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1.
Life (Basel) ; 14(4)2024 Apr 11.
Article in English | MEDLINE | ID: mdl-38672767

ABSTRACT

This study aimed to provide an overview of the methodological approach used for the species determination of big cats. The molecular system described herein employs mitochondrial DNA control region (CR-mtDNA)-length polymorphism in combination with highly sensitive and precise capillary electrophoresis. We demonstrated that the described CR-mtDNA barcoding system can be utilized for species determination where the presence of biological material from big cats is expected or used as a confirmatory test alongside Sanger or massive parallel sequencing (MPS). We have also addressed the fact that species barcoding, when based on the analysis of mtDNA targets, can be biased by nuclear inserts of the mitochondrial genome (NUMTs). The CR-mtDNA barcoding system is suitable even for problematic and challenging samples, such as hair. CR-mtDNA-length polymorphisms can also distinguish hybrids from pure breeds.

2.
Mol Biol Rep ; 51(1): 521, 2024 Apr 16.
Article in English | MEDLINE | ID: mdl-38625438

ABSTRACT

Acute myeloid leukaemia (AML) is a complex haematological malignancy characterised by diverse genetic alterations leading to abnormal proliferation of myeloid precursor cells. One of the most significant genetic alterations in AML involves mutations in the FLT3 gene, which plays a critical role in haematopoiesis and haematopoietic homeostasis. This review explores the current understanding of FLT3 gene mutations and isoforms and the importance of the FLT3 protein in AML. FLT3 mutations, including internal tandem duplications (FLT3-ITD) and point mutations in the tyrosine kinase domain (FLT3-TKD), occur in 25-30% in AML and are associated with poor prognosis. FLT3-ITD mutations lead to constitutive activation of the FLT3 signalling pathway, promoting cell survival and proliferation. FLT3-TKD mutations affect the tyrosine kinase domain and affect AML prognosis in various ways. Furthermore, FLT3 isoforms, including shorter variants, contribute to the complexity of FLT3 biology. Additionally, nonpathological polymorphisms in FLT3 are being explored for their potential impact on AML prognosis and treatment response. This review also discusses the development of molecular treatments targeting FLT3, including first-generation and next-generation tyrosine kinase inhibitors, highlighting the challenges of resistance that often arise during therapy. The final chapter describes FLT3 protein domain rearrangements and their relevance to AML pathogenesis.


Subject(s)
Leukemia, Myeloid, Acute , Humans , Protein Isoforms/genetics , Leukemia, Myeloid, Acute/genetics , Cell Survival , Mutation/genetics , Protein-Tyrosine Kinases , fms-Like Tyrosine Kinase 3/genetics
3.
Pediatr Neonatol ; 64(5): 495-504, 2023 09.
Article in English | MEDLINE | ID: mdl-37453902

ABSTRACT

This article compares two important pathophysiological states, Kawasaki disease, and multisystem inflammatory syndrome, in children associated with COVID-19 (MIS-C). Both occur predominantly in children, have a temporal association with an infectious agent, and are associated with immune-system alteration and systemic inflammation under certain circumstances. The two share common pathophysiology, including enhancement of interleukin-1 neutrophils, activation of the inflammasome, pyroptosis, or NETosis. Moreover, the clinical presentation of the diseases overlaps. However, they are indeed two separate diseases, proven by the differences in the epidemiological and etiological aspects and the pathophysiological processes involved in the development and frequency of some clinical signs. This article highlights potentially exciting areas that have not yet been studied in detail, which could help better understand the development of these diseases.


Subject(s)
COVID-19 , Mucocutaneous Lymph Node Syndrome , Child , Humans , Mucocutaneous Lymph Node Syndrome/diagnosis , Systemic Inflammatory Response Syndrome , Inflammation
4.
Environ Sci Pollut Res Int ; 26(23): 23429-23441, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31201702

ABSTRACT

Polycyclic aromatic hydrocarbons (PAHs), polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs) are ubiquitous and toxic contaminants. Their atmospheric deposition fluxes on the regional scale were quantified based on simultaneous sampling during 1 to 5 years at 1 to 6 background/rural sites in the Czech Republic and Austria. The samples were extracted and analysed by means of gas chromatography coupled to mass spectrometry. For all seasons and sites, total deposition fluxes for Σ15PAHs ranged 23-1100 ng m-2 d-1, while those for Σ6PCBs and Σ12OCPs ranged 64-4400 and 410-7800 pg m-2 d-1, respectively. Fluoranthene and pyrene were the main contributors to the PAH deposition fluxes, accounting on average for 19% each, while deposition fluxes of PCBs and OCPs were dominated by PCB153 (26%) and γ-hexachlorobenzene (30%), respectively. The highest deposition flux of Σ15PAHs was generally found in spring, while no seasonality was found for PCB deposition. For deposition fluxes for Σ12OCPs, no clear spatial trend was found, confirming the perception of long-lived regional pollutants. Although most OCPs and PCBs hardly partition to the particulate phase in ambient air, on average, 42% of their deposition fluxes were found on filters, confirming the perception that particle deposition is more efficient than dry gaseous deposition. Due to methodological constraints, fluxes derived from bulk deposition samplers should be understood as lower estimates, in particular with regard to those substances which in ambient aerosols mostly partition to the particulate phase.


