Canadian epilepsy priority-setting partnership: Toward a new national research agenda

Background: Health research agendas are often set by researchers or by industry and may not reflect the needs and priorities of end users. This priority-setting partnership (PSP) for epilepsy was undertaken to identify the most pressing unanswered questions about epilepsy and seizures from the perspective of people with epilepsy (PWE) and their care providers. Methods: Using the methodology developed by the James Lind Alliance (JLA), evidence uncertainties were gathered via online surveys from stakeholders across Canada. Submissions were formed into summary questions and checked against existing evidence to determine if they were true uncertainties. Verified uncertainties were then ranked by patients, caregivers, and healthcare providers and a final workshop was held to reach a consensus on the top 10 priorities. Results: The final top 10 list reflects the priority areas of focus for research as identified by the Canadian epilepsy community, including genetic markers for diagnosis and treatment, concerns about living with the long-term effects of epilepsy, and addressing knowledge gaps in etiology and treatment approaches. Conclusion: This project represents the first systematic evidence of patient- and clinician-centered research priorities for epilepsy. The results of this priority-setting exercise provide an opportunity for researchers and funding agencies to align their agendas with the values and needs of the epilepsy community in order to improve clinical outcomes and quality of life (QOL) for PWE

Сategory "symbol" in context of historical process understanding

In the course of their development, people created a special type of culture, representing a specific world of things, values, symbols, which embodied the image containing an idea. One of the key issues in various scientific fields is the definition of the very concept of "symbol". Nowadays, there is such a scientific discipline as symbol study. The authors of the article suggest to consider the origin and the evolution of the concept "symbol" in the context of historical process understanding. A symbol is one of the key concepts of the humanities and social sciences: the culturology of philosophy, sociology, history, psychology, linguistics, political science, ethnography, aesthetics, etc. During the study they established that symbols played an important role in the whole variety of human culture manifestations - in ideology and religion, politics and law, literature and music, painting and architecture, literature, etiquette, advertising and commerce. In its turn, culture can be represented in the form of a system of different symbols embodying the ideas, the ideals and the meanings by which people live in and which determine the development and the functioning of the culture itself

GEOPOLITINĖS REALIJOS PARYŽIAUS IR KAUNO SANTYKIUOSE TARPUKARIU

Apie Vilmos Bukaitės daktaro disertaciją „Lietuvos Respublikos politiniai ir diplomatiniai santykiai su Prancūzija 1919–1940 m.“ ir jos gynim

Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.

The emergence of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated recognition of microdeletions and microduplications as risk factors for both generalised and focal epilepsies. Furthermore, there is evidence that some microdeletions/duplications, such as the 15q13.3 deletion predispose to a range of neuropsychiatric disorders, including intellectual disability (ID), autism, schizophrenia and epilepsy. We hypothesised that array CGH would reveal relevant findings in an adult patient group with epilepsy and complex phenotypes

Pradinių klasių mokinių įgalinimas reflektuoti mokymąsi: lietuvių kalbos vadovėlių teikiamos galimybės

In Lithuania, the enablement of primary form students to reflect on learning, and especially during lessons of the Lithuanian language, is little investigated. Therefore, this paper discusses what possibilities are provided by student books on the Lithuanian language Taip and Pupa in this process. The method of thematic analysis was used for the analysis of the said student books. The research revealed that student books from the series Taip include high-quality instruments to achieve this aim, i.e., questions for children’s reflections, open-ended sentences, starting from form 1. Even though these elements remain the same in particular forms throughout an entire school year, a teacher can employ them for different purposes. It was also found that high quality instruments included in the Lithuanian language student books Pupa, i.e. questions on reflecting about learning, are introduced respectively from form 2. Like in student books on the Lithuanian language Taip, instruments for particular forms are the same for an entire school year. The research also revealed that instruments presented in student book series on the Lithuanian language Taip and Pupa are highly valuable, as teachers have the possibility to empower school students to reflect on learning during Lithuanian language lessons in many various aspects, such as cognitive, sensitive, and emotional activities, the problem and value of learning, decision-making, etc.Straipsnyje aptariama, kokių galimybių teikia lietuvių kalbos vadovėliai „Taip“ ir „Pupa“ (išleisti ne vėliau nei 2016 m, kada buvo atnaujinta „Pradinio ugdymo bendroji programa“) pradinių klasių mokinių įgalinimui reflektuoti mokymąsi. Naudojant teminės analizės metodą aptartos dvi temos: 1. užduočių pateikimas ir jų turinys lietuvių kalbos vadovėliuose „Taip“; 2. užduočių pateikimas ir jų turinys lietuvių kalbos vadovėliuose „Pupa“

Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.

