bluuebunny/crossref_metadata_2025 huggingface dataset:
Platinum, palladium, and rhodium in airborne particulate matter
Authors: Rinkovec Jasmina
Published: December 2019

Measurable quantities of platinum, palladium, and rhodium, even in remote areas of the planet, evidence the global nature of pollution with these metals, mostly from catalytic converters of modern vehicles (other sources are jewellery production, chemical industry, and anticancer drugs). The amount of the platinum group metals (PGMs) emitted from automobile catalysts varies with the type, age, and condition of the engine and the catalyst, as well as the style of driving. Current literature suggests that the concentrations of these metals have increased considerably over the last twenty years, palladium concentrations in particular, as it has been proved more effective catalyst than platinum. However, whether and to what extent the emitted PGMs are toxic for people is still a controversy. The potential health risk from exposure to these elements is most likely for those living in urban environments with busy roads or along major highways. Because of the importance of PGMs and their trace levels in particulate matter, sensitive methods are required for reliable determination. This review discusses particular steps of analytical procedures for PGM quantification in airborne particulate matter and addresses the common preparation, detection, and determination methods.
Toxic activity of Prunus spinosa L. flower extract in hepatocarcinoma cells
Authors: Murati Teuta , Miletić Marina , Kolarić Josipa , Lovrić Vanja , Kovačević Danijela Bursać , Putnik Predrag , Jurčević Irena Landeka , Đikić Domagoj , Dragović-Uzelac Verica , Kmetič Ivana
Published: December 2019

Prunus spinosa L. (blackthorn) is used in traditional medicine as a remedy for various diseases. To establish its anticancer properties, we exposed human liver cancer cells (Hep G2) to a range of blackthorn flower extract concentrations (10-200 µg/mL) and determined cytotoxic activity with the neutral red and kenacid blue methods after 24, 48, and 72 h of incubation. Statistically significant inhibitory effects on Hep G2 cellular proliferation were observed at concentrations above 50 µg/mL (p<0.001–0.05). Cell viability was lower when determined with neutral red than kenacid blue method. In addition, we evaluated antioxidant/prooxidant effects of the blackthorn flower extract by measuring reactive oxygen species (ROS), and the results confirmed its prooxidant behaviour within the applied concentration range. Flow cytometry determined primarily necrotic and apoptotic cell death, which provides additional evidence of its cytotoxic effect on liver carcinoma.
DNA damage assessment with buccal micronucleus cytome assay in Turkish coal miners
Authors: Anlar Hatice Gül , Bacanli Merve , Kurt Özlem Kar , Eraydin Canan
Published: December 2019

The aim of this study was to assess DNA damage in Turkish coal miners with the buccal micronucleus cytome (BMCyt assay as the least invasive and therefore most practical method that may find wider application in coal miner biomonitoring. Buccal epithelial cell samples were taken from 54 coal miners and 42 controls from Zonguldak, Turkey to establish their micronucleus (MN), binucleus (BN), condensed chromatin (CC), karyorrhectic (KHC), karyolytic (KYL), nuclear bud (NBUD), and pyknotic (PYC) frequencies. We also analysed the effects of confounding factors such as age, years of work at the mine, smoking, alcohol drinking, and use of protective equipment on differences in MN frequencies. Two miners had confirmed and three suspect pneumoconiosis, whereas 49 displayed normal chest radiographs. MN, BN, KHC, and NBUD frequencies were significantly higher in coal miners than controls. Years of work at the mine also showed a significant effect on buccal MN frequencies in coal miners, but we found no correlation between MN frequencies and age, smoking, and alcohol consumption. In conclusion, BMCyt assay proved itself an accurate and practical screening method, as it can detect DNA damage much earlier than pneumoconiosis develops.
Effects of butylparaben on antioxidant enzyme activities and histopathological changes in rat tissues
Authors: Aydemir Duygu , Öztaşcı Burcu , Barlas Nurhayat , Ulusu Nuriye Nuray
Published: December 2019

