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1.
Bull Exp Biol Med ; 175(4): 473-476, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37768454

RESUMO

In the present study, a stimulating effect of a new synthetic organoselenium compound 2,6-dipyridinium-9-selenabicyclo[3.3.1]nonandibromide (974zh) on the immunogenic activity of the vaccine strain Yersinia pestis EV NIIEG was revealed. After infection with the virulent plague strain, the survival rate of laboratory mice immunized with the vaccine strain grown on Hottinger's agar in the presence of 974zh (300 µg/ml) increased in comparison with control animals immunized with the Y. pestis EV NIIEG culture grown on agar without the studied compound. Plasmid screening of cultures grown on medium with and without 974zh showed that plasmid DNA of Y. pestis EV culture grown in the presence of 974zh had broader bands in the control grown without 974zh. This phenomenon can indicate activation of replication of plasmid DNA of Y. pestis EV under the influence of the experimental compound.

2.
Cesk Patol ; 59(2): 64-67, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37468325

RESUMO

Complete and partial hydatidiform moles are abnormal products of conception that can be identified by clinical, ultrasonographic, morphologic, histologic, and genetic methods. The diagnosis is usually confirmed only by histological examination. However, accurate diagnosis based on morphological criteria is difficult and some studies have shown that misclassifications are common, even when analysed by highly experienced pathologists. Misdiagnosis may mean that women are either not included in adequate ß-hCG follow-up with the risk that the hydatidiform mole progresses to choriocarcinoma or, conversely, are included in follow-up unnecessarily. A reliable complementary method to pathological interpretation may be genetic analysis of the conceptus to eliminate the diagnostic dilemma by distinguishing non-molar spontaneous abortions from hydatidiform moles and defining the type of hydatidiform mole. The aim of our short paper is to introduce the routine molecular analysis used in our laboratory to a wider range of clinical pathologists.


Assuntos
Aborto Espontâneo , Mola Hidatiforme , Neoplasias Uterinas , Gravidez , Feminino , Humanos , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/genética , Mola Hidatiforme/patologia , Aborto Espontâneo/diagnóstico , Aborto Espontâneo/genética , Aborto Espontâneo/patologia , Diagnóstico Diferencial
3.
Klin Lab Diagn ; 67(11): 658-662, 2022 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-36398775

RESUMO

A PCR assay has been developed to identify the DNA of the human herpes virus type 7. The search and selection of conserved regions was carried out by comparing the whole genome nucleotide sequences of HHV-7. A fragment duplicated in the HHV-7 genomes was chosen as a target for amplification. The performance of the assay was tested on a synthetic matrix and clinical samples. The developed assay has high sensitivity and specificity and showed good efficiency in detecting HHV-7 DNA in clinical samples.


Assuntos
Herpesvirus Humano 7 , Humanos , Herpesvirus Humano 7/genética , Sensibilidade e Especificidade , Reação em Cadeia da Polimerase , Técnicas de Amplificação de Ácido Nucleico , Bioensaio
4.
Z Rheumatol ; 79(7): 611-623, 2020 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-32761370

RESUMO

Autoinflammatory syndromes are characterized by periodic febrile attacks in combination with increased inflammatory markers. The dysregulation of different cellular signaling pathways leads to an excessive immune response, which can in turn promote multisystemic inflammatory processes. Due to overlapping symptoms, variable expressivity and pleiotropy, a purely clinical diagnosis of autoinflammatory diseases is difficult in many cases. Because an early and definitive diagnosis can greatly improve the quality of life of many patients, molecular genetic methods have become an important part of the diagnostic process. With the development of next-generation sequencing (NGS), the genetic diagnosis of patients with autoinflammatory diseases has significantly improved. Considerable progress has not only been made in the genetic characterization of undiagnosed patients, but additionally in identifying numerous new disease-associated genes; however, the plethora of molecular genetic analytical methods makes it difficult to select the method with the highest diagnostic specificity and sensitivity. The NGS technologies have also led to a large increase in the number of identified variants, making the clinical evaluation of these variants more complex. Consensus-driven and standardized molecular diagnostic guidelines, both for the diagnostic process and for the interpretation of the obtained results, have therefore become essential.


