Cílem studie byla analýza výsledků provádění screeningu vrozených vad (VV), geneticky podmíněných onemocnění (GPO) plodu a preimplantačního genetického testování embryí (PGT). Metodika: Retrospektivní analýza zdravotních služeb u 2637 těhotných z období leden – prosinec 2022. Výsledky: V rámci screeningu vrozených vad a geneticky podmíněných onemocnění plodu byla u 216 žen zjištěna abnormalita vyžadující další klinický management, u 15 (7 %) z nich byla diagnostikována vrozená vývojová vada plodu (Tab. 2). Z 377 punkcí oocytů provedených v rámci IVF cyklu bylo preimplantační genetické testování (PGT) indikováno ve 48 (12,7 %) případech, u 19 (5 %) případů bylo PGT indikováno na základě geneticky podmíněného onemocnění (GPO) (Tab. 3). Závěr: Screening vrozených vývojových vad a geneticky podmíněných onemocnění umožňuje následné řešení zjištěných patologií pomocí preimplantačního genetického testování embryí při plánování dalšího těhotenství či naplánování adekvátní prenatální diagnostiky v budoucím těhotenství.

The aim of the study was to analyze the results of the screening for birth defects, genetically determined diseases and preimplantation genetic testing of embryos. Methods: Retrospective analysis of health services for 2,637 pregnant women from January-December 2022. Results: In screening for birth defects and genetic fetal diseases, 216 woman were found to have an ab- normality requiring further clinical management, 15 (7%) of them were diagnosed with a congenital fetal developmental defect (Tab. 2). Among 377 ovarian punctions performed within IVF cycle, preimplantation genetic testing (PGT) was indicated in 48 (12.7%) cases and in 19 (5%) cases PGT was indicated on account of a genetic disorder (Tab. 3). Conclusion: screening for congenital developmental defects and genetic diseases allows subsequent mana- gement of the detected pathologies through preimplantation genetic testing of embryos when planning the next pregnancy or planning adequate prenatal diagnosis of future pregnancies.

Chromosomal mosaicism detected during preimplantation genetic testing for aneuploidy (PGT-A) and its impact on embryo implantation have been widely discussed, and healthy live births from mosaic embryos were reported by many groups. On the other hand, only very few studies have focused on segmental chromosome aneuploidies and their clinical impact. Eighty-nine embryos with various PGT-A results (trophectoderm 1: TE1) were re-analysed using a second trophectoderm biopsy (TE2) and the rest of the embryo (RE) for testing. Of 19 euploid TE1 biopsies, 18 were concordant across TE2 and RE. Similarly, whole chromosomal aneuploidies were concordant in 59 of 62 TE1-TE2 and 58 TE1-RE. In contrast, from 31 segmental aneuploidies detected in TE1, only 15 were observed again in TE2 and 14 in RE. If a TE1 segmental abnormality appeared again in TE2, it was almost always present in RE (17/18) as well. Moreover, when a TE1 segmental abnormality was not detected in TE2, in 12 out of 13 cases RE was also unaffected. Similarly, only 1 of 26 TE1 whole chromosome mosaics were repeated in TE2 and 7 in RE. Our study confirms that euploid and whole chromosomal aneuploidy results are highly predictive of the embryo. In contrast, mosaicism has a very low concordance rate. Most importantly, re-biopsy of embryos with segmental aneuploidies demonstrated that they are mostly not uniform across the embryo. Finally, in the case of segmental aneuploidy, the second biopsy enables an accurate prediction of the real status of the embryo and could be offered to patients undergoing PGT-A.

• MeSH
• aneuploidie * MeSH
• biopsie MeSH
• embryo savčí * MeSH
• genetické testování metody   MeSH
• lidé MeSH
• mozaicismus MeSH
• preimplantační diagnóza metody   MeSH
• reprodukovatelnost výsledků MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• validační studie MeSH

RESEARCH QUESTION: What is the incidence and origin of meiotic whole and segmental aneuploidies detected by karyomapping at a blastocyst stage in human-derived IVF embryos? What is the distribution of various types of errors, including rare chromosomal abnormalities? DESIGN: The incidence of chromosomal aneuploidies was assessed in 967 trophectoderm biopsies from 180 couples who underwent 215 cycles of IVF with preimplantation genetic testing for monogenetic disease with a known causal mutation with a mean maternal age of 32.7 years. DNA from both parents and a reference sample was genotyped together with the analysed trophectoderm samples by karyomapping (single-nucleotide-polymorphism-based array). RESULTS: Chromosomal abnormalities were detected in 31% of the analysed samples. At least one whole chromosomal aneuploidy was detected in 27.1% of the trophectoderm biopsies, whereas a segmental aneuploidy was detected in 5.1% of the trophectoderm biopsies. Our results reveal that segmental aneuploidies predominantly affect paternally derived chromosomes (70.4%; P < 0.01) compared with whole chromosomal aneuploidies that more frequently affect maternally derived chromosomes (90.1%; P < 0.0001). Also, the frequency of meiosis I (MI) and meiosis II (MII) errors was established in meiotic trisomies; MI errors were observed to be more frequent (n = 102/147 [69.4%]) than MII errors (n = 45/147 [30.6%]). CONCLUSIONS: Karyomapping is a robust method that is suitable for preimplantation genetic testing for monogenetic disease and for detecting meiotic aneuploidies, including meiotic segmental aneuploidies, and provides complex information about their parental origin. Our results revealed that segmental aneuploidy more frequently affects paternal chromosomes compared with whole chromosomal aneuploidy in human IVF embryos at the blastocyst stage.