Butyl p-hydroxybenzoic acid, also known as butylparaben (BP), is one of the most common parabens absorbed by the skin and gastrointestinal tract and metabolised in the liver and kidney. Recent in vivo and in vitro studies have raised concern that BP causes reproductive, development, and teratogenic toxicity. However, BP-induced oxidative stress and its relation to tissue damage has not been widely investigated before. Therefore, we aimed to investigate the effects of butyl 4-hydroxybenzoate on enzyme activities related to the pentose phosphate pathway and on glutathione-dependent enzymes such as glucose 6-phosphate dehydrogenase (G6PD), 6-phosphogluconate dehydrogenase (6-PGD), glutathione reductase (GR), glutathione peroxidase (GPx), and glutathione-S-transferase (GST) in kidney, liver, brain, and testis tissues. Male rats were randomly divided into four groups to orally receive corn oil (control) or 200, 400, or 800 mg/kg/day of BP for 14 days. Then we measured G6PD, GR, GST, 6-PGD, and GPx enzyme activities in these tissues and studied histopathological changes. BP treatment caused imbalance in antioxidant enzyme activities and tissue damage in the liver, kidney, brain, and testis. These findings are the first to show the degenerative role of BP on the cellular level. The observed impairment of equivalent homeostasis and antioxidant defence points to oxidative stress as a mechanism behind tissue damage caused by BP.
Indoor carbon dioxide concentrations in Croatian elementary school classrooms during the heating season
Authors: Brdarić Dario , Capak Krunoslav , Gvozdić Vlatka , Barišin Andrea , Jelinić Jagoda Doko , Egorov Andrey , Šapina Matej , Kalambura Sanja , Kramarić Karolina
Published: December 2019

Aware that exposure to stuffy indoor air with high levels of carbon dioxide (CO2) is associated with higher absenteeism and reduced academic performance in school pupils, the World Health Organization (WHO) Regional Office for Europe initiated indoor air quality surveys in schools, including CO2 monitoring, to assess ventilation and exposure to stuffy air. Here we report the findings of the first such survey in Croatia. It was conducted in 60 classrooms of 20 urban and rural elementary schools throughout the country during the heating season. Measurements of CO2 levels showed that all 60 classrooms exceeded the international guidelines of 1938 mg/m3. Mean CO2 concentrations ranged from 2771 to 7763 mg/m3. The highest concentration measured in urban schools was 7763 mg/m3 and in rural schools 4771 mg/m3. Average CO2 levels were higher in continental schools (3683 mg/m3) than the coastal ones (3134 mg/m3), but all demonstrate poor ventilation during the heating season all over Croatia.
Food defence systems as an answer to food terrorism
Authors: Jurica Karlo , Vrdoljak Josip , Karačonji Irena Brčić
Published: December 2019

Terrorist attacks on critical infrastructures can cause problems to a national stability and functioning. Food and water supply chains are some of the most important infrastructures, and it is the country’s (government’s) obligation to provide sufficient quantities of food and water to its population. Intentional food contamination can, among other motives, originate from an act of terrorism (with political or ideological motives) with the aim of causing fear (terror) among people. Food defence systems can help assess vulnerabilities, determine mitigation strategies for terrorist attack, estimate risks, and prevent a terrorist attack. Risk assessment and prevention also include control over the production and distribution of potential chemical, biological, radiological or nuclear (CBRN) agents or their related materials. When a terrorist attack occurs, rapid and organised response is essential in terms of determining the type of agent used, managing the diseased, ensuring the functioning of the food and water supply, and the recovery of the infrastructure system under attack. Food defence planning as part of a food counterterrorism strategy should include considerations regarding the global food market and the fact that ingredients are supplied from all over the world (vendor certificates). Preventing terrorist attacks on sources of food and water is a far better option than crisis management once an attack had already been committed, but governments should have a response to any scenario.
Synergistic effects of parabens and plastic nanoparticles on proliferation of human breast cancer cells
Authors: Roje Željka , Ilić Krunoslav , Galić Emerik , Pavičić Ivan , Turčić Petra , Stanec Zdenko , Vrček Ivana Vinković
Published: December 2019

Many personal care products on the market contain endocrine disrupting chemicals, including parabens. Parabens are well known chemical additives used as preservatives. They have been found in mammary glands and breast cancer tissues. At the same time, the general public is increasingly exposed to plastic micro- and nanoparticles generated during plastic production and waste disposal. Exposure to chemical cocktails is a realistic scenario of high public health interest, in which many types of compounds such as these two may exhibit synergistic or additive adverse effects. This study evaluated the effects of plastic nanoparticles, parabens, and their mixture on the viability and proliferation of two human breast cancer cell lines: MDA-MB 231, which lacks oestrogen receptors, and MCF-7, which expresses these receptors. Parabens increased proliferation of oestrogen-sensitive breast cancer cells, and this effect became synergistic in the presence of plastic nanoparticles. The mechanism behind synergy may be related to the translocation and adsorption properties of nanoplastics, which served as a Trojan horse to expose cells to parabens more efficiently. These preliminary findings support growing evidence warning about the urgent problem of human exposure to combinations of plastic waste and contingent chemicals.
Cryptocurrency – Sentiment Analysis in Social Media
Authors: Dulău Tudor-Mircea , Dulău Mircea
Published: December 2019

The paper proposes the exploration, identification and development of a Java solution for extracting the sentiment related to the cryptocurrencies phenomenon, from the content of the posts of certain popular social networks.

