bluuebunny/crossref_metadata_2025 huggingface dataset:
Remote atomic force microscopy of microscopic organisms: Technological innovations for hands‐on science with middle and high school students
Authors: Jones M. G. , Andre T. , Kubasko D. , Bokinsky A. , Tretter T. , Negishi A. , Taylor R. , Superfine R.
Published: December 2003

This study examined hands‐on experiences in the context of an investigation of viruses and explored how and why hands‐on experiences may be effective. We sought to understand whether or not touching and manipulating materials and objects could lead to a deeper, more effective type of knowing than that we obtain from sight or sound alone. Four classes of high school biology students and four classes of seventh graders participated in the study that examined students' use of remote microscopy with a new scientific tool called the nanoManipulator, which enabled them to reach out and touch live viruses inside an atomic force microscope. Half of the students received full haptic (tactile and kinesthetic) feedback from a haptic joystick, whereas half of the students were able to use the haptic joystick to manipulate viruses but the tactile feedback was blocked. Results showed that there were significant gains from pre‐ to postinstruction across treatment groups for knowledge and attitudes. Students in both treatment groups developed conceptual models of viruses that were more consistent with current scientific research, including a move from a two‐dimensional to a three‐dimensional understanding of virus morphology. There were significant changes in students' understandings of scale; after instruction, students were more likely to identify examples of nanosized objects and be able to describe the degree to which a human would have to be shrunk to reach the size of a virus. Students who received full‐haptic feedback had significantly better attitudes suggesting that the increased sensory feedback and stimulation may have made the experience more engaging and motivating to students. © 2003 Wiley Periodicals, Inc. Sci Ed 88:55–71, 2004; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/.sce10112
Cultural variations in strategic issue interpretation: relating cultural uncertainty avoidance to controllability in discriminating threat and opportunity
Authors: Barr Pamela S. , Glynn Mary Ann
Published: December 2003

We investigate cultural variations in the strategic issue labels of threats and opportunities. In a survey of 276 American and international respondents, we investigate the sensitivity of issue attributes that discriminate between threat and opportunity. We find that the cultural value of uncertainty avoidance (UA) had a significant effect: Compared to low UA cultures, individuals from high UA cultures were significantly more sensitive to controllability in perceiving strategic issues. However, other cultural value dimensions (individualism, masculinity, power distance) did not have similar effects. Our results point to the need to link specific cultural dimensions to specific aspects of strategic issue analysis. Copyright © 2003 John Wiley & Sons, Ltd.
Better late than never: a study of late entrants in household electrical equipment
Authors: Shamsie Jamal , Phelps Corey , Kuperman Jerome
Published: December 2003

For the most part, studies on timing of entry have attempted to determine the advantages that early entrants may be able to develop and hold over subsequent entrants. Given that a large number of firms attempt to enter at a much later stage in the development of the market, it is particularly surprising that little research has attempted to examine the differences in the ability of late movers to penetrate the market. In this paper, we focus exclusively on late movers and examine the extent to which their early success can be tied to existing market conditions, their resource strengths, and their strategic positioning. Copyright © 2003 John Wiley & Sons, Ltd.
A DNA region of Torulaspora delbrueckii containing the HIS3 gene: sequence, gene order and evolution
Authors: Aller‐Arranz Elena , Randez‐Gil Francisca , Barrio Eladio , Prieto Jose Antonio
Published: December 2003

We cloned a genomic DNA fragment of the yeast Torulaspora delbrueckii by complementation of a Saccharomyces cerevisiae his3 mutant strain. DNA sequence analysis revealed that the fragment contained two complete ORFs, which share a high similarity with S. cerevisiae His3p and Mrp51p, respectively. The cloned TdHIS3 gene fully complemented the his3 mutation of S. cerevisiae, confirming that it encodes for the imidazoleglycerol‐phosphate dehydrate of T. delbrueckii. Two additional ORFs, with a high homology to S. cerevisiae PET56 and DED1 genes, were mapped upstream and downstream from TdHIS3 and TdMRP51, respectively. This genetic organization is analogous to that previously found in Saccharomyces kluyveri and Zygosaccharomyces rouxii. The evolutionary significance of gene order in this chromosomal region is analysed and discussed. The GeneBank Accession No. for the sequenced DNA fragment is AY238990. Copyright © 2003 John Wiley & Sons, Ltd.
Boreal temperature variability inferred from maximum latewood density and tree-ring width data, Wrangell Mountain region, Alaska
Authors: Davi Nicole K. , Jacoby Gordon C. , Wiles Gregory C.
Published: December 2003

Variations in both width and density of annual rings from a network of tree chronologies were used to develop high-resolution proxies to extend the climate record in the Wrangell Mountain region of Alaska. We developed a warm-season (July–September) temperature reconstruction that spans A.D. 1593–1992 based on the first eigenvector from principal component analysis of six maximum latewood density (MXD) chronologies. The climate/tree-growth model accounts for 51% of the temperature variance from 1958 to 1992 and shows cold in the late 1600s–early 1700s followed by a warmer period, cooling in the late 1700s–early 1800s, and warming in the 20th century. The 20th century is the warmest of the past four centuries. Several severely cold warm-seasons coincide with major volcanic eruptions. The first eigenvector from a ring-width (RW) network, based on nine chronologies from the Wrangell Mountain region (A.D. 1550–1970), is correlated positively with both reconstructed and recorded Northern Hemisphere temperatures. RW shows a temporal history similar to that of MXD by increased growth (warmer) and decreased growth (cooler) intervals and trends. After around 1970 the RW series show a decrease in growth, while station data show continued warming, which may be related to increasing moisture stress or other factors. Both the temperature history based on MXD and the growth trends from the RW series are consistent with well-dated glacier fluctuations in the Wrangell Mountains and some of the temperature variations also correspond to variations in solar activity.
JOSEPH A. KECHICHIAN, Succession in Saudi Arabia (New York: Palgrave, 2001). Pp. 297.
Authors: GAUSE III F. GREGORY
Published: December 2003

