المؤلفون: Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, Jana Soukupova

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Ovarian cancer, Early-onset, Germline whole exome sequencing, Polygenic risk score, HLA, Mutation burden, Medicine, Science

الوصف: Abstract 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(4.9%) early-onset OC-patients carried a germline pathogenic variant (GPV) in high-penetrance OC-predisposition genes. Nevertheless, our comprehensive germline analysis of early-onset OC-patients revealed two divergent trajectories of potential germline susceptibility. Firstly, overrepresentation analysis highlighted a connection to breast cancer (BC) that was supported by the CHEK2 GPV enrichment in early-onset OC(p = 1.2 × 10–4), and the presumably BC-specific PRS313, which successfully stratified early-onset OC-patients from controls(p = 0.03). The second avenue pointed towards the impaired immune response, indicated by LY75-CD302 GPV(p = 8.3 × 10–4) and diminished HLA diversity compared with controls(p = 3 × 10–7). Furthermore, we found a significantly higher overall GPV burden in early-onset OC-patients compared to controls(p = 3.8 × 10–4). The genetic predisposition to early-onset OC appears to be a heterogeneous and complex process that goes beyond the traditional Mendelian monogenic understanding of hereditary cancer predisposition, with a significant role of the immune system. We speculate that rather a cumulative overall GPV burden than specific GPV may potentially increase OC risk, concomitantly with reduced HLA diversity.

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/ad5550950aed42c6b56e4a609805f4e6

المؤلفون: Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova

المصدر: Breast, Vol 75, Iss , Pp 103721- (2024)

مصطلحات موضوعية: Deep intronic CHEK2 variant, Breast cancer, NGS, RNA analysis, Genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

الوصف: 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.Tyr337PhefsTer37).The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors.Based on these observations, we classified this variant as likely pathogenic.

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0960977624000523; https://doaj.org/toc/1532-3080

URL الوصول: https://doaj.org/article/550a6d19812d49439f776d55972c1a43

المؤلفون: Petra Hrabalova, Romana Bohuslavova, Katerina Matejkova, Frantisek Papousek, David Sedmera, Pavel Abaffy, Frantisek Kolar, Gabriela Pavlinkova

المصدر: Cardiovascular Diabetology, Vol 22, Iss 1, Pp 1-21 (2023)

مصطلحات موضوعية: Cardiac function, Inflammation, Diabetic cardiomyopathy, Collagen deposition, Sympathetic neurons, Diseases of the circulatory (Cardiovascular) system, RC666-701

الوصف: Abstract Background An altered sympathetic nervous system is implicated in many cardiac pathologies, ranging from sudden infant death syndrome to common diseases of adulthood such as hypertension, myocardial ischemia, cardiac arrhythmias, myocardial infarction, and heart failure. Although the mechanisms responsible for disruption of this well-organized system are the subject of intensive investigations, the exact processes controlling the cardiac sympathetic nervous system are still not fully understood. A conditional knockout of the Hif1a gene was reported to affect the development of sympathetic ganglia and sympathetic innervation of the heart. This study characterized how the combination of HIF-1α deficiency and streptozotocin (STZ)-induced diabetes affects the cardiac sympathetic nervous system and heart function of adult animals. Methods Molecular characteristics of Hif1a deficient sympathetic neurons were identified by RNA sequencing. Diabetes was induced in Hif1a knockout and control mice by low doses of STZ treatment. Heart function was assessed by echocardiography. Mechanisms involved in adverse structural remodeling of the myocardium, i.e. advanced glycation end products, fibrosis, cell death, and inflammation, was assessed by immunohistological analyses. Results We demonstrated that the deletion of Hif1a alters the transcriptome of sympathetic neurons, and that diabetic mice with the Hif1a-deficient sympathetic system have significant systolic dysfunction, worsened cardiac sympathetic innervation, and structural remodeling of the myocardium. Conclusions We provide evidence that the combination of diabetes and the Hif1a deficient sympathetic nervous system results in compromised cardiac performance and accelerated adverse myocardial remodeling, associated with the progression of diabetic cardiomyopathy.

