bluuebunny/crossref_metadata_2025_split huggingface dataset:
Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
Authors: Prasad Rathi , Chan Li F. , Hughes Claire R. , Kaski Juan P. , Kowalczyk Julia C. , Savage Martin O. , Peters Catherine J. , Nathwani Nisha , Clark Adrian J. L. , Storr Helen L. , Metherell Louise A. 
Published: March 2014

Context:
Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance of redox regulation in steroidogenesis.

Objective:
We hypothesized that other components of mitochondrial antioxidant systems would be good candidates in the etiology of FGD.

Design:
Whole-exome sequencing was performed on three related patients, and segregation of putative causal variants confirmed by Sanger sequencing of all family members. A TXNRD2-knockdown H295R cell line was created to investigate redox homeostasis.

Setting:
The study was conducted on patients from three pediatric centers in the United Kingdom.

Patients:
Seven individuals from a consanguineous Kashmiri kindred, six of whom presented with FGD between 0.1 and 10.8 years, participated in the study.

Interventions:
There were no interventions.

Main Outcome Measure:
Identification and functional interrogation of a novel homozygous mutation segregating with the disease trait were measured.

Results:
A stop gain mutation, p.Y447X in TXNRD2, encoding the mitochondrial selenoprotein thioredoxin reductase 2 (TXNRD2) was identified and segregated with disease in this extended kindred. RT-PCR and Western blotting revealed complete absence of TXNRD2 in patients homozygous for the mutation. TXNRD2 deficiency leads to impaired redox homeostasis in a human adrenocortical cell line.

Conclusion:
In contrast to the Txnrd2-knockout mouse model, in which embryonic lethality as a consequence of hematopoietic and cardiac defects is described, absence of TXNRD2 in humans leads to glucocorticoid deficiency. This is the first report of a homozygous mutation in any component of the thioredoxin antioxidant system leading to inherited disease in humans.
Cross gender–age trabecular texture analysis in cone beam CT
Authors: Ling H , Yang X , Li P , Megalooikonomou V , Xu Y , Yang J 
Published: March 2014

Objectives: To investigate whether multiple texture features in different regions of interest (ROIs) on cone beam CT (CBCT) are correlated with gender–age variation of trabecular patterns. Methods: CBCT volumes from 96 subjects were used. The data set was divided into four gender–age subgroups, including males younger than 40 years, males older than 40 years, females younger than 40 years and females older than 40 years. For each volume, cubes containing trabecular patterns at four ROIs in the jaws were manually cropped. 18 distinct texture features were calculated and their correlation with gender–age variations at different ROIs was studied through t-test statistical analysis. Results: For the 432 test pairs with different gender–age groups at different ROIs and texture features tested, 149 of them were shown to be statistically different at the 0.05 significance level and 60 of them at the 0.001 significance level. These features can therefore capture changes in trabecular patterns and have the potential to be used for trabecular analysis. Furthermore, fractal features were found to be better than intensity features in separating different gender–age groups. Trabecular patterns in the body of the mandible were more correlated with gender–age changes than other ROIs. Conclusions: Multiple texture features on CBCT were found to be correlated with the cross gender–age variation of trabecular patterns. The results support the use of CBCT for advanced trabecular analysis, including osteoporosis screening tools in the jaws.
Preface
Authors: Dufrêche Jean-François 
Published: March 2014

