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Background: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease with neurodevelopmental delay, motor, and speech regression, pronounced extrapyramidal syndrome, and sensory deficits due to TUBB4A mutation. In 2017, a severe variant was described in 16 Roma infants due to mutation in UFM1. Objective: The objective of this study is to expand the clinical manifestations of H-ABC due to UFM1 mutation and suggest clues for clinical diagnosis. Methodology: Retrospective analysis of all 9 cases with H-ABC due to c.-273_-271delTCA mutation in UFM1 treated during 2013-2020 in a Neuropediatric Ward in Plovdiv, Bulgaria. Results: Presentation is no later than 2 months with inspiratory stridor, impaired sucking, swallowing, vision and hearing, and reduced active movements. By the age of 10 months, a monomorphic disease was observed: microcephaly (6/9), malnutrition (5/9), muscle hypertonia (9/9) and axial hypotonia (4/9), progressing to opisthotonus (6/9), dystonic posturing (5/9), nystagmoid ocular movements (6/9), epileptic seizures (4/9), non-epileptic spells (3/9). Dysphagia (7/9), inspiratory stridor (9/9), dyspnea (5/9), bradypnea (5/9), apnea (2/9) were major signs. Vision and hearing were never achieved or lost by 4-8 mo. Neurodevelopment was absent or minimal with subsequent regression after 2-5 mo. Brain imaging revealed cortical atrophy (7/9), atrophic ventricular dilatation (4/9), macrocisterna magna (5/9), reduced myelination (6/6), corpus callosum atrophy (3/6) and abnormal putamen and caput nuclei caudati. The age at death was between 8 and 18 mo. Conclusion: Roma patients with severe encephalopathy in early infancy with stridor, opisthotonus, bradypnea, severe hearing and visual impairment should be tested for the Roma founder mutation of H-ABC in UFM1.

This article examines the portrayal of women in Hindi drama. In the following, we will examine the cultural segments that have influenced the development of the dramatic genre of Hindi. We will analyze Hindu images of the feminine according to three mythical figures. We propose to understand the interpretation of the feminine through these three mythical figures of great importance in the Hindu tradition. In support of our theoretical discussion, we have chosen to focus on the dramas of three representative playwrights, Bharatendu Harishcandra, Jayshankar Prasad and Jagdishcandra Mathur. We will deal with the ways Hindu images of the feminine have been reinterpreted in Hindi theater of pre-independence India. By means of a thematic analysis and ideological criticism, we aim to understand how Hindu myths have been used in order to affirm or contest Hindu female models of the submissive woman or the independent woman.

Mass media and social networking are fast-developing forms of communication in our world and in education in particular. Their language is attractive and comprehensible for everyone. Through them some phenomena which deviate from the literary norm can be observed in speech. Over time speakers stop looking at them as a deviation in their language behaviour. Such mistakes are usually considered as manifestation of low education or as insufficient knowledge of the literary norm. The article shows an experiment where the found deviations are turning into an interesting "game" at school which helps creating attitudes and gaining experience

