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
Reallocations of time between daily activities such as sleep, sedentary behavior and physical activity are differentially associated with markers of physical, mental and social health. An individual's most desirable allocation of time may differ depending on which outcomes they value most, with these outcomes potentially competing with each other for reallocations. We aimed to develop an interactive app that translates how self-selected time reallocations are associated with multiple health measures. We used data from the Australian Child Health CheckPoint study (n = 1685, 48% female, 11-12 y), with time spent in daily activities derived from a validated 24-h recall instrument, %body fat from bioelectric impedance, psychosocial health from the Pediatric Quality of Life Inventory and academic performance (writing) from national standardized tests. We created a user-interface to the compositional isotemporal substitution model with interactive sliders that can be manipulated to self-select time reallocations between activities. The time-use composition was significantly associated with body fat percentage (F = 2.66, P < .001), psychosocial health (F = 4.02, P < .001), and academic performance (F = 2.76, P < .001). Dragging the sliders on the app shows how self-selected time reallocations are associated with the health measures. For example, reallocating 60 minutes from screen time to physical activity was associated with -0.8 [95% CI -1.0 to -0.5] %body fat, +1.9 [1.4 to 2.5] psychosocial score and +4.5 [1.8 to 7.2] academic performance. Our app allows the health associations of time reallocations to be compared against each other. Interactive interfaces provide flexibility in selecting which time reallocations to investigate, and may transform how research findings are disseminated.
- MeSH
- cvičení MeSH
- dítě MeSH
- kvalita života * MeSH
- lidé MeSH
- mobilní aplikace * MeSH
- sedavý životní styl MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Austrálie MeSH
Background: Collecting data on the localization of users is a key issue for the MASK (Mobile Airways Sentinel networK: the Allergy Diary) App. Data anonymization is a method of sanitization for privacy. The European Commission's Article 29 Working Party stated that geolocation information is personal data.To assess geolocation using the MASK method and to compare two anonymization methods in the MASK database to find an optimal privacy method. Methods: Geolocation was studied for all people who used the Allergy Diary App from December 2015 to November 2017 and who reported medical outcomes. Two different anonymization methods have been evaluated: Noise addition (randomization) and k-anonymity (generalization). Results: Ninety-three thousand one hundred and sixteen days of VAS were collected from 8535 users and 54,500 (58.5%) were geolocalized, corresponding to 5428 users. Noise addition was found to be less accurate than k-anonymity using MASK data to protect the users' life privacy. Discussion: k-anonymity is an acceptable method for the anonymization of MASK data and results can be used for other databases.
- Publikační typ
- časopisecké články MeSH
- MeSH
- oftalmologie * MeSH
- Publikační typ
- biografie MeSH
- O autorovi
- Doležalová, Vlasta, 1923- Autorita
INTRODUCTION: Cardiovascular diseases (CVD), notably acute myocardial infarction (AMI), persist as a leading cause of global mortality despite advances in clinical management. Coordinated cardiac rehabilitation (CR) programs, such as the Coordinated Patient Care Program after Myocardial Infarction (MC-AMI), have demonstrated substantial reductions in mortality rates. However, optimizing outpatient care within these programs remains a challenge due to increasing patient volumes and physician workloads. This issue could be alleviated by using technology. Leveraging telemedicine solutions, particularly mobile apps, presents a promising avenue for addressing these challenges. AIM: The main objectives of this study were to determine if the dedicated mobile app for the cardiac rehabilitation program optimizes outpatient visit workflow and improves patient adherence to the CR program. PATIENTS AND METHODS: This observational study enrolled 103 patients after AMI, who completed the CR program and were eligible for the outpatient follow-up. Patients were divided into two groups: (1) the active group (n = 60) treated with a standard of care supplemented with the AHP-KOS app, and (2) the reference group (n = 43) treated with standard care without the AHP-KOS app. The first outpatient CR visit occurred 6 weeks after AMI. RESULTS: Implementation of the AHP-KOS app was associated with higher adherence to the CR program (91.7% of patients using the mobile app completed 6-week outpatient visits vs. 67.4% of individuals treated with standards of care, p < 0.001). Additionally, the duration of onsite visits was significantly reduced in the active vs. reference group (8 ± 3 min. vs. 11 ± 4 min, p < 0.001, respectively). CONCLUSIONS: The AHP-KOS mobile app implemented in post-AMI resulted in higher adherence to the CR program (MC-AMI). Furthermore, the application of the AHP-KOS app resulted in financial and workflow optimization allowing for a significantly shorter time of outpatient visits.
- 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.
