bluuebunny/crossref_metadata_2025_split huggingface dataset:
Postural tachycardia syndrome (POTS) and other autonomic disorders in antiphospholipid (Hughes) syndrome (APS)
Authors: Schofield JR , Blitshteyn S , Shoenfeld Y , Hughes GRV 
Published: February 2014

Background Antiphospholipid syndrome (APS) is an autoimmune hypercoagulable disorder that has been shown to cause a large number of cardiac and neurological manifestations. Two recent studies have demonstrated abnormalities in cardiovascular autonomic function testing in APS patients without other cardiovascular or autoimmune disease. However, an association between autonomic disorders such as postural tachycardia syndrome and APS has not previously been described. Methods and results Data were obtained by retrospective chart review. We identified 15 patients who have been diagnosed with APS and an autonomic disorder. The median age of the patients at the time of data analysis was 39 years. The autonomic disorders seen in these patients included postural tachycardia syndrome, neurocardiogenic syncope and orthostatic hypotension. The majority of patients (14/15) were female and the majority (14/15) had non-thrombotic neurological manifestations of APS, most commonly migraine, memory loss and balance disorder. Many also had livedo reticularis (11/15) and Raynaud’s phenomenon (nine of 15). In some patients, the autonomic manifestations improved with anticoagulation and/or anti-platelet therapy; in others they did not. Two patients with postural tachycardia syndrome who failed to improve with the usual treatment of APS have been treated with intravenous immunoglobulin with significant improvement in their autonomic symptoms. Conclusion We believe that autonomic disorders in APS may represent an important clinical association with significant implications for treatment.
Effectiveness of Sweden’s Contact Family/Person Program for Older Children
Authors: Brännström Lars , Vinnerljung Bo , Hjern Anders 
Published: February 2014

Objectives: To estimate the impacts of Sweden’s Contact Family/Person Program (CFPP) for older children on participants’ long-term outcomes related to mental health problems, illicit drug use, public welfare receipt, placement in out-of-home care, educational achievement, and offending. Method: We analyzed longitudinal register data on more than 1,000,000 individuals born between 1973 and 1984, including 6,386 individuals who entered CFPP at 10–13 years of age, with a follow-up until 2008. The program impact was estimated by means of propensity score matching. Results: Outcomes for those who had received the intervention were not better than that for matched peers who did not receive the intervention. Conclusions: The results did not find support for CFPP effectiveness in reducing risks of compromised long-term development in older children.
Magnetic resonance imaging in acute mastoiditis
Authors: Platzek Ivan , Kitzler Hagen H , Gudziol Volker , Laniado Michael , Hahn Gabriele 
Published: February 2014

Background In cases of suspected mastoiditis, imaging is used to evaluate the extent of mastoid destruction and possible complications. The role of magnetic resonance imaging (MRI) in mastoiditis has not been systematically evaluated. Purpose To assess the diagnostic performance of MRI in patients with suspected acute mastoiditis. Material and Methods Twenty-three patients with suspected acute mastoiditis were included in this retrospective study (15 boys, 8 girls; mean age, 2 years 11 months). All patients were examined on a 1.5 T MRI system. The MRI examination included both enhanced and non-enhanced turbo spin echo (TSE), diffusion-weighted images, and venous time-of-flight magnetic resonance angiography (TOF MRA) for the evaluation of the venous sinuses. Surgical findings, as well as clinical and imaging follow-up were used as the standard of reference. The sensitivity and accuracy of MRI for mastoiditis and subperiosteal abscesses was calculated. Results Twenty (87%) of 23 patients had mastoiditis, and 12 (52%) of 23 patients had a subperiosteal abscess in addition to mastoiditis. Mastoiditis and subperiosteal abscesses were identified by MRI in all cases. Sensitivity for mastoiditis was 100%, specificity was 66%, and accuracy was 86%. Sensitivity for subperiosteal abscesses was 100% and accuracy was 100%. Conclusion Multiparametric MRI has high accuracy for mastoiditis and subperiosteal abscesses.
Long-term outcome with dasatinib after imatinib failure in chronic-phase chronic myeloid leukemia: follow-up of a phase 3 study
Authors: Shah Neil P. , Guilhot François , Cortes Jorge E. , Schiffer Charles A. , le Coutre Philipp , Brümmendorf Tim H. , Kantarjian Hagop M. , Hochhaus Andreas , Rousselot Philippe , Mohamed Hesham , Healey Diane , Cunningham Michael , Saglio Giuseppe 
Published: February 2014

