bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distribution, type, and origin of Parkin mutations: Review and case studies
Authors: Hedrich Katja , Eskelson Cordula , Wilmot Beth , Marder Karen , Harris Juliette , Garrels Jennifer , Meija‐Santana Helen , Vieregge Peter , Jacobs Helfried , Bressman Susan B. , Lang Anthony E. , Kann Martin , Abbruzzese Giovanni , Martinelli Paolo , Schwinger Eberhard , Ozelius Laurie J. , Pramstaller Peter P. , Klein Christine , Kramer Patricia 
Published: July 2004

AbstractEarly‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. © 2004 Movement Disorder Society
Effects of rivastigmine on motor and cognitive impairment in Huntington's disease
Authors: de Tommaso Marina , Specchio Nicola , Sciruicchio Vittorio , Difruscolo Olimpia , Specchio Luigi Maria 
Published: July 2004

AbstractTo evaluate the efficacy of rivastigmine on motor and cognitive impairment in Huntington's disease (HD), we carried out a prospective, open‐label, randomized, controlled study. Twenty‐one HD patients were enrolled: 14 were randomly sorted into medication and 7 to no‐treatment groups. Clinical and demographic features were similar between groups. After 8 months, an efficacy evaluation was carried out to compare the two groups. The improvement of cholinergic transmission in HD patients seemed to have a slight effect in ameliorating cognitive performance and slowing motor deterioration. © 2004 Movement Disorder Society
TSGen: a tool for modeling of frame loss in streaming video
Authors: Shahbazian John , Christensen Kenneth J. 
Published: July 2004

AbstractPacket loss affects the quality of streaming video. We describe a new Time Series Generator (TSGen) tool to generate a time series that models video packet loss phenomena by capturing both the moment and autocorrelation signatures of frame loss in a video stream. Copyright © 2004 John Wiley & Sons, Ltd.
Database‐independent, database‐dependent, and extended interpretation of peptide mass spectra in VEMS V2.0
Authors: Matthiesen Rune , Bunkenborg Jakob , Stensballe Allan , Jensen Ole N. , Welinder Karen G. , Bauw Guy 
Published: July 2004

AbstractThe Virtual Expert Mass Spectrometrist (VEMS) program package was developed for flexible, automated, and manual de novo tandem mass spectrometry (MS/MS) protein sequencing, and includes accessory programs for matrix‐assisted laser desorption/ionization‐mass spectrometry (MS) interpretation, and generation of protein and peptide databases. VEMS V2.0 has been developed into a fast tool for combining database‐independent and ‐dependent protein assignments in an extended analysis of MS/MS‐peptide data. MS or MS/MS data can be directly recalibrated after the first search by fitting the data to the best search result using polynomial equations. The score function is an improvement of known scoring algorithms and can be adapted for any MS instrument type. In addition, VEMS offers a novel statistical model for evaluating the significance of the protein assignment. The novel features are illustrated by the analysis of the fragmentation spectra obtained by liquid chromatrography‐MS/MS analysis of peptides from an anionic peroxidase enriched protein fraction from potato root tissue. The extended analysis mode resulted in the additional assignment of spectra for nine modified tryptic peptides and nine miscleaved peptides, in addition to the 45 spectra from regular tryptic peptides. Of the nine modified peptides, three were glycosylated.
Proteomic signature of human cancer cells
Authors: Seike Masahiro , Kondo Tadashi , Fujii Kazuyasu , Yamada Tesshi , Gemma Akihiko , Kudoh Shoji , Hirohashi Setsuo 
Published: July 2004

