bluuebunny/crossref_metadata_2025_split huggingface dataset:
On‐line sample stacking and short‐end injection CE for the determination of fluoxetine and norfluoxetine in plasma: Method development and validation using experimental designs
Authors: Lu Chia‐Chia , Jong Yuh‐Jyh , Ferrance Jerome , Ko Wei‐Kung , Wu Shou‐Mei 
Published: August 2007

AbstractA short‐end injection CE method combining field‐amplified sample stacking (FASS) is presented for the analysis of fluoxetine (FL) and norfluoxetine in plasma. In this study, FASS enhanced the sensitivity about 1100‐fold, while short‐end injection reduced the analysis time to less than 4 min. Parameters involved in the separations were investigated using a central composite design (CCD) and response surface methodology to optimize the separation conditions in a total of only 32 runs. Samples injected into the capillary for 99.9 s at a voltage of –5 kV were stacked in a water plug (0.5 psi, 9 s). Baseline resolution of FL and its major metabolite was achieved using a BGE formulation consisting of phosphate–triethanolamine at low pH, and a separation voltage of –10 kV. Five percent methanol was added as organic modifier to enhance selectivity and resolution. The linear range was between 10 and 500 ng/mL (r >0.9946), covering the expected plasma therapeutic ranges. The LOD in plasma were 4 ng/mL (S/N = 3), a value comparable to that obtained using LC‐MS, showing the success of the on‐line stacking technique. Our method was also successfully validated in quantification and pharmacokinetic studies with three volunteer plasma samples and could be applied to pharmacogenetic studies.
A study of comparability in amplified fragment length polymorphism profiling using a simple model system
Authors: Partis Lina , Burns Malcolm , Chiba Koichi , Corbisier Philippe , Gancberg David , Holden Marcia J. , Wang Jing , Liu Qing Yan , Okunishi Tomoya , Yang Inchul , Vonsky Maxim , Emslie Kerry R. 
Published: August 2007

AbstractA simple amplified fragment length polymorphism (AFLP) model, using the bacteriophage lambda genome, was developed to test the reproducibility of this technique in an international comparative study. Using either non‐selective or selective primers, nine fragments or subsets of two or three fragments, respectively, were predicted using in silico software. Under optimized conditions, all predicted fragments were experimentally generated. The reproducibility of the AFLP model was tested by submitting both “unknown” DNA template that had been restricted and ligated with AFLP linkers (R/L mixture) and corresponding primer pairs to nine laboratories participating in the study. Participants completed the final PCR step and then used either slab gel electrophoresis or CE to detect the AFLP fragments. The predicted fragments were identified by the majority of participants with size estimates consistently up to 3 base pair (bp) larger for slab gel electrophoresis than for CE. Shadow fragments, 3 bp larger than the predicted fragments, were often observed by study participants and organizers. The nine AFLP fragments exhibited relative intensities ranging from less than 3% to 22% and, apart from the two weakest fragments, with a % CV of 16 to 25. Fragments containing the highest guanine‐cytosine (GC) content of 50–56% showed the greatest stability in the AFLP profiles.
Differential gene expression in melanocytic nevi with the V600E BRAF mutation
Authors: Bloethner Sandra , Snellman Erna , Bermejo Justo Lorenzo , Hiripi Eva , Gast Andreas , Thirumaran Ranjit K. , Wellenreuther Ruth , Hemminki Kari , Kumar Rajiv 
Published: August 2007

AbstractWe studied gene expression in 18 melanocytic nevi with and four nevi without the V600E mutation in the BRAF gene using HG‐U133A 2.0 microarray with 22,277 transcripts. Data analysis revealed 92 genes up‐regulated and 105 genes down‐regulated in nevi with the mutation compared to nevi without mutation. Pathway analysis showed that differentially regulated genes mapped to 10 genetic networks. The major network included genes involved in cell death, cell cycle, and cellular growth and proliferation. Up‐regulated genes in nevi with the mutation included CDKN2A, CDKN1C, and MITF; whereas down‐regulated genes included those involved in apoptotic and other pathways. Principal component analysis identified 22 probe sets (20 genes) that caused separate segregation of nevi with and without mutations. In conclusion, our data showed differences in gene expression between nevi with and without the V600E BRAF mutation. Moreover, nevi with mutations showed over‐expression of genes involved in melanocytic senescence and cell cycle inhibition. © 2007 Wiley‐Liss, Inc.
FGFR1 over‐expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5′ CpG Island and abnormal expression of the AKT1, NOG, and BMP4 genes
Authors: Goldstein Myriam , Meller Isaac , Orr‐Urtreger Avi 
Published: August 2007

AbstractRhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma likely results from abnormal proliferation and differentiation during skeletal myogenesis. Multiple genetic alterations are associated with the three RMS histopathological subtypes, embryonal, alveolar, and pleomorphic adult variant. Recently, we reported the novel amplification of the FGFR1 gene in a RMS tumor. The involvement of FGFR1 in RMS was now further studied in primary tumors and RMS cell lines by mutation screening, quantitative RNA expression, and methylation analyses. No mutation was found by DHPLC and sequencing of the entire FGFR1 coding sequence and exon–intron boundaries. However, FGFR1 over‐expression was detected in all primary RMS tumors and cell lines tested. A hypomethylation of a CpG island upstream to FGFR1 exon 1 was identified in the primary RMS tumors, using sodium bisulfite modification method, suggesting a molecular mechanism to FGFR1 over‐expression. Expression analysis of additional genes, AKT1, NOG and its antagonist BMP4, which interact downstream to FGFR1, demonstrated expression differences between primary RMS tumors and normal skeletal muscles. Our data suggest an important role for FGFR1 and FGFR1‐downstream genes in RMS tumorigenesis and a possible association with the deregulation of proliferation and differentiation of skeletal myoblasts in RMS. © 2007 Wiley‐Liss, Inc.
Synthesis and low temperature transport properties of Mg2Ge1–ySby
Authors: Nolas G. S. , Wang D. , Lin X. 
Published: August 2007

AbstractWe report on the synthesis and low temperature transport of Mg2Ge1–y Sby with 0 ≤ y ≤ 0.33. In these materials Sb substitutes for Ge in the antifluorite structure. Electrical and thermal transport measurements indicate that as the Sb content increases, vacancies are formed on the Mg sites thereby contributing to variations in the transport properties. With increasing Sb content both the absolute Seebeck coefficient and electrical resistivity first decrease and then increase, while the thermal conductivity decreases monotonically. Hall measurements indicate this tendency is associated with vacancy formation at higher Sb concentrations. The lattice thermal conductivity is fitted using the Debye approximation in order to elucidate the effect of alloying. We discuss these results in terms of potential for thermoelectric applications. (© 2007 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Backscattering effect in quantitative AES sputter depth profiling of multilayers
Authors: Hofmann S. , Wang J. Y. , Zalar A. 
Published: August 2007

AbstractAES sputter depth profiles of multilayers with constituents of very different backscattering factors show characteristic distortions in the shape of the intensity–depth profiles. These distortions are quantified by introducing an extension of the local effective backscattering factor concept developed in an earlier paper in the mixing‐roughness‐information depth (MRI) model for profile quantification. The extension is based on a linear superposition of two newly defined parameters, the effective backscattering factors for each interface that are diminished with distance from the respective interface by another characteristic parameter, the mean effective backscattering decay length. As shown for a Ni/C multilayer structure of six alternating layers of Ni (38 nm) and C (25 nm) on a Si substrate, AES intensity depth profiles calculated with the presented modification of the MRI model, yield an excellent agreement with the measured profile after some adjustment of the initial mean effective backscattering decay lengths and, sometimes, after a slight change of the backscattering factors given by the Ichimura–Shimizu relations. The backscattering effect is studied as a function of the single layer thickness. A critical layer thickness can be determined, below which the backscattering influence becomes negligible for typical AES depth profiling results. Copyright © 2007 John Wiley & Sons, Ltd.
Long chain carboxylic acids containing ether linkage: V. N‐methyl substituted glycine‐type amphoterics containing alkoxy radical
Authors: Abe Yoshiro , Osanai Shuichi , Matsushita Takao 
Published: August 2007

