bluuebunny/crossref_metadata_2025_split huggingface dataset:
Natural history of Fabry disease in males: preliminary observations
Authors: Schiffmann R. 
Published: December 2002

AbstractA large cohort of patients with Fabry disease is being studied to determine the natural history of the disease and how this relates to the specific mutation involved and the amount of residual α‐galactosidase A activity. To date, we have investigated the progression of cerebral lesions and stroke, as identified by magnetic resonance imaging, and renal disease. Results have shown that cerebral lesions do not appear until 23 years of age, but are present in all patients by55 years of age. The peak onset of proteinuria occurred in the fourth decade, and the peak onset of chronic renal insufficiency and end‐stage renal disease occurred in the fifth decade of life. Renal outcome was related to the type of mutation and residual enzyme activity. Data from these studies in untreated patients will be important when assessing the long‐term efficacy of enzyme replacement therapy.
Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings
Authors: Dotti M. T. , Rufa A. , Federico A. 
Published: December 2002

AbstractCerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease involving lipid metabolism. The classical phenotype is characterized by neurological dysfunction, tendon xanthomas and juvenile cataracts. Other ophthalmological findings have occasionally been reported. To gain more insight into the type and frequency of ophthalmological alterations in this multisystem metabolic disorder, we examined 13 CTX patients. Besides cataracts, found in all cases, the second most frequent ocular abnormality was paleness of the optic disk, which was found in 6 patients and was probably previously underestimated. Signs of premature retinal senescence were also observed. We discuss the possible relation between these ocular manifestations and the metabolic defect.
Does everyone have a name? Psychological distress and quality of life among child Holocaust survivors with lost identity
Authors: Amir Marianne , Lev‐Wiesel Rachel 
Published: December 2002

AbstractKnowing one's identity, name, and biological parents is considered essential to personality development and psychological well‐being. This study assessed post‐traumatic stress disorder (PTSD) symptoms, subjective quality of life (QoL), psychological distress, and potency in a group of adults who were children during the Holocaust (child Holocaust survivors) and who did not know their true identity. Twenty‐three such survivors were compared to 23 child Holocaust survivors who knew their identity. Results showed that survivors with lost identity had lower physical, psychological, and social QoL and higher somatization, depression, and anxiety scores than did survivors with known identity. The findings suggest that the psychological consequences of not knowing one's identity are long‐lasting.
Rape and physical violence: Comparison of assault characteristics in older and younger adults in the national women's study
Authors: Acierno Ron , Gray Matt , Best Connie , Resnick Heidi , Kilpatrick  , Saunders Ben , Brady Kristine 
Published: December 2002

AbstractThis study compared characteristics of recently occurring assaults against younger adults (age 18–34 years) with those of distant‐past assaults against older adults (age 55–89 years) when they were younger. Responses of a subset of participants in the National Women's Study were the source of data for this study. With the exception of perceived life threat during assault (more prevalent in younger women), assault characteristics did not vary greatly by age in terms of proportions reporting that they had seen the perpetrator before; the event was one in a series; they or the perpetrator were under the influence of a substance; they actually experienced injury; and they reported the assault to authorities. Consistent with previous research, younger women reported greater prevalences of assault than older women.
Protein Structures and Information Extraction from Biological
Texts: The PASTA System
Authors: Gaizauskas R. , Demetriou G. , Artymiuk P. J. , Willett P. 
Published: December 2002

Abstract
Motivation: The rapid increase in volume of protein structure literature means useful information may be hidden or lost in the published literature and the process of finding relevant material, sometimes the rate-determining factor in new research, may be arduous and slow.
Results: We describe the Protein Active Site Template Acquisition (PASTA) system, which addresses these problems by performing automatic extraction of information relating to the roles of specific amino acid residues in protein molecules from online scientific articles and abstracts. Both the terminology recognition and extraction capabilities of the system have been extensively evaluated against manually annotated data and the results compare favourably with state-of-the-art results obtained in less challenging domains. PASTA is the first information extraction (IE) system developed for the protein structure domain and one of the most thoroughly evaluated IE system operating on biological scientific text to date.
Availability: PASTA makes its extraction results available via a browser-based front end: http://www.dcs.shef.ac.uk/nlp/pasta/. The evaluation resources (manually annotated corpora) are also available through the website: http://www.dcs.shef.ac.uk/nlp/pasta/results.html.
Contact: r.gaizauskas@dcs.shef.ac.ukg.demetriou@dcs.shef.ac.ukp.artymiuk@shef.ac.ukp.willett@shef.ac.uk
* To whom correspondence should be addressed.
Genetic Power Calculator: design of linkage and
association genetic mapping studies of complex traits
Authors: Purcell S. , Cherny S. S. , Sham P. C. 
Published: December 2002

