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1.
J Clin Lab Anal ; 36(10): e24666, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35989496

RESUMEN

BACKGROUND: SARS-CoV-2 is one of the most contagious viruses in the Coronaviridae (CoV) family, which has become a pandemic. The aim of this study is to understand more about the role of hsa_circ_0004812 in the SARS-CoV-2 related cytokine storm and its associated molecular mechanisms. MATERIALS AND METHODS: cDNA synthesis was performed after total RNA was extracted from the peripheral blood mononuclear cells (PBMC) of 46 patients with symptomatic COVID-19, 46 patients with asymptomatic COVID-19, and 46 healthy controls. The expression levels of hsa_circ_0004812, hsa-miR-1287-5p, IL6R, and RIG-I were determined using qRT-PCR, and the potential interaction between these molecules was confirmed by bioinformatics tools and correlation analysis. RESULTS: hsa_circ_0004812, IL6R, and RIG-I are expressed higher in the severe symptom group compared with the negative control group. Also, the relative expression of these genes in the asymptomatic group is lower than in the severe symptom group. The expression level of hsa-miR-1287-5p was positively correlated with symptoms in patients. The results of the bioinformatics analysis predicted the sponging effect of hsa_circ_0004812 as a competing endogenous RNA on hsa-miR-1287-5p. Moreover, there was a significant positive correlation between hsa_circ_0004812, RIG-I, and IL-6R expressions, and also a negative expression correlation between hsa_circ_0004812 and hsa-miR-1287-5p and between hsa-miR-1287-5p, RIG-I, and IL-6R. CONCLUSION: The results of this in-vitro and in silico study show that hsa_circ_0004812/hsa-miR-1287-5p/IL6R, RIG-I can play an important role in the outcome of COVID-19.


Asunto(s)
COVID-19 , MicroARNs , Receptores de Superficie Celular/metabolismo , COVID-19/genética , Proliferación Celular/fisiología , Síndrome de Liberación de Citoquinas , ADN Complementario , Humanos , Leucocitos Mononucleares/metabolismo , MicroARNs/genética , MicroARNs/metabolismo , ARN Circular/genética , Receptores de Interleucina-6/genética , Receptores de Interleucina-6/metabolismo , SARS-CoV-2 , Regulación hacia Arriba/genética
2.
Nat Commun ; 12(1): 518, 2021 01 22.
Artículo en Inglés | MEDLINE | ID: mdl-33483490

RESUMEN

Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMap, a tool that is both web-based or downloadable, to allow performing homozygosity mapping directly on VCF (Variant Call Format) calls from WES or WGS projects. Following a training step on WES data from 26 consanguineous families and a validation procedure on a matched cohort, our method shows higher overall performances when compared with eight existing tools. Most importantly, when tested on real cases with negative molecular diagnosis from an internal set, AutoMap detects three gene-disease and multiple variant-disease associations that were previously unrecognized, projecting clear benefits for both molecular diagnosis and research activities in medical genetics.


Asunto(s)
Mapeo Cromosómico/métodos , Biología Computacional/métodos , Genoma Humano/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Polimorfismo de Nucleótido Simple , Programas Informáticos , Predisposición Genética a la Enfermedad/genética , Genotipo , Homocigoto , Humanos , Internet , Mutación , Reproducibilidad de los Resultados , Secuenciación del Exoma/métodos
3.
Onderstepoort J Vet Res ; 85(1): e1-e7, 2018 Oct 17.
Artículo en Inglés | MEDLINE | ID: mdl-30456961

RESUMEN

Shiga toxin-producing Escherichia coli (STEC) O157 and non-O157 are food-borne pathogens and contaminants of foods of animal origin. This study was conducted to investigate the presence of virulence and integrase genes in STEC isolates from diarrhoeic calves in Fars Province, Iran. Five hundred and forty diarrheic neonatal calves were randomly selected for sampling. Rectal swabs were collected and cultured for isolation and identification of E. coli following standard methods. The isolates were analysed for the presence of class 1 integrons and bacterial virulence factors using polymerase chain reaction (PCR). Antimicrobial susceptibility testing was performed using the Kirby-Bauer disc diffusion method. Out of 540 diarrhoeic faecal samples, 312 (57.7%) harboured E. coli and 71 (22.7%) of them were identified as STEC: 41(69.5%) carried the stx2 gene, 21 (35.6%) carried the stx1 gene and 3 (5%) carried both. Twenty-six (44%) of the isolates showed the eaegene. Among the STEC isolates examined for susceptibility to eight antimicrobial agents, erythromycin and penicillin (96.8%) resistance were most commonly observed, followed by resistances to ampicillin (71.8%), tetracycline (62.5%) and trimethoprim/sulfamethoxazole (39%). Integrons were detected by PCR in 36% of the STEC tested isolates, 57 (89%) of which showed resistance to at least three antimicrobial agents. Our findings should raise awareness about antibiotic resistance in diarrhoeic calves in Fars Province, Iran. Class 1 integrons facilitate the emergence and dissemination of multidrug-resistance (MDR) among STEC strains recovered from food animals.


Asunto(s)
Enfermedades de los Bovinos/microbiología , Escherichia coli O157/genética , Escherichia coli Shiga-Toxigénica/genética , Animales , Antibacterianos/farmacología , Bovinos , Farmacorresistencia Bacteriana Múltiple/genética , Infecciones por Escherichia coli/microbiología , Infecciones por Escherichia coli/veterinaria , Escherichia coli O157/patogenicidad , Genes Bacterianos/genética , Pruebas de Sensibilidad Microbiana/veterinaria , Reacción en Cadena de la Polimerasa/veterinaria , Escherichia coli Shiga-Toxigénica/patogenicidad , Factores de Virulencia/genética
4.
Jundishapur J Microbiol ; 8(1): e12269, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25789120

RESUMEN

BACKGROUND: Anabolic-androgenic steroids (AAS) abuse by the athletes has dramatically increased during the recent decades. These substances might increase the skin lipids and enhance the cutaneous microbial proliferation. OBJECTIVES: The current study aimed to investigate the potential side effects of AAS on the bacterial microflora colonization of the bodybuilders` skin. PATIENTS AND METHODS: The skin samples of 94 male bodybuilders (71 AAS users, 23 non-AAS users) and 46 subjects of the control group, with similar gender and age, were cultured and incubated in both aerobic condition to isolate Staphylococcus aureus and anaerobic condition for Propionibacterium acnes. The isolated bacteria were identified by standard microbiological techniques. RESULTS: The skin lesions were more frequent in the body builders than the controls. Moreover, statistically significant differences were also observed in skin lesions among the AAS users and the non-AAS user athletes. The prevalence of S. aureus and P. acnes in the athletes was higher than that of the control group. In addition, there was a significant difference in distribution of P. acnes between the bodybuilders who used AAS and those who did not. CONCLUSIONS: A higher number of bacterial flora was found in the bodybuilders particularly those using AAS in comparison to the controls, which might be due to the influence of these AAS on the skin microflora and transmission of the bacteria through the direct contact of the naked skin with the exercise instruments.

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