1,147 results match your criteria: "Charles University and General University Hospital in Prague[Affiliation]"

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare tumor of uncertain lineage and low malignant potential. Most tumors behave in a benign manner, but a subset of UTROSCT exhibit an aggressive clinical course with recurrences and metastases. The recurrent molecular alterations in UTROSCT mostly represent gene fusions involving NCOA1-3.

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Article Synopsis
  • The study investigates the link between cis-vaccenic acid (cVA) in plasma lipid compartments and insulin sensitivity in men with hyperlipidemia.
  • It analyzes 231 hyperlipidemic men and compares them based on cVA levels, finding those with higher cVA had lower insulin and better insulin resistance markers.
  • The findings suggest that higher cVA in plasma phospholipids may be associated with improved insulin sensitivity among hyperlipidemic men, although mixed research results exist on this topic.
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SARS-CoV-2 viral load is linked to remdesivir efficacy in severe Covid-19 admitted to intensive care.

Sci Rep

September 2024

Faculty of Medicine, Institute of Health Information and Statistics of the Czech Republic, Masaryk University, Brno, Czech Republic.

Remdesivir therapy has been declared as efficient in the early stages of Covid-19. Of the 339 patients (males 55.8%, age 71(59;77) years) with a detectable viral load, 140 were treated with remdesivir (of those 103 in the ICU and 57 immunosuppressed) and retrospectively compared with 199 patients (of those 82 in the ICU and 28 immunosuppressed) who were denied therapy due to advanced Covid-19.

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Cell cycle checkpoints, oncogene-induced senescence and programmed cell death represent intrinsic barriers to tumorigenesis. Protein phosphatase magnesium-dependent 1 (PPM1D) is a negative regulator of the tumour suppressor p53 and has been implicated in termination of the DNA damage response. Here, we addressed the consequences of increased PPM1D activity resulting from the gain-of-function truncating mutations in exon 6 of the PPM1D.

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Using immunohistochemistry, we examined a large cohort of 135 ovarian tumors, made up of 96 low-grade serous carcinomas (LGSCs) and 39 serous borderline tumors (micropapillary variant, mSBT), with the aim of exploring their HER2 status (overexpression). We followed with comprehensive genomic analyses on this sample set from our previous study, which revealed HER2 mutation in 5% (4/75) of LGSC and 10% (3/29) of mSBT. No cases were evaluated as HER2-positive, but 6 LGSCs and 1 mSBT were scored as HER2 1+, and 2 LGSCs and 1 mSBT showed the so-called HER2 "ultra-low" phenotype.

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Background: Stathmin, a cytosolic microtubule-destabilizing phosphoprotein involved in the regulation of mitosis, is widely expressed in various malignancies and acts as an adverse prognostic factor. Our research analyzed its immunohistochemical expression on a large cohort of ovarian sex cord-stromal tumors, evaluating its potential utility in differential diagnosis, prognosis, and therapeutic application.

Methods: We examined 390 cases of ovarian sex cord-stromal tumors including 281 adult granulosa cell tumors (AGCT), 5 juvenile granulosa cell tumors (JGCT), 33 Sertoli-Leydig cell tumors (SLCT), 50 fibromas/thecomas (F/T), 11 Leydig cell tumors/steroid cell tumors (LCT/SterCT), 5 sex-cord stromal tumors NOS (SCST-NOS), 3 Sertoli cell tumors (SCT), and 2 sclerosing stromal tumors (ScST).

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Article Synopsis
  • The study analyzes urinary iodine levels and thyroid hormone concentrations in pregnant women with gestational diabetes mellitus (GDM) compared to healthy pregnant women, focusing on iodine status and its impact on thyroid function.
  • Results show that women with GDM have significantly lower urinary iodine concentrations and a higher prevalence of iodine deficiency compared to controls, with only a small percentage meeting optimal iodine intake.
  • Additionally, while there were no differences in serum TSH levels, hypothyroxinaemia was more common in GDM patients, and taking dietary iodine supplements was linked to fewer perinatal complications.
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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

EMBO Mol Med

October 2024

Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.

