bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

Abstract
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

Abstract
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

Abstract
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

Abstract
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.
Catch-and-Release Ice Fishing with a Mormyshka for Roach (Rutilus rutilus) and European Perch (Perca fluviatilis)
Authors: Czarkowski Tomasz K. , Kapusta Andrzej 
Published: December 2019

Abstract
This study examined and described the basic parameters of the catch-and-release angling of roach Rutilus rutilus and European perch Perca fluviatilis with the mormyshka technique. Catch efficiency, the size of the fish caught, the time required to unhook the fish and the total time during which the fish were handled, hooking location, the occurrence of injury and initial hooking mortality were determined. The study indicates that the mormyshka technique is an effective way to catch roach and European perch when ice fishing. The efficiency of the catches and landings was similar for barbed and barbless hooks. The mormyshka technique also proved to be safe for the fish during catch-and-release fishing. The decided majority of fish were hooked shallowly on the upper jaw, which is a safe location, and injury occurred rarely regardless of the hook type. Generally unhooking the fish from the mormyshka hook was seamless and fish handling was brief. Additionally, when roach were caught with barbless hooks, unhooking time and handling was shorter than it was with barbed hooks. No initial hooking mortality was observed in roach, while it occurred in only two specimens of European perch.
Sublethal Cobalt Toxicity Effects on Rainbow Trout (Oncorhynchus mykiss)
Authors: Nasri Fereshteh , Heydarnejad Saeed , Nematollahi Amin 
Published: December 2019

Abstract
The purpose of this study was to investigate the sublethal Co toxicity on rainbow trout (Oncorhynchus mykiss). Trout were exposed to Co and selected parameters were evaluated at intervals of 1, 15 and 30 days. Fish exposed to higher levels of Co grew slower than fish exposed to lower levels of Co. Weight gain, specific growth rate (SGR) decreased linearly with the increase of cobalt in the water. The body condition factor (CF) of fish reared in water with low cobalt concentration decreased substantially but this decrease was not significant for fish exposed to higher cobalt concentration. The values of the feed conversion ratio (FCR) increased in fish exposed to higher levels of Co. Co significantly changed the activity of aspartate aminotransferase (AST) and alanine aminotransferase (ALT) and decreased at day 30, and in both cases this decrease was more remarkable at day 15 so that the level of AST and ALT reached the control value at day 30. The alkaline phosphatase (ALP) level also showed a remarkable 15-day decline. There was a significant increase in glucose (G) concentration in both Co-exposed groups on day 15. However, serum cholesterol (Chl) was significantly reduced on day 15 and increased on day 30; there were no significant differences in both exposed Co-groups. The triglyceride (TG) level also decreased substantially. There was no regular pattern of total protein (TP) in the serum, so that no significant differences were found in the level of TP between low and high-exposed fish. In summary, this study suggests that exposure of essential trace elements such as cobalt may change growth and biochemical parameters, and that measurement of these parameters may be used in toxicological studies to determine the general health status of fish.
Update of Ichthyofauna and its Conservation Status in the Aghien Lagoon, Côte d’Ivoire
Authors: Konan Koffi Félix , Assi Sonan Romuald , Boussou Koffi Charles , Gourène Germain 
Published: December 2019

Abstract
This study focused on the diversity of fish fauna, its conservation status and its vulnerability in the Aghien freshwater lagoon (southeast of Côte d'Ivoire). For the fish data collection, two sampling approaches were used: experimental fishing and artisanal fishing. As a result, 80 species observed in this lagoon are distributed into 55 genera, 27 families and 10 orders. The best represented orders are the Perciformes, Siluriformes, Osteoglossiformes, Characiformes, Cyprinodontiformes and Pleuronectiformes. The Cichlidae, Mormyridae and Clupeidae represented the best diversified family. With an occurrence of 100%, the most frequent species are: Brycinus longipinnis, Chrysichthys nigrodigitatus, Pellonula leonensis, Schilbe intermedius and S. mandibularis. In the whole fish population, according to IUCN red list, four species where described as Near Threatened (Coptodon walteri, Marcusenius furcidens, Galeoides decadactylus and Cynoglossus senegalensis), four as Vulnerable (B. brevis, Rhexipanchax nimbaensis, Enteromius raimbaulti and Tilapia busumana) and one as Endangered species (Pseudotolithus senegalensis). These categories of species that have a conservation interest according to the IUCN Red List represent respectively 10.26% of the whole population. Fish population of the Aghien Lagoon are divided into seven classes ranging from “low” to “very high” vulnerability, regarding the vulnerability to stress due to fishing pressure.
Cooperative Financing and the Growth of Catfish Aquaculture Value Chain in Nigeria
Authors: Gbigbi Theophilus Miebi , Achoja Felix Odemero 
Published: December 2019

