bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Republic of Macedonia
Authors: Stefanovska Emilija Sukarova , Bozhinovski Gjorgji , Momirovska Ana , Cakar Marina Davceva , Sukarova-Angelovska Elena , Plaseska-Karanfilska Dijana 
Published: May 2018

Abstract
Hearing impairment is the most common sensory disorder, which occurs in 1 of 1000 newborns. It is caused by heterogeneous conditions with more than a half due to genetic etiology. Although hundreds of genes are implicated in hearing process and have been found to be associated with nonsyndromic hearing loss, pathogenic variants in GJB2 gene have been considered as the main cause of deafness among nonsyndromic hearing loss (NSHL) population worldwide. Pathogenic variants in MT-RNR1 or mtDNA12SrRNA gene were also implicated predominantly in postlingual progresive deafness.
The aim of this study was to analyze the implication of GJB2 and MT-RNR1 genes in the molecular etiology of deafness among 130 NSHL patients in the Republic of Macedonia. The presence of the del (GJB6-D13S1830) was also analysed. We performed SSCP and/or sequence analysis of GJB2 and identified sequence variants in 62 out of 130 patients (47.7%); (51 homozygous or compound heterozygous and 11 with only one variant allele). We found 8 different allelic variants, the most prevalent being c.35delG (65.49%), and p.W24*(23.01%), followed by other less frequent alleles (p.V27I, p.V37I, p. P175T and cd. delE120 or delGAG at 360). In addition, two polymorphic substitutions in the GJB2 gene with no clinical significance (p.V153I and p.R127H) were detected. No del(GJB6-D13S1830) was found.
SNaPshot analysis was used to screen for the five most frequent allelic variants in the MT-RNR1 gene. Two MT-RNR1 mutations (A827G and T961G) were detected in three patients where only one GJB2 pathogenic variant was found. A new MT-RNR1 gene variant G1303A was also detected.
In conclusion, MT-RNR1 mutations were not a significant contributor to the etiology of deafness in Macedonia, although could be considered as a modifier gene affecting the expression of deafness in patients carrying one GJB2 variant. On the other hand, the high percenttage of GJB2 pathogenic variants identified among NSHL cases indicates the necessity of molecular newborn screening for the two most common GJB2 variants (c.35delG and p.W24*) in the Republic of Macedonia.
FLAG-IDA, Possible Breakthrough in Treatment of Refractory Acute Myeloid Leukemia in the Context of Hematopoietic Stem Cell Transplantation: Single Center Experience
Authors: Chadievski Lazar , Stavric Sonja Genadieva , Veljanovska Aleksandra Pivkova , Stojanoski Zlate , Miloska Dijana , Cevreska Lidija , Georgievski Borce 
Published: May 2018

Abstract
Introduction. Acute myeloid leukemia (AML) represents an entity well defined among the hematological malignnant diseases from diagnostic and therapeutic point of view. Still, big concern remains for those patients where the induction therapy fails. Classified in the group of refractory AML these patients are with poor prognosis. There are numerous attempts in providing the best surviving results by administration of appropriate therapy. Our center presents its experience in treating patients with refractory AML by administration of FLAG-Ida regimen, followed by hematopoietic stem cell transplanttation, autologous or allogeneic, depending on the availability of HLA matched sibling donor of hematopoietic stem cells.
Methods. In patients with refractory AML, administering FLAG-Ida chemotherapy we have achieved complete remission in 22 patients (47%). Average age of the treated group of patients was 36.6 years (17-53). All of them proceeded to high-dose chemotherapy and underwent hematopoietic stem cell transplantation (HSCT). We performed autologous HSCT in 13 patients, and allogeneic HSCT in 9 patients. Median time to HSCT was 6.6 months (4-10), and in most of the patients we used myeloablative conditioning (MAC).
Results. The disease-free survival in our group of patients is 74 months (22-148). The longest overall survival was 148 months and was registered in a patient with allogeneic sibling HSCT. We can conclude that FLAG-Ida regimen is an appropriate and suitable salvage chemotherapy protocol for patients with refractory AML especially when it is used in the context of preparation for HSCT.
Role and Clinical Significance of Il-33 in Patients with Asthma
Authors: Janeva Elena Jovanovska , Gjorchev Angelko , Kaeva Biserka , Breskovska Gorica , Goseva Zlatica , Zdraveska Marija , Dimitrievska Deska , Arsovski Zoran , Pejkovska Sava , Minov Jordan , Trajkov Dejan , Dimitrova Magdalena Genadieva , Zafirova Beti 
Published: May 2018