Detecting the positive, neutral or negative character of the sentiment is adopted as a relevant method of establishing the nature of the human perception on the topical issue defined by cryptocurrencies.
The Effect of Squeeze Pin Dimension and Operational Parameters on Material Homogenity of Aluminium High Pressure Die Cast Parts
Authors: Peti Ferencz , Strnad Gabriela
Published: December 2019

The present paper is an experimental study on the squeeze pin effect on the high pressure die cast aluminium parts, as a way of improvement of material homogenity on various and big wall thickness castings. Squeeze is used in high pressure die casting technology for optimizing homogenity of big wall thicknesses of die cast parts working as structural, mechanical and hydraulic components, made of different aluminium alloys such AlSi alloys. The objective of this research is to highlight the primary and secondary effects of squeezing on the structural homogenity of high pressure die cast aluminium parts, as well as the dependence of the effects on the squeeze pin dimensions and the operating parameters.
Some Aspects about Theoretical Static Rigidity and Experimental Static Rigidity of a New Elastic Coupling with Cylindical Bolts and Nonmetallic Elements
Authors: Ghiţescu Marilena , Ghiţescu Marius , Modrea Arina
Published: December 2019

The elastic couplings are frequently used in mechanical transmissions design, to take over the radial, axial and angular misalignments and also to take over the shocks and the overloads that could appear. In this paper is presenting some aspects about the construction of couplings with bolts using non-metallic elements, e.g. rubber, having different hardness, the elements involved in torque transmission, in this case elastic elements, having also different dimensions or forms, in the way to have a good elasticity and capacity of vibration absorbtion, determining theoretical static rigidity and experimental static rigidity of a new elastic coupling with cylindrical bolts and nonmetallic elements and compare of results for these values.
The Puzzle Game Between Design, Science and Skills
Authors: Bucur Bogdan
Published: December 2019

The present paper presents an alternative method regarding the practical solution of defining the puzzle game in terms of design, graphics, 3D modeling and manufacture of the puzzle game. The practical example of making a puzzle game defined by assembling components resulting the administrative map of Romania.
Examination of the Types of Erosion and Introduction of Protective Measures to Prevent Soil Loss
Authors: Beykzade Mohammad , Beykzade Sepide
Published: December 2019

Soil erosion is the most important challenge of the biosphere. Soil is one of the most important and most valuable natural resources. It meets the essential needs of the world. If the soil is not well preserved, then hunger will conquer all over the globe. This article tried to identify types of erosion and provide solutions to prevent it to protect this main material by examining the effects and results.
Aspects on Implementation of an Integrated Waste Management System in the Rural Area
Authors: Bucur Andreea
Published: December 2019

The issue of waste management in terms of environmental protection is one of the important problems facing humanity, especially in the large agglomeration areas, and in the rural area, the interests are more limited.

The present paper presents theoretical aspects regarding the implementation of an integrated waste management system in the rural area.
Teachers’ Work with Taxonomy of Educational Objectives as One of the Forms of the Gifted Preschoolers’ Development
Authors: Machů Eva , Lukeš Petr
Published: December 2019

Introduction:
The article presents the results of a research project the aim of which was to describe the level of kindergarten teachers’ work with educational objectives in connection with the application of a differentiated curriculum for the development of gifted children.

Methods:
The research tool was a questionnaire in which the teachers selected one of three answers possible and matched their pedagogical activities in kindergarten the most. 345 teachers from kindergartens in the Czech Republic took part in the research. Data was processed using computer software SPSS.

Results:
It was discovered that most of them can differentiate their instructions, however, at least a half of them do not respect the rules of inclusive education and their instructions result in an unwanted labelling of the gifted children. We have also proved that the level of the teachers’ work with the educational objectives is positively influenced by their longer than 10 years’ experience, work with heterogeneous class age-wise, and their having attended a seminar focused on the topic of giftedness.

Discussion:
The discussion focuses on the description of variables affecting the level of work with educational objectives in connection with the application of a differentiated curriculum for the development of gifted children.

Limitations:
The limitation is the simplification of the pedagogical reality into 3 possible answers and the artificial metrization of this data. Another problem was that our questionnaire was focused only on selected aspects of pedagogical work with gifted preschoolers, which were related to the curriculum modification and inclusive education. Furthermore, despite the big amount of validly filled in questionnaires (345) the research cannot be considered to be large area survey and the results cannot be generalized.

