The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms. Here, we present Phenopacket Store. Phenopacket Store v.0.1.19 includes 6,668 phenopackets representing 475 Mendelian and chromosomal diseases associated with 423 genes and 3,834 unique pathogenic alleles curated from 959 different publications. This represents the first large-scale collection of case-level, standardized phenotypic information derived from case reports in the literature with detailed descriptions of the clinical data and will be useful for many purposes, including the development and testing of software for prioritizing genes and diseases in diagnostic genomics, machine learning analysis of clinical phenotype data, patient stratification, and genotype-phenotype correlations. This corpus also provides best-practice examples for curating literature-derived data using the GA4GH Phenopacket Schema.
- MeSH
- Algorithms MeSH
- Databases, Genetic MeSH
- Phenotype * MeSH
- Genomics * methods MeSH
- Humans MeSH
- Software * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Background: The COVID-19 pandemic disrupted traditional qualitative research methods, necessitating innovative approaches to data collection that avoided physical contact. Aim: To introduce and reflect upon audio diaries as a novel qualitative technique for capturing healthcare workers' lived experiences in crisis contexts. Methods: Healthcare professionals in Barcelona, Spain, recorded their thoughts, reflections, and concerns using WhatsApp audio notes. The study was conducted in two phases: the first during the initial pandemic wave (March-July 2020) and the second during a less restrictive period. Results: In the first phase, seven healthcare professionals provided 147 audio entries (2-10 minutes each). In the second phase, five professionals submitted 12 entries (26 seconds to 23 minutes). Audio diaries demonstrated several strengths, including efficiency, authenticity promotion, establishment of an informal therapeutic space, and the capturing of emotional content through voice tonality. Conclusion: Audio diaries offer a valuable alternative for collecting rich, transferable data in situations where traditional face-to-face techniques are not feasible, particularly in crisis contexts. This methodological innovation has implications for future qualitative research, especially in challenging or restricted environments.
Právní instituty
Vydání první xiv, 131 stran ; 23 cm
Publikace se zaměřuje na současné české právo, které se týká veřejných zakázek na software. Určeno odborné veřejnosti.; Kniha se věnuje zadávání veřejných zakázek v oblasti softwaru. Autor v ní definuje specifika, která se s tímto druhem plnění pojí, a poskytuje praktický návod, jak dané zvláštnosti zohlednit v postupu veřejného zadavatele, zejména pak v předmětu veřejné zakázky a v rámci kritérií technické kvalifikace. Svá doporučení vždy testuje ve světle zásad veřejného zadávání. Zvláštní pozornost je věnována problematice vendor lock-inu a jeho řešení v navazujících zakázkách.
- Keywords
- obchodní právo,
- MeSH
- Economic Competition legislation & jurisprudence MeSH
- Commerce legislation & jurisprudence MeSH
- Contracts legislation & jurisprudence MeSH
- Software economics legislation & jurisprudence MeSH
- Credentialing legislation & jurisprudence MeSH
- Public Sector legislation & jurisprudence MeSH
- Legislation as Topic MeSH
- Publication type
- Monograph MeSH
- Geographicals
- Czech Republic MeSH
Právní praxe
2. vydání xix, 305 stran ; 23 cm
Příručka, která se zaměřuje na současné české právo, které se týká licencování, nákupu a prodeje softwaru. Určeno odborné veřejnosti.; Publikace slouží jako komplexní průvodce softwarovými smlouvami pro právníky, IT manažery, obchodní manažery a odborníky z technologického sektoru. Text systematicky představuje osvědčené smluvní formulace vhodné jak pro objednatele, tak pro dodavatele softwaru, a současně upozorňuje na častá pochybení v praxi.
