Východisko. Přestože byly již popsány bodové mutace v genu pro prekurzor amyloidního proteinu u nemocných s Alzheimerovou demencí, stále existuje část nemocných, u nichž nebyla tato mutace nalezena a nebyla rovněž nalezena vazba k dalším uvažovaným genetickým lokusům na chromozomech 14 a 19. Proto byla skupina osob s Alzheimerovou demencí podrobena testování na přítomnost mutace v APP genu (v pozici 717). Metody a výsledky. U vybrané skupiny osob s Alzheimerovou demencí (AD) jsou nacházeny mutace v genu pro prekurzor amyloidního proteinu v pozici 717 jeho transmembránové domény. Analyzovali jsme genomovou DNA mozkové tkáně osob české národnosti pro přítomnost této mutace pomocí polymerázové řetězové reakce s následným ověřením sekvenační analýzou. U každé osoby byla prováděna genetická analýza z mozkových oblastí lobus frontalis, lobus temporalis, lobus parietalis a hippocampus. Použité metody byly polymerázová řetězová reakce (PCR), sekvenace. Z celkového počtu 18 osob s prokázanou Alzheimerovou demencí a 6 nepříbuzných osob bez histopatologických znaků Alzheimerovy demence po 90. roce života, byly nalezeny 3 sekvenační změny v pozici 717 exonu 17 transmembránové domény prekurzoru beta-4 amyloidního glykoproteinu. V prvním případě se jednalo o záměnu thyminu za adenin v kodonu 717, ve druhém případě se jednalo o záměnu cytosinu za thymin, ve třetím případě byla nalezena sporadická mutace guaninu za thymin v kodonu 717. Závěry. Ukazuje se, že kodon 717 by mohl být tzv. hot-spot místem preferovaným pro přednostní vznik mutací v kodonu 717 genu pro amyloidní proteinový prekurzor (APP).
Background. Although locus mutations in the gene for the amyloid precursor protein were already described in patients with Alzheimer's disease, there still are some patients where this mutation was not found and no link was found with other possible genetic loci on chromosomes 14 and 19. Therefore a group of subjects with Alzheimer's disease was subjected to tests for the presence of a mutation in the APP gene (in position 717). Methods and Results. In a selected group of subjects with Alzheimer's disease (AD) in the gene for amyloid precursor protein in position 717 mutations of its transmembraneous region are found. The authors analyzed the genome DNA of cerebral tissue of Czech subjects for the presence of this mutation by means of the polymerase chain reaction with subsequent verification by sequencing analysis. In every subject genetic analyses from cerebral areas of the frontal lobe, temporal lobe, parietal lobe and hippocampus were performed. The methods used were the polymerase chain reaction (PCR) and sequencing. From the total number of 18 subjects with confirmed Alzheimer's disease and six non-related subjects without histopathological signs of Alzheimer's disease after the age of 90 years, three sequencing changes were found in position 717 of exon 17 of the transmembranous region of the precursor of beta-4 amyloid glycoprotein. In the first case it was substitution of thymin for adenine in codon 717, in the second case substitution of cytosine for thymine, in the third case a sporadic mutation of guanine for thymine in codon 717 was found. Conclusions. It was revealed that codon 717 could be a so-called hot spot site preferred for the preferential development of mutations in codon 717 in the gene for the amyloid precursor protein (APP).
Primární imunodeficience jsou skupinou čítající v současné době přes 450 onemocnění, jejichž klinický a laboratorní fenotyp je často velmi nespecifický, což představuje zásadní překážku ve vytipování rizikových pacientů, promptní diagnostice a cílené léčbě. V rámci projektu Primary ImmunoDeficiency Look-up App (PIDLA) jsme vytvořili aplikaci napomáhající lékařům v diferenciální diagnostice vrozených poruch imunity. Aplikace je postavena na základech mezinárodní klasifikace primárních imunodeficiencí IUIS z roku 2020 a využívá sofistikovaných vyhledávacích a řadících algoritmů. V textu popisujeme metodu tvorby aplikace a demonstrujeme její funkci. PIDLA je volně dostupný na webové stránce www.pidla.eu.
Primary immunodeficiencies are now a group of over 450 diseases, whose clinical and laboratory phenotypes can be very ambiguous and therefore present a major hurdle to the selection of high-risk patients, quick diagnosis and targetted therapy. As part of the Primary ImmunoDeficiency Look-up App (PIDLA) project we created an app which assists physicians in the differential diagnosis of inborn errors of the immunity. The app is based on the international classification of primary immunodeficiencies IUIS from the year 2020 and utilizes sophisticated searching and ranking algorithms. In this text we describe the method of app development and demonstrate its function. PIDLA is freely available at the webpage www.pidla.eu.