Abstract
Introduction. Asthma is a chronic inflammatory disease of the airways in which many cells play a role with secreting a variety of mediators responsible for the clinical manifestation of asthma. It is assumed that IL-33 is one of the earliest-released mediators and can orchestrate the immune cascade of the disease.
The aim of this study was to examine the role and clinical significance of IL-33 as a new and insufficiently explored mediator of inflammation in patients with uncontrolled moderate asthma.
Methods. The study included 87 patients with asthma. Serum IL-33 was measured in all patients by ELISA method. The obtained data were statistically analyzedusing the Kolmogorov-Smirnov and Shapiro-Wilk's test. Qualitative data were presented in absolute and relative numbers, and quantitative data were presented with measures of descriptive statistics. Statistically significant values were considered forp <0.05.
Results. Majority of included patients were female (75.86%). The average age of patientswas 42.3±15.9 years. The results of IL-33 in all patients were significantly increased compared to the reference value of IL-33 which is 0pg/ml. The average values of IL-33 ranged from 6.47±29.3 and they were insignificantly higher in the group with female patients compared to males (p=0.27), and insignificantly correlated with age (p=0.26).
Conclusion. Even though a limited number of studies haveexplored the IL-33, results have shown higher serum level of IL-33 in asthma patients compared to healthy people, emphasizing the factthat IL-33 is an attrac tive candidate for targeted therapy and prognosis inasthma patients.
Ml28133 -A Multicenter, Open-Label, Long-Term Extension Study of WA 19926 to Describe Safety During Treatment with Tocilizumab in Patients with Early, Moderate to Severe Rheumatoid Arthritis
Authors: Kafedziska Irena , Mishevska-Perchinkova Snezhana , Antova Dubravka , Nikolova Mimoza Kotevska , Stojanovska Anzhelika , Guchev Filip 
Published: May 2018

Abstract
Introduction. Biologic DMARDs (Disease Modifying Anti Rheumatic Drugs) have shown to be effective in the treatment of rheumatoid arthritis (RA) resistant to the use of synthetic DMARDs. The primary goal of this study wasto assess the long-term safety of the use of tocilizumab in patients with early rheumatoid arthritis, moderate to severe disease activity. The secondary goal was to assess the efficiency of tocilizumab in achieving and maintaining clinical remission of the disease.
Methods. ML28133 is a long-term, extended study of 13 patients with rheumatoid arthritis treated with tocilizumab. Two patients were male (15.4%), 11(84.61%) female. The average age of patients was 53.27+/−10.68. Patients received 8mg/kg tocilizumab i.v. every four weeks, 104 weeks overall. Safety was assessed following side effects, blood tests, physical examination and vital signs. Efficiency was assessed by achieving and maintaining clinical remission according to DAS28 (Disease Activity Score 28), global assessment of disease activity, VAS score and HAQ-DI (Health Activity Score) questionnaire.
Results. Incidence of side effects was 76.92%. Infections were of special interest and were most common (15.3%). Four patients had serious adverse events, three of which associated with tocilizumab, and therapy was stopped. In 11 (84.6%) of the 13 treated patients clinical remission was achieved at times. At the end of the study, 8 out of 9 patients were in remission.
Conclusion. The results have shown significant therapeutic effect of tocilizumab even in the most severe forms of the disease, which gives hope for its use as a monotherapy.
Case Report of Feminizing Genital Reconstruction in a Female with Congenital Adrenal Hyperplasia
Authors: Noveski Lazo , Ginoski Vladimir , Dzonov Boro , Mircevska Elizabeta Zogovska 
Published: May 2018

