bluuebunny/crossref_metadata_2025 huggingface dataset:
Ab initio prediction of the vibrational spectra of the hydrogen‐bonded complexes between CO and HONO2
Authors: Dimitrova Yordanka , Stamboliyska Bistra A.
Published: March 2003

The vibrational characteristics (vibrational frequencies and infrared intensities) for free and complexed CO and HONO2 have been predicted using ab initio calculations at SCF and MP2 levels with different basis sets and B3LYP/6−31G(d,p) calculations. The ab initio calculations show that the complexation between HONO2 and CO leads to two stable structures: CO … HONO2 (1A) and OC … HONO2 (1B). The changes in the vibrational characteristics from free monomers to complexes have been estimated. It was established that the most sensitive to the complexation is the stretching OH vibration. In agreement with the experiment, its vibrational frequency in the complexes is shifted to lower frequency (Δν = −123 cm−1). The magnitude of the wave number shift is indicative of relatively strong hydrogen‐bonded interaction. The ab initio calculations at different levels predict an increase of the infrared intensity of the stretching OH vibration for structure 1A more than five times and for structure 1B more than nine times. The most consistent agreement between the computed values of the frequency shifts for structure 1B and those experimentally observed suggests that this structure is preferred. © 2003 Wiley Periodicals, Inc. Int J Quantum Chem, 2003
Perturbational approach to the electron correlation cusp applied to helium‐like atoms
Authors: Sirbu Ioana , King Harry F.
Published: March 2003

A recently proposed perturbational approach to the electron correlation cusp problem Sirbu, I.; King, H. F. J Chem Phys 2002, 117, 6411–6416 is tested in the context of three spherically symmetrical two‐electron systems: helium atom, hydride anion, and a solvable model system. The interelectronic interaction is partitioned into long‐ and short‐range components. The long‐range interaction, lacking the singularities responsible for the electron correlation cusp, is included in the reference Hamiltonian. Accelerated convergence of orbital‐based methods for this smooth reference Hamiltonian is shown by a detailed partial wave analysis. Contracted orbital basis sets constructed from atomic natural orbitals are shown to be significantly better for the new Hamiltonian than standard basis sets of the same size. The short‐range component becomes the perturbation. The low‐order perturbation equations are solved variationally using basis sets of correlated Gaussian geminals. Variational energies and low‐order perturbation wave functions for the model system are shown to be in excellent agreement with highly accurate numerical solutions for that system. Approximations of the reference wave functions, described by fewer basis functions, are tested for use in the perturbation equations and shown to provide significant computational advantages with tolerable loss of accuracy. Lower bounds for the radius of convergence of the resulting perturbation expansions are estimated. The proposed method is capable of achieving sub‐μHartree accuracy for all systems considered here. © 2003 Wiley Periodicals, Inc. Int J Quantum Chem, 2003
Natural and synthetic sialic acid‐containing inhibitors of influenza virus receptor binding
Authors: Matrosovich Mikhail , Klenk Hans‐Dieter
Published: March 2003

Influenza viruses attach to susceptible cells via multivalent interactions of their haemagglutinins with sialyloligosaccharide moieties of cellular glycoconjugates. Soluble macromolecules containing sialic acid from animal sera and mucosal fluids can act as decoy receptors and competitively inhibit virus‐mediated haemagglutination and infection. Although a role for these natural inhibitors in the innate anti‐influenza immunity is still not clear, studies are in progress on the design of synthetic sialic acid‐containing inhibitors of receptor binding which could be used as anti‐influenza drugs. Copyright © 2003 John Wiley & Sons, Ltd.
Structural evidence for common functions and ancestry of the reovirus and adenovirus attachment proteins
Authors: Stehle Thilo , Dermody Terence S.
Published: March 2003

The crystal structure of the reovirus attachment protein, σ1, reveals a fibre‐like structure that is remarkably similar to that of the adenovirus attachment protein, fibre. Both proteins are trimers with head‐and‐tail morphology. They share unique domain structures and functional properties including defined regions of flexibility within the tail and an unusual symmetry mismatch with the pentameric viral capsid protein into which they are inserted. Moreover, the receptors for reoviruses and adenoviruses, junctional adhesion molecule 1 and coxsackievirus and adenovirus receptor, respectively, also share key structural and functional properties. Although reoviruses and adenoviruses belong to different virus families and have few properties in common, the observed similarities between σ1 and fibre point to a conserved mechanism of attachment and an ancient evolutionary relationship. Copyright © 2003 John Wiley & Sons, Ltd.
Cloning of herpesviral genomes as bacterial artificial chromosomes
Authors: Adler Heiko , Messerle Martin , Koszinowski Ulrich H.
Published: March 2003

