bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Authors: Gao Xue , Zhu Qing-yan , Song Yue-Shuai , Wang Guo-Jian , Yuan Yong-Yi , Xin Feng , Huang Sha-Sha , Kang Dong-Yang , Han Ming-Yu , Guan Li-ping , Zhang Jian-guo , Dai Pu 
Published: November 2013

Abstract

Background
Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis.

Methods
By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis.

Results
We identified MYO15A c.IVS25 + 3G > A and c.8375 T > C (p.V2792A) as the disease-causing mutations. Both mutations co-segregated with hearing loss in family 4794, but were absent in the 56 index patients and 108 ethnicity-matched controls.

Conclusions
Our results demonstrated that the hearing loss of family 4794 was caused by novel compound heterozygous mutations in MYO15A.
Chitosan-based intelligent theragnosis nanocomposites enable pH-sensitive drug release with MR-guided imaging for cancer therapy
Authors: Lim Eun-Kyung , Sajomsang Warayuth , Choi Yuna , Jang Eunji , Lee Hwunjae , Kang Byunghoon , Kim Eunjung , Haam Seungjoo , Suh Jin-Suck , Chung Sang Jeon , Huh Yong-Min 
Published: November 2013

Abstract
Smart drug delivery systems that are triggered by environmental conditions have been developed to enhance cancer therapeutic efficacy while limiting unwanted effects. Because cancer exhibits abnormally high local acidities compared to normal tissues (pH 7.4) due to Warburg effects, pH-sensitive systems have been researched for effective cancer therapy. Chitosan-based intelligent theragnosis nanocomposites, N-naphthyl-O-dimethymaleoyl chitosan-based drug-loaded magnetic nanoparticles (N Chitosan-DMNPs), were developed in this study. N Chitosan-DMNPs are capable of pH-sensitive drug release with MR-guided images because doxorubicin (DOX) and magnetic nanocrystals (MNCs) are encapsulated into the designed N-naphthyl-O-dimethymaleoyl chitosan (N-nap-O-MalCS). This system exhibits rapid DOX release as acidity increases, high stability under high pH conditions, and sufficient capacity for diagnosing and monitoring therapeutic responses. These results demonstrate that N Chitosan-DMNPs have potential as theragnosis nanocomposites for effective cancer therapy.
Plasmonic Fano resonance and dip of Au-SiO2-Au nanomatryoshka
Authors: Liaw Jiunn-Woei , Chen Huang-Chih , Kuo Mao-Kuen 
Published: November 2013

Abstract
This study theoretically investigates Fano resonances and dips of an Au-SiO2-Au nanomatryoshka that is excited by a nearby electric dipole. An analytical solution of dyadic Green's functions is used to analyze the radiative and nonradiative power spectra of a radial dipole in the proximity of a nanomatryoshka. From these spectra, the plasmon modes and Fano resonances that accompany the Fano dips are identified. In addition, the scattering and absorption spectra of a nanomatryoshka that is illuminated by a plane wave are investigated to confirm these modes and Fano dips. Our results reveal that a Fano dip splits each of the dipole and quadrupole modes into bonding and anti-bonding modes. The Fano dip and resonance result from the destructive interference of the plasmon modes of the Au shell and the Au core. The Fano factors that are obtained from the nonradiative power spectra of the Au shell and the Au core of a nanomatryoshka are in accordance with those obtained from the absorption cross section spectra. Moreover, these Fano factors increase as the plasmonic coupling of the Au shell with the core increases for both dipole and quadrupole modes.
Dirac cone in α-graphdiyne: a first-principles study
Authors: Niu Xiaoning , Mao Xingze , Yang Dezheng , Zhang Zhiya , Si Mingsu , Xue Desheng 
Published: November 2013

Abstract
We investigate the Dirac cone in α-graphdiyne, which is a predicted flat one-atom-thick allotrope of carbon using first-principles calculations. α-graphdiyne is derived from graphene where two acetylenic linkages (-C ≡C-) are inserted into the single bonds (-C-C-). Thus, α-graphdiyne possesses a larger lattice constant which subsequently affects its electronic properties. Band structures show that α-graphdiyne exhibits similar Dirac points and cone to graphene. Further, the tight-binding method is used to exploit the linear dispersion in the vicinity of Dirac points. Thanks to the larger lattice constant, α-graphdiyne yields a lower Fermi velocity, which might make itself an ideal material to serve the anomalous integer quantum Hall effect.
Annealing effect and photovoltaic properties of nano-ZnS/textured p-Si heterojunction
Authors: Ji Liang-Wen , Hsiao Yu-Jen , Tang I-Tseng , Meen Teen-Hang , Liu Chien-Hung , Tsai Jenn-Kai , Wu Tien-Chuan , Wu Yue-Sian 
Published: November 2013