Abstract
Cooperative-based growth model for agricultural enterprises is gradually gaining popularity in application. This study examined the effect of cooperative financial intervention on the growth of catfish aquaculture value chain in Nigeria. Primary data collected, with well-structured questionnaire from 120 participants in aquaculture value chain, were analyzed with descriptive statistical tools, cost and return function and 4-point likert-type scale. The result shows that 32.3% and 27.3% of processors and input suppliers accessed N320,000 and N270,000, respectively. Only 18.2% of producers accessed N180,000. The result indicates that there are more catfish producers than any other operators in the value chain. There is interdependence between catfish producers and input suppliers, processors and marketers in the value chain. Furthermore, catfish processors and inputs suppliers accessed more cooperative loan because their activities were capital intensive. The relatively high amount of cooperative fund accessed by these groups translated high growth rate of 55% and 53%, respectively. The major constraints to the growth of catfish value chain were inadequate credit access and high expenditure on inputs. Operators in the catfish aquaculture value chain should be encouraged to attend workshops on management techniques to improve the efficiency of their businesses.
First Record of Harry Hotlips Plectorhinchus gibbosus (Lacepède, 1802) (Perciformes: Haemulidae) From the Iranian Coast of the Gulf of Oman
Authors: Alavi-Yeganeh Mohammad Sadegh , Khajavi Mina 
Published: December 2019

Abstract
Harry hotlips (Plectorhinchus gibbosus), belonging to the fish family Haeumulidae, is recorded for the first time off the Iranian coast of the Oman Sea, Chabahar Bay (25°18′N, 60°37′E). Identification confirmed by comparing morphological data of the collected specimen with data of reported congener species off this area.
Indoor radon monitoring in selected fault zones, Slovakia – preliminary results from the summer monitoring period
Authors: Smetanová Iveta , Mojzeš Andrej , Marko František , Fekete Kamil , Csicsay Kristián 
Published: December 2019

Abstract
Indoor radon survey in Sološnica, Vydrník and Zázrivá villages has been performed within the framework of the project “Multidisciplinary research of geophysical and structural parameters, and environmental impacts of faults of the Western Carpathians”. Integration measurement of 222Rn activity concentration has been carried out using RamaRn detectors in houses, offices, schools and kindergartens. Indoor radon activity in the summer monitoring period (June–August 2018) varied from values under the detection limit of 55 Bq/m3 to 480 Bq/m3. In 94% of rooms the radon activity below 200 Bq/m3 was found. The results have been examined in respect of the most used building material and presence or absence of a cellar underneath the room. Indoor radon higher than 300 Bq/m3 was measured only in rooms in direct contact with the subsoil.
LAS: A combination of the analytic signal amplitude and the generalised logistic function as a novel edge enhancement of magnetic data
Authors: Pham Luan Thanh , Oksum Erdinc , Do Thanh Duc , Le-Huy Minh , Vu Minh Duc , Nguyen Vinh Duc 
Published: December 2019

Abstract
In the evaluation of magnetic field data, edge enhancement and detection techniques are important treatments for the interpretation of geological structures. In general geological sense, contiguity of deep and shallow magnetic sources leads to weak and intense anomalies that complicates the interpretation to disclose adjacent anomalous sources. Many of the existing filters for edge detection in magnetics mostly have the disadvantage that they require a reduction to pole transformation as the pre-process of the data or they cannot balance weak and intense anomalies and therefore fail in detecting edges of deep and shallow sources simultaneously. This study presents an improved edge detection filter LAS (logistic function of the analytical signal), based on the generalised logistic function configured by the ratio of derivatives of the analytical signal. This novel approach has the capability of reducing the dependence on the direction of the magnetization and also balancing anomalies of sources at different levels of depth. The feasibility of the method is examined on both theoretical and real data cases comparatively with some other methods that utilize the analytical signal in their basis. In comparison, the results demonstrate that the LAS method provides more accurate estimation of edge localization.
Characterization of the leakage problem in Salhab earthen dam using electrical resistivity tomography and SP measurements, Syria
Authors: Al-Fares Walid 
Published: December 2019

Abstract
The earthen dam of Salhab is located in the southern margins of Al-Ghab plain at 3–4km of Salhab town northern-west of Syria. The dam consists of two separated embankments: the main one extends east-west along a distance of 895 m with 14.5 m height, while the second embankment towards northwest-southeast over a distance of 510 m and 11 m of height. The dam crest has a constant topographic elevation of 220 m above sea level (a.s.l). Electrical Resistivity Tomography surveys (ERT) combined with a Self-Potential measurements (SP), were implemented at the upstream and at the top of the main and the secondary embankments of the dam in order to identify the possible leakage zones under the dam’s body. The interpretation of the ERT sections and the SP measurements, carried out at the upstream side, revealed a distinct zone of leakage extending along the beginning and the end parts under the main embankment. Moreover, many punctual anomalous spots of low resistivity values were recognized within the dam’s clay core. One of those spots was confirmed by the implementation of a detailed ERT profile and by a piezometric borehole drilled at the top of the dam. Whereas, the clay core of the secondary embankment seems relatively coherent and homogeneous as well as a trace of a tectonic fault was identified under the end part of the embankment body but no manifestations of leakage were observed under and behind the secondary dam body.
Characterization of Ar-Rassafeh Badyieh area (Area-2), Syria by using the airborne gamma-ray spectrometric and fractal modelling techniques
Authors: Asfahani Jamal 
Published: December 2019