Abstract
Introduction. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. In approximately 90-95% of the CAH cases, it is a deficiency of the enzyme steroid 21-hydroxylase. The degree of enzyme insufficiency determines the severity of the disease. In the simple virilizing type of CAH dominant symptoms are virilization in girls and precocious puberty in boys. Virilizing type of CAH is the most common etiology of ambiguous genitalia in women. There are several options for surgical reconstruction of such anomalies, which must always be optimized to the patient’s anatomy, to achieve a good esthetic and functional result.
Detailed presentation of the case. The paper presents the case of a 36-year old woman with delayed pediatric diagnosis of simple virilizing type of CAH, due to deficiency of 21-hydroxylase, pronounced phenotypic virilization, clitoromegaly, hyperpigmentation of the external genitalia, vaginal hypoplasia and existence of low confluence of the urethra with the vagina in so called low type of urogenital sinus andbilateral micromastia, also called mammary hypoplasia. The patient underwent augmention mammoplasty, clitoroplasty, reduction of clitoral hood and proximal labioplasty.
Discussion. CAH is a continuum of disorders, affecting patients throughout the life. Feminizing genitoplasty includes three parts: clitoroplasty, labioplasty and vaginoplasty. Clitorectomy in modern times is unacceptable option.
Conclusion. Surgical management and reconstruction in women with simple virilizing type CAH and ambiguous genitalia remains still controversial and emotionally laden area in reconstructive surgical activity and requires a team approach.
High temperature thermoelectric properties of PbTe prepared by high pressure method
Authors: Fan Haotian , Su Taichao , Li Hongtao , Zheng Youjin , Li Shangsheng , Hu Meihua , Ma Hongan , Jia Xiaopeng 
Published: May 2018

Abstract
Highly dispersed olive-like NiS particles were synthesized in a liquid-liquid biphasic system at room temperature, where nickel xanthate in organic solvents (toluene and benzene) and sodium sulfide in water solution were used as nickel and sulfide sources, respectively. NiS particles were formed at the stabilized phase interface. The structures, chemical composition and optical characteristics of the products were investigated by transmission electron microscopy, scanning electron microscopy, X-ray photoelectron spectroscopy and ultraviolet-visible spectroscopy. The organic solvents obviously influenced the morphology of the NiS particles. The olive-like NiS with smooth surface and sharp ends was obtained at benzene/water interface, while spindle-like NiS particles with rough surface and circle ends were formed when using toluene as a solvent. Analogously, chainlike Bi2S3 nanowires were produced at chloroform/water interface. The effect of the experiment parameters including reaction time, solvent and concentration of reactants on the size and morphology of the products was discussed in detail and a possible formation mechanism was suggested.
Reactive bay functionalized perylene monoimide-polyhedral oligomeric silsesquioxane organic electronic dye
Authors: Wangatia Lodrick Makokha , Sun Bin , Zeng Ting , Zhu Meifang 
Published: May 2018

Abstract
Aggregation-induced quenching is particularly detrimental in perylene diimides, which are characterized by a near-unity fluorescence quantum yield in solution but are far less emissive in the solid state. Previously, perylene diimide has been improved by linking it to the inorganic cage of polyhedral oligomeric silsesquioxanes. As a further study on perylene diimidepolyhedral oligomeric silsesquioxanes, we report on a double functionalized molecular structure, which can be used for substitution at the bay area and as a side group in other materials. Typical solution absorption and emission features of the perylene diimide fragment have been observed in this new reactive perylene diimide-polyhedral oligomeric silsesquioxane. Moreover, reduced stacking during aggregation and spherical particles exhibiting solid fluorescence have been obtained. Organic semiconducting material with enhanced solid state photophysical properties, like solid fluorescence is a subject of great interest owing to its possible high-tech applications in optoelectronic devices.
Effect of fabrication technique on the crystalline phase and electrical properties of PVDF films
Authors: Mahato P. K. , Seal A. , Garain S. , Sen S. 
Published: May 2018

Abstract
The effect of different fabrication techniques on the formation of electroactive β-phase polyvinylidene fluoride (PVDF) has been investigated. Films with varying concentration of PVDF and solvent - dimethyl formamide (DMF) were synthesized by tape casting and solvent casting techniques. The piezoelectric β-phase as well as non polar β-phase were observed for both the tape cast and solvent cast films from X-ray diffraction (XRD) micrographs and Fourier transform infra-red spectroscopy (FT-IR) spectra. A maximum percentage (80 %) of β-phase was obtained from FT-IR analysis for a solvent cast PVDF film. The surface morphology of the PVDF films was analyzed by FESEM imaging. The dielectric properties as a function of temperature and frequency and the ferroelectric hysteresis loop as a function of voltage were measured. An enhancement in the value of the dielectric constant and polarization was obtained in solvent cast films.
An Analytical Model for Prediction of Magnetic Flux Leakage from Surface Defects in Ferromagnetic Tubes
Authors: Suresh V. , Abudhahir A. 
Published: May 2018

