Journal of Nursing Theory and Practice

[Healthcare and social aspects of nursing in relation to the rare Pompe disease]

TÓTH Mónika1, VÁRDI Katalin Borbála1

AUGUST 28, 2014

Journal of Nursing Theory and Practice - 2014;27(04)

[Aim of the study: Pompe disease is a rare mitochondrial disease, which is treated with enzyme replacement therapy. The authors examined the lifestyles of patients diagnosed with Pompe disease, and their knowledge regarding the illness. They compared this with the results of the regular checkups performed during the care process, in order to assess the patients’ compliance. Sample and methods: The research was conducted among patients suffering from Pompe disease, treated at the Rehabilitation Department of the Törökbálint Institute of Pulmonary Medicine (N=14). The survey of the patients’ knowledge took place in the form of personal interviews. The findings related to the regular enzyme replacement therapy were recorded and collated in the course of interviews conducted by telephone with the nurses of the centres administering the treatment. The data was processed using Microsoft Excel software. Results: In 2012 in Hungary the number of patients diagnosed with Pompe disease was 14 (12 adults, 2 children). The time elapsed from emergence of the first symptoms to the precise diagnosis in the case of all known patients (except in the case of one screened child) was an average of 13.4 years. Ten of the patients were receiving enzyme replacement therapy. The survey revealed that the conditions of the patients receiving the enzyme replacement therapy did not deteriorate. In the case of the female child, the decrease in CK levels was accompanied by growth and movement consistent with her age, and an improvement in vocalisation. Conclusions: For patients diagnosed with the once fatal Pompe disease, enzyme replacement therapy now offers the opportunity of a full life; and complementary treatments not only boost the effectiveness of the enzyme replacement, but also improve the patients’ subjective quality of life.]


  1. Törökbálinti Tüdőgyógyintézet Rehabilitációs Osztály



Further articles in this publication

Journal of Nursing Theory and Practice

[Examination of effects of the nurses shiftworks with application of Standard Shiftwork Index - pilot study]

FUSZ Katalin, KOVÁCS KALIC Károly, KÍVÉS Zsuzsanna, MÜLLER Ágnes, OLÁH András

[Aim of the study: Several physiological processes are disturbed in shift workers. The authors’s aim was to complete a pilot study as part of the validation process of Standard Shiftwork Index (SSI) and to examine the effects of shiftwork on the quality of sleeping and on psychical and somatic status. Sample and methods: The survey was implemented at the hospitals of the University of Szeged in 2011, with the participation of not randomly selected nurses working in shiftwork, night- or dayshifts (N=211). SSI was complemented with further respective questions. Results: Those working in dayshift suffer less from sleep disorders than nurses working in nightshift or shiftwork (p=0,002, p=0,005), and have better health status (p=0,001, p=0,003), furthermore feel themselves less tired (p=0,011, p=0,039). The nightshift workers had gastrointestinal complaints more frequently (p=0,044, p=0,006), as well as nurses working in nightshift suffer from more chronic diseases than dayshift workers (p=0,004) and shift workers (p=0,003). In case of shift workers the weekly amount of cigarettes having smoked (p=0,008) and the consumption of caffeinated refresher beverages (p<0,001) were significantly increased since the beginning of their shiftwork. Conclusion: Health status of nurses working in nightshifts and shiftwork are more relapsed, their health attitude is worse than in case of dayshift workers. As the continuation of this examination the authors try to find out which variations of shiftwork can be considered less exhausting.]

