https://hdl.handle.net/20.500.14178/908 2026-07-26T15:25:28Z 2026-07-26T15:25:28Z Slabá, Jitka Jírová, Jitka Šťastná, Anna Kocourková, Jiřina https://hdl.handle.net/20.500.14178/3883 2026-07-25T01:00:28Z 2026-01-01T00:00:00Z

Exploring the full spectrum of reproductive experiences Slabá, Jitka; Jírová, Jitka; Šťastná, Anna; Kocourková, Jiřina Objective: The study examines changes across cohorts in terms of the timing and frequency of the full spectrum of reproductive events and explores whether these reproductive trajectories reflect broader trends towards the destandardisation of family formation. Furthermore, the study assesses the quality and limitations of Czech health registry data by comparing them with official vital statistics. Background: Analysing fertility alone is insufficient with respect to understanding individual reproductive trajectories since reproductive experiences are interconnected across the lifespan and may be influenced by other reproductive events that affect both the tempo and the quantum - especially within the context of fertility postponement.Method: This study employs individual data obtained from the Czech National Health Information System (NHIS) that enable the holistic analysis of reproductive trajectories including live births, induced abortions, in vitro fertilisation, miscarriages and stillbirths across selected cohorts of women (1976-1991).Results: The younger cohorts experienced delayed and less frequent reproductive events. However, the lower incidence of adverse events partly reflected fewer conceptions due to the postponement of reproduction to older ages. The most common combination of event types involved live births with induced abortions or miscarriages. Reproductive trajectories were found to diversify with age but exhibited limited variation across the cohorts, and an early live birth remained linked to higher completed fertility. The NHIS data were largely in line with the vital statistics, with the moderate underestimation of live births and the under-reporting of early miscarriages and induced abortions.Conclusion: The findings highlight the potential and limitations of health registry data in terms of capturing the full spectrum of reproductive events. Forming a deeper understanding of women's reproductive trajectories and experiences, enabled via the use of linked health register data, is essential in terms of developing policies on reproductive health and rights in the context of declining fertility levels and the postponement of childbearing to later ages.

2026-01-01T00:00:00Z Vilímek, Vít Kropáček, Jan Chowdhury, Arindam Baťka, Jan De, Sunil Kumar https://hdl.handle.net/20.500.14178/3882 2026-07-25T01:00:31Z 2026-01-01T00:00:00Z

Analysis of triggering factors behind the October 2023 South Lhonak GLOF event in the Sikkim Himalaya using multiple remote sensing data Vilímek, Vít; Kropáček, Jan; Chowdhury, Arindam; Baťka, Jan; De, Sunil Kumar A catastrophic Glacial Lake Outburst Flood (GLOF) occurred from the South Lhonak Glacial Lake (SLGL) in the Sikkim Himalaya between October 3 and 4, 2023, highlighting the urgent need to understand its triggering mechanisms. Given the inaccessibility of the lake region, we employed multiple state-of-the-art remote sensing approaches, including optical image interpretation, interferometric coherence and geospatial analysis, to examine all plausible triggering mechanisms while systematically eliminating non-contributing factors. Our primary objective was to evaluate the potential triggers, with particular focus on a landslide originating from the left lateral moraine, which appears to have been the direct cause of the GLOF. The estimated landslide volume was similar to 13.1 +/- 2.7 x 10(6) m(3). Subsequent analysis aimed to determine the underlying cause of this landslide. Results indicate that increased inflow-comprising both surface runoff and subsurface seepage, into the left lateral moraine significantly elevated slope saturation, thereby compromising stability and triggering the failure. Other possible contributors were also investigated but found to have negligible or no influence on the event. These included hydrostatic pressure from the adjacent North Lhonak Glacier, a potential outburst from the North Lhonak Glacial Lake (NLGL), blockage of the SLGL outlet by landslide, seismic activity, and precipitation events.

