16 research outputs found
Modeling the recovery of antropogenically acidified mountain waters
Souhrn disertace PĹ™edkládanádisertaÄŤnĂpráce se skládá z pÄ›ti rukopisĹŻpublikovanĂ˝chv recenzovanĂ˝ch odbomĂ˝chÄŤasopisech.TĂ©matickyje zaměřenana dopady antropogenniacidifikace na sladkovodnĂekosystĂ©myv ÄŚeskĂ©repub|ice a na Slovensku' Mode|oviirrĂpĹ™ispĂvá k pochopenĂprubÄ›hu procesĹŻvedoucĂch k zotavováni (recoveryy) tÄ›chto lokalit z acidifikace.StudiumvlivĹŻacidifikacena chemickĂ©a biologickĂ©sloĹľenivysokohors|oĂ˝ch jezerv Tatrácha na Ĺ umavÄ›má jiĹľ ÄŹouholetoutradici.oproti tomu dopadytohotojevu na pramennĂ©toky v horslcĂ˝cha wchovinnĂ˝ch oblastechÄŚn uyty rozpozniinyrelativnÄ› nedávno,a pĹ™islušnĂ©zmÄ›ny ve struktuĹ™epotoÄ›nĂhomakrozoobentosua chemismuvody jsou zniĂrnymĂ©nÄ›' Ve svĂ©práci pouĹľivrĂ'rndynamickĂ©modely (zahrnujĂcĂi moĹľnĂ©scĂ©nÄŹe budoucĂch klimatickĂ˝ch zmÄ›n) k hodnocenisouÄ›asnĂ©hostavu a budoucĂchtrendĹŻve zotavovánĂ acidifikovarrĂ˝chekosystĂ©mĹŻ,ke kterĂ©munynĂ dochazi v dĹŻsledkusnĂĹ˝enĂkyselĂ˝ch atĂŤnosferickĂ˝chimisi. Prvni kapitola práceje zaměřenana vliv nizkĂ©hopH na sloĹľenĂ makozoobentosuv acidifikovanĂ˝chpotocĂchv ÄŚeskĂ©republice.Druhá kapitolashrnuje akturĂ'lniĂşdajeo chemickĂ©msloĹ˝eni vody v91 tatranslcĂ˝chjezerech: data zr.2004 zachycujĂ situaci 15 let po Ă˝mamnĂ©m snĂĹľenĂatmosfĂ©rickĂ˝chimisĂ. Nás|edujici kapitola zahrnuje vĂ˝sledky biogeochemickĂ©homodelu MAGIC kalibrovanĂ©hona nÄ›kolika tatranskĂ˝chjezerech, a vyhodnocuje budoucĂ...11 Abstract In order for an economic system to function and produce goods and services necessary for meeting human needs, it behaves similarly to a living organism. It absorbs materials from the surrounding environment and transforms them into products, but ultimately all the materials are transformed into some kind of waste and emitted back into the environment. This flow of materials is referred to as industrial or socio-economic metabolism (Baccini and Brunner, 1991; Fischer-Kowalski and Haberl, 1993; Ayres and Simonis, 1994). Extraction of resources, consumption of materials and related emissions exert some pressure on the environment. So far, there has been a positive relation between meeting human needs and this pressure. The overall goal of developed countries within their strategies of sustainable development is to break the relation between pressure exerted on the environment and economic growth, which represents meeting of human needs and improvements in the standard of living. This phenomenon is called decoupling (EC, 2002, 2005, 2006; OECD, 2002; UN, 2002). One of the methods for assessing environmental pressure related to extraction and consumption of resources and materials is material flow analysis. In the case of economy- wide material flow analysis (EW-MFA), this method aims at...Katedra parazitologie a hydrobiologie (zrušena)Dep. of Parasitology and Hydrobiology (obsolete)PĹ™ĂrodovÄ›decká fakultaFaculty of Scienc
Brown and brook trout populations in the Tatra Mountain lakes (Slovakia, Poland) and contamination by long-range transported pollutants
Fish living in the extreme conditions of the Tatra Mountain lakes were evaluated from a biological point of view as well as an important biomarker of long-range transported pollutants. In Velke Hincovo pleso and in Morskie Oko, specimens of brown trout (Salmo trutta) of extraordinarily advanced age were found (ages of 18+ and 17+ years, respectively). The capture of a 17+ year-old brown trout in Morskie Oko (2400 g, 540 mm) indicated the presence of the so-called ferox life strategy. The growth of brook trout (Salvelinus fontinalis) was faster than the growth of brown trout in the younger year classes, and while the growth of brook trout stopped after the age of 5+, the growth of brown trout continued. Concentrations of long-range transported pollutants (HCHs, HCB, DDTs, PCBs, PBDEs, and trace metals) in the Tatra Mountain fish were mostly associated with fish age, body weight and length, type of fish tissue, and lake altitude. Persistent organic pollutants (POPs) in fish muscle were dominated by PCBs 138, 153, 180, and p,p’-DDE. Conversely, PBDEs concentrations ranged at substantially lower levels compared to other POPs. Altitude correlated significantly with concentrations of a-HCH, HCB, p,p’-DDT, p,p’-DDE, and with PCBs 28 and 52. The highest contents of trace metals were found in kidney and liver samples, with higher concentrations in Velke Hincovo pleso than in Morskie Oko. The overall highest trace metal concentration levels were found for Fe, Cu, and Zn. In comparison with other European mountain lakes, the Tatra Mountain lakes are among the more contaminated.Postprint (author’s final draft
