Publications by authors named "Tomas Zima"

Background: Diabetes mellitus (DM) significantly impacts global health and economies. Despite various therapies, managing DM remains challenging. Bariatric surgery has shown efficacy in obese patients with type 2 diabetes mellitus (T2DM), but its utilization remains low.

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Background: Juvenile granulosa cell tumor (JGCT) of the ovary is a rare tumor with distinct clinicopathological and hormonal features primarily affecting young women and children. We conducted a complex clinicopathological, immunohistochemical, and molecular analysis of five cases of JGCT.

Methods: The immunohistochemical examination was performed with 32 markers, including markers that have not been previously investigated.

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  • MUC1 and UMOD pathogenic variants are linked to autosomal dominant tubulointerstitial kidney disease (ADTKD), with MUC1 associated with a significant reduction in mucin-1 production.
  • A survey conducted among ADTKD patients revealed that those with ADTKD-MUC1 had a higher rate of previous COVID-19 infections and COVID-related deaths compared to ADTKD-UMOD individuals.
  • The study concluded that individuals with ADTKD-MUC1 are eight times more likely to die from COVID-19, suggesting that lower mucin-1 levels may contribute to this increased risk.
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  • - Uterine sarcomas with KAT6B/A::KANSL1 fusion are a new type of tumor that show a mix of traits from low-grade endometrial stromal sarcomas and smooth muscle tumors, which can confuse initial diagnoses.
  • - A study involving 9 such cases found common features like expression of smooth muscle and endometrial stromal markers, as well as the presence of the KAT6B/A::KANSL1 fusion in all tumors.
  • - Despite their bland appearance, these tumors can be aggressive, with some patients experiencing severe outcomes, underscoring the need for accurate recognition and diagnosis for better treatment approaches.
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  • About 95% of AGCT cases carry the FOXL2 p.C134W mutation, while TERT promoter alterations are associated with worse survival outcomes.
  • This study analyzed 183 primary and 44 recurrent AGCTs, revealing potential prognostic implications of FOXO1 mutations and confirming high rates of FOXL2 mutations, while uncovering various other genetic mutations associated with AGCT recurrence.
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  • This study analyzes 37 ovarian Sertoli-Leydig cell tumors (SLCT) with a focus on their morphology, immunohistochemistry, and molecular features, categorizing them into well, moderately, and poorly differentiated tumors.
  • High levels of sex cord markers were found, along with variable expression of other markers, and notable mutations like DICER1 (54.5%) and FOXL2 (6%) were identified, suggesting important diagnostic and predictive implications.
  • Differences in mRNA expression profiles between DICER1 and non-DICER1 tumors highlight the distinct molecular characteristics of SLCTs, indicating that well-differentiated tumors could represent a unique subtype apart from the others.
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The 2024 Kidney Disease: Improving Global Outcomes (KDIGO) guidelines for chronic kidney disease (CKD) evaluation and management bring important updates, particularly for European laboratories. These guidelines emphasize the need for harmonization in CKD testing, promoting the use of regional equations. In Europe, the European Kidney Function Consortium (EKFC) equation is particularly suited for European populations, particularly compared to the CKD-EPI 2021 race-free equation.

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Background And Aims: Neurodegenerative disorders affecting the brain and spinal cord are caused by a large number of factors. More recently, imbalances in gut microbiota are found to be one factor linked directly to neurological dysfunction. Probiotics prevent cognitive decline.

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  • Value-based laboratory medicine focuses on improving patient outcomes by enhancing the clinical utility of diagnostic tests while optimizing resources and reducing costs.
  • Key elements include the organization of diagnostics, translating lab data into meaningful clinical information, and addressing ethical considerations such as patient empowerment and big data analysis.
  • The paper summarizes insights from the EFLM Strategic Conference and highlights the importance of education, technological advancements, and future regulations in shaping the profession.
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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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Background: and pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). is expressed in kidney, nasal mucosa and respiratory tract, while is expressed only in kidney. Due to haplo-insufficiency ADTKD- patients produce approximately 50% of normal mucin-1.

