Publications by authors named "A Jezela-Stanek"
Pancreatic cancer is a common cancer with a very poor prognosis and aggressive course. The main reason for the highly unfavorable prognosis of patients with pancreatic cancer is its long-term asymptomatic development, which results in the diagnosis being made at a stage when the cancer process is significantly advanced. Despite extensive research in the field of effective diagnosis and treatment of this cancer, patient survival rates are increasing slowly and insignificantly.
View Article and Find Full Text PDFMolecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Orphanet J Rare Dis
November 2024
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic process is challenging and before implementation of the next generation sequencing, was mostly symptomatic, not causal, which limited research on those diseases.
View Article and Find Full Text PDF[Genetic and molecular backgrounds of the development of glioblastoma].
Postepy Biochem
January 2024
Article Synopsis
- Stage IV glioblastoma is the most common and aggressive brain tumor, leading to a poor prognosis with typical survival of only a few months despite treatments like surgery, radiation, and chemotherapy.
- The development of this tumor is linked to various genetic mutations, including those in key protein genes and loss of heterozygosity on certain chromosomes, though some mutations can enhance patient survival.
- Current treatment strategies include alternating electric field therapy and new immunotherapy options, as glioblastoma cells often resist traditional anticancer drugs.
Article Synopsis
- Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
- To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
- The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from abnormal mitochondrial function. Currently, there is no causal treatment for MDs. The aim of the study was to assess the effectiveness and safety of the ketogenic diet (KD) in patients with MD and to analyse selected biochemical and clinical parameters evaluating the effectiveness of KD treatment in patients with MDs.
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