In any monarchy, court gossip is the coin of the realm. Every observer of Saudi Arabia has his or her own theories of who is up and who is down, who is joining with whom and who has betrayed former allies, and who is with America and who is against America among the princes of the al-Saעud. Like most gossip, most court gossip is wrong. The safe rule regarding the family politics of the al-Saעud is that “those who know do not talk, and those who talk do not know.” Joseph Kechichian has therefore tackled the hardest question there is in the analysis of Saudi Arabian politics, and does as good a job as any outsider can hope to do. While those who talk usually do not know, Kechichian has talked to some who do know, including many members of the ruling family. His conclusions about future successions in Saudi Arabia, of necessity are speculative, but they are well informed.
INDIVIDUAL DIFFERENCES IN FOREIGN LANGUAGE LEARNING: EFFECTS OF APTITUDE, INTELLIGENCE, AND MOTIVATION.Steve Cornwell and Peter Robinson (Eds.). Tokyo: Aoyama Gakuin University, 2000. Pp. ii + 199. $29.00 paper.
Authors: Dörnyei Zoltán
Published: December 2003

This edited volume contains the proceedings of a conference on the role of individual differences in instructed SLA held at Aoyama Gakuin University in 1999. It includes 11 studies as well as an introductory chapter written by the editors. The first two papers, by Yamashiro and McLaughlin and by Hiser, Croker, Kenudson, and Stribling, present multivariate statistical analyses to examine the interrelationship between motivation, second language (L2) proficiency, and other learner characteristics in Japanese student samples. Although both studies offer unique insights into the characteristics of their target population, the authors also call for methodological improvements that would go beyond the use of self-report questionnaires. Sharing a similar interest in improving motivation research methodology, another study by Hsiao explicitly sets out to test the construct validity of the most well known motivation test—Gardner's Attitude/Motivation Test Battery—in Taiwan, which is a very different learning environment from Canada, where the test was originally developed. Özek and Williams's paper is also of interest in this respect because in their study a questionnaire survey conducted in Turkey was complemented with qualitative interviews, thereby resulting in a particularly rich database.
Alligator Mound: Geoarchaeological and Iconographical Interpretations of a Late Prehistoric Effigy Mound in Central Ohio, USA
Authors: Lepper Bradley T. , Frolking Tod A.
Published: November 2003

Alligator Mound is an animal effigy mound in central Ohio, USA. Since Ephraim Squier and Edwin Davis first recorded and mapped it in 1848, many have speculated regarding its age and meaning, but with remarkably little systematic archaeological investigation. Many scholars have assumed the Hopewell culture (c. 100 BC-AD 400) built the mound, based principally on its proximity to the Newark Earthworks. The Hopewell culture, however, is not known to have built other effigy mounds. Limited excavations in 1999 revealed details of mound stratigraphy and recovered charcoal embedded in mound fill near the base of the mound. This charcoal yielded radiocarbon dates that average between AD 1170 and 1270, suggesting that the Late Prehistoric Fort Ancient culture (c. AD 1000-1550) made the mound. This result coincides with dates obtained for Serpent Mound in southern Ohio and suggests that the construction of effigy mounds in eastern North America was restricted to the Late Woodland and Late Prehistoric traditions. Ethnographic and ethnohistoric analogies suggest that the so-called 'Alligator' might actually represent the Underwater Panther and have served as a shrine for invoking the aid of supernatural powers.
Ritually Orchestrated Seascapes: Hunting Magic and Dugong Bone Mounds in Torres Strait, NE Australia
Authors: McNiven Ian J. , Feldman Ricky
Published: November 2003

People dwell in a world of their own subjective making. For many hunters, engagement with the ‘natural’ world is a negotiated affair because animals, like people, possess spirits. A critical part of the negotiation process is mediation of the human–prey relationship by hunting magic. Torres Strait Islanders of NE Australia are skilled hunters of dugongs, a marine mammal whose capture entails a broad range of ritual practices. Following ethnographic expectations, excavation of bone mounds reveals ritual treatment of dugong bones, especially skulls, to increase hunting success. Extensive use of dugong bones in ritual sites has important implications for the extent to which ‘secular’ midden deposits are representative of Islander subsistence practices. Since dugong bone mounds provide archaeological insights into Islander spiritual relationships with dugongs, chronological changes in use of these sites inform us about historical developments in Islander ontology and their ritual orchestration of seascapes and spiritual connections to the sea.
History, Timelessness and the Monumental: the Oboos of the Mergen Environs, Inner Mongolia
Authors: Evans Christopher , Humphrey Caroline
Published: November 2003

