bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare recurring balanced chromosome abnormalities in therapy‐related myelodysplastic syndromes and acute leukemia: Report from an International Workshop†
Authors: Block AnneMarie W. , Carroll Andrew J. , Hagemeijer Anne , Lucienne Michaux  , van Lom Kirsten , Olney Harold J. , Baer Maria R. 
Published: August 2002

AbstractSeventy‐seven patients were identified with Rare recurring (excluding 11q23, 21q22, inv(16), and t(15;17)) chromosome abnormalities among 511 patients with treatment‐related myelodysplastic syndromes and acute leukemia accepted from centers in the United States, Europe, and Japan. The abnormality subsets included 3q21q26 (17 patients), 11p15 (17 patients), t(9;22)(q34;q11) (10 patients), 12p13 (9 patients), t(8;16)(p11;p13) (9 patients), and an “other” subset, which included t(6;9)(p23;q34) (3 patients), t(10;11)(p13;q13∼q21) (3 patients), t(1;17)(p36;q21) (2 patients), t(8;14)(q24;q32) (2 patients), t(11;19)(q13;q13) (2 patients), t(1;3)(p36;q21) (2 patients), and t(3;5)(q21;q31) (1 patient). Increased karyotypic complexity with additional balanced and unbalanced rearrangements was observed in 70% of cases. Among 54 cases with secondary abnormalities, chromosome 5 and/or 7 abnormalities were observed in 59%. The most frequent primary diseases were breast cancer (24 cases), Hodgkin disease (14 cases), non‐Hodgkin lymphoma (10 cases), and de novo ALL (5 cases). Thirty‐seven patients received alkylating agents plus topoisomerase II inhibitors with or without radiation therapy. The presenting diagnosis was t‐AML in 47 cases, t‐MDS in 23 cases (10 progressed to t‐AML), and t‐ALL in seven cases, five of whom had a t(9;22). The median latency time from initiation of original therapy to therapy‐related disease diagnosis was quite long (69 months), and the overall median survival from the date of therapy‐related disease diagnosis was very short (7 months). The 1‐year survival rate was 34 ± 7%, with no significant differences among subsets. Comparison with previously reported cases showed increased karyotypic complexity and adult presentation of pediatric‐associated chromosome abnormalities. © 2002 Wiley‐Liss, Inc.
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours
Authors: Perotti Daniela , Testi M. Adele , Mondini Patrizia , Pilotti Silvana , Green Eric D. , Pession Annalisa , Sozzi Gabriella , Pierotti Marco A. , Fossati‐Bellani Franca , Radice Paolo 
Published: August 2002

AbstractCytogenetic and molecular data indicate an involvement of genes mapped to the proximal portion of the short arm of chromosome 7 (7p) in Wilms tumours (WTs). We have analysed 38 WTs using a panel of eight microsatellite markers mapped to proximal 7p. Loss of heterozygosity (LOH) in tumour, compared with matched constitutional DNA, was identified in eight cases. To define better the minimal region commonly deleted in these tumours, they were analysed with nine additional markers, mapped within the region of interest. One tumour (case 30) showed LOH for only one marker (D7S510), while maintaining heterozygosity for the two immediately flanking loci (D7S555 and D7S668). This result was confirmed by fluorescence in situ hybridisation analysis, which showed that in the majority (65%) of nuclei from tumour 30 hybridising with a bacterial artificial chromosome clone containing the D7S510 locus, only one signal was visible. Noticeably, both markers defining the limits of the observed deleted region are simultaneously present within two distinct overlapping yeast artificial chromosome (YAC) clones mapped to chromosome bands 7p13–p14. This suggests that the maximum length of the missing DNA fragment was approximately 1.3 Mb, corresponding to the length of the smaller of the two YAC clones. In all other cases that showed LOH, the deletion encompassed the 7p13–p14 region. For this reason, we speculate that the identified interval contains a gene whose inactivation is important for the development of at least a fraction of WTs. © 2001 Wiley‐Liss, Inc.
ALK probe rearrangement in a t(2;11;2)(p23;p15;q31) translocation found in a prenatal myofibroblastic fibrous lesion: Toward a molecular definition of an inflammatory myofibroblastic tumor family?
Authors: Sirvent Nicolas , Hawkins Anita L. , Moeglin Daniel , Coindre Jean‐Michel , Kurzenne Jean‐Yves , Michiels Jean‐François , Barcelo Gisèle , Turc‐Carel Claude , Griffin Constance A. , Pedeutour Florence 
Published: August 2002

