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The introduction of diagnosis of new bacterial pathogens Ralstonia a Achromobacter isolated from patients with cystic fibrosis and determining their sensitivity to antibiotics
Michálková, Alice ; Melter, Oto (advisor) ; Bébrová, Eliška (referee)
Cystic fibrosis (mucoviscidosis) is an incurable genetic disease caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator Gene). The most common causes of increased mortality and morbidity of patients include bacterial respiratory infections which may occur even due to less frequent pathogens. Bacterial species of the Ralstonia and Achromobacter genera are not considered pathogenic for healthy people, but they have been established as pathogens in the sputum of patients with CF. However, due to their phenotypic similarity to other bacterial pathogens encountered in patients with CF, microbiologists often do not pay attention to them. The aim of this thesis was to propose some methods of identification of the genus Ralstonia, to determine both quantitative and qualitative susceptibility towards antibiotics, and to make a bibliographical search focused on the issue of the Achromobacter genus. Strains of Ralstonia spp. were identified using phenotypic and genotypic methods and were tested for the susceptibility towards antibiotics. The thesis also proposes a new method of genotypic indentification of R. respiraculi.
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Clinical variability of rare dementias: manifestations and possible reasons
Tesař, Adam ; Rusina, Robert (advisor) ; Baláž, Marek (referee) ; Hort, Jakub (referee)
Clinical variants of dementia are limiting their diagnosis and can leads to underdiagnosing or substitution of two different diseases with the same symptomatology. The aim of this study is a better understanding of a factors involved in the clinical variability of rare dementias. Progressive supranuclear palsy and Gerstmann-Sträussler-Scheinker syndrome caused by mismatch mutation P102L in Prion protein are used as model diseases. In this thesis, we firstly demonstrate the influence of the distribution of neuropathology and its spread on the clinical phenotype of the disease. Although a single neurodegenerative disease increases the risk of neurodegenerative comorbidity, this other neuropathology does not affect the phenotypic presentation of the primary disease. Monogenetically inherited proteinopathies can have a different clinical subtype, which is not only conditioned by causal protein polymorphisms, but can be influenced by the wild type allele of causal protein. A more accurate understanding of the symptomatic variability in dementias will allow a better focus of a drug studies and, in the future a treatment, but it will also lead to a better understanding of the pathogenesis of neurodegenerative diseases. Keywords: dementia, Progressive supranuclear palsy, Gerstmann-Sträussler-Scheinker...
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Genetics and phenotypic characteristics of early-onset Parkinson's disease
Fiala, Ondřej ; Růžička, Evžen (advisor) ; Seeman, Pavel (referee) ; Bojar, Martin (referee)
Objective: Mutations in the parkin (PARK2) gene have been associated with autosomal recessive early-onset Parkinson's disease (EOPD) with various frequencies in different populations. The aim of the study is to describe phenotypic characteristics of Czech EOPD patients, to evaluate the influence of environmental risk factors, and to determine the frequency of parkin allelic variants in patients and healthy controls. Methods: A total of 70 EOPD patients (age at onset ≤ 40 years) and 75 controls were phenotyped and screened for the sequence variants and exon rearrangements in the parkin gene. Results: The main features in the phenotype of the patients' sample were: the absence of cognitive deficit, high occurrence of dystonia, depression, hyperhidrosis, an excellent response to dopaminergic therapy, early onset of dyskinesia and motor fluctuation. Patients with mutations in the parkin gene had significantly lower age at onset. The agricultural occupation and work with chemicals increased the risk of EOPD, however the coffee drinking appeared to be a protective factor. Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous...
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Associations between red colour of hair and other morphological, physiological, and behavioral traits
Musil, Martin ; Flegr, Jaroslav (advisor) ; Fiala, Vojtěch (referee)
Hair and skin colour are one of the most visible external features that can be encountered in humans. Red hair colour is the least common colour. It is associated with fair skin, which is prone to ultraviolet radiation. This is captured by eumelanin, which is less common in redheads because they have more pheomelanin pigment. Because of this, red-haired people are in a higher risk of developing malignant melanoma. This risk is further increased by more freckles and nevi on the skin. The major gene behind red hair is MC1R. This gene forms a receptor that binds hormones that regulate pigment production. Red-haired people have a gene allele that is demonstrated by partial or complete loss of MC1R receptor function. According to some studies, red hair also affects how red-haired people feel pain and whether they need more anaesthetics to induce general anaesthesia. The practical part of this work consists of a survey which topics are covered in published studies that mention red hairs in their title or abstract. The survey was conducted on three search engine Web of science, Google scholar and PubMed. All databases contained the most articles that linked red hairs as a risk for malignant melanoma. Key words: redhair, phenotype, human, eumelanin, pheomelanin, pigmentation, melanoma
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Developmental plasticity in reptiles
Peš, Tomáš ; Kratochvíl, Lukáš (advisor) ; Frýdlová, Petra (referee)
The environment during incubation can have significant influence upon phenotype of reptile hatchlings. Temperature is one of the main environmental factors affecting developing embryos. The response to variability in the environment can be diverse: short, long-lasting and potentially also sex-specific. A large number of studies focused on this phenomenon but only a small portion of them studied the persistence of the phenotypic effects. I summarized studies on the influence of environmental factors on the phenotype of reptiles in species with both temperature or genotypic sex determination. These studies were evaluated in terms of duration of these effects and if these are sex specific. I also assessed how much they correspond with the predictions of the adaptive model suggested by Charnov & Bull which explains the origin and maintenance of temperature sex determination. Key words: phenotypic plasticity, environment, development, behaviour, morphology, sex determination, phenotype
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The impact of obesity on the immune system with a focus on NK cells
Císařová, Radka ; Krulová, Magdaléna (advisor) ; Černý, Jan (referee)
Obesity is expanding rapidly even in developing countries and has negative effect on human health. The emerging low-grade chronic inflammation of visceral adipose tissue is generally accepted as the cause of this negative effect. The most important factor in the inflammation development is the induction of inflammatory phenotype of macrophages and their subsequent accumulation in visceral adipose tissue. The first impulse for these changes is ambiguous but can be associated with changes in phenotype and activation status of NK cells. NK cell mediated cytotoxicity against viral infected or cancer cells is impaired by obesity. Leptin level is chronically elevated in obesity and has the counter effects on NK cells. Short-term leptin exposure causes lower cytotoxicity of NK cells but long-term leptin exposure has opposite effect. The few studies about phenotype of NK cells in visceral adipose tissue during obesity point on higher production of INF- and expression of NKG2D by NK cells. Further studies of NK cell phenotype in the context of obesity and in particularly in the context of visceral adipose tissue of obese subjects are important for understanding the negative effect of obesity.