The 32nd International Conference on Solution Chemistry (ICSC-32) was held 28 August-2 September 2011 in La Grande Motte, France. This conference series covers a wide range of topics related to solution chemistry, such as- thermodynamics, kinetics, and structure- polymers, colloids, interfaces, and membranes- bioinorganic, biophysical, and pharmaceutical problems- supramolecular assemblies and nanostructures- analytical and environmental aspects- solvents and solutions under extreme conditionsFive plenary lectures were given: “Electrochemistry, the challenge of 21st century: From living cells to energy production”, by Dr. Christian Amatore, Paris, France; “Ultrafast studies on chemical and biological systems”, by Prof. Majed Chergui, Lausanne, Switzerland; “Modelling ionic liquids”, by Prof. Paul Madden, Oxford, UK; “Structure and dynamics of liquids and solutions in confinement”, by Prof. Toshio Yamaguchi, Fukuoka, Japan; “Natural ionic liquids and green solution chemistry”, by Prof. Dr. Werner Kunz, Regensburg, Germany.Two special lectures were given in the frame of the “Année Internationale de la Chimie”: “Solution chemistry and preservation of archeological wood: The case of Vasa”, by Prof. Ingmar Persson, Uppsala, Sweden; and “Molecular gastronomy: A solution chemistry problem”, by Hervé This, INRA, France.Twenty-one papers based on lectures presented at the ICSC-32 are included in this issue of Pure and Applied Chemistry. These contributions feature the major themes of the conference, serve as a representative view of current activities in the field of solution chemistry, and demonstrate that solutions still prove to be challenging targets for contemporary physical and chemical research.Jean-François DufrêcheConference Editor
Normatizing the silent drama: Photoplay manuals of the 1910s and early 1920s
Authors: Bailey Terry 
Published: March 2014

Abstract
The first instructional manuals to cover the writing of photoplays for silent drama emerged in 1911. In the wake of ‘Scenario Fever’, their style was often hyperbolic, and they claimed a great need in the film industry for new dramatic scenarists. In truth, few readers of manuals, or clients of the ‘schools’ that often distributed them, attained professional status. This article uses primary and secondary sources to examine the origins and content of the silent screenwriting manuals, and determines that, despite their poor record in fulfilling their ostensible purpose, they served valuable social functions. By overlooking screen drama’s debt to Victorian theatre and vaudeville, they served to normatize screenwriting practice in its own right, and thus helped to legitimize film’s sense of itself as a new medium. The uniform nature of their content, shaped by manual writers who were often working scenarists, suggests their reliability in clarifying aspects of screenwriting practice that lay behind the creation of silent films, and justifies their use as resources in film studies.
Start me up: Lean screenwriting for American entrepreneurial cinema
Authors: Gay Andrew Kenneth 
Published: March 2014

Abstract
This article proposes a new approach to script development modelled after lean software development practices and entrepreneurial startup principles. First, it argues that the Hollywood mode of production and its methods of project development, when applied to microbudget film-making, are inherently wasteful and fail in the face of extreme uncertainty and unpredictability. Second, it argues that entrepreneurial screenwriters and writer/film-makers can adopt lean thinking in order to eliminate waste from their creative labour and enhance learning at every stage of development and production, adding value for their audience. Finally, it argues that inexperienced writer/film-makers are particularly susceptible to the false security of the ‘blueprint’ metaphor, often clinging to an original plan even as it fails them. The flexibility inherent to lean thinking, on the other hand, not only reduces waste but also enhances creativity and collaboration, increasing a project’s chances of success.
What is a digital persona?
Authors: de Kerckhove Derrick , de Almeida Cristina Miranda 
Published: March 2014

Abstract
Digital persona is a part of the individual identity that has been extended into the online sphere to which corresponds a digital unconscious structuring a digitally divided self. It has personal, social, institutional, legal, scientific and technological aspects that have to be reconsidered to allow for new ways of understanding and managing identity. However, the fragmentation of scientific analysis fails to explain what happens to the digital personae in an interdisciplinary way. This is reflected by the current lack of comprehensive framework, the tendency to develop fragmentary management tools and gaps in legal frameworks. In this context society, experts, institutions and groups are still in a fragile unconscious, or pre-conscious phase, regarding the opportunities and problems associated with the management of digital persona. The objective of this article is to offer a first set of comprehensive features that shape the personal and social sense of digital selfhood and identity and provoke a reflection regarding the future personal, social and institutional management of our digital personae. This on-going research aims at contributing to define the digital persona and to develop models and typologies of digital personhood that are still being developed.
Application of PIMNT single crystals for long-range and wide FOV IR
flame detection
Authors: Movchikova Alena , Günther Armin , Neumann Norbert , Heinze Matthias 
Published: March 2014

