bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bildfolgenauswertung zur Inspektion geschliffener Oberflächen (Analysis of Image Sequences for the Inspection of Grinded Surfaces)
Authors: Xin Binjian , Heizmann Michael , Kammel Sören , Stiller Christoph 
Published: April 2004

Abstract
Thema des Beitrags ist die automatische visuelle Inspektion geschliffener Oberflächen. Dazu werden neuartige Strategien auf der Grundlage von Bildfolgen mit variiertem Azimut einer gerichteten Beleuchtung vorgestellt, die sich zur Detektion von Fehlstellen in Schleiftexturen mit mehreren Riefenscharen eignen. Im Parameterraum der Beleuchtung werden geeignete Merkmale definiert, um Defektstellen in der Schleiftextur sicher zu klassifizieren. Gegenüber Standardverfahren, die eine Texturanalyse durch Auswertung lokaler Nachbarschaftsbeziehungen vornehmen, benötigen die hier gezeigten Strategien eine bedeutend geringere Bildauflösung und erweisen sich auch bei den i. Allg. schwierig zu beleuchtenden Schleiftexturen als zuverlässig und robust.
Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls
Authors: Ikeuchi Tatsuro , Yang Zeng‐Quan , Wakamatsu Kyoko , Kajii Tadashi 
Published: April 2004

AbstractCultured peripheral blood lymphocytes from ten normal individuals, treated with 0.075 M KCl at 37°C for 20 min, showed 0–2% cells in premature chromatid separation (PCS), a configuration with split centromeres and chromatids of most or all chromosomes. When treated for 30 min, they increased to 19% in the average, and at 45 min to 63%. Similar and significant effects of temperature and duration of hypotonic treatment on the frequencies of PCSs were found also in mitotic lymphocytes from patients with homozygous PCS trait, a cancer‐prone disorder with >50% lymphocytes in PCS, mosaic variegated aneuploidy, and a variety of clinical manifestations; and from their heterozygous carrier parents. B lymphoblastoid cells from two infants with the homozygous PCS trait did not show PCSs when processed without hypotonic treatment. The frequencies of their PCSs increased with increasing temperature and duration of hypotonic treatment, attaining more than 65% after 20 min treatment and 90% after 45 min at 37°C. PCS is thus likely to be induced largely by hypotonic treatment. Treatment at 37°C for 20 min was found to be most suitable for the count of PCSs, in which the frequency of PCSs becomes almost zero in cells from normal individuals, and the difference in frequency of PCSs was most remarkable between the patients and heterozygous carriers, and between the heterozygous carriers and normal individuals. Chromosomes from the patients with the homozygous PCS trait tended to be long, and their PCSs tended to have a large number of widely separated sister chromatids. Chromosomes from normal individuals tended to be short, and the sister chromatids in their PCSs were set close to each other. © 2004 Wiley‐Liss, Inc.
Hermansky–Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
Authors: Bachli Esther B. , Brack Thomas , Eppler Elisabeth , Stallmach Thomas , Trüeb Ralph M. , Huizing Marjan , Gahl William A. 
Published: April 2004

AbstractHermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis. Six human genes HPS1, ADB3A, HPS3, HPS4, HPS5, and HPS6 have been identified as cause of the six known subtypes of HPS. While there exist nearly 500 Puerto Rican and non‐Puerto Rican HPS‐1 patients, very few HPS‐4 patients have been reported, and most of these have not been described in detail. We now delineate the clinical characteristics of an HPS‐4 patient homozygous for a novel HPS‐4 mutation, P685delC. The patient, the first individual with HPS reported from Sri Lanka, had severe pulmonary fibrosis, typical of HPS‐1 disease, without granulomatous colitis. We conclude that pulmonary fibrosis occurs as part of HPS‐4 and that HPS should be considered in all ethnic groups. © 2004 Wiley‐Liss, Inc.
Confirmation of a dyslexia susceptibility locus on chromosome 1p34‐p36 in a set of 100 Canadian families
Authors: Tzenova Jordana , Kaplan Bonnie J. , Petryshen Tracey L. , Field L. Leigh 
Published: April 2004

