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Fenylketonurie - genetický podklad, symptomy, diagnostika a možnosti léčby
HRAŠE, David
Phenylketonuria (PKU) is an inborn error of metabolism of aromatic acids with a complete deficiency of the enzyme phenylalanine hydroxylase (or its cofactor tetrahydrobiopterin) converting the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in body fluids as a result of this deficiency. Hyperphenylalaninemia causes severe physical and psychological damages to the child for several months after birth, so it is necessary to perform the neonatal screening test.
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Využití a význam sladidel v potravinách
Čížková, Veronika
Thesis "Use and importance of sweeteners in food" creates a list of commonly used sweeteners, not only in the food industry, but also use of home. Sweeteners are divided into natural and synthetic. Thesis includes informations on the best known and wide spnead natural sweeteners where high consumption risk of dental caries and obesity. Further described are all synthetic sweeteners used in the Czech Republic and the European Union is divided according to the respective categories, including their use in food. Thesis includes a characteristic of diabetes mellistus and phenylketonuria, that the consumption of synthetic sweeteners related.
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The Communication Strategy Proposal for the National Association of PKU and Other Inherited Disorders
Kusáková, Iva ; Lhotáková, Markéta (advisor) ; Puda, Radek (referee)
The diploma thesis focuses on the National association of PKU and other inherited disorders. Within the theoretical part the non-profit sector is defined, the theoretical basis for marketing communication are determined and successful communication campaigns of non-profit organisations are introduced. The main goal of the diploma thesis is to suggest the communication strategy for the National association of PKU and other inherited disorders. The main goal of the diploma theses is supported by own research in the form of in-depth interviews and survey which were answered by PKU patients. Finally, the communication strategy proposal is created, which target is to raise awareness about PKU among the general public.
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Phenylketonuria and the Life with the Disease.
JÁNSKÁ, Karin
Phenylketonuria is an autosomal hereditary metabolic disorder of amino acids caused by insufficient activity of liver enzyme phenylalanine hydroxylase, which is necessary for metabolism of the essential amino acid phenylalanine to tyrosine. Obligatory newborn screening aimed at detection of the disease before development of clinical symptoms was introduced in Czechoslovakia in 1975. Increased level of phenylalanine in blood leads to an irreversible damage of the nerve system, mental retardation. Phenylketonuria is an incurable, however treatable disease, where diet with low phenylalanine content is still the only treatment. As amino acids are the building units of proteins, patients have to take proteins in the form of amino-acid products without phenylalanine. Although high phenylalanine levels lead to irreversible damages it cannot be completely eliminated from nourishment as it is necessary for the growth and development of a human. Phenylketonuria prevalence is 1:5338 in the Czech Republic as of 2013. Patients with this disease have to be dispensarized for the whole life. Women that want to become pregnant should be much more careful in adherence to the diet as sudden increase of phenylalanine in mother's blood threatens healthy development of the foetus. The thesis named Phenylketonuria and the Life with the Disease is elaborated on theoretical base by scientific methods of explanation, modelling and induction. The aim of elaboration of this topic was to map the problems related to phenylketonuria, including nursing care and the life obstacles to patients with the diagnosis. Medicine journals, e.g. Československá pediatrie, Metabolík, Výživa a potraviny, Medicína a umění, where the latest findings based on recent studies are published, were another important source of information. After studying literature specialized in the topic our task was to provide important information. The present thesis is divided into four chapters. The first chapter provides basic information on phenylketonuria. We learn how the diagnosis is classified, what its nature is, the occurrence of phenylketonuria in individual countries is described here. It outlines the history, diagnostics and developing symptoms of untreated phenylketonuria. Lifelong diet with low phenylalanine content is the basic treatment, other treatment methods are still in the research phase. The second chapter focuses on the nursing care of a patient with phenylketonuria, it outlines the role of a nurse in the care of hospitalized patients. The problems of anaesthesia are also marginally mentioned here. We can find a list of metabolomic workplaces specialized in the care of these patients in the Czech Republic. Deficits linked to adherence to low protein diet are also mentioned. The third chapter deals with diet for patients with phenylketonuria at various life stages. The last chapter describes the economic-ethical problem and current contributions of health insurers to diet products. The assigned bachelor thesis might serve as informational material in practice, as it is suitable for all those interested in the issue. If the assigned bachelor thesis outlined the nature of phenylketonuria and an individual founds answers to his/her questions there, the thesis would meet its purpose. More than eighty years have passed since the explanation of the phenylketonuria nature. Diagnostics methods have developed from the napkin test with ferric chloride to newborn screening where a blood drop is taken from new-born baby's heal on a filter paper and the phenylalanine level is consequently evaluated in a laboratory. The treatment principle however remains the same, namely consistent adherence on low protein diet to reach the optimum phenylalanine concentration in patient's blood.