Subject(s)
Air Pollutants/analysis , Environmental Monitoring , Polycyclic Aromatic Hydrocarbons/analysis , Austria , Czech Republic , Europe , Gas Chromatography-Mass Spectrometry , Hexachlorobenzene/analysis , Hydrocarbons, Chlorinated/analysis , Pesticides/analysis , Polychlorinated Biphenyls/analysis
5.
Ecotoxicol Environ Saf ; 143: 136-142, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28528316

ABSTRACT

PBDEs and PCBs are toxic, persistent organic pollutants (POPs), and the use of PCBs is forbidden, but they are still present in many environments and biota. 90-day assays were conducted with the moss Pleurozium schreberi transplanted from an uncontaminated control site to ten sites (rural and urban) selected in one of the most polluted regions of Upper Silesia in Poland. Native P. schreberi mosses were collected from the same ten polluted sites. Concentrations of PBDEs (28, 47, 66, 85, 99, 100, 153, 154, 183 and 209) and PCBs (28, 52, 101, 118, 138, 153, 180) were determined in all native and transplanted P. schreberi from all sites. Native P. schreberi contained the highest ΣPBDE and ΣPCB levels (63.6ngg-1 and 4.47pgg-1, respectively) when collected in the vicinity of a steel smelter. After 90 days of the experiment native and transplanted P. schreberi contained the highest concentrations of the same BDE 209 congener (88-91% of total PBDEs in the native mosses and 85-90% of the total PBDE burden in the transplants). The native and transplanted mosses from the industrial sites after 90 days of exposure contained significantly higher concentrations of all the examined PBDE and PCB congeners (except for 153 and 180) than mosses from rural sites. PBDE and PCB values were higher in native than in transplanted mosses after 90 days of exposure in both rural and industrial sites.


Subject(s)
Bryopsida/chemistry , Halogenated Diphenyl Ethers/analysis , Polychlorinated Biphenyls/analysis , Environmental Monitoring , Poland
6.
Sci Total Environ ; 553: 532-540, 2016 May 15.
Article in English | MEDLINE | ID: mdl-26938316

ABSTRACT

Soil contamination with PCBs and PAHs in adjacent forest plots, characterized by a distinct composition in tree species (spruce only, mixed and beech only), was analyzed to investigate the influence of ecosystem type on contaminant mobility in soil under very similar climate and exposure conditions. Physical-chemical properties and contaminant concentrations in litter (L), organic (F, H) and mineral (A, B) soil horizons were analyzed. Contaminant distribution in the soil core varied both in relation to forest type and contaminant group/properties. Contaminant mobility in soil was assessed by examining the ratios of total organic carbon (TOC)-standardized concentrations across soil horizons (Enrichment factors, EFTOC) and the relationship between EFTOC and the octanol-water equilibrium partitioning coefficient (KOW). Contaminant distribution appeared to be highly unsteady, with pedogenic/biogeochemical drivers controlling contaminant mobility in organic layers and leaching controlling accumulation in mineral layers. Lighter PCBs displayed higher mobility in all forest types primarily controlled by leaching and, to a minor extent, diffusion. Pedogenic processes controlling the formation of soil horizons were found to be crucial drivers of PAHs and heavier PCBs distribution. All contaminants appeared to be more mobile in the soil of the broadleaved plot, followed by mixed canopy and spruce forest. Increasing proportion of deciduous broadleaf species in the forest can thus lead to faster degradation or the faster leaching of PAHs and PCBs. The composition of humic substances was found to be a better descriptor of contaminant concentration than TOC.


Subject(s)
Environmental Monitoring , Forests , Volatile Organic Compounds/metabolism , Polychlorinated Biphenyls/analysis , Polychlorinated Biphenyls/metabolism , Polycyclic Aromatic Hydrocarbons/analysis , Polycyclic Aromatic Hydrocarbons/metabolism , Soil/chemistry , Trees/classification , Trees/metabolism , Volatile Organic Compounds/analysis
7.
Article in English | MEDLINE | ID: mdl-26259715