Abstract
In this paper, an analytical model is proposed to predict magnetic flux leakage (MFL) signals from the surface defects in ferromagnetic tubes. The analytical expression consists of elliptic integrals of first kind based on the magnetic dipole model. The radial (Bz) component of leakage fields is computed from the cylindrical holes in ferromagnetic tubes. The effectiveness of the model has been studied by analyzing MFL signals as a function of the defect parameters and lift-off. The model predicted results are verified with experimental results and a good agreement is observed between the analytical and the experimental results. This analytical expression could be used for quick prediction of MFL signals and also input data for defect reconstructions in inverse MFL problem.
Determination of Relationship between Dielectric Properties, Compressive Strength, and Age of Concrete with Rice Husk Ash Using Planar Coaxial Probe
Authors: Piladaeng Nawarat , Angkawisittpan Niwat , Homwuttiwong Sahalaph 
Published: May 2018

Abstract
This paper deals with an investigation of the dielectric properties of concretes that includes rice husk ash using a planar coaxial probe. The planar coaxial probe has a planar structure with a microstrip and coaxial features. The measurement was performed over the frequency range of 0.5-3.5 GHz, and concrete specimens with different percentages of rice husk ash were tested. The results indicated that the dielectric constant of the concretes was inversely proportional to the frequency, while the conductivity was proportional to the frequency. The dielectric constant decreased with the increasing age of the concrete at the frequency of 1 GHz. The conductivity of the concrete decreased with the increasing age of the concrete at the frequency of 3.2 GHz. In addition, the dielectric constant and the conductivity decreased when the compressive strength increased. It was also shown that the obtained dielectric properties of the concrete could be used to investigate the relationship between the compressive strength and age of the concrete. Moreover, there is an opportunity to apply the proposed probe to determine the dielectric properties of other materials.
The Effect of the Combination of Different Methods of Stock Analysis on Portfolio Performance
Authors: Trančar Vesna 
Published: May 2018

Abstract
The literature that examines the stock analysis is often faced with the same questions: Which stock analyses should be chosen and which indicators of individual stock analyses give the best information on whether a particular stock should be included in the portfolio? How many indicators and which combination of indicators should you choose to forecast future stock prices as accurately as possible? Can investors use stock analyses to create such a portfolio to meet the investment expectations? The main purpose of this article is to use theoretical methodology to determine whether the use of a combination of indicators from different stock analyses has a positive impact on the profitability of the portfolio.
Thermal-hydraulic analysis of LTS cables for the DEMO TF coil using simplified models
Authors: Lewandowska Monika , Dembkowska Aleksandra 
Published: May 2018

Abstract
The conceptual design activities for the DEMOnstration reactor (DEMO) – the prototype fusion power plant – are conducted in Europe by the EUROfusion Consortium. In 2015, three design concepts of the DEMO toroidal field (TF) coil were proposed by Swiss Plasma Center (EPFL-SPC, PSI Villigen), Italian National Agency for New Technologies (ENEA Frascati), and Atomic Energy and Alternative Energies Commission (CEA Cadarache). The proposed conductor designs were subjected to complete mechanical, electromagnetic, and thermal-hydraulic analyses. The present study is focused on the thermal-hydraulic analysis of the candidate conductor designs using simplified models. It includes (a) hydraulic analysis, (b) heat removal analysis, and (c) assessment of the maximum temperature and the maximum pressure in each conductor during quench. The performed analysis, aimed at verification whether the proposed design concepts fulfil the established acceptance criteria, provides the information for further improvements of the coil and conductors design.
The Sports Participation: From Research to Sports Policy
Authors: Puig Núria 
Published: May 2018