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Mutations in brassinosteroid biosynthetic genes and their effects on plant phenotype
Frimlová, Klára ; Rothová, Olga (advisor) ; Mašková, Petra (referee)
Brassinosteroids are important group of phytohormones, whose presence affects anatomy, morphology and development of plants. They occur in all vegetative and mainly generative organs. Brassinosteroids are biosynthesized via two main paths named early C-6 oxidation pathway and late C- 6 oxidation pathway. Brassinosteroid biosynthesis is catalyzed by enzymes from the group of cytochrome P450. Gene mutations - which affect brassinosteroid biosynthesis - have been studied especially in Arabidopsis thaliana L., Pisum sativum L., Solanum lycopersicum L. and Oryza sativa L. Mutations lead to changes in the composition and amount of brassinosteroids in plants. The reduced content of brassinosteroids is manifested by typical phenotype that includes reduced growth, reduced size of plant organs, and dark green leaves in mutant plants. The mutant phenotype can be reversed by exogenous application of brassinosteroids, which is nevertheless dependent on the concentration of the brassinosteroids used. Higher concentrations of brassinosteroids cause mostly inhibition of root elongation. Keywords: brassinosteroids, biosynthesis, mutant, phenotype
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Imprinting-like effects and homogamy as factor affecting the evolution of eye and hair colour
Joudal, Lukáš ; Kleisner, Karel (advisor) ; Bártová, Klára (referee)
Existing studies have demonstrated that choosing a partner is strongly determined by physical and personal characteristics of a parent of the opposite sex. This influence is affected by the quality of the relationship with the parent during one's childhood. There are many studies focused on choosing a partner in relation to self-similarity. They show that many characteristics are shared between partners. The partner self-similarity has a positive impact on one's satisfaction in and stability of a relationship. Previous research also shows consistency in choosing a partner, meaning there exists a resemblance among ex-partners. The main objective of this thesis is to make a contribution to understanding the mechanisms of choosing a partner based on similarity (colour of eyes and hair) with the parent of the opposite sex and/or based on self-similarity. Next aim is to explore consistency in choosing a partner according to phenotype characteristics (eye and hair colour). The online survey involved overall 1 266 participants, 942 women and 324 men. The survey provided following results. Women choose self-similar partners in terms of eye colour; they also choose their partners depending on the eye colour of their father. Those women with hair colour similar to their partner's show higher relationship...
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Genetics and phenotypic characteristics of early-onset Parkinson's disease
Fiala, Ondřej ; Růžička, Evžen (advisor) ; Seeman, Pavel (referee) ; Bojar, Martin (referee)
Objective: Mutations in the parkin (PARK2) gene have been associated with autosomal recessive early-onset Parkinson's disease (EOPD) with various frequencies in different populations. The aim of the study is to describe phenotypic characteristics of Czech EOPD patients, to evaluate the influence of environmental risk factors, and to determine the frequency of parkin allelic variants in patients and healthy controls. Methods: A total of 70 EOPD patients (age at onset ≤ 40 years) and 75 controls were phenotyped and screened for the sequence variants and exon rearrangements in the parkin gene. Results: The main features in the phenotype of the patients' sample were: the absence of cognitive deficit, high occurrence of dystonia, depression, hyperhidrosis, an excellent response to dopaminergic therapy, early onset of dyskinesia and motor fluctuation. Patients with mutations in the parkin gene had significantly lower age at onset. The agricultural occupation and work with chemicals increased the risk of EOPD, however the coffee drinking appeared to be a protective factor. Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous...
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Subpopulations of human monocytes and macrophages.
Švachová, Veronika ; Stříž, Ilja (advisor) ; Krulová, Magdaléna (referee)
Monocytes and macrophages are important components of the innate immune response. These mononuclear phagocytes form a heterogeneous cell population, of which phenotype and functions can be modified under the influence of different signals coming from the surrounding microenvironment. The aim of this work was to modulate the phenotype of these cells by a variety of stimulants and to compare the changes induced on the model of THP-1 monocytic cell line and on the human peripheral blood monocytes. Surface marker expression was analyzed by flow cytometry. Further on, IL-8 production was evaluated by Luminex assay and the concentration of soluble calprotectin was assessed by ELISA. The most significant changes in surface marker expression were induced by exposure to IFNγ. This cytokine increased the expression of CD54, CD14 and HLA-DR on the surface of THP-1 cell line. Higher concentrations of IFNγ promoted higher apoptotic rate and augmented calprotectin expression and production in THP-1 cell line. On the surface of monocytes, IFNγ stimulation resulted only in the upregulation of CD54 expression. IL-4 increased the expression of CD36 by THP-1 cell line and inhibited the expression of CD163 by human monocytes. LPS stimulation caused the suppression of HLA-DR activation in monocytes and enhanced IL-8...
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