ABSTRACT

Polybrominated diphenyl ethers (PBDEs) are persistent xenobiotics with harmful effects on humans and wildlife. Their levels in the environment and accumulation in biota must be carefully controlled especially in species harvested from wild populations and commonly used as medicines. Our objective has been to determine PBDE concentrations (BDEs 28, 47, 66, 85, 99, 100, 153, 154, 183 and 209) in Centaurium erythraea collected at sites with various levels of environmental pollution. PBDE congener profiles in C. erythraea were dominated by BDE209, which accounted for 47-89% of the total PBDE burden in the plants. Principal Component and Classification Analysis, which classifies the concentration of PBDEs in C. erythraea, allowed us to distinguish the pattern of these compounds characteristic for the origin of pollution: BDEs 28, 47, 66, 85, 99, 100 for lignite and general chemical industry and the vicinity of an expressway and BDEs 183 and 209 for a thermal power plant and ferrochrome smelting industry. Careful selection of sites with C. erythraea for medicinal purposes is necessary as this herb can accumulate PBDEs while growing at polluted sites.


Subject(s)
Centaurium/chemistry , Environmental Monitoring/methods , Environmental Pollution/analysis , Halogenated Diphenyl Ethers/analysis , Coal/analysis , Humans , Polybrominated Biphenyls/analysis , Power Plants , Principal Component Analysis
8.
Mar Pollut Bull ; 95(1): 480-3, 2015 Jun 15.
Article in English | MEDLINE | ID: mdl-25963572

ABSTRACT

PBDEs (10 congeners) were analyzed using GC-MS in superficial sediments and organisms of the Concepción Bay after the 2010 Tsunami. From all congeners analyzed PBDE-47, -99, -100 and -209 were the most frequently detected. Concentrations (ngg(-1) d.w.) in sediments for ΣPBDE-47, -99, -100 were low (0.02-0.09). However, PBDE-209 showed significantly higher values ∼20ngg(-1) d.w. This result were ∼10 times lower than those reported in a previous study of the 2010 Tsunami. The high result might be influenced by the massive urban debris dragged by the 2010 Tsunami. In organisms, concentrations of PBDE-47, -99, -100 (∼0.4ngg(-1) d.w.) were higher than those found in sediments (∼0.04ngg(-1) d.w.). Differences in PBDE pattern were also observed between different levels of the trophic food chain (primary and secondary consumers). This is the first attempt to assess the current status of Concepción Bay after the 2010 Tsunami.


Subject(s)
Environmental Monitoring , Halogenated Diphenyl Ethers/analysis , Tsunamis , Water Pollutants, Chemical/analysis , Bays/chemistry , Chile , Gas Chromatography-Mass Spectrometry
9.
Sci Total Environ ; 514: 211-8, 2015 May 01.
Article in English | MEDLINE | ID: mdl-25666281

ABSTRACT

European herring gull (Larus argentatus) eggs from two Norwegian islands, Musvær in the south east and Reiaren in Northern Norway, were screened for dioxins, furans, and dioxin-like and selected non-dioxin-like polychlorinated biphenyls (PCBs), and subjected to non-target analysis to try to identify the aryl hydrocarbon receptor (AhR) agonists, responsible for elevated levels measured using the dioxin responsive chemically activated luciferase expression (DR-CALUX) assay. Eggs from Musvær contained chemically calculated toxic equivalent (WHO TEQ) levels of between 109 and 483 pg TEQ/g lw, and between 82 and 337 pg TEQ/g lw was determined in eggs from Reiaren. In particular PCB126 contributed highly to the total TEQ (69-82%). In 19 of the 23 samples the calculated WHO TEQ was higher than the TEQCALUX. Using CALUX specific relative effect potencies (REPs), the levels were lower at between 77 and 292 pg/g lw in eggs from Musvær and between 55 and 223 pg/g lw in eggs from Reiaren, which was higher than the TEQCALUX in 16 of the 23 samples. However, the means of the REP values and the TEQCALUX were not significantly different. This suggests the presence of compounds that can elicit antagonist effects, with a low binding affinity to the AhR. Non-target analysis identified the presence of hexachlorobenzene (HCB) (quantified at 9.6-185 pg/g lw) but neither this compound nor high concentrations of PCB126 and non-dioxin-like PCBs could explain the differences between the calculated TEQ or REP values and the TEQCALUX. Even though, for most AhR agonists, the sensitivity of herring gulls is not known, the reported levels can be considered to represent a risk for biological effects in the developing embryo, compared to LC50 values in chicken embryos. For human consumers of herring gull eggs, these eggs contain TEQ levels up to four times higher than the maximum tolerable weekly intake.


Subject(s)
Charadriiformes/metabolism , Environmental Monitoring/methods , Environmental Pollutants/metabolism , Ovum/chemistry , Receptors, Aryl Hydrocarbon/metabolism , Animals , Biomarkers/metabolism , Dioxins/analysis , Dioxins/metabolism , Eggs , Environmental Pollutants/analysis , Norway , Ovum/metabolism
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