bluuebunny/crossref_metadata_2025_split huggingface dataset:
Primary ciliary dyskinesia
Authors: Djakow Jana , O’Callaghan Christopher 
Published: June 2014

Educational aimsTo describe the emerging genetics of primary ciliary dyskinesia (PCD) and the heterogeneity of the diseaseTo highlight the clinical symptoms and signs suggestive of PCD that should lead to consideration of diagnostic testingTo highlight the difficulties in diagnosing PCD emphasising the need for specialist diagnostic centresTo discuss current treatment strategies and highlight the lack of an evidence base for theseSummaryPrimary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting ciliary function. Genes coding for various ciliary structural proteins or cytoplasmic proteins responsible for the assembly of cilia can be mutated resulting in abnormal ciliary function. However, despite the diversity of genotypes that can cause PCD the clinical phenotypes of PCD are all remarkably similar. The main clinical symptoms are caused by a lack of mucociliary clearance. Worryingly many patients are diagnosed late despite their classical, lifelong symptoms of a daily wet sounding cough and rhinosinusitis. Even when PCD is suspected, poor access to specialist diagnostic centres may delay diagnosis. Currently, diagnostic testing includes screening of nasal nitric oxide, followed by nasal brushing to obtain ciliated epithelial strips for high-speed video analysis of ciliary function. This is typically followed by transmission electron microscopy and in difficult cases by ciliated cell culture. Emerging tests including immunofluorescence and genetic examination are the focus of intense research and are likely to feature more in the future. Despite a greater understanding of the pathogenesis of PCD and improved diagnostic testing, management strategies are currently based on expert opinion with little, if any, evidence base.
The embryology of the retinal pigmented epithelium in dwarf geckos (Gekkota: Sphaerodactylinae): a unique developmental pattern
Authors: Guerra-Fuentes Ricardo A , Daza Juan D , Bauer Aaron M 
Published: June 2014

AbstractBackgroundThe retinal pigmented epithelium (RPE) is a rounded shaped structure in almost all lizards. In the New World dwarf geckos, this structure shows an unusual morphology. In addition to this ocular character, we describe notable differences in the development of these geckos in comparison with available developmental staging tables for other geckos and squamate reptiles.ResultsWe identified two main patterns of development of the RPE for squamates. These patterns were mapped onto a metatree of concordant hypotheses of squamates based on molecular data. During post-ovopositional stages the representative species of sphaerodactyls exhibit a RPE layer that transforms gradually from an ovoid form into the generalized spherical form. Sphaerodactyls are the only group of squamates in which this pattern is known.ConclusionsThis transition might be circumstantial evidence that the accessory RPE plays a role in providing additional protection for their apomorphic concaviclivate temporal fovea. We also report the presence of conjunctival papillae in a developmental stage prior to the formation of scleral ossicles. This developmental progression is similar to that of birds and turtles.
Understanding the main barriers to immunization in Colombia to better tailor communication strategies
Authors: García L Diego Alejandro , Velandia-González Martha , Trumbo Silas Pierson , Pedreira M Cristina , Bravo-Alcántara Pamela , Danovaro-Holliday M Carolina 
Published: June 2014

Abstract

Background
The Expanded Program on Immunization (EPI) in Colombia has made great advances since its inception in 1979; however, by 2010 vaccination coverage rates had been declining. In 2010, the EPI commissioned a nationwide study on practices on immunization, attitudes and knowledge, perceived service quality, and barriers to childhood immunization in order to tailor EPI communication strategies.

Methods
Colombia’s 32 geographical departments were divided into 10 regions. Interviewers from an independent polling company administered a survey to 4802 parents and guardians of children aged <5 years in these regions. To better assess barriers to vaccination, the study was designed to have 70% of participants who had children with incomplete vaccination schedules. Explanatory factorial, principal component, and cluster analyses were performed to place participants into a group (segment) representing the primary category of reasons respondents offered for not vaccinating their children. Types of barriers were then compared to other variables, such as service quality, communication preferences, and parental attitudes on vaccination.

