bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prawdopodobna dysfunkcja receptorów GABA-A u pacjentów z zaburzeniami neurorozwojowymi uwarunkowanymi wariantami patogennymi w genie GNAO1.
Authors: Pawłowicz Małgorzata 
Published: January 2022

Wprowadzenie i cel: Spektrum fenotypowe zaburzeń neurorozwojowych związanych z wariantami patogennymi w genie GNAO1 obejmuje encefalopatię rozwojowo-padaczkową (ERP) i szereg zaburzeń ruchowych (ZR). Powyższe objawy kliniczne są związane z zaburzeniami presynaptycznego autohamującego działania neuroprzekaźników na receptory: muskarynowy M2/M4, α2-adrenergiczny, opioidowy μ/δ, gabaergiczny GABA-B. Dokonano analizy korelacji fenotyp-genotyp u pacjentów z wariantami patogennymi w genie GNAO1 celem zidentyfikowania nowych powiązań pomiędzy objawami klinicznymi a określonymi zaburzeniami neuroprzekaźnictwa.
Materiał i metody: Przebieg kliniczny choroby oceniano u dwóch pacjentów polskiego pochodzenia ze zidentyfikowanymi wariantami patogennymi w genie GNAO1 de novo. W obu przypadkach diagnozę postawiono na podstawie sekwencjonowania całoeksomowego (WES) na platformie Illumina.
Wyniki: U pierwszego pacjenta z objawami ERP został zidentyfikowany wariant typu utraty funkcji w genie GNAO1 (c.607G>A). U tego pacjenta ZR (choreatetoza, dystonia ogniskowa) współistniały z napadami padaczkowymi. U drugiego pacjenta ta sama prezentacja kliniczna ZR, bez współistniejącej padaczki, była spowodowana przez patogenny wariant o nieznanej funkcji (c.709G>A). U obu pacjentów stwierdzono nadwrażliwość na wyższe dawki benzodiazepin, a u drugiego również na wyższe dawki baklofenu. U pierwszego pacjenta obserwowano wczesny początek ERP (2. tyg. ż.) z dobrą odpowiedzią na leczenie wigabatryną i następującym rozwojem nadmiernej reakcji zaskoczenia od 3 r. ż., z paradoksalną reakcją na leczenie klonazepamem.
Wnioski: Przeprowadzona analiza korelacji fenotyp-genotyp u dwóch pacjentów z zaburzeniami neurorozwojowymi związanymi z wariantami patogennymi w genie GNAO1 zidentyfikowała reakcje na zastosowane leczenie lub reakcje nadwrażliwości na leki, które mogą wskazywać na zaburzenia czynnościowe nie tylko receptorów GABA-B, ale również GABA-A. Potrzebne są dalsze badania funkcjonalne.
Potential link between playing wind instruments and vocal tract disorders. A literature review
Authors: Machowiec Piotr Artur , Maksymowicz Marcela , Ręka Gabriela , Piecewicz-Szczęsna Halina 
Published: January 2022

Introduction and purpose: Currently, we can distinguish three basic groups of instruments. These are wind instruments, percussion instruments, and plucked instruments. In the case of wind instruments, the source of sound is a vibrating column of air, which is created by blowing by the player. It is suspected that such vibration may cause specific vocal and laryngeal symptoms. The aim of the study was to present the current state of knowledge regarding the potential relation between playing wind instruments and vocal tract disorders.
Material and methods: The article reviews 19 publications available on the PubMed and Google Scholar, Web of Science databases meeting assumed criteria: published as a full text, without time limit and conducted on humans. The studies were found using initially established searching strategies as well as subsequent manual searching in order not to miss adequate articles.
State of knowledge: Laryngeal symptoms may be combined with vocal symptoms. The main raised vocal manifestations among instrumentalists are dysphonia, hoarseness, and altered voice quality. Comparing a group that used wind instruments with control, VHI-10 (Voice Handicap Index) and F0 (fundamental frequency) and HNR (harmonics-to-noise ratio) were higher while jitter % and shimmer %, which are perturbation parameters, were lower in the study group. The majority of studies has a limitation because they were performed in a limited number of volunteers.
Conclusions: The symptoms of the vocal tract related to playing wind instruments are characterized by a low frequency of occurrence and intensity. However, further research is needed to assess this relation.
Daily Living Skills in Adolescent and Young Adult Males With Fragile X Syndrome
Authors: Thurman Angela John , Swinehart Stephanie Summers , Klusek Jessica , Roberts Jane E. , Bullard Lauren , Marzan Jocelyn Christina B. , Brown W. Ted , Abbeduto Leonard 
Published: January 2022