Abstract
The suitability of single crystalline Lead Indium Niobate –
Lead Magnesium Niobate – Lead Titanate (PIMNT) for application in IR flame
detectors was studied and compared with state-of-the-art Lithium Tantalate
(LTO). Due to their high pyroelectric coefficient, PIMNT-based sensors
provide an increase of the specific detectivity in comparison to standard
LTO-based detectors even at a very small element size. The evaluation shows
good results in the design and the fabrication of the detectors for
long-range and wide field of view (FOV) flame detection.
Absorptionsschichten für thermische Infrarotsensoren
Authors: Schossig Marco , Norkus Volkmar , Gerlach Gerald 
Published: March 2014

Zusammenfassung
Damit thermische Infrarotsensoren,
wie z. B. Bolometer, Thermosäulen und pyroelektrische Detektoren, eine
maximale Sensorleistung erreichen, muss die einfallende Infrarotstrahlung
möglichst vollständig absorbiert werden. Dieser Artikel gibt einen
Überblick zu kommerziell eingesetzten Absorptionsschichten sowie
Neuentwicklungen, die durch Fortschritte in der Nanotechnologie und auf dem
Gebiet der Plasmonik ermöglicht wurden.
How to Review a Paper
Authors: Oler Derek K. , Pasewark William R. 
Published: March 2014

ABSTRACT
This paper introduces the review process to new researchers, describes the institutional background for reviews, and provides advice to reviewers. The objectives of a quality review are (1) to assist the editor in his/her gatekeeping role, and (2) to assist the authors in improving their work. We argue that the review process plays a critical role in the dissemination of research that ultimately provides credibility to the body of academic knowledge. This process relies on expert, anonymous reviews by established researchers (typically those who have already published in top journals on similar topics). Because reviewers are relatively scarce, and anonymous, the review process also relies on the personal ethics of reviewers. Invitations to review should only be accepted if the researcher has the skill, time, objectivity, and inclination to do a quality review. A quality review should consider the contribution, execution, and conclusions of the paper.
Empirical Validation of the Information–Motivation–Behavioral Skills Model of Diabetes Medication Adherence: A Framework for Intervention
Authors: Mayberry Lindsay S. , Osborn Chandra Y. 
Published: March 2014

OBJECTIVE
Suboptimal adherence to diabetes medications is prevalent and associated with unfavorable health outcomes, but it remains unclear what intervention content is necessary to effectively promote medication adherence in diabetes. In other disease contexts, the Information–Motivation–Behavioral skills (IMB) model has effectively explained and promoted medication adherence and thus may have utility in explaining and promoting adherence to diabetes medications. We tested the IMB model’s hypotheses in a sample of adults with type 2 diabetes.

RESEARCH DESIGN AND METHODS
Participants (N = 314) completed an interviewer-administered survey and A1C test. Structural equation models tested the effects of diabetes medication adherence-related information, motivation, and behavioral skills on medication adherence and the effect of medication adherence on A1C.

RESULTS
The IMB elements explained 41% of the variance in adherence, and adherence explained 9% of the variance in A1C. As predicted, behavioral skills had a direct effect on adherence (β = 0.59; P &lt; 0.001) and mediated the effects of information (indirect effect 0.08 [0.01–0.15]) and motivation (indirect effect 0.12 [0.05–0.20]) on adherence. Medication adherence significantly predicted glycemic control (β = −0.30; P &lt; 0.001). Neither insulin status nor regimen complexity was associated with adherence, and neither moderated associations between the IMB constructs and adherence.

CONCLUSIONS
The results support the IMB model’s predictions and identify modifiable and intervenable determinants of diabetes medication adherence. Medication adherence promotion interventions may benefit from content targeting patients’ medication adherence-related information, motivation, and behavioral skills and assessing the degree to which change in these determinants leads to changes in medication adherence behavior.
A Feasibility Study of a 3-Day Basal-Bolus Insulin Delivery Device in Individuals With Type 2 Diabetes
Authors: Mader Julia K. , Lilly Leslie C. , Aberer Felix , Korsatko Stefan , Strock Ellie , Mazze Roger S. , Damsbo Peter , Pieber Thomas R. 
Published: March 2014

OBJECTIVE
This study tested the feasibility of transition from multiple daily injections (MDI) to a 3-day, basal-bolus insulin delivery device (PaQ) for type 2 diabetes (T2D).

RESEARCH DESIGN AND METHODS
Twenty MDI-treated individuals with T2D with HbA1c ≤9% (75 mmol/mol) were enrolled in a single-center, single-arm pilot study, lasting three 2-week periods: baseline (MDI), transition to PaQ, and PaQ therapy. Feasibility of use, glycemic control, safety, and patient satisfaction were assessed.

RESULTS
Nineteen participants transitioned to PaQ treatment and demonstrated competency in assembling, placing, and using the device. Self-monitored blood glucose and blinded continuous glucose-monitoring data showed glycemic control similar to MDI. Study participants reported high satisfaction and device acceptance.

CONCLUSIONS
PaQ treatment is both feasible and acceptable in individuals with T2D. Transition from MDI is easy and safe. PaQ treatment might lead to better therapy adherence and improvements in glycemic control and clinical outcomes.
PIKfyve, a Class III Lipid Kinase, Is Required for TLR-Induced Type I IFN Production via Modulation of ATF3
Authors: Cai Xinming , Xu Yongyao , Kim You-Me , Loureiro Joseph , Huang Qian 
Published: March 2014

Abstract
Type I IFN plays a key role in antiviral responses. It also has been shown that deregulation of type I IFN expression following abnormal activation of TLRs contributes to the pathogenesis of systemic lupus erythematosus. In this study, we find that PIKfyve, a class III lipid kinase, is required for endolysosomal TLR-induced expression of type I IFN in mouse and human cells. PIKfyve binds to phosphatidylinositol 3-phosphate and synthesizes phosphatidylinositol 3,5-bisphosphate, and plays a critical role in endolysosomal trafficking. However, PIKfyve modulates type I IFN production via mechanisms independent of receptor and ligand trafficking in endolysosomes. Instead, pharmacological or genetic inactivation of PIKfyve rapidly induces expression of the transcription repressor ATF3, which is necessary and sufficient for suppression of type I IFN expression by binding to its promoter and blocking its transcription. Thus, we have uncovered a novel phosphoinositide-mediated regulatory mechanism that controls TLR-mediated induction of type I IFN, which may provide a new therapeutic indication for the PIKfyve inhibitor.
Multiple Visions, Multiple Viewpoints: Apparitions in a Polish-German Borderland, 1877-1880
Authors: Dabrowski Patrice M. 
Published: March 2014

AbstractThe article views the little-known apparitions of the Blessed Virgin Mary in the village of Dittrichswalde (Gietrzwałd) in 1877-80 through the prism of the varied religious imagery they evoked and promoted. After considering pre-1877 fixed images of and attitudes toward the Virgin Mary in their historical and cultural context in the Polish-German borderland of Ermland (Warmia), the initial images of the apparitions as well as the three primary dramatis personae, two young female visionaries and the parish priest, are introduced. Further visionaries, the pilgrims, the official ecclesiastic investigation (including the doctors’ examination of the visionaries), and a number of disquieting revelations complicate the picture more, as did the identification of Poles from across the German-Polish border as well as the local Warmians. Ultimately, a multiplicity of religious images, fluid as well as static, became available to the faithful during this challenging period for the Roman Catholic Church that was the Kulturkampf in the German Empire.
Preservation of Kidneys by Machine Perfusion Influences Gene Expression and May Limit Ischemia/Reperfusion Injury
Authors: Wszola Michal , Kwiatkowski Artur , Domagala Piotr , Wirkowska Agnieszka , Bieniasz Monika , Diuwe Piotr , Kieszek Rafał , Durlik Magdalena , Chmura Andrzej 
Published: March 2014

Context Machine perfusion improves graft survival. Histopathologic analysis reveals a lower incidence of chronic rejection and interstitial fibrosis in kidneys preserved with machine perfusion. Ischemic/reperfusion injury may help to explain these findings. Objective To assess the activation of genes correlated with ischemic/reperfusion injury in kidneys preserved under different conditions before transplant. Design/Patients Between 2005 and 2006, 69 kidney biopsy specimens were collected and patients were followed up for 5 years after that. Intervention Before transplant, kidneys were preserved with machine perfusion or cold storage. Donors from the machine perfusion and cold storage groups did not differ with regard to age, sex, or hemodynamic status. Recipients were divided into 5 groups: expanded criteria donor–machine perfusion (n = 16), standard criteria donor–machine perfusion (n = 10), expanded criteria donor–cold storage (n = 9), and standard criteria donor–cold storage (n = 27); 7 kidneys were retrieved from living related donors. Main Outcome Measures Biopsies were done 30 minutes after reperfusion. Interleukin-1β, vascular endothelial growth factor, heme oxygenase-1, and hypoxia-inducible factor–1 gene expression levels were analyzed. Results Mean expression levels of hypoxia-inducible factor–1α were significantly higher in the cold storage groups, and lower in the machine perfusion and living-related donor groups. Five-year graft survival was significantly ( P < .05) lower in the expanded criteria donor–cold storage group (66%) than in the standard criteria donor–machine perfusion group (90%). Machine perfusion influences gene expression related to hypoxia during reperfusion and may improve the long-term results of kidney transplant.
Assessing the contribution of different factors in regional climate model projections using the factor separation method
Authors: Torma Csaba , Giorgi Filippo 
Published: March 2014

AbstractThis study applies the factor separation (FS) method to investigate the contributions of different factors, along with their synergy, on a set of regional climate model (RCM) projections for the Mediterranean region. The FS method is applied to six projections for the period 1970–2100 performed with the regional model RegCM4 over the Med‐CORDEX domain. Two different sets of factors are intercompared, namely the driving global climate model (GCM) boundary conditions against two model physics settings (convection scheme and irrigation). We demonstrate the usefulness of the FS method to assess different sources of uncertainty in RCM‐based regional climate projections.
Resource utilization and end‐of‐life care in a US hospital following medical emergency team‐implemented do not resuscitate orders
Authors: Dargin James M. , Mackey Caleb G. , Lei Yuxiu , Liesching Timothy N. 
Published: March 2014

BACKGROUNDMedical emergency teams frequently implement do not resuscitate orders, but little is known about end‐of‐life care in this population.OBJECTIVETo examine resource utilization and end‐of‐life care following medical emergency team‐implemented do not resuscitate orders.DESIGNRetrospective review.SETTINGSingle, tertiary care center.PATIENTSConsecutive adult inpatients requiring a medical emergency team activation over 1 year.MEASUREMENTSChanges to code status, time spent on medical emergency team activations, frequency of palliative care consultation, discharges with hospice care.INTERVENTIONSNone.RESULTSWe observed 1156 medical emergency team activations in 998 patients. Five percent (58/1156) resulted in do not resuscitate orders. The median time spent on activations with a change in code status was longer than activations without a change (66 vs 60 minutes, P = 0.05). Patients with a medical emergency team‐implemented do not resuscitate order had a higher inpatient mortality (43 vs 27%, P = 0.04) and were less likely to be discharged with hospice at the end of life than patients with a preexisting do not resuscitate order (4 vs 29%, P = 0.01). There was no difference in palliative care consultation in patients with a preexisting do not resuscitate versus medical emergency team‐implemented do not resuscitate order (20% vs 12%, P = 0.39).CONCLUSIONSDespite high mortality, patients with medical emergency team‐implemented do not resuscitate orders had a relatively low utilization of end‐of‐life resources, including palliative care consultation and home hospice services. Coordinated care between medical emergency teams and inpatient palliative care services may help to improve end‐of‐life care. Journal of Hospital Medicine 2014;9:372–378. © 2014 Society of Hospital Medicine
The Effect of the Japan 2011 Disaster on Nuclear and Alternative Energy Stocks Worldwide: An Event Study
Authors: Ferstl Robert , Utz Sebastian , Wimmer Maximilian 
Published: March 2014

AbstractThis event study investigates the impact of the Japanese nuclear disaster in Fukushima-Daiichi on the daily stock prices of French, German, Japanese, and U.S. nuclear utility and alternative energy firms. Hypotheses regarding the (cumulative) abnormal returns based on a three-factor model are analyzed through joint tests by multivariate regression models and bootstrapping. Our results show significant abnormal returns for Japanese nuclear utility firms during the one-week event window and the subsequent four-week post-event window. Furthermore, while French and German nuclear utility and alternative energy stocks exhibit significant abnormal returns during the event window, we cannot confirm abnormal returns for U.S. stocks.