bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effects of HIV infection on age and cause of death for persons with hemophilia A in the United States
Authors: Chorba Terence L. , Holman Robert C. , Clarke Matthew J. , Evatt Bruce L. 
Published: August 2002

AbstractBecause of changes in factor replacement therapy and in treatment of human immunodeficiency virus (HIV) infection, we examined death record data for persons with hemophilia A in the United States to evaluate effects of HIV infection on age and causes of death. Multiple cause‐of‐death data from 1968 through 1998 were examined to assess death rates for persons with hemophilia A. ICD‐9 coded causes of death from 1979 through 1998 were examined to assess long‐term trends. From 1979 through 1998, 4,781 deaths among persons with hemophilia A were reported, of which 2,254 (47%) had HIV‐related disease listed as a cause of death. In the late 1980s, mortality among persons with hemophilia A increased markedly, and the age‐adjusted death rate peaked at 1.5 per 1,000,000 population in 1992. Median age at death decreased from 55 years in 1979–1982 to 40.5 years in 1987–1990, and increased to 46 years in 1995–1998. In the period 1995–1998, the median age of hemophilia A decedents with HIV‐related disease was 33 years, compared to 72 years for those without HIV‐related disease; the most frequently listed causes of death for those without HIV‐related disease were hemorrhagic and circulatory phenomena; the most frequently listed for those with HIV‐related disease were diseases of liver and the respiratory system. From 1995 to 1998, hemophilia A‐associated deaths decreased by 41%, with a 78% decrease among those who had HIV‐related disease. Although HIV infection has adversely effected mortality for persons with hemophilia A, the marked recent decrease in the death rate among persons with hemophilia A appears to reflect advances in care for those with HIV‐related disease and is consistent with a decline in HIV mortality observed in the general population. Am. J. Hematol. 66:229–240, 2001. Published 2001 Wiley‐Liss, Inc.
New methods and data sources for measuring economic consequences of workplace injuries
Authors: Reville Robert T. , Bhattacharya Jayanta , Sager Weinstein Lauren R. 
Published: August 2002

AbstractBackgroundEvaluation of programs and policies to reduce the incidence of workplace injuries require that the consequences of injury are estimated correctly. Because workplace injuries are complex events, the availability of data that reflects this complexity is the largest obstacle to this estimation.MethodsWe review the literature on the consequences of workplace injuries for both workers and employers, focusing on data sources, particularly linked administrative data from different public agencies. We also review other approaches to obtaining data to examine workplace injuries, including public‐use longitudinal survey data, primary data collection, and linked employee‐employer databases. We make suggestions for future research.ResultsRecent advances in the literature on the economic consequences of workplace injuries for workers have been driven to a great extent by the availability of new data sources. Much remains unexplored. We find longitudinal survey databases including the National Longitudinal Survey of Youth, and the Health and Retirement Survey, to be very promising though largely untapped sources of data on workplace injuries. We also find that linked employee‐employer databases are well suited for the study of consequences for employers.ConclusionsWe expect that new data sources should lead to rapid advances in our understanding of the economic consequences of workplace injuries for both workers and employers. Am. J. Ind. Med. 40:452–463, 2001. © 2001 Wiley‐Liss, Inc.
Genetic segregation analysis of recurrent, early‐onset major depression: Evidence for single major locus transmission
Authors: Maher Brion S. , Marazita Mary L. , Zubenko Wendy N. , Spiker Duane G. , Giles Donna E. , Kaplan Barry B. , Zubenko George S. 
Published: August 2002