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Marketing focused on patients with phenylketonuria (PKU)
Lifková, Hana ; Zamazalová, Marcela (advisor) ; Šantavá, Michaela (referee)
The master's thesis deals with inherited metabolic disorder phenylketonuria from a marketing point of view. The theoretical basis of this thesis points out to differences between the marketing mix in the pharmaceutical industry and other industries. Analysis of marketing mix of Nutricia company in relation to patients with phenylketonuria is based on these facts. Secondary and primary data are used in this master's thesis. There were several research methods used to get the information, such comparison and telephone interviews. The work provides insights and recommendations in relation to the potential competitive advantages of the Nutricia company, which can help to maintain its position as market leader in the future. Attention is mostly paid to project such Home Deliveery and on-line communication.
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Children with Phenylketonuria in kindergarten
BLAHOVCOVÁ, Veronika
This bachelor thesis is focussed on the problematic approach towards children with metabolic disorder ? phenylketonuria in a family and an environment of kindergarten. Congenital metabolic disorders lead to lack of certain substances in organism, or, on contrary, accumulation of them. Such disorders have various clinical displays, from harmless ones (often without symptoms) thru severe handicaps of physical and mental development to life-threatening states. The thesis is focussed on approach of parent as well as kindergartener towards child and it adverts to necessary adherence to diet restrictions.
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Psychosocial aspects in the lives of children suffering from errors of metabolism
VÁVRŮ, Jana
The present bachelor´s thesis titled {\clq}qPsychosocial aspects in the lives of children suffering from errors of metabolism`` deals with the issues related to hereditary metabolic derangements. It puts together knowledge and examples from day-to-day lives of people suffering from hereditary metabolic disorders. The main purpose of the treatment and nursing care for patiens diagnose with hereditary metabolit errors is to help these accomplish ideal development in their childhoods and a maximum of independence, social integrity, and self-esteem in adolescence and adulthood. These goals can only be accomplished thanks to a multi-system approach. The theoretical part describes heredity, clinical symptoms, diagnostic methods, and treatment of hereditary metabolic disorders. It deals with phenylketonuria (PKU) in more details, it clarifies the mechanism of PKU origins, screening, symptoms, treatment, forecast, and also maternal phenylketonuria. The following part compiles known facts about the personality of a chronically ill child, its psychic needs, and social relations. It also deals with parents´ educational attitude, their strategies for coping with stressful situations, approach of the closest people and society as such. It gives an outline of psychic and social consequences of being chronically ill. The research part of the thesis includes qualitative survey employing case reports, personal documents analysis, and the method of guided interview. The target survey group comprised of 7 children aged 6 to 16 living in the south of Bohemia who are diagnosed with hereditary metabolic disorder, i.e. phenylketonuria. The target of the thesis was to find out about the way children diagnosed with hereditary metabolic disorder and their parents live, what most affects their lives, whether and how much they are informed about the disorder, and whether then disorder brought only negative things or also some positive ones. The survey questions concern the following: the metabolic disorder influences the life of the child, the disorder influences the whole family, and if the child follows properly given medical instructions, it can have a normal life like its healthy peers. The outcome of the thesis may be used as a basis for further improvements in complex care provided to children with metabolic disorders and their families.
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