bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation in the caveolin‐3 gene causes asymmetrical distal myopathy
Authors: Chen Juanjuan , Zeng Wenshuang , Han Chunxi , Wu Jun , Zhang Haiou , Tong Xiaoxin 
Published: March 2016

Mutations in the gene encoding caveolin‐3 (CAV3) can cause a broad spectrum of clinical phenotypes, including limb girdle muscular dystrophy, rippling muscle disease, distal myopathy (MD), idiopathic persistent elevation of serum creatine kinase and cardiomyopathy. MD is a relatively rare subtype of caveolinopathy. Here, we report a sporadic case of a middle‐aged female Chinese patient with MD in which a CAV3 mutation was identical to that previously reported in cases of rippling muscle disease. T1‐weighted enhanced skeletal muscle MRI of the lower limbs showed an abnormal signal in the distal and proximal muscles. A muscle biopsy revealed moderate dystrophic changes, and immunohistochemical staining showed reduced CAV‐3 expression in the plasmalemma. Genetic analysis revealed a heterozygous c.136G > A (p.Ala46Thr) CAV3 mutation that appeared to be de novo because it was absent from the patient's parents. This study suggested that the CAV3 c.136G > A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes.
Validating endpoints for therapeutic trials in fecal incontinence
Authors: Noelting J. , Zinsmeister A. R. , Bharucha A. E. 
Published: March 2016

AbstractBackgroundA 50% or greater reduction in the frequency of fecal incontinence (FI) recorded with daily bowel diaries is the primary endpoint in clinical trials of FI. Whether this difference is clinically important is unknown. The relationship between FI symptoms recorded with daily and weekly instruments is unknown. The contribution of psychological factors to quality of life (QOL) in FI is unclear.MethodsFecal incontinence severity was assessed with daily bowel diaries and periodic questionnaires (fecal incontinence severity score [FISS], FIQOL, 36‐Item Short Form Health Survey [SF‐36], and hospital anxiety and depression scales) for 4 weeks before and during double‐blind randomization to placebo or clonidine in 44 women with FI. The reduction in FI frequency was compared to the minimal clinically important difference (MCID) computed from the FISS. Endpoints of FI were compared between daily and weekly diaries.Key ResultsThe FISS exceeded the MCID in 75% and 83% of patients in whom the FI frequency declined by 50–74% and ≥75% respectively. Parameters of FI measured with daily and weekly instruments were significantly correlated. The daily parameters explained 71% of the inter‐patient variation in the FISS. The SF‐36 health scores, rather than the FISS rating, explained a majority of the inter‐subject variation in FIQOL.Conclusions & InferencesMost patients who report a ≥50% reduction in FI frequency experience a clinically important improvement. Weekly questionnaires accurately assess the severity of FI. Self‐reported physical and mental health explained a greater proportion of the variance in FIQOL than FI symptom severity.
Evolutionary analysis of iron (Fe) acquisition system in Marchantia polymorpha
Authors: Lo Jing‐Chi , Tsednee Munkhtsetseg , Lo Ying‐Chu , Yang Shun‐Chung , Hu Jer‐Ming , Ishizaki Kimitsune , Kohchi Takayuki , Lee Der‐Chuen , Yeh Kuo‐Chen 
Published: March 2016

Summary

To acquire appropriate iron (Fe), vascular plants have developed two unique strategies, the reduction‐based strategy I of nongraminaceous plants for Fe2+ and the chelation‐based strategy II of graminaceous plants for Fe3+. However, the mechanism of Fe uptake in bryophytes, the earliest diverging branch of land plants and dominant in gametophyte generation is less clear.

Fe isotope fractionation analysis demonstrated that the liverwort Marchantia polymorpha uses reduction‐based Fe acquisition. Enhanced activities of ferric chelate reductase and proton ATPase were detected under Fe‐deficient conditions. However, M. polymorpha did not show mugineic acid family phytosiderophores, the key components of strategy II, or the precursor nicotianamine.

Five ZIP (ZRT/IRT‐like protein) homologs were identified and speculated to be involved in Fe uptake in M. polymorpha. MpZIP3 knockdown conferred reduced growth under Fe‐deficient conditions, and MpZIP3 overexpression increased Fe content under excess Fe.