Results
Although all respondents indicated that vaccines have health benefits, and 4738 (98.7%) possessed vaccination cards for their children, attitudes and knowledge were not always favorable to immunization. Six groups of immunization barriers were identified: 1) factors related to caregivers (24.4%), 2) vaccinators (19.7%), 3) health centers (18.0%), 4) the health system (13.4%), 5) concerns about adverse events (13.1%), and 6) cultural and religious beliefs (11.4%); groups 1, 5 and 6 together represented almost half (48.9%) of users, indicating problems related to the demand for vaccines as the primary barriers to immunization. Differences in demographics, communication preferences, and reported service quality were found among participants in the six groups and among participants in the 10 regions. Additionally, differences between how participants reported receiving information on vaccination and how they believed such information should be communicated were observed.

Conclusions
Better understanding immunization barriers and the users of the EPI can help tailor communication strategies to increase demand for immunization services. Results of the study have been used by Colombia’s EPI to inform the design of new communication strategies.
A novel miR-219-SMC4-JAK2/Stat3 regulatory pathway in human hepatocellular carcinoma
Authors: Zhou Bo , Chen Hongxu , Wei Dong , Kuang Yi , Zhao Xiaobiao , Li Guangyao , Xie Jun , Chen Ping 
Published: June 2014

Abstract

Background
To understand the involvement of structural maintenance of chromosome 4 (SMC4) in the development and progression of hepatocellular carcinoma (HCC).

Methods
Real-time quantitative PCR and Western Blotting were applied to measure the expression of SMC4 in HCC samples and cell lines. The tumor-promoting effect of SMC4 was determined by WST-1, soft agar colony formation, cell motility and invasion assays. The SMC4 target signal pathway was identified by luciferase reporter and real-time quantitative PCR assays.

Results
The upregulation of SMC4 was frequently detected in HCC samples and cell lines. Functional assays demonstrated that SMC4 could effectively promote tumor cell growth rate, colony formation in soft agar, wound-healing and invasion. Further studies showed that increased miR-219 levels caused a significant decrease in the SMC4 expression, and SMC4 inhibitor downregulated JAK2/Stat3 expression at both the mRNA and protein levels.

Conclusions
Our findings provide new insight into SMC4 function and the mechanisms of growth and invasion of HCC.
Relationship of PIK3CA mutation and pathway activity with antiproliferative response to aromatase inhibition
Authors: López-Knowles Elena , Segal Corrinne V , Gao Qiong , Garcia-Murillas Isaac , Turner Nicholas C , Smith Ian , Martin Lesley-Ann , Dowsett Mitch 
Published: June 2014

Abstract
Introduction
PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit α) somatic mutations are the most common genetic alteration in breast cancer (BC). Their prognostic value and that of the phosphatidylinositol 3-kinase (PI3K) pathway in BC remains only partly defined. The effect of PIK3CA mutations and alterations of the PI3K pathway on the antiproliferative response to aromatase inhibitor treatment was determined.

Methods
The Sequenom MassARRAY System was used to determine the presence of 20 somatic mutations across the PIK3CA gene in 85 oestrogen receptor–positive (ER+) BC patients treated with 2 weeks of anastrozole before surgery. Whole-genome expression profiles were used to interrogate gene signatures (GSs) associated with the PI3K pathway. Antiproliferative activity was assessed by the change in Ki67 staining between baseline and surgery. Three GSs representing the PI3K pathway were assessed (PIK3CA-GS (Loi), PI3K-GS (Creighton) and PTEN-loss-GS (Saal)).

Results
In our study sample, 29% of tumours presented with either a hotspot (HS, 71%) or a nonhotspot (non-HS, 29%) PIK3CA mutation. Mutations were associated with markers of good prognosis such as progesterone receptor positivity (PgR+) (P = 0.006), low grade (P = 0.028) and luminal A subtype (P = 0.039), with a trend towards significance with degree of ER positivity (P = 0.051) and low levels of Ki67 (P = 0.051). Non-HS mutations were associated with higher PgR (P = 0.014) and ER (P < 0.001) expression than both wild-type (WT) and HS-mutated samples, whereas neither biomarker differed significantly between WT and HS mutations or between HS and non-HS mutations. An inverse correlation was found between the Loi signature and both the Creighton and Saal signatures, and a positive correlation was found between the latter signatures. Lower pretreatment Ki67 levels were observed in mutation compared with WT samples (P = 0.051), which was confirmed in an independent data set. Mutation status did not predict change in Ki67 in response to 2 weeks of anastrozole treatment; there was no significant difference between HS and non-HS mutations in this regard.

