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.]

AFFILIATIONS

  1. Törökbálinti Tüdőgyógyintézet Rehabilitációs Osztály

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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.]

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