• MeSH
• aneuploidie * MeSH
• chromozomální aberace * MeSH
• chromozomální poruchy epidemiologie   MeSH
• dospělí MeSH
• fertilizace in vitro * MeSH
• genetické testování MeSH
• incidence MeSH
• karyotypizace MeSH
• lidé MeSH
• meióza * MeSH
• preimplantační diagnóza metody   MeSH
• těhotenství MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The structure of forests is an important stabilizing factor regarding ongoing global climate and land use change. Biodiverse mountain forests with natural structure are one of the ecosystems most endangered by these problems. We focused on the mountain forest islands of European beech (Fagus sylvatica) and their role in the natural distribution of organisms. The study area was situated in the oldest Czech national park, Krkonoše (385 km2), which is the highest mountain ridge in the country. We studied multi-taxa (lichens, beetles and hymenopterans) responses to three hierarchical spatial levels of the environment: the topography was described by the elevation gradient; the patch structure was described by canopy openness, dead wood amounts, and Norway spruce (Picea abies) cover; and the tree level was described by species of the sampled tree and its diameter. Lichens preferred higher elevations, while insect groups responded conversely. Furthermore, insect groups were mainly influenced by the inner patch structure of beech islands. Lichens may be jeopardized due to the predicted future increase in temperatures, since they would need to shift toward higher altitudes. Insects may be mainly threatened in the future by land use changes (i.e., forest management) - as indicated by an interconnection of canopy openness and the amount of dead wood.

• MeSH
• biodiverzita * MeSH
• brouci klasifikace   MeSH
• Hymenoptera klasifikace   MeSH
• lesy * MeSH
• lišejníky klasifikace   MeSH
• prostorová analýza MeSH
• zachování přírodních zdrojů MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

Východiska: Asistovaná reprodukce, stejně jako samotné těhotenství u pacientek ohrožených karcinomem prsu či jinými dědičnými nádorovými onemocněními představuje jedno z velmi diskutovaných témat. Je nutno připustit, že v minulosti byl přístup k přání otěhotnět, případně léčbě neplodnosti u žen po léčbě karcinomu prsu více než zdrženlivý. Dostupné informace naznačují, že karcinom prsu, pokud to průběh léčby umožňuje, není kontraindikací k těhotenství ani k asistované reprodukci. Naopak, v současnosti přináší tento přístup možnost vyloučení přenosu genetického rizika na plod pomocí preimplantační genetické diagnostiky. Cíl: V tomto přehledovém článku si klademe za cíl shrnout dosavadní poznatky a publikované informace o rizicích a úskalích těhotenství pacientek ohrožených karcinomem prsu. Zároveň uvádíme současné možnosti a ideální postupy pro zachování plodnosti před plánovanou léčbou a pro provedení metod asistované reprodukce s využitím nejnovějších postupů, zaručujících co možná nejbezpečnější průběh. Ve druhé části práce je pak popsána moderní molekulárně genetická metoda karyomapping, jež přináší nové možnosti preimplantační genetické diagnostiky s cílem vyloučení zárodečné mutace v případě dědičných predispozic k nádorovým onemocněním. Rapidní vývoj metod preimplantační genetické diagnostiky je demonstrován především možností zachytit současně se sledovanou mutací také aneuploidie všech chromozomů a v neposlední řadě zkrácením doby nutné k přípravě metody na několik dní.

Background: Assisted reproduction, as well as pregnancy itself, in patients with breast cancer or other hereditary type of cancer, is a widely discussed topic. In the past, patients treated for breast cancer were rarely involved in the discussion about reproductive possibilities or infertility treatment. However, current knowledge suggests, that breast cancer is neither a contraindication to pregnancy, nor to assisted reproduction techniques. On the contrary, assisted reproduction and preimplantation genetic diagnosis methods might prevent the transmission of genetic risks to the fetus. Aim: In this review we summarize data concerning pregnancy risks in patients with increased risk of breast cancer. In addition, we introduce current possibilities and approaches to fertility preservation prior to assisted reproduction treatment as well as novel methods improving the safety of fertility treat­ment. In the second part of this review, we focus on karyomapping – an advanced molecular genetic tool for elimination of germinal mutations in patients with predisposition to cancer. Moreover, the rapid development of preimplantation genetic diagnosis methods contributes to detection of both chromosomal aneuploidy and causal mutations in a relatively short time-span. Key words: breast neoplasms – hereditary cancer syndromes – assisted reproduction – ovarian reserve – hormonal stimulation – preimplantation diagnosis – karyom The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 19. 10. 2015 Accepted: 20. 11. 2015

