Factors Affecting Citizen Trust and Public Engagement Relating to the Generation and Use of Real-World Evidence in Healthcare

The potential for the use of real-world data (RWD) to generate real-world evidence (RWE) that can inform clinical decision-making and health policy is increasingly recognized, albeit with hesitancy in some circles. If used appropriately, the rapidly expanding wealth of health data could improve healthcare research, delivery of care, and patient outcomes. However, this depends on two key factors: (1) building structures that increase the confidence and willingness of European Union (EU) citizens to permit the collection and use of their data, and (2) development of EU health policy to support and shape data collection infrastructures, methodologies, transmission, and use. The great potential for use of RWE in healthcare improvement merits careful exploration of the drivers of, and challenges preventing, efficient RWD curation. Literature-based research was performed to identify relevant themes and discussion topics for two sets of expert panels, organized by the European Alliance for Personalised Medicine. These expert panels discussed steps that would enable a gradual but steady growth in the quantity, quality, and beneficial deployment of RWE. Participants were selected to provide insight based on their professional medical, economic, patient, industry, or governmental experience. Here, we propose a framework that addresses public trust and access to data, cross-border governance, alignment of evidence frameworks, and demonstrable improvements in healthcare decisions. We also discuss key case studies that support these recommendations, in accordance with the discussions at the expert panels

Methods of pedagogical communication in Preschool education institution

Šiame darbe analizuojamas konkretus atvejis – pedagoginė komunikacija privačioje ikimokyklinėje įstaigoje. Magistrinio darbo uždaviniai buvo keliami ir formuluojami pagal įžvelgiamą problemą: netolygią, nepakankamą privačios ikimokyklinės įstaigos pedagogų komunikaciją su tėvais. Tad šio tyrimo tikslas buvo išanalizuoti privačios ikimokyklinės įstaigos pedagoginės komunikacijos būdus bei numatyti tobulinimo žingsnius. Darbo uždaviniai: teoriškai išanalizuoti mokslinę, pedagoginę, psichologinę, vadybinę, metodinę ir kt. literatūrą pedagoginės komunikacijos tema; atskleisti klientų (tėvų) nuomonę apie organizacijos pedagogų komunikaciją; ištirti, kokius komunikacijos būdus taiko pedagogai, bendraudami su tėvais; išryškinti, kokių sunkumų kyla pedagogams komunikuojant su tėvais; parengti komunikacijos tobulinimo žingsnius. Darbo tikslui pasiekti buvo pasirinktas kokybinio tyrimo metodas – veiklos analizė. Įgyvendinant kokybinę tyrimo strategiją pasirinkta duomenų rinkimo metodų trianguliacija: teorinė analizė, anketinė tėvų apklausa ir pusiau struktūruoti interviu su įstaigoje dirbančiais pedagogais. Šio darbo tyrimas atskleidė: pedagogų iniciatyvos suteikti rūpimos informacijos tėvams trūkumą bei pedagoginės komunikacijos spragas viename iš penkių privačios ikimokyklinės įstaigos filialų. Analizuojant ikimokyklinės ugdymo įstaigos komunikacijos būdus ir priemones išryškėjo, kad net 48 proc. respondentų pasigenda efektyvių privačios ikimokyklinės įstaigos komunikacijos priemonių ar būdų. Pedagogų interviu metu išsiaiškinta, jog ne visiems pedagogams sekasi tolygiai bendrauti su tėvais dėl asmeninių būdo savybių, patirties ar žinių trūkumo. Remiantis gautais tyrimo rezultatais buvo parengti privačios ikimokyklinės įstaigos komunikacijos tobulinimo žingsniai, kurie padėtų pedagogams efektyviai ir tolygiai bendrauti su tėvais. Dešimties žingsnių modelis sukurtas taip, kad tėvų ir pedagogų bendravimas išaugtų į partneriškus santykius bei vyrautų abipusis supratimas.In the thesis, a case study of pedagogical communication in a private pre-school institution is analysed. The objectives of the Master’s thesis were raised and formulated in accordance with an apparent problem – uneven and insufficient communication between the educational staff of the private pre-school institution and parents. Therefore, the thesis aimed at analysing the methods of pedagogical communication in the private pre-school institution and envisaging steps for improvement. The following objectives were raised: to theoretically analyse scientific, pedagogical, psychological, managerial, methodological, and other literature on the topic of pedagogical communication; to reveal the opinion of clients (parents) about the communication with the organisation’s pedagogical staff; to investigate the communication methods used by the pedagogical staff when they communicate with the parents; to highlight the difficulties faced by the pedagogical staff in communication with the parents; to develop steps to improve the communication. To achieve the said aim, a qualitative research method – activity analysis – was chosen. The qualitative research strategy was implemented by conducting the triangulation of data collection methods, namely, theoretical analysis, questionnaire survey of parents, and semi-structured interviews with the pedagogical staff working in the institution. The research revealed the pedagogical staff’s lack of initiative in providing the parents with relevant information, as well as pedagogical communication gaps in one of the five branches of the private pre-school institution. By analysing the methods and means of communication at the pre-school education institution, it became clear that as many as 48 percent of the respondents pointed to the lack of effective means or methods of communication at the private pre-school institution. During the interviews with the pedagogical staff, it was found that not all members of the pedagogical staff succeeded equally in communicating with the parents due to the lack of certain personal characteristics, experience, or knowledge. On the basis of the research results, the steps that would improve the communication in the private pre-school institution and help the pedagogical staff to communicate effectively and evenly with the parents were suggested. The ten-step model was designed in such a way that the communication between the parents and pedagogical staff could develop into a partnership with a shared sense of understanding.Švietimo akademij

