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This book presents the first large overview of late Soviet religiosity across severalconfessions and Soviet republics, from the 1960s to the 1980s. Based on a broad range of new sources on the daily life of religious communities, including material from regional archives and oral history, it shows that religion not only survived Soviet anti-religious repression but also adapted to new conditions. Going beyond traditional views about a mere "returned of the repressed", the book shows how new forms of religiosity and religious socialisation emerged, as new generations born into atheist families turned to religion in search of new meaning, long before perestroika facilitated this process. In addition, the book examines anew religious activism and transnational networks between Soviet believers and Western organisations during the Cold War, explores the religious dimension of Soviet female activism, and shifts the focus away from the non-religious human rights movement and from religious institutions to ordinary believers.

Spel inom virtuell verklighet (VR) förväntas, genom framsteg inom teknik och innehåll, leda till starkare fördjupning, realism och tillgänglighet, vilket i sin tur kommer att omforma hur spelare interagerar med virtuella världar i framtiden. I VR-spel är känslan av fördjupning och närvaro, starkt relaterad till användarupplevelsen av ett spels visuella design, interaktion och rörelse intuitivitet. Majoriteten av studier berör dessa faktorer, men saknar utrymme för bearbetning kring hur spelkomponenter ska utformas ur användarens perspektiv. För att fylla forskningsluckan och undersöka VR-spelares uppfattning om det nuvarande VR-mediet, utfördes semi-strukturerade intervjuer med 11 erfarna VR-spelare. Resultatet visade att trots de stora framsteg som VR-industrin gjort, finns det fortfarande utrymme för förbättringar inom olika områden för att skapa fullt immersiva och verklighetsförvrängande VR-upplevelser. Med hänsyn till detta bör forskare och utvecklare, ur ett explorativt tillvägagångssätt, involvera VR-spelare i större utsträckning för att göra bättre designval. VR-utvecklare bör dessutom fokusera på att utföra fler användartester, öka implementering av befintliga och giltiga riktlinjer, samt fokusera på samhörigheten av allt från speldesign till hårdvaru- och mjukvaruoptimering. Med ett användarfokuserat tillvägagångssätt bidrar studien till den pågående diskussionen om hur användarupplevelsen kan förbättras inom VR-spel.

By highlighting the essential features of dark tourism and its development trends, the author focuses on Holocaust memorial sites in Latvia as possible destinations for dark tourism routes. The article points to the ambiguous and often contrastive attitude of the local community towards the use of these places for dark tourism purposes, which is related to the way how and whether local communities and different social groups preserve Holocaust events in their living memories. According to the author, Holocaust memorial sites can be described as the sites of selected silence, and this designation quite accurately describes how society in Latvia remembers and preserves memories of its tragic historical heritage., By highlighting the essential features of dark tourism and its development trends, the author focuses on Holocaust memorial sites in Latvia as possible destinations for dark tourism routes. The article points to the ambiguous and often contrastive attitude of the local community towards the use of these places for dark tourism purposes, which is related to the way how and whether local communities and different social groups preserve Holocaust events in their living memories. According to the author, Holocaust memorial sites can be described as the sites of selected silence, and this designation quite accurately describes how society in Latvia remembers and preserves memories of its tragic historical heritage.

Contains fulltext : 240193.pdf (Publisher’s version ) (Open Access), Many children have undetected vision problems or insufficient visual information processing that may be a factor in lower academic outcomes. The aim of this paper is to contribute to a better understanding of the importance of vision screening for school-aged children, and to investigate the possibilities of how eye-tracking (ET) technologies can support this. While there are indications that these technologies can support vision screening, a broad understanding of how to apply them and by whom, and if it is possible to utilize them at schools, is lacking. We review interdisciplinary research on performing vision investigations, and discuss current challenges for technology support. The focus is on exploring the possibilities of ET technologies to better support screening and handling of vision disorders, especially by non-vision experts. The data orginate from a literature survey of peer-reviewed journals and conference articles complemented by secondary sources, following a rapid review methodology. We highlight current trends in supportive technologies for vision screening, and identify the involved stakeholders and the research studies that discuss how to develop more supportive ET technologies for vision screening and training by non-experts

