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1.
Fetal Diagn Ther ; : 1-10, 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38815555

RESUMO

INTRODUCTION: This study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the nuchal translucency (NT) range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing. METHODS: A retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased first trimester combined test (CT) risk in five cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed. RESULTS: A chromosomal aberration was identified in 18.8% fetuses (1:5; 51/271). In 15% (41/271) of cases, trisomy 21, 18, or 13 were found. In 0.7% (2/271) of cases, sex chromosome aneuploidy was found. In 1.1% (3/271) of cases, CNV >10 Mb was detected, which would potentially also be detected by genome-wide cfDNA testing. The residual risk for missing a submicroscopic chromosome aberration in the presented cohorts is 1.8% (1:54; 5/271). CONCLUSION: Our results indicate that a significant number of fetuses with increased CT risk and presenting NT of 3.0-3.4 mm carry a clinically relevant chromosomal abnormality other than common trisomy. Invasive testing should be offered, and counseling on NIPT should include the test limitations that may result in NIPT false-negative results in a substantial percentage of fetuses.

2.
Molecules ; 29(13)2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-38999009

RESUMO

Skin aging is an inevitable and intricate process instigated, among others, by oxidative stress. The search for natural sources that inhibit this mechanism is a promising approach to preventing skin aging. The purpose of our study was to evaluate the composition of phenolic compounds in the micellar extract of Phaseolus vulgaris sprouts. The results of a liquid chromatography-mass spectrometry (LC-MS) analysis revealed the presence of thirty-two constituents, including phenolic acids, flavanols, flavan-3-ols, flavanones, isoflavones, and other compounds. Subsequently, the extract was assessed for its antioxidant, anti-inflammatory, anti-collagenase, anti-elastase, anti-tyrosinase, and cytotoxic properties, as well as for the evaluation of collagen synthesis. It was demonstrated that micellar extract from common bean sprouts has strong anti-aging properties. The performed WST-8 (a water-soluble tetrazolium salt) assay revealed that selected concentrations of extract significantly increased proliferation of human dermal fibroblasts compared to the control cells in a dose-dependent manner. A similar tendency was observed with respect to collagen synthesis. Our results suggest that micellar extract from Phaseolus vulgaris sprouts can be considered a promising anti-aging compound for applications in cosmetic formulations.


Assuntos
Antioxidantes , Fibroblastos , Phaseolus , Compostos Fitoquímicos , Extratos Vegetais , Phaseolus/química , Humanos , Compostos Fitoquímicos/farmacologia , Compostos Fitoquímicos/química , Extratos Vegetais/farmacologia , Extratos Vegetais/química , Antioxidantes/farmacologia , Antioxidantes/química , Fibroblastos/efeitos dos fármacos , Envelhecimento da Pele/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/química
3.
Curr Issues Mol Biol ; 45(5): 4431-4450, 2023 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-37232751

RESUMO

Rapeseed is one of the most important oil crops in the world. Increasing demand for oil and limited agronomic capabilities of present-day rapeseed result in the need for rapid development of new, superior cultivars. Double haploid (DH) technology is a fast and convenient approach in plant breeding as well as genetic research. Brassica napus is considered a model species for DH production based on microspore embryogenesis; however, the molecular mechanisms underlying microspore reprogramming are still vague. It is known that morphological changes are accompanied by gene and protein expression patterns, alongside carbohydrate and lipid metabolism. Novel, more efficient methods for DH rapeseed production have been reported. This review covers new findings and advances in Brassica napus DH production as well as the latest reports related to agronomically important traits in molecular studies employing the double haploid rapeseed lines.

