Publications by authors named "Biernacka A"

Article Synopsis
  • In early-stage triple-negative breast cancer (TNBC), high glucocorticoid receptor (GR) expression is linked to poor outcomes, potentially due to an immunosuppressed tumor microenvironment.
  • A study of 47 patients showed that high GR expression correlated with increased levels of immunosuppressive FOXP3+ regulatory T cells and BATF3+ immune cells, but not significantly with CD8+ T cell infiltration.
  • The findings suggest that high GR expression may contribute to a more immunosuppressed state in TNBC, which could explain worse prognoses for patients with GR-positive tumors.
View Article and Find Full Text PDF

Background: Thyroid nodules may be detected during the workup of thyroid hormone abnormalities and as incidental findings during unrelated imaging studies. The diagnosis of a thyroid nodule is mainly established by performing fine needle aspiration (FNA) under ultrasound guidance. Thyroid nodules are classified as nondiagnostic, defined in the Bethesda System for Reporting Thyroid Cytopathology as samples with excess blood, cyst fluid only, and lack of thyroid follicular cells.

View Article and Find Full Text PDF

Background: Spindle cell carcinoid tumor (SCCT) is a rare variant of lung carcinoid tumor consisting predominantly or exclusively of spindle cells. To the authors' knowledge, this is the first study to date investigating the molecular characteristics of SCCTs.

Methods: Eighty-five carcinoid tumors initially diagnosed by fine-needle aspiration over a period of 10 years were reviewed.

View Article and Find Full Text PDF

: A reliable assessment of liver volume, necessary before transplantation, remains a challenge. Our work aimed to assess the differences in the evaluation and measurements of the liver between independent observers and compare different formulas calculating its volume in relation to volumetric segmentation. : Eight researchers measured standard liver dimensions based on 105 abdominal computed tomography (CT) scans.

View Article and Find Full Text PDF

Background: TP53 mutation is present in about 50.8% of lung adenocarcinomas, frequently in combination with other genetic alterations. However, a rare subset harbors the TP53 mutation alone.

View Article and Find Full Text PDF

infection is a potential complication in the individuals with atopic dermatitis (AD) and can affect clinical course of the disease. Here, using primary keratinocytes we determined that atopic promotes changes in the interaction of small extracellular vesicles (sEVs) with dendritic cells and that this is further enhanced by the presence of . sEV uptake is largely dependent on the expression of glycans on their surface; modelling of the protein interactions indicated that recognition of this pathogen through -relevant pattern recognition receptors (PRRs) is linked to several glycosylation enzymes which may in turn affect the expression of sEV glycans.

View Article and Find Full Text PDF

This topical review summarizes underlying concepts of nanodosimetry. It describes the development and current status of nanodosimetric detector technology. It also gives an overview of Monte Carlo track structure simulations that can provide nanodosimetric parameters for treatment planning of proton and ion therapy.

View Article and Find Full Text PDF

De novo somatic variants in genes encoding components of the PI3K-AKT3-mTOR pathway, including , have been linked to hemimegalencephaly or focal cortical dysplasia. Similarly to other malformations of cortical development, this condition presents with developmental delay and intractable epilepsy, often necessitating surgical treatment. We describe a first patient with the Smith-Kingsmore syndrome phenotype with recurrent hypoglycemia caused by low-level mosaic mutation restricted to the brain.

View Article and Find Full Text PDF

Pharmaco-electroencephalography (pharmaco-EEG) is a technique used to assess the effects of psychotropic medications on the bioelectrical activity of the brain. The purpose of this study was to assess the treatment response with the use of the Hamilton Depression Rating Scale (HDRS) and via EEG. Over an 8-week period, we analyzed electroencephalographic tracings of 91 patients hospitalized for major depression at the Medical University of Warsaw.

View Article and Find Full Text PDF

Introduction: The Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) specifies six categories with estimated risks of malignancy (ROM) and suggested management. The estimated ROM is 25% for Non-Diagnostic (ND) category, and 10% for Non-Neoplastic (NN). This study aimed to investigate histopathologic and clinical outcomes of MSRSGC categories ND and NN at the authors' institution.

View Article and Find Full Text PDF

Background: Fine needle aspiration (FNA) of renal masses can distinguish between benign and malignant neoplasms in 73-94% of cases. Previous studies suggested the correct subclassification of renal cell carcinomas (RCCs) by cytomorphology can be achieved in up to 80% of cases. However, as RCCs become increasingly subclassified by molecular signatures, correct subclassification based on cytology alone is increasingly difficult.

View Article and Find Full Text PDF

DNA double-strand breaks (DSBs) are implicated in various physiological processes, such as class-switch recombination or crossing-over during meiosis, but also present a threat to genome stability. Extensive evidence shows that DSBs are a primary source of chromosome translocations or deletions, making them a major cause of genomic instability, a driving force of many diseases of civilization, such as cancer. Therefore, there is a great need for a precise, sensitive, and universal method for DSB detection, to enable both the study of their mechanisms of formation and repair as well as to explore their therapeutic potential.