Journal of Nursing Theory and Practice

[Aggression management programme for healthcare workers]


[Aim of the study: Introducing a programme for aggression prevention and assessing the experiences of its first session in Budapest. Sample and methods: The study was conducted with the involvement of 30 healthcare workers, using a self-administrative questionnaire and a focus group session. The self-administrative questionnaires were used to evaluate the quality of the programme, while the aim of the focus group was to reveal its further details. Results: The training was met by positive responses both in connection with the material and the preparedness of the instructors. During the focus group, numerous sensitive points came to light about the programme, and further suggestions were given this way helping the improvement. Conclusions: The objective and subjective results of the study both support the need for a training that helps prevent aggression. However, further changes are needed in order to increase its effectiveness. ]

Journal of Nursing Theory and Practice

[Investigation of graduate students’ health behavior in high school of the small town]


[Aim of the study: To investigate graduate students’ addictions, their attitude towards healthy living and to find connection between the above and their parents’ and teachers’ lifestyle. Sample and methods: Investigating graduate students’ (n=100) and their teachers’ (n=29) lifestyles in a high school of a small town in Békés County. The results were analyzed by using SPSS programme (Cross tabulation analysis, Chi-Square Test). Results: While the students’ and their parents’ addictions are worse than the Nation’s average, the teachers’ tends to be better. 79 % of the parents and 54 % of the students does not do any sports on a daily basis. The parents and teachers can’t improve the students’ lifestyle efficiently. Students with good academic grades seem to lead healthier life. 60 % of the students with C, D grades (worse grades) smoke, while it’s 28 % of those with A and B (better grades). Conclusions: For efficient health education we need dedicated professionals who are able to involve parents to reach the best result. It’s a joint task to show the youngsters the way leading to a healthy life, as well as to give them the ability to be responsible in their choices.]

All articles in the issue

Related contents

Clinical Neuroscience

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]

MOLNÁR Mária Judit, BORSOS Beáta, VÁRDI Visy Katalin, GROSZ Zoltán, SEBÕK Ágnes, DÉZSI Lívia, ALMÁSSY Zsuzsanna, KERÉNYI Levente, JOBBÁGY Zita, JÁVOR László, BIDLÓ Judit

[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]

Journal of Nursing Theory and Practice

[Nursing career of the high-school students]


[Aim of the research: The aim of the study is to analyze the trends of student orientation in the age and compulsory education process by age group. In our research, we would like to answer the question of how much „popularity” the health care profession as a professional area among students participating in Hungarian public education. If you feel this area of expertise close to you, what kind of vision you have. Research and sampling methods: A self-constructed questionnaire was administered during 24 Oct 2017 - 13 Jan 2018. In all counties of Hungary, the authors sent it to at least one of the training sites and filled up with me (N=329). These training sites are involved in healthcare training. Data were analysed with SPSS 15.0 for Windows statistical program. Chi square, Mann-Whitney tests were applied (p <0,05). Results: Out of the 159 people (48%), 170 (52%) in the family have healthcare workers. When performing the controls of the distributions, we can conclude that there is no significant difference in the distribution between the two groups, so there is the same number - that is, statistically significant difference - of the proportion of those willing to choose the health care path. In terms of career choice, 276 (86%) of respondents believe it is likely to be oriented towards the health care path, with 46 people (14%) planning their life is in another direction. Seven of its principal did not answer the question. By completing the Mann-Whitney test, we can conclude that there is no significant difference between the two groups in the medians, so there is no difference - that is, statistically significant difference - with respect to career choice as a nursing profession’s esteem. Of the 329 participants, 215 (65%) replied that they would like to work as a nurse, while 114 (35%) responded that they would not choose this job. Conclusion: Don’t influence significantly the career entrant if there is a healthcare worker in the family. Who stand in front of career choice don’t influence significantly the appreciation but is more motivated by sympathy and helplessness toward another person.]