OBJECTIVE: Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug-resistant epilepsy remains unchanged. In this study, we aimed to investigate the role of rare genetic variants in ASM resistance. METHODS: We performed exome sequencing of 1,128 individuals with non-familial non-acquired focal epilepsy (NAFE) (762 non-responders, 366 responders) and were provided with 1,734 healthy controls. We undertook replication in a cohort of 350 individuals with NAFE (165 non-responders, 185 responders). We performed gene-based and gene-set-based kernel association tests to investigate potential enrichment of rare variants in relation to drug response status and to risk for NAFE. RESULTS: We found no gene or gene set that reached genome-wide significance. Yet, we identified several prospective candidate genes - among them DEPDC5, which showed a potential association with resistance to ASMs. We found some evidence for an enrichment of truncating variants in dominant familial NAFE genes in our cohort of non-familial NAFE and in association with drug-resistant NAFE. INTERPRETATION: Our study identifies potential candidate genes for ASM resistance. Our results corroborate the role of rare variants for non-familial NAFE and imply their involvement in drug-resistant epilepsy. Future large-scale genetic research studies are needed to substantiate these findings

Heritability of alpha and sensorimotor network changes in temporal lobe epilepsy.

OBJECTIVE: Electroencephalography (EEG) features in the alpha band have been shown to differ between people with epilepsy and healthy controls. Here, in a group of patients with mesial temporal lobe epilepsy (mTLE), we seek to confirm these EEG features, and using simultaneous functional magnetic resonance imaging, we investigate whether brain networks related to the alpha rhythm differ between patients and healthy controls. Additionally, we investigate whether alpha abnormalities are found as an inherited endophenotype in asymptomatic relatives. METHODS: We acquired scalp EEG and simultaneous EEG and functional magnetic resonance imaging in 24 unrelated patients with unilateral mTLE, 23 asymptomatic first-degree relatives of patients with mTLE, and 32 healthy controls. We compared peak alpha power and frequency from electroencephalographic data in patients and relatives to healthy controls. We identified brain networks associated with alpha oscillations and compared these networks in patients and relatives to healthy controls. RESULTS: Patients had significantly reduced peak alpha frequency (PAF) across all parietal and occipital electrodes. Asymptomatic relatives also had significantly reduced PAF over 14 of 17 parietal and occipital electrodes. Both patients and asymptomatic relatives showed a combination of increased activation and a failure of deactivation in relation to alpha oscillations compared to healthy controls in the sensorimotor network. INTERPRETATION: Genetic factors may contribute to the shift in PAF and alterations in brain networks related to alpha oscillations. These may not entirely be a consequence of anti-epileptic drugs, seizures or hippocampal sclerosis and deserve further investigation as mechanistic contributors to mTLE

Pharmacogenetics of hypersensitivity drug reactions

Adverse drug reactions are a significant cause of morbidity and mortality and represent a major burden on the healthcare system. Some of those reactions are immunologically mediated (hypersensitivity reactions) and can be clinically subdivided into two categories: immediate reactions (IgE-related) and delayed reactions (T-cell-mediated). Delayed hypersensitivity reactions include both systemic syndromes and organ-specific toxicities and can be triggered by a wide range of chemically diverse drugs. Recent studies have demonstrated a strong genetic association between human leukocyte antigen alleles and susceptibility to delayed drug hypersensitivity. Most notable examples include human leukocyte antigen (HLA)-B*57:01 allele and abacavir hypersensitivity syndrome or HLA-B*15:02 and HLA-B*58:01 alleles related to severe cutaneous reactions induced by carbamazepine and allopurinol, respectively. This review aims to explore our current understanding in the field of pharmacogenomics of HLA-associated drug hypersensitivities and its translation into clinical practice for predicting adverse drug reactions