bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between chromosomal aberrations and gene expressions in the p53 pathway in chronic lymphocytic leukemia
Authors: Öztan G , Aktan M , Palanduz S , İşsever H , Öztürk S , Nikerel E , Uçur A , Bağatir G , Bayrak A , Çefle K 
Published: August 2020

Abstract
Chronic lymphocytic leukemia (CLL) is a neoplasm characterized by excessive accumulation of B lymphocytes in the peripheral blood, bone marrow and lymph nodes. We assessed the expressions of 22 genes in the p53 pathway in 30 CLL patients and 15 healthy subjects by a RT2 Profiler PCR (polymerase chain reaction) Array technique and their relation to cytogenetic aberrations detected by fluorescent in situ hybridization (FISH). Our Student’s t-test results indicated that ATM, ATR, BAX, CASP9, CDK4, CDKN2A, CHEK1, CHEK2, E2F3, MCL1, MDM2, MDM4, PCNA, RB1, P53 and BCL2 genes were statistically significant (p <0.001). For six genes (APAF1, CDKN1A, E2F1, GADD45A, PTEN and PTX3) were not statistically significant. The ATM, ATR, BAX, CASP9, CDK4, CDKN1A, CDKN2A, CHEK1, CHEK2, MDM2, MDM4, PCNA, RB1, P53, E2F1, GADD45A and BCL2 genes were found to be upregulated by the 2-ᐃᐃCt (relative fold change in gene expression) method. The highest up-regulation was detected in CDKN2A and BCL2 genes, 10.22- and 8.51-fold, respectively. On the other hand, the PTX3 gene with a fold regulation of 1.84 was found to the highest downregulation. Overall, the CDNK2A BCL2 and PTX3 genes are related to the mechanism of the disease in the p53 pathway and may be an important predictor of the prognosis of the disease. The BCL2 gene may be associated with increased risk of developing CLL. We suggest that the PTX3 gene may be considered as a marker associated with CLL disease. The CDKN2A gene expression seems to play a protective role in CLL.
De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly
Authors: Stangler Herodež Š , Marčun Varda N , N Kokalj Vokač , Krgović D 
Published: August 2020

Abstract
Kabuki syndrome (KS) is characterized by typical facial features and patients are also affected by multiple congenital anomalies, of which congenital heart anomalies (CHAs) are present in 28.0 to 80.0%. In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D gene. Although KS is a well-characterized syndrome, reaching the diagnosis in neonates is still challenging. Namely, newborns usually display mild facial features; therefore the diagnosis is mainly based on congenital malformations. In our case, a newborn was referred for next generation sequencing (NGS) testing due to the prenatally observed CHA. After birth, a ventricular septal defect (VSD), vesicoureteral reflux, muscular hypotonia, cleft palate, mild microcephaly, and some dysmorphic features, were noted. The NGS analysis was performed on the proband’s genomic DNA using the TruSight One Sequencing Panel, which enriches exons of 4813 genes with clinical relevance to the disease. After variant calling, NGS data analysis was predominantly focused on rare variants in genes involved in VSD, microcephaly, and muscular hypotonia; features observed predominantly in our proband. With the aforementioned protocol, we were able to determine the previously unreported de novo frameshift deletion in the KMT2D gene resulting in translation termination. Although our proband is a typical representative of KS, his diagnosis was reached only after NGS analysis. Our proband thus represents the importance of genotypephenotype driven NGS analysis in diagnosis of patients with congenital anomalies.
A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features
Authors: Türkyılmaz A , Yaralı O 
Published: August 2020

Abstract
Trisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The clinical presentation of very rare pure partial trisomy 16q cases was associated with congenital anomalies, facial dysmorphic findings and intellectual disability. In this study, we evaluated the physical characteristics and genetic data of an 8-month-old girl with developmental delay and facial dysmorphic features. Dysmorphic features including prominent metopic suture, synophrys, asymmetric head shape, triangular and asymmetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set posteriorly rotated ears, auricular pits, high-arched palate, thin upper lip and hypotonia were recorded. Her karyotype was 46,XX,add(16)(q24). To identify the extension of the duplicated section, array comparative genomic hybridization (aCGH) analysis was performed, which showed a de novo 29.8 Mb duplication [arr[hgl9] 16q12.1q23.3(52459169-82285105) x 3], interpreted to be pathogenic. We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and advance the literature in terms of knowledge regarding genotypephenotype correlation.
Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report
Authors: Karaman A , Karaman B , Çetinkaya A , Karaman S , Demirci O 
Published: August 2020

Abstract
A 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.
Urban party zones and their changes in former communist countries on the example of Polish cities
Authors: Iwanicki Grzegorz , Dłużewska Anna 
Published: August 2020