Modeling the recovery of anthropogenically acidified mountain waters
Thesis Summary The five chapters of this thesis consist of manuscripts published in peer-reviewed journals, focused on the effects of anthropogenic acidification on freshwater ecosystems in the Czech Republic and Slovakia, and an attempt to understand the processes and time-frame of recovery using modeling. In the Tatra Mountains in Slovakia and the Bohemian Forest in the Czech Republic, high mountain lakes have been the focus of long-term studies on both the biological and chemical impacts of acidification. The effects of anthropogenic acidification on headwater streams in the mountains and highlands of the Czech Republic have been recognized more recently, and the resulting changes to the biological community and trends in chemical changes are less well- known. Dynamic modeling, combined with the incorporation of scenarios of possible climate change, is used to investigate the present status and future trends in recovery of these ecosystems after recent reductions in atmospheric acid deposition. The first chapter is a paper on the macroinvertebrate biota in atmospherically acidified streams in the Czech Republic. This paper shows the effect of low pH on the taxonomic composition in these streams. The second chapter is focused on the current (2004) chemical composition of 91 lakes in the Tatra Mountains,..
Modeling the recovery of anthropogenically acidified mountain waters
Thesis Summary The five chapters of this thesis consist of manuscripts published in peer-reviewed journals, focused on the effects of anthropogenic acidification on freshwater ecosystems in the Czech Republic and Slovakia, and an attempt to understand the processes and time-frame of recovery using modeling. In the Tatra Mountains in Slovakia and the Bohemian Forest in the Czech Republic, high mountain lakes have been the focus of long-term studies on both the biological and chemical impacts of acidification. The effects of anthropogenic acidification on headwater streams in the mountains and highlands of the Czech Republic have been recognized more recently, and the resulting changes to the biological community and trends in chemical changes are less well- known. Dynamic modeling, combined with the incorporation of scenarios of possible climate change, is used to investigate the present status and future trends in recovery of these ecosystems after recent reductions in atmospheric acid deposition. The first chapter is a paper on the macroinvertebrate biota in atmospherically acidified streams in the Czech Republic. This paper shows the effect of low pH on the taxonomic composition in these streams. The second chapter is focused on the current (2004) chemical composition of 91 lakes in the Tatra Mountains,..
Modeling the recovery of antropogenically acidified mountain waters
11 Abstract In order for an economic system to function and produce goods and services necessary for meeting human needs, it behaves similarly to a living organism. It absorbs materials from the surrounding environment and transforms them into products, but ultimately all the materials are transformed into some kind of waste and emitted back into the environment. This flow of materials is referred to as industrial or socio-economic metabolism (Baccini and Brunner, 1991; Fischer-Kowalski and Haberl, 1993; Ayres and Simonis, 1994). Extraction of resources, consumption of materials and related emissions exert some pressure on the environment. So far, there has been a positive relation between meeting human needs and this pressure. The overall goal of developed countries within their strategies of sustainable development is to break the relation between pressure exerted on the environment and economic growth, which represents meeting of human needs and improvements in the standard of living. This phenomenon is called decoupling (EC, 2002, 2005, 2006; OECD, 2002; UN, 2002). One of the methods for assessing environmental pressure related to extraction and consumption of resources and materials is material flow analysis. In the case of economy- wide material flow analysis (EW-MFA), this method aims at..