Conclusions:
Gifted children should have the maximal space for the development of their own potential. It is also necessary to increase the teachers’ skills to apply the differentiated curriculum with the features of inclusive education in order to develop the giftedness of all the children as much as possible. One of the possibilities is the kindergarten teachers’ attendance to educational events on the topic of giftedness, which is one of the variables which significantly influence the quality of their work.
A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria
Authors: Olgac A , Tekin Orgun L , Ezgü FS , Biberoǧlu G , Tümer L
Published: December 2019

L-2-hydroxyglutaric aciduria (L2HGA), which is a rare autosomal recessive metabolic disorder caused by mutations in the encoding L2HGDH gene. Neurological symptoms are the main predominant clinical signs. The distinctive feature is the specific multifocal lesion of the white matter detected on magnetic resonance imaging (MRI). A 7-year-old male patient of Turkish origin was admitted to the hospital because of hand tremors. Physical examination revealed macrocephaly, intention tremors, walking disability and ataxic gait. Urine organic acid analysis showed increased excretion of L-2-hydroxyglutaric acid (L2HG acid). Analysis of the L2HGDH gene revealed a novel homozygous c.368A>G, p. (Tyr123Cys) mutation. L-2-hydroxyglutaric aciduria is a cerebral organic aciduria that may lead to various neurological complications. Early recognition of symptoms of L2HGA is important for initiation of supportive therapy that may slow down the progression of the disease.
Results of liquid biopsy studies by next generation sequencing in patients with advanced stage non-small cell lung cancer: Single center experience from Turkey
Authors: Buyuksimsek M , Togun M , Oguz Kara I , Bisgin A , Boga I , Tohumcuoglu M , Ogul A , Evren Yetisir A , Sahin B , Sumbul HE , Mirili C
Published: December 2019

Several studies demonstrated the utility of plasma-based cell-free circulating tumor DNA (ccfDNA) in determination of mutations in non-small cell lung cancer (NSCLC). We aimed to report our results of next generation sequencing (NGS) using liquid biopsy in patients with NSCLC. Patients with advanced stage NSCLC were enrolled and their genomic profiling results were recorded. Next generation sequencing targeted panel includes 19 hot-spot genes. The plasma was separated from the peripheral blood sample and ccfDNAs were isolated for NGS. We performed genomic profiling in 100 patients (20 females and 80 males) with a median age of 59.3 (range 26-79). A second liquid biopsy was performed in eight patients who developed progressive disease after the first treatment. The study population had adenocarcinoma (AC) (n = 73), squamous cell carcinoma (SCC) (n = 14), or NSCLC-NOS (not otherwise specified) (n = 13). In the SCC group, three of 14 patients had variants on EGFR and MET genes. In the AC and NSCLC-NOS groups, 39 out of 86 patients (45.3%) had variants. The most common one was in the EGFR gene (n = 27, 31.4%) including seven mutations related to drug resistance and two were polymorphisms. Three patients had both driver and resistance mutations (EGFR T790M, n = 2; KRAS exon 2 G12S and MET exon 14 E1012K, n = 1). Fifteen patients (17.4%) had an activating EGFR mutation and eight patients (9.3%) had variants in the KRAS gene. We reported our results regarding genomic profiling related to treatment using liquid biopsy in patients with NSCLC. Advantages of this method are the non invasiveness and reproducibility.
Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia
Authors: Paprocka J , Rzepka-Migut B , Rzepka N , Jezela-Stanek A , Morava E
Published: December 2019

Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). Dominant mutations in the glial fibrillary acidic protein (GFAP) gene in AxD cause dysfunction of astrocytes (a type III intermediate filament). The authors discuss the clinical picture of a boy with infantile form of AxD confirmed by the presence of de novo heterozygous mutation c.236G>A in the GFAP gene and without striking symptoms such as macrocephaly and with exceptional late-onset epileptic spasms with hypsarrhyth- mia on electroencephalogram (EEG).
Chronic obstructive pulmonary disease risk and smoking cessation changes induced by CHRNA5-A3 and CHRNB3-A6 variation in a Chinese male population
Authors: Zhao L , Zou L-Y , Cheng B-F , Yu X-J , Zou J-H , Han W
Published: December 2019