4.
Int J Mol Sci ; 24(12)2023 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-37373441

RESUMO

Chronic wounds, among others, are mainly characterized by prolonged inflammation associated with the overproduction of reactive oxygen species and pro-inflammatory cytokines by immune cells. As a consequence, this phenomenon hinders or even precludes the regeneration process. It is known that biomaterials composed of biopolymers can significantly promote the process of wound healing and regeneration. The aim of this study was to establish whether curdlan-based biomaterials modified with hop compounds can be considered as promising candidates for the promotion of skin wound healing. The resultant biomaterials were subjected to an evaluation of their structural, physicochemical, and biological in vitro and in vivo properties. The conducted physicochemical analyses confirmed the incorporation of bioactive compounds (crude extract or xanthohumol) into the curdlan matrix. It was found that the curdlan-based biomaterials improved with low concentrations of hop compounds possessing satisfactory hydrophilicity, wettability, porosity, and absorption capacities. In vitro, tests showed that these biomaterials were non-cytotoxic, did not inhibit the proliferation of skin fibroblasts, and had the ability to inhibit the production of pro-inflammatory interleukin-6 by human macrophages stimulated with lipopolysaccharide. Moreover, in vivo studies showed that these biomaterials were biocompatible and could promote the regeneration process after injury (study on Danio rerio larvae model). Thus, it is worth emphasizing that this is the first paper demonstrating that a biomaterial based on a natural biopolymer (curdlan) improved with hop compounds may have biomedical potential, especially in the context of skin wound healing and regeneration.


Assuntos
Hidrogéis , beta-Glucanas , Humanos , Hidrogéis/farmacologia , Hidrogéis/química , Cicatrização , Materiais Biocompatíveis/farmacologia , beta-Glucanas/farmacologia , Biopolímeros , Pele
5.
Int J Mol Sci ; 24(11)2023 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-37298138

RESUMO

The treatment of acne and other seborrheic diseases has arisen as a significant clinical challenge due to the increasing appearance of multi-drug resistant pathogens and a high frequency of recurrent lesions. Taking into consideration the fact that some Knautia species are valuable curatives in skin diseases in traditional medicine, we assumed that the thus far unstudied species K. drymeia and K. macedonica may be a source of active substances used in skin diseases. The purpose of this study was to evaluate the antioxidant, anti-inflammatory, antibacterial, and cytotoxic activities of their extracts and fractions. An LC-MS analysis revealed the presence of 47 compounds belonging to flavonoids and phenolic acids in both species while the GC-MS procedure allowed for the identification mainly sugar derivatives, phytosterols, and fatty acids and their esters. The ethanol as well as methanol-acetone-water (3:1:1) extracts of K. drymeia (KDE and KDM) exhibited great ability to scavenge free radicals and good capacity to inhibit cyclooxygenase-1, cyclooxygenase-2, and lipoxygenase. Moreover, they had the most favorable low minimal inhibitory concentration values against acne strains, and importantly, they were non-toxic toward normal skin fibroblasts. In conclusion, K. drymeia extracts seem to be promising and safe agents for further biomedical applications.


Assuntos
Dipsacaceae , Dermatopatias , Humanos , Extratos Vegetais/química , Antibacterianos/farmacologia , Medicina Tradicional , Antioxidantes/farmacologia , Antioxidantes/química
6.
Am J Med Genet A ; 188(6): 1848-1852, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35199468

RESUMO

This is the first report of the concurrent development of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and Crigler-Najjar syndrome type 1 (CNs1) inherited via uniparental disomy of chromosome 2, which are both autosomal recessive pathologies. Through an expanded newborn metabolic panel, a male infant was identified as having an acylcarnitine pattern typical for LCHADD, later confirmed to be caused by a well-characterized pathogenic variant in the HADHA gene located at 2p23. Prolonged non-hematologic jaundice requiring repetitive phototherapy prompted further genetic analysis, leading to the identification of another genetic abnormality consistent with CNs1, which was caused by a novel pathogenic variant in the UGT1A1 gene located at 2q37. The two identified point mutations in chromosome 2 were homozygous and present on separate arms, which indicated potential uniparental disomy. Microarray analysis of the genetic material from the patient and his parents confirmed paternal isodisomy of chromosome 2. Further studies are needed to identify other possible pathogenic variants located on the same defective chromosome, evaluate the combined effect of the two metabolic abnormalities, and plan the best possible treatment and care.