Thus, a nonvascular liverwort, M. polymorpha, uses strategy I for Fe acquisition. This system may have been acquired in the common ancestor of land plants and coopted from the gametophyte to sporophyte generation in the evolution of land plants.
Innate lymphoid cells as novel regulators of obesity and its‐associated metabolic dysfunction
Authors: Yang D. , Yang W. , Tian Z. , van Velkinburgh J. C. , Song J. , Wu Y. , Ni B. 
Published: March 2016

SummaryThe increased prevalence of obesity worldwide has been accompanied by increases in risk and rates of obesity‐associated metabolic dysfunctions, such as insulin resistance. The chronic, low‐grade inflammatory condition of obesity highlights the pathophysiological link between the immune system and the metabolic system, which has yet to be fully understood. Recent studies of obesity have started to uncover potential regulatory roles for the innate lymphoid cells (ILCs), which under normal conditions serve to regulate development of lymphoid tissue and function of the mucosal immune system. The ILCs are a newly identified immune cell population with complicated composition and subsequently diverse and dynamic functions. Studies to determine the distribution profile of the various ILCs in adipose tissue provide intriguing clues as to their regulatory capacity in obesity and its associated metabolic dysfunctions. Here, we review the recent findings supporting a role for ILCs as regulators of obesity or its associated insulin resistance, and discuss the potential underlying molecular mechanism as well as its promise as a therapeutic target for clinical applications. © 2016 World Obesity
Neonatal risk factors of atopic dermatitis in Denmark – Results from a nationwide register‐based study
Authors: Egeberg Alexander , Andersen Yuki M. F. , Gislason Gunnar , Skov Lone , Thyssen Jacob P. 
Published: March 2016

AbstractBackgroundAtopic dermatitis (AD) is a chronic inflammatory skin condition with a multifactorial etiopathogenesis. Studies have suggested that several perinatal factors may influence the risk of AD in early childhood. We investigated possible neonatal risk factors such as jaundice, blue light phototherapy, birthweight, gestational age at birth, and season of birth on the risk of developing AD in the first 5 years of life.Materials & MethodsData were collected through Danish nationwide administrative registers. All newborn children between 1997 and 2007 (n = 673,614) were included in the cohort. Incidence rate ratios (IRRs) were estimated with 95% confidence intervals (95% CIs) by multivariate Poisson regression analyses.ResultsWe identified a total of 85,743 children with AD in the first 5 years of life. The risk of AD was slightly increased in children with neonatal jaundice (IRR 1.13 [95% CI 1.06–1.21]). Preterm birth was inversely associated with the risk of AD (IRR 0.74, [95% CI 0.68–0.81]) as well as low birthweight (IRR 0.68, [95% CI 0.61–0.75]). Children born in fall and winter seasons had an increased risk of AD compared to spring and summer. No association between neonatal blue light therapy and the risk of AD was found.ConclusionsLow birthweight and preterm birth were inversely associated with AD, while neonatal jaundice and cold seasons of birth were associated with an increased risk of AD.
Pediatric anesthesiology fellow education: is a simulation‐based boot camp feasible and valuable?
Authors: Ambardekar Aditee P. , Singh Devika , Lockman Justin L. , Rodgers David L. , Hales Roberta L. , Gurnaney Harshad G. , Nathan Aruna , Deutsch Ellen S. 
Published: March 2016

SummaryBackgroundPediatric anesthesiologists must manage crises in neonates and children with timely responses and limited margin for error. Teaching the range of relevant skills during a 12‐month fellowship is challenging. An experiential simulation‐based curriculum can augment acquisition of knowledge and skills.ObjectivesTo develop a simulation‐based boot camp (BC) for novice pediatric anesthesiology fellows and assess learner perceptions of BC activities. We hypothesize that BC is feasible, not too basic, and well received by fellows.MethodsSkills stations, team‐based in situ simulations, and group discussions of complex cases were designed. Stations were evaluated by anonymous survey; fellows rated usefulness in improving knowledge, self‐confidence, technical skill, and clinical performance using a Likert scale (1 strongly disagree to 5 strongly agree). They were also asked if stations were too basic or too short. Median and interquartile range (IQR) data were calculated and noted as median (IQR).ResultsFellows reported the difficult airway station and simulated scenarios improved knowledge, self‐confidence, technical skill, and clinical performance. They disagreed that stations were too basic or too short with exception of the difficult airway session, which was too short [4 (4‐3)]. Fellows believed the central line station improved knowledge [4 (4‐3)], technical skills [4 (4‐4)], self‐confidence [4 (4‐3)], and clinical performance [4 (4‐3)]; scores trended toward neutral likely because the station was perceived as too basic [3.5 (4‐3)]. An interactive session on epinephrine and intraosseous lines was valued. Complicated case discussion was of educational value [4 (5‐4)], the varied opinions of faculty were helpful [4 (5‐4)], and the session was neither too basic [2 (2‐2)] nor too short [2 (2‐2)].ConclusionA simulation‐based BC for pediatric anesthesiology fellows was feasible, perceived to improve confidence, knowledge, technical skills, and clinical performance, and was not too basic.
MtVRN2 is a Polycomb VRN2‐like gene which represses the transition to flowering in the model legume Medicago truncatula
Authors: Jaudal Mauren , Zhang Lulu , Che Chong , Hurley Daniel G. , Thomson Geoffrey , Wen Jiangqi , Mysore Kirankumar S. , Putterill Joanna 
Published: March 2016

SummaryOptimising the timing of flowering contributes to successful sexual reproduction and yield in agricultural plants. FLOWERING LOCUS T (FT) genes, first identified in Arabidopsis thaliana (Arabidopsis), promote flowering universally, but the upstream flowering regulatory pathways can differ markedly among plants. Flowering in the model legume, Medicago truncatula (Medicago) is accelerated by winter cold (vernalisation) followed by long day (LD) photoperiods leading to elevated expression of the floral activator, FT‐like gene FTa1. However, Medicago, like some other plants, lacks the activator CONSTANS (CO) and the repressor FLOWERING LOCUS C (FLC) genes which directly regulate FT and are key to LD and vernalisation responses in Arabidopsis. Conversely, Medicago has a VERNALISATION2‐LIKE VEFS‐box gene (MtVRN2). In Arabidopsis AtVRN2 is a key member of a Polycomb complex involved in stable repression of Arabidopsis FLC after vernalisation. VRN2‐like genes have been identified in other eudicot plants, but their function has never been reported. We show that Mtvrn2 mutants bypass the need for vernalisation for early flowering in LD conditions in Medicago. Investigation of the underlying mechanism by transcriptome analysis reveals that Mtvrn2 mutants precociously express FTa1 and other suites of genes including floral homeotic genes. Double‐mutant analysis indicates that early flowering is dependent on functional FTa1. The broad significance of our study is that we have demonstrated a function for a VRN2‐like VEFS gene beyond the Brassicaceae. In particular, MtVRN2 represses the transition to flowering in Medicago by regulating the onset of expression of the potent floral activator, FTa1.
Low‐grade inflammation is associated with lower haemoglobin levels in healthy individuals: results from the Danish blood donor study
Authors: Kotzé S. R. , Pedersen O. B. , Petersen M. S. , Sørensen E. , Thørner L. W. , Sørensen C. J. , Rigas A. S. , Hjalgrim H. , Rostgaard K. , Ullum H. , Erikstrup C. 
Published: March 2016

Background and ObjectivesChronic inflammation can lead to anaemia of chronic disease due to the sequestration of iron caused by inflammatory cytokines and the protein hepcidin. However, the effect of low‐grade inflammation (LGI) on haemoglobin among healthy individuals is not known. This study examines the effect of LGI on haemoglobin among Danish blood donors.Materials and MethodsWe performed multivariable linear regression to assess the effect of LGI (i.e. high‐sensitivity C‐reactive protein above 3 mg/l but below 10 mg/l) on haemoglobin in 17 322 Danish blood donors. We also performed multivariable logistic regression to evaluate the effect of LGI on the risk of having low haemoglobin (below the 10th percentile among men and women, respectively). We adjusted for donation activity, age, sex, low ferritin, oral contraceptives and menopause. All analyses were stratified by current smoking status.ResultsLGI was associated with lower haemoglobin (0·08 mm lower [0·12 g/dl], 95% confidence interval (CI): −0·11–0·05) and increased risk of low haemoglobin (OR = 1·22, 95% CI: 1·05–1·43) in non‐smokers. Conversely, LGI was associated with higher haemoglobin in smokers (0·12 mm [0·19 g/dl], 95% CI: 0·06–0·18).ConclusionIn this first study of LGI and haemoglobin in healthy individuals, there was a negative association between LGI and haemoglobin in non‐smokers. The association was positive in smokers, probably because smoking leads to both increased inflammation and increased haemoglobin through CO exposure.
Examining Adaptive Expertise: A Novel Comparison of Student and Practicing Engineer CAD Modeling Performance
Authors: Johnson Michael D. , Ozturk Elif , Yalvac Bugrahan , Valverde Lauralee , Peng Xiaobo , Liu Ke 
Published: March 2016

Computer-aided design (CAD) tools are critical in the current fast-paced digital product commercialization environment. As firms move towards a model based enterprise, it becomes more important for engineers to develop the skills necessary to efficiently and effectively model components in CAD. The status of CAD education and training has often been decried as focusing too much on declarative knowledge, namely how to do specific procedures in a specific software program. This is opposed to the strategic knowledge or expertise that is adaptable to other CAD programs. To better inform CAD education and modeling procedures, an understanding of how experts model and model in novel situations is presented. Specifically, and novel to this work, the adaptive nature of these practicing professional’s CAD expertise is examined and compared to that of relatively novice students. The methods comprise a combination of screen capture data, model attributes, and the results of interviews to assess adaptive expertise.
Practicing engineers are found to spend a smaller percentage of their modeling time engaged in actual modeling procedures (doing time). Significant differences related to model attributes include: practicing engineers being less likely to use pattern features, more likely to have incorrect feature terminations, and more likely to use more complex features (as measured by feature density). Results show practicing engineers as less likely to highlight strategies related to adaptive expertise prior to the modeling activity. Post interview results show practicing engineers with more manifestations of adaptive expertise. These results are in agreement with previous literature examining both general and CAD modeling expertise.
A Numerical Model to Analyze the Thermal Behavior of a Propellant Increment
Authors: Blecker K. , Hadim H. 
Published: March 2016

The purpose of this study is to develop a numerical model of the thermal behavior of a propellant increment exposed to a variety of thermal environments and packaging conditions and predict the temperature distribution throughout the increment. The temperature distribution and bulk temperature of the propellant within the increment directly influence the burn rate and resulting pressure profile. The burn rate and pressure profile directly impact the range and stability of the munition which can result in a safety hazard if not properly accounted for.
This study has two parts; first a numerical model is developed and second an experiment is designed and carried out to validate the numerical model. The experiment involves instrumenting a propellant increment with a series of thermocouples and heating it in a controlled laboratory environment. Temperature data is collected with a dedicated data collector and retained for analysis and validation of the numerical model. The numerical model accounts for variable thermal solar loading, various packaging configurations, and orientation.
Initial results indicate that while there are points in the interior of the increment that come within 10 percent of the actual bulk temperature of the entire increment, the surface of the increment is not a good basis for prediction of the bulk temperature or temperature distribution within the increment. Additional analysis must be conducted to provide a viable estimate of the temperature distribution and bulk temperature of the increment based on the surface temperature in conjunction with knowledge of the exposure conditions.
Experimental Characterization of the Flow Instabilities of a Mixed-Flow Multiphase Pump Operating Air and Water Through Local Visualization and Analysis of Dynamic Measurements
Authors: Serena Alberto , Bakken Lars E. 
Published: March 2016

Part load operation of pumps generates flow and machine instabilities, which are not desirable and should be avoided as they result in premature wear and mechanical problems. Two-phase flow introduces additional challenges, both at the design and operational stages, due to the different phase behavior and mutual interaction. The phenomena involved present an intermittent character and are strongly dependent on the specific geometry and operating conditions. Despite the recent promising development of numerical simulations capabilities, an accurate characterization of the flow mechanisms still relies on real tests, which are needed to validate the numerical models too. An advanced laboratory test facility built at the Norwegian University of Science and Technology provides the required optical access to the pump channels, and high-speed recordings, along with local measurements of the pressure pulsations, allow to describe the flow structures in terms of location, length and time scales, and relate them to overall machine measurements, such as flow, pressure and torque. This provides a wide collection of test data of great value for a further understanding of the surging phenomenon, the development of a surging onset prediction model and a control strategy.
Tests are performed covering the whole range of flow rates; a characteristic surging condition is identified and described in the article.
Heat Transfer Modeling in a Double Wall Helical Coil Heat Exchanger
Authors: Bentley Jonathan , Cui Jie 
Published: March 2016

Double wall helical coil heat exchangers are widely used in a variety of applications. These heat exchangers are used anywhere that requires an added layer of protection from cross-fluid contamination such as in indirect water heaters. Here, the coil is heating a potable water tank with coil water which is often infused with a glycol mixture. Since contamination of the potable water would be detrimental to human health, the added protection of a double wall coil is necessary. Unfortunately, the double wall coil is inherently difficult to design due to unknown intertubular contact. This intertubular contact is hidden in nature and difficult to evaluate by nondestructive means.
This paper uses STAR-CCM+ to create a computational fluid dynamic model of the double wall helical coil in respect to GAMA indirect water heater continuous draw test conditions. Using CFD, the model is validated with single wall helical coil Nusselt number correlations determined from experimentation. Then, a parametric study is performed to determine what parameters of the coil can be changed to effectively overcome the intertubular thermal loss.
From this study, it is found that tube length has a linear positive relationship with coil output density and can be used to calculate necessary lengths for a desired output. Also, it was found that the experimental Nusselt number correlations identify with the results calculated by the double wall CFD model when intertubular contact percentage is used as a correction factor.
Stiffness Boundary Conditions for Critical Damping in Balance Recovery
Authors: Piovesan Davide , Kennett C. J. , Chavez-Romero Raúl , Panza Michael J. , Cárdenas Antonio 
Published: March 2016

This paper presents the analysis of a third-order linear differential equation representing the control of a muscle-tendon system, during quiet standing. The conditions of absolute stability and critical damping are analyzed. This study demonstrates that, for small oscillations, when the gravitational effect is modeled as a destabilizing negative stiffness and muscle-tendon stiffness is positive, the energy required to reach a critically damped state is very high. The high energy consumption is a consequence of a specific high threshold of muscle-tendon stiffness needed to achieve critical damping.
An approximated graphical method confirms that during a hold and release paradigm intended to perturb quiet standing, the ankle response to fall recovery is proper of a third-order system. Furthermore, a direct estimation of the muscle and tendon parameters was obtained.
Innovative Volumetric Solar Receiver Micro-Design Based on Numerical Predictions
Authors: Capuano Raffaele , Fend Thomas , Hoffschmidt Bernhard , Pitz-Paal Robert 
Published: March 2016

Due to the continuous global increase in energy demand, Concentrated Solar Power (CSP) represents an excellent alternative, or add-on to existing systems for the production of energy on a large scale.
In some of these systems, the Solar Power Tower plants (SPT), the conversion of solar radiation into heat occurs in certain components defined as solar receivers, placed in correspondence of the focus of the reflected sunlight.
In a particular type of solar receivers, defined as volumetric, the use of porous materials is foreseen. These receivers are characterized by a porous structure called absorber. The latter, hit by the reflected solar radiation, transfers the heat to the evolving fluid, generally air subject to natural convection.
The proper design of these elements is essential in order to achieve high efficiencies, making such structures extremely beneficial for the overall performances of the energy production process.
In the following study, a parametric analysis and an optimized characterization of the structure have been performed with the use of self-developed numerical models.
The knowledge and results gained through this study have been used to define an optimization path in order to improve the absorber microstructure, starting from the current in-house state-of-the-art technology until obtaining a new advanced geometry.