Assuntos
Doenças Hereditárias Autoinflamatórias , Qualidade de Vida , Biomarcadores , Febre , Testes Genéticos , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Humanos , Síndrome
5.
Artigo em Russo | MEDLINE | ID: mdl-32649812

RESUMO

Medulloblastoma (MB) is the most common brain malignancy in children occurring in the posterior cranial fossa. This tumor is characterized by high risk of metastasis along the CSF pathways. Significant progress in research of this tumor and appropriate treatment is associated with determining the various molecular categories of primary medulloblastomas. This analysis includes certain factors of cytogenetic and transcriptional proliferation. Modern treatment approaches for patients older than 3 years include advanced resection, craniospinal irradiation with a boost on the postoperative bed followed by platinum-based chemotherapy. Conventional radiotherapy including craniospinal irradiation results a significant number of complications. Morbidity rate is increased throughout long-term follow-up. Secondary tumors including glioblastomas are under special attention since their occurrence is associated with a fatal outcome. This may partially explaine the fact that chemotherapy without repeated morphological verification doesn't always ensure tumor growth control in patients with recurrent medulloblastomas. The authors consider irradiation-induced glioblastomas secondary to primarily verified medulloblastomas in patients who had previously undergone craniospinal irradiation as a component of combined treatment after tumor resection. It was found that the incidence of this phenomenon is significant and made up about 10% among patients with recurrent medulloblastomas. This value is significantly higher compared to previous data. The authors analyzed patterns of occurrence of irradiation-induced glioblastomas depending on the molecular genetic group and clinical characteristics of patients after primary surgery. Treatment outcomes were estimated too. It was concluded that morphological verification is necessary if long-term recurrence is diagnosed after combined treatment of medulloblastoma.


Assuntos
Neoplasias Cerebelares , Glioblastoma , Meduloblastoma , Criança , Terapia Combinada , Humanos , Recidiva Local de Neoplasia
6.
Hautarzt ; 70(7): 490-496, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-31143971

RESUMO

Skin tumors can manifest solitarily and sporadically but can also be multiple and familial. Beside the skin, hereditary cutaneous tumor syndromes also affect extracutaneous organs and are clinically and genetically heterogeneous. Taking the medical history, a clinical examination and dermatopathological characterization of the respective neoplasia will help the dermatologist to reach a diagnosis at an early stage. Subsequently, this diagnosis can be unambiguously confirmed by molecular genetic analysis. Here, we provide an overview and update on selected hereditary cutaneous tumor syndromes.


Assuntos
Testes Genéticos/métodos , Técnicas de Diagnóstico Molecular/métodos , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Predisposição Genética para Doença , Humanos , Biologia Molecular , Pele
7.
J Pediatr ; 196: 161-167.e1, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29499989

RESUMO

OBJECTIVE: To clarify the clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome. STUDY DESIGN: Ten patients with neonatal Dubin-Johnson syndrome were recruited from 6 pediatric centers in Japan between September 2013 and October 2016. Clinical and laboratory course, macroscopic and microscopic liver findings, and molecular genetic findings concerning ATP-binding cassette subfamily C member 2 (ABCC2) were retrospectively and prospectively examined. RESULTS: All neonates exhibited cholestasis, evident as prolonged jaundice with or without acholic stools and elevations of serum direct bilirubin as well as γ-glutamyltransferase or total bile acids. Only 38% (3 of 8) of patients who underwent liver biopsy showed a grossly black liver or melanin-like pigment deposits in hepatocytes; their biopsies were performed in early infancy. Immunohistochemically, all liver specimens showed no expression of multidrug resistance-associated protein 2 but increased expression of the bile salt export pump protein. Homozygous or compound heterozygous pathogenic variants of ABCC2 were identified in all patients, representing 11 distinct pathogenic variants including 2 not previously reported. CONCLUSIONS: Immunohistochemical staining of the liver for multidrug resistance-associated protein 2 and molecular genetic analysis of ABCC2 are crucial for accurate diagnosis of neonatal Dubin-Johnson syndrome.