Abstract
The available aerial gamma-ray spectrometric data of Ar-Rassafeh Badyieh area (Area-2) are used herein for geological interpretations and mapping purposes. Those data are interpreted by the concentration-number (C-N) fractal modelling technique, with the use of log-log graphs. According to C-N model, different radioactive ranges of TC, eU, eTh, and K have been isolated. Those ranges are thereafter used to characterize the lithological outcrops in the study area. The radioactive signatures of all the outcrops in Area-2 have been discussed and documented through establishing the C-N maps of TC, eU, eTh, and K, and benefiting of the available geological map. The C-N fractal modelling technique proves its efficacy, where radioactive and lithological boundaries of outcrops are in concordance. The case study presented in this paper shows the importance and the role of airborne gamma-ray spectrometric and fractal modelling techniques to support the geological mapping and the interpretations in geological context, particularly when the study region is rugged and difficult to be accessed.
Seismic activity on the territory of Slovakia in 2018
Authors: Kysel Róbert , Cipciar Andrej , Csicsay Kristián , Fojtíková Lucia , šugár Martin , Kristek Jozef 
Published: December 2019

Abstract
The National Network of Seismic Stations of Slovakia (NNSS) consists of eight short period and five broadband permanent seismic stations and a data centre located at the Earth Science Institute of the Slovak Academy of Sciences (ESI SAS). The NNSS recorded and detected 11704 seismic events from all epicentral distances in 2018. Totally 86 earthquakes originated in the territory of Slovakia in 2018. This paper provides basic information on the configuration of the NNSS, routine data processing, seismic activity on the territory of Slovakia in 2018 as well as macroseismic observations collected in 2018.
Impact of land tenure on the participation in factor income in agriculture of Slovenia
Authors: Žaucer Irena , Puc Helena 
Published: December 2019

Abstract
The purpose of the article is to present agricultural land tenure in Slovenia and its impact on the division of the factor income into the part intended for the production factor of land and the improvement by the introduction of the rent statistics. The land, together with the labour force and capital, contributes to the income generation and it is one of the production factors that participate in the income division. The analyses so far have been based on the FADN data but the Slovenian analysis is based on data from the Economic Accounts for Agriculture (EAA), it uses different sources, and a different calculation approach. The calculation is based on the share of rented utilised agricultural area which amounts to about 30% of the total utilised area. Due to the availability of the data the rent value is calculated depending on the institutional sectors – for agricultural enterprises (the non-financial enterprise sector) and family farms (the household sector). In 2016 the average rent per ha of utilised agricultural area amounted to almost EUR 150 and the nominal value of rents paid in Slovenian agriculture to EUR 21 million. Slovenian share of rent in factor income for the period 2000–2016 is 3%, which is substantially lower than the European Union (EU-28) average of 8%. In 2016, the factor income per employee was around EUR 6,000; about 4% of this amount was contributed to the land in the form of rent value. The rest was contributed to the workforce and capital. The paper presents the results that could be helpful for the agricultural and land policy makers.
The impact of cryptocurrency on the efficient frontier of emerging markets
Authors: Ćosić Karlo , Časni Anita Čeh 
Published: December 2019

Abstract
Cryptocurrencies are a sweltering topic in modern times of investment strategies. Since the cryptocurrency market is classified as an emerging market, in this paper a portfolio of emerging markets is compiled from the indices of four European Union (EU) countries and one cryptocurrency. The aim of this paper is to investigate how the incorporation of the Bitcoin cryptocurrency into the portfolio affects the performance of the portfolios of these countries. Moreover, by drawing an efficient frontier, the paper identifies where Bitcoin stands relative to other indices in the portfolio. The countries whose indices were used in the analysis are: Croatia, Hungary, Romania and Poland during the period from July 13, 2018 to June 07, 2019. The method used for an efficient frontier formation is Markowitz’s Modern Portfolio Theory (MPT). By applying this theory, the minimum variance portfolio at the efficient frontier was created for the portfolio with and without the cryptocurrency. The empirical analysis indicates that Bitcoin improves the effectiveness of the portfolio in emerging markets of the selected EU countries, where the expected risks of a portfolio that includes the cryptocurrency are smaller and with higher returns than those of portfolios without Bitcoin. From the Markowitz’s theory point of view, the results of the empirical analysis also indicate that Bitcoin is on the efficient frontier. Since all instruments on the efficient frontier according to the modern portfolio theory are efficient, it can be concluded that investments in such instruments depend on investor’s risk aversion.