Abstract
The preparation and characterization of heterojunction solar cell with ZnS nanocrystals synthesized by chemical bath deposition method were studied in this work. The ZnS nanocrystals were characterized by X-ray diffraction (XRD) and high-resolution transmission electron microscopy (HRTEM). Lower reflectance spectra were found as the annealing temperature of ZnS film increased on the textured p-Si substrate. It was found that the power conversion efficiency (PCE) of the AZO/ZnS/textured p-Si heterojunction solar cell with an annealing temperature of 250°C was η = 3.66%.
Asymptotic behavior for third-order quasi-linear differential equations
Authors: Qin Guixiang , Huang Chuangxia , Xie Yongqin , Wen Fenghua 
Published: November 2013

Abstract
In this paper, a class of third-order quasi-linear differential equations withcontinuously distributed delay is studied. Applying the generalized Riccatitransformation, integral averaging technique of Philos type and Young’sinequality, a set of new criteria for oscillation or certain asymptoticbehavior of nonoscillatory solutions of this equations is given. Our resultsessentially improve and complement some earlier publications.
Differentiation between genomic and non-genomic feedback controls yields an HPA axis model featuring Hypercortisolism as an irreversible bistable switch
Authors: Zarzer Clemens A , Puchinger Martin G , Köhler Gottfried , Kügler Philipp 
Published: November 2013

Abstract

Background
The hypothalamic-pituitary-adrenal axis (HPA axis) is a major part of the neuroendocrine system responsible for the regulation of the response to physical or mental stress and for the control of the synthesis of the stress hormone cortisol. Dysfunctions of the HPA axis characterized by either low (hypocortisolism) or increased (hypercortisolism) cortisol levels are implicated in various pathological conditions. Their understanding and therapeutic correction may be supported by mathematical modeling and simulation of the HPA axis.

Methods
Mass action and Michaelis Menten enzyme kinetics were used to provide a mechanistic description of the feedback mechanisms within the pituitary gland cells by which cortisol inhibits its own production. A separation of the nucleus from the cytoplasm by compartments enabled a differentiation between slow genomic and fast non-genomic processes. The model in parts was trained against time resolved ACTH stress response data from an in vitro cell culture of murine AtT-20 pituitary tumor cells and analyzed by bifurcation discovery tools.

Results
A recently found pituitary gland cell membrane receptor that mediates rapid non-genomic actions of glucocorticoids has been incorporated into our model of the HPA axis. As a consequence of the distinction between genomic and non-genomic feedback processes our model possesses an extended dynamic repertoire in comparison to existing HPA models. In particular, our model exhibits limit cycle oscillations and bistable behavior associated to hypocortisolism but also features a (second) bistable switch which captures irreversible transitions in hypercortisolism to elevated cortisol levels.

Conclusions
Model predictive control and inverse bifurcation analysis have been previously applied in the simulation-based design of therapeutic strategies for the correction of hypocortisolism. Given the HPA model extension presented in this paper, these techniques may also be used in the study of hypercortisolism. As an example, we show how sparsity enforcing penalization may suggest network interventions that allow the return from elevated cortisol levels back to nominal ones.
Genetic evidence of extra-pair paternity and intraspecific brood parasitism in the monk parakeet
Authors: Martínez Juan José , de Aranzamendi María Carla , Masello Juan F , Bucher Enrique H 
Published: November 2013

Abstract

Introduction
The monk parakeet (Myiopsitta monachus) is a widespread invasive species native to southern South America that has become established in many regions of the world. Monk parakeets breed in a large, fully enclosed structure built from twigs, which consist of one to many individual brooding chambers. The species has been considered to be socially and genetically monogamous. However, genetic relatedness of adults to juveniles in the native area was found to be lower than expected for monogamy. To assess the significance of this discrepancy, we examined individual and population genetic patterns of microsatellite loci at two sites in Córdoba province, Argentina.

Results
We sampled 154 nestlings and 42 adults in Córdoba, Argentina. Mean value of pairwise relatedness of nestlings within chambers was about 0.40. Contrarily, relatedness of nestlings between chambers was close to zero. We found a considerable degree of variation in nestling pairwise relatedness and parentage within chambers, including chambers with combinations of unrelated, half-sib, and full-sib nestlings. The proportion of sibling relatedness indicated monogamy in 47% and extra pair-paternity in 40% of the chambers. We also found intra-brood parasitism in 3% of the chambers.

Conclusions
Our results indicate that the monk parakeet is sexually polygamous in its native range in Argentina, which is consistent with the observed mean value of relatedness of adults to juveniles of about 0.4. We also confirm the existence of intra-brood parasitism. High density of monk parakeets may favor occurrence of extra-pair paternity and intra-brood parasitism in the native sites.
Transcriptional profiling of left ventricle and peripheral blood mononuclear cells in a rat model of postinfarction heart failure
Authors: Tulacz Dorota , Mackiewicz Urszula , Maczewski Michal , Maciejak Agata , Gora Monika , Burzynska Beata 
Published: November 2013

Abstract

Background
Myocardial infarction (MI) often results in left ventricular (LV) remodeling followed by heart failure (HF). It is of great clinical importance to understand the molecular mechanisms that trigger transition from compensated LV injury to HF and to identify relevant diagnostic biomarkers. The aim of this study was to investigate gene expression in the LV and to evaluate their reflection in peripheral blood mononuclear cells (PBMCs).

Methods
MI was induced in rats by ligation of the proximal left coronary artery. Rats with small, moderate, and large MI size were included into the experiment two months after the operation. The development of heart failure was estimated by echocardiography and catheterization. Microarrays were used to compare the LV and PBMCs transcriptomes of control and experimental animals.

Results
Only rats with a large MI developed extensive LV remodeling and heart failure. 840 transcripts were altered in LV of failing hearts, and especially numerous were those associated with the extracellular matrix. In contrast, no significant gene expression changes were seen in LVs of rats with moderate or small MI that had compensated LV injury. We showed that ceruloplasmin was similarly overexpressed in the heart and blood in response to HF, whereas downregulation of tetraspanin 12 was significant only in the PBMCs.

Conclusion
A large size of infarcted area is critical for progression of LV remodeling and HF development, associated with altered gene expression in the heart. Ceruloplasmin and tetraspanin 12 are potential convenient markers in readily obtainable PBMCs.
A new double right border binary vector for producing marker-free transgenic plants
Authors: Matheka Jonathan M , Anami Sylvester , Gethi James , Omer Rasha A , Alakonya Amos , Machuka Jesse , Runo Steven 
Published: November 2013

Abstract

Background
Once a transgenic plant is developed, the selectable marker gene (SMG) becomes unnecessary in the plant. In fact, the continued presence of the SMG in the transgenic plant may cause unexpected pleiotropic effects as well as environmental or biosafety issues. Several methods for removal of SMGs that have been reported remain inaccessible due to protection by patents, while development of new ones is expensive and cost prohibitive. Here, we describe the development of a new vector for producing marker-free plants by simply adapting an ordinary binary vector to the double right border (DRB) vector design using conventional cloning procedures.

Findings
We developed the DRB vector pMarkfree5.0 by placing the bar gene (representing genes of interest) between two copies of T-DNA right border sequences. The β-glucuronidase (gus) and nptII genes (representing the selectable marker gene) were cloned next followed by one copy of the left border sequence. When tested in a model species (tobacco), this vector system enabled the generation of 55.6% kanamycin-resistant plants by Agrobacterium-mediated transformation. The frequency of cotransformation of the nptII and bar transgenes using the vector was 66.7%. Using the leaf bleach and Basta assays, we confirmed that the nptII and bar transgenes were coexpressed and segregated independently in the transgenic plants. This enable separation of the transgenes in plants cotransformed using pMarkfree5.0.

Conclusions
The results suggest that the DRB system developed here is a practical and effective approach for separation of gene(s) of interest from a SMG and production of SMG-free plants. Therefore this system could be instrumental in production of “clean” plants containing genes of agronomic importance.
Domestic pigs as potential reservoirs of human and animal trypanosomiasis in Northern Tanzania
Authors: Hamill Louise C , Kaare Magai T , Welburn Susan C , Picozzi Kim 
Published: November 2013

Abstract

Background
Pig keeping is becoming increasingly common across sub-Saharan Africa. Domestic pigs from the Arusha region of northern Tanzania were screened for trypanosomes using PCR-based methods to examine the role of pigs as a reservoir of human and animal trypanosomiasis.

Methods
A total of 168 blood samples were obtained from domestic pigs opportunistically sampled across four districts in Tanzania (Babati, Mbulu, Arumeru and Dodoma) during December 2004. A suite of PCR-based methods was used to identify the species and sub-species of trypanosomes including: Internally Transcribed Sequence to identify multiple species; species specific PCR to identify T. brucei s. l. and T. godfreyi and a multiplex PCR reaction to distinguish T. b. rhodesiense from T. brucei s. l.

Results
Of the 168 domestic pigs screened for animal and human infective trypanosome DNA, 28 (16.7%) were infected with one or more species of trypanosome; these included: six pigs infected with Trypanosoma vivax (3.6%); three with Trypanosoma simiae (1.8%); two with Trypanosoma congolense (Forest) (1%) and four with Trypanosoma godfreyi (2.4%). Nineteen pigs were infected with Trypanosoma brucei s. l. (10.1%) of which eight were identified as carrying the human infective sub-species Trypanosoma brucei rhodesiense (4.8%).

Conclusion
These results show that in Tanzania domestic pigs may act as a significant reservoir for animal trypanosomiasis including the cattle pathogens T. vivax and T. congolense, the pig pathogen T. simiae, and provide a significant reservoir for T. b. rhodesiense, the causative agent of acute Rhodesian sleeping sickness.
Models to quantify excretion of dry matter, nitrogen, phosphorus and carbon in growing pigs fed regional diets
Authors: Jørgensen Henry , Prapaspongsa Trakarn , Vu Van Thi Khanh , Poulsen Hanne Damgaard 
Published: November 2013

Abstract
Modern pig production contributes to many environmental problems that relate to manure, especially in areas with highly intensive production systems and in regions like Asia where the regulative control is not effective. Therefore, the objective of this study was to use three different pig diets varying in dietary protein, fibre and fat as representative for Danish (DK), Thai (TH) and Vietnamese (VN) pig production to develop and evaluate different approaches to predict/calculate excretion from growing pigs in comparison with the experimentally determined values.
Nine female growing pigs were used in a digestibility and balance experiment. Excretion of dry matter (DM), nitrogen (N), phosphorus (P) and carbon (C) of the experimental diets were determined.
Due to the highest dietary fibre content, VN had the lowest digestibility of N, P and C (73, 49, and 73%, respectively) compared with the DK and TH pig diets. From the known diet composition using standard table values on chemical and nutrient digestibly, high accuracy (bias) and low variation was found and the results could be used for prediction on chemical composition and excretion in faeces and urine in growing pigs. Calculation based on standard values regarding nutrient retention in the pig body as used in the Danish manure normative system (DMNS) showed likewise to be quite useful for quantifying the total excretion of N and P.
Overall, the results demonstrate that simple models that require cheap and normally available information on dietary nutrients can give useful information on nutrient excretion in growing pigs.
Neoadjuvant treatment of melanoma: case reports and review
Authors: Laks Shachar , Brueske Kevin A , Hsueh Eddy C 
Published: November 2013

AbstractNeoadjuvant therapy is an under-utilized regimen for the treatment of metastatic melanoma. The use of this approach has been increasing in other tumor types. Neoadjuvant therapy may reduce occult circulating tumor cell burden in the face of bulky disease and afford a real time evaluation of treatment effectiveness. Neoadjuvant approach can also provide preoperative histologic and molecular analysis of treated tissue that may guide the postoperative treatment planning in patients with resectable metastatic melanoma lesions. The putative benefits of better margin control and clearance of occult systemic disease would theoretically improve surgical outcome. With the advent of effective agents against metastatic melanoma, this common approach to the treatment of rectal cancer, metastatic colon cancer, and breast cancer should also be evaluated as a viable treatment strategy for advanced stage melanoma.
Development of a PCR based marker system for easy identification and classification of aerobic endospore forming bacilli
Authors: Kadyan Sangeeta , Panghal Manju , Singh Khushboo , Yadav Jaya Parkash 
Published: November 2013

