bluuebunny/crossref_metadata_2025_split huggingface dataset:
Microstructure, Spectroscopic Studies and Nanomechanical Properties of Human Cortical Bone with Osteogenesis Imperfecta
Authors: Gu Chunju , Katti Dinesh R. , Katti Kalpana S. 
Published: March 2014

ABSTRACTBone is a natural protein (collagen)-mineral (hydroxyapatite) nanocomposite with hierarchically organized structure. Our previous work has demonstrated orientational differences in stoichiometry of hydroxyapatite resulting from orientationally dependent collagen-mineral interactions in bone. The nature of these interactions has been investigated both through molecular dynamics simulations as well as nanomechanical and infrared spectroscopic experiments. In this study, we report experimental studies on human cortical bone with osteogenesis imperfecta (OI), a disease characterized by fragility of bones and other tissues rich in type I collagen. About 90% of OI cases result from causative variant in one of the two structural genes (COL1A1 or COL1A2) for type I procollagens. OI provides an interesting platform for investigating how alterations of collagen at the molecular level cause changes in structure and mechanics of bone. Fourier transform spectroscopy, electron microscopy (SEM), and nanomechanical experiments describe the structural and molecular differences in bone ultrastructure due to presence of diseases. Photoacoustic-Fourier transform infrared spectroscopy (PA-FTIR) experiments have been conducted to investigate the orientational differences in molecular structure of OI bone, which is also compared with that of healthy human cortical bone. Further, in situ SEM static nanomechanical testing is conducted in the transverse and longitudinal directions in the OI bone. Microstructural defects and abnormities of OI bone were ascertained using scanning electron microscopies. These results provide an insight into molecular basis of deformation and mechanical behavior of healthy human bone and OI bone.
The Effect of Sputtering Power on the Properties of One-step Deposited Cu2ZnSnSe4 Thin Films
Authors: Yan Yong , Li Shasha , Yu Zhou , Zhang Yong , Zhao Yong 
Published: March 2014

ABSTRACTCu2ZnSnSe4 films were deposited on soda lime glass substrates at room temperature by one-step radio frequency magnetron-sputtering process. The effect of sputtering power on the properties of one-step deposited Cu2ZnSnSe4 thin films has been investigated. The deposited films might be suitable for the absorber layers in the solar cells. The chemical composition and the preferred orientation of the films can be optimized by the sputtering power.
Electrical Properties of Ga2O3:Sn/CIGS Hetero-junction
Authors: Kikuchi Kenji , Imura Shigeyuki , Miyakawa Kazunori , Kubota Misao , Ohta Eiji 
Published: March 2014

ABSTRACTThere is an increased need for highly sensitive imaging devices to develop high resolution and high speed image sensors. Incident light intensity per pixel of image sensors is getting lower because the pixel resolution and frame rate of image sensors are becoming higher. We investigated the feasibility of using a photoconductor with tin-doped gallium oxide (Ga2O3:Sn)/Cu(In,Ga)Se2 (CIGS) hetero-junction for visible light image sensors. CIGS chalcopyrite thin films have great potential for improving the sensitivity of image sensors and CIGS chalcopyrite semiconductors have both a high absorption coefficient and high quantum efficiency. Moreover, the band gap can be adjusted for visible light. We applied Ga2O3 as an n-type semiconductor layer and a hole-blocking layer to CIGS thin film to reduce the dark current. The experimental results revealed that dark current was drastically reduced due to the application of Ga2O3 thin film, and an avalanche multiplication phenomenon was observed at an applied voltage of over 6 V. However, non-doped Ga2O3/CIGS hetero-junction only had sensitivity in the ultraviolet light region because their depletion region was almost completely spread throughout the Ga2O3 layer due to the low carrier density of the Ga2O3 layer. Therefore, we used Ga2O3:Sn for the n-type layer to increase carrier density. As a result, the depletion region shifted to the CIGS film and the cells had sensitivity in all visible regions. These results indicate that Ga2O3:Sn/CIGS hetero-junction are feasible for visible light photoconductors.
Chromosome Numbers and Polyploidy in Life Forms of Asteraceae, Poaceae and Rosaceae in Polish Flora
Authors: Góralski Grzegorz , Bal Marcin , Gacek Paulina , Orzechowski Tomasz Marcin , Kosecka-Wierzejska Agnieszka 
Published: March 2014