Abstract
The aims of this paper are the following: 1. To provide an overview of the fundamental aspects to be taken into account when carrying out and interpreting sports participation surveys; 2. To put forward an explanation of sports behavior; and 3. To suggest how these results may be used in intervention programs. Having gone over the literature in this field, I shall go on to address the following points: the definition of sports; trend analysis or the illusion of transparency; analysis of inequalities; identifying difference and individualization; and examining typologies to better understand each social group. I shall conclude with suggestions for sports policies.
The Youth Soccer Coaches’ Visions and Thoughts of Leader Support
Authors: Hertting Krister , Kostenius Catrine 
Published: May 2018

Abstract
The Objectives: The European Commission has highlighted the use of sports as an important venue for engaging citizens in health-enhancing activities, physical activity, volunteerism and active citizenship. Coaching is a central component of sports for children and youth, but there is little research on the promotion of sports coaches’ health. In the light of this gap, the aim of this paper was to elucidate youth soccer coaches’ visions and thoughts regarding leadership support from clubs and soccer associations.
Design and method: The study was based on an online questionnaire conducted with Swedish soccer coaches who coached children and young people between 6 and 18 years of age. In total, 1514 coaches received the online questionnaire via email and 764 coaches (50.5% of the sample) answered. Three hundred and seventy-five coaches answered the open question: ‘How would you describe the support you, as a coach, would like to receive from clubs and associations?’ Responses were analysed using method.
Results: Four main themes emerged from the analysis: financial and other resources support, recognition of contribution, sense of belonging to a value-based association and positive coach development.
Conclusion: We discuss the factors that support soccer coaches and how these can serve as health-promoting supports for coaches working with children and youth.
Assessment of the Influence of Cervical Spine Traction on the Change of Heart Hemodynamic Parameters
Authors: Myśliwiec Andrzej , Saulicz Edward , Kuszewski Michał , Klapuch Michał 
Published: May 2018

Abstract
Background: The vast majority of pain dysfunctions of the cervical spine is underlain by prolonged overload and one effective therapy is traction. The aim of this study is to assess the influence of cervical spine traction on changes in heart rate and arterial blood pressure in people with arterial hypertension and normotension.
Material/Methods: The study involved a total of 168 patients, in whom chronic cervical spine pain syndrome of low intensity, with no radiation of symptoms and with no significant functional limitations occurred. The subjects were intentionally allocated into a group with arterial hypertension and a group with normotension.
Results: The analysis of the obtained results showed that cervical spine traction does not strain the cardiovascular system. In the group of subjects with arterial hypertension, a linear value reduction of all the heart hemodynamic parameters measured in the successive trials was observed. The most significant difference between the initial and final test was observed in patients, in whom the traction procedure was only simulated.
Conclusions: Cervical spine traction performed according to D. Saunders’ method does not constitute any threat to patients with arterial hypertension.
Results of the commercialisation of scientific research in the light of experience gained at the Nicolaus Copernicus University Centre for Technology Transfer
Authors: Matlakiewicz Paweł , Matuszak Piotr , Grodzicki Grzegorz 
Published: May 2018

Abstract
The statutory mission of a university, in addition to the creation of scientific knowledge and education, lies in the cooperation with the economic sector through the transfer of knowledge and technology. The effectiveness of this process directly affects the affluence of any given State’s economy. Owing to the new amendments to the Act on Higher Education, many barriers that hinder commercialisation of knowledge in Poland have been brought down. Nicolaus Copernicus University in Toruń sets an excellent example in this respect having established a special purpose entity, which has already managed to set up thirteen spin-off companies in just 18 months.
How Czech supervisors engage in the supervisory process on sexual attraction and strategies used to supervise sexual attraction in the work of supervisees
Authors: Kolařík Marek , Lečbych Martin , Luca Maria , Markovic Desa , Fülepová Martina 
Published: May 2018

Abstract
Our study investigated how Czech supervisors understand, engage with and supervise therapists in handling sexual attraction. Qualitative interviews were carried out with 13 volunteers in the Czech Republic. Transcripts were analysed using constructivist grounded theory (GT). Findings show that in reflecting on their experience as supervisors, participants stepped into their experience as therapists first. Data shows various factors mediating and influencing the supervision process: the historical and political impact of sexual tabooism and sexual attraction in training and practice; supervisors’ personal experience of sexual attraction provoked shame; gender and trust impact on which supervisor to choose; male and female differences in supervisory needs; and a clear contract facilitates disclosure of sexual attraction.