Abstract
Eight former communist countries joined the European Union in 2004, and since then they have become popular party tourism destinations. In connection with social and economic transformations following the fall of communism, public spaces with the densest concentration of clubs were formed in the centres of big cities. Such a space can be called a “party zone”. This paper presents such zones delimited in Polish cities and attempts to investigate changes in those zones in 2004–17 (and thus, after accession to the EU). An additional objective was to identify the most popular clubs based on information from social media and from interviews with DJs. The results lead to two main conclusions: (a) three main types of party zones can be identified in the analysed cities taking into account their form and relationship to urban space; (b) in 2004–17 the preferences of club-goers changed in favour of open air clubs.
Psychiatric, psychological and ethical determinants of the phenomenon of self-stigmatization of mental illness – literature review
Authors: Soroka Ewelina , Stepulak Marian Zdzisław 
Published: August 2020

Abstract

Introduction: In psychiatry and psychology stigmatization consists in labelling a person suffering from a disorder with the stigma of mental illness, associated with numerous negative stereotypes that are established in both individual and social mentality.

Objective: The aim of the present article is to present the phenomenon of self-stigma from the perspective of psychiatric patients, including patients suffering from schizophrenia, to scientific consideration.

The state of knowledge: The available data on this subject suggests that schizophrenia is particularly stigmatized, and the degree of stigmatization of patients with this diagnosis is worsening. Self-stigma plays a significant role in various areas of patients’ lives, sometimes discouraging them to continue therapy. Psychiatric patients have to face not only the symptoms of their disorders, but also stigmatization. In the event patient’s self-stigmatization of mental illness occurs, a responsible psychiatrist and psychologist conducting the therapy has the moral obligation to supervise the process of psychiatric and psychological assistance in the context of the aforelisted issues.

Conclusions: The problem of self-stigmatization of a psychiatric patients is a topical issue that is well worth further exploration in order to better understand and help patients more effectively.
Lithium Biosorption by Arthrospira (Spirulina) Platensis Biomass
Authors: Zinicovscaia Inga , Yushin Nikita , Pantelica Ana , Demčák Štefan , Mitu Andreea , Apostol Andrei I. 
Published: August 2020

Abstract
The biosorption of lithium from batch systems by Arthrospira (Spirulina) platensis biomass was studied. Adsorption capacity of the biosorbent was investigated as a function of contact time, initial metals concentration and pH values. Lithium content in biomass was determined using Proton Induced Gamma Emission technique. The ability of spirulina biomass for lithium biosorption showed a maximum at the pH = 11. Equilibrium data fitted well with the Langmuir model with maximum adsorption capacity of 1.75 mg/g, while the kinetic data were best described using the pseudo second-order kinetic model. The IR spectrum of the Li-loaded biomass revealed that lithium ions could be primarily bind to –OH, –COOH, –NH, –NH2, and –NH3 groups present on biosorbent surface. Arthrospira platensis biomass could be applied as environmentally friendly sorbent for lithium removal from wastewater.
An Assessment of the Reliability of Discriminatory Models on the Basis of the Bankruptcy of Comapanies in the Food Industry in Poland
Authors: Kozioł Karolina , Pitera Rafał 
Published: August 2020

Abstract

Research background: The widespread occurrence of the phenomenon of bankruptcy leads to an analysis of the scale and causes of this phenomenon in Polish conditions. It should be remembered that the features that inextricably accompany the conduct of any business are uncertainty and risk, hence the phenomenon of the bankruptcy of enterprises is not foreign and it is impossible to eliminate.

Purpose: Assessment of the credibility of Polish discriminatory models as a method of the early warning of bankruptcy of enterprises on a sample of enterprises from the Polish food industry.

Research methodology: Literature review and verification of 10 methods using a linear function of discrimination most frequently adopted by people dealing with bankruptcy issues and examination of the financial condition of companies. The food industry was subject to analysis and financial assessment regarding the forecast of the bankruptcy of companies in the process of empirical verification.

Results: The interpretation of the results was based on the financial statements of the survey sample consisting of 50 Polish companies (25 with a good financial condition and 25 that were bankrupt) which in the years 2005–2016 declared bankruptcy).

Novelty: The results are based on a sample of food industry companies point to the legitimacy of the research. The use of a linear discriminant function confirms the usefulness of early warning models (prognostic reliability around 70%). The study presents a classification of models according to prognostic reliability. Guided by the criterion of model credibility, one can use tools with high prognostic efficiency in assessing the financial situation.
An Analysis of Entrepreneurship in Family-Owned Stock Companies
Authors: Mioduchowska-Jaroszewicz Edyta 
Published: August 2020

Abstract

Research background: Family businesses are included in the functioning of each market transaction. testing their development and dissemination can be an interesting area of research from the point of view of hierarchy and from the point of view of the owners of these companies.