Assuntos
Icterícia Idiopática Crônica/diagnóstico , Icterícia Idiopática Crônica/genética , Membro 11 da Subfamília B de Transportadores de Cassetes de Ligação de ATP/metabolismo , Ácidos e Sais Biliares/metabolismo , Bilirrubina/metabolismo , China , Feminino , Hepatócitos/metabolismo , Humanos , Recém-Nascido , Doenças do Recém-Nascido , Japão , Icterícia , Icterícia Idiopática Crônica/patologia , Icterícia Idiopática Crônica/cirurgia , Fígado/metabolismo , Fígado/patologia , Masculino , Proteína 2 Associada à Farmacorresistência Múltipla , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Mutação , Estudos Prospectivos , Estudos Retrospectivos
8.
Arch Virol ; 163(2): 391-400, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29086107

RESUMO

BACKGROUND: Characterization of influenza viruses is critical for detection of new emerging variants. Herein, we analyzed the genetic diversity and drug susceptibility of the neuraminidase gene (NAs) expressed by influenza A/H1N1pdm09 and A/H3N2 viruses circulating in Iran from 2010 to 2015. METHODS: We genetically analyzed the NAs of 38 influenza A/H1N1pdm09 and 35 A/H3N2 isolates. RESULTS: The Iranian A/H1N1pdm09 viruses belonged to seven genogroups/subgenogroups, with the dominant groups being genogroups 6B and 6C. The A/H3N2 isolates fell into six gneogroups/subgenogroups, with the dominant genogroups being 3C and 3C.2a. The most common mutations detected among the A/H1N1pdm09 viruses included N44S, V106I, N200S, and N248D. All H1N1pdm09 viruses were genetically susceptible to the NAIs. However, one A/H1N1pdm09 virus from the 2013-2014 season possessed an NA-S247N mutation, which reduces the susceptibility to oseltamivir. In case of H3N2, none of the analyzed Iranian strains carried a substitution that might affect its susceptibility to NAIs. CONCLUSION: The ongoing evolution of influenza viruses and the detect of influenza viruses with reduced susceptibility to NAIs warrants continuous monitoring of the circulating strains.


Assuntos
Vírus da Influenza A Subtipo H1N1/enzimologia , Vírus da Influenza A Subtipo H3N2/enzimologia , Influenza Humana/virologia , Neuraminidase/genética , Proteínas Virais/genética , Antivirais/farmacologia , Humanos , Vírus da Influenza A Subtipo H1N1/classificação , Vírus da Influenza A Subtipo H1N1/efeitos dos fármacos , Vírus da Influenza A Subtipo H1N1/genética , Vírus da Influenza A Subtipo H3N2/classificação , Vírus da Influenza A Subtipo H3N2/efeitos dos fármacos , Vírus da Influenza A Subtipo H3N2/genética , Influenza Humana/tratamento farmacológico , Influenza Humana/epidemiologia , Irã (Geográfico)/epidemiologia , Mutação de Sentido Incorreto , Neuraminidase/antagonistas & inibidores , Neuraminidase/metabolismo , Oseltamivir/farmacologia , Filogenia , Proteínas Virais/antagonistas & inibidores , Proteínas Virais/metabolismo
9.
Zoo Biol ; 37(3): 171-182, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29740857