Abstract
By adulthood, most males with fragile X syndrome (FXS) require support to navigate day-to-day settings. The present study cross-sectionally: (1) characterized the profile of daily living skills in males with FXS and (2) examined associated participant characteristics (i.e., fragile X mental retardation protein [FMRP] expression, nonverbal cognition, language, autism symptomatology, and anxiety symptomatology) using the Waisman-Activities of Daily Living questionnaire. Males with FXS (n = 57, ages 15–23 years) needed more help/support in the areas of domestic and community daily livings skills, than in the area of personal daily living skills. Significant associations were observed between reduced daily living skills and lower nonverbal cognition, receptive language, expressive language, and increased autism symptomatology. Receptive language emerged as the strongest unique predictor of daily living skill performance.
STUDY OF THE AMINO ACID AND ELEMENTAL COMPOSITION OF THE COMPLEX DRY EXTRACT "PHY-TOINFLAM"
Authors: Karieva Ekut Saidkarimovna , Gaipova Nodira Nigmatillaevna , Nuridullaeva Kamola Negmatilloevna 
Published: January 2022

The purpose of this research is to study the amino acid and elemental composition of the complex dry extract "Phytoinflam" obtained from ordinary Oak (latin. Quercus robur L.). Chamomile (latin. Chamоmilla recutita (L.)) and three-lobe Beggarticks (latin. Bidens tripartita).
Determination of the amino acid composition was carried out by high performance liquid chromatography (HPLC), and the quantitative determination of macro-and microelements - by the method of inductively coupled plasma mass spectrometry (ICP-MS)
According to the results of the research, it was revealed that 20 amino acids were found in the dry extract "Phytoinflam": 15 of which are representatives of various classes of aliphatic amino acids, 3 – aromatic and 2 – heterocyclic. It should be noted that ten out of twenty discovered amino acids are irreplaceable. The largest quantities are proline, valine, alanine, arginine, cysteine and glutamine. The total amino acid content was 14.767 mg/100 mg, of which 38.97% were essential amino acids, and, accordingly, 61.03% were non-essential.
The results of the study of micro- and macroelements showed the presence of 28 elements in the analyzed extract, among which seven are essential (Co, Cr, Cu, Fe, Mn, Se, Zn) and four conditionally essential. It is noted that the high content of such elements important for the vital activity of the body as calcium, potassium, sodium, magnesium, silver, strontium. The concentrations of heavy metals and arsenic in the analyzed dry extract did not exceed the regulated limit according to WHO and state Pharmacopoeia XIV.
The data obtained indicate the high value of the complex dry extract "Phytoinflam", which confirms its therapeutic value and the possibility of creating drugs based on it.
AGE-SPECIFIC DYNAMICS OF ESSENTIAL OIL CONTENT IN ABIES SIBIRICA BARK. THEORETICAL ASPECTS OF EVALUATION
Authors: Ushanov Sergey Viktorovich , Ushanova Valentina Mikhaylovna 
Published: January 2022