Assuntos
Síndrome de Crigler-Najjar , Cardiomiopatias , Cromossomos Humanos Par 2/genética , Síndrome de Crigler-Najjar/genética , Humanos , Lactente , Recém-Nascido , Erros Inatos do Metabolismo Lipídico , Masculino , Miopatias Mitocondriais , Proteína Mitocondrial Trifuncional/deficiência , Doenças do Sistema Nervoso , Rabdomiólise , Dissomia Uniparental/genética
7.
Molecules ; 27(4)2022 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-35209048

RESUMO

The aim of the present study was to investigate the phenolic composition and the biological properties of different Aerva lanata (L). Juss. herb extracts obtained with the use of accelerated solvent extraction (ASE), i.e., a green, ecological method, for cosmetic purposes. All samples exhibited high DPPH• (9.17-119.85 mg TE/g) and ABTS•+ (9.90-107.58 mg TE/g) scavenging activity. The extracts exhibited considerable anti-lipoxygenase (EC50 between 1.14 mg/mL and 3.73 mg/mL) and anti-xanthine oxidase (EC50 between 1.28 mg/mL and 3.72 mg/mL) activities, moderate chelating activity (EC50 between 1.58 mg/mL and 5.30 mg/mL), and high antioxidant potential in the ORAC assay (0.36-3.84 mM TE/g). Changes in the polyphenol profile of the analysed samples depending on the solvent and temperature used for the extraction were determined with the liquid chromatography/electrospray mass spectrometry (LC-ESI-MS/MS) method. Twenty-one phenolic compounds, including flavonoids and phenolic acids, were detected and quantified. It was shown that tiliroside was one of the main phenolic metabolites in the A. lanata (L.) Juss. herb., which may suggest that this compound may be largely responsible for the observed anti-inflammatory activity of the extracts. In addition, the studied extracts exhibited promising skin-related (anti-tyrosinase, anti-elastase, anti-collagenase, and anti-hyaluronidase) activity. This study showed that Aerva lanata (L.) Juss. contains high amounts of phenolic compounds, including tiliroside, and has good skin-related activities. Therefore, the plant may be interesting as a novel source of bioactive agents for cosmetic industries.


Assuntos
Amaranthaceae/química , Anti-Inflamatórios/química , Cosméticos/química , Inibidores Enzimáticos/química , Extratos Vegetais/química , Polifenóis/química
8.
Molecules ; 27(23)2022 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-36500338

RESUMO

Plant extracts are increasingly tested for their biological activity and interactions with neoplastic cells. One of such sources of biologically active substances is propolis. This product has been known for thousands of years and is widely used in alternative, folk medicine. Articles describing its effects on the metabolism and cell signaling pathways of neoplastic cells derived from different organs are also published more and more frequently. The purpose of our study was to evaluate the biological activity of propolis extract produced with the cold separation method into hormone-dependent and hormone-independent prostate cancer cell lines. In our study, the propolis extracts showed at least an inhibitory effect on the growth of PC-3 and DU-145 neoplastic cells. Our results suggest that propolis extracts obtained with the cold separation method may be considered as promising compounds for the production of health-promoting supplements.