Abstract
Summary: A website for performing power calculations for the design of linkage and association genetic mapping studies of complex traits.
Availability: The package is made available athttp://statgen.iop.kcl.ac.uk/gpc/
Contact: s.purcell@iop.kcl.ac.uk
* To whom correspondence should be addressed.
Disappointment aversion equilibrium in a futures market
Authors: Lien Donald , Wang Yaqin 
Published: December 2002

AbstractThis article examines the effect of disappointment aversion on the equilibrium in a commodity futures market.
Consider a commodity market with a producer and a speculator. We show that the equilibrium price is positively
related to either agent's risk or disappointment aversion, and to the market volatility. The market trading
volume is positively related to the producer's risk or disappointment aversion, but negatively related to
the speculator's risk or disappointment aversion. The producer lowers his or her reference point in
response to an increase in the risk aversion or disappointment aversion of either agent, and to an increase in
spot price volatility. The speculator raises his or her reference point when the producer becomes more risk
averse or disappointment averse, or when the spot price becomes more volatile. A more
disappointment‐averse speculator will lower his or her reference point. However, a more
risk‐averse speculator raises (lowers) the reference point if he or she is less
(more) risk averse than the producer. Numerical examples are provided to further support the above
analytical results. © 2003 Wiley Periodicals, Inc. Jrl Fut Mark 23:135–150, 2003
Permanence and global attractivity for facultative mutualism system with delay
Authors: Mukherjee Debasis 
Published: December 2002

AbstractIn this paper, we consider a facultative mutualism system with different delays. Sufficient criteria for permanence and global attractivity for the system are established. Ultimate uniform boundedness of the solutions ensures permanence. For the global attractivity of the system, magnitude of the delays plays a major role. Copyright © 2003 John Wiley & Sons, Ltd.
Description of the metal–ligand bonding in f‐element complexes: A DFT study including scalar relativistic effects
Authors: Vetere Valentina , Maldivi Pascale , Adamo Carlo 
Published: December 2002

AbstractA comparative density functional study on metal–ligand (M–L) interaction has been performed on X3–M–L (X = F, I; M = U, La, Nd: L = NH3, NCCH3, CO) and X3–M–(CO)2species including scalar relativistic effects by means of the zero‐order regular approximation (ZORA) hamiltonian. The role of the halogen atoms in modeling the M–L interactions is discussed for π‐acceptor ligands CO and NCCH3and for the σ‐donor NH3. The fluoride counterions, compared with previous calculations on the iodide complexes, stabilize more tedraedral structure with longer M–L distances. Finally, the addition of a second ligand to the previous species has permitted a more complete discussion on the backbonding effects on the uranium complexes. © 2002 Wiley Periodicals, Inc. Int J Quantum Chem, 2003
The Future of Community Coalition Building
Authors: Wolff Thomas 
Published: December 2002

AbstractThe future holds great promise for community coalitions as powerful interventions for community change. Community change is envisioned as: working with whole communities; increasing grassroots and civic engagement; promoting diversity, collaboration and, advocacy; increasing roles for professional technical assistance and evaluation; future changes in the role of government; and the building of healthy communities. Examples of these dimensions follow, as contributed by activists from a wide range of fields.
Perceptions of Parenting: Individual Differences and the Effect of Community
Authors: Caughy Margaret O'Brien , Brodsky Anne E. , O'Campo Patricia J. , Aronson Robert 
Published: December 2002