Herpesviruses, which are important pathogens for both animals and humans, have large and complex genomes with a coding capacity for up to 225 open reading frames (ORFs). Due to the large genome size and the slow replication kinetics in vitro of some herpesviruses, mutagenesis of viral genes in the context of the viral genome by conventional recombination methods in cell culture has been difficult. Given that mutagenesis of viral genes is the basic strategy to investigate function, many of the herpesvirus ORFs could not be defined functionally. Recently, a completely new approach for the construction of herpesvirus mutants has been developed, based on cloning of the virus genome as a bacterial artificial chromosome (BAC) in E. coli. This technique allows the maintenance of viral genomes as a plasmid in E. coli and the reconstitution of viral progeny by transfection of the BAC plasmid into eukaryotic cells. Any genetic modification of the viral genome in E. coli using prokaryotic recombination proteins is possible, thereby allowing the generation of mutant viruses and facilitating the analysis of herpesvirus genomes cloned as infectious BACs. In this review, we describe the principle of cloning a viral genome as a BAC using murine gammaherpesvirus 68 (MHV‐68), a mouse model for gammaherpesvirus infections, as an example. Copyright © 2003 John Wiley & Sons, Ltd.
Scientific myth‐conceptions
Authors: Allchin Douglas
Published: March 2003

Using several familiar examples—Gregor Mendel, H. B. D. Kettlewell, Alexander Fleming, Ignaz Semmelweis, and William Harvey—I analyze how educators currently frame historical stories to portray the process of science. They share a rhetorical architecture of myth, which misleads students about how science derives its authority. Narratives of error and recovery from error, alternatively, may importantly illustrate the nature of science, especially its limits. Contrary to recent claims for reform, we do not need more history in science education. Rather, we need different types of history that convey the nature of science more effectively. © 2003 Wiley Periodicals, Inc. Sci Ed 87:329–351, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/sce.10055
One foot on the dock and one foot on the boat: Differences among preservice science teachers' interpretations of field‐based science methods in culturally diverse contexts
Authors: Yerrick Randy K. , Hoving Timothy J.
Published: March 2003

To support lasting change in science classrooms, efforts must be made to assist teachers in understanding the outcomes of their pedagogical choices. The process of reflection is not limited to experienced teachers' experiences, though we must recognize that preservice teachers do not draw upon the same vast repertoire and knowledge. The purpose of this study was to investigate preservice science teachers' beliefs about science teaching and learning through reflections on their own teaching with lower track science students. Using the major data sources of videotapes of teaching, stimulated recall interviews, and student journals we studied preservice teachers enrolled in a field based secondary science methods course working predominantly with rural Black children. Initially, preservice science teachers demonstrated similar practices, made similar inferences about teaching and learning, and relied upon similar domains of knowledge to gauge their teaching. By the end of the study, two discrete categories of preservice teachers emerged: (1) those who demonstrated an ability to reflect on and revise their practices and engage in the production of new teacher knowledge and (2) those who seemingly deflected efforts to shift their thinking and instead reproduced their own educational experience with a new student population. Implications for teacher education and research are discussed. © 2003 Wiley Periodicals, Inc. Sci Ed 87:390–418, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/sce.10057
Large Area Digital X‐ray Imaging
Authors: Tao S. , Karim K. S. , Servati P. , Lee C.‐H. , Nathan A.
Published: March 2003

This chapter reviews amorphous silicon devices for large area flat panel imaging technology. We present Schottky and p‐i‐n diode image sensors and elaborate on their operating principles, electrical and optoelectronic characteristics including stability, along with the challenges associated with reduction of the dark current. Issues pertinent to sensor‐thin film transistor integration for different active matrix pixel architectures for high fill factor imaging arrays are presented along with optimization of materials and processing conditions for reduced threshold voltage shift, reduced parasitics and leakage current, and enhanced mechanical integrity. Extension of the current fabrication processes to low (∼120°C) temperature, enabling fabrication of flexible imaging array (on plastic substrates), is also discussed.
Modular Microoptical Systems for Sensors and Telecommunication
Authors: Wallrabe U. , Mohr J.
Published: March 2003

This paper focuses on fabrication and assembly processes of modular and hybrid microoptical systems in use in sensor and telecommunication fields. These microoptical systems are made by a huge variety of processes, which are commonly known as microsystem technology. Nevertheless, quite a lot of them are based on the LIGA process, since LIGA is an “assembly friendly” technology.

Modular microoptical systems typically comprise several functions incorporating mechanical or electromechanical components beside the optical elements. The assembly of the diverse submounts and components is performed actively as well as passively. In many cases, all of these functions can be combined on one single chip. In several cases, however, a pair of chips, which is assembled in a flip‐chip like way, is used.

The framework of the paper leads to a definition of the terminus “modular microoptical system” and argues for the advantages of such a modular design approach. It closes with some remarks on automatic assembly strategies.
Automotive Sensor Market
Authors: Reinhart Karl‐Franz , Illing Matthias
Published: March 2003

Since the late 1970s electronic systems have found increasing use in the automobile. The value of electronics in cars has increased from near zero in the 1970s to almost 20% in a 2000 model mid‐class car. In luxury cars this content is even higher. At the same time, electronics are responsible for the majority of innovations and thus contribute strongly to differentiate the car from competitor products. Essentially all of the electronics systems — be it engine management, safety systems or convenience features — need one or multiple sensor signals as input to their signal processing. Over 100 different sensor applications in the car are known; a full‐featured luxury car typically contains 100 sensors or more. Therefore, the sensor market has seen at least as strong growth rates as the electronics market over the last two decades and will continue to do so for the foreseeable future. This chapter gives an overview of the automotive sensor market. It starts with a general overview of market size and growth and puts it into perspective with other relevant markets such as the general sensor market and the electronics market. The major distinctive features of the automotive market are explained. Another section details some of the major trends in technologies, products and certain regions. Finally, various market segments are highlighted in more detail. In conclusion, an outlook on possible future developments is given.
The wealthy world
Authors: Grosse Robert
Published: March 2003