Abstract
The chromosome numbers and frequency of polyploids were compared in life forms of Asteraceae, Poaceae and Rosaceae. Both parameters were higher in Poaceae and Rosaceae than in Asteraceae. Among the life forms, long-lived plants including perennials and woody plants (shrubs and trees) generally had higher chromosome numbers and consequently polyploid frequencies than short-lived species (annuals and biennials). The families surveyed have different frequencies of life forms. Asteraceae and Rosaceae are both dicots, but the life forms in Asteraceae are more similar to Poaceae than to Rosaceae. To separate the influence of life form, in a series of tests we compared life forms from the same families. These results also showed that long-lived forms generally have more chromosomes than short-lived ones.
Estimating the Safety Performance Function for Urban Unsignalized Four-Legged One-Way Intersections in Palermo, Italy
Authors: Giuffrè O. , Granà A. , Giuffrè T. , Marino R. , Marino S. 
Published: March 2014

Abstract
Starting from consideration that urban intersections are sites with promise for safety and operational improvements, the paper describes the steps taken to develop a crash predictive model for estimating the safety performance of urban unsignalized intersections located in Palermo, Italy. The focus is on unsignalized four-legged one-way intersections widespread in Italian downtowns. The sample considered in the study consist of 92 intersections in Palermo, Italy. For the study were collected crashes occurred in the sites during the years 2006-2012, geometric design and functional characteristics and traffic flow. Results showed that data were overdispersed and NB1 distributed. In order to account for the correlation within responses Generalized Estimating Equations (GEE) were used under different working correlation matrices.
The Transition Effect in Rail Tracks – Assessment of Transient Energy for Low Frequency Vibrations
Authors: Sołkowski J. 
Published: March 2014

Abstract
The transition effect between different track-foundation systems is examined from the point of view of energy that is produced during the passage of load. Analytical solution is given. A model of beam on elastic foundation with damping is used as the base model. It is developed into a model composed of two parts that represent the track-subgrade system with an abrupt change in mechanical parameters: bending stiffness, foundation stiffness, damping, and mass. Several calculations are carried out including examples of comparative calculations with the Finite Difference Model and the Finite Element Model. Transient rail deflections and energy are determined, which may serve to estimate the rate of track-subgrade deterioration.
Drug resistance to anti-tuberculotics in children - three years status in Slovakia
Authors: Porvaznik I , Mokry J , Solovic I 
Published: March 2014

Abstract
Drug resistant tuberculosis is a serious and increasing problem worldwide, particularly in countries with a high
incidence of tuberculosis and HIV infections. Resistant tuberculosis in children is usually due to the transmission
of resistant strains from the environment where they live. Most often it is a transfer from the parents, or other
relatives. A paucibacillary nature of the disease in children associated with difficulties in a collection of adequate
sputum samples means that the samples are often microscopically negative. If the cultivation is negative, any bacteriological
confirmation of the drug resistance is impossible.
The aim of this study was to review current diagnostic and therapeutic principles in tuberculosis in children and
to demonstrate its incidence in population of the Slovak Republic during 2010-2012.
We have retrospectively analyzed all children sputum samples from children with diagnosed tuberculosis in
Slovakia. The classical bacteriological analysis (culture on solid eggs-based media) was used to confirm the mycobacterium
tuberculosis infection and the proportion method was applied to test its susceptibility or resistance to
mostly used antituberculotics.
In years 2010-2012, three cases of resistant form of tuberculosis have been diagnosed in Slovakia among 16 children
with cultivation positive to tuberculosis. In all of the cases the INH mono-resistance was confirmed (with the
same strains present in their relatives), suggesting primary resistance origin of infection.
To ensure an appropriate and successful treatment of tuberculosis in children, accurate and timely diagnostics
and determination of susceptibility to anti-tuberculotics is essential.
The spread of infection through the danger space to the mediastinum case report
Authors: Schlenkerova D , Mlcakova K , Hanzel P , Mikulasova V , Hajtman A 
Published: March 2014