Transfer pricing raises a number of issues and challenges for companies operating transfer operations and for the tax administrations of the countries in which they operate. Along with the increasing role of international transfer pricing on a global scale, increasing attention is paid to possible improvements in the control in this area and improving the regulatory measures in the individual countries aimed at limiting and countering the attempts at manipulation by companies in order to reduce paid profit taxes, customs duties, etc. through the transfer pricing. In modern conditions of continuously increasing globalization, more and more perceivable is the need for application of uniform, internationally recognized requirements and rules to documentation and control of transfer prices. The main purpose of this scientific paper is to examine the major rules and requirements related to the preparation of standardized transfer pricing documentation in the Republic of Bulgaria in the contemporary conditions. It discusses the increasing role and significance of international transfer pricing in the context of globalization and the necessity for application of uniform international guidelines on transfer pricing. A special attention is paid to the systematization of significant advantages and benefits of the application of standardized, globally recognized requirements in the field of transfer pricing in the Republic of Bulgaria both for companies -taxpayers and for tax administrations. The methodology of research of the issues in the paper involves the application of the historical-logical and systematic approaches and the methods of observation, comparison, analogy, analysis and synthesis, induction and deduction, etc. In accordance with the systematic approach, the information for transfer pricing of the different constituent entities of the multinational groups is considered as an integral part of the information for transfer pricing of the group as a whole. As a result of the research made, it is concluded that the implementation of the standardized rules for documentation that multinational groups must prepare in order to justify the methodology for determining transfer prices used in their international intra-group transactions provides valuable advantages and benefits both for the tax administrations of the relevant countries and for the taxpayers. From the perspective of tax authorities, the adoption of standardized requirements achieves improvement of the methodology of transfer pricing and tax audit in this area, higher degree of reliability, comparability and transparency of information provided by taxpayers for control over transactions between related parties. Through these requirements are achieved also better results in the tax discipline, the prevention of tax evasion and effective tools for avoidance and resolution of transfer pricing disputes. From the position of the taxpayers it is of utmost importance that through the uniform, internationally recognized requirements for documentation and tax audit of transfer prices the burden and costs in preparing the documentation on pricing in international transactions between related parties are significantly reduced. The introduction of these rules creates clarity and predictability with regard to information required to prove that their transactions with related parties satisfy the arm’s length principle. The standardized documentation enables taxpayers to defend their tax position, provides guarantees for the tax treatment of the transactions between related parties, possibilities for advance compliance with the requirements and hence for avoidance of penalties and transfer pricing disputes with tax administrations.

Chapter 4 deals with the representation of cultural identity and gender in the period 1880–1940 and discusses the work of several representative playwrights of the time.

Chapter 6 summarizes the inferences of this study, and reflects on the interface of identity, culture, nation, and gender in Hindi drama. It concludes that there are multiple ways of looking at these important questions, as different authors present different interpretations, thus reflecting the plurality and complexity of Hindi literary and cultural traditions. It also revisits the postcolonial contentions voiced in the works of several Indian intellectuals, and the striking absences of women in the national and cultural narratives that they present. While some critics send to the inner sphere and leave them there, other thinkers do not even mention women. Similarly, in their studies, there is no place for Dalits or Dalit women or other communities, disadvantaged because of caste, gender, or ethnicity. It is therefore important to underline the great importance of the seven playwrights studied in my book, whose works deal with questions related to women’s education and agency centre-stage. Many of the playwrights discussed are feminists and modernists who open up new interpretative venues and theatrical modes of expression in order to express a pluralistic and inclusive narrative of cultural identity.

This book deals with the interface between identity, culture, and literature. It aims at studying questions of cultural identity and gender in Hindi plays of the 19th and 20th centuries and the interplay of poetics and politics, as revealed in the work of several influential playwrights. The book explores questions related to the ways in which seven representative playwrights imagine India and its identity and the ways, in which this concept is revealed in the ‘narratives of the nation’, its postcolonial contentions, and the politics of identity, as revealed in the production of various cultural discourses. The chapters explore various aspects of the ongoing process of constructing and narrating culture, gender, the nation, and identity. There has been no monograph on the questions of cultural identity in Hindi drama. This is a pioneering project and a desideratum in the field of Hindi literature, South Asian Studies, and broadly, in the study of theatre of India and of South Asian cultures and literatures.

Chapter 3 inquires into the history of Hindi drama and discusses major tendencies and schools. It also looks at the plurality of cultural traditions, identities, and influences that have shaped the playwrights’ worldviews throughout the centuries. Thus, we can identify influences from Western dramaturgy, from classical Urdu drama, from the Parsi theatre, from indigenous sources, such as the nauṭaṅkī-play, as well as classical Sanskrit drama. While the diversity and plurality of the dramatic and theatrical traditions should not be overlooked, Hindi theatre has come to be seen as a sort of a national theatre because of the status of Hindi as the national language of India, as most plays written in regional languages are staged in Hindi before they are staged in the original language. Therefore, in this chapter, Hindi theatre has been discussed as representative of developments in Indian theatre..

Chapter 1 constitutes the introduction and states the research question, the main themes that the book discusses the aims, and the methodology. It introduces the main topics of the following chapters. While Chapter 2 deals with issues of cultural identity, several Hindu discourses of cultural identity, and questions of myth and gender, Chapter 3 studies the history of Hindi drama and the literary biography of seven representative playwrights. Chapters 4 and 5 present an in-depth analysis of selected works of the playwrights, and Chapter 6 represents the conclusion.