John Edmunds. 2001. The Wealthy World: The Growth and Implications of Global Prosperity. New
York: Wiley. 108 pages.
Does cervical length at 13–15 weeks' gestation predict preterm delivery in an unselected population?
Authors: Conoscenti G. , Meir Y. J. , D'Ottavio G. , Rustico M. A. , Pinzano R. , Fischer‐Tamaro L. , Stampalija T. , Natale R. , Maso G. , Mandruzzato G.
Published: March 2003

Objective

To assess the role of early mid‐trimester cervical length measurement as a predictor of spontaneous preterm birth in an unselected population.

Methods

In this prospective study, unselected, asymptomatic, Caucasian women with singleton pregnancies underwent standardized transvaginal ultrasonographic (TVS) cervical length measurement at 13–15 weeks' gestation as a screening test for preterm delivery (PTD). Women with multiple gestations, iatrogenic PTD, and previous cervical conization were excluded. The primary outcome measures were spontaneous PTD at < 37 and < 34 weeks. The correlation between cervical length and previous obstetric history was evaluated.

Results

A total of 2469 patients met the inclusion criteria. The mean gestational age at cervical assessment was 14 + 2 weeks. The mean gestational age at delivery was 40 + 0 weeks. The rate of spontaneous deliveries before 37 weeks' gestation was 1.7%. In 0.2% the delivery occurred before 34 weeks' gestation. The mean ± standard deviation cervical length for the entire population was 44.2 ± 5.4 mm. No difference was observed between cervical length in women that delivered at term and those that delivered either before 37 or before 34 weeks' gestation. Previous obstetric history (prior preterm birth, previous miscarriages and terminations, and parity) did not affect cervical length at 14 weeks of gestation.

Conclusions

Performed at 14 weeks' gestation, TVS measurement of the cervical canal length to predict spontaneous PTD is not a reliable screening procedure. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.
Towards tests of QED in Lamb‐shift measurements of highly charged ions
Authors: Yerokhin V. A. , Artemyev A. N. , Beier T. , Goidenko I. A. , Labzowsky L. N. , Nefiodov A. V. , Plunien G. , Shabaev V. M. , Soff G.
Published: March 2003

The present status of theoretical predictions for the Lamb shift in heavy few‐electron ions is reviewed. We compare theoretical predictions with experimental data and discuss perspectives of testing quantum electrodynamics in a new region: the region of the strongest electrical fields available at present for experimental study. Copyright © 2003 John Wiley & Sons, Ltd.
Determination of absorption correction by the ‘two masses’ method for XRF analysis of intermediate samples
Authors: Sitko Rafał , Jurczyk Jerzy
Published: March 2003

A simple method for the determination of the absorption correction for intermediate samples is presented. This method consists in measurements of the intensity of radiation of an analyte element in two samples with different masses per unit area and with identical composition. The absorption correction can be determined for samples loaded on the thin or thick substrate or without substrate in the same way. The results obtained are compared with those given by an emission–transmission method with the use, as an example, of synthetic samples pressed into pellets. The absorption correction was also determined for geological samples collected on a filter mounted on a thick substrate. A simple apparatus for collecting powder material on the filter is presented. Copyright © 2003 John Wiley & Sons, Ltd.
Application of the backscatter fundamental parameter method for in situ element determination using a portable energy‐dispersive x‐ray fluorescence spectrometer
Authors: Wegrzynek Dariusz , Markowicz Andrzej , Chinea‐Cano Ernesto
Published: March 2003

The backscatter fundamental parameter (BFP) algorithm was adapted and modified for the use with a portable energy‐dispersive x‐ray fluorescence (EDXRF) spectrometer system. The method utilizes coherently and incoherently scattered peaks of primary radiation to estimate the ‘dark matrix’ of the analysed sample. A so‐called ‘full fundamental parameter’ model was implemented in the algorithm, allowing a simple calibration of the method using only one standard sample. To improve the accuracy of the method, the differential mass scattering cross‐sections were used. The algorithm also takes into account the secondary excitation effects. The method was applied to element determinations in various matrices with minimum sample preparation. It was tested in the laboratory with homogeneous samples prepared from standard reference materials and was also successfully applied to in situ element determinations in soil. The analyses were performed using a portable XRF spectrometer equipped with a 109Cd radioisotope source and an Si‐PIN photodiode detector. The BFP algorithm was found to perform well for the analysis of loose powder samples containing an unknown fraction of ‘dark matrix,’ and therefore it is regarded as suitable for in situ element determinations. Copyright © 2003 John Wiley & Sons, Ltd.
X‐ray absorption spectroscopic study on gold particles formed on titania and alumina
Authors: Matsuo Shuji , Tsukamoto Taiga , Kamigaki Aki , Okaue Yoshihiro , Yokoyama Takushi , Wakita Hisanobu
Published: March 2003