AbstractCoordinated efforts are now underway to identify susceptibility genes for unipolar major depressive disorder (MDD) and related disorders. These studies have focused on recurrent, early‐onset MDD (RE‐MDD), thought to be the most familial form of this disorder. The goal of this study was to conduct a complex segregation analysis of recurrent MDD and other major mood disorders aggregating in families identified by probands with RE‐MDD. Eighty‐one families were identified through probands over the age of 18 who met criteria for recurrent (≥ 2 episodes), early‐onset (≤ 25 years), nonpsychotic, unipolar MDD (RE‐MDD) and included 407 first‐degree relatives and 835 extended relatives. Psychiatric diagnoses for probands and their family members who provided blood samples were formulated from structured personal interviews, structured family history assessments, and available medical records. The remaining family members who participated and those who were deceased were evaluated through the family history method augmented by available medical records. Best‐estimate diagnoses were made during a consensus conference according to established diagnostic criteria. Segregation analyses were performed using the REGD routine in S.A.G.E. release 4.0. The segregation analysis of recurrent MDD supported a sex‐independent Mendelian codominant model. Analysis of major mood disorders supported a sex‐independent Mendelian dominant model. Interestingly, inclusion of spousal residual correlations provided better fitting models for recurrent MDD but not the broader phenotype of major mood disorders. Unlike unipolar MDD, the lifetime prevalence of bipolar I disorder in this sample of families did not exceed the reported population prevalence [Zubenko et al., 2001]. Our results suggest that a major locus contributes to the expression of recurrent MDD and possibly other major mood disorders within families identified by probands with RE‐MDD. Due to the limitations of the segregation analysis model, our results cannot address whether the same major locus is segregating across families in our sample or whether multiple major loci are involved (genetic heterogeneity). The absence of aggregation of bipolar I disorder in these families strongly suggests that while the genetic determinants of unipolar and bipolar disorders may overlap, they are not identical. Our findings illustrate the advantage of employing families identified by probands with RE‐MDD in studies designed to detect susceptibility loci for unipolar MDD and related disorders. © 2002 Wiley‐Liss, Inc.
Search for common haplotypes on chromosome 22q in patients with schizophrenia or bipolar disorder from the Faroe Islands
Authors: Jorgensen T.H. , Børglum A.D. , Mors O. , Wang A.G. , Pinaud M. , Flint T.J. , Dahl H.A. , Vang M. , Kruse T.A. , Ewald H. 
Published: August 2002

AbstractChromosome 22q may harbor risk genes for schizophrenia and bipolar affective disorder. This is evidenced through genetic mapping studies, investigations of cytogenetic abnormalities, and direct examination of candidate genes. Patients with schizophrenia and bipolar affective disorder from the Faroe Islands were typed for 35 evenly distributed polymorphic markers on 22q in a search for shared risk genes in the two disorders. No single marker was strongly associated with either disease, but five two‐marker segments that cluster within two regions on the chromosome have haplotypes occurring with different frequencies in patients compared to controls. Two segments were of most interest when the results of the association tests were combined with the probabilities of identity by descent of single haplotypes. For bipolar patients, the strongest evidence for a candidate region harboring a risk gene was found at a segment of at least 1.1 cM including markers D22S1161 and D22S922 (P = 0.0081 in the test for association). Our results also support the a priori evidence of a susceptibility gene to schizophrenia at a segment of at least 0.45 cM including markers D22S279 and D22S276 (P = 0.0075). Patients were tested for the presence of a missense mutation in the WKL1 gene encoding a putative cation channel close to segment D22S1161–D22S922, which has been associated with schizophrenia. We did not find this mutation in schizophrenic or bipolar patients or the controls from the Faroe Islands. © 2002 Wiley‐Liss, Inc.
Glypican 1 gene: Good candidate for brachydactyly type E
Authors: Syrrou Maria , Keymolen Katelÿne , Devriendt Koen , Holvoet Maureen , Thoelen Reinhilde , Verhofstadt K. , Fryns Jean‐Pierre 
Published: August 2002

AbstractIn this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E. © 2002 Wiley‐Liss, Inc.
Examining for association between candidate gene polymorphisms in the dopamine pathway and attention‐deficit hyperactivity disorder: A family‐based study
Authors: Payton Antony , Holmes Jane , Barrett Jennifer H. , Hever Tracey , Fitzpatrick Helen , Trumper Anne L. , Harrington Richard , McGuffin Peter , O'Donovan Michael , Owen Michael , Ollier William , Worthington Jane , Thapar Anita 
Published: August 2002