Key Points
Imatinib-resistant/-intolerant patients with chronic myeloid leukemia in chronic phase can experience long-term benefit with dasatinib. Early (3- and 6-month) molecular and cytogenetic responses were associated with improved progression-free survival and overall survival.
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity
Authors: Mir Hina , Raza Syed Irfan , Touseef Muhammad , Memon Mazhar Mustafa , Khan Muhammad Nasim , Jaffar Sulman , Ahmad Wasim 
Published: February 2014

Abstract

Background
A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder.

Methods
Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer.

Results
DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*).

Conclusions
Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals.
RAS mutations in early age leukaemia modulated by NQO1 rs1800566 (C609T) are associated with second-hand smoking exposures
Authors: Andrade Francianne Gomes , Furtado-Silva Juliana Montibeller , Gonçalves Bruno Alves de Aguiar , Thuler Luiz Claudio Santos , Barbosa Thayana Conceição , Emerenciano Mariana , Siqueira André , Pombo-de-Oliveira Maria S ,   Brazilian Collaborative Study Group of Infant Acute Leukaemia
Published: February 2014

AbstractBackgroundDeregulation of the MAPK genes signalling caused by somatic mutations have been implied in leukaemia pathogenesis, includingRASmutation (RASmut) in acute myeloid leukaemia (AML), which has been associated with intra-uterine chemical exposures. A case-case study was conducted in order to explore maternal and child exposures to tobacco smoking associations with early age leukaemia (EAL).MethodsCovariables of reference wereMLLrearrangements (MLL-r),RASmutandNQO1rs1800566 (C609T). Samples from 150 acute lymphoblastic leukaemia (ALL) and 85 AML were included. Maternal exposures were assessed using a structured questionnaire with demographic, personal habits and residence history information. Restriction fragment length polymorphism and denaturing high performance liquid chromatography were used to screenFLT3, KRAS,andNRASmutations; direct sequencing was performed to validate the results.NQO1polymorphism was detected by real-time allelic discrimination technique.ResultsOverall,RASmutwere detected in 28.7% of EAL cases;BRAFmutwas found only in one AML patient. Higher rate ofKRASmutwas found in ALL (30.3%) compared to AML (20.8%) withMLL-r;RASmutshowed an association with second-hand tobacco smoking exposures (OR, 3.06, 95% CI, 1.03-9.07). A considerable increased risk for EAL with the combination ofRASmutandNQO1609CT (OR, 4.24, 95% CI, 1.24-14.50) was observed.ConclusionsOur data demonstrated the increased risk association between maternal smoking and EAL withMLL-r. Additionally, suggests that children second-hand tobacco exposures are associated with increased risk of EAL withRASmutmodulated byNQO1rs1800566 (C609T).
Iatrogenic hypervitaminosis D as an unusual cause of persistent vomiting: a case report
Authors: Bansal Rinkesh Kumar , Tyagi Pankaj , Sharma Praveen , Singla Vikas , Arora Veronica , Bansal Naresh , Kumar Ashish , Arora Anil 
Published: February 2014

Abstract

Introduction
Vitamin D is increasingly recognized to have several beneficial effects. Vitamin D deficiency is widely prevalent. Physicians often treat patients with high doses of vitamin D for various ailments without any monitoring for adverse effects and the prescribed doses often far exceed requirements resulting in toxicity. We present here a classic case of iatrogenic hypervitaminosis D, which presented with persistent vomiting and acute renal failure.

Case presentation
Here we present a case of a 45-year-old Asian Indian woman who presented to us with persistent vomiting the cause of which was iatrogenic hypervitaminosis D. She was treated with intravenous fluid, diuretics and calcitonin and had clinical improvement.

Conclusions
We suggest that in any patient presenting with persistent vomiting and hypercalcemia, particularly in the presence of normal parathyroid hormone, a diagnosis of overdose of vitamin D should be suspected. Its treatment not only alleviates symptoms but also prevents ongoing acute kidney injury.
Assessing THK523 selectivity for tau deposits in Alzheimer’s disease and non–Alzheimer’s disease tauopathies
Authors: Fodero-Tavoletti Michelle T , Furumoto Shozo , Taylor Leanne , McLean Catriona A , Mulligan Rachel S , Birchall Ian , Harada Ryuichi , Masters Colin L , Yanai Kazuhiko , Kudo Yukitsuka , Rowe Christopher C , Okamura Nobuyuki , Villemagne Victor L 
Published: February 2014

Abstract
Introduction
The introduction of tau imaging agents such as 18F-THK523 offers new hope for the in vivo assessment of tau deposition in tauopathies such as Alzheimer’s disease (AD), where preliminary 18F-THK523-PET studies have demonstrated significantly higher cortical retention of 18F-THK523 in AD compared to age-matched healthy individuals. In addition to AD, tau imaging with PET may also be of value in assessing non-AD tauopathies, such as corticobasal degeneration (CBD), progressive supranuclear palsy (PSP) and Pick’s disease (PiD).

Methods
To further investigate the ability of THK523 to recognize tau lesions, we undertook immunohistochemical and fluorescence studies in serial brain sections taken from individuals with AD (n = 3), CBD (n = 2), PSP (n = 1), PiD (n = 2) and Parkinson’s disease (PD; n = 2). In addition to the neuropathological analysis, one PSP patient had undergone a 18F-THK523 PET scan 5 months before death.

Results
Although THK523 labelled tau-containing lesions such as neurofibrillary tangles and neuropil threads in the hippocampus and frontal regions of AD brains, it failed to label tau-containing lesions in non-AD tauopathies. Furthermore, though THK523 faintly labelled dense-cored amyloid-β plaques in the AD frontal cortex, it failed to label α-synuclein-containing Lewy bodies in PD brain sections.

Conclusion
The results of this study suggest that 18F-THK523 selectively binds to paired helical filament tau in AD brains but does not bind to tau lesions in non-AD tauopathies, or to α-synuclein in PD brains.
Development of a simple score to predict outcome for unresponsive wakefulness syndrome
Authors: Kang Xiao-gang , Li Li , Wei Dong , Xu Xiao-xia , Zhao Rui , Jing Yun-yun , Su Ying-ying , Xiong Li-ze , Zhao Gang , Jiang Wen 
Published: February 2014

Abstract
Introduction
Accurate assessment of prognosis for patients with unresponsive wakefulness syndrome (UWS; formerly vegetative state) may help clinicians and families guide the type and intensity of therapy; however, there is no suitable and accurate means to predict the outcome so far. We aimed to develop a simple bedside scoring system to predict the likelihood of awareness recovery in patients with UWS.

Methods
We prospectively enrolled 56 patients (age range 10 to 73 years) with UWS 3 to 12 weeks post-onset. We collected demographic data and performed neurological, serological and neurophysiological tests at study entry. Each patient received a one year follow-up, during which awareness recovery was assessed by experienced physicians on the basis of clinical criteria. Univariate and multivariable analyses were employed to assess the relationships between predictors and awareness recovery.

Results
A total of 56 participants were included in the study; of these, 24 patients recovered awareness, 3 with moderate disabilities, 8 with severe disabilities, 12 were in a minimally conscious state, and 1 died after recovery. During the study, 23 patients remained in UWS and 9 died in UWS. Motor response, type of brain injury, electroencephalogram reactivity, sleep spindles and N20 were shown to be independent predictors for awareness recovery. Based on their coefficients in the model, we assigned these predictors with 1 point each and created a 5-point score for prediction of awareness recovery. The resulting score showed good predictive accuracy in the derivation cohort. The area under the receiver operating characteristic curve for the score was 0.918 with 87.50% sensitivity.

Conclusion
This simple bedside prognostic score can be used to predict the probability of awareness recovery in UWS, thus provide families and clinicians with useful outcome information.
Patient engagement as a risk factor in personalized health care: a systematic review of the literature on chronic disease
Authors: Simmons Leigh Ann , Wolever Ruth Q , Bechard Elizabeth M , Snyderman Ralph 
Published: February 2014

Abstract
Background
The role of patient engagement as an important risk factor for healthcare outcomes has not been well established. The objective of this article was to systematically review the relationship between patient engagement and health outcomes in chronic disease to determine whether patient engagement should be quantified as an important risk factor in health risk appraisals to enhance the practice of personalized medicine.

Methods
A systematic review of prospective clinical trials conducted between January 1993 and December 2012 was performed. Articles were identified through a medical librarian-conducted multi-term search of Medline, Embase, and Cochrane databases. Additional studies were obtained from the references of meta-analyses and systematic reviews on hypertension, diabetes, and chronic care. Search terms included variations of the following: self-care, self-management, self-monitoring, (shared) decision-making, patient education, patient motivation, patient engagement, chronic disease, chronically ill, and randomized controlled trial. Studies were included only if they: (1) compared patient engagement interventions to an appropriate control among adults with chronic disease aged 18 years and older; (2) had minimum 3 months between pre- and post-intervention measurements; and (3) defined patient engagement as: (a) understanding the importance of taking an active role in one’s health and health care; (b) having the knowledge, skills, and confidence to manage health; and (c) using knowledge, skills and confidence to perform health-promoting behaviors. Three authors and two research assistants independently extracted data using predefined fields including quality metrics.

Results
We reviewed 543 abstracts to identify 10 trials that met full inclusion criteria, four of which had ‘high’ methodological quality (Jadad score ≥ 3). Diverse measurement of patient engagement prevented robust statistical analyses, so data were qualitatively described. Nine studies documented improvements in patient engagement. Five studies reported reduction in clinical markers of disease (for example HbA1C). All studies reported improvements in self-reported health status.

Conclusions
This review suggests patient engagement should be quantified as part of a comprehensive health risk appraisal given its apparent value in helping individuals to effectively self-manage chronic disease. Patient engagement measures should include assessment of the knowledge, confidence and skills to prevent and manage chronic disease, plus the behaviors to do so.
Oncogenic mutations produce similar phenotypes in Drosophila tissues of diverse origins
Authors: Stickel Stefanie , Su Tin Tin 
Published: February 2014

ABSTRACT
An emerging interest in oncology is to tailor treatment to particular cancer genotypes, i.e. oncogenic mutations present in the tumor, and not the tissue of cancer incidence. Integral to such a practice is the idea that the same oncogenic mutation(s) produces similar outcomes in different tissues. To test this idea experimentally, we studied tumors driven by a combination of RasV12 and scrib1 mutations in Drosophila larvae. We found that tumors induced in tissues of neural ectodermal and mesodermal origins behaved similarly in every manner examined: cell cycle checkpoints, apoptosis, cellular morphology, increased aneuploidy and response to Taxol. We conclude that oncogenic effects override tissue-specific differences, at least for the mutations, tissues, and phenotypes studied herein.
Ras-dva1 small GTPase regulates telencephalon development in Xenopus laevis embryos by controlling Fgf8 and Agr signaling at the anterior border of the neural plate
Authors: Tereshina Maria B. , Ermakova Galina V. , Ivanova Anastasiya S. , Zaraisky Andrey G. 
Published: February 2014

ABSTRACT
We previously found that the small GTPase Ras-dva1 is essential for the telencephalic development in Xenopus laevis because Ras-dva1 controls the Fgf8-mediated induction of FoxG1 expression, a key telencephalic regulator. In this report, we show, however, that Ras-dva1 and FoxG1 are expressed in different groups of cells; whereas Ras-dva1 is expressed in the outer layer of the anterior neural fold, FoxG1 and Fgf8 are activated in the inner layer from which the telencephalon is derived. We resolve this paradox by demonstrating that Ras-dva1 is involved in the transduction of Fgf8 signal received by cells in the outer layer, which in turn send a feedback signal that stimulates FoxG1 expression in the inner layer. We show that this feedback signal is transmitted by secreted Agr proteins, the expression of which is activated in the outer layer by mediation of Ras-dva1 and the homeodomain transcription factor Otx2. In turn, Agrs are essential for maintaining Fgf8 and FoxG1 expression in cells at the anterior neural plate border. Our finding reveals a novel feedback loop mechanism based on the exchange of Fgf8 and Agr signaling between neural and non-neural compartments at the anterior margin of the neural plate and demonstrates a key role of Ras-dva1 in this mechanism.
Chiral Incomplete-cubane-type MnIII3O4 Clusters Containing a µ3-Methoxido or Hydroxido
Authors: Inoue Marina , Suzuki Takayoshi , Sunatsuki Yukinari , Fuyuhiro Akira , Re Nazzareno 
Published: February 2014

Abstract
Two new cluster compounds having chiral incomplete-cubane-type MnIII3O4 cores were synthesized using (2S)-2-hydroxy-4-(salicylideneamino)butyrate (H2L−) and characterized by X-ray analysis as well as magnetic susceptibility and spectroscopic measurements. Compound 1 contains a [MnIII3(L)3(µ3-OMe)]− cluster anion, while compound 2 prepared in water has a heptanuclear structure bearing two [MnIII3(L)3(µ3-OH)]− clusters connected by a MnII(H2O)4 fragment. In both compounds, a moderate intracluster MnIII···MnIII ferromagnetic interaction was observed. It was also found that the MnIII3O4 cluster cores are maintained in solution.
Controlling the Rotation of Porphyrin Units in Ethynyl-linked Porphyrin Trimers for Dye-sensitized Solar Cells by Anchoring onto TiO2 Surface
Authors: Hamamura Tomofumi , Nakazaki Jotaro , Uchida Satoshi , Kubo Takaya , Segawa Hiroshi 
Published: February 2014

Abstract
An ethynyl-linked porphyrin trimer bearing carboxyphenyl anchoring groups at all the porphyrin units becomes planar upon adsorption onto TiO2, showing the Q band absorption and IPCE maximum at longer wavelengths.
Diasporas and Outsourcing: Evidence from oDesk and India
Authors: Ghani Ejaz , Kerr William R. , Stanton Christopher 
Published: February 2014

We examine the role of the Indian diaspora in the outsourcing of work to India. Our data are taken from oDesk, the world's largest online platform for outsourced contracts. Despite oDesk minimizing many of the frictions that diaspora connections have traditionally overcome, diaspora connections still matter on oDesk, with ethnic Indians substantially more likely to choose a worker in India. This higher placement is the result of a greater likelihood of choosing India for the initial contract and substantial path dependence in location choices. We further examine wage and performance outcomes of outsourcing as a function of ethnic connections. Our examination of potential rationales for the greater ethnic-based placement of contracts assesses taste-based preferences and information differences. This paper was accepted by Lee Fleming, entrepreneurship and innovation.
The Risk Preferences of U.S. Executives
Authors: Brenner Steffen 
Published: February 2014

In this paper, I elicit risk attitudes of U.S. executives by calibrating a subjective option valuation model for option exercising data (1996 to 2008), yielding approximately 65,000 values of relative risk aversion (RRA) for almost 7,000 executives. The observed behavior is generally consistent with moderate risk aversion and a median (mean) RRA close to one (three). Values are validated for chief executive officers (CEOs) by testing theory-based predictions on the influence of individual characteristics on risk preferences such as gender, marital status, religiosity, and intelligence. Senior managers such as CEOs, presidents, and chairpersons of the boards of directors are significantly less risk averse than non-senior executives. RRA heterogeneity is strongly correlated with sector membership and firm-level variables such as size, performance, and capital structure. Alternative factors influencing option exercises are tested for their influence on RRA values. This paper was accepted by Brad Barber, finance.