Concerned with the ‘meaning’, variability and material transformation of the sacred oboo cairns of Inner Asia, this study focuses upon four of these stone settings within the environs of Mergen Monastery. Two have been rebuilt since their destruction during the Cultural Revolution, and one markedly registers its recent history. The layout of these complex monuments (involving diverse ancillary elements) reflects the processes of Buddhicization of the landscape. Comparison between their form and Buddhist texts outlining oboo construction allows appraisal of their prescription and actuality. These monuments raise issues relevant beyond their immediate cultural and geographical context, as they express an interplay between history and ‘timelessness’; the latter effectively amounting to a ‘reincarnation’ of material culture (i.e. denial of change). Finally, the deployment of oboos relates to broader concepts of landscape orientation; their relationship with Mongolian directional systems is explored.
Testing the ‘Three Stages of Trance’ Model
Authors: Helvenston Patricia A. , Bahn Paul G. , Bradshaw John L. , Chippindale Christopher
Published: November 2003

In October of 2002, Patricia A. Helvenston and Paul G. Bahn published a paper entitled ‘Desperately Seeking Trance Plants: Testing the “Three Stages of Trance” Model’. That paper presented a critique of the ‘Three Stages of Trance’ model as proposed by J.D. Lewis-Williams and T.A. Dowson in 1988 to account for mental imagery as perceived by people in ‘certain altered states of consciousness’ that they believed inspired Palaeolithic cave art. Helvenston & Bahn chose to publish their paper privately, but supplied the following summary of their argument. It is accompanied here by comments from a neuropsychologist (John L. Bradshaw) and a rock-art specialist (Christopher Chippindale).
Review Feature: A review of The Mind in the Cave: Consciousness and the Origins of Art by David Lewis-Williams. London: Thames & Hudson, 2002. ISBN 0-500-05117-8 hardback £18.95 & US$29.95; 320 pp., 66 figs., 29 colour plates
Authors: Lewis-Williams David , Lawson E. Thomas , Helskog Knut , Whitley David S. , Mellars Paul
Published: November 2003

David Lewis-Williams is well-known in rock-art circles as the author of a series of articles drawing on ethnographic material and shamanism (notably connected with the San rock art of southern Africa) to gain new insights into the Palaeolithic cave art of western Europe. Some 15 years ago, with Thomas Dowson, he proposed that Palaeolithic art owed its inspiration at least in part to trance experiences (altered states of consciousness) associated with shamanistic practices. Since that article appeared, the shamanistic hypothesis has both been widely adopted and developed in the study of different rock-art traditions, and has become the subject of lively and sometimes heated controversy. In the present volume, Lewis-Williams takes the argument further, and combines the shamanistic hypothesis with an interpretation of the development of human consciousness. He thus enters another contentious area of archaeological debate, seeking to understand west European cave art in the context of (and as a marker of) the new intellectual capacities of anatomically modern humans. Radiocarbon dates for the earliest west European cave art now place it contemporary with the demise of the Neanderthals around 30,000 years ago, and cave art, along with carved or decorated portable items, appears to announce the arrival and denote the success of modern humans in this region. Lewis-Williams argues that such cave art would have been beyond the capabilities of Neanderthals, and that this kind of artistic ability is unique to anatomically modern humans. Furthermore, he concludes that the development of the new ability cannot have been the product of hundreds of thousands of years of gradual hominid evolution, but must have arisen much more abruptly, within the novel neurological structure of anatomically modern humans. The Mind in the Cave is thus the product of two hypotheses, both of them contentious — the shamanistic interpretation of west European Upper Palaeolithic cave art, and the cognitive separation of modern humans and Neanderthals. But is it as simple as that? Was cave art the hallmark of a new cognitive ability and social consciousness that were beyond the reach of previous hominids? And is shamanism an outgrowth of the hard-wired structure of the modern human brain? We begin this Review Feature with a brief summary by David Lewis-Williams of the book's principal arguments. There follows a series of comments addressing both the meaning of the west European cave art, and its wider relevance for the understanding of the Neanderthal/modern human transition.
Introduction
Authors: Fisher Genevieve , Loren Diana DiPaolo
Published: November 2003

This article provides a brief overview of recent archaeological literature about bodily constructions of identity. We introduce themes of embodiment, landscape, appearance, representation, and symbolism and discuss how presentations of the body are used to construct identities in social contexts. By focusing on the ways in which individuals create and experience themselves through their bodies, archaeologists are better able to comprehend them as culturally-specific, multiply-constituted social beings. The presentation of self can then be used to interpret the social and physical aspects (gender, race, religion, sexuality, age, etc.) that are key to the construction of identities in everyday life.
Refashioning a Body Politic in Colonial Louisiana
Authors: Loren Diana DiPaolo
Published: November 2003

This article examines the boundaries of clothing and the body in constructions of political identity in French colonial Louisiana. The study situates constructions of political identity among regulatory demands over the bodies of colonial subjects and the practices of taste and social distinction. It is argued that dress allowed colonial subjects to move into political spaces usually occupied by European colonizers. Archaeological, ethnohistoric, and visual data are used to investigate how French colonizers attempted to construct a body politic by regulating dress and the bodies of colonial subjects, while colonial ‘others’ attempted to constitute themselves as political bodies through self-fashioning.
Bodies Moving in Space: Ancient Mesoamerican Human Sculpture and Embodiment
Authors: Bachand Holly , Joyce Rosemary A. , Hendon Julia A.
Published: November 2003