Abstract
Deep neck infection is an infection in the potential space and fascial planes of the neck, either with abscess formation
or cellulitis. Cervical fascias create space and plane, which define and limit the spread of infection. Danger
space is the area of thin connective tissue extending from the skull base down to the diaphragm. This space is enclosed
on all sides, therefore inflammation in this area arises from penetration and spreads of infection from surrounding
structures. This risk is in the rapid spread of infection in the chest, due to the low resistance of thin connective
tissue. Formation of the descending necrotizing mediastinitis is the most common and most feared complication
of danger space.
Authors describe a case of extensive dental infection that despite intensive surgical and antibiotic treatement
spread to other anatomical areas and caused descending necrotizing mediastinitis.
Phoresy of astigmatic mites on ticks and fleas in Poland
Authors: Karbowiak Grzegorz , Solarz Krzysztof , Asman Marek , Wróblewski Zbigniew , Slivinska Kateryna , Werszko Joanna 
Published: March 2014

Abstract
Phoresy is an association in which a small animal clings to a larger one exclusively for transportation. We searched for phoretic mites on fleas and ticks of small mammals. A total of 169 fleas of 7 species were collected in the Białowieża Forest (E Poland) and in Kosewo G órne (NE Poland) in July and August in 2007 and 2008. Moreover, 20 nymphs and 12 females of Ixodes hexagonus (Leach, 1815) were collected in the beaver farm of the Research Station of Polish Academy of Sciences in Popielno (NE Poland) in April and May 2009. Phoretic mites were found on 26 fleas (15.4%) of the following species: Megabothris walkeri (Rothschild, 1902), Megabothris turbidus (Rothschild, 1909), Ctenophthalmus agyrtes (Heller, 1896), and Hystrichopsylla orientalis (Smit, 1956). The mites were located mainly on abdominal sternites. Among ticks, only one female was positive for mites, whose larvae (hypopi) were found on its legs. A total of 6 species of mites were identified. On I. hexagonus, we found Acarus farris (Oudemans, 1905) (53 larvae), Acarus siro (L., 1758) (2 larvae), Acarus nidicolous (Griffiths, 1970) (1 larva), Caloglyphus rhizoglyphoides (Zachvatkin, 1937) (1 larva), and Histiostoma feroniarum (Dufour, 1904) (28 larvae), whereas on fleas, 79 larvae of Acarus nidicolous, 1 male of Tyrophagus putrescentiae (Schrank, 1781), and 1 unidentified trombiculid larva. The last 2 mite specimens were found on M. turbidus. This is the first report on phoretic association of the flea H. orientalis and the tick I. hexagonus with mites
Oribatid mites (Acari: Oribatida) from roofs of houses in Sogn og Fjordane (Norway)
Authors: Graczyk Radomir , Seniczak Stanisław 
Published: March 2014

Abstract
Oribatid mite communities in moss covering the roofs of buildings in towns of Bolstad, Luster, and Sørheim (in Sogn og F jordane, Norway) were investigated. These mites were rather numerous and rich in species, which was caused mainly by the natural roofing material (rock slates) and the temperate and rather stable maritime climate. In these communities the most abundant were Tectocepheus velatus, Dissorhina ornata, Oppiella uliginosa, Quadroppia quadricarinata, and Oribatula exilis, which are typical soil species. Adults usually dominated in the mite communities, except for Bolstad, where the juveniles were slightly more abundant than the adults. Phauloppia lucorum and Trhypochthonius tectorum were the only species of the group of typical inhabitants of roofs of buildings, but were not numerous in Sogn og Fjordane. In continental climate these species are often abundant on roofs of buildings.
RTN4 AND FBXL17 GENES ARE ASSOCIATED WITH CORONARY HEART DISEASE IN GENOME-WIDE ASSOCIATION ANALYSIS OF LITHUANIAN FAMILIES
Authors: Domarkienė I. , Pranculis A. , Germanas Š. , Jakaitienė A. , Vitkus D. , Dženkevičiūtė V. , Kučinskienė Za. , Kučinskas V. 
Published: March 2014

