Proteínas de Granos , Enfermedad Celíaca/genética , Grano Comestible , Genotipo , Humanos
16.
Spectrochim Acta A Mol Biomol Spectrosc ; 266: 120399, 2022 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-34597869

RESUMEN

The use of vibrational spectroscopy, such as near infrared (NIR) and Raman, combined with multivariate analysis methods to analyze agricultural products are promising for investigating genetically modified organisms (GMO). In Brazil, cotton is grown under humid tropical conditions and is highly affected by pests and diseases, requiring the use of large amounts of phytosanitary chemicals. To avoid the use of those pesticides, genetic improvement can be carried out to produce species tolerant to herbicides, resistant to fungi and insects, or even to provide greater productivity and better quality. Even with these advantages, it is necessary to manage and limit the contact of transgenic species with native ones, avoiding possible contamination or even extinction of conventional species. The identification of the presence of GMOs is based on complex DNA-based analysis, which is usually laborious, expensive, time-consuming, destructive, and generally unavailable. In the present study, a new methodology to identify GMOs using partial least squares discriminant analysis (PLS-DA) on NIR and Raman data is proposed to distinguish conventional and transgenic cotton seed genotypes, providing classification errors for prediction set of 2.23% for NIR and 0.0% for Raman.


Asunto(s)
Aceite de Semillas de Algodón , Espectroscopía Infrarroja Corta , Análisis Discriminante , Genotipo , Análisis de los Mínimos Cuadrados , Semillas/genética
17.
Korean J Parasitol ; 59(5): 457-464, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34724764

RESUMEN

Cystic echinococcosis is a zoonotic parasitic disease caused by Echinococcus species. Tanzania is one of the endemic countries with cystic echinococcosis. This study focussed on identifying genotypes of Echinococcus spp. in Tanzania. We collected 7 cysts from cattle in Mwanza municipal (n=4) and Loliondo district (n=3). The cysts from Mwanza were all E. ortleppi and fertile. In contrast, the cysts from Loliondo were all E. granulosus sensu stricto and sterile. Two from the 4 cysts were a new haplotype of E. ortleppi (G5). These results can improve the preventive and control programs for humans and livestock in Tanzania. To our knowledge, this study is considered the first to identify the genotype and haplotype of Echinococcus spp. in Tanzania.


Asunto(s)
Enfermedades de los Bovinos , Echinococcus granulosus , Echinococcus , Animales , Bovinos , Enfermedades de los Bovinos/epidemiología , Echinococcus/genética , Echinococcus granulosus/genética , Genotipo , Tanzanía/epidemiología
18.
BMC Genomics ; 22(1): 796, 2021 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-34740333

RESUMEN

BACKGROUND: Mastitis is an economically important disease of dairy cows with Staphylococcus aureus a major cause worldwide. Challenge of Holstein-Friesian cows demonstrated that S. aureus strain MOK124, which belongs to Clonal Complex (CC)151, caused clinical mastitis, while strain MOK023, belonging to CC97, caused mild or subclinical mastitis. The aim of this study was to elucidate the molecular mechanisms of the host immune response utilising a transcriptomic approach. Milk somatic cells were collected from cows infected with either S. aureus MOK023 or MOK124 at 0, 24, 48, 72 and 168 h post-infection (hpi) and analysed for differentially expressed (DE) genes in response to each strain. RESULTS: In response to MOK023, 1278, 2278, 1986 and 1750 DE genes were found at 24, 48, 72 and 168 hpi, respectively, while 2293, 1979, 1428 and 1544 DE genes were found in response to MOK124 at those time points. Genes involved in milk production (CSN1, CSN10, CSN1S2, CSN2, a-LACTA and PRLR) were downregulated in response to both strains, with a more pronounced decrease in the MOK124 group. Immune response pathways such as NF-κB and TNF signalling were overrepresented in response to both strains at 24 hpi. These immune pathways continued to be overrepresented in the MOK023 group at 48 and 72 hpi, while the Hippo signalling, extracellular matrix interaction (ECM) and tight junction pathways were overrepresented in the MOK124 group between 48 and 168 hpi. Cellular composition analysis demonstrated that a neutrophil response was predominant in response to MOK124, while M1 macrophages were the main milk cell type post-infection in the MOK023 group. CONCLUSIONS: A switch from immune response pathways to pathways involved in maintaining the integrity of the epithelial cell layer was observed in the MOK124 group from 48 hpi, which coincided with the occurrence of clinical signs in the infected animals. The higher proportion of M1 macrophages in the MOK023 group and lack of substantial neutrophil recruitment in response to MOK023 may indicate immune evasion by this strain. The results of this study highlight that the somatic cell transcriptomic response to S. aureus is dependent on the genotype of the infecting strain.