Most studies in the field of CHRNA5-A3 and CHRNB3-A6 have only focused on lung cancer risk; however, the associations with chronic obstructive pulmonary disease (COPD) risk and smoking cessation is less understood, particularly in the Chinese male population. In this study, samples from 823 male patients with COPD (non smokers: 416; still smoking: 407) and 435 smoking male healthy control subjects were performed with DNA extraction and single nucleotide polymorphism (SNP) genotyping. We studied three SNPS in two genes, namely rs667282 and rs3743073 in CHRNA5-A3 and rs4950 in CHRNB3-A6, and their distributions in the three groups are not statistically different (p >0.05). We grouped COPD patients according to whether they had successfully quit smoking, the CT genotype of rs667282 demonstrated association with an increased rate of successful smoking cessation compared with the TT genotype [adjusted odds ratio (OR) = 0.54, 95% confidence interval (95% CI) = 0.37-0.7, p <0.001); rs4950 AG genotypes were distinctly associated with increased rates of successful smoking cessation (adjusted OR = 0.55, 95% CI = 0.40-0.76, p <0.001). The effect is significant under the assumption of an over dominant mode of inheritance (adjusted OR = 0.58, 95% CI = 0.43 to 0.79, p <0.001). No significant difference in rs3743073 was found (p >0.05). Our findings confirmed the hypothesis that CHRNA5-A3 and CHRNB3-A6 variation are not associated with the risk of COPD. We found CHRNA5-A3 and CHRNB3-A6 were significantly associated with successful smoking cessation in smoking COPD patients.
Association of genetic polymorphisms in the Matrix Gla Protein (MGP) gene with coronary artery disease and serum mgp levels
Authors: Karsli-Ceppioglu S , Yazar S , Keskin Y , Karaca M , Luleci NE , Yurdun T
Published: December 2019

Matrix Gla protein (MGP) is an important regulatory protein for inhibition of calcification in the vessel wall and cartilage. The MGP gene polymorphisms are suspected to increase the risk of extracellular calcification through altering the related gene expression and serum MGP levels. The goal of this study was to examine the correlation between rs4236 (Thr83-Ala), rs12304 (Glu60-X) and rs1800802 (T138-C) polymorphisms of the MGP gene and coronary artery calcification. Serum MGP levels of 168 subjects who had undergone coronary angiography were analyzed along with genotyping of MGP gene polymorphisms. The results indicated that serum MGP levels were significantly associated with rs4236 and rs1800802 polymorphisms of the MGP gene with the occurrence of coronary artery diseases (CAD). Allelic distributions of MGP gene polymorphisms and serum MGP levels, respectively, were not significantly interconnected with the presence of CAD. Our results revealed that serum MGP levels of CAD patients show association with rs4236 and rs1800802 polymorphisms, but serum MGP levels alone do not directly reflect the risk of CAD. The role of MGP genetic variants on formation and progression of arterial calcification should be regarded in cardiovascular diseases.
Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience
Authors: Popova-Labachevska M , Panovska-Stavridis I , Eftimov A , Kapedanovska Nestorovska A , Cevreska L , Ivanovski M , Ridova N , Trajkova S , Dimovski AJ
Published: December 2019

The identification of the JAK2V617F mutation in several distinct myeloproliferative neoplasms (MPNs) raised the question how one single mutation incites expression of at least three different clinical phenotypes, i.e., polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In order to further evaluate already published data on the correlation between mutant JAK2V617F allele burden and specific hematological and clinical parameters, we tested the level of the JAK2 mutation in 134 JAK2+ patients with different MPNs. The patients were diagnosed according to the 2008 WHO criteria and followed for a median of 48 months. The JAK2 V617F quantification was done with a real time polymerase chain reaction (real time-PCR) method. The median allele burden was lowest in ET (25.8%), followed by 34.6% in PV and 51.8% in PMF patients (p<0.01). There was statistically significant association between the mutational load of 10.0-50.0% and blood count parameters in the PV patients (p<0.05). In PMF patients the mutational load was in correlation with older age and leukocyte count that were higher in patients with the mutational load of 10.0-50.0% and >50.0% compared to those with a mutational load of <10.0%. There were no statistically significant associations between the allele burden and blood counts in the ET cohort. Our study confirmed an association between the JAK2V617F allele burden and the distinct MPN phenotypes, indicating unfavorable prognosis in patients with a higher JAK2 allele burden. Our results suggest that JAK2 quantification should be incorporated in the diagnostic work-up of MPN patients as a useful tool for optimal treatment decision.
Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis
Authors: Kocova M , Plaseska-Karanfilska D , Noveski P , Kuzmanovska M
Published: December 2019

Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly characterized patients from the Republic of North Macedonia (RN Macedonia) with a different clinical course due to the time of the diagnosis. Diagnosis of Patient 1 was based upon the detection of bilateral inguinal testes and testosterone/dihidrotestosterone ratio. Sex reversal was initiated by testes removal at the age of 20 months. Breast implantation and vaginoplasty were performed in adolescence and the girl is comfortable with the female sex. Her sibling, Patient 2, raised as a girl, was clinically assessed at 11.5 years due to the growth of phalus, deep voice and Adam’s apple enlargement. No change of gender was accepted. Complex molecular analysis including multiplex quantitative fluorescent polymerase chain reaction (PCR) screening for sex chromosome aneuploidies and SRY presence, Sanger sequencing combined with multiplex ligation-dependent probe amplification (MLPA), microarray-based comparative genomic hybridization (aCGH), and real-time PCR analysis for detection of exon copy number changes confirmed a novel c.146C>A (p.Ala49Asp) point mutation in the first exon inherited from the mother, and complete deletion of the first exon and adjacent regions inherited from the father. Novel genotype causing 5-ARD is presented. Genetic analysis is useful for the diagnosis and timely gender assignment in patients with 5-ARD. However, final gender assignment is difficult and requires combined medical interventions.
Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia
Authors: Zarina A , Tolmane I , Krumina Z , Tutane AI , Gailite L
Published: December 2019

Wilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipzig’s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)
Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings
Authors: Joksic I , Cuturilo G , Jurisic A , Djuricic S , Peterlin B , Mijovic M , Karadzov Orlic N , Egic A , Milovanovic Z
Published: December 2019

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM_ 001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.
TWIST1 Gene expression as a biomarker for predicting primary doxorubicin resistance in breast cancer
Authors: Demir S , Müslümanoğlu MH , Müslümanoğlu M , Başaran S , Çalay ZZ , Aydıner A , Vogt U , Çakır T , Kadıoğlu H , Artan S
Published: December 2019

Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin.
Molecular basis of inherited colorectal carcinomas in the Macedonian population: An update
Authors: Staninova-Stojovska M , Matevska-Geskovska N , Panovski M , Angelovska B , Mitrevski N , Ristevski M , Jovanovic R , Dimovski AJ
Published: December 2019

Hereditary factors are assumed to play a role in ~35.0-45.0% of all colorectal cancers (CRCs) with about 5.0-10.0% associated with high penetrant disease-causing mutations in genes correlated to hereditary polyposis (HP) or hereditary non polyposis syndromes (HNPCC). Although inherited germline mutations in mismatch repair (MMR) and the APC genes contribute significantly to CRC, genetic diagnosis cannot yet be obtained in more than 50.0% of familial cases. We present updated data of 107 probands from the Macedonian population with clinically diagnosed HP (n = 41) or HNPCC (n = 66) obtained by next generation sequencing (NGS) with three different gene panels covering the coding, flanking and promoter regions of 114 cancer predisposition genes. Using this approach, we were able to detect deleterious mutations in 65/107 (60.7%) patients, 50.4% of which were in known well-established CRC susceptibility genes and 10.2% in DNA repair genes (DRG). As expected, the highest frequencies of deleterious variants were detected in familial adenomatous polyposis (FAP) and in HNPCC patients with microsatellite instability (MSI) tumors (93.8 and 87.1%, respectively). Variants of unknown significance (VUS) were detected in 24/107 (22.4%) patients, mainly in HNPCC patients with microsatellite stable (MSS) tumors or patients with oligopolyposis. The majority of VUS were also found in DRG genes, indicating the potential role of a doble-strand brake DNA repair pathway deficiency in colorectal cancerogenesis. We could not detect any variant in 18/107 (16.8%) patients, which supports the genetic heterogeneity of hereditary CRC, particularly in HNPCC families with MSS tumors and in families with oligopolyposis.
Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation
Authors: Maver A , Čuturilo G , Ruml Stojanović J , Peterlin B
Published: December 2019

Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of disorders. We describe a case of a girl with secondary microcephaly, associated with severe developmental delay, intellectual disability, growth retardation and dysmorphic features. For purposes of clinical genetic diagnostic testing, we performed trio whole exome sequencing in the proband and unaffected parents. We found a heterozygous de novo missense variant in the H3F3A gene in the proband (NM_ 002107.4: c.185T>G), which is absent from the gnomAD and from the Slovenian Genome databases. The identified variant affects a highly conserved leucine residue at position 62 of the histone H3 protein (H3.3) and is predicted to affect the physicochemical properties of the affected protein. Mouse models, which demonstrated involvement of H3.3 protein in the control of neuronal- and glial-specific gene expression patterns that control synaptic connectivity and behavioral plasticity. Additionally, we also identified similar cases reported in the ClinVar database. These arguments support the possible pathogenic role of the reported genetic variant and thus suggest a novel molecular mechanism for this syndromic form of microcephaly.
Hedonic Pricing Model for Real Property Valuation via GIS - A Review
Authors: Aladwan Zubeida , Ahamad Mohd Sanusi S.
Published: December 2019

Hedonic pricing models in real property valuation have been frequently applied in many research studies and projects since it was introduced by Rosen in 1974. The development of Geographic Information Systems (GIS) in the recent decades has gradually supports the usage of hedonic model in the spatial data pricing model studies. Beside the basic advantages of GIS to position properties in terms of their geographic coordinates, it has the capabilities of dealing with reasonable amount of data, and wide choices of analysis that make it powerful tool to facilitate the building and implementation of the hedonic models within its framework. Many studies have employed GIS in real property valuation in their present work and for the future prediction. This paper reviews the works of literature on the GIS applications in the real property valuation employing the hedonic pricing models.
Vibration Analysis of Kenyir Dam Power Station Structure Using a Real Scale 3D Model
Authors: Arbain Azizi , Ahmad Mazlan Ahmad Zhafran , Zawawi Mohd Hafiz , Mohd Radzi Mohd Rashid
Published: December 2019