- Keywords
- obchodní právo,
- MeSH
- Copyright legislation & jurisprudence MeSH
- Licensure legislation & jurisprudence MeSH
- Commerce legislation & jurisprudence MeSH
- Liability, Legal MeSH
- Contracts legislation & jurisprudence MeSH
- Software economics legislation & jurisprudence MeSH
- Legislation as Topic MeSH
- Publication type
- Handbook MeSH
- Geographicals
- Czech Republic MeSH
Tools for post-operative localization of deep brain stimulation (DBS) electrodes may be of major benefit in the evaluation of the stimulation area. However, little is known about their precision. This study compares 3 different software packages used for DBS electrode localization. T1-weighted MRI images before and after the implantation of the electrodes into the subthalamic nucleus for DBS in 105 Parkinson's disease patients were processed using the pipelines implemented in Lead-DBS, SureTune4, and Brainlab. Euclidean distance between active contacts determined by individual software packages and in repeated processing by the same and by a different operator was calculated. Furthermore, Dice coefficient for overlap of volume of tissue activated (VTA) was determined for Lead-DBS. Medians of Euclidean distances between estimated active contact locations in inter-software package comparison ranged between 1.5 mm and 2 mm. Euclidean distances in within-software package intra- and inter-rater assessments were 0.6-1 mm and 1-1.7 mm, respectively. Median intra- and inter-rater Dice coefficients for VTAs were 0.78 and 0.75, respectively. Since the median distances are close to the size of the target nucleus, any clinical use should be preceded by careful review of the outputs.
- MeSH
- Deep Brain Stimulation * methods instrumentation MeSH
- Electrodes, Implanted * MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Subthalamic Nucleus surgery MeSH
- Parkinson Disease * therapy MeSH
- Aged MeSH
- Software MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Navrhovaná studie proveditelnosti využívá aplikaci „OCD dům“, vytvořenou v prostředí virtuální reality (VR) pro expoziční terapii u pacien- tů s obsedantně-kompulzivní poruchou (OCD). Metoda byla vyvinuta na základě dimenzionálního přístupu k symptomatologii OCD, který vyčleňuje čtyři podtypy: „kontaminace/čištění“, „symetrie/uspořádání“, „strach z poškození/kontrola“ a „hromadění“. Cílem probíhající studie proveditelnosti je ověřit účinnosti již dříve validované expoziční metody ve spojení s čichovou stimulací. Předpokládáme, že čichová stimulace během expozice ve VR zvýší vnímanou realističnost a potenciálně také intenzitu symptomů vyvolaných touto čichově obohacenou simulací.
The proposed feasibility study uses the application "OCD house" created in a virtual reality (VR) environment for exposure therapy in pati- ents with obsessive-compulsive disorder (OCD). The method was designed based on a dimensional approach to OCD symptomatology, which distinguishes four subtypes: 'contamination/cleaning', 'symmetry/ordering', 'fear of harm/checking' and 'hoarding'. An ongoing feasibility study aims to test the previously validated exposure method in combination with olfactory stimulation. We hypothesize that olfactory stimu- lation during exposure in VR will increase the perceived level of immersion in the environment and potentially also the assessed intensity of symptoms induced by this olfactory-enriched simulation.
- MeSH
- Olfactory Perception MeSH
- Adult MeSH
- Implosive Therapy methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Obsessive-Compulsive Disorder * therapy MeSH
- Software MeSH
- Statistics as Topic MeSH
- Feasibility Studies MeSH
- Virtual Reality Exposure Therapy * methods MeSH
- Anxiety therapy MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