ModelovánĂ zotavovánĂ horskĂ˝ch povrchovĂ˝ch vod zasaĹľenĂ˝ch antropogennĂ acidifikacĂ
Thesis Summary The five chapters of this thesis consist of manuscripts published in peer-reviewed journals, focused on the effects of anthropogenic acidification on freshwater ecosystems in the Czech Republic and Slovakia, and an attempt to understand the processes and time-frame of recovery using modeling. In the Tatra Mountains in Slovakia and the Bohemian Forest in the Czech Republic, high mountain lakes have been the focus of long-term studies on both the biological and chemical impacts of acidification. The effects of anthropogenic acidification on headwater streams in the mountains and highlands of the Czech Republic have been recognized more recently, and the resulting changes to the biological community and trends in chemical changes are less well- known. Dynamic modeling, combined with the incorporation of scenarios of possible climate change, is used to investigate the present status and future trends in recovery of these ecosystems after recent reductions in atmospheric acid deposition. The first chapter is a paper on the macroinvertebrate biota in atmospherically acidified streams in the Czech Republic. This paper shows the effect of low pH on the taxonomic composition in these streams. The second chapter is focused on the current (2004) chemical composition of 91 lakes in the Tatra Mountains,...Souhrn disertace PĹ™edkládaná disertaÄŤnĂ práce se skládá z pÄ›ti rukopisĹŻ publikovanĂ˝ch v recenzovanĂ˝ch odbornĂ˝ch ÄŤasopisech. TĂ©maticky je zaměřena na dopady antropogennĂ acidifikace na sladkovodnĂ ekosystĂ©my v ÄŚeskĂ© republice a na Slovensku. ModelovánĂ pĹ™ispĂvá k pochopenĂ prĹŻbÄ›hu procesĹŻ vedoucĂch k zotavovánĂ (recoveryy) tÄ›chto lokalit z acidifikace. Studium vlivĹŻ acidifikace na chemickĂ© a biologickĂ© sloĹľenĂ vysokohorskĂ˝ch jezer v Tatrách a na Ĺ umavÄ› má jiĹľ dlouholetou tradici. Oproti tomu dopady tohoto jevu na pramennĂ© toky v horskĂ˝ch a vrchovinnĂ˝ch oblastech ÄŚR byly rozpoznány relativnÄ› nedávno, a pĹ™ĂslušnĂ© zmÄ›ny ve struktuĹ™e potoÄŤnĂho makrozoobentosu a chemismu vody jsou známy mĂ©nÄ›. Ve svĂ© práci pouĹľĂvám dynamickĂ© modely (zahrnujĂcĂ i moĹľnĂ© scĂ©náře budoucĂch klimatickĂ˝ch zmÄ›n) k hodnocenĂ souÄŤasnĂ©ho stavu a budoucĂch trendĹŻ ve zotavovánĂ acidifikovanĂ˝ch ekosystĂ©mĹŻ, ke kterĂ©mu nynĂ docházĂ v dĹŻsledku snĂĹľenĂ kyselĂ˝ch atmosfĂ©rickĂ˝ch imisĂ. PrvnĂ kapitola práce je zaměřena na vliv nĂzkĂ©ho pH na sloĹľenĂ makrozoobentosu v acidifikovanĂ˝ch potocĂch v ÄŚeskĂ© republice. Druhá kapitola shrnuje aktuálnĂ Ăşdaje o chemickĂ©m sloĹľenĂ vody v 91 tatranskĂ˝ch jezerech: data z r. 2004 zachycujĂ situaci 15 let po vĂ˝znamnĂ©m snĂĹľenĂ atmosfĂ©rickĂ˝ch imisĂ. NásledujĂcĂ kapitola zahrnuje vĂ˝sledky biogeochemickĂ©ho modelu MAGIC...Department of EcologyKatedra ekologieFaculty of SciencePĹ™ĂrodovÄ›decká fakult
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
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Previous issue date: 2012CAPES, CNPq, FIOCRUZFundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de GenĂ©tica MĂ©dica. Rio de Janeiro, RJ, BrasilUniversidade do Estado Rio de Janeiro. Faculdade de CiĂŞncias MĂ©dicas. Hospital Universitário Pedro Ernesto. Rio de Janeiro, RJ, BrasilUniversidade Federal do Rio de Janeiro. Instituto de QuĂmica. Departamento de BioquĂmica. LaboratĂłrio de Erros Inatos do Metabolismo. Rio de Janeiro, RJ, BrasilChambon Laboratory for Molecular Diagnostics, Prague, Czech RepublicChambon Laboratory for Molecular Diagnostics, Prague, Czech RepublicJena University Hospital, Friedrich Schiller University. Institute of Human Genetics. Kollegiengasse, GermanyJena University Hospital, Friedrich Schiller University. Institute of Human Genetics. Kollegiengasse, GermanyJena University Hospital, Friedrich Schiller University. Institute of Human Genetics. Kollegiengasse, GermanyFundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de GenĂ©tica MĂ©dica. Rio de Janeiro, RJ, BrasilBackground: Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the
resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller
than 5 Mb. Here we report on a young man with unexplained severe mental retardation, autism spectrum disorder,
congenital malformations comprising hypospadia and omphalocele, and episodes of high blood pressure.