In this paper, the vibration analysis in terms of modal and harmonic responses are investigated for the power station structure of Kenyir Dam in Terengganu, Malaysia. Modal analysis is carried out to provide the dynamic characteristics of the power station which includes the natural frequencies and mode shapes. Meanwhile, the harmonic response analysis is performed by applying the force to the structure to obtain the Frequency Response Function (FRF) in certain range of frequencies. A real scale three-dimensional (3D) model of the Kenyir Dam power station is constructed using SolidWorks software and imported to ANSYS software for the Finite Element (FE) analysis. A proper boundary condition is taken into consideration to demonstrate the real behaviour of the power station structure. From the results, six most significant natural frequencies and mode shapes including the FRF in all three axes are selected. The highest natural frequency value occurred at 5.4 Hz with the maximum deflection of 0.90361 m in the z axis direction. This value is important in order to verify whether the structure can overcome the resonance phenomenon from the external disturbance forces in the future.
The Performance of Extracellular Polymeric Substance (EPS) on Stability of Aerobic Granular Sludge (AGS)
Authors: Hamiruddin NA , Awang NA , Shaaban MG
Published: December 2019

Various article which indicating the Aerobic granular sludge (AGS) instability, particularly in prolonged phase operating duration become a significant obstacle to its implementation. Generally, prolonged the operation period will lost its stability that can degrade performance effectiveness. As AGS stabilization in hydrodynamic shear force and resisting mass transfer resistance within the reactor generally defined or evaluated by microbial community, bioactivity, extracellular polymeric substance (EPS) structure and granular aspect. The aim of this research in order to illustrate the EPS formation on AGS which is preserved at 4°C in sequencing batch reactor (SBR) by sewage for eight months. The effective of granulation method and redevelopment of AGS stability by particular pressure produced with several hydrodynamic shear force and mass transfer resistance which controlled by low organic loading rate (OLR) between 0.26 and 0.81 kg CODs/m3 d with 1.33 cm/s of superficial air velocity (SAV). The confocal laser scanning microscope (CLSM), Fourier transform infrared (FTIR), and energy dispersive X-ray spectrometer (EDX) were implemented to notice the evolution in composition of EPS that revealed the intermolecular interaction helped the aerobic granule stability as seed to achieved the performance of EPS on stability of AGS.
The Effectiveness of Gas Recovery Systems for Managing Odour from Conventional Effluent Treatment Ponds in Palm Oil Mills in Malaysia
Authors: Chung Andrew Yap Kian , Qamaruz Zaman Nastaein , Yaacof Nurashikin , Yusoff Syafinah , Abd. Manaf Fatah Yah , Mohamed Halim Rohaya , Abd. Majid Rusnani
Published: December 2019

Gas recovery systems at palm oil mills enable the curtailment of uncontrolled greenhouse gas emissions from open anaerobic pond, but can also reduce odour, an aspect which has not yet been substantiated. The objective of this study is to evaluate the odour emission from palm oil mill effluent and the effectiveness of covers and tank digester in reducing odour emission from the open lagoons. Odour samples were obtained from the cooling ponds in conjunction with in-field odour assessment performed on site. Results demonstrated that odour released from open ponding or covered lagoon were almost comparable, ranging from 33,150 – 162,000 OU/m3, and 68,705 – 102,000 OU/m3, respectively. In contrast, odour emission from cooling pond which used tank digester system seemed markedly lower, ranging between 13,000 – 76,000 OU/m3. In fact, the analysis of ambient air close to anaerobic tank digesters proved a reduction of odour emission to the surroundings (with 3.5 OU/m3, weak intensity) compared to open pond (with 2700 OU/m3, strong intensity) or covered lagoon (with 111 OU/m3, distinct intensity). In conclusion, gas recovery systems at palm oil mills should be promoted not only towards the management of greenhouse gaseous, but also as an odour impact management strategy.
Rare Weather Phenomena and the Work of Large-Format Roof Coverings
Authors: Ksit Barbara , Szymczak-Graczyk Anna
Published: December 2019