Assuntos
Própole , Neoplasias da Próstata , Masculino , Humanos , Própole/farmacologia , Proliferação de Células , Extratos Vegetais/farmacologia , Neoplasias da Próstata/tratamento farmacológico , Linhagem Celular , Hormônios/farmacologia
9.
Molecules ; 27(3)2022 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-35163884

RESUMO

Liquid chromatography electrospray ionization tandem mass spectrometric (LC-ESI-MS/MS) qualitative and quantitative analysis of different extracts from the aerial parts and roots of Alchemilla acutiloba led to the identification of phenolic acids and flavonoids. To the best of our knowledge, isorhamnetin 3-glucoside, kaempferol 3-rutinoside, narcissoside, naringenin 7-glucoside, 3-O-methylquercetin, naringenin, eriodictyol, rhamnetin, and isorhamnetin were described for the first time in Alchemilla genus. In addition, the antioxidant, anti-inflammatory and cytotoxic activity of all extracts were evaluated. The results clearly showed that among analyzed extracts, the butanol extract of the aerial parts exhibited the highest biological activity comparable with the positive controls used.


Assuntos
Alchemilla/química , Anti-Inflamatórios/farmacologia , Antioxidantes/farmacologia , Citotoxinas/farmacologia , Flavonoides/farmacologia , Fenóis/análise , Extratos Vegetais/análise , Animais , Cromatografia Líquida , Flavonoides/análise , Haplorrinos , Rim/efeitos dos fármacos , Rim/patologia , Extratos Vegetais/farmacologia , Espectrometria de Massas por Ionização por Electrospray , Espectrometria de Massas em Tandem
10.
Molecules ; 27(9)2022 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-35566257

RESUMO

This study aimed to evaluate the phenolic profile and biological activity of the extracts from the leaves and fruits of Cotoneaster nebrodensis and Cotoneaster roseus. Considering that miscellaneous species of Cotoneaster are thought to be healing in traditional Asian medicine, we assumed that this uninvestigated species may reveal significant therapeutic properties. Here, we report the simultaneous assessment of chemical composition as well as biological activities (antioxidant, anti-inflammatory, antibacterial, and cytotoxic properties) of tested species. Complementary LC-MS analysis revealed that polyphenols (especially flavonoids and proanthocyanidins) are the overriding phytochemicals with the greatest significance in tested biological activities. In vitro chemical tests considering biological activities revealed that obtained results showed different values depending on concentration, extraction solvent as well as phenolic content. Biological assays demonstrated that the investigated extracts possessed antibacterial properties and were not cytotoxic toward normal skin fibroblasts. Given the obtained results, we concluded that knowledge of the chemical composition and biological activities of investigated species are important to achieve a better understanding of the utilization of these plants in traditional medicine and be useful for further research in their application to treat various diseases, such as skin disorders.


Assuntos
Acne Vulgar , Rosaceae , Acne Vulgar/tratamento farmacológico , Antibacterianos/uso terapêutico , Antioxidantes/química , Frutas/química , Fenóis/análise , Fenóis/farmacologia , Extratos Vegetais/química , Folhas de Planta/química , Rosaceae/química
11.
Int J Mol Sci ; 22(12)2021 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-34207583

RESUMO

Skin aging is a natural, unavoidable, and complex process caused by oxidative stress. As a consequence, it leads to an increase in the activation of extracellular matrix disruption enzymes and DNA damage. The search for natural sources that inhibit these mechanisms can be a good approach to prevent skin aging. The purpose of our study was to evaluate the composition of flavonoids and phenolic acids in the extracts obtained from the flowers, roots, and leaves of Eutrema japonicum cultivated in Poland. Then, the resultant extracts were subjected to an assessment of antioxidant, anti-collagenase, anti-elastase, anti-hyaluronidase, antibacterial, and cytotoxic properties. It was demonstrated that the extract from the flowers had the highest content of flavonoid glycosides (17.15 mg/g DE). This extract showed the greatest antioxidant, anti-collagenase, anti-elastase, and anti-hyaluronidase activities compared to the other samples. Importantly, the collagenase inhibitory activity of this extract (93.34% ± 0.77%) was better than that of positive control epigallocatechin gallate (88.49% ± 0.45%). An undeniable advantage of this extract was also to possess moderate antibacterial properties and no cytotoxicity towards normal human skin fibroblasts. Our results suggest that extracts from E. japonicum flowers may be considered as a promising antiaging compound for applications in cosmetic formulations.