Conclusions
PIK3CA mutations are associated with classical markers of good prognosis and signatures of PI3K pathway activity. The presence of a PIK3CA mutation does not preclude a response to neoadjuvant anastrozole treatment.
Revisiting therapeutic hypothermia for severe traumatic brain injury… again
Authors: Marion Donald W , Regasa Lemma E 
Published: June 2014

AbstractImproved understanding of the molecular mechanisms of secondary brain injury has informed the optimum depth and duration of cooling and led to increased clinical interest in the therapeutic moderate hypothermia for severe traumatic brain injury over the past two decades. Although several large multi-center clinical trials have not found a treatment effect, multiple single-center trials have, and a recent meta-analysis by Crossley and colleagues now finds that the cumulative findings of those single-center trials dilute the multi-center trial results and show an overall reduction in mortality and poor outcomes associated with cooling. The need for consistent support of key physiologic parameters during cooling is emphasized by this finding.
Functional analysis of Arabidopsisimmune-related MAPKs uncovers a role for MPK3 as negative regulator of inducible defences
Authors: Frei dit Frey Nicolas , Garcia Ana Victoria , Bigeard Jean , Zaag Rim , Bueso Eduardo , Garmier Marie , Pateyron Stéphanie , de Tauzia-Moreau Marie-Ludivine , Brunaud Véronique , Balzergue Sandrine , Colcombet Jean , Aubourg Sébastien , Martin-Magniette Marie-Laure , Hirt Heribert 
Published: June 2014

Abstract
Background
Mitogen-activated protein kinases (MAPKs) are key regulators of immune responses in animals and plants. In Arabidopsis, perception of microbe-associated molecular patterns (MAMPs) activates the MAPKs MPK3, MPK4 and MPK6. Increasing information depicts the molecular events activated by MAMPs in plants, but the specific and cooperative contributions of the MAPKs in these signalling events are largely unclear.

Results
In this work, we analyse the behaviour of MPK3, MPK4 and MPK6 mutants in early and late immune responses triggered by the MAMP flg22 from bacterial flagellin. A genome-wide transcriptome analysis reveals that 36% of the flg22-upregulated genes and 68% of the flg22-downregulated genes are affected in at least one MAPK mutant. So far MPK4 was considered as a negative regulator of immunity, whereas MPK3 and MPK6 were believed to play partially redundant positive functions in defence. Our work reveals that MPK4 is required for the regulation of approximately 50% of flg22-induced genes and we identify a negative role for MPK3 in regulating defence gene expression, flg22-induced salicylic acid accumulation and disease resistance to Pseudomonas syringae. Among the MAPK-dependent genes, 27% of flg22-upregulated genes and 76% of flg22-downregulated genes require two or three MAPKs for their regulation. The flg22-induced MAPK activities are differentially regulated in MPK3 and MPK6 mutants, both in amplitude and duration, revealing a highly interdependent network.

Conclusions
These data reveal a new set of distinct functions for MPK3, MPK4 and MPK6 and indicate that the plant immune signalling network is choreographed through the interplay of these three interwoven MAPK pathways.
Does inter-vertebral range of motion increase after spinal manipulation? A prospective cohort study
Authors: Branney Jonathan , Breen Alan C 
Published: June 2014

Abstract
Background
Spinal manipulation for nonspecific neck pain is thought to work in part by improving inter-vertebral range of motion (IV-RoM), but it is difficult to measure this or determine whether it is related to clinical outcomes.

Objectives
This study undertook to determine whether cervical spine flexion and extension IV-RoM increases after a course of spinal manipulation, to explore relationships between any IV-RoM increases and clinical outcomes and to compare palpation with objective measurement in the detection of hypo-mobile segments.

Method
Thirty patients with nonspecific neck pain and 30 healthy controls matched for age and gender received quantitative fluoroscopy (QF) screenings to measure flexion and extension IV-RoM (C1-C6) at baseline and 4-week follow-up between September 2012-13. Patients received up to 12 neck manipulations and completed NRS, NDI and Euroqol 5D-5L at baseline, plus PGIC and satisfaction questionnaires at follow-up. IV-RoM accuracy, repeatability and hypo-mobility cut-offs were determined. Minimal detectable changes (MDC) over 4 weeks were calculated from controls. Patients and control IV-RoMs were compared at baseline as well as changes in patients over 4 weeks. Correlations between outcomes and the number of manipulations received and the agreement (Kappa) between palpated and QF-detected of hypo-mobile segments were calculated.