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-2840

URL الوصول: https://doaj.org/article/e207b91641e44281af0701448352b78d

المؤلفون: Kateřina Matějková, Martin Křížek, Eva Dadáková, František Vácha, Tamara Pelikánová

المصدر: Czech Journal of Food Sciences, Vol 38, Iss 3, Pp 164-170 (2020)

مصطلحات موضوعية: polyamines, putrescine, histamine, fish quality, shelf life, Agriculture

الوصف: Contents of eight biogenic amines (putrescine, cadaverine, spermidine, spermine, histamine, tyramine, tryptamine and phenylethylamine) were determined in vacuum-packed fillets of rainbow trout (Oncorhynchus mykiss). Fish flesh was treated using a solution of chitosan (2%, w/v) or monoacylglycerols (monocaprylin C8, monocaprin C10, 5%, w/v). The control and treated packs were stored at 3.5 °C for up to 25 days. Samples of good quality did not contain more than 30 mg kg-1 of either putrescine or cadaverine. Exceeding this limit was usually followed by a worsening of the sensory properties of samples. Chitosan was found to be the most potent additive, prolonging the storage time of fillets by approximately four times, compared to control samples. Histamine was not found in any sample treated with chitosan. of the monoacylglycerols, C8 was more efficient compared to C10. All additives are easily applicable to the surface of fish flesh.

وصف الملف: electronic resource

Relation: https://cjfs.agriculturejournals.cz/artkey/cjf-202003-0005_effects-of-monoacylglycerols-and-chitosan-on-the-biogenic-amine-formation-in-the-flesh-of-rainbow-trout-oncorh.php; https://doaj.org/toc/1212-1800; https://doaj.org/toc/1805-9317

URL الوصول: https://doaj.org/article/ad7cb04005514d1db0d6cb1f31862db6

المؤلفون: Monika SABOLOVÁ, Štěpán CZORNYJ, Jakub FIŠNAR, Marek DOLEŽAL, Dominika SOSNOVÁ, Kateřina MATĚJKOVÁ, Zuzana RÉBLOVÁ

المصدر: Czech Journal of Food Sciences, Vol 36, Iss 5, Pp 392-402 (2018)

مصطلحات موضوعية: fatty acids, french fries, polymerized triacylglycerols, potato chips, vitamin e, Agriculture

الوصف: In the scientific literature, there is not reliable information about the vitamin E content of commercially prepared fried foods. Therefore, tocochromanols were determined in 44 samples of french fries and 33 samples of potato chips and similar fried snacks. The total tocochromanol content of the french fries varied in the range of 1.7-96.9 mg/kg, α-tocopherol 0.3-76.1 mg/kg, and vitamin E (expressed in α-tocopherol equivalents) 0.6-76.4 mg/kg. The total content of tocochromanols in the fried snack products varied in the range of 39.9-204.6 mg/kg, α-tocopherol 20.4-133.7 mg kg, and vitamin E 29.8-134.6 mg α-tocopherol equivalent/kg. After a comparison of fat content, and taking into account the reference intake of fat and vitamin E, the french fries were generally a worse source of vitamin E than fat. The fried snack products were usually a better source of vitamin E than fat. In the both types of fried foods, the total content of tocochromanols was most influenced by the total content of fat. The content of α-tocopherol and the vitamin E content were mainly affected by the kind of fat (oil) used for frying.

وصف الملف: electronic resource

Relation: https://cjfs.agriculturejournals.cz/artkey/cjf-201805-0006_tocochromanol-content-in-commercially-prepared-fried-foods.php; https://doaj.org/toc/1212-1800; https://doaj.org/toc/1805-9317

URL الوصول: https://doaj.org/article/73698eeeedd54f94a646454a0a8dac8c