Publications by authors named "Szewczyk Katarzyna"

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  • The study assesses the effectiveness of invasive prenatal testing using chromosomal microarray analysis (aCGH) following first-trimester screenings, focusing on the prevalence of chromosomal abnormalities across various nuchal translucency (NT) thicknesses and the presence of structural anomalies detected via ultrasound.
  • Conducted as a retrospective cohort study in Polish prenatal diagnosis centers, the research analyzed 1,746 prenatal samples from 2018 to 2021, with indications for testing mainly including high risk for Down syndrome and advanced maternal age.
  • Findings revealed that classical karyotyping detected chromosomal abnormalities in 19.1% of cases, while aCGH identified clinically relevant copy number variants (CNVs) in 5%, with both
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  • This study evaluates chromosomal abnormalities in fetuses with nuchal translucency (NT) measurements between 3.0 and 3.4 mm, which are often missed by non-invasive prenatal testing (cfDNA).
  • A review of data from 271 fetuses revealed that 18.8% had chromosomal aberrations, with significant findings including common trisomies in 15% of cases and a small percentage involving sex chromosome aneuploidy.
  • The research suggests that many fetuses at increased risk for chromosomal issues due to NT measurements may require invasive testing, as NIPT has limitations that could lead to false negatives.
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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.

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Context: Evidence suggested that FGFR4-Arg388 allele is frequently detected in multiple cancers with rapid progression and unfavorable clinical implications.

Aims: It was investigated whether the FGFR4 missense variant (Gly388Arg) could serve as a prognostic biomarker and therapeutic target in neuroblastoma (NB).

Materials And Methods: FGFR4 genotypes were determined by DNA sequencing in 34 NB tumors.

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Introduction: Patients with stage 3 neuroblastoma (NBL) according to International Neuroblastoma Staging System (INSS) without MYCN amplification represent a heterogenous group with respect to disease presentation and prognosis.

Methods: Retrospective analysis of 40 stage 3 patients with NBL without MYCN amplification was performed. The prognostic value of age at diagnosis (under 18 vs over 18 months), International Neuroblastoma Pathology Classification (INPC) diagnostic category and presence of segmental or numerical chromosomes aberrations were evaluated, as well as biochemical markers.

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  • A study reviewed cardiovascular anomalies (CVAs) and related extracardiac structural malformations (ECMs) in 1,005 fetuses who underwent invasive prenatal testing in a Polish center, linking them to chromosomal abnormalities identified via advanced genetic testing methods.
  • CVAs were common, present in 20% of the cases, with septal defects most frequently found in fetuses with numerical chromosomal aberrations and conotruncal defects in those with pathogenic copy number variants (CNVs).
  • Additionally, 61% of the cases showed a connection between CVAs and ECMs, particularly anomalies of the face and neck, underscoring the need for thorough anatomical assessment and genetic testing in fetuses presenting these issues.
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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.

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  • A female patient with chronic obstructive pulmonary disease and respiratory failure was hospitalized due to worsening symptoms, initially testing negative for COVID-19.
  • During her stay, symptoms of respiratory and heart failure worsened, and she showed signs of liver damage before later testing positive for SARS-CoV2.
  • The case highlights the potential for COVID-19 to affect multiple organs, including the liver, and discusses existing literature on this issue.
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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.

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The genus , belonging to the Caprifoliaceae family, is a rich source of interesting secondary metabolites, including mainly saponins which display a variety of biological activities, such as immunomodulatory, antimicrobial and hemolytic effects. Besides these compounds, flavonoids and phenolic acids were identified in species. is employed in traditional medicine e.

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Studies conducted to date have shown that and have high contents of substances with antibacterial, anti-inflammatory, and antioxidant properties; hence, they are attractive plants from the pharmaceutical point of view. However, despite their multifarious desirable biotechnological aspects, the knowledge of these plants is insufficient. The present study focused on the analysis of the morphological, anatomical, and histological structure of aboveground parts of the plants, the identification of the distribution of biologically active compounds in the tissues, and quantitative phytochemical analyses of polyphenolic compounds contained in their aboveground organs.

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  • Biological treatments for inflammatory bowel diseases (IBD) like Crohn's and ulcerative colitis have benefits, but there's an increased risk of tuberculosis (TB), particularly reactivation of latent TB rather than primary TB.
  • The article highlights the need for TB screening in IBD patients before starting immunosuppressive treatments to prevent severe complications.
  • It also discusses three case studies of TB occurring during treatment with biologic agents, showcasing different forms of TB: pneumonia, miliary TB, and a brain tuberculoma with meningitis.
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Lung cancer is a heterogeneous group of diseases with multifactorial aetiology. Smoking has been undeniably recognized as the main aetiological factor in lung cancer, but it should be emphasized that it is not the only factor. It is worth noting that a number of nonsmokers also develop this disease.