Judith Butler's proposal that embodiment is a process of repeated citation of precedents leads us to consider the experiential effects of Mesoamerican practices of ornamenting space with images of the human body. At Late Classic Maya Copáan, life-size human sculptures were attached to residences, intimate settings in which body knowledge was produced and body practices institutionalized. Moving through the space of these house compounds, persons would have been insistently presented with measures of their bodily decorum. These insights are used to consider the possible effects on people of movement around Formative period Olmec human sculptures, which are not routinely recovered in such well-defined contexts as those of the much later Maya sites.
Making Something of Herself: Embodiment in Life and Death at Playa de los Muertos, Honduras
Authors: Joyce Rosemary A.
Published: November 2003

Through an analysis of hand-modelled human figurines created in the Ulua River Valley of northern Honduras between 900 and 200 bc, this article explores the recursive links between crafting representations of bodies and crafting physical bodies. ‘Playa de los Muertos’-style figurines are characterized by extremely detailed treatment of hair and ornaments. They have been treated as unique portraits, each individualized, and have resisted broader archaeological interpretation. Drawing on recent excavation data, this article explores the treatment of bodies and representations of bodies within a single set of interconnected villages as material media of embodiment.
Frank Ramsey
Authors: Bollobas Béla , Thomason Andrew
Published: December 2003

The name of Frank Ramsey is universally known amongst combinatorial mathematicians, but our casual mental picture of him can easily be an unimpressive one – the man who almost stumbled across the theorem that now bears his name, thereby anticipating Erdős and Szekeres, who of course gave the proper proof. Such an idea of Ramsey is entirely false: he was an absolutely brilliant man, who would certainly have become even more famous had he not died so young, and who would surely, it could easily be argued, have made yet further remarkable contributions to philosophy, economics and logic – and to combinatorics.
Case Report: 3‐Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib
Authors: Law L. K. , Tang N. L. S. , Hui J. , Lam C. W. K. , Fok T. F.
Published: December 2003

We report elevated urinary excretion of 3‐methylglutaconic (3MGC) and 3‐methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10‐fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC acid excretion correlated with plasma lactate and glucose. We speculate that imbalanced gluconeogenesis and de novo cholesterol synthesis result in secondarily increased 3MGC/3MGR production.
Case Report: Severe phenotype despite high residual glutaryl‐CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I
Authors: Mühlhausen C. , Christensen E. , Schwartz M. , Muschol N. , Ullrich K. , Lukacs Z.
Published: December 2003

We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi
Authors: Niers L. , Heuvel L. van den , Trijbels F. , Sengers R. , Smeitink J.
Published: December 2003

Summary: Prenatal diagnosis for respiratory chain deficiencies is a complex procedure that requires a thorough diagnostic work‐up of the index patient. This includes confirmation of the clinical and metabolic evaluations through histological and enzymatic examinations of tissue biopsies. Prenatal diagnosis currently relies on biochemical assays of respiratory chain complexes in chorionic villi or amniocytes and is possible by mutation analysis of nuclear genes in a limited but increasing proportion of cases. Based on a recent survey of prenatal diagnosis in families with complex I and complex IV deficiencies, performed at Nijmegen Centre for Mitochondrial Disorders (NCMD), prerequisites and strategies for performing prenatal diagnosis have been developed to increase reliability. Biochemical investigations in chorionic villi can be done reliably if the respiratory chain enzyme deficiency is expressed in both skeletal muscle and skin fibroblasts to rule out tissue specificity. No mitochondrial DNA defects must be suspected or established. The NCMD does not offer prenatal diagnosis until all the prerequisites have been confirmed. We expect prenatal diagnosis at the molecular level to become more feasible in time as the mutational spectrum broadens with advances in medical research.
Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II
Authors: Bembi B. , Ciana G. , Martini C. , Benettoni A. , Gombacci A. , Deganuto M. , Pittis M. G.
Published: December 2003

Summary: Glycogenosis type II (GSD II) is a lysosomal storage disorder due to acid α‐glucosidase deficiency. We report the results of a clinical multidisciplinary approach in two cases of nonclassical infantile GSD II. The patients received a high‐protein diet by percutaneous enteral gastrostomy (PEG), mechanical ventilatory support by tracheostomy and a physiotherapy programme. After 12 months of treatment, the patients showed significant improvement in muscular strength, nutritional state and respiratory function. Electrocardiography (ECG) and echocardiography improved in both patients. They maintained good clinical conditions for a period of 18 and 20 months, respectively; thereafter they presented with an elevated and persistent fever that was not correlated to a septic status and was not responsive to any antipyretic treatment. They deteriorated progressively and died. This study shows how a multidisciplinary approach may be useful to improve, even if temporarily, the clinical course of nonclassical infantile GSD II.
A model of neuronopathic Gaucher disease
Authors: Campbell P. E. , Harris C. M. , Sirimanna T. , Vellodi A.
Published: December 2003