The variability of the essential oil content in Abies Sibirica bark in the Eastern and Western parts of the Krasnoyarsk forest-steppe was evaluated in eight age groups. The model of the age dynamics of changes in the essential oil content in the bark of Abies Sibirica, which is adequate to the experimental data, was obtained. With increasing age of fir, the content of fir oil in the bark increases from 1.4±0.1% of a. s. s. in 20–30 years of age to 2.8±0.2% of a.s.s. at the age of 70–80 years, with further decreases to 0.4±0.1% of a. s. s. in overmature trees.
The results of parametric identification of the model for Abies Sibirica growing in the Krasnoyarsk forest-steppe are presented. Based on the results of 50.000 computational experiments, the simulation method estimates the statistics of changes in the model coefficients and 95% of the boundary of the forecast values of the content of fir oil in the bark. A compartment model is proposed that explains the age-specific dynamics of essential oil content in tree greens and Siberian fir bark. The obtained solution compartment model allows us to associate its parameters with the coefficients of models of changes in the content of fir oil in tree greens and bark obtained by processing experimental data.
THE INFLUENCE OF THE CLIMATIC CONDITIONS OF THE REPUBLIC OF DAGESTAN ON THE CONTENT OF FATTY OIL AND OTHER BIOLOGICALLY ACTIVE SUBSTANCES IN THE FRUITS OF MILK THISTLE SPOTTED
Authors: Ramazanov Arsen Shamsudinovich , Balayeva Shamsiyat Abdulmejidovna , Rudakov Oleg Borisovich , Saranov Igor' Aleksandrovich 
Published: January 2022

The object of the study was the fruits of milk thistle [Silybum marianum (L) Gaertn.] and fatty oil obtained from them by hexane extraction in the Soxlet apparatus.
The aim of the study was to study the influence of natural and climatic conditions on the accumulation of fatty oil and other biologically active substances in the fruits of milk thistle growing on the territory of the Republic of Dagestan.
It was found that the content of fatty oil and proteins in the fruits of milk thistle increases with a decrease in air temperature, an increase in the amount of precipitation and soil moisture at the place of growth; the content of carbohydrates and flavolignans in the studied samples of milk thistle fruits is inversely dependent on the content of fatty oil.
It was revealed that with an increase in the amount of precipitation and a decrease in the amount of active temperatures during the change of the natural and climatic zone from the foothill Kaitagsky to the high-mountain Kulinsky district, the total content of unsaturated fatty acids, primarily linoleic acid, in milk thistle oil samples decreases.
The method of differential scanning calorimetry has been used to study the thermophysical properties of the fatty oil of milk thistle growing in the Kulinsky, Levashinsky and Kaitagsky districts of Dagestan. The results of the thermal analysis are in good agreement with the conclusions obtained from the results of chemical and chromatographic analysis, differential scanning calorimetry allows us to identify trends in the change in the fatty acid and triglyceride composition of milk thistle fatty oil, depending on the natural and climatic conditions of the growth of milk thistle.
REMOTE SENSING DATA IN MUNICIPAL GOVERNMENT
Authors: Nýdrle Jaroslav 
Published: January 2022

This article focuses on the issue of using data obtained through remote sensing methods in the administrative district of the municipality with extended powers of Liberec (the Czech Republic). The first part of the article discusses the question of using Earth remote sensing data for city agendas in general. Then, it presents a questionnaire, created for evaluating the needs of the Liberec municipality. This questionnaire, focusing on the use of remotely sensed data, was created on the basis of a review of relevant literature. Based on the results of the questionnaire, the following spatial information requirements were chosen to be addressed: land surface temperature map - LST (Landsat 8), vegetation index - NDVI (Sentinel 2, Planet Scope), normalized difference water index - NDWI, NDWI 2 (Sentinel 2), normalized difference built-up index - NDBI (Sentinel 2). All data obtained during the creation of this study have become part of the database of the Urban Planning and GIS Department and are available to employees of the City of Liberec.
Media framing of immigrants in Central Europe in the period surrounding the refugee crisis: Security, negativity, and political sources
Authors: Kovář Jan 
Published: January 2022