2026-01-01T00:00:00Z Zimmann, Felix Banik, Poulami Kubovčiak, Jan Delattre, Mathys Thakur, Prasoon K. Čapek, Martin Kolář, Michal Hrubá, Eva Dobrovolný, Robert Cvačková, Zuzana Bárta, Tomáš Staněk, David https://hdl.handle.net/20.500.14178/3880 2026-07-23T01:00:34Z 2026-01-01T00:00:00Z

PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects Zimmann, Felix; Banik, Poulami; Kubovčiak, Jan; Delattre, Mathys; Thakur, Prasoon K.; Čapek, Martin; Kolář, Michal; Hrubá, Eva; Dobrovolný, Robert; Cvačková, Zuzana; Bárta, Tomáš; Staněk, David Retinitis pigmentosa (RP) is an inherited retinal disorder characterized by the progressive loss of photoreceptors that currently lacks effective treatment. Here, we investigated the effects of the PRPF8-Y2334N variant on neural retina cells using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. Expression of PRPF8-Y2334N variant resulted in photoreceptor defects, including thinning of the outer segment layer. This indicates that the neural retina is impacted independently of retinal pigment epithelium (RPE). At the molecular level, we observed relatively minor changes in mRNA expression in multiple retinal cells. We also found splicing alterations in genes associated with neural and retinal diseases, including those involved in intraflagellar transport, suggesting that these genes may represent common targets of splicing factor mutations. Finally, we detected the misexpression of several circular RNAs (circRNAs), which could serve as early biomarkers of splicing defects caused by RP mutations. Together, we present a model of RP that recapitulates photoreceptor degeneration and demonstrates that these defects are independent of RPE degeneration.

2026-01-01T00:00:00Z Leung, Nelson Hnízda, Aleš McPhail, Ellen D. Dasari, Surendra Nosková, Lenka Vyleťal, Petr Mikšátko, Jiří Piherová, Lenka Kmochová, Tereza Mušálková, Dita Vaníčková, Zdislava Radina, Martin Zima, Tomáš Hodaňová, Kateřina Hartmannová, Hana Stránecký, Viktor Nasr, Samih H. Ryšavá, Romana Živná, Martina Sikora, Jakub Theis, Jason D. Vrana, Julie A. Buadi, Francis K. Crooke, Stanley T. Bleyer, Anthony Kmoch, Stanislav https://hdl.handle.net/20.500.14178/3877 2026-07-21T01:00:46Z 2026-01-01T00:00:00Z

A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis Leung, Nelson; Hnízda, Aleš; McPhail, Ellen D.; Dasari, Surendra; Nosková, Lenka; Vyleťal, Petr; Mikšátko, Jiří; Piherová, Lenka; Kmochová, Tereza; Mušálková, Dita; Vaníčková, Zdislava; Radina, Martin; Zima, Tomáš; Hodaňová, Kateřina; Hartmannová, Hana; Stránecký, Viktor; Nasr, Samih H.; Ryšavá, Romana; Živná, Martina; Sikora, Jakub; Theis, Jason D.; Vrana, Julie A.; Buadi, Francis K.; Crooke, Stanley T.; Bleyer, Anthony; Kmoch, Stanislav In summary, guided by the patient's clinical course and diagnostic challenges, we report, for the first time, a family with autosomal dominant hereditary AA amyloidosis caused by a heterozygous SAA1 missense mutation, p.D34V. This mutation alters the primary structure of SAA1, dominantly enhances its aggregation, and produces a highly amyloidogenic protein capable of forming amyloid even at normal plasma SAA levels, affecting patients in their 20s and 30s. Importantly, the mutant protein escapes detection by routine clinical MS/MS amyloid typing because of its location between 2 trypsin cleavage sites. These findings highlight the need for genetic testing in AA amyloidosis without an inflammatory cause and caution that segmental duplications within SAA genes may complicate variant calling from short-read sequencing, further challenging diagnosis. Because of the unique pathogenesis of this family, the traditional immunosuppressive therapy used in AA amyloidosis would have no effect because the SAA levels were already low or normal. A novel approach to AA amyloidosis therapy would be required to treat members of this family and others like them.

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