AbstractA prenatal tumor located in the lumbar paravertebral area was discovered during a routine ultrasound examination at 32 weeks of pregnancy and surgically removed at 4 months of life. The histopathological diagnosis was first suggested to be an infantile desmoid fibromatosis. The tumor karyotype showed a three‐way translocation involving both chromosomes 2 and a chromosome 11, t(2;11;2)(p23;p15;q31). Fluorescence in situ hybridization with a probe flanking the ALK gene at 2p23 demonstrated a rearrangement, as previously described in inflammatory myofibroblastic tumors (IMTs). In light of the genetic analysis, the histopathological diagnosis was revised to IMT, although inflammatory cells were scarce. IMTs are pseudosarcomatous inflammatory lesions that primarily occur in the soft tissue and viscera of children and young adults. Our report describes for the first time the occurrence of IMT during prenatal life. The ALK rearrangement may represent the molecular definition of a subgroup of mesenchymal tumors, not always with complete morphological features of IMT, similar to the model of EWS rearrangement in the Ewing sarcoma family of tumors. © 2001 Wiley‐Liss, Inc.
Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia
Authors: Busson‐Le Coniat Maryvonne , Khac Florence Nguyen , Daniel Marie‐Thèrése , Bernard Olivier A. , Berger Roland 
Published: August 2002

AbstractFluorescence in situ hybridization (FISH) studies were performed in three cases of acute lymphoblastic leukemia (ALL) with marker chromosomes to analyze the contribution of chromosome 21 in these markers. FISH with a chromosome 21 painting probe confirmed that chromosome 21 was involved in all three cases. FISH with YAC probes showed that the number of extra copies varied according to their location on chromosome 21. Attention was focused on the AML1 gene, which was present as five copies in most of the cells exhibiting the marker chromosomes. As controls, 11 cases of childhood ALL were studied with PAC probes covering AML1. The results agreed with the banded karyotypes in 10 patients. FISH uncovered a clone with four copies of AML1 which were only observed by FISH analysis of interphase nuclei in one patient. No point mutation was detected in exons 3–5, encoding the runt domain of AML1, in the three cases, suggesting an oncogenic role of wild‐type AML1 amplification. © 2001 Wiley‐Liss, Inc.
True and false positive peaks in genomewide scans: The long and the short of it
Authors: Visscher Peter , Haley Chris 
Published: August 2002

AbstractWhen performing a genome scan in linkage or linkage disequilibrium studies to detect loci underlying complex or quantitative traits, it is important to attempt to distinguish between true and false positives using the appropriate statistical methods. There has been some controversy in the literature regarding the use of the length of a positive peak, i.e., the length of a chromosome region displaying identity‐by‐descent in linkage studies among affected individuals or the length of a continuous chromosome region for which the test statistic is above a certain threshold. We show in this study, by reasoning and by simulation studies, that conditional on the strength of evidence for a locus affecting a trait of interest, i.e., conditional on the peak height of a test statistic, there is no information in the length of the peak. Our finding has implications for linkage and association studies. Genet. Epidemiol. 20:409–414, 2001. © 2001 Wiley‐Liss, Inc.
Mixture models for linkage analysis of affected sibling pairs and covariates
Authors: Devlin B. , Jones Bobby L. , Bacanu Silviu‐Alin , Roeder Kathryn 
Published: August 2002

AbstractTo determine the genetic etiology of complex diseases, a common study design is to recruit affected sib/relative pairs (ASP/ARP) and evaluate their genome‐wide distribution of identical by descent (IBD) sharing using a set of highly polymorphic markers. Other attributes or environmental exposures of the ASP/ARP, which are thought to affect liability to disease, are sometimes collected. Conceivably, these covariates could refine the linkage analysis. Most published methods for ASP/ARP linkage with covariates can be conceptualized as logistic models in which IBD status of the ASP is predicted by pair‐specific covariates. We develop a different approach to the problem of ASP analysis in the presence of covariates, one that extends naturally to ARP under certain conditions. For ASP linkage analysis, we formulate a mixture model in which a disease mutation is segregating in only a fraction α of the sibships, with 1 – α sibships being unlinked. Covariate information is used to predict membership within groups; in this report, the two groups correspond to the linked and unlinked sibships. For an ASP with covariate(s) Z = z and multilocus genotype X = x, the mixture model is α(z)g(x; λ) + [1 – α(z)]g0(x), in which g0(x) follows the distribution of genotypes under the null IBD distribution and g(x; λ) allows for increased IBD sharing. Two mixture models are developed. The pre‐clustering model uses covariate information to form probabilistic clusters and then tests for excess IBD sharing independent of the covariates. The Cov‐IBD model determines probabilistic group membership by joint consideration of covariate and IBD values. Simulations show that incorporating covariates into linkage analysis can enhance power substantially. A feature of our conceptualization of ASP linkage analysis, with covariates, is that it is apparent how data analysis might evaluate covariates prior to the linkage analysis, thus avoiding the loss of power described by Leal and Ott [2000] when data are stratified. Genet. Epidemiol. 22:52–65, 2002. © 2002 Wiley‐Liss, Inc.
pH‐sensitive inwardly rectifying chloride current in cultured rat cortical astrocytes
Authors: Makara Judit K. , Petheö Gábor L. , Tóth Attila , Spät András 
Published: August 2002