BACKGROUND: Effective diabetes management requires a multimodal approach involving lifestyle changes, pharmacological treatment, and continuous patient education. Self-management demands can be overwhelming for patients, leading to lowered motivation, poor adherence, and compromised therapeutic outcomes. In this context, digital health apps are emerging as vital tools to provide personalized support and enhance diabetes management and clinical outcomes. OBJECTIVE: This study evaluated the impact of the digital health application Vitadio on glycemic control in patients with type 2 diabetes mellitus (T2DM). Secondary objectives included evaluating its effects on cardiometabolic parameters (weight, BMI, waist circumference, blood pressure, and heart rate) and self-reported measures of diabetes distress and self-management. METHODS: In this 6-month, 2-arm, multicenter, unblinded randomized controlled trial, patients aged 18 years or older diagnosed with T2DM were randomly assigned (1:1) to an intervention group (IG) receiving standard diabetes care reinforced by the digital health app Vitadio or to a control group (CG) provided solely with standard diabetes care. Vitadio provided a mobile-based self-management support tool featuring educational modules, motivational messages, peer support, personalized goal setting, and health monitoring. The personal consultant was available in the app to provide technical support for app-related issues. The primary outcome, assessed in the intention-to-treat population, was a change in glycated hemoglobin (HbA1c) levels at 6 months. Secondary outcomes included changes in cardiometabolic measures and self-reported outcomes. Data were collected in 2 study centers: diabetologist practice in Dessau-Roßlau and the University of Dresden. RESULTS: Between November 2022 and June 2023, a total of 276 patients were screened for eligibility, with 149 randomized to in intervention group (IG; n=73) and a control group (CG; n=76). The majority of participants were male (91/149, 61%). The dropout rate at month 6 was 19% (121/149). While both groups achieved significant HbA1c reduction at 6 months (IG: mean -0.8, SD 0.9%, P<.001; CG: mean -0.3, SD 0.7%, P=.001), the primary confirmatory analysis revealed statistically significant advantage of the IG (adjusted mean difference: -0.53%, SD 0.15, 95% CI -0.24 to -0.82; P<.001; effect size [Cohen d]=0.67, 95% CI 0.33-1). Significant between-group differences in favor of the IG were also observed for weight loss (P=.002), BMI (P=.001) and systolic blood pressure (P<.03). In addition, Vitadio users experienced greater reduction in diabetes-related distress (P<.03) and obtained more pronounced improvements in self-care practices in the areas of general diet (P<.001), specific diet (P<.03), and exercise (P<.03). CONCLUSIONS: This trial provides evidence for the superior efficacy of Vitadio in lowering the HbA1c levels in T2DM patients compared to standard care. In addition, Vitadio contributed to improvements in cardiometabolic health, reduced diabetes-related distress, and enhanced self-management, highlighting its potential as an accessible digital tool for comprehensive diabetes management. TRIAL REGISTRATION: German Clinical Trials Registry DRKS00027405; https://drks.de/search/de/trial/DRKS00027405.
- MeSH
- Diabetes Mellitus, Type 2 * blood therapy MeSH
- Adult MeSH
- Glycated Hemoglobin analysis MeSH
- Middle Aged MeSH
- Humans MeSH
- Mobile Applications * MeSH
- Self Care MeSH
- Self-Management MeSH
- Aged MeSH
- Telemedicine MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Randomized Controlled Trial MeSH
Klimatické změny vedou v posledních letech k prodloužení pylové sezóny, respektive k jejímu časnějšímu začátku. Mobilní aplikace umožnují dnes pacientům monitorovat aktuální pylovou situaci, zaznamenávat vlastní klinické obtíže a lépe dodržovat compliance k léčbě. Klinické projevy pylové alergie zahrnují nejčastěji alergickou rhinokonjunktivitidu. V příspěvku zmiňuji zásady symptomatické farmakoterapie alergické rýmy a kauzální léčbu - specifickou alergenovou imunoterapii.
Pollen season lasts longer because of its earlier start due to recent climate changes. Mobile apps enable pollen monitoring, help patients describe their clinical symptoms, and improve compliance with therapy. Allergic rhinoconjunctivitis is the most frequent clinical symptom. This paper provides info about symptomatic pharmacotherapy as well as about causal treatment- about specific allergen immunotherapy.
- MeSH
- Allergens adverse effects therapeutic use MeSH
- Hypersensitivity * etiology drug therapy MeSH
- Histamine H1 Antagonists therapeutic use MeSH
- Administration, Intranasal MeSH
- Adrenal Cortex Hormones therapeutic use MeSH
- Immunotherapy methods MeSH
- Consumer Health Informatics methods MeSH
- Internet MeSH
- Drug Therapy, Combination MeSH
- Humans MeSH
- Mobile Applications MeSH
- Pollen adverse effects MeSH
- Rhinitis, Allergic, Seasonal * etiology drug therapy MeSH
- Check Tag
- Humans MeSH