AbstractNeighborhood norms are an important determinant of beliefs and attitudes about parenting, and measuring changes in community norms is an important component of evaluating community‐based programs for improving child outcomes. The purpose of this study was to determine whether or not a survey of community residents' perceptions of parenting could be used to measure community parenting norms and whether these perceptions differed by individual or community characteristics. Two community surveys with 870 and 914 respondents, respectively, were conducted in 3 low‐income neighborhoods. Results indicated that perceptions of parenting could be measured reliably at the community level although it is important to consider the presence of multiple norms when using such measures. Furthermore, differences in perceptions of parenting associated with individual characteristics were markedly decreased when neighborhood characteristics were considered, suggesting that the association of individual characteristics with perceptions of parenting is confounded by neighborhood characteristics.
Oxidation of galactose by galactose‐1‐phosphate uridyltransferase‐deficient lymphoblasts
Authors: Yager C. , Gibson J. , States B. , Elsas L. J. , Segal S. 
Published: December 2002

AbstractThe ability of EB virus‐transformed lymphoblasts with undetectable galactose‐1‐phosphate uridyltransferase (GALT) from 15 galactosaemic patients to oxidize [1‐14C]galactose to 14CO2 was compared to that of cells from 7 normal subjects. The oxidation of galactose but not of glucose was markedly diminished by cells from Q188R homozygous galactosaemic patients but was not absent. After 2.5 h these cells liberated 14CO2 at nearly 3% and at 5 h up to 9% of normal. Cells from patients homozygous for the S135L mutation produced much larger amounts of 14CO2 (15–17% of normal) and were distinguishable from the Q188R homozygous cells. A cell line with a homozygous deletion of the GALT gene oxidized galactose at 7% of the normal rate, suggesting that pathways(s) other than GALT exist in these cells as well as Q188R homozygous cells for oxidation of galactose to CO2. Concentration dependence studies are consistent with the presence of a pathway that is unsaturable or has a very high Km. The ability of 107 lymphoblasts with the S135L genotype to oxidize more than 7% of the sugar to 14CO2 in 5 h suggests the presence of residual GALT despite the inability to detect the activity by enzymatic analysis.
A splice mutation in the GTP cyclohydrolase I gene causes dopa‐responsive dystonia by exon skipping
Authors: Skrygan M. , Bartholomé B. , Bonafé L. , Blau N. , Bartholomé K. 
Published: December 2002

AbstractFour different mutations in the GTP cyclohydrolase I gene were found (P199L, M211V, IVS5+1G>A, G203R) in 6 out of 33 families with dopa‐responsive dystonia. A splice mutation (IVS5+1G>A) located at the border of exon 5 to intron 5 was found in one of these families. Three members of the family carry the IVS5+1G>A mutation on one allele, inherited from the father to the daughter and son. Examination of the mRNA showed an exon 5 skipping that results in a reduction of enzyme activity in cultured fibroblasts to 4–17% compared to controls. The father and daughter never had clinical symptoms of dopa‐responsive dystonia. The son was symptomatic at the age of 3 years and was treated successfully with L‐dopa/carbidopa. After 20 years this therapy was terminated and for the next 6 years he was free of symptoms. With increased motoric activity, symptoms reappeared and the therapy was reintroduced.
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications
Authors: Van Geet C. , Jaeken J. , Freson K. , Lenaerts T. , Arnout J. , Vermylen J. , Hoylaerts M. F. 
Published: December 2002

