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Genetic background of liver cirrhosis complications
Šenkeříková, Renáta ; Špičák, Julius (advisor) ; Brůha, Radan (referee) ; Husová, Libuše (referee)
Liver cirrhosis represents the end stage of most chronic liver diseases. The course of the disease and its complications can be significantly influenced by host genetic factors and the severity of portal hypertension (PH). The aim of the study was to describe the role of genetic factors influencing the progression and complications of liver disease and to determine the role of non-invasive assessment of the stage of liver fibrosis and severity of PH and their correlation with portosystemic gradient (HVPG) measurements. We first focused on the role of allelic variants in TLR4 signalling pathway genes in the risk of occurrence of severe bacterial infections in patients with advanced liver cirrhosis, liver transplant (LT) candidates. We found that the TNFA c.-238G/A promoter variant significantly reduced the risk of bacterial infections and was associated with a decreased mortality rate. We further investigated the role of the variant G allele in PNPLA3 gene in the progression of chronic liver failure and the need for LT in patients with liver cirrhosis due to HCV infection. As a result, we found that the carriage of the variant G allele led to a faster progression of chronic liver failure and the need for LT at a younger age. Third, we investigated whether the efficacy of triple combination treatment...
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Genetic factors in the etiology of migraine
Skoblíková, Daniela ; Šolc, Roman (advisor) ; Mravec Bencúrová, Dominika (referee)
Migraine is a chronic condition with a significant prevalence in the human population- Its aetiology involves a combination of both environmental and genetic factors; however, the primary cause is still not entirely clear. The pathophysiological mechanism of the brain, which forms the basis of migraine aura, is considered to be a transient wave of neuronal depolarization in the cortex, known as cortical spreading depression (CSD). Despite considerable discrepancies, there is a wealth of information on suspected or already identified genes whose mutations could potentially be responsible for initiating the migraine state. Currently, there are three recognized responsible genes that have been identified through classical linkage analysis. All three known FHM mutations encode mechanisms that affect ion transporter: the CACNA1A, ATP1A2, and SCN1A genes. Their dysfunction ultimately leads to an increase in neuronal excitability. Pathogenic variants in other genes, such as PRRT2, PNKD, SLC2A1, SLC1A3, SLC4A4, and KCNK18, have also rarely been found in HM. Keywords: migraine, genetic factors, pain, aura
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Genetic factors influencing the characteristic facial features of people with psychical disorders
Frajbišová, Aneta ; Šolc, Roman (advisor) ; Kočandrlová, Karolina (referee)
The facial part of the head of the embryo is formed alongside with the brain from the same precursors. The face is formed from the neural crest cells, which arise from the neuroepithelium. This means that if there is some kind of disruption in the early development of the brain, it will be shown in the face. The neuroepithelium induces the expression of many important genetic factors for the formation of the face. For example PAX3, Dsl-1, HMGN1. However, environmental factors also have an impact on the final look of the face. The environmental factors are for example diet or the way of breathing. Persons with the syndromatic psychic disorders have well known and researched facial morphology compared to persons with asyndromatic psychic disorders such as schizophrenia, ASD, OCD and bipolar disorder, which are still the object of many studies. Genetic factors that have an impact on facial dysmorphology, are usually genes that have their main role in the central nervous system or they indirectly impact through signalling pathways on other genes, which are known to have an impact on the face such as Fgf genes. The goal of this thesis is to determine these genetic factors.
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The Path to Drugs Addiction and Back
Kotorová, Adéla ; Čedík, Miloslav (advisor) ; Žáčková, Hana (referee)
The bachelor thesis deals with the problem of drug addiction. In more detail, it focuses on the imaginary journey to drugs and also on the possibilities of changing the chosen inappropriate trajectory of life and going on a new, drug-free path. Dependent behavior is seen not only as a disorder, but also as a path to personality integration and maturation. The thesis is conceived as theoretical and aims to highlight the factors involved in the development of addictive behavior. The process of development of drug addiction, with a distinction of its development in some of the most frequently used drugs, is described in more detail. Attention is paid to the personality of the addicted and external influences that contribute to drug addiction. Mentioned are the most effective preventive programs, treatment options, and reasons, why the individual most often fails on the way to recovery.
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Gemellologic methods (twins studies) in studying genetic factors of diseases
Mizerová, Veronika ; Kovařík, Miroslav (advisor) ; Fikrová, Petra (referee)
Veronika Mizerová Gemellologic methods (twins studies) in studying genetic factors of diseases Bachelor thesis Charles University in Prague, Faculty of Pharmacy in Hradec Králové Medical laboratory technicien Abstract: This work in its first part generally sums up the genetics of monozygotic and dizygotic twins, describes the differences and similarities during the transfer of the genetic information. In further parts it deals with the methods of geminology and their application to the genetic factors of diseases. In the last part it concerns with the heredity of complex characteristics and epigenetics in twins. Keywords: twin studies, monozygotic twins, dizygotic twins, genetic factors
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The role of genetics in the pathogenesis of \kur{diabetes mellitus}
BRÁZDOVÁ, Sára
Diabetes mellitus is a chronic metabolic disease, which is caused by enrivonmental and genetic factors. This disease is characterised by elevated glucose levels in the blood. Diabetes is divided into two main types. Diabetes type I. is the autoimmune reaction of the organism. It's genetic predisposition is mainly based on the HLA complex II. class. Diabetes type II. is represented by impaired insulin secretion or action. Genetic predisposition of this type is very various.
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Alcohol as a common phenomenon now
HANZALOVÁ, Zuzana
There are many reasons why people tend to consume alcohol. One of them is the influence of society. People practically get acquainted with alcohol in early childhood during different family celebrations where drinking alcohol is very tolerated. Certain amount can be accepted. Another reason, why people tend to drink alcohol, could be very individual. People are not able to deal with their problems and stresses, which are brought with their workload and this rushed age. But in both cases it could lead to the situation where the first shots do not work any more. Their amount must be increased ? but that also means higher load for body. Higher consumation of alcohol also brings the risk of exceeding of certain border. Person starts to drink excessively, no regard to his (her) health, age or suitable timing. The theoretical part of my thesis is aimed to the reasons of alcoholism formation and single stages of addiction. It also describes secondary illnesses to alcoholism, prevention and treatment of that. It deals with the groups of people which are the most endangered by addiction. The work contains the comparation of domestic and world statistics. The basis of the practical part is the research of different age groups of inhabitants which is aimed to alcohol attitude, degree of tolerance, finding of drinking frequency and amount of drink alcohol, differences between men and women. In cooperation with mental institution in Jihlava I have watched and treated the life destinies of concrete persons. There are also statistics of mental institution and statistics of accidents caused by driving under alcohol influence processed.
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