Spinálna muskulárna atrofia (SMA) vzniká v dôsledku poruchy motorického neurónu z nedostatku proteínu SMN. Až 95 % prípadov je spôsobených homozygotnou deléciou v SMN1 géne v oblasti 5q13. Charakteristickým znakom ochorenia je prevažne proximálna svalová slabosť pri normálnom intelekte detí. Do roku 2018 bola na Slovensku dostupná len symptomatická liečba. V máji 2017 Európska lieková agentúra schválila pre SMA prvú komerčnú liečbu zo skupiny antisense nukleotidov - nusinersen. Na Slovensku sa začal podávať v auguste 2018 a doteraz je liečených 43 pacientov všetkých SMA typov v centrách v Bratislave, Banskej Bystrici a Košiciach.
Spinal muscular atrophy (SMA) is a motor neuron disorder due to SMN protein deficiency. Up to 95 % of cases are the homozygous deletion in the SMN1 gene located in the 5q13 region. The characteristic feature of the disease is predominantly proximal muscle weakness and the normal intellect of children. In 2017 was nusinersen approved for SMA therapy, it is a member of the antisense nucleotide family. Nusinersen was administered in Slovakia in August 2018 and so far, 43 patients of all SMA types have been treated in three centers: Bratislava, Banská Bystrica and Košice.
- Klíčová slova
- nusinersen,
- MeSH
- lidé MeSH
- management nemoci MeSH
- oligonukleotidy farmakologie terapeutické užití MeSH
- spinální svalová atrofie * diagnóza epidemiologie farmakoterapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
- Geografické názvy
- Slovenská republika MeSH
Introduction: The skin to skin method in the care of newborn has the crucial importance in his postnatal adaptation. In the article we characterize adduced method and point out to the possitive influence of early skin to skin contact on postnatal adaptation of physiological newborn. Aim: The aim of the paper is to point out to benefits of incorporating the skin to skin method into the standard nursing care of newborn. Methods: To obtain the empirical data, we used the method of observation and measurement to monitor pulse, body temperature and self-latching in the control group of physiological newborns using the skin to skin method. In the control group the care of newborn was provided with the standard nursing procedure. We recorded the selected indicators in the observation sheets and then compared them. Results: The study included 90 respondents, physiological newborns. The results point out to better postnatal adaptation of physiological newborns using the skin to skin method. From the average pulse values ensue that the newborns treated with the skin to skin method have lower values of pulse during the whole monitoring process than the newborn treated by the standard method. The average body temperature values on the back of skin to skin newborns are higher throughout the whole time period. Conclusion: Based on the comparison we have confirmed our assumption that the physiological newborn in skin to skin contact has more favourable values in the selected monitoring indicators than the newborn treated with the standard care method and because of that we recommend incorporating this method into the standard nursing care of newborn.
- Klíčová slova
- skin to skin, bonding,
- MeSH
- lidé MeSH
- novorozenec MeSH
- ošetřovatelství v péči o matku a dítě metody MeSH
- poporodní období * fyziologie psychologie MeSH
- postnatální péče metody MeSH
- průřezové studie MeSH
- pulz psychologie statistika a číselné údaje MeSH
- sací chování MeSH
- statistika jako téma MeSH
- tělesná teplota MeSH
- vztahy mezi matkou a dítětem * MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Klíčová slova
- novorozenci, poporodní péče, péče o novorozence, kontakt s dítětem, kangaroo care, skin to skin,
- MeSH
- klokánkování MeSH
This paper describes the method of the newborn skin to skin care. In this is process, an immediate and direct skin to skin contact between mother and newborn is applied immediately after birth till first feeding. Its advantages and beneficial effect is so pronounced that it is recommended to use it in a later period as well. This paper reports a practical procedure to apply the method of skin to skin immediately after birth and also in later period.
Autori v prehľadnom článku rozoberajú problematiku náhlych úmrtí u malých detí (SIDS), stavy, ktoré môžu k nemu viesť (ALTE, apnoe, vrodené poruchy metabolizmu, poloha počas spánku) a tiež možnosti prevencie týchto stavov, ktoré sa využívajú na Slovensku. Ide najmä o poskytovanie domácich apnoe-monitorov, pregraduálnu a postgraduálnu výchovu a taktiež zdravotno- výchovnú činnosť a činnosť Slovenskej nadácie SIDS s odporúčaniami pre primárnu prevenciu SIDS a v neposlednom rade aj o polysomnografické vyšetrenia rizikových detí (súrodenci SIDS, ALTE príhody, poruchy dýchania počas spánku). Uvedenými opatreniami sa v posledných 10. rokoch znížil výskyt SIDS na 1/3 oproti začiatku zberu údajov (80. roky) na hodnoty pod 0,2 ‰ na 1000 živonarodených. Autori analyzujú aj obdobie posledných 2 rokov, keď sa zjavil negatívny trend vzostupu incidencie SIDS na Slovensku.
Authors review questions of sudden infant deaths (SIDS), conditions leading to SIDS (ALTE, congenital metabolic disorders, position during sleep) and possibilities of prevention used in Slovakia. They include home apnoe-monitors, pregraduate and postgraduate education and medical and educational activities, activities of the Slovak SIDS Fund with recommendation for primary prevention of SIDS, and last but not least, polysomnographic examination of risk children (siblings SIDS, ALTE events, breathing disoders during sleep). After using these measures the incidence of SIDS has been reduced in 1/3 in last 10 years if compared with the beginning of data collecting (80 s) to 0,2 ‰ per 1000 live-borns. The authors analyse the last two-year period when negative trend of increase of SIDS in Slovakia occurred.