Purpose: The purpose of the article was to present an analysis of entrepreneurship of family-owned companies listed on the Warsaw Stock Exchange (WSE).

Researcher methodology: The quantitative analysis method, including also the descriptive statistics method, ratio analysis, and inference was incorporated. The study was based on the financial data of 38 family capital groups. The data analysis on entrepreneurship in the years 2009–2018 indicates that in the case of all of the studied companies most were in a stable situation. The analysis of entrepreneurship, which takes into account the rate of income growth and efficiency indicators, indicates that the examined group of family companies was characterized by a high level of entrepreneurship throughout the analysed period, thus showing a downward trend.

The results: The results of the research may form the basis for further research in the field presented in the article with an emphasis on sector diversification, the size of companies and the extension of the analysed time periods.

Novelty: Entrepreneurship research in family entities can be seen from the point of view of the rate of increase of revenues and efficiency of assets and cash efficiency.
Output Volatility and Government Size in Nigeria
Authors: Nwosa Philip I. , Ehinomen Chris , Ugwu Ephraim 
Published: August 2020

Abstract

Research background: Output volatility has potentially adverse consequences on the economy and the stabilizing role of fiscal policy is linked to the share of government size in an economy. Hence, given the relative large share of government in developing countries, government size is expected to play an important role in stabilizing output volatility.

Purpose: This study examines the relationship between output volatility and government size in Nigeria. The study seeks to establish if government size mitigates output volatility in Nigeria.

Research methodology: The study employs the Autoregressive Distributed Lag (ARDL) technique after conducting stationarity and co-integration tests.

Results: The results of the ARDL estimate showed that government size lessens output volatility but the magnitude was insignificant. Further, the study found that volatility in aggregate government spending; international oil price and public debt were significant determinants of output volatility in Nigeria.

Novelty: This showed that the automatic stabilization role of government size on output volatility could not be established. The automatic stabilization role of fiscal policy can be improved by increasing social security transfers (pension payment), payments of unemployment benefits and increasing civil servants minimum wage.
Econometric Analysis of the Relationship Between Innovation and Foreign Trade Distance in Central and Eastern Europe Countries
Authors: Salamaga Marcin 
Published: August 2020

Abstract

Research background: Posner’s technology gap theories and Vernon’s product life cycle assume that differences in innovation and technology levels are the cause of foreign trade. These theories are subject to empirical verification. To date, however, the analysis of the impact of innovation distance on a country’s export competitiveness is omitted. This article tries to fill this research gap. The author attempts to examine the relationship between the innovation gap and export competitiveness in industries with varying levels of technological advancement.

Purpose: The aim of the article is to research the direction and strength of the impact of the innovation gap on export competitiveness in 10 different industries in Central and Eastern Europe countries (CEECs).

Research methodology: Dynamic panel models were used in the research, which describe the impact of the technological gap on the export competitiveness of countries. To measure innovation, the indicator of innovative comparative advantage was constructed and based on the number of patents used. The technological gap in individual countries was calculated as the Euclidean distance indicators of the innovative advantage in a given country from other countries.

Results: In light of the presented results of the study, it can be concluded that innovation generally has a significant and positive impact on the competitiveness of exports in the high and medium-high technology industries of the CEECs, while it does not significantly affect the competitiveness of trade in low technology industries. In addition, the Visegrad countries in the high and medium-high technology industries generally have a low technological gap and a smaller distance in export competitiveness using the dynamic panel data model.

Novelty: The added value of this article is an innovative study on the impact of the technological gap on export competitiveness with the example of the CEECs using the dynamic panel data model.
Analysis of Household Income in Poland Based on the Zenga Distribution and Selected Income Inequality Measure
Authors: Trzcińska Kamila 
Published: August 2020

Abstract

Research background: A lot of research has been directed at describing empirical distributions by using a theoretical model. In the literature there are proposals for various types of mathematical functions. In 2010 Zenga proposed a new three-parameter model for economic size distribution which possesses interesting statistical properties which can be used to model income, wealth and financial variables.

Purpose: The aim of this paper is to apply the Zenga model to income distributions in Poland by voivodeship.

Research methodology: The basis for the calculations presented in the paper has been based on the individual data coming from a random sample obtained within a Household Budget Survey conducted by the central Statistical Office in the year 2014. The parameters estimates of the Zenga distribution were obtained by means of the D’Addario’s invariants methods, mainly with the Pietra index.

Results: The results of the conducted approximations, presented in the paper confirmed the good consistency of the Zenga distribution with the empirical income distribution in Poland, both in total and for households.

