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Impact of a hospital palliative care team on costs and quality of care of patients at the end of life.
Křemenová, Zuzana ; Rychlík, Ivan (advisor) ; Merta, Miroslav (referee) ; Bužgová, Radka (referee)
This dissertation thesis describes the end-of-life care in hospital setting and compare the dying phase with and without specialist palliative care support. The second part of the thesis focus on quality of care improvement by using patient reported outcome measures (PROMS). To increase the quality of symptom assessment in palliative care the routine use of PROMS is recommended. Aims The first study aimed to compare costs of terminal hospitalization and quality of care between the group of patients with and without support of a palliative care team. The second study aimed to provide translation, cultural adaptation and validation of IPOS- renal measure, which is patient reported outcome measure used for patients with advanced chronic renal disease. Methods The first study was a descriptive retrospective case-control study. We explored the difference in daily hospital costs between patients who died with and without the support of the hospital palliative care team. As secondary outcomes, we compared the groups over the duration of the terminal hospitalization, intensive care unit days, intravenous antibiotics, MR/CT scans, oncologic treatment, preferences and limitation of care and family support. In the second study the IPOS-renal was translated to Czech and culturally adapted using cognitive...
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The influence of gene polymorphisms on the progression of renal insufficiency
Maixnerová, Dita ; Merta, Miroslav (advisor) ; Kohoutová, Milada (referee) ; Nečas, Emanuel (referee)
I worked on the referred to dissertation thesis in the Department of Biology and Human Genetics in cooperation with the Department of Nephrology of General Teaching Hospital and the First School of Medicine at Charles University. I concentrated on the possible influence of gene polymorphisms on the progression of renal insufficiency of IgAN and ADPKD to ESRD. I investigated the gene polymorphisms of Endothelin and Megsin myself and I participated in examinations of other gene polymorphisms. In our study we were concerned with the gene polymorphisms of G198T, T-1370G a 3A/4A ET-1 and we did not find any differences by comparing genotype frequencies among the IgAN groups with normal renal function and ESRD. The haplotype analysis demonstrated the negative influence of GG4A haplotype (defined as G-198, G-1370 and 4 A allele). The association of GG4A haplotype with the progression of chronic glomerulonephritides, especially IgAN, might be explained by shared interaction of all ET-1 polymorphisms. Then we dealt with the research of C2093T, C2180T Megsin gene polymorphisms on the progression of IgAN in Czech patients. No obvious effect of these polymorphisms was found in single-gene or in haplotype analysis. Nevertheless, the Megsin haplotype reconstruction revealed that the TT haplotype (defined as T-2093,...
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Genetic basis of selected chronic nephropathies
Šafránková, Hana ; Merta, Miroslav (advisor) ; Otová, Berta (referee) ; Teplan, Vladimír (referee)
Keywords: nephrotic syndrome, FSGS, MCD, podocin, NPHS2, VEGF polymorphisms Nephrotic syndrome (NS), caused by minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) has about 20% of the genetic background caused by mutations in the NPHS2 gene encoding protein podocin that plays an important role in the kidney filtration barrier. The aim of this work is to introduce mutation analysis of the NPHS2 gene and to examine the sample of Czech patients with NS. We examined 71 patients with FSGS/MCD and subsequently, on the basis of these data we tested two common polymorphisms in NPHS2 (p.R229Q and p.P20L) in the group of patients with different glomerulonephritides (GN): IgA nephropathy (IGAN) (n = 169), membranous GN (MGN) (n = 46) and control group (n = 300). We also examined two polymorphisms located in the promoter of vascular endothelial growth factor (VEGF) (-2578 A/C, -1154 A/G) and influencing the level of its expression. VEGF is produced by specialized kidney cells called podocytes and has a function in the formation of blood vessels and capillary fenestration. The sample included 56 patients (pts) with FSGS/MCD, 113 pts with IGAN, 44 pts with MGN and 311 controls. No mutation in NPHS2 gene was found in patients with FSGS/MCD arising in adulthood. We detected one homozygous...
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Quality of life of dialysis patients
Brezaiová, Tamara ; Mareš, Jiří (advisor) ; Klicperová, Zuzana (referee) ; Merta, Miroslav (referee)
The aim of thesis is to map the quality of life of patients in chronic dialysis program. The theoretical part deals with chronic renal failure - causes, symptoms, hemodialysis - principles, chronic and acute complications, vascular approaches to enable dialysis, kidney transplantation. Further deals on quality of life in general, the definition of health and illness, a chronic disease such as strategy and its management, the psychological view of and dialysis patient stress during this therapy. The aim was to investigate the empirical quality of life of chronic dialysis patients, thein family background, occupation, activities, their subjective perception of physical and emotional condition. It used to do quantitative research was conducted at the dialysis center Fresenius Kolin and Pardubice.