AbstractCongenital disorders of glycosylation (CDG) type I are mostly due to a deficient phosphomannomutase activity, called CDG Ia. CDG IIa (mutations in the MGAT2 gene) results from a deficient activity of the Golgi enzyme N‐acetylglucosaminyltransferase II. CDG Ia patients predominantly have a thrombotic tendency, whereas our CDG IIa patient has an increased bleeding tendency, despite similar coagulation factor abnormalities in both types. We have investigated whether abnormally glycosylated platelet membrane glycoproteins are involved in the haemostatic complications of both CDG groups. In flow cytometry, the binding of Ricinus communis lectin (reactive with β‐galactose primarily) to control platelets increased after neuraminidase treatment: this increase was smaller (p < 0.01) in CDG Ia patients (3.1 ± 0.08 times) than in control platelets (8.5 ± 1.8 times) and did not occur in the CDG IIa patient. Platelet‐rich plasma from CDG Ia patients, but not a CDG IIa patient, aggregated spontaneously and gel‐filtered platelets from CDG Ia patients agglutinated at very low concentrations of ristocetin, independently of von Willebrand factor (vWF). Accordingly, in stirred whole blood, the rate of single platelet disappearance of CDG Ia patients was twice that of control platelets. In contrast, perfusion of whole anticoagulated blood of the CDG IIa patient over collagen yielded markedly decreased platelet adherence to collagen at shear rates involving glycoprotein (GP) Ib–vWF interactions. Thus, abnormal glycosylation of platelet glycoproteins in CDG Ia enhances nonspecific platelet interactions, in agreement with a thrombotic tendency. The reduced GP Ib‐mediated platelet reactivity with vessel wall components in the CDG IIa patient under flow conditions provides a basis for his bleeding tendency.
The effect of relocation after a natural disaster
Authors: Najarian Louis M. , Goenjian Armen K. , Pelcovitz David , Mandel Francine , Najarian Berj 
Published: December 2002

AbstractTwenty‐five women remaining in a city devastated by an earthquake were compared with 24 relocated survivors and 25 comparison women. The women were administered a structured PTSD interview, the Hamilton Depression Scale, and SCL‐90‐R. The women in both exposed groups showed significantly more symptoms of avoidance, arousal, and total PTSD than the comparison group. The women in the relocated city had significantly higher depression scores than the women in the earthquake city. On the SCL‐90‐R, relocated women were most symptomatic and comparison group women were least symptomatic. Relocation after a disaster appears to be associated more with risk for depression than with PTSD in situations where recovery is delayed following the trauma.
Open trial of nefazodone for combat veterans with posttraumatic stress disorder
Authors: Garfield David A. S. , Fichtner Christopher G. , Leveroni Catherine , Mahableshwarkar Atul 
Published: December 2002

AbstractFourteen combat veterans completed a 9‐week open trial of nefazodone for treatment of posttraumatic stress disorder (PTSD). Overall PTSD symptoms as measured by the Clinician‐Administered PTSD Scale (CAPS) showed a modest but statistically significant decrease with nefazodone treatment. Decreases in CAPS reexperiencing and avoidance, but not hyperarousal symptoms, approached statistical significance. Anxiety decreased significantly, and there were trends toward decreased depression and anger on structured assessments. This study adds to the clinical evidence that nefazodone may be helpful for the management of PTSD symptoms.
The Changing Face of Disability Legislation, Policy and Practice in Ireland
Authors: Lundström Francesca , McAnaney Donal , Webster Beverley 
Published: December 2002

In the early 1990s, disability legislation, policy and provision in Ireland experienced seismic changes. These were brought about by international influences and by a concerted effort on the part of the centre-left government in office at that time. A ‘bottom-up’ approach was applied in order to uncover the experiences and identify the needs of people with disabilities throughout the country. Emanating from this, a Report published by the Commission on the Status of People with Disabilities in 1995 made 402 recommendations in 22 target areas based on the UN Standard Rules. An evaluation of the impact of this report in 1999 revealed that almost 75 per cent of the recommendations have been or are in the process of being implemented. However, these changes have as yet all taken place at the macro level, and their impact at the micro level – on the lives of people with disabilities – particularly relative to employment has so far been negligible. It may be that the changes made at the macro level are only aspirational, and that more intervention is required to make a difference at the micro level. Alternatively, it may simply be that more time is needed for the changes to filter down to the micro level. Only time will tell.
Examination of predictors of severe violence in combat‐exposed Vietnam veterans
Authors: Nock Matthew K. , Kaufman Joan , Rosenheck Robert A. 
Published: December 2002