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Contains fulltext : 240193.pdf (Publisher’s version ) (Open Access), Many children have undetected vision problems or insufficient visual information processing that may be a factor in lower academic outcomes. The aim of this paper is to contribute to a better understanding of the importance of vision screening for school-aged children, and to investigate the possibilities of how eye-tracking (ET) technologies can support this. While there are indications that these technologies can support vision screening, a broad understanding of how to apply them and by whom, and if it is possible to utilize them at schools, is lacking. We review interdisciplinary research on performing vision investigations, and discuss current challenges for technology support. The focus is on exploring the possibilities of ET technologies to better support screening and handling of vision disorders, especially by non-vision experts. The data orginate from a literature survey of peer-reviewed journals and conference articles complemented by secondary sources, following a rapid review methodology. We highlight current trends in supportive technologies for vision screening, and identify the involved stakeholders and the research studies that discuss how to develop more supportive ET technologies for vision screening and training by non-experts

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)-COST action 15111-from 2016 to 2020. The main goal of the Cost Action was to assess the existing knowledge and experience on health care delivery for people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) in European countries, and to enhance coordinated research and health care provision in this field. We report our findings and make recommendations for clinical diagnosis, health services and care for people with ME/CFS in Europe, as prepared by the group of clinicians and researchers from 22 countries and 55 European health professionals and researchers, who have been informed by people with ME/CFS.

Data on migration flows suggest that young people are highly mobile. Yet, there are gaps in the evidence concerning the factors driving young people’s international migration in Latvia. Latvia is a potentially interesting case because of the high rate of migration from the country, but also because it is a complex ethnic and linguistic environment. Latvian and Russian speaking populations are shown to have diverse migration drivers, and this study addresses the differences in attitudes to studying and living abroad for adolescents at the time of school graduation. Literature suggests that Russian-speaking population have higher propensity to emigrate. We aim to contribute to the literature by exploring differences in migration intentions between Latvian and Russian speaking high school graduates.This study is based on individual-level survey data of secondary school graduates in Latvia in 2020, amidst COVID-19 pandemic. We analyse the strength of migration intentions from definitely not leaving Latvia to surely planning to emigrate. We conclude that Russian-speakers exhibit stronger intentions to emigrate compared Latvian-speaking youngsters, driven by wider networks and expected higher returns to their human capital abroad.

In Latvia, the learners of secondary school as a requirement gets acquainted with basics of research – selection of literature, data collection and processing, communication and presentation skills.The present article deals with an analysis of the themes and texts (corpus) of the research papers (RP) in Health Science worked out by the authors of the top-ranked RP presented in the Scientific Conference of High School Learners of Latvia from 2016 to 2019. A logical inductive content analysis of features specific to each RP, and sequential categorization and grouping into a higher level of components were performed. The quantitative data were processed by using AntConc, IBM SPSS Statistics 22 and Microsoft Excel software.The aim of the research was to find out the themes and content variations of RP, and the characteristics of the language – tokens, types and keywords.The results show that there is a thematic uniformity in RP. The statistical characteristics of language differ in terms of lexical diversity and the frequency of keywords and their collocations. Mostly individual keywords dominate.The results obtained can be used to develop recommendations for learners and teachers as a model for theme selection, presentation of research and criteria for evaluating RP.

Objective To evaluate the responsiveness in terms of correlation of the Hospital Universitario La Princesa Index (HUPI) comparatively to the traditional composite indices used to assess disease activity in rheumatoid arthritis (RA), and to compare the performance of HUPI-based response criteria with that of the EULAR response criteria. Methods Secondary data analysis from the following studies: ACT-RAY (clinical trial), PROAR (early RA cohort) and EMECAR (pre-biologic era long term RA cohort). Responsiveness was evaluated by: 1) comparing change from baseline (Delta) of HUPI with Delta in other scores by calculating correlation coefficients; 2) calculating standardised effect sizes. The accuracy of response by HUPI and by EULAR criteria was analyzed using linear regressions in which the dependent variable was change in global assessment by physician (Delta GDA-Phy). Results Delta HUPI correlation with change in all other indices ranged from 0.387 to 0.791); HUPI's standardized effect size was larger than those from the other indices in each database used. In ACT-RAY, depending on visit, between 65 and 80% of patients were equally classified by HUPI and EULAR response criteria. However, HUPI criteria were slightly more stringent, with higher percentage of patients classified as non-responder, especially at early visits. HUPI response criteria showed a slightly higher accuracy than EULAR response criteria when using Delta GDA-Phy as gold standard. Conclusion HUPI shows good responsiveness in terms of correlation in each studied scenario (clinical trial, early RA cohort, and established RA cohort). Response criteria by HUPI seem more stringent than EULAR's.

Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidy-linositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals. Flow cytometric analysis of blood cells and fibroblasts from the affected individuals showed decreased cell surface presence of GPI-anchored proteins. Most of the affected individuals have global developmental and/or intellectual delay, all had seizures, two had polymicrogyria, and four had a peripheral neuropathy. Eight children passed away before four years old. Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency. Most individuals tested showed elevated alkaline phosphatase, which is a characteristic of the inherited GPI deficiency but not DOORS syndrome. It is notable that two severely affected individuals showed 2-oxoglutaric aciduria, which can be seen in DOORS syndrome, suggesting that severe cases of inherited GPI deficiency and DOORS syndrome might share some molecular pathway disruptions.

Good knowledge of a foreign language is an important factor contributing to the professional recognition and career prospects. In order to improve professional foreign language competence, the study of the situation in professional foreign language teaching and learning was carried out in three business sectors: logistics, transport, service industry. The survey was carried among three target groups: employers, foreign language teachers and students. Employers were asked to name language skills which employees need most to perform work, to express an opinion on the role of employers in the English language learning process as well as to identify topics, most common words, phrases, or specific professional terms which would be important for their employees to know. Students were asked about motivation and foreign language needs, training environment and teaching methods as well as about their learning styles. Foreign language teachers' questionnaires contained the evaluation of teaching process and methods used, lessons preparation and evaluation of learning. The study results show that foreign language competences are considered by employers as one of the most important for the employees. However, the level of language competences varies according to the position and role within the company. Based on the findings, suggestions and recommendations were developed for acquiring a professional foreign language in the three business sectors.

Objective To evaluate the responsiveness in terms of correlation of the Hospital Universitario La Princesa Index (HUPI) comparatively to the traditional composite indices used to assess disease activity in rheumatoid arthritis (RA), and to compare the performance of HUPI-based response criteria with that of the EULAR response criteria. Methods Secondary data analysis from the following studies: ACT-RAY (clinical trial), PROAR (early RA cohort) and EMECAR (pre-biologic era long term RA cohort). Responsiveness was evaluated by: 1) comparing change from baseline (Delta) of HUPI with Delta in other scores by calculating correlation coefficients; 2) calculating standardised effect sizes. The accuracy of response by HUPI and by EULAR criteria was analyzed using linear regressions in which the dependent variable was change in global assessment by physician (Delta GDA-Phy). Results Delta HUPI correlation with change in all other indices ranged from 0.387 to 0.791); HUPI's standardized effect size was larger than those from the other indices in each database used. In ACT-RAY, depending on visit, between 65 and 80% of patients were equally classified by HUPI and EULAR response criteria. However, HUPI criteria were slightly more stringent, with higher percentage of patients classified as non-responder, especially at early visits. HUPI response criteria showed a slightly higher accuracy than EULAR response criteria when using Delta GDA-Phy as gold standard. Conclusion HUPI shows good responsiveness in terms of correlation in each studied scenario (clinical trial, early RA cohort, and established RA cohort). Response criteria by HUPI seem more stringent than EULAR's.

Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidy-linositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals. Flow cytometric analysis of blood cells and fibroblasts from the affected individuals showed decreased cell surface presence of GPI-anchored proteins. Most of the affected individuals have global developmental and/or intellectual delay, all had seizures, two had polymicrogyria, and four had a peripheral neuropathy. Eight children passed away before four years old. Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency. Most individuals tested showed elevated alkaline phosphatase, which is a characteristic of the inherited GPI deficiency but not DOORS syndrome. It is notable that two severely affected individuals showed 2-oxoglutaric aciduria, which can be seen in DOORS syndrome, suggesting that severe cases of inherited GPI deficiency and DOORS syndrome might share some molecular pathway disruptions.

Good knowledge of a foreign language is an important factor contributing to the professional recognition and career prospects. In order to improve professional foreign language competence, the study of the situation in professional foreign language teaching and learning was carried out in three business sectors: logistics, transport, service industry. The survey was carried among three target groups: employers, foreign language teachers and students. Employers were asked to name language skills which employees need most to perform work, to express an opinion on the role of employers in the English language learning process as well as to identify topics, most common words, phrases, or specific professional terms which would be important for their employees to know. Students were asked about motivation and foreign language needs, training environment and teaching methods as well as about their learning styles. Foreign language teachers' questionnaires contained the evaluation of teaching process and methods used, lessons preparation and evaluation of learning. The study results show that foreign language competences are considered by employers as one of the most important for the employees. However, the level of language competences varies according to the position and role within the company. Based on the findings, suggestions and recommendations were developed for acquiring a professional foreign language in the three business sectors.

The concept of “design thinking” is thought to originate at late 60’s of the last century when the first books in this regard were published. Latest in 1987, Professor P. G. Rowe, (University of Harvard) describes design thinking as a process and a method which can be used in various disciplines, including in education. Thus the field of design and architecture began; nowadays design thinking has become an effective learning strategy. The method is based on not declining anything right off the bat but rather go in-depth, test, analyze, look at things multiple (at least two) times and look at them from different angles. It is believed that each of us has design thinking, we only need to activate it, “set it free”, and the faster we do it, the better; that is exactly why design thinking should be started at an early age, during school years, not only when in college or university.Design thinking as a thought process is one of the future skills which will be needed in 21st century’s wide variety of fields – design, economics, construction, architecture, engineering, technology and, of course, in education. Different sources of literature point out a different number of designs thinking stage (thinking “steps”) count: from three to seven or eight that can be represented both as a linear process and as a single complex system in which interconnection of stages/ steps is seen. In the study course of pedagogy students of different study programs and study courses (physiotherapists, audiologists, orthotics-prosthetists, nutrition specialists, social workers) tested and evaluated some of the basic principles of design thinking, such as empathy, creativity, collaboration, responsibility and interdisciplinary approach. Also students adapted and improved pedagogical strategies for developing design thinking in the practice. Those strategies were: generation ideas, designing and presentation of possible solutions, solving problems, creation prototypes, drawing empathy maps. The

The concept of “design thinking” is thought to originate at late 60’s of the last century when the first books in this regard were published. Latest in 1987, Professor P. G. Rowe, (University of Harvard) describes design thinking as a process and a method which can be used in various disciplines, including in education. Thus the field of design and architecture began; nowadays design thinking has become an effective learning strategy. The method is based on not declining anything right off the bat but rather go in-depth, test, analyze, look at things multiple (at least two) times and look at them from different angles. It is believed that each of us has design thinking, we only need to activate it, “set it free”, and the faster we do it, the better; that is exactly why design thinking should be started at an early age, during school years, not only when in college or university.Design thinking as a thought process is one of the future skills which will be needed in 21st century’s wide variety of fields – design, economics, construction, architecture, engineering, technology and, of course, in education. Different sources of literature point out a different number of designs thinking stage (thinking “steps”) count: from three to seven or eight that can be represented both as a linear process and as a single complex system in which interconnection of stages/ steps is seen. In the study course of pedagogy students of different study programs and study courses (physiotherapists, audiologists, orthotics-prosthetists, nutrition specialists, social workers) tested and evaluated some of the basic principles of design thinking, such as empathy, creativity, collaboration, responsibility and interdisciplinary approach. Also students adapted and improved pedagogical strategies for developing design thinking in the practice. Those strategies were: generation ideas, designing and presentation of possible solutions, solving problems, creation prototypes, drawing empathy maps. The

OBJECTIVE: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. RESULTS: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic "putaminal eye" was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. INTERPRETATION: MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015.

Objective: 3-Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. Methods: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. Interpretation: MEGDHEL syndrome is a progressive deafness–dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004–1015.