X‐ray absorption near‐edge structure (XANES) measurements near the Au L3 edge were made on Au(III) complex ions adsorbed on titania and alumina without a specific reducing agent. Compared with the XANES spectrum of a pure gold foil, the gold adsorbed on titania and alumina was found to be reduced to Au(0). The XANES method could obtain spectra of gold particles less than 1 nm in diameter, although a UV–visible absorption spectrum was difficult to observe with such samples. Copyright © 2003 John Wiley & Sons, Ltd.
Translational regulator RpL10p/Grc5p interacts physically and functionally with Sed1p, a dynamic component of the yeast cell surface
Authors: Oender Kamil , Loeffler Michael , Doppler Edith , Eder Michaela , Lach Sibylle , Heinrich Felix , Karl Thomas , Moesl Roland , Hundsberger Harald , Klade Torsten , Eckl Peter , Dickinson J. Richard , Breitenbach Michael , Koller Lore
Published: March 2003

Biogenesis of an active ribosome complement and a dynamic cell surface complement are two major determinants of cellular growth. In yeast, the 60S ribosomal subunit protein RpL10p/Grc5p functions during successive stages in ribosome biogenesis, specifically rRNA processing, nucle(ol)ar preribosomal subunit assembly, nucleo‐cytoplasmic transport and cytoplasmic maturation of ribosomes. Here, we report that a two‐hybrid screen identified yeast genes SED1, ACS2 and PLB3 as encoding proteins physically interacting with both ribosomal RpL10p/Grc5p and its human homologue hRpL10p/QMp. SED1 encodes a differentially expressed cell wall protein which is proposed to be first transiently secreted to the plasma membrane as a GPI (glycosylated derivative of phosphoinositol)‐anchored form and to be then transferred to the glucan layer of the cell wall. Ectopic expression of SED1 rescues both the aberrant growth phenotype and the translation defect of grc5‐1ts temperature‐sensitive cells. Furthermore, we report that Sed1p associates with translating ribosomes suggesting a novel, cytoplasmic role for Sed1p. ACS2 encodes one of the two yeast acetyl‐CoA synthases and represents a key enzyme in one of several metabolic routes to produce acetyl‐CoA, which in turn is indispensable for lipid biosynthesis. PLB3 encodes a phospholipase, which is active in the breakdown of membrane lipids. Our results support the view that Grc5p/RpL10p links ribosome function to membrane turnover and cell surface biogenesis. Copyright © 2003 John Wiley & Sons, Ltd.
Fluorokomplexe von Platin(II): Synthese, NMR‐ und Schwingungsspektren von Tetrafluoroplatinat(II) und Difluorooxalatoplatinat(II)
Authors: Preetz W. , Uttecht J.‐G. , Peters G.
Published: March 2003

Die Bestrahlung der Platin(IV)‐Verbindungen (n‐Bu4N)2[PtF4(ox)] und cis‐(n‐Bu4N)2[PtF2(ox)2] mit UV‐Licht bei —196 °C führt durch Redoxeliminierung eines Oxalatoliganden zu den neuen PtII‐Fluorokomplexen (n‐Bu4N)2[PtF4] (1) und (n‐Bu4N)2[PtF2(ox)] (2). Mit der Synthese von 1 ist jetzt die Reihe der Tetrahalogenoplatinate(II) komplettiert worden. Von Tetrafluoroplatinat(II) lassen sich auch die gleichfalls hellgelben Cs‐ und Bis‐(triphenylphosphin)iminium(PNP)‐Salze herstellen. Alle Verbindungen sind bei —30 °C mehrere Tage haltbar und zersetzen sich bei Raumtemperatur an der Luft innerhalb weniger Stunden unter Schwarzfärbung. Im IR‐Spektrum (60 K) von 1 beobachtet man die antisymmetrische PtF‐Valenzschwingung bei 515 und zwei Deformationsschwingungen bei 255 und 230 cm—1. Im Raman‐Spektrum (293 K) von (PNP)2[PtF4] erscheinen die symmetrischen PtF‐Valenzschwingungen bei 595 und 565 cm—1. Die Valenzkraftkonstante wird mit fd(PtF) = 3, 09 mdyn/Å berechnet. Die NMR‐Verschiebungen betragen δ(195Pt) = 6592 (1) und 5099 (2) und δ(19F) = —428 (1) und —393 (2) ppm mit den Kopplungskonstanten 1J(PtF) = 1747 (1) und 1385 Hz (2).
Leukocyte Adhesion’an Integrated Molecular Process at the Leukocyte Plasma Membrane
Authors: Gahmberg Carl G. , Valmu Leena , Kotovuori Annika , Kotovuori Pekka , Hilden Tiina J. , Fagerholm Susanna , Kantor Carmela , Nurminen Tuula , Ihanus Eveliina , Tian Li
Published: March 2003

Leukocyte adhesion is of pivotal functional importance, because most leukocyte functions depend on cell–cell contact. It must be strictly controlled, both at the level of specificity and strength of interaction, and therefore several molecular systems are involved. The most important leukocyte adhesion molecules are the selectins, the leukocyte-specific β2-integrins and the intercellular adhesion molecules. The selectins induce an initial weak contact between cells, whereas firm adhesion is achieved through integrin–intercellular adhesion molecular binding. Although studies during the past twenty years have revealed several important features of leukocyte adhesion much is still poorly understood, and further work dealing with several aspects of adhesion is urgently needed. In this short essay, we review some recent developments in the field.
The European history of psychotraumatology
Authors: Weisæth Lars
Published: March 2003