RESUMO

The naked mole rat, Heterocephalus glaber, is a highly unusual mammal that displays a complex social system similar to that found in eusocial insects. Colonies of H. glaber are commonly maintained in zoo collections because they represent fascinating educational exhibits for the public. However, little is known about the genetic structure or sex ratio of captive populations of H. glaber. In this study, we developed a set of microsatellite markers to examine genetic variation in three captive zoo populations of H. glaber. We also studied sex ratio of these captive populations. Our goal was to determine levels of genetic variation within, and genetic differences between, captive populations of H. glaber. Overall, we found modest levels of genetic variation in zoo populations. We also uncovered little evidence for inbreeding within the captive populations. However, zoo populations did differ genetically, which may reflect the isolation of captive naked mole rat colonies. Finally, we found no evidence of biased sex ratios within colonies. Overall, our study documents levels of genetic variation and sex ratios in a captive eusocial mammalian population. Our results may provide insight into how to manage captive populations of H. glaber.


Assuntos
Variação Genética , Ratos-Toupeira/genética , Animais , Animais de Zoológico , Feminino , Genótipo , Masculino , Repetições de Microssatélites , Ratos-Toupeira/fisiologia , Razão de Masculinidade
10.
World J Microbiol Biotechnol ; 33(2): 33, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28074411

RESUMO

The filamentous Cyanobacterium Arthrospira is commercially produced and is a functional, high-value, health food. We identified 5 low temperature and low light intensity tolerant strains of Arthrospira sp. (GMPA1, GMPA7, GMPB1, GMPC1, and GMPC3) using ethyl methanesulfonate mutagenesis and low temperature screening. The 5 Arthrospira strains grew rapidly below 14 °C, 43.75 µmol photons m-2 s-1 and performed breed conservation at 2.5 °C, 8.75 µmol photons m-2 s-1. We used morphological identification and molecular genetic analysis to identify GMPA1, GMPA7, GMPB1 and GMPC1 as Arthrospira platensis, while GMPC3 was identified as Arthrospira maxima. Growth at different culture temperatures was determined at regular intervals using dry biomass. At 16 °C and 43.75 µmol photons m-2 s-1, the maximum dry biomass production and the mean dry biomass productivity of GMPA1, GMPB1, and GMPC1 were 2057 ± 80 mg l-1, 68.7 ± 2.5 mg l-1 day-1, 1839 ± 44 mg l-1, 60.6 ± 1.8 mg l-1 day-1, and 2113 ± 64 mg l-1, 77.7 ± 2.5 mg l-1 day-1 respectively. GMPB1 was chosen for additional low temperature tolerance studies and growth temperature preference. In winter, GMPB1 grew well at mean temperatures <10 °C, achieving 3258 mg dry biomass from a starting 68 mg. In summer, GMPB1 grew rapidly at mean temperatures more than 28 °C, achieving 1140 mg l-1 dry biomass from a starting 240 mg. Phytonutrient analysis of GMPB1 showed high levels of C-phycocyanin and carotenoids. Arthrospira metabolism relates to terpenoids, and the methyl-D-erythritol 4-phosphate pathway is the only terpenoid biosynthetic pathway in Cyanobacteria. The 1-deoxy-D-xylulose 5-phosphate reductoisomerase (DXR) gene from GMPB1 was cloned and phylogenetic analysis showed that GMPB1 is closest to the Cyanobacterium Oscillatoria nigro-viridis PCC711. Low temperature tolerant Arthrospira strains could broaden the areas suitable for cultivation, extend the seasonal cultivation time, and lower production costs.