AbstractThe effect of pHo on plasma membrane chloride current of cultured rat cortical astrocytes was investigated using the whole‐cell patch‐clamp technique. In the presence of intra‐ and extracellular solutions with symmetrical high Cl− content and K+ channel inhibitors, the cells exhibited an inwardly rectifying current. The current activated slowly at potentials negative to −40 mV and did not display time‐dependent inactivation. The current was inhibited by 0.1 mM Cd2+, 0.1 mM Zn2+, 1 mM 9‐anthracene‐carboxylic acid, and 0.2 mM 5‐nitro‐2‐(3‐phenylpropylamino)benzoic acid, but not by 10 mM Ba2+ or 3 mM Cs+. Reversal potential of the current followed the chloride equilibrium potential and was not influenced by changes in K+ or Na+ concentration. The inwardly rectifying chloride current was augmented by extracellular acidosis and reduced by alkalosis. The pH sensitivity was most pronounced in the physiologically relevant pHo range of 6.9–7.9. Lowering pH to 6.4 induced no additional increase in steady‐state current amplitude compared with pHo 6.9, but it substantially slowed the activation kinetics. According to its kinetic and pharmacological properties this chloride current is similar to that found in cultured rat astrocytes after long‐term treatment with dibutyryl‐cAMP, however, in our cultures it was consistently expressed without any treatment with the drug. Considering that astrocytes possess carbonic anhydrase and Cl−/HCO3− antiporter, this current may participate in the regulation of the interstitial and astrocyte pH. GLIA 34:52–58, 2001. © 2001 Wiley‐Liss, Inc.
Serum deprivation and NGF induce and modulate voltage‐gated Na+ currents in human astrocytoma cell lines
Authors: Kraft Robert , Basrai Daniel , Benndorf Klaus , Patt Stephan 
Published: August 2002

AbstractGlial tumor cells derived from primary tissue express large voltage‐gated Na+ currents, whereas glioma cell lines usually lack this feature. We studied the effect of serum deprivation on the expression of Na+ currents in two astrocytoma cell lines (1321N1 and A172). Serum deprivation for more than 2 days sufficed to induce large Na+ currents in both cell lines; 300 nM of the specific blocker of voltage‐gated Na+ channels, tetrodotoxin, blocked these currents by about 85%. During serum deprivation, the cells also underwent morphological changes that were characterized by cell rounding and outgrowth of processes. Treatment with 100 ng/ml nerve growth factor (NGF) promoted these morphological changes and also accelerated the development of Na+ currents. In 1321N1 cells, NGF increased the Na+ current density after short serum deprivation (3–6 d) and changed several gating properties after longer serum deprivation (9–13 d). In comparison with cells from the early culture stage (3–6 d), the steady‐state inactivation of the Na+ current was shifted by −24 mV in NGF‐treated cells from the late (9–13 d) culture stage. In untreated cells, this shift was only −13 mV. NGF accelerated the kinetics of inactivation and shifted the current‐voltage relationship in cells from the late culture stage by −14 mV. In A172 cells, most of these effects were present already after short serum deprivation either in presence or absence of NGF. It is concluded that in astrocytoma cells, Na+ currents are induced by serum deprivation and are modulated by NGF. This result supports the idea that NFG controls Na+ currents in these cells by autocrine stimulation. GLIA 34:59–67, 2001. © 2001 Wiley‐Liss, Inc.
Astrocytes contribute to neuronal impairment in βA toxicity increasing apoptosis in rat hippocampal neurons
Authors: Malchiodi‐Albedi Fiorella , Domenici Maria Rosaria , Paradisi Silvia , Bernardo Antonietta , Ajmone‐Cat Maria Antonietta , Minghetti Luisa 
Published: August 2002