The history of European psychotraumatology shows that opposing cultural, social, economic, and political forces have influenced scientific development. Inevitably, the theories of traumatic stress reflect the spirit of the age. Several of today's controversies were already evident during World War 1: the risk of reinforcing evacuation and compensation syndromes by legitimising diagnostic labels, increased somatization when the psychological nature of the trauma or symptom is not understood, and the deleterious effect of treating the individual removed from his primary group setting. Towards the end of the nineteenth century and the beginning of the twentieth century the study of psychic trauma identified important intrapsychic phenomena, and, consequently, there was a neglect of the external stressor.
The Derryhirk Inn incident: The psychological sequelae
Authors: Daly Oscar E. , Johnston Timothy G.
Published: March 2003

A major incident occurred in a Northern Ireland bar in March 1997. One hundred and fifty customers were held at gunpoint. No one sustained any serious physical injury. Six months after the incident 68 individuals were assessed by means of a semistructured interview. Higher than expected levels of posttraumatic stress disorder (PTSD) were found. The severity of the incident, but not perceived life threat, was associated with the development of PTSD. The results of this preliminary study show that even in the absence of physical injury, significant psychopathology can occur.
Ligand Binding Characteristics and Aggregation Behavior of Purified Cow's Milk Folate Binding Protein Depends on the Presence of Amphiphatic Substances Including Cholesterol, Phospholipids, and Synthetic Detergents
Authors: Holm Jan , Hansen Steen Ingemann
Published: March 2003

Folate binding protein was purified from cow's milk by a combination of cation exchange chromatography and methotrexate-AH-sepharose affinity chromatography. Dilution of the preparation to concentrations of protein less than 10 nM resulted in drastic changes of radioligand (folate) binding characteristics, i.e., a decrease in binding affinity with a change from upward to downward convex Scatchard plots and increased ligand dissociation combined with appearance of weak-affinity aggregated forms of the binding protein on gel filtration. These findings, consistent with a model predicting dimerization between unliganded and liganded monomers, were reversed in the presence of material eluted from the affinity column after adsorption of the protein(cofactor) or cholesterol, phospholipids, and synthetic detergents. The latter amphiphatic substances form micelles and lipid bilayers which could separate hydrophobic unliganded monomers from hydrophilic liganded monomers in the surrounding aqueous medium and thereby prevent association between these monomeric forms prevailing at low concentrations of the protein. Our data have some bearings on studies which show that cholesterol and phospholipids are necessary for the clustering of folate receptors in the cell membrane; a process required for optimum receptor function and internalization of folate.
Ligand Binding Characteristics of Two Molecular Forms, One Equipped with a Hydrophobic Glycosyl Phosphatidylinositol Tail, of the Folate Binding Protein Purified from Human Milk
Authors: Holm Jan , Hansen Steen Ingemann
Published: March 2003

Two molecular forms of the folate binding protein were isolated and purified from human milk by a combination of cation exchange- and affinity chromatography. One protein (27 kDa) was a cleavage product of the other 100 kDa protein as evidenced by N-terminal amino acid sequence homology and a reduction in the molecular size of the latter protein to 27 kDa after cleavage of its hydrophobic glycosylphosphatidylinositol tail by phosphatidylinositol-specific phospholipase C. High-affinity binding of [3H]folate was characterized by upward convex Scatchard plots and increasing ligand binding affinity with decreasing concentrations of both proteins. Downward convex Scatchard plots and binding affinities showing no dependence on the protein concentration were, however, observed in highly diluted solutions of both proteins. Radioligand binding was inhibited by folate analogs, and dissociation of radioligand was slow at pH 7.4 but rapid and complete at pH 5.0 and 3.5. Ligand binding quenched the tryptophan fluorescence of the 27 kDa protein suggesting that tryptophan is present at the binding site and/or ligand binding induces a conformation change that affects tryptophan environment in the protein. The 27 kDa protein representing soluble folate binding protein exhibited a greater affinity for ligand binding than the 100 kDa protein which possesses a hydrophobic tail identical to the one that anchors the folate receptor to the cell membrane.
Glutaric aciduria type III: A distinctive non‐disease?
Authors: Knerr I. , Zschocke J. , Trautmann U. , Dorland L. , de Koning T. J. , Müller P. , Christensen E. , Trefz F. K. , Wündisch G. F. , Rascher W. , Hoffmann G. F.
Published: March 2003