Assuntos
Biomassa , Oscillatoria/crescimento & desenvolvimento , Oscillatoria/metabolismo , Terpenos/metabolismo , Temperatura Baixa , Luz , Mutagênese , Oscillatoria/genética , Filogenia , Alinhamento de Sequência
11.
Zoo Biol ; 36(1): 87-94, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27981608

RESUMO

Zoo conservation breeding programs manage the retention of population genetic diversity through analysis of pedigree records. The range of demographic and genetic indices determined through pedigree analysis programs allows the conservation of diversity to be monitored relative to the particular founder population for a species. Such approaches are based on a number of well-documented founder assumptions, however without knowledge of actual molecular genetic diversity there is a risk that pedigree-based measures will be misinterpreted and population genetic diversity misunderstood. We examined the genetic diversity of the captive populations of Grevy's zebra, Hartmann's mountain zebra and plains zebra in Japan and the United Kingdom through analysis of mitochondrial DNA sequences. Very low nucleotide variability was observed in Grevy's zebra. The results were evaluated with respect to current and historic diversity in the wild, and indicate that low genetic diversity in the captive population is likely a result of low founder diversity, which in turn suggests relatively low wild genetic diversity prior to recent population declines. Comparison of molecular genetic diversity measures with analogous diversity indices generated from the studbook data for Grevy's zebra and Hartmann's mountain zebra show contrasting patterns, with Grevy's zebra displaying markedly less molecular diversity than mountain zebra, despite studbook analysis indicating that the Grevy's zebra population has substantially more founders, greater effective population size, lower mean kinship, and has suffered less loss of gene diversity. These findings emphasize the need to validate theoretical estimates of genetic diversity in captive breeding programs with empirical molecular genetic data. Zoo Biol. 36:87-94, 2017. © 2016 Wiley Periodicals, Inc.


Assuntos
Animais de Zoológico , Cruzamento , Equidae/genética , Variação Genética , Criação de Animais Domésticos , Animais , Conservação dos Recursos Naturais , Linhagem
12.
Clin Genet ; 89(6): 678-89, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26748743

RESUMO

Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. A total of 120 probands were included, with a mean age of 50 years (SD = 18 years) and 70% were female. A total of 26 mutations in five genes (14 clearly pathogenic and 12 likely pathogenic) were identified in 49 probands (41%). Epithelial-stromal TGFBI dystrophies, macular corneal dystrophy and Schnyder corneal dystrophy (SCD) showed 100% mutation detection rates, while endothelial corneal dystrophies showed lower detection rates of 3%. Twenty six non-duplicate mutations including eight novel mutations were identified and mutations associated with SCD were identified genetically for the first time in this population. This study provides a comprehensive characterization of the genetic aberrations in Korean patients and also highlights the diagnostic value of molecular genetic analysis in corneal dystrophies.


Assuntos
Distrofias Hereditárias da Córnea/genética , Predisposição Genética para Doença/genética , Mutação , Adulto , Idoso , Povo Asiático/genética , Sequência de Bases , Colágeno Tipo VIII/genética , Distrofias Hereditárias da Córnea/etnologia , Análise Mutacional de DNA , Dimetilaliltranstransferase/genética , Saúde da Família , Feminino , Predisposição Genética para Doença/etnologia , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , República da Coreia , Sulfotransferases/genética , Fator de Crescimento Transformador beta/genética , Homeobox 1 de Ligação a E-box em Dedo de Zinco/genética , Carboidrato Sulfotransferases
13.
Mol Biol (Mosk) ; 49(5): 760-9, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26510593

RESUMO

To expand the informational capabilities of molecular genetic research, on the biological microchips, new indotricarbocyanine dyes that fluoresce in the near infrared (IR) spectral region have been synthesized. The developed IR dyes were studied using a biochip-based test system for detection of mutations in the BRCA1/BRCA2 and CHECK2 genes associated with breast cancer. The fluorescent label was introduced to the analyzed DNA during PCR using primers labeled with the synthesized IR dyes. An analyzer that allows recording and processing of images of fluorescent microarrays in the IR spectral region was designed and manufactured. It has been shown that the use of the synthesized dyes enables to conduct analysis in the IR region and improve the reliability of medical diagnostic tests due to low fluorescence intensity of sample components as well as of a biochip substrate and the reagents used for analysis.