Results
QF had high accuracy (worst RMS error 0.5o) and repeatability (highest SEM 1.1o, lowest ICC 0.90) for IV-RoM measurement. Hypo-mobility cut offs ranged from 0.8o to 3.5o. No outcome was significantly correlated with increased IV-RoM above MDC and there was no significant difference between the number of hypo-mobile segments in patients and controls at baseline or significant increases in IV-RoMs in patients. However, there was a modest and significant correlation between the number of manipulations received and the number of levels and directions whose IV-RoM increased beyond MDC (Rho=0.39, p=0.043). There was also no agreement between palpation and QF in identifying hypo-mobile segments (Kappa 0.04-0.06).

Conclusions
This study found no differences in cervical sagittal IV-RoM between patients with non-specific neck pain and matched controls. There was a modest dose-response relationship between the number of manipulations given and number of levels increasing IV-RoM - providing evidence that neck manipulation has a mechanical effect at segmental levels. However, patient-reported outcomes were not related to this.
Competition and Innovation in Product Quality: Theory and Evidence from Eastern Europe and Central Asia
Authors: Karaman Fatma Nur , Lahiri Sajal 
Published: June 2014

Abstract
This paper examines how the degree of competition affects incentives to innovate in product quality in a symmetric Cournot oligopolistic model. We model product quality in a quality-ladder framework and find an inverted-U shaped relationship between the number of firms in an industry and R&D efforts in innovation. We test this theoretical prediction using firm-level data for Eastern European and Central Asian countries from the Business Environment and Enterprise Performance Survey and find strong support for it.
Understanding Ransom Kidnappings and Their Duration
Authors: Detotto Claudio , McCannon Bryan C. , Vannini Marco 
Published: June 2014

AbstractWhat factors drive the length of a kidnapping experience? A theoretical model is developed to conduct comparative statics. A unique data set covering all kidnappings for ransom in Sardinia between 1960 and 2010 is analyzed. Factors related to the ability to pay and cost of abduction matter. Policies aimed at deterring kidnapping have mixed effects on its duration.
Reactions of 1,2-cyclopropyl carbohydrates
Authors: Harvey Joanne E. , Hewitt Russell J. , Moore Peter W. , Somarathne Kalpani K. 
Published: June 2014

AbstractAddition of a carbene to a glycal is the prominent method for the synthesis of 1,2-cyclopropyl carbohydrates. This incorporation of a cyclopropane into a carbohydrate scaffold enables divergent reactivity, with the two main classes being ring expansion and cleavage to 2-C-branched carbohydrates. A wide variety of products are obtained depending on the functionality attached to the cyclopropane (none or ester or halogens) and the promoter (Lewis acid, Brønsted acid, halophile or base) used in the reaction. This article reviews progress in the synthesis and reactions of 1,2-cyclopropyl carbohydrates since 2000 and discloses efforts by our group in the area.
A Flexible Accelerometer System for Human Pulse Monitoring
Authors: Zhang Yuanfeng , Kim Woo Soo 
Published: June 2014

ABSTRACTHere we introduce a cost-effective and highly sensitive flexible accelerometer system, which can sense human pulse by detecting the pulsation. The accelerometer employs capacitive sensing with a structure of two parallel plate electrodes with the optimally designed top electrode pattern in order to achieve high sensitivity. This flexible light-weight sensor is fabricated by direct-printing of silver nano-inks on pre-patterned flexible paper substrates. When the accelerometer is attached to the body surfaces: neck, inner elbow, or any other pulsation point, accurate pulse rates are obtained by reading out the voltage output signal.
Electrical and Optical Properties of Permalloy Oxide grown by dual ion beam sputtering.
Authors: Compton Maclyn Stuart , Simpson Nelson A. , LeBlanc Elizabeth G. , Robinson Michael A. , Geerts Wilhelmus J. 
Published: June 2014

ABSTRACTElectrical and Optical measurements were carried out on permalloy oxide (PyO) thin films made by reactive dual ion beam sputtering at room temperature. VSM measurements at room temperature and 15 Kelvin did not reveal any magnetic moment in 120 nm thick films. The optical refraction and extinction spectra from 200-1000 nm were determined from ellipsometry measurements using a Cody-Lorentz model and provided in a reproducible method to determine the film thickness of PyO films on different substrate materials. PyO is transparent above 700 nm and is strongly absorbing below 500 nm. The resistivity values of PyO samples sputtered at room temperature depend on the oxygen flow rate and is approximately 4E3 Ohm cm for films prepared at 10 sccm. The resistivity of PyO decreases as a function of temperature. The dielectric constant is strongly frequency dependent, decreasing from 500 at 500 Hz to 10 at 1 MHz.
Improvement of Inventory and Leaching Rate Measurements of C-14 in Hull Waste, and Separation of Organic Compounds for Chemical Species Identification
Authors: Takahashi Ryota , Sasoh Michitaka , Yamashita Yu , Tanabe Hiromi , Sakuragi Tomofumi 
Published: June 2014

ABSTRACTIn order to analyze the C-14 inventory and leaching rate for safety evaluation of transuranic waste disposal, it is necessary to establish an analytical method that can measure C-14 with sufficient precision [1]. Oxidative decomposition of organic compounds containing C-14 is carried out to absorb carbon dioxide (CO2) in an alkaline solution, which is mixed with a liquid scintillation cocktail, and the amount C-14 is quantified by measuring a beta ray spectrum with a liquid scintillation counter. It has been difficult to completely decompose carbon compounds in a sample, even to CO2, by using conventional oxidizing agents. In the work described here, we improved the method of oxidative decomposition used to completely decompose carbon compounds using peroxydisulfuric acid (K2S2O8). When C-14 in the form of CO2 was absorbed in a sodium hydroxide (NaOH) aqueous solution, only 80% of the actually used quantity was detected. Total organic carbon measurements showed that the entire quantity of CO2 was absorbed by NaOH. When NaOH aqueous solution was used, it was found that only the analytical value was 80%. The entire quantity of the actually used carbon could be measured by absorbing the CO2 in Carbo-Sorb®. An anion form and a neutral molecule exist in the organic compound released from activated metals. In order to identify organic compounds efficiently, fractionation into an anion and a neutral molecule and separation by high performance liquid chromatography (HPLC) are necessary. Here, we propose the combined use of an ion exchange resin and HPLC as an improved technique for identification of the chemical species.
The effect of alkaline alteration on sorption properties of sedimentary rock
Authors: Shimoda Satoko , Nakazawa Toshiyuki , Kato Hiroyasu , Tachi Yukio , Seida Yoshimi 
Published: June 2014

ABSTRACTThe potential effect of high pH plume caused by cementitious materials must be evaluated in the performance assessment for HLW geological disposal. Alkaline plume would lead to change sorption properties of host rock by primary mineral dissolution, secondary mineral precipitation and sequential change of pore water chemistry. In this study, the effect of alkaline alteration on sorption of Cs, Ni and Th was investigated using rock samples from the Horonobe Underground Research Laboratory. Crushed rock samples were reacted in high pH alkaline solution at 90°C for 45 days, 95 days and 1,383 days, respectively. As a result of sample analysis, it was supposed that zeolitic mineral was precipitated as secondary mineral. The cation exchange capacity slightly increased in comparison with the unaltered sample. Distribution coefficients (Kd) of Cs, Ni and Th on unaltered and altered rock sample were measured by batch sorption experiment in synthetic groundwater. Kdof Cs increased with the alteration period. These results show that secondary minerals contribute to the increase in Cs sorption. By contrast, Kdof Ni and Th decreased with the alteration period. This change might be caused by dissolution of clay minerals and amorphous silicates controlling Ni and Th sorption by surface complexation. These results imply that effects of alkaline alteration on Kdof rocks depend on the dissolution/precipitation of minerals, their surface properties and sorption mechanisms.
On the Amorphisation Trajectory of Carbon Nanotubes
Authors: Santangelo Saveria , Milone Candida 
Published: June 2014

ABSTRACTA very simple model for the kinetics of oxidation of carbon Nanotubes (NTs) is proposed which is able to reproduce the main features of their measured kinetic thermal oxidation profiles. Based on this model the resistance to oxidation of NTs is found to decrease with increasing defect density and amorphous phases, i.e. sp3 bonding component. This finding supports the validity of assumptions previously made to explain the correlation between results of Raman Spectroscopy (RS) and Kinetic Thermal Analysis (KTA) on NTs via a three-stage model, inspired to that proposed by Ferrari and Robertson for other nanocarbons.