Summary: Gaucher disease (GD) is a lysosomal disorder involving the accumulation of glucocerebroside in the liver, spleen, bones and brain. Some patients exhibit only systemic disease (type I), but others have additional neurological signs which may lead to rapid neurodegeneration in infancy (type II) or take a more intermediate course (type III). Types II and III are collectively known as neuronopathic Gaucher disease (NGD). Systemic disease can now be treated by enzyme replacement therapy (ERT), but its efficacy in NGD is limited. Two infants who presented with bulbar palsy and failure to thrive were enzymatically diagnosed at 8 months with NGD. They were started on high‐dose ERT (120 IU/kg every 2 weeks). Both underwent serial oculomotor assessment and an audiological battery, including visual reinforcement audiometry, otoacoustic emissions, and the auditory brain stem response (ABR). Biochemical markers showed an incomplete systemic response to ERT, but neurological deterioration was relentless, leading to death at 16 and 25 months. Oculomotor testing revealed a complete absence of saccadic eye movements and progressive bilateral sixth nerve palsy in one. Audiological assessment revealed progressive deterioration of ABRs, but with normal peripheral hearing and otoacoustic emissions. Both infants showed neurological deterioration in spite of high‐dose ERT. The audiological findings suggested a loss of inner hair cell pathway function with preserved outer hair function, similar to what is seen in auditory neuropathy. The unusual pattern of audiological and oculomotor abnormalities is consistent with an excitotoxic mechanism predisposing nerve cells to glucocerebroside toxicity. Such excitotoxic damage may be amenable to direct therapeutic intervention.
Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies
Authors: László Á. , Schuler É. Á. , Sallay É. , Endreffy E. , Somogyi Cs. , Várkonyi Á. , Havass Z. , Jansen K. P. , Wolf B.
Published: December 2003

Summary: From 1989 to 2001, 1 336 145 newborns were screened for biotinidase deficiency in Hungary. Fifty‐eight children with the disorder were identified as enzyme‐deficient. We have characterized the clinical and biochemical features and mutations of 20 of these children. Eleven children had profound biotinidase deficiency, 7 had partial biotinidase deficiency, and 2 were found to be heterozygous for profound deficiency by mutation analysis. Seventeen different mutations were identified in this population including seven novel mutations. Six of these new mutations are missense, 245C>A, 334G>A, 652G>C, 832C>G, 1253G>C, 1511T>A, and one is a unique allelic double mutation [212T>C;236G>A]. Of five Romanian Gypsies, four were homozygous for the 1595C>T mutation and one was heterozygous for this mutation. Most of the children with profound deficiency have been asymptomatic on therapy; however, four exhibited minimal brain abnormalities, motor delay and abnormal blood chemistries. Compliance with therapy must be questioned in these cases. Of clinical importance, all of the children with partial deficiency exhibited mild symptoms at the time of diagnosis, at several weeks to months of age. These symptoms resolved following biotin therapy. This is in contrast to the experience in the United States, where the children with partial deficiency have been asymptomatic at the time of diagnosis. This finding further indicates that children with partial deficiency should be treated. The incidence of biotinidase deficiency in Hungary is more than twice that observed in a worldwide survey. These results indicate that newborn screening in Hungary is effective and warranted.
A neurological symptom survey of patients with type I Gaucher disease
Authors: Pastores G. M. , Barnett N. L. , Bathan P. , Kolodny E. H.
Published: December 2003

Summary: Gaucher disease is an inborn error of glycosphingolipid metabolism resulting from deficiency of the lysosomal enzyme glucocerebrosidase. The majority of the patients (with type I disease) do not have primary central nervous system involvement. However, several studies have noted that secondary neurological complications may develop as a consequence of nerve root or spinal cord compression following vertebral body collapse or, for those with coagulation disorders, bleeding within confined compartments. An epidemiological survey was conducted to ascertain the incidence of neurological symptoms in patients with Gaucher disease type I (GD I). The survey included a review of the patients' medical history, an estimate of Gaucher disease severity according to a modified Symptom Severity Index (SSI), and completion of a questionnaire regarding their neurological status and Quality of Life (QoL) according to the SF‐36 Health Survey. Seventy‐three per cent of respondents were found to have experienced at least one neurological complaint in the preceding 3 months. Adult patients with Gaucher disease often have other medical problems unrelated to their primary diagnosis. Thus, the high incidence of neurological complaints in these patients may be attributable to concurrent medical problems and/or side‐effects from concomitant medications. These issues may influence patients' assessment of their disease severity and/or response to treatment.
Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1α subunit
Authors: Wu Yong‐Ge , Chen Wen‐Yang , Zhang Zi‐Wei , Yang Gui‐Zheng , Li Wei , Duggleby Ronald G.
Published: December 2003

Summary: Mutations in the E1α subunit of the pyruvate dehydrogenase multienzyme complex may result in congenital lactic acidosis, but little is known about the consequences of these mutations at the enzymatic level. Here we characterize two mutants (F205L and T231A) of human pyruvate dehydrogenase in vitro, using the enzyme expressed in Escherichia coli. Wild‐type and mutant proteins were purified successfully and their kinetic parameters were measured. F205L shows impaired binding of the thiamin diphosphate cofactor, which may explain why patients carrying this mutation respond to high‐dose vitamin B1 therapy. T231A has very low activity and a greatly elevated Km for pyruvate, and this combination of effects would be expected to result in severe lactic acidosis. The results lead to a better understanding of the consequences of these mutations on the functional and structural properties of the enzyme, which may lead to improved therapies for patients carrying these mutations.
Case Report: Rhabdomyolysis in Glutaric Aciduria Type I
Authors: Chow S. L. , Rohan C. , Morris A. A. M.
Published: December 2003