AbstractWe assessed proteomic profiles as biomarkers for monitoring cell phenotypes. Protein expression profiles were obtained by fluorescence two‐dimensional difference gel electrophoresis (2‐D‐DIGE), in which quantitative ability is improved by labeling proteins with fluorescent dyes prior to electrophoresis. Integrated protein spot intensities were analyzed by a statistical approach. The proteomic data of two groups of cell lines: (1) adenocarcinoma (AC) cell lines derived from lung, pancreas and colon tissues and (2) lung cancer cell lines with different histological backgrounds, including AC, squamous cell carcinoma and small cell carcinoma, were assessed on the basis of prior biological information. Hierarchical clustering analysis and principal component analysis were used to divide the cell lines into subgroups on the basis of similarities between their protein expression profiles. The majority of cell lines were grouped according to their organ of origin or histological background. A machine‐learning algorithm selected 32 protein spots that were responsible for the classification. The results indicate that proteomic data generated by 2‐D‐DIGE can provide a signature of essential cell phenotypes, suggesting that it might be possible to apply this technique to developing tumor markers that could identify the organ of origin of metastatic tumors and contribute to the differential diagnosis of lung cancer.
Towards data management of the HUPO Human Brain Proteome Project pilot phase
Authors: Blüggel Martin , Bailey Sonja , Körting Gerhard , Stephan Christian , Reidegeld Kai A. , Thiele Herbert , Apweiler Rolf , Hamacher Michael , Meyer Helmut E. 
Published: July 2004

AbstractThe pilot phase of the Human Brain Proteome Project as a part of the Human Proteome Organisation has just been started. In two pilot studies, 18 different laboratories are analyzing mouse brains of three age stages and human brain autopsy versus biopsy material, respectively. The overall aim is to elucidate the portfolio of available techniques as well as to elaborate common standards. As a first step, it was decided to use the common bioinformatics platform ProteinScape™ that was introduced to the participating groups in a two day course in Bochum, Germany.
Synthesis and inhibition performance of a polymer‐supported inhibitor
Authors: Yang Peng , Sun Yufeng , Deng Jianyuan , Liu Weina , Zhang Li , Yang Wantai 
Published: July 2004

AbstractThe synthesis of a polymer‐supported inhibitor (PSI) and its inhibition performance for free‐radical polymerization are reported for the first time. A special method has been devised to synthesize PSI with pure and abundant hydroquinone (HQ) groups anchored onto the polymer surface. A thin HQ/acetone (AC) solution is sandwiched between two polymer films. Under ultraviolet irradiation, AC as an photoinitiator quickly and effectively grafts HQ onto the polymer surface. PSI has been characterized with ultraviolet–visible and attenuated total reflectance/Fourier transform infrared spectroscopy. For potential applications, PSI has been used to inhibit the thermal polymerization of styrene and methyl methacrylate. The corresponding inhibition performance has been investigated through the measurement of the induction period with the dilatometer method. With the same absolute amount, the maximum inhibition ability of PSI approaches half that of a free inhibitor. Increasing the dispersion degree of PSI is favorable for the enhancement of the inhibition ability. © 2004 Wiley Periodicals, Inc. J Polym Sci Part A: Polym Chem 42: 4074–4083, 2004
The discovery of metallocene catalysts and their present state of the art
Authors: Kaminsky Walter 
Published: July 2004

AbstractMetallocene and other transition metal complexes activated by methylaluminoxane are highly active catalysts for the polymerization of olefins, diolefins, and styrene, which was discovered at the University of Hamburg about 25 years ago. These catalysts allow the synthesis of polymers with a highly defined microstructure, tacticity, and stereoregularity, as well as new copolymers with superior properties such as film clarity, tensile strength, and lower extractables. A better understanding of the mechanism of olefin polymerization leads to findings of other new single site catalysts. The development of the metallocene/MAO‐catalysts from their discovery to their present state of the art is presented. © 2004 Wiley Periodicals, Inc. J Polym Sci Part A: Polym Chem 42: 3911–3921, 2004
Structural, electronic and optical calculations of Cu(In,Ga)Se2 ternary chalcopyrites
Authors: Belhadj M. , Tadjer A. , Abbar B. , Bousahla Z. , Bouhafs B. , Aourag H. 
Published: July 2004

