Publications by authors named "Katarzyna Kowalczyk"

Article Synopsis
  • 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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We report the measurement of impulsive stimulated x-ray Raman scattering in neutral liquid water. An attosecond pulse drives the excitations of an electronic wavepacket in water molecules. The process comprises two steps: a transition to core-excited states near the oxygen atoms accompanied by transition to valence-excited states.

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In this work, we describe the construction and application of a repurposed 3D-printer as a fraction collector. We utilize a nano-LC to ensure minimal volumes and surfaces although any LC can be coupled. The setup operates as a high-pH fractionation system capable of effectively working with nanogram scales of lysate digests.

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Introduction And Objective: The hygienic status of arable soils in most developed countries has been unknown. In the presented study, a preliminary investigation was undertaken to determine the contamination with eggs of parasitic nematodes in the soil of arable fields in Poland. The aim of the study was to determine whether such contamination is common enough to constitute a significant problem and what factors may influence it.

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This study assessed the impact of the first wave of the COVID-19 pandemic on well-being by measuring the changes to food security, dietary behaviour, and sleeping patterns of university staff in England, Poland, Saudi Arabia, and China. Using a cross-sectional study design, participants in four universities in the respective countries were surveyed between June and July 2020. The mean age of the 902 participants was 42 years old and 67% were female.

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The arc of Buhler (AOB) is a direct anastomosis of the celiac axis and superior mesenteric artery. This paper reviews the literature on the AOB and provides accurate and up-to-date data on its prevalence, anatomy, and clinical significance. The main scholarly online databases were carefully searched for relevant studies related to the AOB.

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22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum.

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Amplification of the mitotic kinase Aurora A or loss of its regulator protein phosphatase 6 (PP6) have emerged as drivers of genome instability. Cells lacking PPP6C, the catalytic subunit of PP6, have amplified Aurora A activity, and as we show here, enlarged mitotic spindles which fail to hold chromosomes tightly together in anaphase, causing defective nuclear structure. Using functional genomics to shed light on the processes underpinning these changes, we discover synthetic lethality between PPP6C and the kinetochore protein NDC80.

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The development of ultra-thin flat liquid sheets capable of running in vacuum has provided an exciting new target for X-ray absorption spectroscopy in the liquid and solution phases. Several methods have become available for delivering in-vacuum sheet jets using different nozzle designs. We compare the sheets produced by two different types of nozzle; a commercially available borosillicate glass chip using microfluidic channels to deliver colliding jets, and an in-house fabricated fan spray nozzle which compresses the liquid on an axis out of a slit to achieve collision conditions.

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Pigeons are a typical host and natural reservoir of Chlamydia psittaci, the etiological agent of avian chlamydiosis, considered as a neglected zoonotic diseases. The aim of the study was to determine the prevalence of C. psittaci in faecal samples of feral pigeons (Columba livia forma urbana) as a potential source of infection related to the presence of synanthropic birds in urban areas.

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Introduction: Between 2015-2020, the concentrations and diversity of filamentous fungi as well as the levels of mycotoxins in 4 classes of vegetables and fruits were studied in samples from farms located in eastern Poland. The short communication summarizes the results with the use of statistical analysis and indicates the potential health hazards associated with the consumption of the produce contaminated with fungi and/or mycotoxins. The concentrations of filamentous fungi in all examined samples were moderate (2.

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The aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.

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Introduction And Objective: The aim of the study was to determine the presence, concentration and generic composition of filamentous fungi. Selected mycotoxins were also determined: total aflatoxins and deoxynivalenol.

Material And Methods: In 2017-2018, 40 samples of strawberry fruits and 40 samples of red raspberry fruits were collected.

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Spontaneous abortion occurs in 8-20% of recognized pregnancies and usually takes place in the first trimester (7-11 weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We present the results of oligonucleotide array application in a cohort of 62 miscarriage cases.

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Introduction And Objective: The aim of the study was to determine the presence, concentration and generic composition of filamentous fungi. Considering the significant role of mycotoxins in the pathogenicity of fungal contaminants of vegetables, the scope of the study was extended by determination of aflatoxins and deoxynivalenol.

Material And Methods: In the years 2019-2020, samples of vegetables (lettuce, spinach, tomato, red pepper) collected on conventional farms located in eastern Poland were subjected to mycological examination.

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Congenital heart defects (CHDs) appear in 8-10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3-5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects.

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The objective of this study was to evaluate the effect of the supplemental lighting of cucumber with sodium pressure lamps (HPSs) and light-emitting diodes (LEDs) on photosynthetic efficiency and yield in autumn-winter cultivation. Cucumber plants of the 'Svyatogor' F1 midi-cucumber parthenocarpic type cultivar were grown on mineral wool mats in three compartments, differing only in the type of light, i.e.

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The aim of this study was to evaluate the effects of various supplemental greenhouse lighting systems, i.e., high-pressure sodium lamps and mixtures of red and blue light-emitting diodes, on the photochemical efficiency, anatomical leaf structure, and growth of the two pepper cultivars.

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In recent years, much effort has been devoted to understanding the response of plants to various light sources, largely due to advances in industry light-emitting diodes (LEDs). In this study, the effect of different light modes on rocket (Eruca sativa. Mill.

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The colon cancer (CC) is the fourth most common cancer in the world. It is associated with metastatic spread in 50% of cases in the course of the disease. Common sites for synchronous metastases from colorectal cancer are the lung, liver, peritoneum, bone and brain.

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KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the gene or a chromosomal rearrangement involving this gene. We hereby present clinical evaluations of 23 patients aged 4 months to 26 years manifesting clinical features of KBG syndrome.

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Integration of signalling downstream of individual receptor tyrosine kinases (RTKs) is crucial to fine-tune cellular homeostasis during development and in pathological conditions, including breast cancer. However, how signalling integration is regulated and whether the endocytic fate of single receptors controls such signalling integration remains poorly elucidated. Combining quantitative phosphoproteomics and targeted assays, we generated a detailed picture of recycling-dependent fibroblast growth factor (FGF) signalling in breast cancer cells, with a focus on distinct FGF receptors (FGFRs).

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Fibromuscular dysplasia (FMD), regarded as a generalized vascular disease, may affect all vascular beds and may result in arterial stenosis, occlusion, aneurysm, or dissection. It has been proposed to systematically evaluate all vascular beds in patients with FMD, regardless of initial FMD involvement. However, the impact of this approach on clinical decisions and on management is unknown.

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Soil is one of the most commonly occurring sources of biological hazards in the environment. It is a reservoir of many pathogens and an important factor in the environmental transmission of parasites. The aim of the article is to discuss the general degree of parasitic contamination of agriculturally used soil in Poland from the aspect of potential health risk for farmers.

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