Assuntos
Envelhecimento/efeitos dos fármacos , Flavonoides , Hidroxibenzoatos , Wasabia/química , Células A549 , Flavonoides/química , Flavonoides/farmacologia , Humanos , Hidroxibenzoatos/química , Hidroxibenzoatos/farmacologia , Polônia , Wasabia/crescimento & desenvolvimento
12.
Pediatr Res ; 87(3): 485-493, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31578039

RESUMO

BACKGROUND: We aimed to identify global blood and retinal gene expression patterns in murine oxygen-induced retinopathy (OIR), a common model of retinopathy of prematurity, which may allow better understanding of the pathogenesis of this severe ocular prematurity complication and identification of potential blood biomarkers. METHODS: A total of 120 C57BL/6J mice were randomly divided into an OIR group, in which 7-day-old pups were maintained in 75% oxygen for 5 days, or a control group. RNA was extracted from the whole-blood mononuclear cells and retinal cells on days 12, 17, and 28. Gene expression in the RNA samples was evaluated with mouse gene expression microarrays. RESULTS: There were 38, 1370 and 111 genes, the expression of which differed between the OIR and control retinas on days 12, 17, and 28, respectively. Gene expression in the blood mononuclear cells was significantly altered only on day 17. Deptor and Nol4 genes showed reduced expression both in the blood and retinal cells on day 17. CONCLUSION: There are sustained marked changes in the global pattern of gene expression in the OIR mice retinas. An altered expression of Deptor and Nol4 genes in the blood mononuclear cells requires further investigation as they may indicate retinal neovascularization.


Assuntos
Hiperóxia/complicações , Leucócitos Mononucleares/metabolismo , RNA Mensageiro/sangue , Retina/metabolismo , Neovascularização Retiniana/sangue , Retinopatia da Prematuridade/sangue , Transcriptoma , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Perfilação da Expressão Gênica , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Peptídeos e Proteínas de Sinalização Intracelular/genética , Camundongos Endogâmicos C57BL , Proteínas Nucleares/sangue , Proteínas Nucleares/genética , RNA Mensageiro/genética , Neovascularização Retiniana/etiologia , Neovascularização Retiniana/genética , Retinopatia da Prematuridade/etiologia , Retinopatia da Prematuridade/genética , Fatores de Tempo
13.
Pediatr Res ; 88(3): 391-397, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32053824

RESUMO

BACKGROUND: Retinal gene expression pattern is severely altered after exposition to hyperoxia in mice with oxygen-induced retinopathy (OIR), a common model of retinopathy of prematurity. Gene ontology and signaling pathway analyses may add new insights into a better understanding of the pathogenesis of this disease. METHODS: Seven-day-old C57BL/6J mice (n = 60) were exposed to 75% oxygen for 5 days and then recovered in room air. The controls (n = 60) were kept in the normoxic conditions. Retinas were harvested immediately following hyperoxia, during the phase of maximal neovascularization, and at the time of neovascularization regression. The retinal RNA samples were evaluated for gene expression using mouse gene expression microarrays. DAVID annotation tools were used for gene ontology and pathway analyses. RESULTS: The most significantly enriched signaling pathways during the neovascularization phase of OIR were: focal adhesion; ECM-receptor interaction; PI3K-Akt; oxidative phosphorylation; and Alzheimer's, Parkinson's and Huntington's disease signaling pathways. Genes involved in apoptosis, cell proliferation, cell differentiation, and immune responses were associated with neovascularization regression. CONCLUSIONS: Performed analyses revealed the possible involvement of various signaling pathways in OIR pathomechanism, mostly specific to the OIR phase. Dysregulation of genes involved in oxidative phosphorylation may have an impact on neovascularization development.