Glutaric aciduria type III is a rare metabolic abnormality leading to persistent isolated glutaric acid excretion. We report the clinical and biochemical phenotypes of three affected children. The first patient is a boy with dysmorphic features and a chromosomal deletion (monosomy 6q26‐qter) in whom a persistent glutaric aciduria (500 mmol/mol creatinine, normal <10) was detected during a routine metabolic investigation. The second boy suffered from acute gastroenteritis and hyperthyroidism, when an excessively high urinary glutaric acid excretion was identified (1460 mmol/mol creatinine). The third patient is a girl with constantly elevated glutaric acid in her urine (290 mmol/mol creatinine) but no symptoms of significant disease. In all our patients, glutaric aciduria type I (glutaryl‐CoA dehydrogenase deficiency), glutaric aciduria type II (multiple acyl‐CoA dehydrogenation defect), and secondary forms of glutaric aciduria (for example due to intestinal infections or mitochondrial dysfunction) could be excluded. Loading with the precursor amino acid lysine in all patients as well as with pipecolic acid in the third case led to an increase in urinary glutaric acid excretion, proving the endogenous origin of glutarate. Glutaric aciduria type III (a defect reported to be caused by peroxisomal glutaryl‐CoA oxidase deficiency) is our presumptive diagnosis. However, peroxisomal glutaryl‐CoA oxidase is not well characterized and no reliable approach for the direct determination of this enzyme is available to us. To our knowledge, in the English language literature only a single patient with glutaric aciduria type III has been described. Our cases reported here confirm the earlier assumption that glutaric aciduria type III is not related to a distinctive phenotype. Glutaric aciduria type III appears to be a rare metabolic abnormality, presumably of peroxisomal metabolism. However, its pathophysiological impact still needs further investigation.
Selective screening of amino acid disorders in the south‐west of Iran, Shiraz
Authors: Golbahar J. , Karamizadeh Z. , Honardar Z.
Published: March 2003

A diagnostic study of amino acid concentrations in dried blood spot samples from 1044 symptomatic children revealed high incidences of phenylketonuria, tyrosinaemias, and maple syrup urine disease in the Shiraz region of Iran. Minimum incidences, based on babies born between 1996 and 2001 inclusive, and diagnosed by the end of 2001, are 1:3672, 1:10 651 and 1:21 303, respectively.
2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man
Authors: Olpin S. E. , Pollitt R. J. , McMenamin J. , Manning N. J. , Besley G. , Ruiter J. P. N. , Wanders R. J. A.
Published: March 2003

2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deterioration may be rapid or may follow a slower decline with a possible stabilization of the disorder on a low‐protein diet and appropriate medication. We report a 23‐year‐old man with 2‐methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency with a very mild clinical course. He had apparently normal early development and remained relatively well until the age of 6 years, when he contracted measles. Following this illness, his motor skills and school progress deteriorated. At 15 years he had significant dysarthria, and generalized rigidity with some dystonic and unusual posturing. He was then treated with a low‐protein high‐carbohydrate diet with a good response in terms of balance and gait. At 18 years he was given benzhexol (Artane), increased slowly from 2 mg to 6 mg daily, resulting in improvement in tremor and dystonia. At 23 years he can dress himself and works in sheltered employment but remains severely dysarthric.
Mutation screening for tyrosinaemia type I
Authors: Heath S. K. , Gray R. G. F. , McKiernan P. , Au K. M. , Walker E. , Green A.
Published: March 2003

This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.
A novel mutation in the gene for canine acid β‐galactosidase that causes GM1‐gangliosidosis in Shiba dogs
Authors: Yamato O. , Endoh D. , Kobayashi A. , Masuoka Y. , Yonemura M. , Hatakeyama A. , Satoh H. , Tajima M. , Yamasaki M. , Maede Y.
Published: March 2003

A homozygous recessive mutation, causing GM1‐gangliosidosis in Shiba dogs, was identified as a deletion of C nucleotide 1668 in the gene for canine acid β‐galactosidase, which was a novel mutation in canine GM1‐gangliosidosis.
Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5
Authors: Potter S. J. , Lu A. , Wilcken B. , Green K. , Rasko J. E. J.
Published: March 2003

Hartnup disorder is an inborn error of renal and gastrointestinal neutral amino acid transport. The cloning and functional characterization of the 'system B0' neutral amino acid transporter SLC1A5 led to it being proposed as a candidate gene for Hartnup disorder. Linkage analysis performed at 19q13.3, the chromosomal position of SLC1A5, was suggestive of an association with the Hartnup phenotype in some families. However, SLC1A5 was not linked to the Hartnup phenotype in other families. Linkage analysis also excluded an alternative candidate region at 11q13 implicated by a putative mouse model for Hartnup disorder. Sequencing of the coding region of SLC1A5 in Hartnup patients revealed two coding region polymorphisms. These mutations did not alter the predicted amino acid sequence of SLC1A5 and were considered unlikely to play a role in Hartnup disorder. There were no mutations in splice sites flanking each exon. Quantitative RT‐PCR of SLC1A5 messenger RNA in affected and unaffected subjects did not support systemic differences in expression as an explanation for Hartnup disorder. In the six unrelated Hartnup pedigrees studied, examination of linkage at 19q13.3, polymorphisms in the coding sequence and quantitation of expression of SLC1A5 did not suffice to explain the defect in neutral amino acid transport.
Gender and Social Security: Some Lessons from Europe
Authors: Ståhlberg Ann-Charlotte
Published: March 2003

Different social security schemes affect men and women differently. This article compares the family or single earner model with the individual or dual earner model and examines their impact on gender inequality. However, even where social security schemes are designed to be gender neutral, when applied in a context that is systematically structured by gender, it points out that they will have a different impact on men and women. The article examines the ways in which supposedly gender-neutral rules, in sickness benefit, survivors' pensions and old age pensions have affected men and women in Sweden and concludes that, if countries wish to achieve equal economic outcomes for men and women, they will need to introduce measures to equalise men's and women's commitments to the home and the labour market, and to enable women to attain higher-paid jobs on the same basis as men.
Administrative Challenges Associated for Social Security in Connection with Accession to the EU: The Case of Slovenia
Authors: Axelsson Runo
Published: March 2003