AbstractAstrocytosis is a common feature of amyloid plaques, the hallmark of Alzheimer's disease (AD), along with activated microglia, neurofibrillary tangles, and β‐amyloid (βA) deposition. However, the relationship between astrocytosis and neurodegeneration remains unclear. To assess whether βA‐stimulated astrocytes can damage neurons and contribute to βA neurotoxicity, we studied the effects of βA treatment in astrocytic/neuronal co‐cultures, obtained from rat embryonic brain tissue. We found that in neuronal cultures conditioned by βA‐treated astrocytes, but not directly in contact with βA, the number of apoptotic cells increased, doubling the values of controls. In astrocytes, βA did not cause astrocytic cell death, nor did produce changes in nitric oxide or prostaglandin E2 levels. In contrast, S‐100β expression was remarkably increased. Our data show for the first time that βA–astrocytic interaction produces a detrimental effect on neurons, which may contribute to neurodegeneration in AD. GLIA 34:68–72, 2001. © 2001 Wiley‐Liss, Inc.
Extrapyramidal signs and cognitive abilities in Alzheimer's disease
Authors: Caligiuri Michael P. , Peavy Guerry , Galasko Douglas R. 
Published: August 2002

AbstractObjectiveTo evaluate whether the relationship between extrapyramidal signs (EPS) and cognitive disturbances in Alzheimer's disease (AD) is influenced by illness duration.MethodsA multivariate regression analysis was used to study the relationships between EPS, illness duration and five cognitive ability areas based on the Mattis Dementia Rating Scale (DRS) in 89 clinically diagnosed AD patients with extrapyramidal motor involvement.ResultsSeverity of EPS was statistically associated with performance on four cognitive ability areas from the DRS including: attention, initiation and perseveration, construction and memory. Age was a significant factor related to severity of EPS. However illness duration did not contribute to the strength of the association between EPS and cognitive disturbances in patients with AD.ConclusionsThe findings of the present study support the notion that while neuropsychological and motor functions often coexist in patients with AD, their relationship seems to be unrelated to degenerative processes that accumulate throughout the illness. Copyright © 2001 John Wiley & Sons, Ltd.
Depressive symptoms in patients with Alzheimer's disease
Authors: Purandare Nitin , Burns Alistair , Craig Sarah , Faragher Brian , Scott Kathy 
Published: August 2002

AbstractObjectivesA comparison was made between the depressive symptom profiles of thirty patients with Alzheimer's disease (AD) who did not have co‐existing depression and thirty patients with major depression who did not have co‐existing dementia. The main objective was to identify symptoms common to both disorders and those which may be able to differentiate AD from major depression.MethodA sample of patients suffering from either AD (n = 30) or major depression (n = 30) were recruited from a specialist old age psychiatry service. Depressive symptoms were profiled using the Hamilton Depression Rating Scale (HDRS), the Cornell Scale for Depression in Dementia (CSDD) and the Geriatric Depression Scale (GDS).ResultsDepressive symptoms were present in AD in the absence of coexistent major depression. Certain depressive symptoms from all the three scales such as sadness, diurnal variation in mood and early or late insomnia were able to differentiate the two disorders with almost 90% accuracy while symptoms such as irritability, retardation and weight loss were common to both and were unable to differentiate the two.ConclusionDepressive symptoms occur in AD when co‐existing depression is ruled out. Their recognition has implications for the diagnosis of major depression in these patients. Copyright © 2001 John Wiley & Sons, Ltd.
Sensitivity of prefrontal cortex to changes in target probability: A functional MRI study
Authors: Casey B. J. , Forman Steven D. , Franzen Peter , Berkowitz Aaron , Braver Todd S. , Nystrom Leigh E. , Thomas Kathleen M. , Noll Douglas C. 
Published: August 2002

