- MeSH
- Acromegaly drug therapy MeSH
- Biomedical Research MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
Podstatou syndromu Smithové-Magenisové (SMS) je vrozená genetická vada, při níž je postižen sedmnáctý chromosom. Jedná se o tzv. mikrodeleční syndrom, který je způsoben abnormalitou v délce krátkého (p) raménka chromosomu 17p11.2. Někdy se také hovoří o tzv. 17p-syndromu. Řada genů chromosomu 17 byla již zmapována, jejich jednotlivé role nejsou dosud známy. Soudí se, že haploinsuficience několika genů chromosomu 17 je pravděpodobně zodpovědná za typický fenotyp SMS. Incidence onemocnění se odhaduje na 1 : 25 000. Syndrom je spojen s neurobehaviorálními příznaky, jako jsou hyperaktivita, impulsivita, náhlé změny nálady, poruchy pozornosti a poruchy spánku. Charakteristické jsou časté nezvladatelné záchvaty vzteku doprovázené sebepoškozováním. Mentální vývoj bývá ukončen na úrovni zhruba čtyřletého dítěte. Spánkové poruchy a poruchy chování by mohly částečně souviset s převráceným (denním) vylučováním melatoninu. Časné zahájení multidimenzionální týmové terapie je nezbytné k celkové stimulaci vývoje dítěte. Z dosud publikovaných dat lze konstatovat, že beta-adrenergní antagonisté v kombinaci s podáváním exogenního melatoninu zmírňují projevy nevhodného chování a jsou efektní při obnově spánkového rytmu.
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The syndrome is due to an abnormality in the short (p) arm of chromosomes and is sometimes called the 17p-syndrome. The major features of this condition include mild to moderate mental retardation, distinctive facial features, and sleep disturbances. People with Smith-Magenis syndrome most also have behavioral problems. These include anxiety, aggression, impulsiveness, and difficulty paying attention. Self-injury is very common. Treatment for Smith-Magenis syndrome relies on managing its symptoms. Children with SMS often require several forms of support, including multidimensional therapy. In combination with exogenous melatonin, adrenergic antagonist can improve sleep and sleep timing, increase concentration, and aid in improvement of behavior.
- Keywords
- mentální retardace, poruchy chování, poruchy spánku, syndrom mikrodelece chromosomu 17p11.2,
- MeSH
- Chromosome Disorders diagnosis etiology MeSH
- Circadian Rhythm drug effects MeSH
- Phenotype MeSH
- Genetic Diseases, Inborn diagnosis etiology drug therapy MeSH
- Genetic Techniques MeSH
- Humans MeSH
- Chromosomes, Human, Pair 17 genetics MeSH
- Melatonin metabolism adverse effects MeSH
- Intellectual Disability MeSH
- Child Behavior Disorders MeSH
- Sleep Wake Disorders MeSH
- Child, Preschool MeSH
- Practice Guidelines as Topic MeSH
- Check Tag
- Humans MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
BACKGROUND: eHealth interventions can help people change behavior (eg, quit smoking). Reminders sent via SMS text messaging or email may improve the adherence to web-based programs and increase the probability of successful behavior change; however, it is unclear whether their efficiency is affected by the modality of the communication channel. OBJECTIVE: A 2-armed randomized control trial was conducted to compare the effect of providing reminders via SMS text messaging versus email on the adherence to an eHealth program for smoking cessation and on the probability to initiate a quit attempt. METHODS: Smokers were recruited via an internet-based advertisement. A total of 591 participants who diverted from intended use of the program (ie, failed to log on to a session) were automatically randomized to the experimental (SMS text messaging reminder, n=304) or the active comparator (email reminder, n=287) group. RESULTS: Unexpectedly, we found that the mode of reminder delivery did not significantly affect either the adherence, namely the number of completed program sessions, with the SMS text messaging reminder group showing a mean of 4.30 (SD 3.24) and the email reminder group showing a mean of 4.36 (SD 3.27) (t586=0.197, P=.84, and Cohen d=0.016), or the outcome, namely the quit smoking attempt rate (34.2% in the SMS text messaging group vs 31.7% in the email group; χ21=0.4, P=.52). Secondary analyses showed that age, gender, and education had significant effects on program adherence and education on the outcome. Moreover, we found a significant interaction effect between the mode of reminder delivery and gender on program adherence, suggesting that the effectiveness of SMS text message reminders might be different for females and males. However, this particular finding should be treated with care as it was based on post hoc subgroup analysis. CONCLUSIONS: This study indicates that the modality of user reminders to log on increased neither the program adherence nor the probability of quitting smoking. This suggests that program developers may save costs using emails instead of SMS text messaging reminders. TRIAL REGISTRATION: ClinicalTrials.gov NCT03276767; https://clinicaltrials.gov/ct2/show/ NCT03276767.
- MeSH
- Electronic Mail MeSH
- Electronics MeSH
- Smokers MeSH
- Humans MeSH
- Smoking Cessation * MeSH
- Text Messaging * MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Randomized Controlled Trial MeSH
Internet se v dnešní době stává stále důležitějším médiem. Tento příspěvek zahrnuje bezpečnostní strategii přístupu do Internetu společnosti SMS a využití Internetu/Intranetu při přístupu k lékařským údajům o pacientech.
- MeSH
- Electronic Prescribing * MeSH
- Pharmacies * MeSH
- Drug Prescriptions MeSH
- Humans MeSH
- Check Tag
- Humans MeSH
- MeSH
- Epidemiology MeSH
- Communicable Diseases MeSH
- Publication type
- Index MeSH
- MeSH
- Epidemiology MeSH
- Publication type
- Index MeSH