AbstractIn this work, we have investigated the structural, electronic and optical properties of the ternary I–III–VI2 chalcopyrite semiconductors ABX2 (A = Cu, B = In, Ga, X = Se) by means of a first‐principles density‐functional total‐energy calculation with the local‐density approximation (LDA), using the all‐electron full‐potential linear‐augmented plane‐wave method (FP‐LAPW). The equilibrium lattice constants and the bulk moduli (a, c, c/a, u and B0) are compared with other theoretical calculations. The energy gap at ambient pressure is found to be direct and the nature of the gap crucially depends on the manner in which the d electrons of the A atoms are treated. We have also reported the optical properties of two chalcopyrite semiconductors CuInSe2 and CuGaSe2. Results on complex dielectric functions, refractive indices n, extinction coefficients k, and normal‐incidence reflectivity R in the two crystals are given and compared with earlier data where available. We analyze in detail the structures of the dielectric function observed in the studied energy region. (© 2004 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
On the pressure (volume) dependence of Grüneisen parameter, Debye temperature and thermal expansivity in ε‐Fe
Authors: Liu Quan , Chen Li‐rong 
Published: July 2004

AbstractAssuming the second Grüneisen parameter q has the form of q(T, P) = q(T, 0) (V(T, P)/V(T, 0))n, the three calculated formulas of Grüneisen parameter; Debye temperature and thermal expansivity of ε‐Fe are presented. The calculated results show that the agreement with the experimental data is good. (© 2004 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Group theoretical description of two‐electron wave functions in systems with subgroups of symmetry
Authors: Yarzhemsky V. G. , Nefedov V. I. 
Published: July 2004

AbstractA method for group theoretical description of two‐electron wave functions, based on the Mackey theorem on symmetrized squares, is developed. It is shown that the Mackey theorem makes it possible to construct basis functions and to label repeating representations. The technique is applied to molecules of Oh symmetry and to space groups with point groups D2h and D4h. Application of the results to high‐Tc superconductors is discussed. © 2004 Wiley Periodicals, Inc. Int J Quantum Chem, 2004
Development and validation of a prognostic model for survival time data: application to prognosis of HIV positive patients treated with antiretroviral therapy
Authors: May Margaret , Royston Patrick , Egger Matthias , Justice Amy C. , Sterne Jonathan AC ,   For the ART Cohort Collaboration
Published: July 2004

AbstractThe process of developing and validating a prognostic model for survival time data has been much discussed in the literature. Assessment of the performance of candidate prognostic models on data other than that used to fit the models is essential for choosing a model that will generalize well to independent data. However, there remain difficulties in current methods of measuring the accuracy of predictions of prognostic models for censored survival time data. In this paper, flexible parametric models based on the Weibull, loglogistic and lognormal distributions with spline smoothing of the baseline log cumulative hazard function are used to fit a set of candidate prognostic models acrosskdata sets. The model that generalizes best to new data is chosen using a cross‐validation scheme which fits the model onk–1 data sets and tests the predictive accuracy on the omitted data set. The procedure is repeated, omitting each data set in turn. The quality of the predictions is measured using three different methods: two commonly proposed validation methods, Harrell's concordance statistic and the Brier statistic, and a novel method using deviance differences. The results show that the deviance statistic is able to discriminate between quite similar models and can be used to choose a prognostic model that generalizes well to new data. The methods are illustrated by using a model developed to predict progression to a new AIDS event or death in HIV‐1 positive patients starting antiretroviral therapy. Copyright © 2004 John Wiley & Sons, Ltd.
Methods for modelling change in cluster randomization trials
Authors: Klar Neil , Darlington Gerarda 
Published: July 2004

