Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. WS is variably associated with diabetes insipidus, neurological disorders, urinary tract anomalies, endocrine dysfunctions and many other systemic manifestations. Since Wolfram and Wagener first described WS in 1938, new phenotypic/genotypic variants of the syndrome have been observed and the clinical picture has been significantly enriched. To date, two main subtypes of WS that associated with two different mutations are known: WS type 1 (WS1), caused by the mutation of the wolframine gene (WS1; 606201), and WS type 2 (WS2), caused by the mutation of the CISD2 gene (WS2; 604928). Methods: A systematic review of the literature was describe the phenotypic characteristics of WS2 in order to highlight the key elements that differentiate it from the classic form. Conclusion: WS2 is the rarest and most recently identified subtype of WS; its clinical picture is partially overlapping with that of WS1, from which it traditionally differs by the absence of diabetes insipidus and the presence of greater bleeding tendency and peptic ulcers.

Sustainability of Print Media in the Slovak Republic with Regard to the Economic and Technological Development

(1) Background: The main purpose of the research study is to identify and quantify significant development trends in the market of selected print media in Slovakia for the period 2010–2020 but especially to analyze their decline trend and estimate their sustainability in the media market after the entry of digital media. (2) Methods: To be able to arrive at qualified answers to the above research questions, we obtained and statistically processed available data on the scope of production and sales of relevant periodicals for the period 2010–2020 in the form of a time series. Subsequently, we chose suitable econometric models (regression analysis, panel data analysis, autoregressive models) as tools for their analysis with the possibility of prognostic applications. (3) Results: Research on selected dailies in the Slovak Republic in the years 2011–2020 revealed findings about the trend and also the nature of its variability, showing approximately the same decreases in the streams of dailies sold. We consider the growing popularity of digital media at the expense of traditional media to be the main reason for the decline in the cost of daily newspapers sold. The analysis and quantification of this substitution relationship will be the subject of our next paper. (4) Conclusions: If the current trend of decreasing daily average sold costs continues in the Slovak Republic, based on derived econometric models, it is possible to qualitatively estimate the minimum acceptable level of daily press sales and, thus, estimate the life of dailies in their classic form. The result will be their new orientation toward the electronic form of media products.

CRIMINAL PROCEDURAL FORMS FOR SOLVING THE PROBLEM OF PETTY CRIME IN SERBIAN AND GERMAN LAW

The subject of the paper is the analysis of solutions that exist in Serbian and German criminal procedural law and refer to cases in which the public prosecutor in the field of petty crime is authorized to act towards adult perpetrators in accordance with the principle of opportunity of criminal prosecution. In relation to one variant of this principle, which implies conditional and temporary restraint of criminal prosecution, there is a distinct similarity in both mentioned legislations. However, with regard to the classic form of this procedural principle, which enables the public prosecutor to refrain prosecution for reasons of expediency, where he primarily values the public interest in prosecuting, there is a striking difference, because our criminal procedural law does not allow such a variant of the principle of opportunity of criminal prosecution. This difference is a consequence of a different criminal policy approach, because while in German criminal law the problem of petty crime is solved exclusively by procedural mechanisms, in Serbian criminal law, in addition to procedural law, there are also appropriate instruments in the substantive criminal law.

Thoughts Unlocked by Technology—a Survey in Germany About Brain-Computer Interfaces

A brain-computer interface (BCI) is a rapidly evolving neurotechnology connecting the human brain with a computer. In its classic form, brain activity is recorded and used to control external devices like protheses or wheelchairs. Thus, BCI users act with the power of their thoughts. While the initial development has focused on medical uses of BCIs, non-medical applications have recently been gaining more attention, for example in automobiles, airplanes, and the entertainment context. However, the attitudes of the general public towards BCIs have hardly been explored. Among the general population in Germany aged 18–65 years, a representative online survey with 20 items was conducted in summer 2018 (n = 1000) and analysed by descriptive statistics. The survey assessed: affinity for technology; previous knowledge and experience concerning BCIs; the attitude towards ethical, social and legal implications of BCI use and demographic information. Our results indicate that BCIs are a unique and puzzling way of human–machine interaction. The findings reveal a positive view and high level of trust in BCIs on the one hand but on the other hand a wide range of ethical and anthropological concerns. Agency and responsibility were clearly attributed to the BCI user. The participants’ opinions were divided regarding the impact BCIs have on humankind. In summary, a high level of ambivalence regarding BCIs was found. We suggest better information of the public and the promotion of public deliberation about BCIs in order to ensure responsible development and application of this potentially disruptive technology.