ABSTRACT Coronary heart disease (CHD) is a complex and heterogeneous cardiovascular disease. There are many genome-wide association studies (GWAS) performed worldwide to extract the causative genetic factors. Moreover, each population may have some exceptional genetic characteristic. Thus, the background of our study is from the previous Lithuanian studies (the LiVicordia Project), which demonstrated the differences of the atherosclerosis process between Lithuanian and Swedish male individuals. In this study we performed GWAS of 32 families of Lithuanian origin in search of significant candidate genetic markers [single nucleotide polymorphisms (SNPs)] of CHD in this population. After careful clinical and biochemical phenotype evaluation, the ~770K SNPs genotyping (Illumina HumanOmniExpress- 12 v1.0 array) and familial GWAS analyses were performed. Twelve SNPs were found to be significantly associated with the CHD phenotype (p value <0.0001; the power >0.65). The odds ratio (OR) values were calculated. Two SNPs (rs17046570 in the RTN4 gene and rs11743737 in the FBXL17 gene) stood out and may prove to be important genetic factors for CHD risk. Our results correspond with the findings in other studies, and these two SNPs may be the susceptibility loci for CHD
MOLECULAR CYTOGENETIC STUDY OF THE NF2 GENE DELETION IN MENINGIOMA IN SUDANESE PATIENTS
Authors: AbdElmontalab Farah Y. , Fadl Elmula I. , Abushama Hm. , Kreskowski K. , Liehr T. 
Published: March 2014

ABSTRACT Meningioma is the second most common adult central nervous system tumor. Mutations and/or deletions within the tumor suppressor gene neurofibromatosis type 2 (NF2) are associated with meningioma development and progression. We studied 29 meningioma samples by cytogenetic analysis and interphase fluorescence in situ hybridization (I-FISH) using a locus-specific probe for the NF2 gene region. We detected loss of the NF2 gene in all samples except for one. In 10 of the 29 samples, karyotypic analyses confirmed the I-FISH results and revealed additional numerical and/or structural rearrangements in nine of them. Our study confirmed: i) the limited role of banding cytogenetics in assessing chromosomal rearrangements in meningioma, as this tumor is hard to be grown in cell culture; ii) we could show that two-color I-FISH is well-suited for NF2-deletion screening. Our results were in accordance with those of comparable studies, even though the frequency of 97.0% of meningiomas with NF2 deletions is exceptionally high in the studied Sudanese patients
TWENTY-FOUR GENES ARE UPREGULATED IN PATIENTS WITH HYPOSPADIAS
Authors: Karabulut R. , Turkyilmaz Z. , Sonmez K. , Kumas G. , Ergun Sg. , Ergun Ma. , Basaklar Ac. 
Published: March 2014

ABSTRACT Hypospadias is a congenital hypoplasia of the penis, with displacement of the urethral opening along the ventral surface, and has been reported to be one of the most common congenital anomalies, occurring in approximately 1:250 to 1:300 live births. As hypospadias is reported to be an easily diagnosed malformation at the crossroads of genetics and environment, it is important to study the genetic component in order to elucidate its etiology. In this study, the gene expression profiles both in human hypospadias tissues and normal penile tissues were studied by Human Gene Expression Array. Twentyfour genes were found to be upregulated. Among these, ATF3 and CYR61 have been reported previously. Other genes that have not been previously reported were also found to be upregulated: BTG2, CD69, CD9, DUSP1, EGR1, EIF4A1, FOS, FOSB, HBEGF, HNRNPUL1, IER2, JUN, JUNB, KLF2, NR4A1, NR4A2, PTGS2, RGS1, RTN4, SLC25A25, SOCS3 and ZFP36 (p <0.05). Further studies including genome-wide association studies (GWAS) with expression studies in a large patient group will help us for identifiying the candidate gene(s) in the etiology of hypospadias
ETHNIC VARIATION IN INTERLEUKIN-6 –174 (G/C) POLYMORPHISM IN THE MALAYSIAN POPULATION
Authors: Gan G-G , Subramaniam R. , Lian L-H , Nadarajan Vs. 
Published: March 2014