Abstract
This article investigates how all the main quality and tabloid newspapers and the television newscasts of the main broadcasters in Czechia and Slovakia framed immigrants, what the tone of the employed frames was, and who the main framing actors were before and during the EU refugee crisis (2013–2016). Using quantitative content analysis (N = 7,910), we show that security and cultural frames are most commonly employed while the victimization frame is much less common. Whereas tabloids use the security and cultural frames more often, the victimization, economic and administrative frames are more often invoked in quality media. We also show that the framing of immigrants is predominantly negative, and that the security and cultural are the most negatively valenced frames. Finally, we document a dominance of political actors and the practical invisibility of immigrants and refugees in the media coverage.
Structural Breaks and Explosive Behavior in the Long-Run: The Case of Australian Real House Prices, 1870–2020
Authors: Esteve Vicente , Prats Maria A. 
Published: January 2022

Abstract
In this article, we use tests of explosive behavior in real house prices with annual data for the case of Australia for the period 1870–2020. The main contribution of this paper is the use of very long time series. It is important to use longer span data because it offers more powerful econometric results. To detect episodes of potential explosive behavior in house prices over this long period, we use the recursive unit root tests for explosiveness proposed by Phillips et al. (2011), (2015a,b). According to the results, there is a clear speculative bubble behavior in real house prices between 1997 and 2020, speculative process that has not yet been adjusted.
A semiotic analysis of multiple systems of logic: using tagmemic theory to assess the usefulness and limitations of formal logics, and to produce a mathematical lattice model including multiple systems of logic
Authors: Poythress Vern 
Published: January 2022

Abstract
Tagmemic theory as a semiotic theory can be used to analyze multiple systems of logic and to assess their strengths and weaknesses. This analysis constitutes an application of semiotics and also a contribution to understanding of the nature of logic within the context of human meaning. Each system of logic is best adapted to represent one portion of human rationality. Acknowledging this correlation between systems and their targets helps explain the usefulness of more than one system. Among these systems, the two-valued system of classical logic takes its place. All the systems of logic can be incorporated into a complex mathematical model that has a place for each system and that represents a larger whole in human reasoning. The model can represent why tight formal systems of logic can be applied in some contexts with great success, but in other contexts are not directly applicable. The result suggests that human reasoning is innately richer than any one formal system of logic.
Historische Erfahrung und politisches Handeln
Authors: Jünger David 
Published: January 2022

Abstract
David Jünger untersucht in seinem Aufsatz die intellektuelle und politische Auseinandersetzung des deutsch-amerikanischen Rabbiners Joachim Prinz (1902–1988) mit der afroamerikanischen Bürgerrechtsbewegung und dem amerikanischen Rassismus der ersten beiden Nachkriegsdekaden. Diese Auseinandersetzung, so die These, ist nur vor dem Hintergrund seiner persönlichen Erfahrungen mit Nationalsozialismus und antisemitischer Ausgrenzung zu verstehen. Die von Prinz in den frühen 1930er Jahren diskutierten Motive von Ghettoisierung, Isolation und Nachbarlosigkeit wurden zur Richtschnur seines späteren intellektuellen Denkens und politischen Handelns sowohl im Hinblick auf die rassistische Segregation in Amerika als auch auf die Konstitution der globalen Judenheiten nach dem Holocaust und der Gründung des Staats Israel.
Innenansichten einer „Staatspartei“
Authors: Schlemmer Thomas 
Published: January 2022