AbstractElectrophysiological studies suggest sensitivity of the prefrontal cortex to changes in the probability of an event. The purpose of this study was to determine if subregions of the prefrontal cortex respond differentially to changes in target probabilities using functional magnetic resonance imaging (fMRI). Ten right‐handed adults were scanned using a gradient‐echo, echo planar imaging sequence during performance of an oddball paradigm. Subjects were instructed to respond to any letter but “X”. The frequency of targets (i.e., any letter but X) varied across trials. The results showed that dorsal prefrontal regions were active during infrequent events and ventral prefrontal regions were active during frequent events. Further, we observed an inverse relation between the dorsal and ventral prefrontal regions such that when activity in dorsal prefrontal regions increased, activity in ventral prefrontal regions decreased, and vice versa. This finding may index competing cognitive processes or capacity limitations. Most importantly, these findings taken as a whole suggest that any simple theory of prefrontal cortex function must take into account the sensitivity of this region to changes in target probability. Hum. Brain Mapping 13:26–33, 2001. © 2001 Wiley‐Liss, Inc.
Reactions of benzeneselenyl and benzenesulfenyl chlorides with syn‐ and anti‐9,9′‐bibenzonorbornenylidenes
Authors: Noda Koichi , Sugihara Yoshiaki , Nakayama Juzo 
Published: August 2002

AbstractReaction of syn‐9,9′‐bibenzonorbornenylidene (1a) with benzeneselenyl chloride produced vic‐dichloride (4) exclusively, which corresponds to the cis‐addition product of 1a with molecular chlorine, with retention of the original alkene configuration. Moreover, the reaction of anti‐9,9′‐bibenzonorbornenylidene (1b) with benzeneselenyl chloride gave the same vic‐dichloride (4) exclusively with inversion of the original alkene configuration. No expected benzeneselenyl chloride adducts were formed in both cases. On the other hand, reactions of 1a and 1b with benzenesulfenyl chloride only resulted in the syn–anti isomerization of the alkenes without any adduct formation. Mechanisms of these reactions are discussed in some detail. © 2001 John Wiley & Sons, Inc. Heteroatom Chem 12:625–629, 2001
Reactions of transiently formed nitrilium phosphanylide chromium, molybdenum, and tungsten complexes with heterocumulenes
Authors: Streubel Rainer , Neumann Christoph 
Published: August 2002

AbstractThermal decomposition of the 2H‐azaphosphirene metal complexes 1a–c in the presence of 1‐piperidinecarbonitrile and heterocumulene derivatives 3, 4, and 5 yielded the Δ3‐1,3,2‐oxazaphospholene complexes 6c and the Δ3‐1,3,2‐thiazaphospholene complexes 7a–c as isolable products; the latter represent the first complexes of this ring system. It is remarkable that these trapping reactions of the nitrilium phosphanylide complexes 2a–c, which were formed as reactive intermediates, proceeded with high regio‐ and substrate selectivities. The complexes were isolated by column chromatography and characterized by elemental analysis, NMR spectroscopy and mass spectrometry. © 2002 John Wiley & Sons, Inc. Heteroatom Chem 13:72–76, 2002; DOI 10.1002/hc.1108
Private and social time preferences for health and money: an empirical estimation
Authors: Lazaro Angelina , Barberan Ramon , Rubio Encarnacion 
Published: August 2002

AbstractThe main objective of this paper is to examine the relationship between individual time preference for health and money. To that end, we tested whether individuals discount their own health at the same rate as their own money and, similarly, whether they discount social health in the same terms as social money. To offer private and social money and health choices is, to the best of our knowledge, new in the literature on the estimation of time preferences and, in our view, represents a valid way in which to respond to the question of the uniform or differential discount of health, as against monetary, consequences. The results of our estimation suggest that a sample of students exhibit higher time preference rates for health than money, this being the case when the exchanges are both private and public. Copyright © 2001 John Wiley & Sons, Ltd.
A general model of the impact of absenteeism on employers and employees
Authors: Pauly Mark V. , Nicholson Sean , Xu Judy , Polsky Dan , Danzon Patricia M. , Murray James F. , Berger Marc L. 
Published: August 2002

AbstractMost studies on the indirect costs of an illness and the cost effectiveness of a medical intervention or employer‐sponsored wellness program assume that the value of reducing the number of days employees miss from work due to illness is the wage rate. This paper presents a general model to examine the magnitude and incidence of costs associated with absenteeism under alternative assumptions regarding the size of the firm, the production function, the nature of the firm's product, and the competitiveness of the labor market. We conclude that the cost of lost work time can be substantially higher than the wage when perfect substitutes are not available to replace absent workers and there is team production or a penalty associated with not meeting an output target. In the long run, workers are likely to bear much of the incidence of the costs associated with absenteeism, and therefore be the likely beneficiaries of any reduction in absenteeism. Copyright © 2001 John Wiley & Sons, Ltd.