National Repository of Grey Literature 26 records found  1 - 10nextend  jump to record: Search took 0.00 seconds. 
The role of the pediatric nurse in providing laboratory newborn screening
STEINBAUEROVÁ, Julie
This bachelor thesis focuses on the role of the pediatric nurse in newborn laboratory screening. The pediatric nurse has an indispensable role in the entire process, educating parents prior to collection, obtaining informed consent from parents prior to testing, preparing supplies, performing the actual collection, checking and preparing the collected specimens for shipment to the screening laboratory. Although the thesis is primarily focused on maternal education prior to collection and possible errors during collection that may negatively affect the results of the examination, the theoretical and practical part of the thesis also covers other topics related to newborn laboratory screening, not least the description of the methodology of the correct collection procedure and subsequent verification of knowledge of its principles in a research investigation with nurses. The first objective was to describe the process of maternal education by the pediatric nurse prior to collection. The second objective was to determine the knowledge of pediatric nurses about the negative impact of substandard blood collection on screening outcome. The research part of the study was based on qualitative research, using the interview method. Data collection was carried out using the technique of in-depth semi-structured interviews with nurses from neonatology departments of selected Prague hospitals. Data analysis was done by pencil paper method, then the results were divided into three categories and described in diagrams. The survey found that nurses perceive the language barrier as the biggest difficulty in educating mothers before delivery, but they have resources available to help them overcome this barrier in practice. It was also found that nurses are well informed and have sufficient knowledge about the principles of dry drop blood collection. The most common errors in collection were described by nurses as insufficient or incorrectly filled in targets on the filter paper and illegible data on the screening card. This work can be used to educate pediatric nurses, and recommendations for practice include focusing on non-pharmacological methods of procedural pain relief for newborns during collection and checking specimens before sending them to screening laboratories to avoid unnecessary repeat collections.
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.
Utilization of LC-MS/MS in diagnosis of congenital adrenal hyperplasia
Grúlová, Kristýna ; Kozlík, Petr (advisor) ; Jelínek, Ivan (referee)
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that causes a disorder of steroidogenesis in the adrenal cortex. This disease is a part of a panel of diseases searched in preclinical nationwide neonatal screening. The methodology is based on measuring the concentration of 17-hydroxyprogesterone (17-OHP) in a dried blood spot using fluorescence immunoassay (FIA). However, this determination is not entirely specific and generates a high rate of false positive results (up to 4.3 %). In this diploma thesis the LC-MS / MS method was developed. This method measures selected steroid hormones involved in cortisol metabolism with respect to the diagnosis of CAH disease. The method was validated and applied to clinical samples, it identified CAH patients from negative controls and significantly reduced the false positivity of neonatal screening results. Compared to the FIA results, the LC-MS / MS method reduced false positivity up to 50 % by evaluating the concentration of 17-OHP. Moreover, by extending the diagnostic algorithm with other measured markers, the reduction was enhanced up to 98%. The developed method is also applicable for the measurement of serum and plasma samples, respectively, and has become a part of the confirmation tests for suspected CAH screening findings. Key...
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.
Health care about patients with hip dysplasia in childhood.
MAREŠOVÁ, Aneta
Developmental dysplasia of the hip is a congenital condition of the musculoskeletar system which occurs during childhood. Incidents of congenital hip dysplasia are diagnosed in approximately 3 % of newborns. This defect is 5 times more prevalent in girls than in boys. The theoretical part of this thesis deals with the congenital defect itself, the use of orthopedic aids and the education of parents, as well as children's tolerance towards orthopedic appliances. Two goals were set for this thesis: to determine mothers' awareness of congenital hip dysplasia and to map the importance of educating medical staff in this field of care. The empirical part of this thesis was devised through quantitative research carried out using semi-closed questionnaire techniques. The research sample was mothers of children diagnosed with hip dysplasia. The results showed that during their first pregnancies, in most cases, women are not aware of hip dysplasia; more awareness was reported in mothers who underwent orthopedic examinations with their first children. The highest awareness was shown in mothers who were diagnosed with hip dysplasia themselves. The results further indicate that education in the field of the care and handling of children with hip dysplasia is vital. It is necessary for general or pediatric nurses to educate parents, mainly concerning proper hygiene of their children. The results of this thesis can be used by medical staff to broaden their general knowledge of treating hip dysplasia, and for general or pediatric nurses who deal with affected children. The theoretical background and research results may also be helpful for parents of children who have been diagnosed with hip dysplasia. For parents of these patients, this diagnosis causes stressful situations for them to deal with. This thesis will explain how this condition arises, explain treatment options, and provide education on caring for children with hip dysplasia.
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.
Retrospective view on a newborn screaning.
ŠTEFLOVÁ, Karolína
This submitted master's thesis is called "A retrospective view on the neonatal screening". The main aim of this thesis is to map a retrospective view on the neonatal screening in the basis of teoretical fundaments. Thesis deals with theoretical level of problematic. Thesis summarizes the historical development of clinical and laboratory neonatal screening. Next to that there are mentioned procedures executed by a nurse in relation with neonatal screening. Thesis also includes a characteristics of specific illnesses witch can be discovered and then correctly treated. Purpose of this thesis is to broaden a necessary knowledge not only among students and medical staff, but mainly among child nurses witch are performing a blood collections for the neonatal screening and they are in most cases the very first persons to be asked by parents for more informations. Great knowledge of the neonathal screening is elementar for every child nurse. Thesis can also be used as a certain guide for parents which will gain more informations about neonatal screening performed (with parents approval) on their newborn child. This master's thesis have been written after a proper study of available materials and have been summarized to complex text. Scientific analysis, synthesis and explantation were used during work on this thesis. We have used many external sources to create this thesis. Most valuable informations and publications have been found in the internet database PubMed, mostly in english. Very important was research and full text articles provided by the National medical library in Prague. Last but not least were used printed publications in czech and english.
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.
Psychical problems of people suffering from phenylketonuria
NENADÁLOVÁ, Lucie
The bachelor thesis called "The psychical problems of people suffering from phenylketonuria" attempts to introduce the life of the people who were born with phenylketonuria diagnosis. The theoretical part of this thesis implies the explanation of the term phenylketonuria, diagnostics of this disease including treatment options. Furthermore, the theoretical part deals with psychical problems associated with phenylketonuria and its impact on education and family field. In the practical part there are examined the case studies of people who suffers from this metabolic defect. The thesis observes the quality of their lives, mentions eventual mental problems they have to cope with and describes their strategies of dealing with phenylketonuria. The aim of this thesis is to examine the impact of phenylketonuria on the psyche of the individuals and the strategies of coping with this metabolic defect.
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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