AbstractRandomized trials are often designed to assess an intervention's ability to change patient knowledge, behaviour or health. The study outcome will then need to be measured at least twice for each subject—prior to random assignment and following implementation of the intervention. In this paper we consider methods for modelling change when data are obtained from cluster randomization trials where the unit of allocation is a family, school or community. Attention focuses on mixed effects linear regression extensions of (i) two‐sample t‐tests and (ii) analysis of covariance, in both cases accounting for dependencies among cluster members. Algebraic expressions for tests of the intervention effect are derived for the special case where there are a fixed number of subjects per cluster while simulation studies are used to compare the power of these procedures in the more realistic case where there is variability in cluster size. A key conclusion is that there can be considerable gains in power when allowing for different individual‐level and cluster‐level associations between the baseline and follow‐up assessments. The discussion is illustrated using data from a school‐based smoking prevention trial. Copyright © 2004 John Wiley & Sons, Ltd.
Ultrasound assessment of venous blood flow before and after laser therapy: approach to understanding the pathophysiology of twin–twin transfusion syndrome
Authors: Ishii K. , Chmait R. H. , Martínez J. M. , Nakata M. , Quintero R. A. 
Published: July 2004

AbstractObjectiveTo estimate direction and volume of blood exchange between the donor twin and recipient twin by ultrasound assessment of blood flow in the umbilical vein before and after selective laser photocoagulation of communicating vessels (SLPCV) for twin–twin transfusion syndrome (TTTS).MethodsForty‐one TTTS patients underwent Doppler examination of the umbilical vein before and 24 h after SLPCV. The diameter and mean time‐averaged velocity of the umbilical vein were estimated. Total umbilical venous flow (TUVF) was calculated as follows: TUVF (mL/min) = mean time‐averaged velocity (cm/s) × mean cross‐sectional area (cm2) × 60 (s).ResultsTUVF was significantly higher in the recipient (111.2 mL/min) than in the donor twin (44.8 mL/min) before SLPCV (P < 0.0001). However, TUVF was no different between the recipient and the donor twin after SLPCV (93.1 vs. 70.7 mL/min, recipient and donor twin, respectively, P = 0.11). The donor twin's TUVF increased after surgery (P < 0.0001), while the recipient twin's TUVF decreased (P = 0.041). The median postoperative increase in the donor twin's TUVF of 25.9 mL/min had a corresponding decrease of TUVF in the recipient twin of 18.1 mL/min (P = 0.27).ConclusionsOur data suggest that untreated TTTS is characterized by excessive umbilical venous blood flow in the recipient twin relative to the donor twin. Laser surgery results in concordant changes in umbilical venous flow in opposite directions between the donor and recipient twins, eliminating the initial imbalance. Our results lend support to the fundamental hypothesis of unbalanced blood flow exchange (net flow from donor to recipient) between monochorionic twins as the cause for TTTS and that laser surgery eliminates the pathophysiological cause. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.
A fingerprint model for inhomogeneous ink–paper layer systems measured with micro‐x‐ray fluorescence analysis
Authors: Malzer Wolfgang , Hahn Oliver , Kanngiesser Birgit 
Published: July 2004

AbstractNowadays, micro‐x‐ray fluorescence analysis has become an established tool for the non‐destructive investigation of art objects. However, as these types of sample often forms complex and inhomogeneous layer systems, the quantitative evaluation of the measurements is far from a standard routine. In this paper a fingerprint model is described, which we developed to discriminate between different iron‐gall inks of historical manuscripts or compositions. Fundamental parameter methods are used to take self‐attenuation, interference from the paper background and diffusion of the ink into the paper into account. The capability of the method to contribute to the solution of archaeometric problems is exemplified by the investigation of an ancient composition. Finally, the restrictions of the model and possible improvements are discussed. Copyright © 2004 John Wiley & Sons, Ltd.
The use of combined trace element XRF and EDXRD data as a histopathology tool using a multivariate analysis approach in characterizing breast tissue
Authors: Farquharson M. J. , Geraki K. 
Published: July 2004