Article Synopsis
  • - Dyskeratosis congenita (DC) is a rare inherited condition that leads to bone marrow failure and is largely linked to mutations affecting telomere biology, with about 35% of cases having unidentified genetic causes.
  • - Research on a wide range of DC and 'DC-like' cases uncovered new pathogenic variants, including findings in the novel X-linked gene POLA1 and in known genes POT1 and ZCCHC8, enhancing the understanding of the genetic basis of these disorders.
  • - Functional studies indicated that the new variants in POLA1 and POT1 disrupt crucial protein interactions that are essential for telomere maintenance, while ZCCHC8 variants lead to inflammation in patients, thereby contributing to the understanding of
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Introduction: Fertility-sparing treatment (FST) for patients with cervical cancer intends to achieve oncologic outcomes comparable to those after radical treatment while maximizing reproductive outcomes, including the ability to conceive and minimizing the risk of prematurity.

Methodology: International multicentre retrospective FERTISS study focused on patients treated with FST analysed timing of FST relative to pregnancy, conception attempts and methods, abortion rates, prophylactic procedures reducing the risk of severe prematurity, pregnancy duration, and delivery mode.

Results: Of the 733 patients treated at 44 centres in 13 countries, 49.

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MetDecode: methylation-based deconvolution of cell-free DNA for noninvasive multi-cancer typing.

Bioinformatics

September 2024

Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, 3000, Belgium.

Article Synopsis
  • Circulating cell-free DNA (cfDNA) is being studied as a noninvasive marker for cancer detection, and understanding its origins could enhance cancer diagnosis and treatment management.* -
  • The researchers created MetDecode, a deconvolution algorithm that identifies cancer tissue origins using DNA methylation patterns, and built a reference atlas from existing data for various cancers.* -
  • MetDecode showed high accuracy, correctly identifying tissue origins in 84.2% of plasma cfDNA samples from cancer patients, and can be accessed online for further use.*
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Mycophenolate mofetil (MMF) is an immunosuppressant drug approved for prophylaxis of transplant rejection in patients undergoing solid organ transplantation and is further employed in management of various autoimmune disorders. MMF exhibits notable pharmacokinetic inter- and intraindividual variability necessitating tailored therapeutic approaches to achieve optimal therapeutic outcomes while mitigating risks of adverse effects. The objective of this review was to summarize factors that influence the pharmacokinetics of MMF and its active metabolite mycophenolic acid in order to deduce recommendations for personalized treatment strategies.

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Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members.

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Introduction: This study aimed to validate the Sargent risk stratification algorithm for the prediction of placenta accreta spectrum (PAS) severity using data collected from multiple centers and using the multicenter data to improve the model.

Material And Methods: We conducted a multicenter analysis using data collected for the IS-PAS database. The Sargent model's effectiveness in distinguishing between abnormally adherent placenta (FIGO grade 1) and abnormally invasive placenta (FIGO grades 2 and 3) was evaluated.

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Purpose: Patients with high-grade serous ovarian carcinoma (HGSOC) are virtually insensitive to immune checkpoint inhibitors (ICI) employed as standalone therapeutics, at least in part reflecting microenvironmental immunosuppression. Thus, conventional chemotherapeutics and targeted anticancer agents that not only mediate cytotoxic effects but also promote the recruitment of immune effector cells to the HGSOC microenvironment stand out as promising combinatorial partners for ICIs in this oncological indication.

Experimental Design: We harnessed a variety of transcriptomic, spatial, and functional assays to characterize the differential impact of neoadjuvant paclitaxel-carboplatin on the immunological configuration of paired primary and metastatic HGSOC biopsies as compared to neoadjuvant chemotherapy (NACT)-naïve HGSOC samples from five independent patient cohorts.

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Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).

Methods: The SNPs of the following genes were investigated: (F V Leiden, rs6025), prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), (rs2289252) and (non-O, rs8176719) in both groups.