Recurrent rhabdomyolysis has previously been reported in one patient with glutaric aciduria type I. We report rhabdomyolysis in a second, unrelated patient, suggesting that there may be a specific association with this metabolic disorder.
Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy
Authors: Morava E. , Hol F. A. , Janssen A. , Smeitink J.
Published: December 2003

We describe two children carrying an inherited T899C mutation in the mitochondrial ATPase 6 gene with mild encephalopathy and normal postnatal growth followed by tall stature and obesity. No familial tall stature, endocrine anomaly or advanced skeletal age were present. Failure to thrive is a characteristic finding in most patients with a mitochondrial disease. Our observations suggest that children with encephalomyopathy, even in the presence of a significant clinical overgrowth, should be screened for a possible defect in oxidative phosphorylation.
Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy
Authors: Pietz J. , Lutz T. , Zwygart K. , Hoffmann G. F. , Ebinger F. , Boesch C. , Kreis R.
Published: December 2003

Summary: Transport of phenylalanine (Phe) and the other large neutral amino acids across the blood–brain barrier plays a crucial role in the pathogenesis of phenylketonuria (PKU). Thus, investigation of Phe transport kinetics by means of proton magnetic resonance spectroscopy (1H MRS) became an important research area in the mid 1990s. As 1H MRS measurements of brain phenylalanine are restricted to tissue concentrations above 100–150 µmol/kg wet weight, this approach was possible only in PKU patients, and comparison with healthy controls was not achieved. Using standardized single‐dose oral Phe loading in three healthy subjects, it was shown that Phe values increase steeply, peak at about 1 h post load, and decrease thereafter. In a single case study, repetitive Phe loading was then performed to achieve a plateau of high blood Phe concentrations for several hours. It was demonstrated that detection and monitoring of brain Phe concentrations is feasible by means of 1H MRS. This approach constitutes a prerequisite for describing carrier kinetics in health.
Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study
Authors: Baehner F. , Kampmann C. , Whybra C. , Miebach E. , Wiethoff C. M. , Beck M.
Published: December 2003

Summary:Fabry disease is an X‐linked glycosphingolipid storage disorder caused by a deficiency of α‐galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X‐linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open‐label, single‐centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Agalsidase alfa was safe and well‐tolerated in female patients. None of the patients developed antibodies or experienced an infusion reaction to agalsidase alfa. The pharmacokinetic profile of agalsidase alfa in female patients is comparable to the pharmacokinetics of agalsidase alfa in male patients. Mean urine sediment and plasma Gb3 levels decreased from baseline at 13, 27 and 41 weeks. A significant decrease in left ventricular mass from baseline was seen at weeks 27 (p= 0.003) and 41 (p= 0.039), and a significant reduction in QRS durations was seen at week 27 (p= 0.007). Furthermore, there was a significant improvement in quality of life. Renal function did not deteriorate in these 15 female patients over the 13‐ to 41‐week period of observation. We conclude that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease.
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation
Authors: Gargus J. J. , Boyle K. , Bocian M. , Roe D. S. , Vianey‐Saban C. , Roe C. R.
Published: December 2003

Summary: The mitochondrial oxidative phosphorylation and fatty acid oxidation pathways have traditionally been considered independent major sources of cellular energy production; however, case reports of patients with specific enzymatic defects in either pathway have suggested the potential for a complex interference between the two. This study documents a new site of interference between the two pathways, a site in respiratory complex II capable of producing clinical signs of a block in fatty acid oxidation and reduced in vitro activity of acyl‐CoA dehydrogenases. The initial patient, and later her newborn sibling, had mildly dysmorphic features, lactic acidosis and a defect in mitochondrial respiratory complex II associated with many biochemical features of a block in fatty acid oxidation. Results of in vitro probing of intact fibroblasts from both patients with methyl[2H3]palmitate and L‐carnitine revealed greatly increased [2H3]butyrylcarnitine; however, the ratio of dehydrogenase activity with butyryl‐CoA with anti‐MCAD inactivating antibody (used to reveal SCAD‐specific activity) to that with octanoyl‐CoA was normal, excluding a selective SCAD or MCAD deficiency. Respiratory complex II was defective in both patients, with an absent thenoyltrifluoroacetone‐sensitive succinate Q reductase activity that was partially restored by supplementation with duroquinone. Although secondary, the block in fatty acid oxidation was a major management problem since attempts to provide essential fatty acids precipitated acidotic decompensations. This study reinforces the need to pursue broadly the primary genetic defect within these two pathways, making full use of increasingly available functional and molecular diagnostic tools.
Mutations in galactose‐1‐phosphate uridyltransferase gene in patients with idiopathic presenile cataract
Authors: Karas N. , Gobec L. , Pfeifer V. , Mlinar B. , Battelino T. , Lukac‐Bajalo J.
Published: December 2003