AbstractThe concentrations of K, Fe, Cu and Zn were measured in 77 breast tissue samples (38 classified as normal and 39 classified as diseased) using x‐ray fluorescence (XRF) techniques. The coherent scattering profiles were also measured using energy‐dispersive x‐ray diffraction (EDXRD), from which the proportions of adipose and fibrous tissue in the samples were estimated. The data from 30 normal samples and 30 diseased samples were used as a training set to construct two calibration models, one using a partial least‐squares (PLS) regression and one using a principal component analysis (PCA) for a soft independent modelling of class analogy (SIMCA) technique. The data from the remaining samples, eight normal and nine diseased, were presented to each model and predictions were made of the tissue characteristics. Three data groups were tested, XRF, EDXRD and a combination of both. The XRF data alone proved to be most unreliable indicator of disease state with both types of analysis. The EDXRD data were an improvement, but with both methods of modelling the ability to predict the tissue type most accurately was by using a combination of the data. Copyright © 2004 John Wiley & Sons, Ltd.
Superconducting tunnel junctions as detectors for high‐resolution x‐ray spectroscopy
Authors: Huber M. , Angloher G. , Hollerith C. , Ruedig A. , Jochum J. , Potzel W. , Feilitzsch F. v. 
Published: July 2004

AbstractSuperconducting tunnel junctions (STJs) are a type of cryogenic detector with a working temperature of about 100 mK. They allow the combination of low energy threshold, high quantum efficiency and good count rate capability with an excellent energy resolution; at an x‐ray energy of 5.9 keV an energy resolution of 10.8 eV (FWHM) has been achieved. The detector system described is based on STJs which consist of two superconducting Al electrodes separated by a thin dielectric tunnel barrier. The tunneling process of quasi‐particles created by deposition of energy in the electrodes leads to a detectable current signal. The STJ is equipped with a superconducting Pb absorber which is read out via phonons. The Pb absorber increases absorption efficiency (∼50% at 6 keV) and suppresses detector artefacts. The degeneration of Pb, most probably due to oxidation, is overcome by the introduction of a protective SiO layer on top of the absorber. This layer leads to a slight reduction of energy resolution. Nevertheless, a resolution of 9.7 eV at 1.7 keV and of ∼20 eV at 5.9 keV could be realized with a prototype detector. Currently this STJ‐based detector system is being incorporated into a prototype cryogenic spectrometer for XRF analysis. Copyright © 2004 John Wiley & Sons, Ltd.
Prognostic Factors for Early Gastric Cancer in France: Cox Regression Analysis of 332 Cases
Authors: Borie Frédéric , Rigau Valerie , Fingerhut Abe , Millat Bertrand ,   French Association for Surgical Research
Published: July 2004

AbstractEarly gastric cancer (EGC) is defined as a lesion in which the depth of invasion is limited to the mucosa, submucosa, or both regardless of lymph node status; moreover, it has an excellent prognosis, with a 5‐year survival rate of more than 90%. We aimed to determine the prognostic factors for EGC in a large Western series. Over a 10‐year period from January 1979 to December 1988 a series of 332 patients (mean age 64 years) with EGC were operated on in 23 centers (two French Associations for Surgical Research). The clinicopathologic data retrospectively and screened it for prognostic effect. The mean follow‐up for the 332 EGC patients was 80 months. Postoperative mortality was 4% among 243 partial and 89 total gastric resections. The overall 5‐ and 7‐year survival rates were 82% and 72%, respectively. The cumulative 5‐ and 7‐year survival rates (mean follow‐up 80 months) were 92.0% and 87.5%, respectively, excluding both operative and unrelated mortality. There was no significant difference in survival between partial and total gastric resection for lesions located in the lower third of the stomach (p > 0.6). When survival data (excluding postoperative deaths) were analyzed using univariate analysis and Cox’s proportional hazards model, lymphatic involvement (p = 0.01), the site of the tumor in the upper two‐thirds of the stomach (p = 0.02), and submucosal lesions (p = 0.049) showed a significant effect on predicting a poor prognosis. These results suggest that because of its prognostic value lymphadenectomy should be performed in addition to gastric resection for adequate classification of EGCs. Follow‐up might be required only for patients with at least one poor prognostic factor.