Assuntos
Neoplasias da Mama/diagnóstico , Carbocianinas/síntese química , Corantes Fluorescentes/síntese química , Análise em Microsséries/métodos , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Proteína BRCA1/genética , Proteína BRCA1/metabolismo , Proteína BRCA2/genética , Proteína BRCA2/metabolismo , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carbocianinas/metabolismo , Quinase do Ponto de Checagem 2/genética , Quinase do Ponto de Checagem 2/metabolismo , Primers do DNA/síntese química , Primers do DNA/genética , Feminino , Corantes Fluorescentes/metabolismo , Expressão Gênica , Humanos , Raios Infravermelhos , Dispositivos Lab-On-A-Chip , Análise em Microsséries/instrumentação , Mutação , Análise de Sequência com Séries de Oligonucleotídeos/instrumentação , Reação em Cadeia da Polimerase/métodos
14.
Animals (Basel) ; 14(16)2024 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-39199833

RESUMO

BACKGROUND: A total of 396 samples were taken from the hearts, oesophagi, and diaphragms of 132 horses slaughtered at slaughterhouses in 2023 for subsequent examination. METHODS: The histological method revealed pathomorphological changes in the muscle tissue. The molecular method identified the pathogen species. RESULTS: Histological examination revealed thick-walled cysts with internal septa and numerous bradyzoites, and mononuclear inflammatory cells with pericyst infiltrates. Microcyst samples were amplified by polymerase chain reaction. Molecular genetic analysis allowed for the identification of 18 sarcocysts. Phylogenetic analysis of Sarcocystis isolates revealed three separate clades of Sarcocystis bertrami and two separate clades of Sarcocystis fayeri. Comparison and phylogenetic analysis revealed a very close relationship between the identified Sarcocystis species and other equine Sarcocystis DNA sequences from China and Japan. Based on the results obtained, the epizootic situation and the parasitic level of sarcocystosis contamination of horses in the northern Kazakhstan were determined. CONCLUSION: This is the first histological and molecular study to identify Sarcocystis spp. isolated from microscopic forms of equine sarcocysts in the northern Kazakhstan. This research will contribute to the fight against the spread of sarcocystosis in the Republic of Kazakhstan and will allow us to develop proposals for improving the mechanisms of sarcocystosis control.

15.
Genes (Basel) ; 14(9)2023 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-37761907

RESUMO

Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors. A low level of FVII could also be a result of FVII deficiency (MIM# 227500), the rare autosomal recessive inherited disease caused by pathogenic variants in the F7 gene. The aim of this study was to describe a mutation spectrum of the F7 gene and genotype-phenotype relationship in patients with FVII deficiency in Russia for the first time. We studied the primary structure of the F7 gene of 54 unrelated patients with FVII deficiency by direct Sanger sequencing. Pathogenic variants in the F7 gene were detected in 37 (68.5%) of them. We identified 24 different mutations located mostly in the serine protease domain. Five pathogenic variants had never been reported before. A major mutation in the Russian population was c.1391delC (p. Pro464Hisfs*32), linked with rs36209567 and rs6046 functional polymorphisms, that is widely distributed in East Europe. As in other countries, the F7 genotypes poorly correlated with the severity of clinical manifestations but were quite well associated with FVII levels. Minor alleles of functional polymorphisms rs510335, rs5742910, rs561241, rs36209567, and rs6046 could also participate in the F7 genotype and influence FVII levels.