- Klíčová slova
- PIDLA,
- MeSH
- algoritmy MeSH
- diferenciální diagnóza MeSH
- nemoci imunitního systému MeSH
- primární imunodeficience * diagnóza MeSH
- příznaky a symptomy MeSH
- využití lékařské informatiky * MeSH
- Publikační typ
- přehledy MeSH
- Geografické názvy
- Česká republika MeSH
The use of online communities and websites for health information has proliferated along with the use of mobile apps for managing health behaviors such as diet and exercise. The scarce evidence available to date suggests that users of these websites and apps differ in significant ways from non-users but most data come from US- and UK-based populations. In this study, we recruited users of nutrition, weight management, and fitness-oriented websites in the Czech Republic to better understand who uses mobile apps and who does not, including user sociodemographic and psychological profiles. Respondents aged 13-39 provided information on app use through an online survey (n = 669; M age = 24.06, SD = 5.23; 84% female). Among users interested in health topics, respondents using apps for managing nutrition, weight, and fitness (n = 403, 60%) were more often female, reported more frequent smartphone use, and more expert phone skills. In logistic regression models, controlling for sociodemographics, web, and phone activity, mHealth app use was predicted by levels of excessive exercise (OR 1.346, 95% CI 1.061-1.707, p < .01). Among app users, we found differences in types of apps used by gender, age, and weight status. Controlling for sociodemographics and web and phone use, drive for thinness predicted the frequency of use of apps for healthy eating (β = 0.14, p < .05), keeping a diet (β = 0.27, p < .001), and losing weight (β = 0.33, p < .001), whereas excessive exercise predicted the use of apps for keeping a diet (β = 0.18, p < .01), losing weight (β = 0.12, p < .05), and managing sport/exercise (β = 0.28, p < .001). Sensation seeking was negatively associated with the frequency of use of apps for maintaining weight (β = - 0.13, p < .05). These data unveil the user characteristics of mHealth app users from nutrition, weight management, and fitness websites, helping inform subsequent design of mHealth apps and mobile intervention strategies.
- MeSH
- cvičení MeSH
- dospělí MeSH
- index tělesné hmotnosti MeSH
- internet * MeSH
- lidé MeSH
- logistické modely MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mobilní aplikace * MeSH
- osobnost MeSH
- průřezové studie MeSH
- průzkumy a dotazníky MeSH
- telemedicína * metody MeSH
- tělesná hmotnost MeSH
- věkové faktory MeSH
- zdravý životní styl * MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Knowledge of the characteristics of adolescents who use mobile health (mHealth) apps to monitor health and how these characteristics differ from those of app nonusers is limited. OBJECTIVE: We aimed to determine mHealth app use based on adolescent and parental factors, including sociodemographics, digital skills, and health indicators, in a nationally representative sample of Czech adolescents (N=2500). METHODS: Adolescents aged 11 to 16 years and one of their parents participated in an online survey in 2021. A professional research agency recruited the participants. Quotas were used to ensure the sample's representativeness. The sociodemographic factors were the adolescents' age, gender, and parental perceived financial security. The adolescents also provided information about their screen time, eHealth literacy, BMI, health anxiety, physical activity, and sleep quality. Parents reported their digital skills, mobile phone attitudes, and the mediation of their children's online health information-seeking behaviors. We evaluated the differences between the users and nonusers of mHealth apps and identified the significant predictors of mHealth app use. Next, we separately examined how these factors were associated with the use of mHealth apps that track calorie intake or expenditure, number of steps, weight, or sports activity (eg, exercise, running, and working out), as well as other mHealth apps (eg, those that track sleep and heart rate). RESULTS: More than half of the adolescents (1429/2455, 58.21%) reported using mHealth apps. App users were relatively older and, more often, girls. Apps that counted the number of steps were used most frequently, and adolescents whose parents reported higher perceived financial security used them more regularly. Overall, being older and physically active and having higher eHealth literacy skills were associated with using mHealth apps. Adolescents with higher BMI, health anxiety, and lower sleep quality more frequently used mHealth apps to track calorie intake or expenditure, weight, and health indicators. mHealth apps to track physical activity were used more regularly by girls. There was a positive association between parental mediation of online health information-seeking behaviors and adolescents' mHealth app use. CONCLUSIONS: These findings demonstrated that older age, physical activity, and eHealth literacy skills were the common underlying factors of adolescents' mHealth app use. We initially showed parents as significant role models for their children's adoption of, and engagement with, mHealth apps when they actively mediate their online health information-seeking behaviors. Improving the eHealth literacy skills of adolescents through parental guidance might enhance health technology use in this population. Tracking eating behaviors, weight, and health were more prevalent for adolescents who reported higher BMI, health anxiety, and lower sleep quality. Future research studies should examine the determinants and health outcomes of adolescents' mHealth app use longitudinally.