Efficacy of peritoneal dialysis on encephalopathic patient with Citrullinemia type I

Citrullinemia type I (CTLN1) clinical spectrum includes an acute neonatal form ("classic" form) and a milder late-onset form (“non-classic" form). Infants with classic form appear normal at birth. Shortly thereafter, they experienced hyperammonemia and develops symptoms. Without prompt intervention, rapid neurological deterioration with seizures, spasticity, loss of consciousness and even death can occur. Continuous venovenous hemofiltration should be started in neonates and children with ammonia levels > 500 µmol/L or even at lower levels if there has been an inadequate response to medical management after 4 hours. Alternatively, but only in centers that lack ability or expertise to perform extracorporeal therapy, peritoneal dialysis can be utilized. The hallmarks of dialysis is rapid lowering of plasma ammonia concentration to avoid neurotoxicity and irreversible brain damage. Objectives To evaluate the effect of peritoneal dialysis on plasma ammonia levels and the clinical outcome in an encephalopathic Egyptian patient with CTLN1. Patient and Methods A 2.5 year old male patient with a classical form of CTLN1was recruited. The first presenting symptom of the patient was poor suckling and disturbed conscious level at the age of 5 day. He was admitted to neonatal intensive-care unit (NICU) with hyperammonemic encephalopathy and abnormal pattern of breathing. He developed apneic attack and underwent mechanical ventilation. The diagnosis of CTLN1 was established with elevated plasma ammonia concentration (350 µmol/L) and plasma citrulline concentration (2570 µmol/L). The patient was managed with peritoneal dialysis for 4 days, together with protein restriction, sodium benzoate, arginine therapy and high caloric intake. Results Plasma ammonia level was decreased with improvement of general condition and conscious level after dialysis. Upon discharge from NICU, the patient was referred to our Genetic clinic and no history of further hospital admission since then. Mild developmental delay mainly cognitive was noted during his regular clinic follow up. Conclusion CTLN1 can present with hyperammonemic encephalopathy which could be lethal if not promptly managed. Peritoneal dialysis proved to be an effective therapy of reducing plasma ammonia rapidly and improving outcome of the patient.

Online exams and the COVID-19 pandemic: a hybrid modified FMEA, QFD, and k-means approach to enhance fairness

COVID-19 pandemic caused an increasing demand for online academic classes, which led to the demand for effective online exams with regards to limitations on time and resources. Consequently, holding online exams with sufficient reliability and effectiveness became one of the most critical and challenging subjects in higher education. Therefore, it is essential to have a preventive algorithm to allocate time and financial resources effectively. In the present study, a fair test with sufficient validity is first defined, and then by analogy with an engineering product, the design process is implemented on it. For this purpose, a hybrid method based on FMEA, which is a preventive method to identify potential failure modes and prioritize their risk, is employed. The method's output is provided to the QFD algorithm as the needs of product customers. Then, the proposed solutions to prevent failures are weighted and prioritized as the product's technical features. Some modifications are made to the classic form of FMEA in the proposed method to eliminate its deficiencies and contradictions. Therefore, our proposed algorithm is a precautionary approach that works to prevent breakdowns instead of fixing them following their occurrence. This issue is very effective in increasing the efficiency of activities in times of crisis. Eventually, a prioritized list of preventive actions is provided, allowing us to choose from available solutions in the circumstances with limited time and budgetary, where we cannot take all possible actions.

Emotional Responses to the Visual Patterns of Urban Streets: Evidence from Physiological and Subjective Indicators

Despite recent progress in the research of people’s emotional response to the environment, the built—rather than natural—environment’s emotional effects have not yet been thoroughly examined. In response to this knowledge gap, we recruited 26 participants and scrutinized their emotional response to various urban street scenes through an immersive exposure experiment using virtual reality. We utilized new physiological monitoring technologies that enable synchronized observation of the participants’ electroencephalography, electrodermal activity, and heart rate, as well as their subjective indicators. With the newly introduced measurement for the global visual patterns of the built environment, we built statistical models to examine people’s emotional response to the physical element configuration and color composition of street scenes. We found that more diverse and less fragmented scenes inspired positive emotional feelings. We also found (in)consistency among the physiological and subjective indicators, indicating a potentially interesting neural−physiological interpretation for the classic form−function dichotomy in architecture. Besides the practical implications on promoting physical environment design, this study combined objective physiology-monitoring technology and questionnaire-based research techniques to demonstrate a better approach to quantify environment−emotion relationships.

Concession agreements as a source of attracting investments in the regions of the Russian Federation: current state and implementation problems

The article analyzes the mechanism of public-private partnership as a source of attracting extra-budgetary funds in order to implement investment projects at the regional level. Particular attention is paid to concession agreements, as a classic form of public-private partnership, which implements most of the projects in this area. The authors note that despite the fact that in Russia in recent years the mutual interest of state bodies and the private sector in expanding mutual cooperation has increased and the number of PPP projects is constantly expanding, there are a number of restrictions that have a constraining effect on the implementation of this form of partnership, including, legal and institutional factors. A number of measures have been proposed, aimed not only at supporting ongoing projects, but also at stimulating programs for launching new project initiatives.

About the rare cases of Vogt–Koyanagi–Harada syndrome

Diagnosis of the classic form of Vogt–Koyanagi– Harada syndrome, as a rule, does not present special difficulties. The latter arise when the syndrome develops atypical. The cases described in the article indicate that the specific extraocular symptoms help in the timely diagnosis of the Vogt–Koyanagi–Harada syndrome and may appear long before the development of eye damage in the form of bilateral uveitis. Even in their absence, the presence of bilateral panuveitis on the background of minor meningism with indistinct neurological symptoms and insignificant pleocytosis in the cerebrospinal fluid made it possible to make a diagnosis correctly and start a successful pulse-therapy with steroids. In the development of complications, particularly, in complicated cataracts, the functional results after its removal by phacoemulsification with intraocular lens implantation can be quite successful on the background of adequate corticosteroid therapy. Key words: Vogt–Koyanagi–Harada syndrome, atypical course, clinical rare cases, extraocular symptoms, bilateral uveitis.