• Klíčová slova
• karyomapping,
• MeSH
• amenorea chemicky indukované   MeSH
• aneuploidie MeSH
• asistovaná reprodukce * MeSH
• dědičný syndrom nádoru prsu a vaječníků genetika   MeSH
• fertilizující látky ženské škodlivé účinky   MeSH
• genetické testování metody   MeSH
• indukce ovulace metody   škodlivé účinky   MeSH
• kryoprezervace MeSH
• lidé MeSH
• nádorové komplikace v těhotenství MeSH
• nádory prsu * genetika   MeSH
• odběr oocytu MeSH
• ovariální rezerva účinky léků   MeSH
• preimplantační diagnóza * metody   MeSH
• protinádorové látky škodlivé účinky   MeSH
• tamoxifen MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• přehledy MeSH

Truffles are prized and nutrition-rich edible hypogeous fungi. The aim of this study was a comprehensive investigation of chemical composition of Burgundy truffle (Tuber aestivum Vittad.). We tried to answer the question: what is the impact of the environment on the truffle quality. To know the nutritional value of Burgundy truffle we compared lipids, proteins, saccharides, polyphenolics, flavonoids, total sterols, ergosterol, volatile flavour and aroma compounds content in fruit bodies of the fungus collected in three different geographical regions, i.e., Poland, Slovakia, and Italy. A comparison of the above mentioned compounds is especially interesting due to environmental and climatic differences among the studied geographical regions. Results revealed that fruit bodies of T. aestivum from Poland and Slovakia possessed nearly similar content of proteins, total sterols, and saccharides. The fruiting bodies from Italy contained significantly larger amounts of most of the investigated compounds. In turn, Polish specimens had higher content of lipids and polyphenolics than Slovak and Italian ones. We have found higher similarity of volatile compounds composition between Polish and Italian specimens than those of Polish and Slovak origin.

• MeSH
• Ascomycota chemie   MeSH
• ekosystém * MeSH
• fungální proteiny chemie   izolace a purifikace   MeSH
• lipidy chemie   izolace a purifikace   MeSH
• polyfenoly chemie   izolace a purifikace   MeSH
• polysacharidy chemie   izolace a purifikace   MeSH
• steroly chemie   izolace a purifikace   MeSH
• těkavé organické sloučeniny chemie   izolace a purifikace   MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Geografické názvy
• Itálie MeSH
• Polsko MeSH
• Slovenská republika MeSH

The conservation of traditional fruit orchards might be considered to be a fashion, and many people might find it difficult to accept that these artificial habitats can be significant for overall biodiversity. The main aim of this study was to identify possible roles of traditional fruit orchards for dead wood-dependent (saproxylic) beetles. The study was performed in the Central European landscape in the Czech Republic, which was historically covered by lowland sparse deciduous woodlands. Window traps were used to catch saproxylic beetles in 25 traditional fruit orchards. The species richness, as one of the best indicators of biodiversity, was positively driven by very high canopy openness and the rising proportion of deciduous woodlands in the matrix of the surrounding landscape. Due to the disappearance of natural and semi-natural habitats (i.e., sparse deciduous woodlands) of saproxylic beetles, orchards might complement the functions of suitable habitat fragments as the last biotic islands in the matrix of the cultural Central European landscape.

• MeSH
• biodiverzita * MeSH
• brouci fyziologie   MeSH
• dřevo * MeSH
• ekosystém * MeSH
• stromy * MeSH
• zachování přírodních zdrojů MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

The interaction of arthropods with the environment and the management of their populations is a focus of the ecological agenda. Spatial autocorrelation and under-sampling may generate bias and, when they are ignored, it is hard to determine if results can in any way be trusted. Arthropod communities were studied during two seasons and using two methods: window and panel traps, in an area of ancient temperate lowland woodland of Zebracka (Czech Republic). The composition of arthropod communities was studied focusing on four site level variables (canopy openness, diameter in the breast height and height of tree, and water distance) and finally analysed using two approaches: with and without effects of spatial autocorrelation. I found that the proportion of variance explained by space cannot be ignored (≈20% in both years). Potential bias in analyses of the response of arthropods to site level variables without including spatial co-variables is well illustrated by redundancy analyses. Inclusion of space led to more accurate results, as water distance and tree diameter were significant, showing approximately the same ratio of explained variance and direction in both seasons. Results without spatial co-variables were much more disordered and were difficult to explain. This study showed that neglecting the effects of spatial autocorrelation could lead to wrong conclusions in site level studies and, furthermore, that inclusion of space may lead to more accurate and unambiguous outcomes. Rarefactions showed that lower sampling intensity, when appropriately designed, can produce sufficient results without exploitation of the environment.

• MeSH
• členovci fyziologie   MeSH
• ekosystém MeSH
• lidé MeSH
• mokřady MeSH
• odběr biologického vzorku MeSH
• populační dynamika MeSH
• prostorová analýza * MeSH
• roční období MeSH
• statistické modely * MeSH
• stromy fyziologie   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

• Publikační typ
• abstrakt z konference MeSH