Journal of Nursing Theory and Practice

[Associated factors of independency in older adults with cognitive impairment living in a long term care institute]


[Aim of the research: Functional independence determines the elderly’s health and quality of life. In them cross-sectional study the authors analysed the associations between functional abilities (balance, gait, functional mobility, cognitive abilities), age, BMI and comorbidities and independency in older adults with cognitive impairment. Research and sampling methods: 110 elderly people were measured. Self-sufficiency was measured by the Katz-index, balance, and gait by the Tinetti Test and functional mobility by the Timed Up and Go Test. Correlations between variables were analysed with the Spearman’s rank-order correlation. Results: There was strong association between balance (r=0,557), gait (r=0,515), functional mobility (r=-0,647), and independency. It means the better the balance, gait, and functional mobility is, the higher the independency is. There was weak association between age, BMI, cognitive abilities, comorbidities and independency. Conclusion: Results show that preserving of the functional independence in older adults with cognitive impairment is a multidisciplinary task: physiotherapists and nurses should work together to complete doctors’ curative work of chronic diseases.]

Lege Artis Medicinae


NAGY László

[Controlled clinical studies on statins have produced evidence that the aggressive lowering of LDL-cholesterol (LDL-C) level reduces the mortality rate of ischaemic heart disease. About 40% of treated patients achieve the cholesterol target level. The observance of medication instructions on a daily basis (compliance) and willingness for long-term taking of the drug (persistence) are crucially important to avoid severe complications. In the long term, patients take only about 50% of their medicines according to the instructions. As a result of the generally poor compliance and persistence in taking the medications, the decrease in morbidity and mortality observed in clinical studies do not occur under real-life conditions. Patients with poor compliance (<80%) will experience only a minimal health benefit and the cost-effectiveness of the therapy will markedly decrease. For patients with poor persistence who discontinue their treatment before benefits at the clinical endpoints could manifest, the resources invested into the therapy will be lost. Both compliance and persistence deteriorate as the number of concurrently taken medicines increases. Since less than 50% of the programmes aimed at improving patient co-operation are successful, therapeutic decisions should preferably be made by taking into consideration the expected compliance/persistence already at the time of choosing the medication. By widening the use of fixed-dose combination therapies, the efficiency of treatment can substantially be increased in patients who concurrently take several medicines and require aggressive lowering of blood pressure or LDL-C level.]

Lege Artis Medicinae

[Long-term CPAP compliance among Sleep Apnea Patients at the Sleep Laboratory of the Hungarian Defense Forces Medical Center ]


[Obstructive sleep apnea syndrome (OSAS) is the most common sleep disorder, with a prevalence of 2-4% in the overall popula­tion. It is a risk factor for cardiovascular diseases and its daytime symptoms significantly impair the patients’ quality of life and increase the risk of work and road accidents. Its first-line treatment is the CPAP device (Continuous Positive Airway Pres­sure) the effectiveness of which is significantly determined by the compliance of the patient. Although the issue of compliance in such treatment is a very important factor, long-term studies including a large number of patients have not been published yet, and there are no known data about it in Hungary. OBJECTIVE - Examining the long-term compliance of CPAP among OSAS patients in a sleep laboratory in Hungary. METHOD - 3403 OSAS patients were selected for our study between January 1, 2007, and September 30, 2017. The diagnosis and titration of effective CPAP pressure were determined by polysomnography. Patients were controlled after 2 months of therapy and then every 6 and 12 months. During the care, their compliance value was determined by data downloaded from their device's memory card. RESULTS - The mean age (± SD) of patients was 59.0 (± 10.5) years, most of them were male, 2676 (78.6%), their average body mass index (BMI) was 32.6 (± 5.25) kg/m2, their average Epworth Sleepiness Scale score was 11.4 (± 5.0), their average Apnea-Hypopnoe index was 51.0 (± 19.5) events/hour. The average usage time of the CPAP device was 5.0 (± 1.9) hours. 72.3% of the patients used the device for over 4 hours and 27.7% used it for less than 4 hours. 34.7% of the patients used the device for more than 6 hours. The Epworth Sleepiness Score showed a significant and dose-dependent improvement over CPAP treatment, with a greater improvement among patients who used the machine for longer hours. The highest score improvement was achieved by users who used CPAP between 6-7 hours, averaging 7.3 (± 3.2) points (p <0.001). CONCLUSIONS - Our present study shows that high average compliance can be achie­ved among well-adjusted and well-maintained patients. ]