Summary: Impaired activity of the enzyme galactose‐1‐phosphate uridyltransferase (GALT) has been proposed as a risk factor for idiopathic presenile cataract. A study was undertaken to determine the prevalence of the three most common mutations in the GALT gene (Q188R, K285N and N314D, including its variant Duarte‐2) in a group of Slovenian patients with idiopathic presenile cataract. GALT activity was determined in the erythrocytes of 30 cataract patients. DNA was isolated from their blood and analysed for Q188R, K285N and N314D mutations and IVS5−24G>A intronic variation by means of polymerase chain reaction and digestion with restriction enzymes. The average GALT activity of the cataract group was 19.5±4.9 U/g Hb, which is lower than the normal range (p = 0.034). Frequencies of Q188R, K285N, N314D and Duarte‐2 alleles in the cataract group were 0.00%, 5.0%, 11.7% and 3.3%, respectively. Only the frequency of the K285N mutation was significantly higher in the patient group than in the control group (p = 0.0244). Our results support the reported association of decreased GALT activity with idiopathic presenile cataract. Molecular analysis indicates that, in the Slovenian population, this association is linked to the K285N mutation, which is neonatally benign in heterozygotes.
Short Report: Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation
Authors: Kimura M. , Fukui T. , Tagami Y. , Fujiwaki T. , Yokoyama M. , Ishioka C. , Kumasaka K. , Terada N. , Yamaguchi S.
Published: December 2003

We report findings in a Japanese boy with severe skin rash attributable to biotin deficiency. The patient had an intracranial malformation and developed biotin deficiency due to tube feeding with a single formula for over one year. Results of urinary organic acid analysis were consistent with multiple carboxylase deficiency, and low biotinidase activity was also observed. After biotin supplementation, the skin rash improved and biotinidase activity normalized. We speculate that biotin is one regulating factor in the biosynthesis of biotinidase.
Editorial
Authors: Sczesny Sabine
Published: December 2003

Gender and Careers: On the State of Research
The Rise of Female Leaders
Authors: Eagly Alice H.
Published: December 2003

Abstract: The pace of women's rise into high-level leadership roles is accelerating in many postindustrial societies. Although women still face some discrimination in attaining roles with substantial authority, prejudicial reactions appear to be decreasing. In terms of Eagly and Karau's (2002) role incongruity theory of prejudice toward female leaders, women's rise is accounted for by three factors: (a) a redefinition of the qualities required by many leadership roles to include androgynous and feminine attributes as well as masculine attributes, (b) masculine shifts in women whereby they have adopted agentic and other masculine attributes consistent with their labor force participation, and (c) women's favoring of competent, androgynous leadership styles that help finesse the still remaining incongruity between leader roles and the female gender role.
Führungskompetenz: Selbst- und Fremdwahrnehmung weiblicher und männlicher Führungskräfte
Authors: Sczesny Sabine
Published: December 2003

Zusammenfassung: Bisherige Forschung belegt konsistent, dass das soziale Image einer erfolgreichen Führungskraft eine höhere Korrelation mit der Beschreibung eines typischen Mannes als mit der einer typischen Frau aufweist. In der vorliegenden Studie wurde die Selbst- und Fremdwahrnehmung von personen- und aufgabenorientierten Führungsfähigkeiten aus der Sicht von 177 deutschen Führungskräften erfragt. Deren geschlechtsstereotype Fremdwahrnehmung von Führungskompetenz zeigt sich darin, dass Frauen im Vergleich zu Führungskräften im allgemeinen seltener aufgabenorientierte und häufiger personenorientierte Fähigkeiten zugeschrieben werden. Darüber hinaus wird weiblichen Führungskräften eine besonders ausgeprägte personenorientierte Führungskompetenz zugesprochen. Gleichzeitig wurde eine androgynere Sicht von Führung zum Ausdruck gebracht, indem kaum in der zugeschriebenen Wichtigkeit personen- und aufgabenorientierter Fähigkeiten für Frauen und Männer unterschieden wurde. Die weiblichen und männlichen Führungskräfte beschrieben sich hinsichtlich der beiden Arten von Führungsfähigkeiten in ähnlicher Weise als kompetent, weibliche Führungskräfte betonten die Bedeutung personenorientierter Fähigkeiten für ihre eigene Person.
Frauen unterschätzen sich: Selbstbeurteilungs-Biases in einer simulierten Bewerbungssituation
Authors: Sieverding Monika
Published: December 2003

Zusammenfassung: In einer im Labor simulierten Bewerbungssituation wurden leistungsbezogene Selbstbeurteilungen in Abhängigkeit von Geschlecht und Instrumentalität im Selbstkonzept untersucht. 74 Männer und Frauen absolvierten individuell einen schriftlichen Leistungstest, einen Vortrag zur Selbstdarstellung der beruflichen Qualifikation sowie ein standardisiertes Bewerbungsinterview. Vortrag und Bewerbungsinterview wurden videographiert. Frauen schätzten sich in allen Phasen des Versuchs als deutlich weniger erfolgreich ein. Im Vergleich zur erreichten Punktezahl im Leistungstest und zur Fremdbeurteilung eines Videoausschnittes aus dem Bewerbungsinterview lag bei Frauen eine eindeutige Selbstunterschätzung vor. Bei den Selbstbeurteilungen der Männer zeigte sich im Vergleich zum Leistungstest eine Selbstüberschätzung, im Vergleich zur Fremdbeurteilung eine realistische Selbsteinschätzung. Die Instrumentalität im Selbstkonzept war mit der Selbsteinschätzung als “erfolgreich” assoziiert, allerdings nur bei den männlichen Probanden.
Geschlecht, geschlechts- bezogenes Selbstkonzept und Berufserfolg
Authors: Abele Andrea E.
Published: December 2003

