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Diet for Phenylketonuria in Childhood and Its Financial Complexity
KONIAKOVSKÁ, Alena
The thesis deals with the diet of children with phenylketonuria. Phenylketonuria, its diagnostics and incidence are described in the theoretical part, it also further discusses the treatment of the disease, dietary measures as part of low-protein diet and recommended intakes of macronutrients. In last part, it focuses on the support of the individuals with phenylketonuria in the Czech Republic. The objective of the thesis was to map the diet of children with phenylketonuria and compare financial burden of low-protein diet with diet without restrictions. 10 children with phenylketonuria took part in the research. The collection of data was realized by the qualitative method using the semi-structured interview which was then processed into case studies. The meal plans sent by parents were evaluated in the Nutriservis Professional and PKU nutrition table, subsequently evaluated and similar meal plans without restrictions, containing common foods were created. In conclusion, both meal plans were compared. The analysis of the meal plans shows, that almost half of the respondents do not meet their daily energy needs. Carbohydrates are sufficiently present in the diet of children with phenylketonuria, on the contrary half of the respondents had a low fat intake. Proteins are consumed in sufficient amount, in some cases excessively. The meal plan was often monotonous. The reason could be high prices of special foods and rejection of the new ones. Low-protein products make up almost 60 % of all expenses for this diet. In summary, the diet for children with phenylketonuria is about 80 % more expensive than ordinary diet without restrictions. For half of the respondents, the health insurance contribution and the allowance for caregivers will cover all costs. For the second half, the expenses are covered only partially this way. The thesis can help increase public knowledge and awareness about the disease and its economic burden.
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School achievement in pupils with phenylketonuria
NENADÁLOVÁ, Lucie
The diploma thesis called "School Achievement in Pupils with Phenylketonuria" tries to outline the lives of people who have to face up to a hereditary metabolic disorder - phenylketonuria, subjective and objective level of school success of these individuals. The theoretical part of this thesis offers the explanation of this term, introduces its diagnostics in general, the way of treatment, the specific diet and the impact of phenylketonuria on the development of individuals. Furthermore, the theoretical part describes the school achievement in pupils with phenylketonuria, the self-view of individuals with phenylketonuria and the quality of life of these people supported by the already conducted researches. The practical part of the thesis is devoted to the case studies of individuals suffering from phenylketonuria and emphasizes their school achievement, cognitive difficulties at higher levels of phenylalanine. More generally, it follows the level of acceptance of these people to the wider environment and tries to explain how the phenylketonuria has influenced their life. The aim of this work is to map the impact of phenylketonuria on the school achievement of respondents, their inclusion in the school team and the degree of influence on their life with phenylketonuria.
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Molecular dynamics study of admixture influence on structural properties and stability of fatty acid Langmuir monolayers
Kubániová, Denisa ; Roeselová, Martina (advisor) ; Barvík, Ivan (referee)
Using the classical molecular dynamics simulations, the interfacial partitioning of selected aromatic species, namely benzoic acid and neutral and zwitterionic form of L-phenylalanine, was studied in the three slab systems: a) aqueous organics solution, b) palmitic acid monolayer in tilted condensed phase at aqueous organics solution and c) palmitic acid monolayer in tilted condensed - 2D gas phase coexistence at aqueous organics solution. The surface activity and the tendency to aggregate in particular at the air- aqueous and palmitic acid-aqueous interface was confirmed for all of the investigated aromatic species. The results of the simulation performed for the system of palmitic acid monolayer at benzoic acid solution were compared with the literature results of a similar simulation that employed a different parametrization. The comparison showed that the behaviour of the aromatic species at the fatty acid monolayer-aqueous interface strongly depends on the force field. The structural properties of the palmitic acid Langmuir monolayers were evaluated by means of the chain tilt angle and the headgroup region dihedral angle distributions analysis depending on the surface film density and the adsorbed aromatic species. The simulations mimicking the isothermal compression of the mixed monolayer in the...
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Molecular dynamics study of admixture influence on structural properties and stability of fatty acid Langmuir monolayers
Kubániová, Denisa ; Roeselová, Martina (advisor)
Using the classical molecular dynamics simulations, the interfacial partitioning of selected aromatic species, namely benzoic acid and neutral and zwitterionic form of L-phenylalanine, was studied in the three slab systems: a) aqueous organics solution, b) palmitic acid monolayer in tilted condensed phase at aqueous organics solution and c) palmitic acid monolayer in tilted condensed - 2D gas phase coexistence at aqueous organics solution. The surface activity and the tendency to aggregate in particular at the air- aqueous and palmitic acid-aqueous interface was confirmed for all of the investigated aromatic species. The results of the simulation performed for the system of palmitic acid monolayer at benzoic acid solution were compared with the literature results of a similar simulation that employed a different parametrization. The comparison showed that the behaviour of the aromatic species at the fatty acid monolayer-aqueous interface strongly depends on the force field. The structural properties of the palmitic acid Langmuir monolayers were evaluated by means of the chain tilt angle and the headgroup region dihedral angle distributions analysis depending on the surface film density and the adsorbed aromatic species. The simulations mimicking the isothermal compression of the mixed monolayer in the...