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Background: The polygenic risk score (PRS) allows the quantification of the polygenic effect of many low-penetrance alleles on the risk of breast cancer (BC). This study aimed to evaluate the performance of two sets comprising 77 or 313 low-penetrance loci (PRS77 and PRS313) in patients with BC in the Czech population.

Methods: In a retrospective case-control study, variants were genotyped from both the PRS77 and PRS313 sets in 1329 patients with BC and 1324 noncancer controls, all women without germline pathogenic variants in BC predisposition genes.

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Lipidome perturbation occurring during meta-inflammation is associated to left ventricle (LV) remodeling though the activation of the NLRP3 inflammasome, a key regulator of chronic inflammation in obesity-related disorders. Little is known about phosphatidylcholine (PC) and phosphatidylethanolamine (PE) as DAMP-induced NLRP3 inflammasome. Our study is aimed to evaluate if a systemic reduction of PC/PE molar ratio can affect NLRP3 plasma levels in cardiovascular disease (CVD) patients with insulin resistance (IR) risk.

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Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.

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Low-grade serous carcinoma (LGSC) may develop from serous borderline tumor (SBT) tissue, where the micropapillary type (mSBT) presents the highest risk for progression. The sensitivity of LGSC to standard chemotherapy is limited, so alternative therapeutic approaches, including targeted treatment, are needed. However, knowledge about the molecular landscape of LGSC and mSBT is limited.

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Male breast cancer (mBC) is a rare cancer diagnosis that constitutes less than 1 % of all breast cancer cases globally. Genetic factors play an important role in the mBC risk. Germline pathogenic variants (PVs) in cancer predisposition genes could be identified in about 15 % of cases.

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Surgery is associated with alterations of alarmins' and related molecules' levels. The aim of this study was to investigate which biomarkers are most involved in surgery. The studied group consisted of 58 patients with inguinal or umbilical hernia or cholecystolithiasis and 21 healthy controls for compa-rison.

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Aims: Retinoids participate in multiple key processes in the human body e.g., vision, cell differentiation and embryonic development.

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Objective: The management and surveillance of glandular pre-cancerous lesions of the uterine cervix present distinct challenges compared with squamous lesions, primarily attributed to the lower effectiveness of diagnostic methods such as cytology or colposcopy. This study aimed to investigate the long-term safety of fertility-sparing treatment for adenocarcinoma in situ and microinvasive adenocarcinoma of the cervix, while identifying factors associated with recurrence, with a particular emphasis on the role of human papillomavirus (HPV) testing.

Methods: We retrospectively reviewed data from all patients with histopathologically confirmed adenocarcinoma in situ or microinvasive cervical adenocarcinoma who received treatment at a single center between 2002 and 2023.

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Purpose: The aim of this study was to investigate whether there is any association between the levels of the angiogenic growth factors and the vascular oxygen saturation in eyes with diabetic retinopathy.

Methods: The study was designed as a prospective trial. The cohort consisted of 29 diabetic patients with scheduled vitreous procedures (intravitreal injection or pars plana vitrectomy).

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Objectives: Chronic kidney disease (CKD) is a global health issue, ranking as the third leading cause of death worldwide. CKD diagnosis and management depend on clinical laboratory tests, necessitating consistency for precise patient care. Global harmonization of CKD testing through clinical practice guidelines (CPGs) is recommended.

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Ovarian clear cell carcinoma (OCCC) is a subtype of ovarian carcinoma characterized by unique biological features and highly malignant characteristics including low chemosensitivity. Therefore, new therapeutic targets are needed. These could include the downstream pathways of receptor tyrosine kinases, especially the human epidermal growth factor receptor 2 (HER2).

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In gynecological neoplasms, immunohistochemical (IHC) expression of p53 is generally an accurate predictor of TP53 mutation status if correctly interpreted by the pathologist. However, the literature concerning cut-offs, frequency and prognostic significance of p53 staining in ovarian mucinous tumours is limited and heterogeneous. We performed an analysis of 123 primary ovarian mucinous tumours including mucinous borderline tumours (MBT), mucinous carcinomas (MC), and tumours with equivocal features between MBT and MC.

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