View Article and Find Full Text PDF

R-loops have both positive and negative impacts on chromosome functions. To identify toxic R-loops in the human genome, here, we map RNA:DNA hybrids, replication stress markers and DNA double-strand breaks (DSBs) in cells depleted for Topoisomerase I (Top1), an enzyme that relaxes DNA supercoiling and prevents R-loop formation. RNA:DNA hybrids are found at both promoters (TSS) and terminators (TTS) of highly expressed genes.

View Article and Find Full Text PDF
Article Synopsis
  • * Rapid whole-exome sequencing (R-WES) was performed on 18 infants in ICU suspected of having a genetic cause for their severe conditions, yielding a diagnosis in 72.2% of cases within 5-14 days.
  • * R-WES is suggested as an effective first-tier diagnostic tool for critically ill infants, enabling timely medical management and providing families with essential genetic counseling.
View Article and Find Full Text PDF

The article Feasibility Study of a Novel Protease-Activated Fluorescent Imaging System for Real-Time, Intraoperative Detection of Residual Breast Cancer in Breast Conserving Surgery, written by Barbara L. Smith et al., was originally published electronically on the publisher's internet portal on January 2, 2020, without open access.

View Article and Find Full Text PDF

Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known variant c.1160_1161delCA (p.

View Article and Find Full Text PDF
Article Synopsis
  • Most cardiomyopathies are inherited in an autosomal dominant manner, leading to genetic testing for patients with family histories of the disease.
  • The study focused on finding de novo mutations—new mutations that are not inherited—from 12 patients with cardiomyopathy and no family history of the condition.
  • The researchers discovered de novo variants in cardiomyopathy-related genes in 66.7% of the cases, and they also identified new candidate genes that could influence immune responses, particularly for patients whose symptoms began after infections or infestations.
View Article and Find Full Text PDF

Background: Obtaining tumor-free margins is critical to prevent recurrence after lumpectomy for breast cancer. Unfortunately, current approaches leave positive margins that require second surgeries in 20-40% of patients. We assessed the LUM Imaging System for real-time, intraoperative detection of residual tumor.

View Article and Find Full Text PDF

DNA double-strand breaks (DSBs) are among the most lethal types of DNA damage and frequently cause genome instability. Sequencing-based methods for mapping DSBs have been developed but they allow measurement only of relative frequencies of DSBs between loci, which limits our understanding of the physiological relevance of detected DSBs. Here we propose quantitative DSB sequencing (qDSB-Seq), a method providing both DSB frequencies per cell and their precise genomic coordinates.

View Article and Find Full Text PDF

Dermatofibrosarcoma protuberans (DFSP) is a low-grade spindle cell tumor of the skin commonly arising on the trunk and extremities which tends to be slow growing yet locally aggressive. DFSPs are associated with a good prognosis when surgical excision with negative margins is achieved. Although local recurrences occur up to 50% of incompletely resected cases, distant metastases are very rare.

View Article and Find Full Text PDF

Background: Fine-needle aspiration (FNA) is frequently utilized in the diagnostic workup of lymphadenopathy. We evaluated the correlation of cytopathology with flow cytometry and tissue biopsy results and assessed the prevalence of specific malignancies in young adults presenting with cervical lymphadenopathy.

Methods: Database was searched for cervical lymph node FNA performed by a cytopathologist in patients aged 18-30 years from 2005 to 2017.

View Article and Find Full Text PDF

Maintenance of genome stability is a key issue for cell fate that could be compromised by chromosome deletions and translocations caused by DNA double-strand breaks (DSBs). Thus development of precise and sensitive tools for DSBs labeling is of great importance for understanding mechanisms of DSB formation, their sensing and repair. Until now there has been no high resolution and specific DSB detection technique that would be applicable to any cells regardless of their size.

View Article and Find Full Text PDF

Background: Mapping the breakpoints in de novo balanced chromosomal translocations (BCT) in symptomatic individuals provides a unique opportunity to identify in an unbiased way the likely causative genetic defect and thus find novel human disease candidate genes. Our aim was to fine-map breakpoints of de novo BCTs in a case series of nine patients.

Methods: Shallow whole-genome mate pair sequencing (SGMPS) together with long-range PCR and Sanger sequencing.

View Article and Find Full Text PDF

Double-strand breaks (DSBs) are extremely detrimental DNA lesions that can lead to cancer-driving mutations and translocations. Non-homologous end joining (NHEJ) and homologous recombination (HR) represent the two main repair pathways operating in the context of chromatin to ensure genome stability. Despite extensive efforts, our knowledge of DSB-induced chromatin still remains fragmented.

View Article and Find Full Text PDF