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The aim of this study was to compare the chemical composition, as well as antioxidant, anti-inflammatory, antiacne, and cytotoxic activites of various extracts of and . It is worth underlining that we are the first to characterize the composition and evaluate the biological properties of extracts from and Thus, the LC-DAD-MS analysis revealed the presence of 41 natural products in studied extracts. The 5--caffeoylquinic acid, isoorinetin, and swertiajaponin were the main detected compounds.

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  • Plants, especially used in eastern Asia, have significant nutritional and medicinal value, serving to treat ailments like depression and inflammation for centuries.
  • The study examined flavonoids and phenolic acids in Polish cultivated plants, using LC-ESI-MS/MS and spectrophotometric methods to analyze their chemical composition and beneficial properties.
  • Results revealed that the "Chicago Apache" cultivar has the highest phenolic and flavonoid content, with chlorogenic acid and quercetin-3-rutinoside as the most abundant compounds, suggesting potential applications in pharmaceuticals, food, and cosmetics due to their skin-related benefits.
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The leaves of L. were extracted in the mixed solvent of methanol/acetone/water (2:2:1, //) and investigated for their phytochemical analysis and biological activity. Total phenolic and flavonoid contents were determined spectrophotometrically.

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  • The study investigates how exposure to high oxygen levels affects retinal gene expression in mice with a model of oxygen-induced retinopathy (OIR), which resembles retinopathy of prematurity.
  • Mice were subjected to 75% oxygen for 5 days, and their retinal samples were analyzed for gene expression to identify changes during neovascularization and regression phases.
  • Key findings highlight the enrichment of specific signaling pathways, including those related to apoptosis and immune responses, suggesting these pathways play a significant role in the disease's development and progression.
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Amplification of the oncogene is the most unfavorable genetic factor in neuroblastoma patients. However, knowledge about the clinical impact of low-level multiplication of is still insufficient. Therefore, we aimed to investigate the disease course in patients with different copy number status of .

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  • This study investigates gene expression patterns in blood and retina of mice with oxygen-induced retinopathy (OIR), a model for retinopathy of prematurity, to better understand the disease and identify potential blood biomarkers.
  • 120 C57BL/6J mice were used, divided into an OIR group exposed to high oxygen levels and a control group, with gene expression analyzed from blood and retinal cells over a period of 28 days using microarrays.
  • Results revealed significant changes in gene expression, especially in the retina, with specific genes (Deptor and Nol4) showing decreased expression in both blood and retina on day 17, suggesting they could be linked to retinal neovascularization and warrant further exploration.
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During inflammation, reactive oxygen species (ROS) are produced in large amounts, causing oxidative stress. Several studies confirm that plant extracts rich in phenolic compounds may inhibit ROS production. For that reason, the aim of this work is the qualitative and quantitative analysis of phenolic acids and flavonoids in the etheric (LAEN) and methanolic (LAM) extracts of the fruits of Crantz, as well as their antioxidative and cytotoxic properties.

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Background: Bronchopulmonary dysplasia (BPD) is a common cause of abrupted lung development after preterm birth. BPD may lead to increased rehospitalization, more severe and frequent respiratory infections, and life-long reduced lung function. The gene regulation in lungs with BPD is complex, with various genetic and epigenetic factors involved.

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We have recently demonstrated that the hydroethanolic extracts of Impatiens glandulifera Royle (Balsaminaceae) have antianxiety effect in mice. The present study was aimed to investigate an antidepressant activity of hyperoside (HYP) and protocatechuic acid (PCA), two polyphenols isolated from the aerial parts of this plant, using the forced swimming test (FST) and tail suspension test (TST) in mice. The implication of the monoaminergic system in this effect was assessed and brain-derived neurotrophic factor (BDNF) expression was measured.

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Aim Of The Study: Neuroblastoma (NBL) is one of the most common extracranial tumours occurring in children with gene amplification, acknowledged as a marker of poor prognosis. We assessed the frequency of 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 gene status, and they were enrolled in the study.

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Background: The antidepressant and anxiolytic effects of selenium (Se) have been proven in many studies. This work was aimed at confirming these activities of its inorganic form-sodium selenite-and examining the possible synergy of action with antidepressants and diazepam.

Methods: The antidepressant- and anxiolytic-like activity of Se was assessed using forced swim tests (FSTs) and elevated plus-maze test (EPMs).

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