Abstract
Obwohl die Christlich-Soziale Union in Bayern (CSU) seit den 1970er Jahren immer wieder das Interesse der historischen und der sozialwissenschaftlichen Forschung gefunden hat, gibt es eine bemerkenswerte Leerstelle in der Geschichte der Partei, deren absolute Mehrheiten lange Zeit gleichsam vorprogrammiert schienen: Über die erste Hälfte der 1950er Jahre weiß man vergleichsweise wenig, als die CSU nach einem vielversprechenden Aufbruch 1945/46 in eine tiefe Krise geriet, von der sie sich erst seit 1955 zu erholen begann. Thomas Schlemmer leistet mit seiner Dokumentation einen Beitrag dazu, diese Lücke zu schließen. Die Quellen, die er präsentiert, zeigen, wie ausgezehrt und von den Schatten der Vergangenheit bedroht die selbsternannte „Staatspartei“ im Vorfeld der zweiten Bundestagswahl 1953 gewesen ist. Die Reiseberichte des CSU-Landesgeschäftsführers Alois Engelhard porträtieren die bayerische Provinz in einem Moment, in dem von den krisenhaften Anfängen der von den Kriegsfolgen schwer gezeichneten Bundesrepublik noch viel, von den Segnungen des sogenannten Wirtschaftswunders dagegen noch kaum etwas zu spüren war.
The Future of Flexible Product Manufacturing by Using Industry 4.0 Technologies in Regard to Consumer Preferences
Authors: Ejaz Muhammad Rahim 
Published: January 2022

THE AIMS OF THE PAPER
The core objectives of this paper are to understand constantly changing consumer choices over time and the manufacturing of flexible products to answer the problem. The flexible products with multiple utility choices can help consumers from every segment to fulfil their needs. The study has shed light on the flexible product manufacturing process and has also discussed launching strategies into the market with having considered various market factors in the process.
METHODOLOGY
A rigorous analysis of literature has been done to understand why flexible products should be preferred over standard products. Literature related to flexible product strategy is being examined and explored its dimensions of price setting and product utility. MOST IMPORTANT RESULTS
This study provides a road map for companies to shift their focus on developing new manufacturing processes in order to develop flexible products to address dynamic consumer preferences. This study also shed light on the fact the flexible products might be more profitable for the company.
RECOMMENDATIONS
The findings show that flexible products provide larger range of utility choices and with a right price; it can be more profitable than a standard product. Flexible products can go along with mass customisation of products which can enlarge utility choices for consumers to an unlimited level.
Az innovációs ökoszisztéma menedzsment strukturális kihívásai – a szakirodalom tükrében
Authors: Horváth Klaudia Gabriella 
Published: January 2022

A TANULMÁNY CÉLJA
Az innováció a fenntartható gazdasági fejlődés egyik fő mozgatórugója. Arra tekintettel azonban, hogy az innováció általánosságban drága és bizonytalan folyamat, a gazdasági szereplők különböző együttműködéseket hoznak létre az innovációs tevékenység költségeinek és kockázatainak csökkentése érdekében. Ezen kooperációk egyik típusának tekinthetők az innovációs ökoszisztémák. Ezzel összefüggésben jelen tanulmány egyrészt bemutatja az innovációs ökoszisztéma, mint együttműködési struktúra fogalmának tudományos szempontú értelemzési kereteit, másrészt körvonalazza az ökoszisztéma menedzsment alapvető strukturális kérdéseit.
ALKALMAZOTT MÓDSZERTAN
A tanulmányban alkalmazott módszertan széleskörű szakirodalomfeldolgozás. Mivel magyar nyelven kevés tudományos igényű publikáció foglalkozik az innovációs ökoszisztémák fent említett kérdésköreivel, a tanulmányban lefektetett elméleti keretek elsősorban a magyarországi ökoszisztéma menedzsment-gyakorlat empirikus vizsgálatának kiindulópontjaként szolgálnak.
LEGFONTOSABB EREDMÉNYEK
A tanulmány egyik fontos eredménye, hogy magyar nyelven, közérthető módon mutatja be az innovációs ökoszisztéma fogalom tudományos gyökereit és definícióját. A tanulmány másik eredménye, hogy széleskörű szakirodalmi szintézis alapján azonosítja az innovációs ökoszisztéma menedzsment strukturális kihívásait. Az öt legfontosabb kihívás a következő: a partneri kör megválasztásának, a működési struktúra kialakításának, az ökoszisztémát vezető személy kijelölésének, az alkalmazkodóképesség meglétének, valamint a formális és informális kapcsolatok egyensúlyának kérdése.
GYAKORLATI JAVASLATOK
Az innovációs ökoszisztéma kifejezés mind a tudományos, mind pedig az üzleti- és kormányzati döntéshozói körökben egyre elterjedtebb. Fontos ugyanakkor, hogy a fogalom pontos értelmezési keretei nehezen lehatárolhatók, éppen ezért lényeges, hogy a kifejezést mindig jól meghatározott összefüggésben használjuk. Az ökoszisztémák kialakítása és menedzselése számos stratégiai és strukturális kérdést vet fel, mivel az ökoszisztémás kooperáció alapvető működési elve a hatékony értékteremtés. Az ökoszisztémák eredményes működtetéséhez így nélkülözhetetlen a tudatos ökoszisztéma menedzsment.
Köszönetnyilvánítás: Jelen publikáció az Innovációs és Technológiai Minisztérium Kooperatív Doktori Program Doktori Hallgatói ösztöndíj Programjának a Nemzeti Kutatási, Fejlesztési és Innovációs Alapból finanszírozott szakmai Támogatásával készült.
Baranya nemzetiségei és nemzetiségi önkormányzatai
Authors: Reisz Terézia 
Published: January 2022