AbstractThis study examined several proposed predictors of severe wartime violence in a randomly selected, nationally representative sample of 1,125 Vietnam veterans. Participation in severe acts of violence during wartime was reported by 7.6% of the sample. Disruptive behavior before the age of 15 and increased combat exposure were both significant predictors of severe wartime violence. Childhood contextual factors were indirectly related to severe wartime violence via prewar disruptive behavior. The classification rate of perpetrators of severe violence was comparable to rates from studies of less severe forms of violence. The implications of these results and suggestions for future research in this area are discussed.
XdomView: protein domain and exon position visualization
Authors: Vivek Gopalan , Tan Tin Wee , Ranganathan Shoba 
Published: December 2002

Abstract
Summary: The relationship between intron distribution in the eukaryotic gene and protein structural elements is essential for understanding the origin and evolution of genes. XdomView is a web-based viewer mapping protein structural domains and intron positions in eukaryotic homologues to its tertiary structure. The association of sequence signals to 3D structure in XdomView provides a valuable visualization environment for eukaryotic gene organization, gene evolution, protein folding and protein structure classification.
Availability: Freely available from http://surya.bic.nus.edu.sg/xdom
Contact: shoba@bic.nus.edu.sg
* To whom correspondence should be addressed.
The role of depressive symptoms in recovery from injuries to the extremities in older persons. A prospective study
Authors: Kempen Gertrudis I. J. M. , Sanderman Robbert , Scaf‐Klomp Winnie , Ormel Johan 
Published: December 2002

AbstractBackgroundPrevious research suggested that depressive symptoms play a role in recovery after hip fracture. However none of these studies were prospective and included only patients with hip fractures.ObjectiveTo examine the effect of depressive symptoms on the recovery of (instrumental) activities of daily living after fall‐related injuries to the extremities in older persons.DesignProspective cohort study.MethodsData were collected from 168 older persons at baseline, prior to their injuries (hip fractures, other fractures or contortions and dislocations), and 8 weeks, 5 months and 12 months after their accident. Hierarchical multiple regression analysis was used to study the impact of depressive symptoms (as assessed with the Hospital Anxiety and Depression Scale; HADS) on disability (as assessed with the Groningen Activity Restriction Scale; GARS) after the injury while adjusting for several covariates.ResultsDepressive symptoms at baseline were not predictive for disability after the injury when covariates were taken into account. However, depressive symptoms 8 weeks after the fall were significantly related to disability at 8 weeks, 5 months and even 12 months after the injury. In addition, disability levels before the injury were highly predictive for recovery later on. Severity of injury was particularly predictive for disability at 8 weeks while age (which may generally represent the amount of physiological reserve) predicted disability at 5 and 12 months after the injury. Cognitive functioning 8 weeks post‐injury was, in contrast to previous research, not predictive for recovery when covariates were taken into account.ConclusionsPre‐injury levels of disability and post‐injury depressive symptoms are associated with recovery and may warrant concern and special attention in clinical practice. Copyright © 2002 John Wiley & Sons, Ltd.
Ethics and dementia: mapping the literature by bibliometric analysis
Authors: Baldwin Clive , Hughes Julian , Hope Tony , Jacoby Robin , Ziebland Sue 
Published: December 2002

AbstractObjectivesThis paper reports on a bibliometric analysis of keywords in the literature on ethics and dementia during the period 1980–2000.MethodsKeywords were drawn from titles, abstracts and keyword fields of 14 bibliographic databases and clustered in to 19 categories. These categories were then examined for their frequency and co‐occurrences. The strength of relationships between these categories is mapped using the metaphor of the ‘night sky’ showing constellations of issues and changes over time.ResultsFour categories appear consistently and frequently in the literature: professional care, end‐of‐life issues, decision‐making and treatment. Other issues come and go (such as quality‐of‐life issues) while others appear to respond to outside events (e.g. feeding issues). The research literature is based predominantly on surveys or studies soliciting responses to predefined issues. Little research has been undertaken to establish the range of ethical issues for either family members or professionals.DiscussionWe discuss the domination of the literature by four categories of ethical issues, the new and emerging areas of ethical interest and those areas that are triggered by external events such as legal cases. We also discuss some of the limitations of the study and note some omissions in the literature.ConclusionDuring the period 1980–2000 the research literature has been dominated by surveys and studies soliciting views on predefined issues with relatively few in‐depth, open‐ended qualitative studies. Copyright © 2002 John Wiley & Sons, Ltd.