Traditional practices and perceptions of epilepsy among people in Roma communities in Bulgaria

PURPOSE: We attempted to identify cultural aspects of epilepsy among the Roma community in Bulgaria by elucidating cultural beliefs, traditional treatments, and potential markers of stigma. METHODS: We established representative discussion groups among five distinct Roma subgroups (Lom, Kalderas, Thracian Tinsmiths (Tinkers), Kyustendil Xoroxane and Kopanari) from different Bulgarian regions. Data about local beliefs and treatment strategies were gathered. RESULTS: Most people were familiar with convulsions but non-convulsive focal seizures were seen not as epileptic but mainly as a "mental problem". Beliefs about putative etiologies for epilepsy were not uniform as some considered environmental and external factors such as high environmental temperatures, electric shocks, loud music, and fever as causes of seizures while others listed bad experiences, stress, trauma, and fear as possible causes. Epilepsy was seen by some as a divine punishment or resulting from black magic. Most considered epilepsy shameful and an obstacle to children attending school. Despite local differences, there was a uniform belief that epilepsy is incurable by Western medicine and people usually resort to traditional healers. A variety of rituals performed by local healers to treat epilepsy were described. DISCUSSION: Misconceptions about epilepsy may contribute to stigmatization in this population; this may in turn contribute to a high treatment gap in this group. As a result, the majority of Roma children with epilepsy are likely to leave school early, are greatly limited in their choice of spouse (particularly girls), and marriages often occur between people with epilepsy or those with a family history of epilepsy

Genetic-parameter estimation of milk yield in White Maritza sheep breed using different test day models

The aims of this study were to estimate the genetic parameters of the test day milk yield (TDMY) of the White Maritza sheep breed population and to choose the most appropriate linear models for genetic-parameter estimation of test day milk yield. The White Maritza sheep breed is a multipurpose native sheep breed in Bulgaria. Test day milk yield data were collected from 1992 to 2015 (24 years). Milk yield recordings were made in 18 flocks according to the AC method (official milk recording by ICAR regulations). The database includes 8768 test day milk yield records belonging to 987 ewes. The pedigree file includes 1937 animals. Nine test day models (TDMs) were formulated and tested for the estimation of the genetic parameters of milk yield. The first three models were repeatability models (REP models), the second three were random regression models (RRMs), and the last three models were also random regression models with an added Ali and Schaeffer regression to describe the lactation curve using first-, second- and third-order polynomials. The average TDMY was 764.47 mL. There were no significant differences in the values of heritability (h2) calculated by the three REP models: REP1 0.355 ± 0.060, REP2 0.344 ± 0.047 and REP3 0.347 ± 0.060. The same applied to the repeatability coefficients, which, for the three REP models, were 0.384 ± 0.065, 0.376 ± 0.051 and 0.378 ± 0.065, respectively. Based on REP model 1, three models with random regression RRM1, RRM2 and RRM3 were constructed, which is associated with the use of first-, second- and third-order polynomials (for the random effects of both the animal and the permanent environment). The trajectories of h2 calculated by the three RRMs were not similar and demonstrated some differences, both at the beginning and in the middle of the milking period. The RRM with third-order polynomials demonstrated more genetic diversity until the 165th day of lactation, but Akaike information criterion (AIC), Bayesian information criterion (BIC) and log-likelihood (LogL) estimates were higher. The regression models with first- and second-degree polynomials were insufficient to reveal genetic diversity to a higher degree than REP model 1. The trend in the trajectories of h2 calculated by the three random regression models with Ali and Schaeffer regression models (ASRMs) was similar to that of random regression models without the Ali and Schaeffer regression incorporated. Although the noted advantages of the random regression models revealed, to a greater extent, the genetic diversity of test day milk yield, AIC, BIC and LogL estimates indicated that repeatability models achieved a better balance between complexity and fitness and a smaller prediction error compared to random regression models.</p

REVIEW OF THE CURRENT STATUS AND FUTURE PERSPECTIVES ON PSEUDOGYMNOASCUS DESTRUCTANS STUDIES WITH REFERENCE TO SPECIES FINDINGS IN BULGARIA

Emerging infectious diseases are a well-known threat to the wildlife and require complex research. There is a rapidly accumulating knowledge on the infectious disease of bats, named firstly White Nose Syndrome (WNS) and afterwards – White Nose Disease (WND), and its causative agent – the pathogenic fungus Pseudogymnoascus destructans. Although mass mortality of bats, known since a decade, is currently restricted to North America, the pathogen is of global concern as a potential threat to other hibernating bat populations. Therefore five years after the first comprehensive synthesis on the fungal ecology and relevant knowledge gaps (FOLEY ET AL. 2011), we decided to summarize the published information on the pathogen morphology, reproduction, ecological requirements, geographic distribution and systematic position. In addition, the present review compiles the available data on the affected bat species, mechanisms of WND, on the host response and on the effective treatment strategies with possible methods for fighting the pathogen to reduce the mortality in affected regions as well. Special attention is paid to the finding of the fungus in Bulgarian caves

PHARMACOGENETIC STUDY OF THE ACETYLATION PHENOTYPE IN A BULGARIAN POPULATION

N-acetyltransferase, an enzyme involved in the metabolic inactivation of drugs like isoniazide, some sulfonamides and others is well-known to he under polymorphic genetic control. The acetylation phenotype of the patients may serve as an important guide in foretelling the therapeutic efficacy or tolerahility of a particular drug. In the present study we investigated the distribution of the acetylaiion phenotypes in a group of 100 healthy volunteers of both sexes using sulfadimidine as a substrate. The distribution was found to follow a bimodal pattern, as aspected, with a slight predominance of the "slow" acetylators - in 58 % of the cases, a finding similar to literature data from neighbouring and other European countries. In the men's group the distribution was approximately the same as that in the whole group whilst in the women's one the "rapid" inactivators prevailed. This work represents the first modest attempt in Bulgaria for phenotyping the population according to the individual acetylaiion status

