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The role of the pediatric nurse in the realization of newborn screening
KUBÍKOVÁ, Michaela
This bachelor thesis examines the role of a pediatric nurse in providing newborn screening, focusing on the educational process of mothers, their involvement during the screening process, and the challenges they encounter. The aim is to describe the range of nursing activities involved in providing newborn screening. The thesis is divided into theoretical and practical parts. The theoretical part provides detailed descriptions of population-wide screening examinations. Specifically, it covers screening for congenital syphilis from umbilical cord blood, laboratory screening for 20 diseases, screening for cataracts, congenital deafness, and developmental dysplasia of the hips. In subsequent chapters, I focus on the competencies of pediatric nurses and their role in providing newborn screening. The practical part includes methodology, research findings, and discussion. The data collection utilized a semi-structured interview method. The research sample consisted of pediatric nurses working in the physiological newborn unit and intermediate care station at the neonatology department of the Hospital České Budějovice a.s. and at the pediatric department of the Regional Hospital Jihlava. During the interviews, I asked a series of questions to nurses to ascertain their familiarity with newborn screening issues. Based on the establishment of one goal, three research questions were formulated. The first question addresses the extent of parental education currently provided by pediatric nurses. The research indicates that the majority of nurses have a comprehensive understanding in this area and are able to convey the required information to parents. The second question examines nurses' opinions on parental involvement in newborn screening implementation. The research demonstrates that nurses actively encourage parents' presence during procedures. The third question focuses on the challenges that pediatric nurses may most commonly encounter in providing newborn screening. To a small extent, there is a possible underestimation of procedural pain management by parents during procedures. However, the research does not reveal any significant issues in providing newborn screening.
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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.
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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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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...
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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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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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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.
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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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Selected ethical issues in the Perinatology
KUBAŠTOVÁ, Zdeňka
Special literature analysis with special focus on ethical issues in perinatal period. Comparison of acquired information with opinion of postpartum women and Faculty of Health and Social Studies students concerning the surrogate mothers issue. The theoretical part of this thesis covers processing of selected ethical issues related to pregnancy, childbirth and the puerperium in both mother and child. There are many contentious issues concerning this period. The first goal was to find out (by means of a questionnaire) what the current generation of laboring women?s opinion on ethical issues is. The next part of the research analysis was opinion of Faculty of Health of Social Studies students on surrogate motherhood. The third step was to find out more about and suggest possible changes in treatment approaches in the delivery room. To assess the results, descriptive statistics method was applied, which is used in scientific research. A total amount of 92 women hospitalized in Department of Gynecology and Obstetrics in the hospital of České Budějovice in January 2013 answered a set of several closed questions. The question concerning role of surrogate mothers was answered by students of Faculty of Health and Social Studies in an e-learning forum. A total of 47 respondents took part in the discussion. Having compared the data gained with special literature analysis, I have made the following findings. The artificial insemination has become a common routine in the view of the current generation of mothers-to-be. As for the view on surrogate motherhood, there were differences between the opinion of postpartum women (rather negative) and the opinion of Faculty of Health and Social Studies students, who would predominantly endorse this practice, yet mentioned the need of statutory regulation. The dissimilarity of opinion is probably an individual matter. The postpartum women had their own child, whereas the students were not aware of their potential difficulty getting pregnant. The majority of the women interviewed would opt for abortion if recommended by a physician when diagnosed with congenital developmental defect in the fetus. However, I am now aware what level of awareness there is of possible complications associated with this surgery. Should the delivery come to pass, the vast majority of respondents would keep the child, however much handicapped, in the family. Most mothers would prefer to be informed about their child?s disease despite the fact that current medical knowledge would not have a cure for the disease. I positively appraise the women?s views related to preference of natural birth to operative birth and good response to delivery and post-delivery care in the hospital. Most respondents disagreed with the abolition of blanket calmetisation. It remains a question though, if they are fully informed about the secondary complications of this vaccination. Only few women interviewed are informed about undoubtedly interesting work of internationally recognized child psychologist Jiřina Prekopová. Based on the analysis of all information gained I came to the conclusion that even in the future it will not be possible to find unambiguous answers to some questions. It is necessary to carefully consider all decisions, especially in perinatal period, as it is not only the mother?s, but also the child?s life that matters and the effects may jeopardize the relationships in the whole family. This thesis may serve as educational material for Faculty of Health and Social Studies students, but above all it should address medical staff members and make them think about working procedure. It could also inform general public about current ethical problems.
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