Iron oxide nanoparticles are involved in several important biogeochemical processes. The interfaces between aqueous solutions and iron oxide nanoparticle surfaces are found everywhere in nature, and the chemical and microbial processes occurring at these complex interfaces control e.g. nutrient and contaminant availability and transport. Recently, it has been shown that certain ectomycorrhizal (ECM) fungi decompose dissolved organic matter (DOM) via non-enzymatic reactions involving the attack by reactive oxygen species (ROS), particularly the hydroxyl radical (•OH) generated via the Fenton reaction (Fe2+ + H2O2 → Fe3+ + •OH + OH-). Previous studies on fungal non-enzymatic DOM decomposition included soluble Fe3+ complexes that were reduced by metabolites to Fe2+ in order to initiate the Fenton reaction. However, the mechanisms of •OH formation in soil environments where solid and low-solubility iron oxide nanoparticles are the predominating iron source, are very much unknown.This thesis focused on the reactions between ferrihydrite or goethite nanoparticles and the model metabolite 2,6- dimethoxyhydroquinone (2,6-DMHQ) or DOM modified by the ECM fungus P. involutus. These reactions were studied at different experimental conditions, primarily varying pH and the O2 level. In order to accomplish the set aims, this PhD project included batch experiments combined with conventional wet-chemical analyses as well as the Simultaneous Infrared and Potentiometric Titration (SIPT) method to monitor the reactions at the water-mineral interfaces in real-time.The overall results showed that iron oxide nanoparticles were reductively dissolved by 2,6-DMHQ at pH 4.0 and 4.5. Under aerobic conditions these reactions produced both Fenton reagents and •OH was generated. The extent of •OH generation was sensitive to the reduction potential (EH) of the iron oxide, the O2 concentration and the competitive adsorption of organic and inorganic anions. The reactions between 2,6-DMHQ and the ir

Pedagogical competence is an important integral component of health psychologist competence. The development of this component is implemented during two study courses in the Riga Stradiņš University, providing possibility for master programme „Health psychology” students to elaborate and pilot informal educational programs, trying to select and structure health psychology materials in accordance with the principles and requirements of pedagogy. The article analyze and evaluate the development of some transversal competencies and future skills of health psychologist’ during the practice, as well as to work out the recommendations for optimal practice organization in a professional environment. The article, based on students’ survey and results of the students’ developed informal educational programs analysis, show the process and the issues, which are important for educational programs elaboration and pedagogical competence development.

Contains fulltext : 155252.pdf (publisher's version ) (Closed access), Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.

Contains fulltext : 155252.pdf (publisher's version ) (Closed access), Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.

Contains fulltext : 155252.pdf (publisher's version ) (Closed access), Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.

Item does not contain fulltext, Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Cornelia de Lange syndrome (CdLS) is amultisystemgenetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ̃5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA.Wealso identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS. © The Author 2014. Published by Oxford University Press. All rights reserved.Published by Oxford University Press. All rights reserved.

The aims of this study were to investigate the effects of Sr- and Mn-doped ions on the sintering behaviors, microstructure and mechanical properties of the bioceramics processed by single- and two-step microwave sintering (MWSSS and MWTSS). Nano-sized calcium hydroxyapatite powders doped with Sr and Mn ions, obtained by modified precipitation synthesis, were isostatically pressed at 400 MPa and processed by MWSSS and MWTSS at different temperatures. In all cases during the sintering, the doped HAP powders turned into biphasic mixtures of HAP and TCP, but the amount of TCP was certainly lower in the case of MWTSS. It was shown that the doped ions significantly affected: density, microstructure, grain size, porosity, hardness, and fracture toughness of the processed bioceramics. Two-step microwave sintering was successfully applied for the processing of HAP/TCP bioceramics doped with strontium and manganese ions. Both two-step microwave sintered doped bioceramics had similar and high hardness values, but the strontium-substituted bioceramic material certainly had higher fracture toughness (1.54 MPam(1/2)), with an average grain size of 195 nm. Based on the results presented in this paper, it was concluded that the two-step microwave sintered strontium-doped bioceramics could be suitable materials in the bone regenerative field.

Item does not contain fulltext, Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Contains fulltext : 137378.pdf (Publisher’s version ) (Open Access), Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for approximately 5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.

The aims of this study were to investigate the effects of Sr- and Mn-doped ions on the sintering behaviors, microstructure and mechanical properties of the bioceramics processed by single- and two-step microwave sintering (MWSSS and MWTSS). Nano-sized calcium hydroxyapatite powders doped with Sr and Mn ions, obtained by modified precipitation synthesis, were isostatically pressed at 400 MPa and processed by MWSSS and MWTSS at different temperatures. In all cases during the sintering, the doped HAP powders turned into biphasic mixtures of HAP and TCP, but the amount of TCP was certainly lower in the case of MWTSS. It was shown that the doped ions significantly affected: density, microstructure, grain size, porosity, hardness, and fracture toughness of the processed bioceramics. Two-step microwave sintering was successfully applied for the processing of HAP/TCP bioceramics doped with strontium and manganese ions. Both two-step microwave sintered doped bioceramics had similar and high hardness values, but the strontium-substituted bioceramic material certainly had higher fracture toughness (1.54 MPam(1/2)), with an average grain size of 195 nm. Based on the results presented in this paper, it was concluded that the two-step microwave sintered strontium-doped bioceramics could be suitable materials in the bone regenerative field.

The aims of this study were to investigate the effects of Sr- and Mn-doped ions on the sintering behaviors, microstructure and mechanical properties of the bioceramics processed by single- and two-step microwave sintering (MWSSS and MWTSS). Nano-sized calcium hydroxyapatite powders doped with Sr and Mn ions, obtained by modified precipitation synthesis, were isostatically pressed at 400 MPa and processed by MWSSS and MWTSS at different temperatures. In all cases during the sintering, the doped HAP powders turned into biphasic mixtures of HAP and TCP, but the amount of TCP was certainly lower in the case of MWTSS. It was shown that the doped ions significantly affected: density, microstructure, grain size, porosity, hardness, and fracture toughness of the processed bioceramics. Two-step microwave sintering was successfully applied for the processing of HAP/TCP bioceramics doped with strontium and manganese ions. Both two-step microwave sintered doped bioceramics had similar and high hardness values, but the strontium-substituted bioceramic material certainly had higher fracture toughness (1.54 MPam(1/2)), with an average grain size of 195 nm. Based on the results presented in this paper, it was concluded that the two-step microwave sintered strontium-doped bioceramics could be suitable materials in the bone regenerative field.

Environmental problems are outstanding both in Latvia and in the World = Экологические проблемы являются актуальными, как в Латвии, так и в мире.

01 juli 2012, Contains fulltext : 108785.pdf (publisher's version ) (Closed access), Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. We localized SERAC1 at the interface between the mitochondria and the endoplasmic reticulum in the mitochondria-associated membrane fraction that is essential for phospholipid exchange. A phospholipid analysis in patient fibroblasts showed elevated concentrations of phosphatidylglycerol-34:1 (where the species nomenclature denotes the number of carbon atoms in the two acyl chains:number of double bonds in the two acyl groups) and decreased concentrations of phosphatidylglycerol-36:1 species, resulting in an altered cardiolipin subspecies composition. We also detected low concentrations of bis(monoacyl-glycerol)-phosphate, leading to the accumulation of free cholesterol, as shown by abnormal filipin staining. Complementation of patient fibroblasts with wild-type human SERAC1 by lentiviral infection led to a decrease and partial normalization of the mean ratio of phosphatidylglycerol-34:1 to phosphatidylglycerol-36:1. Our data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking.

01 juli 2012, Contains fulltext : 108785.pdf (publisher's version ) (Closed access), Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. We localized SERAC1 at the interface between the mitochondria and the endoplasmic reticulum in the mitochondria-associated membrane fraction that is essential for phospholipid exchange. A phospholipid analysis in patient fibroblasts showed elevated concentrations of phosphatidylglycerol-34:1 (where the species nomenclature denotes the number of carbon atoms in the two acyl chains:number of double bonds in the two acyl groups) and decreased concentrations of phosphatidylglycerol-36:1 species, resulting in an altered cardiolipin subspecies composition. We also detected low concentrations of bis(monoacyl-glycerol)-phosphate, leading to the accumulation of free cholesterol, as shown by abnormal filipin staining. Complementation of patient fibroblasts with wild-type human SERAC1 by lentiviral infection led to a decrease and partial normalization of the mean ratio of phosphatidylglycerol-34:1 to phosphatidylglycerol-36:1. Our data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking.

Isolated cleft lip and/or palate (CL/CLP) is a complex congenital anomaly with many contributing factors. There are several genes involved in the aetiology of CL/CLP, they are different in selected populations. In a previous study, the mitochondrial haplotypes of Latvian subjects with CL/CLP were characterized. Latvian subjects with CL/CLP have mostly mitochondrial haplogroups U4/U5 compared with the ethnic population of Latvia. The aim of this study was to stratify the results of genotyping based on European mitochondrial DNA (mtDNA) haplotypes. DNA samples from 108 patients with CL/CLP and from 182 unrelated and unaffected individuals selected randomly in Latvia (used as controls) were obtained for investigation. In this study, we analysed the data taking into consideration mitochondrial haplogroups and found that gene associations depended on the genetic origin of the population. The phenotype of patients with non-U haplotypes was associated with markers in wingless-type MMTV integration site family, member 3 (WNT3), collagen, type XI, alpha 2 (COL11A2), and fibroblast growth factor receptor 1 (FGFR1), whereas patients with U4 and U5 haplotypes showed significant association with WNT3 and COL11A2. It is unlikely that mtDNA variants play a direct role in the development of CL/CLP; rather, they may be a surrogate for population substructure and provide a tool to increase homogeneity and statistical power. © 2011 Eur J Oral Sci.

Latvia has one of the highest prevalence of isolated cleft lip with or without cleft palate (CL/P) in Europe. To clarify the genetic origins of the Latvian cleft population and establish a method for genetic mapping, mitochondrial DNA variation was studied in a population affected with clefting. One-hundred and seven subjects and 351 samples from unrelated healthy volunteers representing four anthropologically, archaeologically and ethno-linguistically different regions of Latvia were selected. The case group showed a higher frequency of haplogroups U4 (p = 0.02) and U5 (p = 0.0003) than in non-U haplogroups. We hypothesize that U4 and U5 mtDNA haplotype carriers may also carry susceptibility genes for clefts. Future studies will take into consideration these definitions based on mtDNA haplotypes when analyzing genetic variations and their possible contribution to CL/P susceptibility. © 2010.

Latvia has one of the highest prevalence of isolated cleft lip with or without cleft palate (CL/P) in Europe. To clarify the genetic origins of the Latvian cleft population and establish a method for genetic mapping, mitochondrial DNA variation was studied in a population affected with clefting. One-hundred and seven subjects and 351 samples from unrelated healthy volunteers representing four anthropologically, archaeologically and ethno-linguistically different regions of Latvia were selected. The case group showed a higher frequency of haplogroups U4 (p = 0.02) and U5 (p = 0.0003) than in non-U haplogroups. We hypothesize that U4 and U5 mtDNA haplotype carriers may also carry susceptibility genes for clefts. Future studies will take into consideration these definitions based on mtDNA haplotypes when analyzing genetic variations and their possible contribution to CL/P susceptibility. © 2010.

Isolated cleft lip and/or palate (CL/CLP) is a complex congenital anomaly with many contributing factors. There are several genes involved in the aetiology of CL/CLP, they are different in selected populations. In a previous study, the mitochondrial haplotypes of Latvian subjects with CL/CLP were characterized. Latvian subjects with CL/CLP have mostly mitochondrial haplogroups U4/U5 compared with the ethnic population of Latvia. The aim of this study was to stratify the results of genotyping based on European mitochondrial DNA (mtDNA) haplotypes. DNA samples from 108 patients with CL/CLP and from 182 unrelated and unaffected individuals selected randomly in Latvia (used as controls) were obtained for investigation. In this study, we analysed the data taking into consideration mitochondrial haplogroups and found that gene associations depended on the genetic origin of the population. The phenotype of patients with non-U haplotypes was associated with markers in wingless-type MMTV integration site family, member 3 (WNT3), collagen, type XI, alpha 2 (COL11A2), and fibroblast growth factor receptor 1 (FGFR1), whereas patients with U4 and U5 haplotypes showed significant association with WNT3 and COL11A2. It is unlikely that mtDNA variants play a direct role in the development of CL/CLP; rather, they may be a surrogate for population substructure and provide a tool to increase homogeneity and statistical power. © 2011 Eur J Oral Sci.