Genomic factors in epilepsy etiological structure and diagnostics

Knowledge of genetic epilepsy structure is crucial in clinical practice for proper choice of genetic testing methods and algorithms, and in science for determination of functions and molecular pathways of epilepsy-associated genes, study of ictogenesis/ epileptogenesis mechanisms, and eventually, search for novel treatments of epilepsy. We comprised the most extensive to our knowledge database of genes and monogenic disorders associated with epilepsy or seizures, EpiGene (version 3.0, 985 genes), performed characterization of these genes, analysis of genetic/ clinical structure and diagnostic possibilities of these diseases, constructed a list of 97 diseases that have specific treatments. Next, we created additional tools for genomic diagnostics and identification of candidate genes, including virtual gene panel for next-generation sequencing, genomaps of epilepsy- or seizure-associated genes and a composite gene functional variation intolerance score - Tscore. These tools were applied to genomic testing of 309 patients with epilepsy or seizures. Application of a comprehensive diagnostic exome sequencing method and virtual gene panel to testing of 87 patients allowed us to achieve a high diagnostic yield (49%) and to identify novel candidate genes for monogenic epilepsies. Composite functional variation intolerance score Tscore was more sensitive in the identification of known AD and X-linked epilepsy genes and in the differentiation between AD and AR genes. Application of Tscore for the analysis of copy number variation identified in 222 patients allowed us to comprise a list of candidate genes for the observed phenotypes

Inžinerinės grafikos darbų užduotys : Ž .ū. elektrifikacijos spec. studentams

Vytauto Didžiojo universitetasŽemės ūkio akademij

Rare diseases: still on the fringes of universal health coverage in Europe /

Despite general advancements in population health indicators and universal health coverage, people living with rare diseases and their families still experience considerable unmet needs, including prolonged diagnostic journeys, limited treatment options, and a huge psychosocial burden due to the lack of coordinated, integrated care. Attainment of universal health coverage for rare diseases is dependent on fundamentally different health determinants and demands for different solutions. This involves consolidating expertise through Centers of Excellence, establishing efficient care pathways, fostering extensive collaboration at European and global levels in research and healthcare, and putting patients at the center of care. Furthermore, development of specific indicators and coding systems is crucial for monitoring progress. Only in this way Europe can strive towards a future where people living with rare diseases receive the same level of equitable, safe, high-quality healthcare as other members of the society, in alignment with the overarching goal of leaving no one behind

Braižomosios geometrijos grafinių darbų užduotys : Ž. ū. inžinerijos fak. studentams-neakivaizdininkams

Vytauto Didžiojo universitetasŽemės ūkio akademij

2022 overview of metabolic epilepsies /

Understanding the genetic architecture of metabolic epilepsies is of paramount importance, both to current clinical practice and for the identification of further research directions. The main goals of our study were to identify the scope of metabolic epilepsies and to investigate their clinical presentation, diagnostic approaches and treatments. The International Classification of Inherited Metabolic Disorders and IEMbase were used as a basis for the identification and classification of metabolic epilepsies. Six hundred metabolic epilepsies have been identified, accounting for as much as 37% of all currently described inherited metabolic diseases (IMD). Epilepsy is a particularly common symptom in disorders of energy metabolism, congenital disorders of glycosylation, neurotransmitter disorders, disorders of the synaptic vesicle cycle and some other IMDs. Seizures in metabolic epilepsies may present variably, and most of these disorders are complex and multisystem. Abnormalities in routine laboratory tests and/or metabolic testing may be identified in 70% of all metabolic epilepsies, but in many cases they are non-specific. In total, 111 metabolic epilepsies (18% of all) have specific treatments that may significantly change health outcomes if diagnosed in time. Although metabolic epilepsies comprise an important and significant group of disorders, their real scope and frequency may have been underestimated

Fabry's disease: a clinical case and literature review

Fabry’s disease is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, hypohidrosis, heart and kidney lesions, and other symptoms, which are described below. From 2001, this disease is one of inborn errors of metabolism in which enzyme replacement therapy is applied very effectively. Two atypical forms of the disease were discovered, and the first surveys were done revealing that the incidence of Fabry’s disease can be much more higher than it was considered before. Not only pediatricians can encounter with these patients in their practice, but also family doctors, nephrologists, cardiologists, neurologists, and physicians of other specialties. A clinical case of Fabry’s disease is described, and actual issues of diagnostics and treatment of Fabry’s disease are discussed. In spite of very typical symptoms, delayed diagnosis was made: after the first investigation of a-galactosidase A activity in dry blood sample, diagnosis of Fabry’s disease was rejected; only after lysosomal enzyme activity assay in heparinized blood leukocytes, this diagnosis was confirmed

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently characterized group of type I interferonopathies. The most consistently affected tissues in AGS are the central nervous system and skin, but various organ systems and tissues have been reported to be affected, pointing to the systemic nature of the disease. Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. The histologically proven inflammatory myopathy in our patient expands the range of clinical features of AGS. Histological signs of muscle biopsies in the proband, and in two other AGS patients described earlier, are similar to those seen in various autoimmune myositises and could be ascribed to inapproapriate IFN I activation. In view of signs of possible mitochondrial damage in AGS, we propose that mitochondrial DNA could be a trigger of autoimmune responses in AGS

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment