bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical impact of small TP53 mutated subclones in chronic lymphocytic leukemia
Authors: Rossi Davide , Khiabanian Hossein , Spina Valeria , Ciardullo Carmela , Bruscaggin Alessio , Famà Rosella , Rasi Silvia , Monti Sara , Deambrogi Clara , De Paoli Lorenzo , Wang Jiguang , Gattei Valter , Guarini Anna , Foà Robin , Rabadan Raul , Gaidano Gianluca 
Published: February 2014

Key PointsSmall TP53 mutated subclones have the same unfavorable prognostic impact as clonal TP53 defects in chronic lymphocytic leukemia.
Selective depletion of factor XI or factor XII with antisense oligonucleotides attenuates catheter thrombosis in rabbits
Authors: Yau Jonathan W. , Liao Peng , Fredenburgh James C. , Stafford Alan R. , Revenko Alexey S. , Monia Brett P. , Weitz Jeffrey I. 
Published: February 2014

Key PointsAntisense oligonucleotides reduce levels of target hepatic mRNA and protein and decrease clotting activity in rabbits. Selective depletion of factors XI and XII in rabbits attenuates catheter thrombosis, whereas factor VII depletion does not.
Levels of salivary immunoglobulins and periodontal evaluation in smoking patients
Authors: Giuca Maria Rita , Pasini Marco , Tecco Simona , Giuca Giacomo , Marzo Giuseppe 
Published: February 2014

Abstract

Objective
The aim of this study was to assess the level of salivary immunoglobulins and periodontal status in smokers and non-smokers.

Materials and methods
Unstimulated saliva of 30 subjects (mean age 24.2 ± 3.5 years) who were smokers (test group) and of 30 subjects (mean age 25.3 ± 3.8 years) who were non-smokers (control group) was collected and centrifugated; IgA, IgG, and IgM were measured with the colorimetric immunoenzymatic method. Moreover, the following periodontal clinical parameters were recorded for each subject: plaque index (PI), gingival index (GI), probing depth (PD), and clinical attachment level (CAL).

Results
A significantly (p< 0.05) lower Ig level was observed in smoking patients (IgA: 20.0 ± 1.2 mg/dl; IgM: 19.5 ± 1.6 mg/dl; IgG: 8.1 ± 1.4 mg/dl) compared to levels in the non-smoking control group (IgA: 234.1 ± 65.2 mg/dl; IgM: 121.0 ± 31.7 mg/dl; IgG: 1049.4 ± 102 mg/dl). In the test group, PI (2.2 ± 0.3), GI (2.4 ±0.5), PD (49.3 ± 9.2%), and CAL (49.3 ± 4.6%) were higher (p< 0.05) than those observed in the control group (PI: 0.8 ± 0.4; GI: 0.7 ± 0.3; PD: 10.6 ± 2.4%; CAL: 3.1 ± 0.8%).

Conclusion
Smoking subjects showed lower levels of salivary IgA, IgG, and IgM and a worse periodontal condition than non-smoking subjects. On the base of our study, as smoking subjects also had lower levels of IgA, IgG, and IgM in their saliva than non-smoking subjects, despite the fact that there is little evidence that the salivary Igs have a protective action against periodontitis and that the whole saliva does not result in whole from the salivary glands, it can be concluded that the deteriorated periodontal health conditions of these patients can be attributed in part to a lowering of the host’s defense due to a decrease in the quantity of Igs in salivary fluid.
Cooperative activation of Xenopus rhodopsin transcription by paired-like transcription factors
Authors: Reks Sarah E , McIlvain Vera , Zhuo Xinming , Knox Barry E 
Published: February 2014

Abstract

Background
In vertebrates, rod photoreceptor-specific gene expression is regulated by the large Maf and Pax-like transcription factors, Nrl/LNrl and Crx/Otx5. The ubiquitous occurrence of their target DNA binding sites throughout rod-specific gene promoters suggests that multiple transcription factor interactions within the promoter are functionally important. Cooperative action by these transcription factors activates rod-specific genes such as rhodopsin. However, a quantitative mechanistic explanation of transcriptional rate determinants is lacking.

Results
We investigated the contributions of various paired-like transcription factors and their cognate cis-elements to rhodopsin gene activation using cultured cells to quantify activity. The Xenopus rhodopsin promoter (XOP) has a bipartite structure, with ~200 bp proximal to the start site (RPP) coordinating cooperative activation by Nrl/LNrl-Crx/Otx5 and the adjacent 5300 bp upstream sequence increasing the overall expression level. The synergistic activation by Nrl/LNrl-Crx/Otx5 also occurred when XOP was stably integrated into the genome. We determined that Crx/Otx5 synergistically activated transcription independently and additively through the two Pax-like cis-elements, BAT1 and Ret4, but not through Ret1. Other Pax-like family members, Rax1 and Rax2, do not synergistically activate XOP transcription with Nrl/LNrl and/or Crx/Otx5; rather they act as co-activators via the Ret1 cis-element.

Conclusions
We have provided a quantitative model of cooperative transcriptional activation of the rhodopsin promoter through interaction of Crx/Otx5 with Nrl/LNrl at two paired-like cis-elements proximal to the NRE and TATA binding site. Further, we have shown that Rax genes act in cooperation with Crx/Otx5 with Nrl/LNrl as co-activators of rhodopsin transcription.
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer
Authors: Pradella Laura Maria , Evangelisti Cecilia , Ligorio Claudia , Ceccarelli Claudio , Neri Iria , Zuntini Roberta , Amato Laura Benedetta , Ferrari Simona , Martelli Alberto Maria , Gasparre Giuseppe , Turchetti Daniela 
Published: February 2014

Abstract

Background
An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management, the knowledge of associated manifestations and an accurate clinical and family history evaluation are warranted.

Case presentation
We describe the case of a woman who developed an infiltrating ductal carcinoma of the right breast at the age of 32, a contralateral BC at age 36 and another BC of the right breast at 40. When she was 39 years-old, during a dermatological examination, mucocutaneous features suggestive of Cowden Syndrome, a disorder associated to germ-line PTEN mutations, were noticed. PTEN genetic testing revealed the novel c.71A > T (p.Asp24Val) mutation, whose deleterious effect, suggested by conservation data and in silico tools, was definitely demonstrated by the incapacity of mutant PTEN to inhibit Akt phosphorylation when used to complement PTEN-null cells. In BC tissue, despite the absence of LOH or somatic mutations of PTEN, Akt phosphorylation was markedly increased in comparison to normal tissue, thus implying additional somatic events into the deregulation of the PI3K/Akt/mTOR pathway and, presumably, into carcinogenesis. Hence, known oncogenic mutations in PIK3CA (exons 10 and 21) and AKT1 (exon 2) were screened in tumor DNA with negative results, which suggests that the responsible somatic event(s) is a different, uncommon one.

Conclusion
This case stresses the importance of clinical/genetic assessment of early-onset BC patients in order to identify mutation carriers, who are at high risk of new events, so requiring tailored management. Moreover, it revealed a novel PTEN mutation with pathogenic effect, pointing out, however, the need for further efforts to elucidate the molecular steps of PTEN-associated carcinogenesis.
Schedule-based sequential localization in asynchronous wireless networks
Authors: Zachariah Dave , Angelis Alessio De , Dwivedi Satyam , Händel Peter 
Published: February 2014

AbstractIn this paper, we consider the schedule-based network localization concept, which does not require synchronization among nodes and does not involve communication overhead. The concept makes use of a common transmission sequence, which enables each node to perform self-localization and to localize the entire network, based on noisy propagation-time measurements. We formulate the schedule-based localization problem as an estimation problem in a Bayesian framework. This provides robustness with respect to uncertainty in such system parameters as anchor locations and timing devices. Moreover, we derive a sequential approximate maximuma posteriori(AMAP) estimator. The estimator is fully decentralized and copes with varying noise levels. By studying the fundamental constraints given by the considered measurement model, we provide a system design methodology which enables a scalable solution. Finally, we evaluate the performance of the proposed AMAP estimator by numerical simulations emulating an impulse-radio ultra-wideband (IR-UWB) wireless network.
Biomechanics of the natural, arthritic, and replaced human ankle joint
Authors: Leardini Alberto , O'Connor John J , Giannini Sandro 
Published: February 2014

AbstractThe human ankle joint complex plays a fundamental role in gait and other activities of daily living. At the same time, it is a very complicated anatomical system but the large literature of experimental and modelling studies has not fully described the coupled joint motion, position and orientation of the joint axis of rotation, stress and strain in the ligaments and their role in guiding and stabilizing joint motion, conformity and congruence of the articular surfaces, patterns of contact at the articular surfaces, patterns of rolling and sliding at the joint surfaces, and muscle lever arm lengths.The present review article addresses these issues as described in the literature, reporting the most recent relevant findings.
CO2 laser versus cold steel margin analysis following endoscopic excision of glottic cancer
Authors: Makki Fawaz M , Rigby Matthew H , Bullock Martin , Brown Timothy , Hart Robert D , Trites Jonathan , Hinni Michael L , Taylor S Mark 
Published: February 2014

Objective To compare the suitability of CO2 laser with steel instruments for margin excision in transoral laser microsurgery. Methods Prospective randomized blinded study. Patients with glottic cancer undergoing laser resection were randomized to margin excision by either steel instruments or CO2 laser. Margins were analyzed for size, interpretability and degree of artifact by a pathologist who was blinded to technique. Results 45 patients were enrolled in the study with 226 total margins taken. 39 margins taken by laser had marked artifact and 0 were uninterpretable. 20 margins taken by steel instruments had marked artifact, and 2 were uninterpretable. Controlling for margin size, the laser technique was associated with increasing degrees of margin artifact (p = 0.210), but there was no difference in crude rates of uninterpretability (p = 0.24). Conclusion Laser margin excision is associated with a greater degree of artifact than steel instrument excision, but was not associated with higher rate of uninterpretability.
Donor-derived 47, XXY in an unrelated cord blood transplant recipient
Authors: Kawaguchi Kuniki , Nakamura Takayuki , Nohara Masayuki , Koteda Satoko , Nomura Kei , Morishige Satoshi , Oku Eijiro , Imamura Rie , Mouri Fumihiko , Seki Ritsuko , Osaki Koichi , Hashiguchi Michitoshi , Yoshimoto Kohji , Nagafuji Koji , Okamura Takashi 
Published: February 2014

Abstract
A 65-year-old Japanese male with therapy-related myelodysplastic syndrome was admitted for unrelated cord blood transplantation. A cord blood unit from a male donor was obtained from the Japan Cord Blood Bank Network. The patient then received a conditioning regimen consisting of fludarabine, intravenous busulfan, and total body irradiation. Successful engraftment was obtained. The bone marrow examination on day 28 revealed trilineage engraftment, and chimerism analysis by variable number of tandem repeat polymerase chain reaction confirmed complete donor chimerism. At that time, conventional cytogenetics of the bone marrow aspirate showed 20 out of 20 metaphases with the 47, XXY karyotype characteristic of Klinefelter syndrome. Klinefelter syndrome is the most common genetic cause of human male infertility with a reported prevalence of 0.1–0.2% in the general population. In Japan Cord Blood Bank Network, there is no informed consent from parents about the possibility that post-unrelated cord blood transplantation patient evaluation may reveal donor-origin inherited diseases including cytogenetic abnormality. It is desirable to have opportunities in Japan discussing whether parents will be notified of the possibility that post-unrelated cord blood transplantation evaluation may reveal donor-derived illness incidentally.
Aperture effects in squid jet propulsion
Authors: Staaf Danna J. , Gilly William F. , Denny Mark W. 
Published: February 2014

AbstractSquid are the largest jet propellers in nature as adults, but as paralarvae they are some of the smallest, faced with the inherent inefficiency of jet propulsion at low Reynolds number. In this study we describe the behavior and kinematics of locomotion in 1 mm paralarvae of Dosidicus gigas, the smallest squid yet studied. They swim with hop-and-sink behavior and can engage in fast jets by reducing the size of the mantle aperture during the contraction phase of a jetting cycle. We go on to explore the general effects of a variable mantle and funnel aperture in a theoretical model of jet propulsion scaled from the smallest (1 mm mantle length) to the largest (3 m) squid. Aperture reduction during mantle contraction increases propulsive efficiency at all squid sizes, although 1 mm squid still suffer from low efficiency (20%) due to a limited speed of contraction. Efficiency increases to a peak of 40% for 1 cm squid, then slowly declines. Squid larger than 6 cm must either reduce contraction speed or increase aperture size to maintain stress within maximal muscle tolerance. Ecological pressure to maintain maximum velocity may lead them to increase aperture size, which reduces efficiency. This effect may be ameliorated by nonaxial flow during the refill phase of the cycle. Our model's predictions highlight areas for future empirical work, and emphasize the existence of complex behavioral options for maximizing efficiency at both very small and large sizes.
Tight junction protein gene expression patterns and changes in transcript abundance during development of model fish gill epithelia
Authors: Kolosov Dennis , Chasiotis Helen , Kelly Scott P. 
Published: February 2014

AbstractIn vertebrates, tight junction (TJ) proteins play an important role in epithelium formation and development, the maintenance of tissue integrity and regulating TJ permeability. In this study, primary cultured model gill epithelia composed of pavement cells (PVCs) were used to examine TJ protein transcript abundance during the development of epithelium confluence and epithelium resistive properties. Differences in TJ protein expression patterns and transcript abundance between gill models composed of PVCs and models composed of PVCs and mitochondrion-rich cells (MRCs) were also examined. Marked alterations in TJ protein transcript abundance were observed during the formation of confluence in flask cultured model gill epithelia. In contrast, during the formation of tissue resistance in insert cultured epithelia (i.e. epithelia cultured on a permeable substrate), changes in TJ protein mRNA abundance were conservative, despite paracellular marker flux decreasing by orders of magnitude. In both cases significant changes in claudin-8b,-8d, -27b, -28b and -32a transcript abundance were observed, suggesting that temporal alterations in the abundance of these genes are important endpoints of model gill epithelium integrity. When MRCs were present in cultured gill models, the mRNA abundance of several TJ proteins significantly altered and claudin-10c, -10d and -33b were only detected in preparations possessing MRCs. These data provide insight into the role of select TJ proteins in the formation and development of gill epithelia and the maintenance of gill barrier properties. In addition, observations reveal a heterogeneous distribution of claudin TJ proteins in the gill epithelial cells of rainbow trout.
Cyclic TTF Tetramer Linked by Methylenedithio Spacers
Authors: Nakamura Ken-ichi , Okada Yuuki , Shirahata Takashi , Misaki Yohji 
Published: February 2014

Abstract
A new cyclic tetrathiafulvalene (TTF) tetramer 1 was synthesized. The cyclic voltammogram of 1 consists of four pairs of two-electron redox waves. UV–vis–NIR spectra of the oxidative species of 1 suggest that 12+, 14+, and 16+ possibly adopt two pairs of dimeric TTF structures that interact with each other through the so-called side-by-side interaction.
Water Proton Relaxivity, Superoxide Dismutase-like Activity, and Cytotoxicity of a Manganese(III) Porphyrin Having Four Poly(ethylene glycol) Tails
Authors: Hitomi Yutaka , Ekawa Tomoyuki , Kodera Masahito 
Published: February 2014

Abstract
A high-molecular-weight water-soluble manganese(III) porphyrin having four poly(ethylene glycol) tails was prepared, which enhanced the T1 relaxation rate of water protons by ca. 7.5-fold compared with manganese(III)–tetra(4-sulfonatophenyl)porphyrin. The new compound also exhibited superoxide dismutase-like activity and significantly lower cytotoxicity.
Study of Pressure-Impulse Diagrams for Reinforced Concrete Columns Using Finite Element Analysis
Authors: Thiagarajan Ganesh , Rahimzadeh Rasekh , Kundu Aritra 
Published: February 2014

The failure of reinforced concrete columns when subjected to blast events can be catastrophic to the building as a whole. The choice of the type of lateral confinement may influence the response of columns subjected to blast load much more when compared to the application of traditional loads. The objective of the research reported in this paper is to study the non-linear response of a typical reinforced concrete column with four types of lateral reinforcement subjected to uniform blast loading, using finite element (FE) and single degree of freedom (SDOF) methods. An advanced FE modeling tool, LS-DYNA and a widely used SDOF analysis tool – SBEDS – are used for this purpose. Pressure-Impulse (PI) diagrams for different levels of protection (LOP) are developed using both the methods. The mid height displacement is used to represent the levels of protection. A parametric analysis is used to develop PI diagrams in order to study the effect of confinement on the reduction of displacement at impulsive, dynamic, and quasi-static loading conditions. PI curves developed from the FE methods are compared with the curves from the SDOF methodology. Regression equations are also developed using statistical analysis, to characterize PI diagrams generated from the FE method. Recommendations for analysis, design and detailing of reinforced concrete columns for blast protection based on this research are presented.
The Hole Argument and Some Physical and Philosophical Implications
Authors: Stachel John 
Published: February 2014