Based on a qualitative empirical study, this article describes the structure of the social security system in Slovenia and analyses the administrative challenges of the approaching EU accession. A mixed picture emerges from this study. The institutions in the health and pension sectors seem to be well prepared for the accession, while the institutions in the employment and family sectors need to develop both their internal organisation and their information systems to fulfil the requirements of the EU. What is required most of all, however, is improved coordination and collaboration between the different sectors and the different institutions within the social security system.
How to Write a Research Article for the Journal of Genetic Counseling
Authors: Bowen Natasha K.
Published: March 2003

The purpose of this paper is to provide guidance to contributors to the Journal of Genetic Counseling about preparing manuscripts that report findings of original research. While variations in reporting formats and standards are acknowledged, the paper aims to assist contributors in recognizing the essential components of research studies and of manuscripts describing such studies. A description of the purpose of each section and guidelines for writing each section are provided. Criteria for assessing the strengths and weaknesses of study design, sampling, measures, procedures, and data analyses are also discussed.
What Predicts the Use of Genetic Counseling Services After the Birth of a Child with Down Syndrome?
Authors: Collins Veronica , Halliday Jane , Williamson Robert
Published: March 2003

In the state of Victoria, Australia, a government funded genetic counseling service exists to meet the needs of families. An audit showed that many families do not use this service after the birth of a child with a genetic problem. To investigate this we surveyed families of children born with Down syndrome over 2 years in Victoria. Questionnaires were completed by 74 mothers, of whom only 18 had received genetic counseling between the birth and the time of the study (mean 3.5 years). Of those not receiving genetic counseling, 71% said they were not offered or had not heard of it. Mothers who had genetic counseling were younger than those who had not, and were more likely to have attended University. Those who had genetic counseling indicated less “satisfaction with care at the diagnosis” and were more likely to perceive their child as “unwell at birth” than those who were aware of genetic counseling but did not have it. Of those who did not have genetic counseling, over half were unclear about what it is, although 74% agreed with the statement “genetic counseling is most useful when planning to have another child.” Of those who had heard of genetic counseling, 73% said they were not sure how it could help. Many families with children with Down syndrome are not aware of the existence or functions of genetic counseling. With greater awareness, some may still choose not to have genetic counseling, but others enunciated needs that could be met by this service if it were offered to them.
Counting Photons in the Λ-Experiment
Authors: Dabrowska Anita
Published: March 2003

Dehmelt's Λ-experiment for a three-level atom with simultaneously driven strong and weak transition is studied within quantum stochastic calculus approach. The statistics of the emitted photons is found by the method of generating functional of the corresponding two-dimensional output counting process. In particular, the average waiting times for a count are calculated.
Nocturnal Versus Diurnal Pollination Success in Isertia laevis (Rubiaceae): A Sphingophilous Plant Visited by Hummingbirds
Authors: Wolff D. , Braun M. , Liede S.
Published: March 2003

Abstract: Isertia laevis (Rubiaceae) possesses flowers with traits typical for the pollination syndrome of sphingophily. Diurnal flower observation showed that nine different hummingbirds (Trochilidae) and one flower piercer (Coerebidae) were frequent visitors. Their activity on the flowers peaked in the morning hours. Very low nectar volumes were found in the morning (8.00 h) in unbagged flowers. Nectar volumes, however, reached their peaks (27 μl) at night (2.00 h) in bagged, as well as in unbagged flowers. At night few individuals of sphingids were observed. Pollination experiments showed that flowers presented to nocturnal pollinators from 18.00 h to 6.00 h had low fruit set (14 %) but high seed set (59 %). Flowers accessible from 6.00 h to 18.00 h for diurnal flower visitors showed high fruit set of 63 % but low seed set of 14 %. This suggests that pollination of individual flowers is less effective during daytime. Regarding relative reproductive success, i.e., efficiency of pollination defined as fruit set x seed set, both diurnal and nocturnal pollinators, however, are equally successful. We conclude that frequently occurring, but not very effective pollinators contribute substantially to seed production, when the expected pollinators are scarce.
Unique Tissue‐Specific Cell Cycle in Physcomitrella
Authors: Schween G. , Gorr G. , Hohe A. , Reski R.
Published: March 2003

Abstract: The moss Physcomitrella patens (Hedw.) B.S.G. is a novel tool in plant functional genomics as it has an inimitable high gene targeting efficiency facilitating the establishment of gene/function relationships.

Here we report, based on flow cytrometric (FCM) data, that the basic nuclear DNA content per cell of Physcomitrella is 0.53 pg, equating to a genome size of 1 C = 511 Mbp. Furthermore, we describe a unique tissue‐specific cell cycle change in this plant. Young plants consisting of only one cell type (chloronema) displayed one single peak of fluorescence in FCM analyses. As soon as the second cell type (caulonema) developed from chloronema, a second peak of fluorescence at half the intensity of the previous one became detectable, indicating that caulonema cells were predominantly at the G1/S transition, whereas chloronema cells were mainly accumulating at the G2/M transition. This conclusion was validated by further evidence: i) The addition of ammonium tartrate arrested Physcomitrella in the chloronema state and in G2/M. ii) Two different developmental mutants, known to be arrested in the chloronema/caulonema transition, remained in G2/M, regardless of age and treatment. iii) The addition of auxin or cytokinin induced the formation of caulonema, as well as decreasing the amount of cells in G2/M phase. Additionally, plant growth regulators promoted endopolyploidisation.