AbstractAttention‐deficit hyperactivity disorder (ADHD) is a highly heritable childhood‐onset psychiatric condition characterized by developmentally inappropriate inattention, hyperactivity, and impulsiveness. The pathophysiology of ADHD is currently unknown. However, the therapeutic effects of stimulant medication together with findings from animal and neuroimaging studies as well as from several molecular genetic studies of the dopamine receptor D4 gene and dopamine transporter gene have implicated involvement of the dopaminergic system. To test the dopaminergic hypothesis further, we have looked for association between ADHD and alleles of seven dopamine‐related candidate genes using a family‐based association approach in a sample of 150 children diagnosed with ADHD. We tested polymorphisms in genes encoding three dopamine receptors (DRD3, DRD4, and DRD5) and four dopamine‐relevant enzymes: tyrosine hydroxylase [tyrosine hydroxylase (TH)], dopamine beta hydroxylase (DβH), catechol‐O‐methyltransferase (COMT), and monoamine oxidase A (MAOA). We were unable to detect a significant association with any of the polymorphisms genotyped, although there was a trend for preferential transmission of the DRD5 148 bp marker allele and the MAOA 122 bp marker allele. We conclude that none of the alleles we have tested makes a major contribution to ADHD, although much larger samples are required to exclude small effects. © 2001 Wiley‐Liss, Inc.
Tryptophan hydroxylase gene variant and smoking behavior
Authors: Lerman Caryn , Caporaso Neil E. , Bush Angelita , Zheng Yun‐Ling , Audrain Janet , Main David , Shields Peter G. 
Published: August 2002

AbstractApproximately 50% of the variance in smoking behavior is attributable to genetic factors. Genes in the serotonin system are plausible candidates because of serotonin's role in mood regulation. The present study examined the association of smoking behavior with a polymorphism in the TPH gene, which codes for a rate limiting enzyme in the biosynthesis of serotonin. A polymorphism in intron 7 has been linked with a variety of traits involving poor impulse control. Participants in this study were 249 Caucasian smokers and 202 nonsmokers recruited through newspaper advertisements. Smokers completed smoking history and nicotine dependence assessments. The overall frequencies of the A‐ and C‐allele were 42% and 58%, respectively. There was no association of TPH alleles with smoking status. However, case series analysis indicated that individuals with the A/A genotype started smoking at age 15.6 years, compared with 17.3 years among smokers with other genotypes. This association was significant in a multivariate regression model controlling for age, education, body mass index (BMI), alcohol use, and medication use. This finding is consistent with previous studies relating the A‐allele to impulsive behavior and suggests that it may predispose to early smoking initiation. Future family‐based studies are needed to confirm this finding. Published 2001 Wiley‐Liss, Inc.
Mantled howler population of Hacienda La Pacifica, Costa Rica, between 1991 and 1998: Effects of deforestation
Authors: Clarke Margaret R. , Crockett Carolyn M. , Zucker Evan L. , Zaldivar Maria 
Published: August 2002

AbstractA survey of the mantled howler (Alouatta palliata) population on Hacienda La Pacifica, Guanacaste, Costa Rica, was done in July and August of 1998 to determine population parameters following deforestation due to major canal construction between 1990 and 1994. The survey was carried out in a manner identical to our 1991 survey and consisted of a single pass and two re‐surveys of all forested areas of the farm. As canal construction effectively increased fragmentation of the habitat, we predicted decreased population and group size over this time. Results indicated that between the 1991 and 1998 survey, group size decreased but not significantly, and there were significantly fewer adult males and adult females per group. Population size, however, remained unchanged as there was an increase in animals in the immature age classes. An increase in the infant to adult female ratio suggests a stable or even expanding population, which could represent recovery from the initial disturbance of deforestation. Thus, despite changes in the forest and land use patterns, the area now appears to support the same number of howlers as found in previous surveys. Am. J. Primatol. 56:155–163, 2002. © 2002 Wiley‐Liss, Inc.
Statistical genetic comparison of two techniques for assessing molar crown size in pedigreed baboons
Authors: Hlusko Leslea J. , Weiss Kenneth M. , Mahaney Michael C. 
Published: August 2002

