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Study of transferrin as a marker of congenital disorders of glycosylation
Ondrušková, Nina ; Stiborová, Marie (advisor) ; Befekadu, Asfaw (referee)
Congenital disorders of glycosylation (CDG) represent a heterogeneous group of mul- tisystemic metabolic disorders which are caused by defects in biosynthetic pathways of glycoproteins. The screening test for N-glycosylation disorders is the analyses of sialylated isoforms of serum transferrin (Tf) by means of isoelectric focusing (IEF). Two distinct pathological IEF patterns of Tf are observed. A type I pattern is cha- racterized by a decrease of tetra- and an increase of di- and asialotransferrin, whereas a type II pattern shows in addition an increase of tri- and monosialotransferrin. The aims of diploma thesis were: 1) to evaluate reference range for spectrum of sialylated forms of Tf separated by IEF and 2) to perform biochemical and molecular analyses in three patients (P1-P3) with clinical suspicion for CDG. Serum and genomic DNA from three patients with clinical suspicion for CDG and family members of P1 were analysed. Sera from 99 healthy volunteers within the age range of 2-42 years served as a control group. Tf was analysed by IEF with direct immunofixation, SDS-PAGE and Western blot using specific antibody against human Tf (Dako). Profiles of Tf were quantified by AlphaEaseFC software (Alpha Innotech). Data were analysed by software STATISTICA 9.0 (StatSoft). TF a PMM2 genes were analysed...
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Anaemia focusing on microcytic anaemia
REMTOVÁ, Eliška
The theme of my bachelor thesis is focused on the anemia, especially microcytic anemia. The introduction describes only the general facts about this disease and further focuses only on the microcytic anemia. Every single type is described in the separate theoretical part. Iron deficiency anemia or anemia caused by the lack of iron is the most common type at all. It occurs in up to one third of the population in developing and also developed countries all over the world. I describe the second most common chronic disease anemia as well and then rarer thalassemia at the end of this paper. The practical part is devoted to analyze all of the collected data. At first the results of blood counts of the patients, who were examined by the Department of Clinical Hematology at the Ceske Budejovice Inc. hospital, are evaluated. The evaluation is performed on an automated hematology analyzer Unicel DxH 800 Beckman Coulter. I had examined the frequency of an anemic and subsequently microcytic patients from a total of 7,664 tested patients. The resulting number with this anemia was 28%. I had also focused on the evaluation of iron, transferrin and ferritin parameters which are determined on the analyzer ADVIA. I gained the necessary data at the Department of Clinical Chemistry of Ceske Budejovice Inc. hospital. The most important goal was to determine how many of microcytic patients were tested for iron deficiency. The resulting number was only 18% examined patients in this way. Then I had looked up how many of these patients were subsequently examined to transferrin and ferritin. There were many patients who were completely missing the results of these tests, so it was not possible to determine the exact number. Based on all these detected parameters I could evaluate the patients, who suffered the anemia and which type they suffered. The anemia of chronic disease was the most often type and it was found in 24 patients. The iron deficiency anemia suffered only 11 of the examined patients.
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Detekce transferinu v placentách z normálních a patologických těhotenství
Králová, Alena ; Světlíková, M. ; Madar, J. ; Ulčová-Gallová, Z. ; Bukovský, A. ; Pěknicová, Jana
The placenta is one of the important sites for iron metabolism in human. It transfers the iron from the mother to the fetus. One of the major iron transport proteins is transferrin, which is a blood plasma protein crucial for iron uptake. Its localization and expression may be one of the markers to distinguish placental dysfunction. Differences of transferrin expression were foundbetween normal and abnormal placentae. Variations of its expression were detected in villous syncytiotrophoblast, which is in direct contact with maternal blood. In normal placentae, the expression of transferrin in syncytium was lower comparing to placentae with distinct pathologies. The results indicate that in the case of abnormal pregnancies, the fetus may require higher levels of transferrin in order to prevent iron depletion due to the stress from the placenta dysfunction
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