- MeSH
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mobilní aplikace * MeSH
- mobilní telefon * MeSH
- průřezové studie MeSH
- rodiče MeSH
- telemedicína * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
In the initial part of the contribution the reader is made familiar with the main aim of the project, the individual phases of the project and planned outputs of the project. In the second part of the contribution there is a description of the possibilities of e - learning in general and at the Faculty of Medicine in Hradec Kralove, where the program LMS Moodle has been used for e-learning for 8 years. With regards to the project timetable it ́s possible to present to the reader the results of the questionnaire and the elaborated electronic courses. In the part about methods and materials the readers get to know the Moodle Mobile App, there is a description of its possibilities of use when working with the courses and it takes into account the experience of the authors at our faculty. The conclusion of the contribution thus concludes the possibilities of use of the Moodle Mobile App and is different from the project that is in its first phase.
The rapid evolution of technologies is a key innovation in the organisation and management of physical activities (PA) and sports. The increase in benefits and opportunities related to the adoption of technologies for both the promotion of a healthy lifestyle and the management of chronic diseases is evident. In the field of telehealth, these devices provide personalised recommendations, workout monitoring and injury prevention. The study aimed to provide an overview of the landscape of technology application to PA organised to promote active lifestyles and improve chronic disease management. This review identified specific areas of focus for the selection of articles: the utilisation of mobile APPs and technological devices for enhancing weight loss, improving cardiovascular health, managing diabetes and cancer and preventing osteoporosis and cognitive decline. A multifactorial intervention delivered via mobile APPs, which integrates PA while managing diet or promoting social interaction, is unquestionably more effective than a singular intervention. The main finding related to promoting PA and a healthy lifestyle through app usage is associated with "behaviour change techniques". Even when individuals stop using the APP, they often maintain the structured or suggested lifestyle habits initially provided by the APP. Various concerns regarding the excessive use of APPs need to be addressed.
- MeSH
- behaviorální terapie MeSH
- cvičení psychologie MeSH
- dieta MeSH
- lidé MeSH
- mobilní aplikace * MeSH
- telemedicína * MeSH
- životní styl MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND: Informal caregivers are vital in caring for their family and friends at home who may have illnesses or disabilities. In particular, the demands for caregiving can be even more challenging for those with limited resources, support systems, and language barriers, such as immigrant informal caregivers. They face complex challenges in providing care for their relatives. These challenges can be related to sociocultural diversity, language barriers, and health care system navigation. Acknowledging the global context of the increasing number of immigrants is essential in designing inclusive mobile health apps. OBJECTIVE: This study aims to investigate the needs of immigrant informal caregivers in Sweden and discuss the application of the Persuasive System Design Model (PSDM) to develop an e-coaching prototype. By addressing the unique challenges faced by immigrant informal caregivers, this study will contribute to the development of more effective and inclusive mobile health apps. METHODS: The participants were considered immigrants and included in the study if they and their parents were born outside of Sweden. Through various channels, such as the National Association of Relatives, rehabilitation departments at municipalities, and immigrant groups, we recruited 13 immigrant informal caregivers. These immigrant informal caregivers were primarily women aged 18 to 40 years. Most participants belonged to the Middle Eastern region whereas some were from North Africa. However, all of them spoke Arabic. We used semistructured interviews to gather data from the participants in Arabic, which were translated into English. Data were analyzed using thematic analysis and discussed in relation to the extended PSDM. The needs of the caregivers were compared with the description of persuasive design principles, and a design principle was chosen based on the match. The PSDM was extended if the need description did not match any principles. Several brainstorming and prototyping sessions were conducted to design the mobile e-coaching app. RESULTS: Immigrant informal caregivers have various needs in their caregiving role. They reported a need for training on the illness and future caregiving needs, assistance with understanding the Swedish language and culture, and help with accessing internet-based information and services. They also required recognition and appreciation for their efforts, additional informal support, and easy access to health care services, which can be important for their mental health. The PSDM was adapted to the informal caregiving context by adding "facilitating conditions" and "verbal encouragement" as additional persuasive design principles. This study also presents the subsequent mobile e-coaching app for immigrant informal caregivers in Sweden. CONCLUSIONS: This study revealed important immigrant informal caregivers' needs based on which design suggestions for a mobile e-coaching app were presented. We also proposed an adapted PSDM, for the informal caregiving context. The adapted PSDM can be further used to design digital interventions for caregiving.
- MeSH
- dospělí MeSH
- emigranti a imigranti * MeSH
- lidé MeSH
- mentoring * MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mobilní aplikace * MeSH
- osoby pečující o pacienty MeSH
- přesvědčovací komunikace MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