Wind action belongs to loads that are environmentally variable. Wind action is included in the basic combination of loads, whereas hurricane wind action is classified as a unique combination. Due to large gusts of wind, the roof coverings of large-scale buildings are exposed to detachment of their cover layer. The article presents the effects of over-normative wind, which occurred on January 19, 2018 and was named the cyclone Frederic/David. The purpose of the article is to show that in design of roof coverings made of large-format materials, such as membranes, it is crucial to accept wind load values properly in order to ensure a right spacing between fasteners. The presented results might be an important contribution to the debate on the necessity for increasing the fundamental value of the basic wind velocity in the perimeter and corner zones of large-format roofs.
Predicting Changes of the State of a Bridge Reinforced with Concrete Superstructures in View of Operational Changes
Authors: Ovchynnykov Pavlo , Dubinchyk Olha , Tiutkin Oleksii , Kildieiev Vitalii , Sedin Volodymyr , Bikus Kateryna
Published: December 2019

To solve the problem of predicting the service life of superstructures, this work proposes the basis and methodological developments of creep theory with increasing loads as well as regression analysis of the results of laboratory experiments. The main limitation in terms of reinforcement is corrosion in the concrete cracks, which was determined during laboratory experiments. Based on the results, the approximate analytical dependences concerning reinforcement corrosion depth change over time at a constant value of crack width were selected. The paper substantiates the validity of the analytical dependences as a result of regression analysis; it proposes formulae for determining the corrosion rate of rebars in reinforced concrete superstructures. The obtained analytical dependences allowed for the developing of a process for predicting changes to the state of the superstructure in light of operational changes.
Seismic Performance Evaluation of a Proposed Buckling-Restrained Brace for RC-MRFS
Authors: Ebanesar Arunraj , Cruze Daniel , Noroozinejad Farsangi Ehsan , Seenivasan Vincent Sam Jebadurai , Mohammad Adil Dar , Abdul Rashid Dar , Gladston Hemalatha
Published: December 2019

This paper presents a novel buckling-restrained brace (BRB) where the inner core is restrained by a concrete infilled Expanded Polystyrene Sheet (EPS) instead of the conventional concrete infilled tube section, to resist inner core buckling. It serves two purposes, firstly, the EPS is a ductile material, which is favourable in terms of seismic performance and, secondly, the outer construction material has better corrosion resistance. Thus, the life of the steel core can be prolonged. In this study, 6 BRB specimens were prepared, of which 3 BRB specimens were infilled with concrete and the remaining 3 BRB specimens with concrete and EPSs, in order to study their performance under cyclic loading. Three different core heights, all with the same core thickness, were adopted. The test results indicate that the load-carrying capacity of this novel BRB is higher than the conventional BRB. Further, the length of the steel tube also affects the strength of the seismic disaster mitigation system. Lastly, a numerical study on a single bay RC frame, with and without BRB subjected to time history analysis, was conducted to check the global performance of this novel system. It was found that the structural responses had substantially decreased.
Impact of Water Quality on Concrete Mix and Hardened Concrete Parameters
Authors: Kokoszka Wanda
Published: December 2019

The subject of the present article is the evaluation of the use of different water types in the production of concrete mix and C20/25 class concrete (assuming the same composition). Taking as an example a selected Subcarpathia-based concrete production plant, equipped with a process water management system, the research analysed the quantity-quality parameters of drinking water, sewage water, and groundwater and evaluated them for their accordance with mixing-water quality standards. It should be emphasised that the majority of specifications recommend the use of drinking water for concrete production. The paper presents the results of research which analysed the impact of water quality on selected properties of concrete mix and concrete (consistency; compressive strength after 7, 14, and 28 days; density). The results obtained confirmed the findings of the research on the suitability of recycled water for concrete production.
Adsorptive Solar Refrigerators Based on Composite Adsorbents ’Silica Gel – Sodium Sulphate’
Authors: Belyanovskaya Elena A. , Pustovoy Grigoriy N. , Sukhyy Kostyntyn M. , Sergiyenko Yana O. , Yeromin Oleksandr O. , Prokopenko Elena M. , Gubinskyi Mikhailo V. , Kizek Ján , Lukáč Ladislav
Published: December 2019

The operation processes of adsorptive solar refrigerators based on composite adsorbents ‘silica gel - sodium sulphate’ were studied. The correlation between the adsorbent composition and the coefficient of the energy performance of the device was stated. As a consequence of the decreasing of adsorbent mass, the coefficient of performance is increased when sodium sulphate content in the composite increased. Effect of the regeneration process parameters on the composite on the coefficient of performance of the adsorptive refrigenerator was stated. The growth of the coefficient of performance is shown to result from decreasing the difference between adsorbent temperature and regeneration temperature from 85 to 55°C. The maximum values of the coefficient of performance of studied solar adsorptive refrigenerator about of 1.14 are stated for composites containing about 20 wt. % silica gel and 80 wt. % sodium sulphate.