Asunto(s)
Mastitis Bovina , Infecciones Estafilocócicas , Animales , Bovinos , Femenino , Genotipo , Mastitis Bovina/genética , Leche , Infecciones Estafilocócicas/genética , Infecciones Estafilocócicas/veterinaria , Staphylococcus aureus/genética , Transcriptoma
19.
BMC Genomics ; 22(1): 799, 2021 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-34742249

RESUMEN

BACKGROUND: Size of reference population is a crucial factor affecting the accuracy of prediction of the genomic estimated breeding value (GEBV). There are few studies in beef cattle that have compared accuracies achieved using real data to that achieved with simulated data and deterministic predictions. Thus, extent to which traits of interest affect accuracy of genomic prediction in Japanese Black cattle remains obscure. This study aimed to explore the size of reference population for expected accuracy of genomic prediction for simulated and carcass traits in Japanese Black cattle using a large amount of samples. RESULTS: A simulation analysis showed that heritability and size of reference population substantially impacted the accuracy of GEBV, whereas the number of quantitative trait loci did not. The estimated numbers of independent chromosome segments (Me) and the related weighting factor (w) derived from simulation results and a maximum likelihood (ML) approach were 1900-3900 and 1, respectively. The expected accuracy for trait with heritability of 0.1-0.5 fitted well with empirical values when the reference population comprised > 5000 animals. The heritability for carcass traits was estimated to be 0.29-0.41 and the accuracy of GEBVs was relatively consistent with simulation results. When the reference population comprised 7000-11,000 animals, the accuracy of GEBV for carcass traits can range 0.73-0.79, which is comparable to estimated breeding value obtained in the progeny test. CONCLUSION: Our simulation analysis demonstrated that the expected accuracy of GEBV for a polygenic trait with low-to-moderate heritability could be practical in Japanese Black cattle population. For carcass traits, a total of 7000-11,000 animals can be a sufficient size of reference population for genomic prediction.


Asunto(s)
Genómica , Modelos Genéticos , Animales , Bovinos/genética , Genotipo , Fenotipo , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo
20.
Infect Dis Poverty ; 10(1): 130, 2021 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-34742346

RESUMEN

BACKGROUND: Cystic echinococcosis (CE), caused by the larval stage of the complex Echinococcus granulosus sensu lato (s.l.), is a zoonotic parasitic disease with a high social burden in China. E. ortleppi is a species (formerly genotype 5 of E. granulosus s.l.) with unique epidemic areas (tropical areas), transmission patterns (mainly cattle origin), and pathological characteristics (large and small hook lengths) compared to other species that cause CE. A 19-year-old female patient in an area with no history of echinococcosis in Guizhou Province, China, was diagnosed with E. ortleppi infection in 2019. This study is to understand the source of this human E. ortleppi infection. METHODS: We performed computer tomography (CT) scans, surgical operation, morphological sectioning, molecular diagnosis, phylogenetic analyses, and epidemiological investigation in Anshun City, Guizhou Province, China in 2019. RESULTS: The patient presented with intermittent distension and pain in the upper abdomen without other abnormal symptoms. Routine blood examination results were normal. However, abdominal CT revealed a fertile cyst with a diameter of approximately 8 cm, uniform density, and a clear boundary, but without an evident cyst wall in the right lobe of the liver. The cyst was fertile, and phylogenetic analyses revealed that the isolates represented a new E. ortleppi genus haplotype. A result of 10‒14 years incubation period with indigenous infection was considered available for the case through the epidemiological survey. CONCLUSIONS: CE due to E. ortleppi infection can be confused with other diseases causing liver cysts, resulting in misdiagnosis. A transmission chain of E. ortleppi may exist or existed in the past in the previously considered non-endemic areas of echinococcosis in southwestern China.


Asunto(s)
Equinococosis , Echinococcus , Animales , China/epidemiología , Equinococosis/diagnóstico , Equinococosis/epidemiología , Echinococcus/genética , Echinococcus/patogenicidad , Femenino , Genotipo , Humanos , Filogenia , Adulto Joven
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