An ~ 6 Mb interstitial deletion that includes the causative genes is identified by oligonucleotide-based aCGH.
Results: Our index case exhibited a de novo chromosomal abnormality at 2q22 [del(2)(q22.1q22.3)dn] which was
not visible at the 550 haploid band level. The deleted region includes eight genes: HNMT, SPOPL, NXPH2, LOC64702,
LRP1B, KYNU, ARHGAP15 and GTDC1.
Discussion: aCGH revealed an ~ 6 Mb deletion in 2q22.1 to 2q22.3 in an as-yet unique clinical case associated with
intellectual disability, congenital malformations and autism spectrum disorder. Interestingly, the deletion is
co-localized with a fragile site (FRA2K), which could be involved in the formation of this chromosomal aberration.
Further studies are needed to determine if deletions of 2q22.1 to 2q22.3 define a new microdeletion syndrome
Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient
Background: In acute myeloid leukemia (AML), the MDS1 and EVI1 complex locus - MECOM, also known as the ecotropic virus integration site 1 - EVI1, located in band 3q26, can be rearranged with a variety of partner chromosomes and partner genes. Here we report on a 57-year-old female with AML who presented with the rare translocation t(3;10) (q26;q21) involving the MECOM gene. Our aim was to identify the fusion partner on chromosome 10q21 and to characterize the precise nucleotide sequence of the chromosomal breakpoint. Methods: Cytogenetic and molecular-cytogenetic techniques, chromosome microdissection, next generation sequencing, long-range PCR and direct Sanger sequencing were used to map the chromosomal translocation. Results: Using a combination of cytogenetic and molecular approaches, we mapped the t(3;10)(q26;q21) to the single nucleotide level, revealing a fusion of the MECOM gene (3q26.2) and C10orf107 (10q21.2). Conclusions: The approach described here opens up new possibilities in characterizing acquired as well as congenital chromosomal aberrations. In addition, DNA sequences of chromosomal breakpoints may be a useful tool for unique molecular minimal residual disease target identification in acute leukemia patients
Brown and brook trout populations in the Tatra Mountain lakes (Slovakia, Poland) and contamination by long-range transported pollutants
Fish living in the extreme conditions of the Tatra Mountain lakes were evaluated from a biological point of view as well as an important biomarker of long-range transported pollutants. In Velke Hincovo pleso and in Morskie Oko, specimens of brown trout (Salmo trutta) of extraordinarily advanced age were found (ages of 18+ and 17+ years, respectively). The capture of a 17+ year-old brown trout in Morskie Oko (2400 g, 540 mm) indicated the presence of the so-called ferox life strategy. The growth of brook trout (Salvelinus fontinalis) was faster than the growth of brown trout in the younger year classes, and while the growth of brook trout stopped after the age of 5+, the growth of brown trout continued. Concentrations of long-range transported pollutants (HCHs, HCB, DDTs, PCBs, PBDEs, and trace metals) in the Tatra Mountain fish were mostly associated with fish age, body weight and length, type of fish tissue, and lake altitude. Persistent organic pollutants (POPs) in fish muscle were dominated by PCBs 138, 153, 180, and p,p’-DDE. Conversely, PBDEs concentrations ranged at substantially lower levels compared to other POPs. Altitude correlated significantly with concentrations of a-HCH, HCB, p,p’-DDT, p,p’-DDE, and with PCBs 28 and 52. The highest contents of trace metals were found in kidney and liver samples, with higher concentrations in Velke Hincovo pleso than in Morskie Oko. The overall highest trace metal concentration levels were found for Fe, Cu, and Zn. In comparison with other European mountain lakes, the Tatra Mountain lakes are among the more contaminated