Assuntos
Regulação da Expressão Gênica , Hiperóxia/metabolismo , Fosforilação Oxidativa , Retina/metabolismo , Retinopatia da Prematuridade/genética , Transcriptoma , Animais , Apoptose , Diferenciação Celular , Proliferação de Células , Modelos Animais de Doenças , Perfilação da Expressão Gênica , Hipóxia , Sistema Imunitário , Camundongos , Camundongos Endogâmicos C57BL , Microglia/metabolismo , Neovascularização Patológica , Análise de Sequência com Séries de Oligonucleotídeos , Oxigênio/metabolismo , RNA/metabolismo , Neovascularização Retiniana/metabolismo , Transdução de Sinais
14.
Molecules ; 25(7)2020 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-32290223

RESUMO

The leaves of Pyrola rotundifolia L. were extracted in the mixed solvent of methanol/acetone/water (2:2:1, v/v/v) and investigated for their phytochemical analysis and biological activity. Total phenolic and flavonoid contents were determined spectrophotometrically. A high content of phenols (208.35 mg GAE/g of dry extract), flavonoids (38.90 mg QE/g of dry extract) and gallotannins (722.91 GAE/g of dry extract) was obtained. Ultra-high performance liquid chromatography diode array detector tandem mass spectrometry (UHPLC-DAD-MS) allowed for the detection of 23 major peaks at 254 nm. The extract was analyzed for its antioxidant capacity using 2,2-diphenyl-1-picryl-hydrazyl (DPPH•) and 2,2'-azinobis[3-ethylbenzthiazoline]-6-sulfonic acid (ABTS•+) radical scavenging, metal chelating power and ß-carotene-linoleic acid bleaching assays. The examined extract showed moderate radical scavenging and chelating activity, and good inhibiting ability of linoleic acid oxidation (EC50 = 0.05 mg/mL) in comparison to standards. The cytotoxic effect in increasing concentration on five types of leukemic cell lines was also investigated using trypan blue vital staining. It was found that the analyzed extract induced the apoptosis of all the tested cell lines. Our findings suggest that the leaves of P. rotundifolia are a source of valuable compounds providing protection against oxidative damage, hence their use in traditional medicine is justified.


Assuntos
Antioxidantes/química , Antioxidantes/farmacologia , Fenóis/química , Extratos Vegetais/química , Extratos Vegetais/farmacologia , Folhas de Planta/química , Pyrola/química , Antineoplásicos/química , Antineoplásicos/farmacologia , Cromatografia Líquida de Alta Pressão , Flavonoides/química , Compostos Fitoquímicos/química , Pyrola/metabolismo
15.
Molecules ; 23(3)2018 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-29534472

RESUMO

Preliminary characterization and bioactivity of water-soluble polysaccharides from four Impatiens species-I. glandulifera Royle, I. parviflora DC., I. balsamina L., and I. noli-tangere L.-were investigated. The yields of polysaccharides range widely from 1.97% for I. parviflora roots to 18.63% for I. balsamina aerial parts. SEC (Size exclusion chromatography) chromatograms show that all samples contained a low molecular weight part that consisted of components of similar molecular weight. The aerial parts and roots of I. balsamina, and I. glandulifera aerial parts had considerable amounts of high molecular weight components up to 2.3 MDa. The sugar composition analysis revealed that Impatiens polysaccharides consisted primarily of galactose, arabinose, rhamnose, mannose, xylose, and glucose. All polysaccharide fractions, except for I. parviflora roots, also contain galacturonic acid. Moreover, in vitro bioactivity of obtained polysaccharides were evaluated. The antioxidant activity was evaluated on the basis of 2,2-diphenyl-1-picrylhydrazyl (DPPH) and 2,2-azino-bis-(3-ethyl-benzthia-6-sulfonic acid) (ABTS) radical scavenging assays. The highest antioxidant activity was obtained for I. balsamina aerial parts and I. parviflora roots. Among the tested fractions, only the polysaccharides from I. glandulifera aerial parts were able to significantly decrease the production of IL-8 by 32.7 ± 10.5%. The results suggest that Impatiens species can be considered as a new source of antioxidants.