Zusammenfassung: Aus dem Modell des doppelten Einflusses von Geschlecht ( Abele, 2000a , 2002 ) werden Hypothesen zu Geschlecht, geschlechtsbezogenem Selbstkonzept und Berufserfolg abgeleitet und in einer prospektiven Längsschnittstudie (BELA-E) getestet. Hochschulabsolventinnen und -absolventen wurden direkt nach ihrem Examen zu ihrer Geschlechtsrollenorientierung (Instrumentalität und Expressivität) sowie zu ihren auf Geschlechtsrollen bezogenen Einstellungen und 18 Monate später zu ihrem bisherigen Berufserfolg (objektives und subjektives Maß) befragt. Hypothesenkonform sagte die Instrumentalität - nicht jedoch die Expressivität - den Berufserfolg voraus. Ebenfalls hypothesenkonform ist der objektive Berufserfolg von Frauen - und hierbei insbesondere von Müttern - unabhängig von Instrumentalität kleiner als der von Männern. Geschlechtsrolleneinstellungen haben keine Auswirkung auf Berufserfolg. Implikationen für das Modell, für die Berufslaufbahnforschung und für die Geschlechterpsychologie werden diskutiert.
Erscheinen “Karrierefrauen” weniger sozial kompetent als “Karrieremänner”?
Authors: Steffens Melanie C. , Mehl Bettina
Published: December 2003

Zusammenfassung: Studierende (N = 78) und Führungskräfte (N = 19) lasen eine Stellenbeschreibung für eine Position der mittleren Führungsebene, in der entweder auf stereotyp männliche Führungsqualitäten Wert gelegt wurde (“traditionell”) oder zusätzlich auf stereotyp weibliche Sozialkompetenz (“feminisiert”). Anschließend sollten sie fiktive Bewerberinnen und Bewerber auf der Basis eines Lebenslaufs sowie eines Anschreibens hinsichtlich ihrer Fachkompetenz, sozialen Kompetenz und Eignung einschätzen. Die Lebensläufe ließen auf Fachkompetenz, auf soziale Kompetenz oder auf beides schließen. Insgesamt wurde die Eignung von Bewerberinnen und Bewerbern, die sowohl ihre fachliche als auch ihre soziale Kompetenz betonten, am höchsten eingeschätzt. Die Sozialkompetenz der fachlich kompetenten Frauen wurde höher eingeschätzt als die der entsprechenden Männer. Einzelne Zusammenhänge der Bewerberbeurteilungen mit expliziten Einstellungen zur Gleichberechtigung und mit impliziten Geschlechterstereotypen, gemessen mit einem Implicit Association Test, wurden gefunden.
Der Einfluss von “Karrierefrauen” auf das Frauenstereotyp
Authors: Wänke Michaela , Bless Herbert , Wortberg Silja
Published: December 2003

Zusammenfassung: Basierend auf dem Inklusions-Exklusionsmodell ( Schwarz & Bless, 1992 ) wurde in einem Experiment der Einfluss einer beruflich erfolgreichen - und damit stereotyp-inkonsistenten Frau - auf die stereotype Beurteilung von Frauen im Allgemeinen untersucht. Das Beispiel einer stereotyp-inkonsistenten Frau reduzierte nur dann die stereotyp weibliche Beurteilung von Frauen, wenn zusätzliche Randbedingungen die Inklusion dieser “Abweichlerin” in die mentale Repräsentation der Kategorie der Frauen nahe legten. Legten die Randbedingungen dagegen eher eine Exklusion aus der mentalen Repräsentation der Kategorie der Frauen nahe, hatte die Darstellung der Abweichlerin keine Reduktion des Frauenstereotyps zur Folge. In einer dritten Versuchsbedingung wurden zunächst die Randbedingungen für eine Inklusion realisiert jedoch gleichzeitig die Verfügbarkeit der Subkategorie der “Karrierefrau” experimentell erhöht. Durch die Aktivierung der alternativen Subkategorie wurde eine Inklusion der Abweichlerin unterlaufen, und das Stereotyp wurde nicht vermindert.
Erklärungsmuster weiblicher und männlicher Spitzen-Manager zur Unterrepräsentanz von Frauen in Führungspositionen
Authors: Hannover Bettina , Kessels Ursula
Published: December 2003

Zusammenfassung: In qualitativen Interviews wurden subjektive Erklärungsmuster erhoben, die auf hoher Hierarchieebene tätige Managerinnen (n = 15) und Manager (n = 14) mit umfangreicher Führungserfahrung für die Unterrepräsentanz von Frauen in Führungspositionen haben. Die Ergebnisse zeigen, dass Frauen und Männer gleichermaßen solche Erklärungsmuster präferierten, die die jeweils eigene Geschlechtsgruppe entlasten: Frauen sahen die Diskriminierung durch männliche Vorgesetzte sowie ungünstige gesellschaftliche Rahmenbedingungen als bedeutsamer an als Männer, die ihrerseits die wesentliche Ursache in einem Mangel an fachlich einschlägig qualifizierten Frauen mit starkem Führungswillen sahen. Insbesondere die Erklärungsmuster der männlichen Befragten - aber teilweise auch die der weiblichen - können auf die von Eagly und Karau (2002) beschriebenen deskriptiven (d.h., Frauen wird weniger Führungskompetenz zugeschrieben als Männern) und injunktiven (d.h., Führungsverhalten wird negativer bewertet, wenn es von einer Frau statt von einem Mann gezeigt wird) Aspekte des Vorurteils gegenüber weiblichen Führungskräften zurückgeführt werden.