Novelty: The study contributed to the application of a new three-parameter income distribution model to describe income distributions in Poland.
Genetic and morphological variability in medicinal plant Helichrysum oocephalum Boiss. (Asteraceae) in Iran
Authors: Abbaszadeh Mobina , Sheidai Masoud , Azizi Narges , Koohdar Fahimeh 
Published: August 2020

Abstract

Helichrysum oocephalum is a medicinal plant of the genus Helichrysum that have limited distribution in Iran. Local geographical populations may differ in their genetic content and form different gene pools. Therefore, we carried out population genetic investigation and morphological studies in five geographical populations of Helichrysum oocephalum by using ISSR molecular markers. AMOVA produced the significant genetic differences. The mean Nm value revealed some degree of gene flow among Helichrysum oocephalum 8. Molecular and morphological analysis indicated that we have 2 groups in the studied populations. The present findings may be of use in the conservation of this medicinal plant in Iran.
Forest vegetation diversity of the Slivenska Mountain (Eastern Stara planina, Bulgaria)
Authors: Alexandrova Alexandra , Dimitrov Marius , Vassilev Kiril , Sopotlieva Desislava , Pedashenko Hristo , Tashev Alexander 
Published: August 2020

Abstract
This study deals with the diversity of forest vegetation in the Slivenska Mountain (Eastern Stara planina) and presents a contemporary classification scheme for the identified syntaxa. A total of 137 relevés were collected and analyzed using specialized software (JUICE 7.0 and PC-ORD Version 4). As a result, forest vegetation is classified into 10 associations, 3 subassociations, 4 variants and 5 communities They belong to 7 alliances, 5 orders and 3 classes: Carpino-Fagetea sylvaticae, Quercetea pubescentis and Alno glutinosae-Populetea albae. The recorded 18 distinguished vegetation groups show a relatively high diversity of forest plant communities of the study area.
Local Levenberg-Marquardt Algorithm for Learning Feedforwad Neural Networks
Authors: Bilski Jarosław , Kowalczyk Bartosz , Marchlewska Alina , Zurada Jacek M. 
Published: August 2020

Abstract
This paper presents a local modification of the Levenberg-Marquardt algorithm (LM). First, the mathematical basics of the classic LM method are shown. The classic LM algorithm is very efficient for learning small neural networks. For bigger neural networks, whose computational complexity grows significantly, it makes this method practically inefficient. In order to overcome this limitation, local modification of the LM is introduced in this paper. The main goal of this paper is to develop a more complexity efficient modification of the LM method by using a local computation. The introduced modification has been tested on the following benchmarks: the function approximation and classification problems. The obtained results have been compared to the classic LM method performance. The paper shows that the local modification of the LM method significantly improves the algorithm’s performance for bigger networks. Several possible proposals for future works are suggested.
Road-objects tracking for autonomous driving using lidar and radar fusion
Authors: Farag Wael 
Published: August 2020

Abstract
In this paper, based on the fusion of Lidar and Radar measurement data, a real-time road-Object Detection and Tracking (LR_ODT) method for autonomous driving is proposed. The lidar and radar devices are installed on the ego car, and a customized Unscented Kalman Filter (UKF) is used for their data fusion. Lidars are accurate in determining objects’ positions but significantly less accurate on measuring their velocities. However, Radars are more accurate on measuring objects velocities but less accurate on determining their positions as they have a lower spatial resolution. Therefore, the merits of both sensors are combined using the proposed fusion approach to provide both pose and velocity data for objects moving in roads precisely. The Grid-Based Density-Based Spatial Clustering of Applications with Noise (GB-DBSCAN) clustering algorithm is used to detect objects and estimate their centroids from the lidar and radar raw data. Then, the estimation of the object’s velocity as well as determining its corresponding geometrical shape is performed by the RANdom SAmple Consensus (RANSAC) algorithm. The proposed technique is implemented using the high-performance language C++ and utilizes highly optimized math and optimization libraries for best real-time performance. The performance of the UKF fusion is compared to that of the Extended Kalman Filter fusion (EKF) showing its superiority. Simulation studies have been carried out to evaluate the performance of the LR ODT for tracking bicycles, cars, and pedestrians.
Bi-directional relay network employing signal space diversity
Authors: Yılmaz Mümtaz 
Published: August 2020

Abstract
In this work, signal space diversity (SSD) method is exploited for a simple two-way relay channel (TWRC) with two end users mutually exchanging information. In order to ensure simplicity, the same rotation angle and interleavers are used under SSD framework. Also the well known decode-and-forward (DF) and amplify-and-forward (AF) protocols are adapted for the proposed TWRC. The analytical symbol error rate (SER) performance of the proposed scheme is evaluated for DF and AF protocols individually and evaluated through simulation results. The proposed scheme is shown to improve the performance of TWRC in terms of SER for both two protocols.