AbstractThis is a historical-critical study of the hole argument, concentrating on the interface between historical, philosophical and physical issues. Although it includes a review of its history, its primary aim is a discussion of the contemporary implications of the hole argument for physical theories based on dynamical, background-independent space-time structures.The historical review includes Einstein’s formulations of the hole argument, Kretschmann’s critique, as well as Hilbert’s reformulation and Darmois’ formulation of the general-relativistic Cauchy problem. The 1970s saw a revival of interest in the hole argument, growing out of attempts to answer the question: Why did three years elapse between Einstein’s adoption of the metric tensor to represent the gravitational field and his adoption of the Einstein field equations?The main part presents some modern mathematical versions of the hole argument, including both coordinate-dependent and coordinate-independent definitions of covariance and general covariance; and the fiber bundle formulation of both natural and gauge natural theories. By abstraction from continuity and differentiability, these formulations can be extended from differentiable manifolds to any set; and the concepts of permutability and general permutability applied to theories based on relations between the elements of a set, such as elementary particle theories.We are closing with an overview of current discussions of philosophical and physical implications of the hole argument.
Cricket Bat Industry as an Economically Viable Livelihood Option in Kashmir: Present Status and Future Prospects
Authors: Masoodi T. H. , Ahmad Hillal , Gangoo S. A. , Sofi P. A. , Mir S. A. , Saraf S. A. , Murtaza Shah , Bashir Altamash , Bhat G. M. , Mir A. A. , Bhat M. A. 
Published: February 2014

Abstract
The main objective of this study was to determine whether bat manufacturing units operational in Kashmir were sustainable entrepreneurial ventures or whether they exhibit a declining trend in terms of economic viability. The study also aimed to document the main constraints that confront the cricket bat industry in order to devise future strategies and research needs that can help to exploit the full economic potential of this indigenous wood-based industry. The present study was carried out in a bat manufacturing cluster, which is composed of about 70 units concentrated on the Jammu–Srinagar national highway in the valley of Kashmir (India). Results revealed that the cost of manufacturing cricket bats decreased with the increase in the size of the industrial unit, indicating the existence of “economies of scale.” The gross returns earned by small-, medium-, and large-scale units were more than 2.7, 5.0, and 8.2 million rupees (Rs), with benefit-cost ratios (BCRs) of 1.69, 2.05, and 2.29, respectively. The cost and return structure, in relation to various economic indicators such as BCR, net income, breakeven quantity, and export competitiveness, reflects positive trends, and the bat manufacturing activity fetched a reasonable profit to the unit holders, besides providing employment opportunities to youth and thereby reflecting that this entrepreneurial venture is an economically viable livelihood activity. These results indicate that, despite underutilization of installed production capacity, the manufacture of cricket bats is a lucrative venture in Kashmir and can be up-scaled to become highly competitive in terms of its export potential to other countries.
Criminal Network Analysis inside Law Enforcement Agencies: A Data-Mining System Approach under the National Intelligence Model
Authors: Seidler Patrick , Adderley Rick 
Published: February 2014

All police forces in the UK, and many Forces in Europe and the USA, use the National Intelligence Model as a means to provide relevant, timely and actionable intelligence. Increased awareness of the benefits that criminal network analysis provides in discovering, analysing and visualising networked criminal activity has become an integral part of the intelligence model. Despite numerous research efforts, technology has not achieved the expected improvements in the quality of criminal network analysis intelligence and the time needed to create related intelligence products. As current tools focus on the provision of structural metrics in describing networked crime activity and neglect the integration with Force prioritisation tactics, intelligence outputs from current automated tools rarely produce immediately applicable intelligence products, but leave an operational gap between intelligence analyst and police officers, and numerous manual tasks for the analyst. Using the Cross Industry Standard Process for Data Mining, a database agnostic data-mining methodology, we propose a common standard to provide a structured approach to the manifold of analytical tasks in the process of criminal network analysis and show how those tasks relate to the intelligence model. We aim to depict the specific issues at each stage of the process and show how better results can be achieved through better integration of criminal network analysis and the intelligence cycle.