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Molecular mechanisms of Diamond-Blackfan anemia
Handrková, Helena ; Petrák, Jiří (advisor) ; Šebela, Marek (referee) ; Trka, Jan (referee)
Diamond-Blackfan anemia (DBA) is a rare congenital syndrome that presents with ane- mia and selective deficiency of erythroid precursors, while other blood lineages are usu- ally unaffected. Approximately half of the patients display additional somatic anoma- lies and growth retardation. The therapy is mostly symptomatic and is dominated by corticosteroids, other modalities include regular blood transfusions or hematopoietic stem cell transplantation. At the beginning of this work, only two DBA causal genes were known, RPS19 and RPS24, being mutated in approximately 1/4 of all DBA patients. The goals of this work were to study the consequences of the known DBA causal mutations on cellular level and to find novel DBA causal genes. To date, over a half of DBA patients have been reported to carry a mutation in one of nine known DBA causal genes, including RPS17, RPL11 and RPL5, that are reported in this dissertation. All confirmed DBA causal genes encode for ribosomal proteins (RPs) that were essential for ribosome assembly. We further hypothesized a non- ribosomal protein participating in this process might be involved in DBA pathogenesis, too. In one DBA patient, we identified a rare sequence variant in one such candidate, a protein arginine methyltransferase 3 (PRMT3). We reported that the patient PRMT3...
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Toxic hemolytic anemias.
ZEMANOVÁ, Vendula
This thesis deals with toxic hemolytic anemias which are often unheeded. There are described laboratory signs of hemolytic anemias, their dividing into the various groups and it focuses mainly to toxic and drug-related hemolytic anemias and their causations.
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Effects of triazine based pesticides on fish
MALÝ, Vratislav
Influence of triazine based pesticide (Sencor 70 WG - active substance metribuzine) was assessed via biochemical and hematological blood profile determination of experimental fish. As experimental fish we used common carp (Cyprinus carpio L.) and rainbow trout (Oncorhynchus mykiss ). Before rating the Sencor 70 WG pesticide influence on biochemical and hematological blood profile we accomplished a preliminary test to determine a concentration range and after that a basic acute toxicity test to determine 96hLC50 value. Both fish samples fingerlings were used for performing the tests. After 96hLC50 determination two groups of experimental fish (aged 1-2 years) were under this concentration and one control group without the substance. The test was processed according to the OECD methodology No. 203. Fish dissection was performed after the test. The increased amount of phlegm of water consistency on the body surface was found out. The fish were of dark colour in contrast with the control group. The ventricle was larger and containing transudate. An outstanding vascular profusion of internal organs in the ventricle was found out. Biochemical profile of the rainbow trout (Oncorhynchus mykiss ) experimental group under 96 hour acute operation of pesticide Sencor 70 WG (89,3mg.kg-1) proved significant lowering (p<0,01) of total proteins (TP), triglycerides (TRIG), aspartate aminotransferase (AST), amonnia (NH3), alcaline phosphatase (ALP) and Ca2+ in the blood plasma in contrast with the control group. Hematological profile of the same group proved significant lowering (p<0,05) of the number of erythrocytes (Er), haematocrit (PCV), and significant increase (p<0,05) of erythrocyte haemoglobin (MCH) value in contrast with the control group. Biochemical profile of the common carp (Cyprinus carpio L.) experimental group under 96 hour acute operation of pesticide Sencor 70 WG (250,2 mg.l-1) proved significant lowering (p<0,01) of total proteins (TP), triglycerides (TRIG), lactate dehydrogenase (LDH), Ca2+ and inorganic phosphate (PHOS) and significant increase (p<0,01) of glukose (GLU) and amonnia (NH3) concentration in the blood plasma in contrast with the control group. Hematological profile of the same group proved significant lowering (p<0,01) of the haematocrit (PCV), erytrocyte haemoglobin (MCH), mean erytrocyte volume (MCV) and number of leukocytes (Leuko) in contrast with the control group.
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