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Renal agenesis
Svobodová, Iveta ; Musil, Zdeněk (advisor) ; Merta, Miroslav (referee)
Renal agenesis is relatively common, genetically determined, disease. Genes which lead to its origin are still unconfirmed. Subject of this study was to perform molecular-genetic analyses of two genes, which are candidate for origin of renal agenesis in humans, genes coding tyrosine kinase receptor RET and neurotrophic factor GDNF. Mutation analysis of 20 exons of RET and 3 exons of GDNF in group of 20 patients with diagnosed unilateral renal agenesis has been done. Numeric changes were also investigated. The aim of this work was to identify potential mutation of RET and GDNF genes and contribute to their association with renal agenesis formation. No pathogenic mutation has been found in the group of patients, only three known single-point polymorphisms in RET gene have been detected. Polymorphism rs1800860 (GCG-GCA, Ala-Ala 432) is situated in exon 7 and has been found in 9 of total 20 patients, thereof in two cases in homozygous state. Polymorphism rs1800861 (CTT-CTG, Leu-Leu 769) is located in exon 13 and has been identified in 3 of 20 patients, thereof one patient was homozygote for minority allele G. Polymorphism rs1800863 (TCC-TCG; Ser- Ser) in 15. exon has been found in 5 patients, at any time in heterozygous state. All cases are about common polymorphisms with frequency of minority allele...
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The influence of gene polymorphisms on the progression of renal insufficiency
Maixnerová, Dita ; Merta, Miroslav (advisor) ; Kohoutová, Milada (referee) ; Nečas, Emanuel (referee)
I worked on the referred to dissertation thesis in the Department of Biology and Human Genetics in cooperation with the Department of Nephrology of General Teaching Hospital and the First School of Medicine at Charles University. I concentrated on the possible influence of gene polymorphisms on the progression of renal insufficiency of IgAN and ADPKD to ESRD. I investigated the gene polymorphisms of Endothelin and Megsin myself and I participated in examinations of other gene polymorphisms. In our study we were concerned with the gene polymorphisms of G198T, T-1370G a 3A/4A ET-1 and we did not find any differences by comparing genotype frequencies among the IgAN groups with normal renal function and ESRD. The haplotype analysis demonstrated the negative influence of GG4A haplotype (defined as G-198, G-1370 and 4 A allele). The association of GG4A haplotype with the progression of chronic glomerulonephritides, especially IgAN, might be explained by shared interaction of all ET-1 polymorphisms. Then we dealt with the research of C2093T, C2180T Megsin gene polymorphisms on the progression of IgAN in Czech patients. No obvious effect of these polymorphisms was found in single-gene or in haplotype analysis. Nevertheless, the Megsin haplotype reconstruction revealed that the TT haplotype (defined as T-2093,...
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Correlation of genotype and phenotype in children with autosomal dominanat polycystic kidney disease
Fencl, Filip ; Seeman, Tomáš (advisor) ; Doležel, Zdeněk (referee) ; Merta, Miroslav (referee) ; Nečas, Emanuel (referee)
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited renal disorder with an incidence of 1:500-1:1000. It is characterized by progressive development of renal cysts leading to deterioration of renal function and chronic renal failure in adults. Other common renal complications are hypertension, proteinuria, macrohaematuria and urinary tract infections. Extrarenal complications include the cardiovascular system, gastrointestinal system and connective tissue abnormalities - most common are cardiac valve abnormalities, cerebral berry aneurysms and hepatic, pancreatic or spleen cysts, and herniae of the anterior abdominal wall. ADPKD is caused by mutation in one of two known genes - PKD1 (85% of patients) or PKD2 (14%). A proposed third gene PKD3 (about 1%) has not yet been localised. Many studies in adults have shown that patients with mutations in the PKD2 gene have a better prognosis than PKD1 patients. The mean age at end stage renal disease (ESRD) or death was 53 yrs in PKD1 and 69 yrs in PKD2, the mean age at ESRD in PKD1 was 54 yrs, in PKD2 74 yrs and the patients with PKD1 mutations had a four times higher prevalence of arterial hypertension. The cyst number and the volume of the cysts are higher in PKD1 than in PKD2 patients. Several studies have...
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