Abstract
Restriction fragment length analysis of 16S rRNA gene of 52 different aerobic endospore forming Bacilli (AEFB) strains with HaeIII enzyme has revealed the presence of a 460 bp long fragment in 50 AEFB strains. BLAST analysis revealed that the fragment was 463 bp long and it was located at 3’ end of 16S rRNA gene. Further specificity of this fragment for AEFB strains was checked by PCR and in silico methods. In PCR based method a primer pair (463 F and 463R) specific to this fragment was designed and this primer pair has shown amplification of 463 bp fragment in AEFB strains only. In in silico methods homology of primer pair and presence of restriction enzyme site in 16S rRNA genes were checked in 268 species of AEFB. Almost all species of AEFB have shown positive results for both of the tests. Further multiple alignments of 463 bp sequences of different species of AEFB have shown that it is a good marker for identification and classification of AEFB.
Racemic ketamine in adult head injury patients: use in endotracheal suctioning
Authors: Caricato Anselmo , Tersali Alessandra , Pitoni Sara , De Waure Chiara , Sandroni Claudio , Bocci Maria Grazia , Annetta Maria Giuseppina , Pennisi Mariano Alberto , Antonelli Massimo 
Published: November 2013

Abstract
Introduction
Endotracheal suctioning (ETS) is essential for patient care in an ICU but may represent a cause of cerebral secondary injury. Ketamine has been historically contraindicated for its use in head injury patients, since an increase of intracranial pressure (ICP) was reported; nevertheless, its use was recently suggested in neurosurgical patients. In this prospective observational study we investigated the effect of ETS on ICP, cerebral perfusion pressure (CPP), jugular oxygen saturation (SjO2) and cerebral blood flow velocity (mVMCA) before and after the administration of ketamine.

Methods
In the control phase, ETS was performed on patients sedated with propofol and remifentanil in continuous infusion. If a cough was present, patients were assigned to the intervention phase, and 100 γ/kg/min of racemic ketamine for 10 minutes was added before ETS.

Results
In the control group ETS stimulated the cough reflex, with a median cough score of 2 (interquartile range (IQR) 1 to 2). Furthermore, it caused an increase in mean arterial pressure (MAP) (from 89.0 ± 11.6 to 96.4 ± 13.1 mmHg; P <0.001), ICP (from 11.0 ± 6.7 to 18.5 ± 8.9 mmHg; P <0.001), SjO2 (from 82.3 ± 7.5 to 89.1 ± 5.4; P = 0.01) and mVMCA (from 76.8 ± 20.4 to 90.2 ± 30.2 cm/sec; P = 0.04). CPP did not vary with ETS. In the intervention group, no significant variation of MAP, CPP, mVMCA, and SjO2 were observed in any step; after ETS, ICP increased if compared with baseline (15.1 ± 9.4 vs. 11.0 ± 6.4 mmHg; P <0.05). Cough score was significantly reduced in comparison with controls (P <0.0001).

Conclusions
Ketamine did not induce any significant variation in cerebral and systemic parameters. After ETS, it maintained cerebral hemodynamics without changes in CPP, mVMCA and SjO2, and prevented cough reflex. Nevertheless, ketamine was not completely effective when used to control ICP increase after administration of 100 γ/kg/min for 10 minutes.
The two faces of heterologous immunity: protection or immunopathology
Authors: Sharma Shalini , Thomas Paul G 
Published: November 2013

ABSTRACTImmunity to previously encountered viruses can alter responses to unrelated pathogens. This phenomenon, which is known as heterologous immunity, has been well established in animal model systems. Heterologous immunity appears to be relatively common and may be beneficial by boosting protective responses. However, heterologous reactivity can also result in severe immunopathology. The key features that define heterologous immune modulation include alterations in the CD4+ and CD8+ T cell compartments and changes in viral dynamics and disease progression. In this review, we discuss recent advances and the current understanding of antiviral immunity in heterologous infections. The difficulties of studying these complex heterologous infections in humans are discussed, with special reference to the variations in HLA haplotypes and uncertainties about individuals' infection history. Despite these limitations, epidemiological analyses in humans and the data from mouse models of coinfection can be applied toward advancing the design of therapeutics and vaccination strategies.