AbstractDental anthropologists and paleoanthropologists commonly use an estimated molar crown area (mesiodistal length multiplied by buccolingual width) to describe and compare individuals, populations, and species. Advances in digital imaging now allow researchers to measure the actual crown area of a molar in an occlusal two‐dimensional plane. Because error is reduced by this more accurate measurement, actual crown area is thought to be a better representation of the mechanisms that determine tooth crown size, meriting the additional time required to collect it. We tested this assumption by estimating the heritability of both these measurements for the second left mandibular molar from a sample of individuals (n = 332) from a captive breeding colony of baboons.Heritability estimates of both the actual and estimated crown areas of molars are approximately 0.83. Therefore, both measurements are informative as population descriptors, with no significant difference between the accuracy of either to reflect additive genetic contributions to molar crown size. This is fortunate, because genetic studies and inference can be based on estimated areas rather than actual crown area.The heritability estimates for mesiodistal length and buccolingual width are both substantial but lower: ∼0.67 and ∼0.73, respectively. The best fitting models in these analyses show that sex, body size, and subspecific affinity differentially affect molar length and width. We interpret these results to suggest that potentially some of the genetics underlying these covariates also underlie tooth size. As such, measurements designed to describe molar crown size are useful for general descriptive purposes, but do not conform to the assumption of independence inherent in phylogenetic analyses, such as cladistics (Hennig [1966] Phylogenetic Systematics. Urbana: University of Illinois Press). Therefore, if variables like actual crown area and estimated crown area are to be used in phylogenetic parsimony analyses, we suggest that researchers account for the effects of covariates such as sex and body size in their analyses. Am J Phys Anthropol 117:182–189, 2002. © 2002 Wiley‐Liss, Inc.
Mechanical energy oscillations of two brachiation gaits: Measurement and simulation
Authors: Bertram John E.A. , Chang Young‐Hui 
Published: August 2002

AbstractHow do arm‐swinging apes locomote effectively over a variety of speeds? One way to reduce the metabolic energy cost of locomotion is to transfer energy between reversible mechanical modes. In terrestrial animals, at least two transfer mechanisms have been identified: 1) a pendulum‐like mechanism for walking, with exchange between gravitational potential energy and translational kinetic energy, and 2) a spring‐like mechanism for running, where the elastic strain energy of stretched muscle and tendon is largely returned to reaccelerate the animal. At slower speeds, a brachiator will always have at least one limb in contact with the support, similar to the overlap of foot contact in bipedal walking. At faster speeds, brachiators exhibit an aerial phase, similar to that seen in bipedal running. Are there two distinct brachiation gaits even though the animal appears to simply swing beneath its overhead support? If so, are different exchange mechanisms employed? Our kinetic analysis of brachiation in a white‐handed gibbon (Hylobates lar) indicates that brachiation is indeed comprised of two mechanically distinct gaits. At slower speeds in “continuous contact” brachiation, the gibbon utilizes a simple pendulum‐like transfer of mechanical energy within each stride. At faster speeds in “ricochetal” brachiation, translational and rotational kinetic energy are exchanged in a novel “whip‐like” transfer. We propose that brachiators utilize the transfer between translational and rotational kinetic energy to control the dynamics of their swing. This maneuver may allow muscle action at the shoulder to control the transfer and adjust the ballistic portion of the step to meet the requirements for the next hand contact. Am J Phys Anthropol 115:319–326, 2001. © 2001 Wiley‐Liss, Inc.
The WldS protein protects against axonal degeneration: A model of gene therapy for peripheral neuropathy
Authors: Wang Min Sheng , Fang Guofu , Culver Deborah G. , Davis Albert A. , Rich Mark M. , Glass Jonathan D. 
Published: August 2002

AbstractThe WldS mouse is a spontaneous mutant that is characterized by the phenotype of delayed degeneration of transected nerves (slow Wallerian degeneration). Molecular genetic analysis identified a mutation in this animal that codes for a unique protein expressed in brain tissue of WldS mice. We asked whether the WldS phenotype, in addition to delaying axonal degeneration after axotomy, might provide neuroprotection against toxic neuropathy. In dorsal root ganglia (DRG) cultures, neurites from WldS transiently exposed to vincristine not only resisted axonal degeneration but resumed growth after withdrawal of the toxin. Neurites from wild type mice died rapidly and did not recover. To prove that the identified mutation and its protein product are responsible for the WldS phenotype, we used an adenoviral gene transfer system to deliver the WldS to rat DRG neurons. Rat neurons expressing the WldS protein were resistant to vincristine‐induced axonal degeneration, confirming the functional significance of the identified gene mutation. These data provide evidence that the WldS protein can be neuroprotective against vincristine neuropathy, and possibly other disorders characterized by axonal degeneration. In addition, delivery of this gene to wild type cells can transfer the WldS phenotype, providing the possibility of “gene therapy” for peripheral neuropathy.
So near yet so far: Neglect in far or near space depends on tool use
Authors: Pegna Alan J. , Petit Leila , Caldara‐Schnetzer Anne‐Sarah , Khateb Asaid , Annoni Jean‐Marie , Sztajzel Roman , Landis Theodor 
Published: August 2002

AbstractThe study of unilateral spatial neglect has shown that space can be dissociated on a peripersonal versus extrapersonal basis. We report a novel type of dissociation based on tool use in a patient suffering from left neglect. Line bisection was carried out in near and far space, using a stick and a laser pointer. A rightward bias was always found for the former, but not for the latter. Neglect thus appears to be contingent not only on distance, but also on the motor action required by the task.
Role of Caspase‐1 in experimental pneumococcal meningitis: Evidence from pharmacologic Caspase inhibition and Caspase‐1‐deficient mice
Authors: Koedel Uwe , Winkler Frank , Angele Barbara , Fontana Adriano , Flavell Richard A. , Pfister Hans‐Walter 
Published: August 2002

AbstractCaspase 1 plays a pivotal role in generating mature cytokine interleukin‐1β. Interleukin‐1β is implicated as a mediator of pneumococcal meningitis, both in experimental models and in humans. We demonstrated here that (1) Caspase 1 mRNA and protein expression is upregulated in the brain during experimental pneumococcal meningitis, and (2) Caspase 1 levels are elevated in the cerebrospinal fluid of patients with acute bacterial meningitis. The upregulation/activation of Caspase 1 was associated with increased levels of interleukin‐1β. Depletion of the Caspase 1 gene and pharmacologic blockade of Caspase 1 significantly attenuated the meningitis‐induced increase in interleukin‐1β. This was paralleled by a significantly diminished inflammatory host response to pneumococci. The antiinflammatory effect of Caspase 1 depletion or blockade was associated with a marked reduction of meningitis‐induced intracranial complications, thus leading to an improved clinical status. In humans, cerebrospinal fluid Caspase 1 levels correlated with the clinical outcome. Thus, pharmacologic inhibition may provide an efficient adjuvant therapeutic strategy in this disease.
Brain white matter anatomy of tumor patients evaluated with diffusion tensor imaging
Authors: Mori Susumu , Frederiksen Kim , van Zijl Peter C. M. , Stieltjes Bram , Kraut Michael A. , Solaiyappan Meiyappan , Pomper Martin G. 
Published: August 2002

AbstractWe applied multislice, whole‐brain diffusion tensor imaging (DTI) to two patients with anaplastic astrocytoma. Data were analyzed using DTI‐based, color‐coded images and a 3‐D tract reconstruction technique for the study of altered white matter anatomy. Each tumor was near two major white matter tracts, namely, the superior longitudinal fasciculus and the corona radiata. Those tracts were identified using the color‐coded maps, and spatial relationships with the tumors were characterized. In one patient the tumor displaced adjacent white matter tracts, whereas in the other it infiltrated the superior longitudinal fasciclus without displacement of white matter. DTI provides new information regarding the detailed relationship between tumor growth and nearby white matter tracts, which may be useful for preoperative planning.
Thrombolysis induces cerebral hemorrhage in a mouse model of cerebral amyloid angiopathy
Authors: Winkler David T. , Biedermann Luc , Tolnay Markus , Allegrini Peter R. , Staufenbiel Matthias , Wiessner Christoph , Jucker Mathias 
Published: August 2002

AbstractWe studied the impact of cerebral amyloid angiopathy on tissue plasminogen activator‐induced cerebral hemorrhages in APP23 transgenic mice. Results show that the intravenous administration of tissue plasminogen activator in APP23 mice leads to an increase in cerebral amyloid angiopathy‐associated microhemorrhages and can provoke parenchymal and subarachnoidal hematomas. We conclude that cerebral amyloid angiopathy is a risk factor for cerebral hemorrhage caused by tissue plasminogen activator administration in mice and stress the need for more comprehensive studies of the relation between cerebral amyloid angiopathy and tissue plasminogen activator‐induced cerebral hemorrhages in elderly and Alzheimer's disease patients.