AbstractThe substituted glycine‐type amphoteric surfactants containing long chain alkoxy and methylated amino groups, such as N‐(2‐alkoxyethyl)methylaminoacetic acids and (N‐[2‐alkoxyethyl]‐N‐[carboxymethyl] dimethylammonium) chlorides, or N‐(N‐[2‐alkoxyethyl]‐2‐aminoethyl) aminoacetic acids were synthesized, and their growth inhibitory activities against g positive, g negative bacilli, and some fungi were studied. The effect of substitution of methyl groups upon the amino group of the long chain alkoxyaminoacetic acids on their antimicrobial activities was examined, and the increasing effect, due to methyl substitution, was confirmed. The introduction of an aminoethyl radical between the alkoxyethyl and amino radicals of the substituted glycines also increased their antimicrobial activities. Dimethylsubstituted betain‐type amphoterics showed less antimicrobial activities than the corresponding glycinetype amphoterics. Moreover, aqueous solution of these substituted glycine‐type amphoteric compounds showed better surface activities at pH 4.0, 10.0 than at neutral pH.
Homogeneous catalytic metathesis of unsaturated fatty esters: New synthetic method for preparation of unsaturated mono‐and dicarboxylic acids
Authors: Van Dam P. B. , Mittelmeijer M. C. , Boelhouwer C. 
Published: August 2007

AbstractThe catalytic metathesis of unsaturated fatty esters is a new, versatile method for the synthesis of a variety of fatty derivatives and alkenes. Monounsaturated esters are converted into unsaturated dicarboxylic esters which might be important technologically for the production of new polyesters and polyamides, and for the synthesis of civetone‐type perfumes. Metathesis of linoleate and linolenate leads to a variety of hydrocarbons and mono‐ and dicarboxylates of different unsaturation. Joint reactions of unsaturated esters and alkenes are a useful means for the synthesis of homologues of oleic acid and other fatty acids. Metathesis of unsaturated fatty oils (olive, soybean, linseed, etc.) leads to the formation of high molecular dicarboxylic acid glyceryl esters with improved drying properties.
Catalytic carboxylation of fats: Carboxy acids from polyunsaturates
Authors: Frankel E. N. , Thomas F. L. , Kwolek W. F. 
Published: August 2007

AbstractStudies with a palladium chloride‐triphenylphosphine catalyst have been extended to the carboxylation of polyunsaturated fats. Linseed, soybean, and safflower oils, acids, and esters were carboxylated catalytically with water‐carbon monoxide (4000 psig) at 120–160 C with or without acetone as a solvent. Main products were monocarboxy, 1,3‐ and 1,4‐dicarboxy and tricarboxy acids. Minor products were carbomethoxy esters and disubstituted 2‐cyclopentenone. Optimum reaction conditions were determined for the carboxylation of linseed oil and methyl esters by statistically designed experiments. Yields of total carboxy and tricarboxy acids were maximized at low triphenylphosphine and water levels, low temperatures, and high palladium‐chloride concentrations. Carboxylated soybean esters were separated by ether extraction of the palladium catalyst from sodium carbonate or hydroxide carboxylate salts. This salt extraction permits catalyst recycling.
Analysis and monitoring oftrans‐isomerization by IR attenuated total reflectance spectrophotometry
Authors: Dutton H. J. 
Published: August 2007

AbstractAttenuated total reflectance for IR determination oftrans‐isomers in fats appears to have distinct advantages over procedures currently used. The AOCS standard method CD 14‐61 requires weighing and quantitative dilution of a sample with carbon disulfide before spectrophotometric analysis at 10.3 μm. In contrast, according to the attenuated total reflectance analytical procedure, one neither weighs nor dilutes but merely fills the cell with oil and reads at 10.3 μm. In addition to analyses fortrans‐isomers in liquid oils, margarines and shortenings, attenuated total reflectance enables one to monitortrans‐development continuously during hydrogenation. The presence of catalyst in unfiltered hydrogenated oils does not interfere with attenuated total reflectance measurements in contrast to classical transmission measurements. Unfiltered oil from the hydrogenator can be circulated through the attenuated total reflectance cell to recordtrans‐isomerization during the reaction.
Newborn screening: Experiences in the Middle East and North Africa
Authors: Saadallah A. A. , Rashed M. S. 
Published: August 2007