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  • Monoallelic germline pathogenic variants in certain Fanconi anemia genes are known to increase breast and ovarian cancer risk, but the effects of variants in FANCG/XRCC9 remain unclear.
  • Researchers found that the frequency of truncating variants in FANCG did not significantly differ between breast cancer, ovarian cancer patients, and controls.
  • The study concludes that heterozygous germline FANCG variants are unlikely to play a role in developing breast or ovarian cancer.
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Mitochondrial dysregulation plays a significant role in the carcinogenesis. On the other hand, its destabilization strongly represses the viability and metastatic potential of cancer cells. Photodynamic and photothermal therapies (PDT and PTT) target mitochondria effectively, providing innovative and non-invasive anticancer therapeutic modalities.

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EEG for good outcome prediction after cardiac arrest: A multicentre cohort study.

Resuscitation

September 2024

Department of Clinical Sciences Lund, Clinical Neurophysiology, Lund University, Lund, Sweden. Electronic address:

Aim: Assess the prognostic ability of a non-highly malignant and reactive EEG to predict good outcome after cardiac arrest (CA).

Methods: Prospective observational multicentre substudy of the "Targeted Hypothermia versus Targeted Normothermia after Out-of-hospital Cardiac Arrest Trial", also known as the TTM2-trial. Presence or absence of highly malignant EEG patterns and EEG reactivity to external stimuli were prospectively assessed and reported by the trial sites.

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Clinical risk stratification: Development and validation of the DAAE score, a tool for estimating patient risk of transition to secondary progressive multiple sclerosis.

Mult Scler Relat Disord

September 2024

MS Center Amsterdam, Department of Anatomy and Neurosciences, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam UMC, location VUmc, De Boelelaan 1108, Amsterdam 1081 HZ, the Netherlands.

Background: Because secondary progressive multiple sclerosis (SPMS) is associated with worse prognosis, early predictive tools are needed. We aimed to use systematic literature review and advanced methods to create and validate a clinical tool for estimating individual patient risk of transition to SPMS over five years.

Methods: Data from the Jacobs Multiple Sclerosis Center (JMSC) and the Multiple Sclerosis Center Amsterdam (MSCA) was collected between 1994 and 2022.

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Introduction: eHealth seems promising in addressing challenges in the provision of care for Huntington's disease (HD) across Europe. By harnessing information and communication technologies, eHealth can partially relocate care from specialized centers to the patients' home, thereby increasing the availability and accessibility of specialty care services beyond regional borders. Previous research on eHealth (development) in HD is however limited, especially when it comes to including eHealth services specifically designed together with HD gene expansion carriers (HDGECs) and their partners to fit their needs and expectations.

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The subset of ovarian cancer (OC) diagnosed ≤ 30yo represents a distinct subgroup exhibiting disparities from late-onset OC in many aspects, including indefinite germline cancer predisposition. We performed DNA/RNA-WES with HLA-typing, PRS assessment and survival analysis in 123 early-onset OC-patients compared to histology/stage-matched late-onset and unselected OC-patients, and population-matched controls. Only 6/123(4.

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Endometrial stromal tumors are rare lesions with a diverse morphology, which may make achieving the correct diagnosis challenging in some cases. We report a case of a uterine mesenchymal tumor diagnosed as endometrial stromal nodule with a peculiar whorled morphology and GREB1::CTNNB1 fusion confirmed by transcriptome RNA sequencing. The tumor was sharply demarcated, lacked invasive growth, and had benign behavior, as the patient remained without disease recurrence 15 years later.

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Background: A laparoscopy-based scoring system was developed by Fagotti et al (Fagotti or Predictive Index value (PIV)score) based on the intraoperative presence or absence of carcinomatosis on predefined sites. Later, the authors updated the PIV score calculated only in the absence of one or both absolute criteria of nonresectability (mesenteric retraction and miliary carcinomatosis of the small bowel) (updated PIV model).

Objective: The aim was to demonstrate the noninferiority of ultrasound to other imaging methods (contrast enhanced computed tomography (CT) and whole-body diffusion-weighted magnetic resonance imaging (WB-DWI)/MRI) in predicting nonresectable tumor (defined as residual disease >1 cm) using the updated PIV model in patients with tubo-ovarian cancer.

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