ABSTRACT Interleukin-6 (IL-6) is one of the cytokines that has been well studied and implicated in many diseases including cancers. The frequency of the IL-6 -174 (G/C) polymorphism had been proven to differ in various populations. Malaysia is a country with three major ethnic populations, Malays, Chinese and Indians. In this study, we proposed to determine the G or C allele frequency of the IL-6 -174 polymorphism in these three populations. A total of 348 blood samples were available for analysis. The median age for the subjects was 31 years. There were a total of 245 males and 103 females. A total of 86 Malays (25.0%), 122 Chinese (33.0%) and 140 Indians (40.0%) were genotyped. The result showed a significant difference in the G or C allele frequency of the -174 polymorphism. The total frequencies for the G and C alleles were 91.0 and 9.0%, respectively. In the Malays, the allele frequency of the C allele was 4.0% compared with 19.0% in the Indians. The C allele was not detected in the Chinese population. This finding is the first reported on the Malaysian population and may be important in determining risk of diseases associated with the IL-6 polymorphism in these three populations
LACK OF ASSOCIATION OF TUMOR NECROSIS FACTOR-α G–308A AND TRANSFORMING GROWTH FACTOR-β1 C–509T POLYMORPHISMS IN PATIENTS WITH DEEP NECK SPACE INFECTIONS
Authors: Jevtović-Stoimenov T. , Despotović M. , Pešić Z. , Ćosić A. 
Published: March 2014

ABSTRACT Deep neck space infections are defined as infections that spread along the fascial planes and spaces of the head and neck. Even in the era of antibiotics, these infections can and have been potentially life-threatening conditions. The role of single nucleotide polymorphisms (SNPs) of tumor necrosis factor-a (TNF-a) and transforming growth factor-b1 (TGF-b1) genes in deep neck infections has not been studied. Thus, the aim of this study was to investigate the distribution of the TNF-a G-308A and TGF-b1 C-509T polymorphisms in patients suffering from infections of deep neck spaces and to determine the correlation of these polymorphisms with the values of inflammation markers [C-reactive protein (CRP) and white blood cell (WBC) count]. A total of 41 patients with infections of deep neck spaces and 44 healthy controls were screened for TNF-a G-308A and TGF-b1 C-509T polymorphisms using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The distribution of the TNF-a G-308A genotype in patients did not reveal statistically significant correlation compared to con-trols (p = 0.483, c2 = 0.491) as well as the distribution of the TGF-b1 C-509T genotypes (p = 0.644, c2 = 0.725). The distribution of TNF-a -308 and TGF-b1 -509 alleles was not significantly different in patients compared to controls. Moreover, CRP levels and WBC counts were not associated with TNF-a G-308A and TGF-b1 C-509T promoter polymorphisms in patients with deep neck infections. In conclusion, our study suggests that the TNF-a G-308A and TGF-b1 C-509T polymorphisms are not associated with infections of deep neck spaces
DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
Authors: Sireteanu A. , Voloşciuc M. , Grămescu M. , Gorduza Ev. , Vulpoi C. , Frunză I. , Rusu C. 
Published: March 2014

ABSTRACT We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient’s clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies
A CASE OF TREACHER COLLINS SYNDROME
Authors: Ulusal S. , Gürkan H. , Vatansever Ü. , Kürkçü K. , Tozkir H. , Acunaş Ba. 
Published: March 2014

ABSTRACT Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation
DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE
Authors: Shu X. , Zou C. , Shen Z. 
Published: March 2014

ABSTRACT A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported