bluuebunny/crossref_metadata_2025_split huggingface dataset:
The curious case of phenocopies in families with genetic Parkinson's disease
Authors: Klein Christine , Chuang Rosalind , Marras Connie , Lang Anthony E. 
Published: July 2011

AbstractMonogenic forms of Parkinson's disease account for ∼3% of all “idiopathic” Parkinson's disease. With reduced penetrance in dominant forms and manifesting heterozygotes in recessive forms of Parkinson's disease, it has been well recognized that inheritance patterns do not always follow classic Mendelian genetics. A novel twist to the puzzle is the presence of phenocopies (i.e., family members with the same clinical syndrome as the mutation carriers, but lacking the familial mutation). We reviewed all pedigrees published between 1997 and 2009 with α‐synuclein, leucine‐rich repeat kinase 2, Parkin, or PTEN‐induced kinase 1 mutations with at least 2 affected individuals and known genetic status for the possible presence of phenocopies. Of 537 patients with clinical Parkinson's disease in 160 families meeting our inclusion criteria, 27 patients (5.0%) from 23 families (14.4%) were phenocopies. Phenocopies represented 3.8% of all blood relatives reported in the pedigrees containing phenocopies and an estimated 1.3% of all blood relatives in all pedigrees included. Both of these rates exceeded age‐specific prevalences of Parkinson's disease. In 4 families, the phenocopy was explained by another known mutation: In 2 pedigrees, a monogenic cause was likely; in another 2, secondary parkinsonism was suspected; and in the remaining 15 families, “sporadic Parkinson's disease” was suggested as the cause of disease in the phenocopy. The unexpectedly high number of phenocopies of mostly unknown origin within families with a seemingly known etiology of Parkinson's disease adds another level of complexity to genetic research of Parkinson's disease, as well as to the interpretation of genetic testing results in the clinical diagnostic setting. © 2011 Movement Disorder Society
Mesoscale observations of an extended heat burst and associated wind storm in Central Oklahoma
Authors: Basara Jeffrey B. , Rowell Mason D. 
Published: July 2011

AbstractOn 13 May 2009, 13 surface‐based observing stations within central and western Oklahoma recorded maximum wind speeds in excess of 22.5 m s−1, along with gusts exceeding 28 m s−1 in isolated locations, during a localized wind storm that lasted in excess for over an hour. These wind speeds were associated with an enhanced mesoscale pressure gradient that developed during the late evening of 12 May 2009 and early morning hours of 13 May 2009, which then slowly propagated from west to east. Ultimately, the event produced localized wind damage in northern portions of Oklahoma City. Analysis of the synoptic and mesoscale conditions present at each stage of the event revealed that specific parameters associated with heat bursts occurred during the event, but with the inclusion of varying mesoscale and microscale influences. As such, a close examination of the mesoscale pressure field indicated that a dynamically variable mesoscale convective system (MCS) produced a mesohigh/mesolow couplet that ultimately created the strong pressure gradient. The result was a prolonged period (in excess of 1 h) of enhanced wind speed values across a swath approximately 300 km in length and 50 km in width that were not directly associated with the anomalously warmer and drier conditions that occurred due to the heat burst. Copyright © 2011 Royal Meteorological Society
Towards optimized MR thermometry of the human heart at 3T
Authors: Hey S. , Cernicanu A. , de Senneville B. D. , Roujol S. , Ries M. , Jaïs P. , Moonen C. T. W. , Quesson B. 
Published: July 2011

Catheter ablation using radio frequency (RF) has been used increasingly for the treatment of cardiac arrhythmias and may be combined with proton resonance frequency shift (PRFS) ‒based MR thermometry to determine the therapy endpoint. We evaluated the suitability of two different MR thermometry sequences (TFE and TFE‐EPI) and three blood suppression techniques.Experiments were performed without heating, using an optimized imaging protocol including navigator respiratory compensation, cardiac triggering, and image processing for the compensation of motion and susceptibility artefacts. Blood suppression performance and its effect on temperature stability were evaluated in the ventricular septum of eight healthy volunteers using multislice double inversion recovery (MDIR), motion sensitized driven equilibrium (MSDE), and inflow saturation by saturation slabs (IS). It was shown that blood suppression during MR thermometry improves the contrast‐to‐noise ratio (CNR), the robustness of the applied motion correction algorithm as well as the temperature stability. A gradient echo sequence accelerated by an EPI readout and parallel imaging (SENSE) and using inflow saturation blood suppression was shown to achieve the best results. Temperature stabilities of 2 °C or better in the ventricular septum with a spatial resolution of 3.5 × 3.5 × 8mm3 and a temporal resolution corresponding to the heart rate of the volunteer, were observed.Our results indicate that blood suppression improves the temperature stability when performing cardiac MR thermometry. The proposed MR thermometry protocol, which optimizes temperature stability in the ventricular septum, represents a step towards PRFS‐based MR thermometry of the heart at 3 T. Copyright © 2011 John Wiley & Sons, Ltd.
Understanding the association between depressive personality and hypersensitive (vulnerable) narcissism: Some preliminary findings
Authors: Huprich Steven , Luchner Andrew , Roberts Christopher , Pouliot Gregory 
Published: July 2011

ABSTRACTDepressive personality disorder (DPD) has been under consideration for inclusion in the DSM for over 15 years. Support for its validity and utility is mixed, and it has received little attention for its structure and associated intra‐ and interpersonal dynamics. Interestingly, DPD is quite similar to the construct of hypersensitive, or vulnerable, narcissism (HN). Both phenomena involve tendencies towards depression, guilt and anxiety; a sense of self that is inadequate; poorly developed self‐esteem; and tendencies towards masochistic suffering. In this study, measures of these constructs (the Depressive Personality Disorder Inventory [DPDI] and the Hypersensitive Narcissism Scale [HSNS]) were found to be significantly correlated in both clinical (r = 0.56,n = 238) and nonclinical (r = 0.55,n = 346) samples. Both measures were similarly correlated with a measure of interpersonal (object) relations. A confirmatory factor analysis failed to support a one‐ or two‐factor solution. Subsequent exploratory factor analysis found that one large factor accounted for 29.47% of the variance and consisted of items related to hypersensitive self‐focus. A parallel analysis suggested that six factors could be interpreted, with HSNS items loading onto the first and sixth factors and DPDI items loading onto the other factors. It is concluded that DPD and HN are closely related constructs, but that future research focusing on what accounts for the shared and nonshared variance of the two constructs is necessary. Copyright © 2011 John Wiley & Sons, Ltd.
Designed protein mimics of the Ebola virus glycoprotein GP2 α‐helical bundle: Stability and pH effects
Authors: Harrison Joseph S. , Higgins Chelsea D. , Chandran Kartik , Lai Jonathan R. 
Published: July 2011

AbstractEbola virus (EboV) belongs to the Filoviridae family of viruses that causes severe and fatal hemhorragic fever. Infection by EboV involves fusion between the virus and host cell membranes mediated by the envelope glycoprotein GP2 of the virus. Similar to the envelope glycoproteins of other viruses, the central feature of the GP2 ectodomain postfusion structure is a six‐helix bundle formed by the protein's N‐ and C‐heptad repeat regions (NHR and CHR, respectively). Folding of this six‐helix bundle provides the energetic driving force for membrane fusion; in other viruses, designed agents that disrupt formation of the six‐helix bundle act as potent fusion inhibitors. To interrogate determinants of EboV GP2‐mediated membrane fusion, we designed model proteins that consist of the NHR and CHR segments linked by short protein linkers. Circular dichroism and gel filtration studies indicate that these proteins adopt stable α‐helical folds consistent with design. Thermal denaturation indicated that the GP2 six‐helix bundle is highly stable at pH 5.3 (melting temperature, Tm, of 86.8 ± 2.0°C and van't Hoff enthalpy, ΔHvH, of −28.2 ± 1.0 kcal/mol) and comparable in stability to other viral membrane fusion six‐helix bundles. We found that the stability of our designed α‐helical bundle proteins was dependent on buffering conditions with increasing stability at lower pH. Small pH differences (5.3–6.1) had dramatic effects (ΔTm = 37°C) suggesting a mechanism for conformational control that is dependent on environmental pH. These results suggest a role for low pH in stabilizing six‐helix bundle formation during the process of GP2‐mediated viral membrane fusion.
Profiling gastrin‐releasing peptide receptor in prostate tissues: Clinical implications and molecular correlates
Authors: Beer Marc , Montani Matteo , Gerhardt Josefine , Wild Peter J. , Hany Thomas F. , Hermanns Thomas , Müntener Michael , Kristiansen Glen 
Published: July 2011

AbstractBACKGROUNDThe gastrin‐releasing peptide receptor (GRPR) has emerged as an attractive target for both therapeutic and diagnostic appliances, but has only insufficiently been characterized in the human prostate so far. The aim of this study is to profile GRPR in a large cohort and correlate it with clinicopathologic and molecular parameters.METHODSBenign and malignant (primary carcinoma, metastases, and castration‐resistant prostate cancer) prostate samples from 530 patients were analyzed immunohistochemically for GRPR, androgen receptor and Cyclin D1 expression. Staining intensity was assessed assigning a semiquantitative score to each sample.RESULTSNormal prostate tissues were mostly GRPR negative, significantly higher expression rates were seen in primary carcinomas and metastases. Significant inverse correlations were found for GRPR and increasing Gleason score, PSA value, and tumor size. A stratified Kaplan–Meyer analysis for GRPR and high AR expression shows a significant prognostic advantage for high GRPR expression, whereas GRPR expression alone shows no independent prognostic value. Highly significant correlations for GRPR, AR, and Cyclin D1 were found.CONCLUSIONSOur data show that GRPR is overexpressed in prostate cancer, particularly of lower grade and smaller size. These findings constitute a caveat for the use of GRPR as a target for diagnostic or therapeutic approaches to high grade or progressed prostate cancer. Prostate 72:318–325, 2012. © 2011 Wiley Periodicals, Inc.
Calculating the explosion energy of a boiling liquid expanding vapor explosion using exergy analysis
Authors: Ogle Russell A. , Ramirez Juan C. , Smyth Suzanne A. 
Published: July 2011

AbstractFollowing the work of Crowl on calculating the energy of explosions using exergy (thermodynamic availability), we examine the explosion energy of boiling liquid expanding vapor explosions (BLEVEs). A number of investigators have proposed schemes for calculating the maximum work that a BLEVE can perform on its surroundings. Their proposed evaluation schemes yield varying results because they depend significantly on the precise specification of the thermodynamic path taken by the vaporizing, expanding mass. We demonstrate how to evaluate the maximum theoretical work associated with a BLEVE as a function of the fluid's thermodynamic properties and its equation of state. Finally, we give numerical examples to compare the availability of a BLEVE with some of the proposed schemes suggested by others. The advantage of using exergy analysis to evaluate the maximum work of a BLEVE is based on the rigorous and unambiguous definition for exergy. © 2011 American Institute of Chemical Engineers Process Saf Prog, 2012
Electrocatalytic properties of hybrid palladium–gold/multi‐walled carbon nanotube materials in fuel cell applications
Authors: Chiou Yuh‐Jing , Chen Kuan‐Yuan , Lin Hong‐Ming , Liou Wei‐Jen , Liou Huey‐Wen , Wu She‐Huang , Mikolajczuk Anna , Mazurkiewicz Marta , Malolepszy Artur , Stobinski Leszek , Borodzinski Andrzej , Kedzierzawski Piotr , Kurzydlowski Krzysztof , Chien Shu‐Hua , Chen Wen‐Chang 
Published: July 2011

AbstractMulti‐walled carbon nanotubes (MWCNTs) supported Pd–Au nanoparticles for electrooxidation of formic acid (FA) are prepared and compared with Pd/MWCNTs in this study. The nanocatalysts are prepared by a polyol method, and characterized using X‐ray diffraction (XRD), thermogravimetry (TGA), SEM, and field emission transmission electron microscope (FE‐TEM). Cyclic voltammetry (CV) is used to examine the catalytic activity towards FA electrooxidation. Controlling the contents of the precursors (PdCl2 and HAuCl4·4H2O), the different weight ratios of Pd–Au can be synthesized to form the various solid solution structures of Pd–Au. TEM image results indicate the average diameter of Pd–Au solid solution particles is about 10–30 nm. The results of electrochemical analysis show that the Au (10 wt.%)/[Pd/MWCNTs (1:9)](90 wt.%) hybrid catalysts exhibit the highest catalytic activity and better stability than that of Pd/MWCNTs in FA electrooxidation. The promoting of Pd‐based catalyst with Au to form solid solution improves the performance of the catalyst in FA electrooxidation. The newly synthesized electrocatalyst is promising for application in direct formic acid fuel cell (DFAFC).
Experimental study of iron redistribution between bulk defects and boron doped layer in silicon wafers
Authors: Talvitie Heli , Yli‐Koski Marko , Haarahiltunen Antti , Vähänissi Ville , Asghar Muhammad Imran , Savin Hele 
Published: July 2011

AbstractWe have studied iron distribution between a boron‐implanted (p+) layer and bulk defects in single crystalline silicon wafers after various gettering anneals. Our results show that iron accumulation into the p+ layer was pronounced after each anneal. However, we were able to decrease the strong accumulation by combining a specific low‐high anneal with high bulk defect density. We determined the dominant mechanism behind the accumulation of iron into the p+ layer, which turned out to be precipitation instead of segregation. The results can be helpful when choosing the internal gettering steps for both microelectronic (IC) and multicrystalline silicon photovoltaic (PV) processes.
Imaging the photovoltaic response of PbS‐sensitized porous titania
Authors: Turyanska L. , Makarovsky O. , Elfurawi U. , Patanè A. , Fay M. W. , Bowers J. W. , Upadhyaya H. M. 
Published: July 2011

AbstractWe report the photovoltaic response of solid‐state devices based on porous TiO2 photosensitized with PbS nanocrystals. A photovoltaic response in the visible and near infrared wavelength range is obtained by exploiting the Schottky junction that forms at the interface between the PbS/TiO2 film and a metallic contact. Spatial images of the photoluminescence and of the short circuit photocurrent signal reveal a non‐homogeneous response, which we explain in terms of the electron transfer dynamics at the PbS/TiO2 interface and the morphological properties of TiO2.
Exploring optimal UV emission windows for AlGaN and AlInN alloys grown on different templates
Authors: Fu D. , Zhang R. , Liu B. , Xie Z. L. , Xiu X. Q. , Lu H. , Zheng Y. D. , Edwards G. 
Published: July 2011

AbstractThe interband excitonic transition energies and their corresponding polarization properties of AlGaN and AlInN alloys pseudomorphically grown on c‐plane GaN and AlN templates, have been systematically investigated under the framework of k · p perturbation theory. It is found that by changing alloy composition which is accompanied with misfit strain modulation, the valence band structure of both AlGaN and AlInN can be switched from AlN‐like to GaN‐like, thus leading to enhancement of the surface ultraviolet emission efficiency. Optimal alloy composition windows for efficient ultraviolet emissions have been established where AlGaN and AlInN alloys grown on AlN template show wider optimal windows than that grown on GaN template.
Significantly different contamination of atomically clean Si(001) when investigated by XPS and AES
Authors: Gheorghe Nicoleta G. , Lungu George A. , Costescu Ruxandra M. , Teodorescu Cristian M. 
Published: July 2011

AbstractClean Si(001) single crystal surfaces provided different surface reconstructions: p(1 × 2) and c(n × 2) (n = 4, 6) at room temperature. The in situ oxidation of these surfaces was followed by Auger electron spectroscopy and by X‐ray photoelectron spectroscopy. It is found that, in similar ultrahigh vacuum conditions, much faster contamination (about 500 times) occurs when the samples are investigated by AES than by XPS, owing to the interaction of the electron beam with the sample surface. With the sample subject to the AES investigation, the contamination occurs by forming >Si2CO complexes based on the Si dimers. During XPS, reaction with water molecules from the residual gas should also be taken into account.
A comparison of the performance of Kalpana and Meteosat‐7 WV radiances in the ECMWF NWP model
Authors: Singh Randhir , Kelly Graeme , Brugge Roger , O'Neill Alan 
Published: July 2011

AbstractThe Kalpana Very High Resolution Radiometer (VHRR) water vapour (WV) channel is very similar to the WV channel of the Meteosat Visible and Infrared Radiation Imager (MVIRI) on Meteosat‐7, and both satellites observe the Indian subcontinent. Thus it is possible to compare the performance of VHRR and MVIRI in numerical weather prediction (NWP) models. In order to do so, the impact of Kalpana‐ and Meteosat‐7‐measured WV radiances was evaluated using analyses and forecasts of moisture, temperature, geopotential and winds, using the European Centre for Medium‐range Weather Forecasts (ECMWF) NWP model. Compared with experiments using Meteosat‐7, the experiments using Kalpana WV radiances show a similar fit to all observations and produce very similar forecasts. Copyright © 2011 Royal Meteorological Society and British Crown Copyright, the Met Office
Significant bias of the NCEP/NCAR and twentieth‐century reanalyses relative to pilot balloon observations over the West African Monsoon region (1940–1957)
Authors: Stickler A. , Brönnimann S. 
Published: July 2011

AbstractThe strong interannual‐to‐decadal variability of the West African Monsoon is subject to an active field of climate research that tries to disentangle its influencing factors and explore its predictability. Reliable observation‐based data over a preferably long period are arguably the most important basis for such efforts. Here, we try to explore the quality of several data products available for the earlier period of upper‐air observations (1940–1957): the Comprehensive Historical Upper‐Air Network (CHUAN), the NCEP/NCAR Reanalysis (NNR), and the Twentieth Century Reanalysis (20CR). To do so, we compare wind soundings from 37 pilot balloon stations contained in CHUAN (10°S–30°N, 20°W–20°E) with the reanalyses.The comparison with the NNR reveals seasonally and diurnally varying significant differences relative to the observations over West and Central Africa. The differences reach absolute values of several metres per second, and their spatially coherent structure strongly points to a deficiency of the reanalysis rather than observational errors. The difference fields indicate an overestimation of the strength and thickness of the low‐level monsoon in all seasons and an underestimation of the Harmattan winds over the Sahel in winter. At higher levels, they point to an overestimation of the mid‐tropospheric monsoon return flow and African easterly jet.For the 20CR, the fields reveal again significant differences up to several metres per second on all levels and in all seasons. However, the direction relative to the observed monsoon flow and Harmattan/trades is opposite at the low levels. Additionally, the differences tend to be smaller and more confined to the coastal region.Further analysis demonstrates that the observed interannual variability is only insufficiently modelled in both reanalyses. Together with the diurnal cycle of the differences, this precludes a simple correction of the reanalyses and demonstrates that, depending on the purpose of a study, one should be extremely cautious when using reanalysis products. Copyright © 2011 Royal Meteorological Society
Control design and implementation of a novel master–slave surgery robot system, MicroHand A
Authors: Sang Hongqiang , Wang Shuxin , Li Jianmin , He Chao , Zhang Lin'an , Wang Xiaofei 
Published: July 2011

AbstractBackgroundCompared with conventional minimally invasive surgery and open surgery, robotic‐assisted minimally invasive surgery can overcome or eliminate drawbacks caused by operator restrictions, motion limitation by the trocar and the image system, such as fatigue, trembling, low precision, constrained degree‐of‐freedom, poor hand–eye coordination and restricted surgical vision. In this paper, a novel partly tendon‐driven master–slave robot system is proposed to assist minimally invasive surgery and a master–slave control architecture is developed for abdominal surgical operations.MethodsA novel master–slave surgery robot system named MicroHand A has been developed. A kinematic analysis of master and slave manipulators was conducted, based on screw theory and vector loop equation. The relationships of the tendon‐driven multi‐DOF surgical instrument among Cartesian space, actuator space and joint space were derived for control purposes. The control system architecture of the MicroHand A was designed with intuitive motion control and motion scaling control. Llewellyn's absolute stability criterion and the transparency of the one‐DOF master–slave system are also analysed.ResultsIntuitive motion control under dissimilar kinematics in master–slave manipulations and motion scaling control were accomplished to solve absonant hand–eye coordination, kinematic dissimilarity and workspace mismatch of master–slave manipulator problems. A series of tests and animal experiments were carried out to evaluate system performance. The experimental results demonstrate that the system could accomplish intuitive motion control and motion scaling control, and that the control system is stable and reliable.ConclusionsThe experiments performed on the MicroHand A robotic system yielded expected control results. The system satisfies the requirements of minimally invasive surgery. Intuitive motion control and motion scaling control under different kinematics for the master and slave have been implemented. Copyright © 2011 John Wiley & Sons, Ltd.
Effect of image settings on nuchal translucency thickness measurement by a semi‐automated system
Authors: Chen P. W. , Chen M. , Leung T. Y. , Lau T. K. 
Published: July 2011

AbstractObjectiveTo investigate whether pre‐ and post‐processing image settings affect NT measurements made by a semi‐automatic method (SAM).MethodsDifferent image settings (e.g. gain) were either adjusted one at a time on images that had been obtained during fetal NT scans (post‐processing, n = 66), or adjusted one at a time during live scanning and image acquisition of the adult posterior tibial artery (pre‐processing group, n = 91). The NT and luminal diameter of the posterior tibial artery, respectively, were measured by SAM on all original and adjusted images.ResultsAlteration of the image settings resulted in a statistically significant effect on the measurements taken by SAM, with an average pair difference ranging from 0.001 mm to 0.139 mm. Most of the differences were small and therefore the clinical impact would be negligible. The pair differences were greatest with a very high contrast setting, or without tissue harmonic imaging (THI); the paired difference in measurement in those with vs those without THI was more than 0.1 mm in over 40% of cases.ConclusionsMeasurements made by SAM are affected by image settings. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.