Assuntos
Fatores de Coagulação Sanguínea , Biologia Molecular , Humanos , Alelos , Genótipo , Federação Russa
16.
Toxics ; 11(6)2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-37368581

RESUMO

The long-term storage of unutilized pesticides raised new problems of long-term environmental contamination. The study presents the results of surveying 151 individuals in 7 villages living close to pesticide-contaminated localities. All individuals have been surveyed concerning their consumption habits and lifestyle characteristics. An assessment of the general exposure risks of the local population was carried out using the analysis of pollutants in food products and the average levels of their consumption in the region. The cohort risk evaluation revealed that the greatest risk was associated with the regular consumption of cucumbers, pears, bell peppers, meat, and milk. The new model to estimate individual risks of long-term pesticide pollution was proposed as a calculation of the combined action of 9 risk factors, including individual genotypes, age, lifestyle, and personal pesticide consumption rates. The analysis of the predictive ability of this model showed that the final score for individual health risks corresponded to the development of chronic diseases. A high level of chromosomal aberrations was evidenced for individual genetic risk manifestations. The combined influence of all risk factors revealed contributions of 24.7% for health status and 14.2% for genetic status, while other impacts go to all unaccounted factors.

17.
Curr Protoc ; 3(7): e825, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37428889

RESUMO

This article contains detailed protocols for the simultaneous flow cytometric identification of tumor cells and stromal cells and measurement of DNA content of formalin-fixed, paraffin-embedded (FFPE) tissues. The vimentin-positive stromal cell fraction can be used as an internal reference for accurate DNA content assessments of FFPE carcinoma tissues. This allows clear detection of keratin-positive tumor cells with a DNA index lower than 1.0 (near-haploidy) and of keratin-positive tumor cells with a DNA index close to 1.0 in overall DNA aneuploid samples, thus improving DNA ploidy assessment in FFPE carcinomas. Furthermore, the protocol is useful for studying molecular genetic alterations and intratumor heterogeneity in archival FFPE samples. Keratin-positive tumor cell fractions can be sorted for further molecular genetic analysis, while DNA from the sorted vimentin-positive stromal cells can serve as a reference when normal tissue of the patient is not available. © 2023 The Authors. Current Protocols published by Wiley Periodicals LLC. Basic Protocol: Multiparameter DNA content analysis of FFPE carcinomas Alternate Protocol 1: Immunocytochemistry for keratin and vimentin, and DNA labeling for blue and red excitation Alternate Protocol 2: Immunocytochemistry for keratin and vimentin, and DNA labeling for blue excitation Support Protocol: Sorting cell population from FFPE carcinomas.


Assuntos
Carcinoma , Ploidias , Humanos , Citometria de Fluxo/métodos , Vimentina/genética , Inclusão em Parafina , DNA/genética , DNA/análise , Queratinas/genética , Queratinas/análise
18.
Children (Basel) ; 10(7)2023 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-37508702

RESUMO

Bibliometric studies on inherited metabolic diseases (IMDs) do not exist in the literature. Therefore, our research aims to conduct a bibliometric study to determine the current status, trending topics, and missing points of publications on IMDs. Between 1968 and 2023, we conducted a literature search with the keyword "inherited metabolic disease" in the SCOPUS database. We included research articles in medicine written in English and published in the final section. We created our data pool using VOSviewer, SciMAT, and Rstudio software programs for the bibliometric parameters of the articles that met the inclusion criteria. We performed a bibliometric analysis of the data with the R package "bibliometrix" and BibExcel programs. We included 2702 research articles published on IMDs. The top three countries that have written the most articles in this field are the USA (n = 501), the United Kingdom (n = 182), and China (n = 172). The most preferred keywords by the authors were: newborn screening (n = 54), mutation (n = 43), phenylketonuria (n = 42), children (n = 35), genetics (n = 34), and maple syrup urine disease (n = 32). Trending topics were osteoporosis, computed tomography, bone marrow transplantation in the early years of the study, chronic kidney disease, urea cycle disorders, next-generation sequencing, newborn screening, and familial hypercholesterolemia in the final years of the study. This study provides clinicians with a new perspective, showing that molecular and genetic studies of inherited metabolic diseases will play an essential role in diagnosis and treatment in the future.