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The diet for phenylketonuria
CHYŠKOVÁ, Michaela
There is currently no known method to cure PKU completely. With a disorder and a special type of metabolism that accompanies this disease, the individual will meet his / her whole life. This is a specific genetic notation that makes a given diagnosis in humans. For PKU is an incurable metabolic disorder, it is necessary to follow a lifelong diet that will allow normal physical, intellectual and neurological development. It has been known for more than fifty years that diet must contain a low amount of phenylalanine, thereby significantly reduces the risk of brain damage in childhood when it develops vigorously. The diet is indicated by the attending physician in cooperation with the nutritional therapist according to the tolerance values of phenylalanine in the blood. Specific blood values are determined at regular intervals, and according to phenylalanine values, the dietary plan of the individual is subsequently adjusted to suit his / her requirements and does not pose any risk to his / her health. The aim of my bachelor thesis is to map the common diet of children's patients with phenylketonuria, where each child has a different tolerance value of phenylalanine. As a result, the diet must be individually adapted and assembled. At the same time, I will be interested in possible problems and limitations that the patient may encounter and in the impacts not only on the individual, but also on the family and surroundings in which the child lives and grows up. To elaborate the practical part of my bachelor thesis I have chosen a qualitative research method in which I focused on 3 respondents. Specifically, 3 children with phenylketonuria, in the presence and cooperation of their legal representatives. I conducted an unstructured interview with them in which I was looking for detailed information about the health of the children and their eating habits. Then, I evaluated the information obtained and described it. The bachelor thesis could serve as an information material for medical staff or patients who face this disease. I found out from the interviews that no mother was prepared to have a phenylketonuria offspring. For everybody it was a shock and a new life situation, and both the whole family and the children themselves had to and still have to somehow cope with it. There is a new life stage in life, where the proper nutrition of the child is being solved for the proper development. There is a very important dietary treatment and cooperation with doctors and nutritional therapists. Diet is more expensive because special phenylketonuric products are more expensive than commonly available foods, but must be followed systematically and best with lifelong delivery of medications. If the child eats as recommended by the doctor, the development is in order and the risks of health complications are minimized.
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Molecular dynamics study of admixture influence on structural properties and stability of fatty acid Langmuir monolayers
Kubániová, Denisa ; Roeselová, Martina (advisor)
Using the classical molecular dynamics simulations, the interfacial partitioning of selected aromatic species, namely benzoic acid and neutral and zwitterionic form of L-phenylalanine, was studied in the three slab systems: a) aqueous organics solution, b) palmitic acid monolayer in tilted condensed phase at aqueous organics solution and c) palmitic acid monolayer in tilted condensed - 2D gas phase coexistence at aqueous organics solution. The surface activity and the tendency to aggregate in particular at the air- aqueous and palmitic acid-aqueous interface was confirmed for all of the investigated aromatic species. The results of the simulation performed for the system of palmitic acid monolayer at benzoic acid solution were compared with the literature results of a similar simulation that employed a different parametrization. The comparison showed that the behaviour of the aromatic species at the fatty acid monolayer-aqueous interface strongly depends on the force field. The structural properties of the palmitic acid Langmuir monolayers were evaluated by means of the chain tilt angle and the headgroup region dihedral angle distributions analysis depending on the surface film density and the adsorbed aromatic species. The simulations mimicking the isothermal compression of the mixed monolayer in the...
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Modification of carbon felt detector with copper microparticles
Baroch, Martin ; Dejmková, Hana (advisor) ; Schwarzová, Karolina (referee)
The first aim of this work was to develop copper modified carbon felt electrode for detection of amino acids, which are not electrochemically active on ordinary carbon electrodes. Phenylalanine solution at a concentration 1.0 mmol dm-3 was chosen as the testing solution. Electrode modified with electrochemical deposition of copper from mixture of copper(II) sulphate and sodium sulphate provided very low responses which were decreasing during first measurements, apparently because of insufficient amount of copper. Therefore, further experiments were performed using copper microparticles as a modifier. Copper microparticles activated in nitric acid at a concentration 80 mmol dm-3 were applied at carbon felt by several techniques and in different parts of the felt, i.e. by stirring the felt in microparticles suspension, by dripping of the suspension to the part of the felt in contact with capillary (proximal), between two parts of the carbon felt (sandwich) and at a part of the carbon felt in contact with electrolyte in a measuring cell (distal). Electrodes modified in the distal and in the sandwich arrangement were chosen as the best ones. In the last part, calibration dependences for phenylalanine in concentration range from 0.025 mmol dm-3 to 1.0 mmol dm-3 were measured on the last two electrodes....