2019-ben kezdte meg a PTE BTK HFMI kutatócsoportja Baranya megye kulturális és közösségi életének vizsgálatát. A kutatás folytatásaként, 2021 augusztusa óta a megyében élő hazai nemzetiségek közösségi életét, az önkormányzataikban, egyesületeikben és a kulturális intézményeikben zajló munka alakulását vizsgálja a kutatócsoport a Nemzeti Művelődési Intézet „Közművelődési ösztöndíj kutatócsoportok számára” c. programjának keretében. A dolgozat feltárja az aktuális népszámlálási adatok alapján a 13 nemzetiség demográfiai, térségi, társadalmi jellemzőit, a változásokban bekövetkezett tendenciákat, valamint a nemzetiségi önkormányzatok települési sajátosságait. A cikk a „Kultúraközvetítés és közösségi élet a Baranya megyei nemzetiségek körében” című kutatás előtanulmányaként készült.
la ocupación al COVID, pasando por los M.E.N.A.S. El diálogo semipresencial como metodología innovadora de aprendizaje antropológico
Authors: Ralero Rojas María Isabel 
Published: January 2022

El método dialógico como técnica mixta de investigación y aprendizaje tiene un desarrollo muy prometedor dentro y fuera de las aulas. Ello supone asumir que el papel del alumnado puede equipararse al de los sujetos que construyen la realidad social donde se ubican nuestros objetos-sujetos de estudio, y que desde ese rol pueden convertirse en importantes fuentes de reflexividad para adentrarnos en el análisis de hechos sociales relevantes en el momento actual. Introducir enlas aulas herramientas que permitan deconstruir determinadas realidades a partir de los propios discursos de las y losestudiantes, facilita en gran medida su cuestionamiento, más aún si tenemos en cuenta que estos futuros profesionales del ámbito social desempeñarán su trabajo en sociedades complejas en donde el diálogo sumergido en la diversidad puede ser clave para alcanzar una verdadera comprensión de dicha complejidad. En el contexto de crisis sanitaria actual, además, los espacios virtuales y la semipresencialidad han supuesto nuevos retos pero también nuevas oportunidades con las que enriquecer los procesos educativos. Con este trabajo comprobaremos, a través de la propia literalidad del alumnado, cómo desde un grupo de discusión semipresencial se pueden construir cuestiones clave antropológicas basadas en los propios intereses del grupo, alcanzando en una sola sesión importantes aprendizajes curriculares tanto transversales como específicos de la materia. Esto puede contribuir a entender mejor el papel docente como acompañante en esta construcción, de manera que sea posible atender a diversidad de planteamientos y posiciones existentes dentro y fuera del aula.