19.
Vopr Virusol ; 68(4): 302-314, 2023 Sep 21.
Artigo em Russo | MEDLINE | ID: mdl-38156587

RESUMO

INTRODUCTION: Up-to-date data and full characterization of circulating ASFV isolates play a crucial role in virus eradication and control in endemic regions and countries. The aim of the study was to evaluate and characterize the molecular and biological properties of the ASFV isolate ASF/Tatarstan 20/WB-12276, conduct phylogenetic analysis, and compare the results with isolates circulating in Europe and Asia. MATERIALS AND METHODS: For bioassay, eight heads of the Large White pigs weighing 15-20 kg/head were used. Detection of specific anti-ASFV antibodies by ELISA and immunoperoxidase method. Detection of ASFV genome was performed by qPCR. Isolation of ASF/Tatarstan 20/WB-12276 and determination of titer were performed in pig spleen cell culture. Sequencing was carried out by the Sanger method. RESULTS: The virus was characterized as highly virulent and capable of causing acute to subacute forms of ASF. Phylogenetic analysis revealed substitutions in the genome of the ASF/Tatarstan 20/WB-12276 isolate (IGR/I73R-I329L and I267L markers) that supported the clustering of the studied variant with isolates prevalent in most of Europe and Asia. CONCLUSION: For the first time, the molecular and biological properties of the ASF/Tatarstan 20/WB-12276 virus isolate taken from a wild boar shot on the territory of the Republic of Tatarstan were studied and analyzed.


Assuntos
Vírus da Febre Suína Africana , Febre Suína Africana , Suínos , Animais , Vírus da Febre Suína Africana/genética , Sus scrofa , Asfarviridae , Tartaristão , Filogenia
20.
Vavilovskii Zhurnal Genet Selektsii ; 27(8): 958-970, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38239965

RESUMO

Substitution lines of the cotton Gossypium hirsutum L. involving chromosomes of the tetraploid species G. barbadense L., G. tomentosum Nutt. ex Seem., and G. mustelinum Miers ex Watt. are a valuable source for breeding, increasing the genetic diversity of G. hirsutum. The substitution of certain G. hirsutum L. chromosomes with G. barbadense chromosomes affect fibre elongation, fibre yield, fibre strength, and micronaire. To increase the efficiency of creating lines, it is necessary to study the nature of the introgression of alien chromosomes into the G. hirsutum L. genome. As a result of molecular genetic analysis of BC2F1 hybrids obtained from crossing monosomic lines of the cotton G. hirsutum from the cytogenetic collection of Uzbekistan with monosomic backcross hybrids BC1F1 G. hirsutum × G. barbadense on the same chromosomes, genetic differences between the hybrids in the profile of chromosome-specific microsatellite SSR markers were found. The predominant introgression of chromosomes 4, 6 and 12 of the At-subgenome and 22 of the Dt-subgenome of G. barbadense was revealed, while chromosomes 2 and 7 of the At-subgenome and 18 of the Dt- subgenome of G. barbadense were characterized by elimination. Among them, chromosomes 7 of the At- subgenome and 18 of the Dt-subgenome of G. barbadense were eliminated in the first backcross generation. In this work, two lines, CS- B06 and CS-B07, from the American cytogenetic collection with a putative substitution involving chromosomes 6 and 7 of the At-subgenome were analysed. The presence of only polymorphic alleles from the species G. hirsutum and the absence of polymorphic alleles from the species G. barbadense were revealed, which showed the absence of substitution involving these chromosomes. BC2F1 hybrids with monosomy for both G. barbadense and G. hirsutum chromosomes were characterized by regular pairing of chromosomes and high meiotic indexes. However, many hybrids were characterized by a decrease in pollen fertility. Two hybrids with monosomy for chromosome 7 of the At-subgenome of G. hirsutum and chromosome 6 of the At-subgenome of G. barbadense had the greatest reduction in pollen viability (70.09 ± 1.57 and 75.00 ± 1.66 %, respectively). Thus, this work shows a specific feature in the introgression of individual chromosomes of the cotton species G. barbadense into the cotton G. hirsutum genome.

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