Assuntos
Antioxidantes/química , Antioxidantes/farmacologia , Impatiens/química , Polissacarídeos/química , Polissacarídeos/farmacologia , Adulto , Antioxidantes/isolamento & purificação , Células Cultivadas , Cromatografia em Gel , Humanos , Impatiens/classificação , Neutrófilos/citologia , Neutrófilos/efeitos dos fármacos , Neutrófilos/metabolismo , Componentes Aéreos da Planta/química , Raízes de Plantas/química , Polissacarídeos/isolamento & purificação , Solubilidade , Água , Adulto Jovem
16.
Cent Eur J Immunol ; 43(2): 139-147, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30135625

RESUMO

INTRODUCTION: In this study we describe a patient with gross deletion containing the BTK and TIMM8A genes. Mutations in these genes are responsible for X-linked agammaglobulinemia and Mohr-Tranebjaerg syndrome, respectively. X linked agammaglobulinemia is a rare primary immunodeficiency characterized by low levels of B lymphocytes and recurrent microbial infections, whereas, Mohr-Tranebjaerg syndrome is a progressive neurodegenerative disorder with early onset of sensorineural deafness. MATERIAL AND METHODS: For neuroimaging, the magnetic resonance imaging and magnetic resonance spectroscopy of the brain were performed. Microarray analysis was performed to establish the extent of deletion. RESULTS: The first clinical symptoms observed in our patient at the age of 6 months were connected with primary humoral immunodeficiency, whereas clinical signs of MTS emerged in the third year of live. Interestingly, the loss of speech ability was not accompanied by hearing failure. Neuroimaging of the brain suggested leukodystrophy. Molecular tests revealed contiguous X-chromosome deletion syndrome encompassing BTK (from exons 6 through 19) and TIMM8A genes. The loss of the patient's DNA fragment was accurately localized from 100 601 727 to 100 617 576 bp on chromosome's loci Xq22.1. CONCLUSIONS: We diagnosed XLA-MTS in the first Polish patient on the basis of particular molecular methods. We detected neurodegenerative changes in MRI and MR spectroscopy in this patient. Our results provide further insight into this rare syndrome.

17.
Contemp Oncol (Pozn) ; 22(4): 223-228, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30783385

RESUMO

AIM OF THE STUDY: Neuroblastoma (NBL) is one of the most common extracranial tumours occurring in children with N-Myc gene amplification, acknowledged as a marker of poor prognosis. We assessed the frequency of N-Myc amplification and its impact on NBL markers and on the treatment outcome. MATERIAL AND METHODS: Among 160 children with NBL treated from 1991 to 2015 in one centre 140 patients had known N-Myc gene status, and they were enrolled in the study. The analysed group was divided into two subgroups: with and without N-Myc amplification (25 and 115 children, respectively). Association of N-Myc amplification with stage of the disease, levels of biochemical parameters, overall survival (OS) and failure-free survival (FFS) were analysed. RESULTS: The frequency of N-Myc amplification was 17.9%. Most children with N-Myc amplification (64%) were classified to stage 4 NBL. The levels of biochemical markers of NBL: ferritin, dopamine, NSE, and LDH were significantly higher in the group with N-Myc amplification, whereas the levels of VMA and HVA were lower. OS and FFS were significantly lower in children with N-Myc amplification in comparison to children from the control group (OS 53% vs. 76%, p = 0.03; FFS 50% vs. 72%, p = 0.03). The impact of N-Myc amplification on the treatment outcome was significant in patients with stage 4 NBL and children under one year of age. CONCLUSIONS: N-Myc amplification is a crucial prognostic factor in neuroblastoma, which is associated with almost all features related with poor prognosis and a higher probability of unfavourable outcome.