Thus, cell cycle and cell differentiation are closely linked in Physcomitrella and effects of plant hormones and environmental factors on both processes can be analysed in a straight forward way. We speculate that this unique tissue‐specific cell cycle arrest may be the reason for the uniquely high rate of homologous recombination found in the Physcomitrella nuclear DNA.
Control of neurotransmitter release by an internal gel matrix in synaptic vesicles
Authors: Reigada David , Díez-Pérez Ismael , Gorostiza Pau , Verdaguer Albert , Gómez de Aranda Inmaculada , Pineda Oriol , Vilarrasa Jaume , Marsal Jordi , Blasi Joan , Aleu Jordi , Solsona Carles
Published: March 2003

Neurotransmitters are stored in synaptic vesicles, where they have been assumed to be in free solution. Here we report that in
Torpedo
synaptic vesicles, only 5% of the total acetylcholine (ACh) or ATP content is free, and that the rest is adsorbed to an intravesicular proteoglycan matrix. This matrix, which controls ACh and ATP release by an ion-exchange mechanism, behaves like a smart gel. That is, it releases neurotransmitter and changes its volume when challenged with small ionic concentration change. Immunodetection analysis revealed that the synaptic vesicle proteoglycan SV2 is the core of the intravesicular matrix and is responsible for immobilization and release of ACh and ATP. We suggest that in the early steps of vesicle fusion, this internal matrix regulates the availability of free diffusible ACh and ATP, and thus serves to modulate the quantity of transmitter released.
Mutations that affect the ability of the vnd/NK-2 homeoprotein to regulate gene expression: Transgenic alterations and tertiary structure
Authors: Koizumi Keita , Lintas Carla , Nirenberg Marshall , Maeng Jin-Soo , Ju Jeong-Ho , Mack James W. , Gruschus James M. , Odenwald Ward F. , Ferretti James A.
Published: March 2003

The importance in downstream target regulation of tertiary structure and DNA binding specificity of the protein encoded by the
vnd/NK-2
homeobox gene is analyzed. The ectopic expression patterns of WT and four mutant
vnd/NK-2
genes are analyzed together with expression of two downstream target genes,
ind
and
msh
, which are down-regulated by
vnd/NK-2
. Three mutants are deletions of conserved regions (i.e.,
tinman motif
,
acidic motif
, and
NK-2 box
), and the fourth,
Y54M vnd/NK-2
, corresponds to a single amino acid residue replacement in the homeodomain. Of the four ectopically expressed mutant genes examined, only the Y54M mutation inactivates the ability of the vnd/NK-2 homeodomain protein to repress
ind
and
msh
. The
acidic motif
deletion mutant slightly reduced the ability of the protein to repress
ind
and
msh
. By contrast, both
tinman
and
NK-2 box
deletion mutants behaved as functional
vnd/NK-2
genes in their ability to repress
ind
and
msh
. The NMR-determined tertiary structures of the Y54M vnd/NK-2 homeodomain, both free and bound to DNA, are compared with the WT analog. The only structural difference observed for the mutant homeodomain is in the complex with DNA and involved closer interaction of the methionine-54 with A2, rather than with C3 of the (−) strand of the DNA. This subtle change in the homeodomain–DNA complex resulted in modifications of binding affinities to DNA. These changes resulting from a single amino acid residue replacement constitute the molecular basis for the phenotypic alterations observed on ectopic expression of the
Y54M vnd/NK-2
gene during embryogenesis.
Novel functions of the phosphatidylinositol metabolic pathway discovered by a chemical genomics screen with wortmannin
Authors: Zewail Amani , Xie Michael W. , Xing Yi , Lin Lan , Zhang P. Fred , Zou Wei , Saxe Jonathan P. , Huang Jing
Published: March 2003

We report a novel connection between the phosphatidylinositol (PI) metabolic pathway and the DNA replication and damage checkpoint pathway discovered from an unbiased chemical genomics screen. Substrates and products of PI kinases are important signaling molecules that affect a wide range of biological processes. The full collection of yeast deletion strains was screened to identify genes that confer altered sensitivity to the natural product wortmannin, a PI kinase inhibitor. These experiments have allowed us to explore metabolomic and proteomic implications of PI synthesis and turnover. This study also uncovers other biological processes affected by wortmannin treatment, including proteasome-mediated degradation and chromatin remodeling. Bioinformatic analyses were used to reveal the relative distances among cellular processes affected by wortmannin and protein–protein interactions in the wortmannin-sensitive proteomic subnetwork. These results illustrate the great utility of using a whole-genome approach in annotating the biological effects of small molecules and have clear implications for pharmacogenomics. Furthermore, our discovery points to a route to overcoming genome instability, a result of defective DNA damage signaling/repair and a hallmark of cancer.