This paper examines some current issues related to the boundary between the institutes of rest and working hours in a digital environment. The focus is on some contemporary aspects of these concepts, conditioned by the digi-tal environment for labor performance. Through a legal analysis of the appli-cable national labor law in Bulgaria and reference to ongoing processes at European level and the relevant legal acts the authors seek to conclude on some ongoing transformations. Some summaries and concrete proposals for improvement of the regulation are formulated in the paper’s conclusion.

The Covid 19 pandemic has changed all spheres of both private and public life. It has not spared education either. Varna Medical University quickly reorganised and mobilised new technological and human resources. The present survey examines how online teaching during pandemic affects students’ motivation to study and learn. The theoretical formulation is based on the idea of the students’ social learning and typologization, depending on their expectations of the training process. An inquiry card was set up, and a survey of forty nurse and midwifery students at the Veliko Tarnovo Subsidiary of Varna Medical University was conducted. The snapshot reveals that online training is a challenge to the students and requires a new attitude and skills to structure time.

Cet article s’intéresse à la notion d’identité culturelle ainsi qu’à l’imaginaire hindou et à son influence sur la création du canon du théâtre hindi moderne. Pour ce faire, nous examinerons les segments culturels qui ont influencé le développement du genre dramatique en langue hindie. Les implications idéologiques de la construction de la tradition du théâtre hindi en tant que forme néo-sanskritique, niant les influences occidentales et islamiques, seront également discutées. Bien que la « redécouverte », après les années 1960, des traditions théâtrales folkloriques/indigènes/ deśī ait été fort importante, nous avançons qu’elle n’a pas été suffisante pour relancer et arrêter la disparition du théâtre hindi moderne puisque ces traditions n’ont pu représenter l’identité culturelle indienne. Nous proposons de comprendre l’identité culturelle indienne comme une catégorie pluraliste, qui est informée par de multiples segments culturels, comme les traditions occidentale et brahmanique, les traditions littéraires islamiques et indigènes. Par conséquent, il s’ensuit que toutes les écoles du théâtre hindi – néosanskritique, naturaliste et nativiste – représentent l’identité culturelle indienne et devraient faire partie du canon littéraire hindi.

Introduction: Blood-induced joint damage as a hallmark of haemophilia continues to occur despite the widespread prophylaxis. Pre-cise assessment and follow-up of joint status are crucial for tailoring their treatment. Aim: To study the correlation between the bleeding phenotype, the functional joint status, and the magnetic resonance imaging score in pediatric patients with haemophilia. Materials and methods: Eighty-six joints (ankles, knees, and elbows) in patients aged 10.7±0.5 (range 4 - 20) years with severe/moderate haemophilia A, severe haemophilia B and haemophilia A with inhibitors were included in the study. The joints were assessed by Haemophilia Joint Health Score 2.1 (HJHS2.1) one month after the last hemarthrosis in a non-bleeding state. The magnetic reso-nance imaging was performed on 40 (46.5%) of the examined hemophilic joints (16 ankles, 11 knees and 13 elbows). Results: Joint bleeds were present in 37 (38.9%) of the joints with ankles being the most commonly affected. Sixty joints (69.8%) had normal HJHS2.1 score. Only the loss of flexion score differed significantly between the joints and the ankles had highest score. The cumulative number of hemarthrosis in the joint correlated moderately with hemosiderin deposition and strongly with the formation of subchondral cysts on magnetic resonance imaging. The magnetic resonance imaging scores for soft tissue and osteochondral domains correlated moderately with the cumulative number of hemarthrosis in the joint and only with the presence of pain and crepitus of mo-tion from the physical examination. Conclusions: Magnetic resonance imaging is more sensitive than the bleeding phenotype and physical examination in detecting early signs of haemophilic arthropathy.

ObjectiveTo evaluate whether eculizumab helps patients with anti–acetylcholine receptor–positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension.MethodsPatients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study.ResultsA total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1–4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected.ConclusionEculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population.ClinicalTrials.gov IdentifierREGAIN, NCT01997229; REGAIN open-label extension, NCT02301624.Classification of EvidenceThis study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo.