Agriculture shapes the trophic niche of a bat preying on multiple pest arthropods across Europe: Evidence from DNA metabarcoding

The interaction between agricultural production and wildlife can shape, and even condition, the functioning of both systems. In this study, we i) explored the degree to which a widespread European bat, namely the common bent-wing bat Miniopterus schreibersii, consumes crop-damaging insects at a continental scale, and ii) tested whether its dietary niche is shaped by the extension and type of agricultural fields. We employed a dual-primer DNA metabarcoding approach to characterize arthropod 16S and COI DNA sequences within bat faecal pellets collected across 16 Southern European localities, to first characterize the bat species’ dietary niche, second measure the incidence of agricultural pests across their ranges and third assess whether geographical dietary variation responds to climatic, landscape diversity, agriculture type and vegetation productivity factors. We detected 12 arthropod orders, among which lepidopterans were predominant. We identified >200 species, 44 of which are known to cause agricultural damage. Pest species were detected at all but one sampling site and in 94% of the analysed samples. Furthermore, the dietary diversity of M. schreibersii exhibited a negative linear relation with the area of intensive agricultural fields, thus suggesting crops restrict the dietary niche of bats to prey taxa associated with agricultural production within their foraging range. Overall, our results imply that M. schreibersii might be a valuable asset for biological pest suppression in a variety of agricultural productions and highlight the dynamic interplay between wildlife and agricultural systems.We thank the staff at the Danish National High-Throughput DNASequencing Centre for generating the sequencing data. Furthermore,we thank Kristine Bohmann and the three anonymous reviewers foredits and comments on the manuscript. AA was supported by The Danish Council for Independent Research (5051-00033), and OAwas supported by the Carlsberg Foundation’s Distinguished Postdoc-toral Fellowship (CF15-0619). SG was supported by a Marie Skło-dowska-Curie Individual Fellowship (655732)Peer reviewe

Mosaic Amplification of Multiple Receptor Tyrosine Kinase Genes in Glioblastoma

SummaryTumor heterogeneity has been implicated in tumor growth and progression as well as resistance to therapy. We present an example of genetic heterogeneity in human malignant brain tumors in which multiple closely related driver genes are amplified and activated simultaneously in adjacent intermingled cells. We have observed up to three different receptor tyrosine kinases (EGFR, MET, PDGFRA) amplified in single tumors in different cells in a mutually exclusive fashion. Each subpopulation was actively dividing, and the genetic changes resulted in protein production, and coexisting subpopulations shared common early genetic mutations indicating their derivation from a single precursor cell. The stable coexistence of different clones within the same tumor will have important clinical implications for tumor resistance to targeted therapies

Dietary habits, traveling and the living situation potentially influence the susceptibility to SARS-CoV-2 infection: results from healthcare workers participating in the RisCoin Study.

PURPOSE To explore occupational and non-occupational risk and protective factors for the coronavirus disease 2019 (COVID-19) in healthcare workers (HCWs). METHODS Serum specimens and questionnaire data were obtained between October 7 and December 16, 2021 from COVID-19-vaccinated HCWs at a quaternary care hospital in Munich, Germany, and were analyzed in the RisCoin Study. RESULTS Of 3,696 participants evaluated, 6.6% have had COVID-19 at least once. Multivariate logistic regression analysis identified working in patient care occupations (7.3% had COVID-19, 95% CI 6.4-8.3, Pr = 0.0002), especially as nurses, to be a potential occupation-related COVID-19 risk factor. Non-occupational factors significantly associated with high rates of the disease were contacts to COVID-19 cases in the community (12.8% had COVID-19, 95% CI 10.3-15.8, Pr < 0.0001), being obese (9.9% had COVID-19, 95% CI 7.1-13.5, Pr = 0.0014), and frequent traveling abroad (9.4% had COVID-19, 95% CI 7.1-12.3, Pr = 0.0088). On the contrary, receiving the basic COVID-19 immunization early during the pandemic (5.9% had COVID-19, 95% CI 5.1-6.8, Pr < 0.0001), regular smoking (3.6% had COVID-19, 95% CI 2.1-6.0, Pr = 0.0088), living with the elderly (3.0% had COVID-19, 95% CI 1.0-8.0, Pr = 0.0475), and frequent consumption of ready-to-eat meals (2.6% had COVID-19, 95% CI 1.1-5.4, Pr = 0.0045) were non-occupational factors potentially protecting study participants against COVID-19. CONCLUSION The newly discovered associations between the living situation, traveling as well as dietary habits and altered COVID-19 risk can potentially help refine containment measures and, furthermore, contribute to new mechanistic insights that may aid the protection of risk groups and vulnerable individuals

Small RNA Profile in Moso Bamboo Root and Leaf Obtained by High Definition Adapters

Moso bamboo (Phyllostachy heterocycla cv. pubescens L.) is an economically important fast-growing tree. In order to gain better understanding of gene expression regulation in this important species we used next generation sequencing to profile small RNAs in leaf and roots of young seedlings. Since standard kits to produce cDNA of small RNAs are biased for certain small RNAs, we used High Definition adapters that reduce ligation bias. We identified and experimentally validated five new microRNAs and a few other small non-coding RNAs that were not microRNAs. The biological implication of microRNA expression levels and targets of microRNAs are discussed