18.
Ginekol Pol ; 88(8): 434-441, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28930370

RESUMO

OBJECTIVES: Evaluate the time dependent expression of genes in preterm neonates and verify the influence of ontogenic maturation and the environmental factors on the gene expression after birth. MATERIAL AND METHODS: The study was carried out on 20 full-term newborns and 62 preterm newborns (mean birth weight = 1002 [g] (SD: 247), mean gestational age = 27.2 weeks (SD: 1.9)). Blood samples were drawn from all the study participants at birth and at the 36th week postmenstrual age from the preterm group to assess whole genome expression in umbilical cord blood and in peripheral blood leukocytes, respectively. (SurePrint G3 Human Gene Expression v3, 8x60K Microarrays (Agilent)). RESULTS: A substantial number of genes was found to be expressed differentially at the time of birth and at 36 PMA in comparison to the term babies with more genes being down-regulated than up-regulated. However, the fold change in the majority of cases was < 2.0. Extremely preterm and very preterm infants were characterized by significantly down-regulated cytokine and chemokine related pathways. The number of down-regulated genes decreased and number of up-regulated genes increased at 36 PMA vs. cord blood. There were no specific gene expression pathway profiles found within the groups of different gestational ages. CONCLUSIONS: Preterm delivery is associated with a different gene expression profile in comparison to term delivery. The gene expression profile changes with the maturity of a newborn measured by the gestational age.


Assuntos
Perfilação da Expressão Gênica , Recém-Nascido Prematuro , Nascimento a Termo , Feminino , Genoma Humano , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Prospectivos
19.
Molecules ; 21(9)2016 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-27598111

RESUMO

The present paper describes the chemical composition of the essential oils obtained by hydrodistillation from four Impatiens species, Impatiens glandulifera Royle, I. parviflora DC., I. balsamina L. and I. noli-tangere L. The GC and GC-MS methods resulted in identification of 226 volatile compounds comprising from 61.7%-88.2% of the total amount. The essential oils differed significantly in their composition. Fifteen compounds were shared among the essential oils of all investigated Impatiens species. The majority of these constituents was linalool (0.7%-15.1%), hexanal (0.2%-5.3%) and benzaldehyde (0.1%-10.2%). Moreover, the antioxidant activity of the essential oils was investigated using different methods. The chemical composition of the essential oils and its antioxidant evaluation are reported for the first time from the investigated taxon.


Assuntos
Antioxidantes/química , Impatiens/química , Óleos Voláteis/química , Especificidade da Espécie
20.
Molecules ; 21(7)2016 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-27455215

RESUMO

In the present study, ergosterol peroxide and ergosterol were isolated for the first time from fresh fruit bodies of Hygrophoropsis aurantiaca (False Chanterelle). The substances were characterized mainly by spectroscopic methods (¹H-NMR, (13)C-NMR, DEPT-45, DEPT-90, DEPT-135, 2D-NMR). In our study, a new specific thin layer chromatographic method was developed for determination of ergosterol and ergosterol peroxide in H. aurantiaca extract. The method is based on the separation of n-hexane extract on silica gel (Silica Gel G) TLC plates using the optimized solvent system toluene/ethyl acetate (3:1; v/v). The main advantages of the developed method are the simplicity of operation and the low cost. The in vitro study results revealed the antiproliferative properties of ergosterol peroxide against LS180 human colon cancer cells. The described effect was attributed both to altered mitochondrial activity and decreased DNA synthesis. Additionally, in the same concentration range the investigated compound was not toxic to CCD 841 CoTr human colon epithelial cells. The present study suggests that fruit bodies of H. aurantiaca have great potential for producing substances and extracts with potential applications in medicine.


Assuntos
Basidiomycota/química , Ergosterol/análogos & derivados , Ergosterol/isolamento & purificação , Ergosterol/farmacologia , Antineoplásicos/farmacologia , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Cromatografia Líquida , Ergosterol/química , Humanos , Estrutura Molecular , Análise Espectral
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