SummaryThis review presents the current experiences with newborn screening in the Middle East and North Africa region. The population in the region is about 400 million, with high birth rate and an estimated 10 million newborns per year. The majority of the population is of the Islamic faith and mostly Arab. The population is characterized by a high consanguinity (25–70%) and a high percentage of first‐cousin marriages. Haemoglobin disorders, inherited metabolic disorders, neurogenetic disorders and birth defects are relatively common among the population. There is a rather slow progress in developing and implementing preventive genetic programmes owing to legal, cultural, political and financial issues. Although research spending is rather soft in the region, there are numerous pilot studies that highlighted the high incidence of genetic defects and the need for newborn screening programmes. Currently, there are only four countries that are executing national newborn screening but they vary from one disease to 23 and coverage is not complete. The region needs to take big steps towards developing national strategies for prevention and should learn from experiences of regional and international screening programmes.
LC‐MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice‐acceptor site mutation in the SLC7A9 gene
Authors: Al‐Dirbashi O. Y. , Abu‐Amero K. K. , Alswaid A. F. , Hoffmann G. F. , Al‐Qahtani K. , Rashed M. S. 
Published: August 2007

SummaryCystinuria is an autosomal recessive disorder caused by defective transport of cystine and the dibasic amino acids ornithine, lysine and arginine across cell membranes. Poor solubility of cystine in urine leads to kidney stones and associated symptoms and complications. Mutations of genes SLC3A1 and SLC7A9 encoding for amino acid transport systems are responsible for different types of cystinuria. In this study we describe a new LC‐MS/MS assay for these amino acids in urine. Moreover, we report a novel splice‐acceptor site mutation in the SLC7A9 gene that we believe is the cause of the phenotype observed in four siblings from a first‐cousin marriage. Into the wells of a 96‐well microtitre plate, 10 μl of urine was mixed with 90 μl of a solution containing [2H4]cystine, [2H2]ornithine, [13C,2H4]arginine and [2H5]glutamine that was used as an internal standard for lysine. Chromatographic separation was achieved isocratically and detection was in the selected‐reaction monitoring mode. The injection‐to‐injection time was 8 min. Calibration curves were linear up to 1000 μmol/L. Intra‐day (n = 10) and inter‐day (n = 6) variations (750 and 10 μmol/L) were less than 11.4%. Urine samples from healthy individuals (n = 135) were analysed and age‐matched reference ranges were generated. The method was applied retrospectively and prospectively to analyse samples (n = 13) from nine cystinuria patients. The mutation reported here was not found in 100 controls with similar ethnicity to the studied family and is believed to have consequences for the transcribed mature RNA and protein structure and function.
Parental Narratives About Genetic Testing for Hearing Loss: A One Year Follow Up Study
Authors: Kaimal Girija , Steinberg Annie G. , Ennis Sara , Harasink Sue Moyer , Ewing Rachel , Li Yuelin 
Published: August 2007

AbstractFew studies examine whether and how parental attitudes towards genetic testing change over time. In this study we interviewed parents of 14 children with newly identified hearing loss at two time points: after referral to genetics and 1 year later. Qualitative analyses of parental narratives indicate that parental attitudes did not change significantly over this time. Parents who perceived genetic testing to be useful continued to value it after testing, while parents who did not perceive it as being useful for their child's future held the same view a year later. The only parents who changed their views regarding the usefulness of genetic testing for hearing loss were those who reported that their children underwent significant changes in their hearing loss or were faced with other life threatening conditions. Parents were also often unaware of the role of the genetic counselor and how genetic counseling could help address many of their lingering questions and concerns. These emergent themes indicate the need for geneticists and genetic counselors to be aware of and sensitized to the questions and attitudes that bring parents to a genetic evaluation, as well as the reasons why parents may not follow up with genetic testing for hearing loss when recommended.
An Investigation of Genetic Counselor Experiences in Peer Group Supervision
Authors: Zahm Kimberly W. , McCarthy Veach Patricia , LeRoy Bonnie S. 
Published: August 2007