ObjectiveTo report our experience with adult patients with spinal muscular atrophy (SMA), some of whom were treated with nusinersen.MethodsWe reviewed charts of adult patients with SMA seen in our neuromuscular clinic between 2017 and 2019 and noted their demographics, clinical characteristics, treatment, and side effects.ResultsTwenty-two patients were included. Nine had type 2 and 13 type 3 SMA. Median age was 36 years (range 20–71). Most could not walk unassisted. Ten patients had significant respiratory impairment necessitating ventilation and 2 had tracheostomy. Seventeen had severe scoliosis. Ten patients were treated with nusinersen for 6–24 months (median 12 months), 3 of whom required bone laminectomy for intrathecal access. One developed bowel and bladder incontinence following the procedure. In the treated group, on average, % Medical Research Council change was 2.5% at 12 months and 3.9% at 24 months. Most untreated patients remained stable; 3 had slightly declined. Five treated patients reported subjective improvement. Treatment side effects included post lumbar puncture headache in 5 patients, 2 of whom needed blood patch, and 1 bacterial meningitis requiring inpatient treatment. Three patients stopped treatment after 12–24 months due to lack of improvement, recurrent pneumonia, or proteinuria.ConclusionSide effects of nusinersen can be serious. Whereas half of treated patients reported modest improvement in function, there were no significant objective changes, which may point largely to a placebo effect.Classification of evidenceThis study provides Class IV evidence that for some adult patients with SMA, nusinersen improves subjective function and causes serious adverse effects.

Patients with hereditary transthyretin (TTR) amyloidosis (hATTR) often experience disease progression after orthotopic liver transplant (POLT) due in part to wild type ATTR amyloid deposition. The management strategy is not defined. We propose that TTR gene silencing with an antisense oligonucleotide or a small interfering ribonucleic acid may be a treatment for these patients.We reviewed the charts of hATTR patients POLT treated with a TTR gene silencing agent at 7 different Amyloid Clinics between 2018-2020.Nine hATTR patients with POLT were treated with TTR gene silencing therapy (Inotersen). The median age was 61 years. The median time from OLT to initiation of TTR gene silencing therapy was 7.5 years. The median duration of therapy was 12 months. Neuropathy impairment score remained stable or improved in all patients. Five patients stopped treatment: 3 because of thrombocytopenia, 2 because of reversible liver rejection. Three patients who discontinued treatment subsequently experienced worsening of their neuropathy.TTR gene silencing therapy in hATTR patients with POLT could be a treatment option. Vigilant monitoring of renal, liver and bone marrow functions is necessary because of frequent complications. Further studies are needed to determine efficacy.

The paper aims to identify key aspects of the essence of eHealth (digital hospitals, clinical information systems, computerized medical records, telemedicine) as a priority European policy and how it is reflected in the national legislation of Bulgaria. In this sense, the aim of the study is first to highlight the typical European trends in the development of eHealth through continuous and well-established processes of application of digital technology to healthcare and their incorporation into the Community policies as a legal framework, and second to analyze national processes and stages of digitalization of healthcare and the health insurance system in terms of the creation of functioning and adequate eHealth. Based on the analysis performed, the authors have drawn conclusions about trends in and legal effects of the regulatory framework related to the efficiency of healthcare and the effective management of the health insurance systems.

On 16 July 2020, the Court of Justice of the European Union issued their decision in the Schrems II case concerning Facebook’s transfers of personal data from the EU to the US. The decision may have significant effects on the legitimate transfer of personal data for health research purposes from the EU. This article aims: (i) to outline the consequences of the Schrems II decision for the sharing of personal data for health research between the EU and third countries, particularly in the context of the COVID-19 pandemic; and, (ii) to consider certain options available to address the consequences of the decision and to facilitate international data exchange for health research moving forward.

The mediation is not only an alternative mean for conflict resolution, it is also a culture of communication, developing particular skills, coveted by the today's employers. The possibility of introducing mediation as a discipline in the higher schools is examined in the report. Based on the examined forms of education, offered by foreign and Bulgarian Higher Schools conclusions and summaries are made.