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The diet for phenylketonuria
CHYŠKOVÁ, Michaela
There is currently no known method to cure PKU completely. With a disorder and a special type of metabolism that accompanies this disease, the individual will meet his / her whole life. This is a specific genetic notation that makes a given diagnosis in humans. For PKU is an incurable metabolic disorder, it is necessary to follow a lifelong diet that will allow normal physical, intellectual and neurological development. It has been known for more than fifty years that diet must contain a low amount of phenylalanine, thereby significantly reduces the risk of brain damage in childhood when it develops vigorously. The diet is indicated by the attending physician in cooperation with the nutritional therapist according to the tolerance values of phenylalanine in the blood. Specific blood values are determined at regular intervals, and according to phenylalanine values, the dietary plan of the individual is subsequently adjusted to suit his / her requirements and does not pose any risk to his / her health. The aim of my bachelor thesis is to map the common diet of children's patients with phenylketonuria, where each child has a different tolerance value of phenylalanine. As a result, the diet must be individually adapted and assembled. At the same time, I will be interested in possible problems and limitations that the patient may encounter and in the impacts not only on the individual, but also on the family and surroundings in which the child lives and grows up. To elaborate the practical part of my bachelor thesis I have chosen a qualitative research method in which I focused on 3 respondents. Specifically, 3 children with phenylketonuria, in the presence and cooperation of their legal representatives. I conducted an unstructured interview with them in which I was looking for detailed information about the health of the children and their eating habits. Then, I evaluated the information obtained and described it. The bachelor thesis could serve as an information material for medical staff or patients who face this disease. I found out from the interviews that no mother was prepared to have a phenylketonuria offspring. For everybody it was a shock and a new life situation, and both the whole family and the children themselves had to and still have to somehow cope with it. There is a new life stage in life, where the proper nutrition of the child is being solved for the proper development. There is a very important dietary treatment and cooperation with doctors and nutritional therapists. Diet is more expensive because special phenylketonuric products are more expensive than commonly available foods, but must be followed systematically and best with lifelong delivery of medications. If the child eats as recommended by the doctor, the development is in order and the risks of health complications are minimized.
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Specifics of nursing care for a child with phenylketonuria
DVOŘÁKOVÁ, Monika
Current situation: Research in this work, in addition to the issue of the specifics of nursing care of children with phenylketonuria, also deals with the very important area of diagnostics, dietary measure and treatment of disease. Phenylketonuria is an inherited metabolit disease which is diagnosed in the early hours of the newborn's life. Early diagnosis is very important to prevent irreversible ganges in the newborns' health. The aim of the work to assess the knowledge of nurses in nursing care of children with phenylketonuria. There was also evaluated the knowledge of parents who have children with phenylketonuria. Methodology used: A qualitative research method was used for the processing of the research. Standardized depth interview with nurses and parents of sick children with phenylketonuria were used to collect relevant data in the thesis. Interviews were recorded, transcribed, coled by the ,,pencil and paper method and then categorized. The research sample consisted nurses and parents of children with phenylketonuria. The first research sample consisted of five nurses from the Children's Department. The second reserch sample represented five parents of children diagnosed with such a disease. The research samples were selected intentionally and thein size was determined by theoretical saturation of data. Results of the research showed that nurses have a satisfactory understanding of the problems of phenylketonuria nursing care as well as they understand a dietary measure and administration of amoni acid products for children with the disease. Nurses also have satisfactory knowledge about implementation of screening tests in newborns and about the disease itself. The second surfy showed that parents who have children diagnosed with phenylketonuria have very sufficient information about the disease. Also thein awareness about diagnosing the disease is satisfactory. In general, the parents know most information about dietary measures and the amino acid supplements. Conclusions and recommendations for practice: Although phenylketonuria inchildren is not among the frequently occurring diseases, nurses have relevant knowledge on this isme and they well in practice. Relevant knowledge among parents who have children with phenylketonuria play salso a key role. The outcome of the thesis was also to create an information brochure especially designed for parents of children who have been diangnosed with phenylketonuria and for the general public. The information brochure includes a brief summary about the disease, dietary restrictions including appropriate and inappropriate food and information about treatment of the disease.
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