AbstractPeer supervision groups have been studied in counseling fields including psychotherapy and social work. However, limited research exists regarding genetic counselor peer supervision groups. In the present study five major research questions were investigated: (1) How prevalent is peer group supervision among genetic counselors? (2) What motivates genetic counselors to join and continue to seek peer group supervision? (3) What comprises the content, agenda, and structure of group meetings? (4) What are participants’ perceptions of group dynamics, including conflicts, cohesion, and leadership? and (5) What are the perceived benefits and limitations of participating in peer group supervision? A total of 214 genetic counselors completed an online survey, and 70 (34.8%) reported being involved currently in peer group supervision. Fifteen of these 70 respondents were interviewed regarding their experiences in peer group supervision. Inductive analysis of their responses yielded 11 domains and 37 categories. Practice implications and research recommendations are discussed.
Layers of Metal Nanoparticles on Semiconductors Deposited by Electrophoresis from Solutions with Reverse Micelles
Authors: Zdansky K , Kacerovsky P , Zavadil J , Lorincik J , Fojtik A 
Published: August 2007

Abstract
Pd nanoparticles were prepared with reverse micelles of water/AOT/isooctane solution and deposited onto silicon or InP substrates by electrophoresis. A large change of capacitance-voltage characteristics of mercury contacts on a semiconductor was found after Pd deposition. This change could be modified when the Pd deposition is followed by a partial removal of the deposited AOT. The deposited Pd nanoparticles were investigated by optical mictroscopy, SIMS and SEM. Finally, Schottky diodes with barrier height as high as 1.07 eV were prepared by deposition of Pd nanoparticles on n-type InP and by a partial removal of superfluous AOT. These diodes are prospective structures for further testing as hydrogen sensors.
A Whole Body, In Vivo, Fatty Acid Balance Method to Quantify PUFA Metabolism (Desaturation, Elongation and Beta‐oxidation)
Authors: Turchini Giovanni M. , Francis David S. , De Silva Sena S. 
Published: August 2007

AbstractCurrently there are several contrasting methods utilized for estimating elongation and desaturation of fatty acids and their general metabolism. The majority of these methods involve an ex vivo approach, requiring expensive and sophisticated equipment, likely to result in considerable variation in enzyme activity between and within species. In the present paper we introduce a further development of the whole‐body fatty acid balance method for the estimation of the elongation and desaturation of fatty acids. This method though receiving considerable attention because of its simplicity and reliability has yet to be presented in detail. Theoretically, the whole‐body fatty acid balance method can potentially be applied to any organism and requires little more than a gas chromatography unit for fatty acid analysis and elementary calculations. As such in this paper we attempt to spell out in detail the theoretical basis and the methods of application drawing specific examples. Using the present method it is possible to measure the fate of individual fatty acids towards desaturation, elongation and oxidation and calculate the elongase, Δ‐6 desaturase and Δ‐5 desaturase activities.
Children's estimates of food portion size: the development and evaluation of three portion size assessment tools for use with children
Authors: Foster E. , Matthews J. N. S. , Lloyd J. , Marshall L. , Mathers J. C. , Nelson M. , Barton K. L. , Wrieden W. L. , Cornelissen P. , Harris J. , Adamson A. J. 
Published: August 2007

A number of methods have been developed to assist subjects in providing an estimate of portion size but their application in improving portion size estimation by children has not been investigated systematically. The aim was to develop portion size assessment tools for use with children and to assess the accuracy of children's estimates of portion size using the tools. The tools were food photographs, food models and an interactive portion size assessment system (IPSAS). Children (n201), aged 4–16 years, were supplied with known quantities of food to eat, in school. Food leftovers were weighed. Children estimated the amount of each food using each tool, 24 h after consuming the food. The age-specific portion sizes represented were based on portion sizes consumed by children in a national survey. Significant differences were found between the accuracy of estimates using the three tools. Children of all ages performed well using the IPSAS and food photographs. The accuracy and precision of estimates made using the food models were poor. For all tools, estimates of the amount of food served were more accurate than estimates of the amount consumed. Issues relating to reporting of foods left over which impact on estimates of the amounts of foods actually consumed require further study. The IPSAS has shown potential for assessment of dietary intake with children. Before practical application in assessment of dietary intake of children the tool would need to be expanded to cover a wider range of foods and to be validated in a ‘real-life’ situation.