AbstractDyslexia is a common and genetically complex trait that manifests primarily as a reading disability independent of general intelligence and educational opportunity. Strong evidence for a dyslexia susceptibility locus on chromosome 1p34‐p36 (near marker D1S199) was recently reported, and an earlier study found suggestive evidence for linkage to the same region. We tested for the presence of a dyslexia gene in this region in a sample of 100 Canadian families using both qualitative and quantitative definitions of the phenotype. Using a qualitative definition of dyslexia (affected, unaffected, or uncertain), the largest multipoint Genehunter Maximum LOD‐Score (MLS) in 100 core nuclear families was 3.65 at D1S507, distal to D1S199. Quantitative trait locus (QTL) linkage analysis was performed for four measures of dyslexia (phonological awareness, phonological coding, spelling, and rapid automatized naming speed) employing the variance components approach implemented in Genehunter. Using a model with QTL additive and dominance variance and polygenic additive variance, the multipoint LOD scores maximized proximal to D1S199 (between D1S552 and D1S1622), with peaks of 4.01 for spelling and 1.65 for phonological coding (corresponding LOD scores under 1 degree of freedom were 3.30 and 1.13, respectively). In conclusion, our study confirms and strengthens recent findings of a dyslexia susceptibility gene on chromosome 1p34‐p36 (now designated DYX8). © 2003 Wiley‐Liss, Inc.
COMT158 polymorphism and hostility
Authors: Volavka Jan , Kennedy James L. , Ni Xingqun , Czobor Pal , Nolan Karen , Sheitman Brian , Lindenmayer Jean‐Pierre , Citrome Leslie , McEvoy Joseph , Lieberman Jeffrey A. 
Published: April 2004

AbstractThe main study was designed primarily to compare the clinical effects of four antipsychotics in 157 patients with schizophrenia or schizoaffective disorder. The secondary genetic study, reported here, is based on a subset of 60 patients who consented to genotyping assays. Based on previous work with the catechol‐O‐methyltransferase (COMT) 158 polymorphism, we hypothesized that the Met–Met homozygotes would be more hostile than the heterozygotes and the Val–Val homozygotes. Hostility ratings at baseline were used to test this hypothesis. The Met–Met homozygotes (N = 7) were found to have significantly higher levels of hostility than the other patients (N = 53). The hypothesis was thus supported. The finding should be replicated in a larger sample. © 2003 Wiley‐Liss, Inc.
Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene
Authors: Gadzicki Dorothea , Müller‐Vahl Kirsten R. , Heller Daniela , Ossege Sebastian , Nöthen Markus M. , Hebebrand Johannes , Stuhrmann Manfred 
Published: April 2004

AbstractTourette syndrome (TS) is a complex inherited disorder of unknown aetiology, characterized by multiple motor and vocal tics. Involvement of the central cannabinoid (CB1) system is suggested because of therapeutic effects of marijuana (Cannabis sativa L.) consumption and Δ9‐tetrahydrocannabinol (‐THC) treatment in TS patients. The central cannabinoid receptor (CNR1) gene encoding the CNR1 was considered as a candidate gene for TS and systematically screened by single‐strand conformation polymorphism (SSCP) analysis and sequencing. Compared with the published CNR1 sequence, three single base substitutions were identified: 1326T → A, 1359G → A, 1419 + 1G → C. The change at position 1359 is a common polymorphism (1359 G/A) without allelic association with TS. 1326T → A was present in only one TS patient and is a silent mutation which does not change codon 442 (valine). 1419 + 1G → C affects the first nucleotide immediately following the coding sequence. It was first detected in three of 40 TS patients and none of 81 healthy controls. This statistically significant association with TS (P = 0.034) could not be confirmed in two subsequent cohorts of 56 TS patients (one heterozygous for 1419 + 1G → C) and 55 controls and 64 patients and 66 controls (one heterozygous for 1419 + 1G → C), respectively. Transcript analysis of lymphocyte RNA from 5 1419 + 1G → C carriers revealed no systematic influence on the expression level of the mutated allele. In addition, segregation analysis of 1419 + 1G → C in affected families gave evidence that 1419 + 1G → C does not play a causal role in the aetiology of TS. We conclude that genetic variations of the CNR1 gene are not a plausible explanation for the clinically observed relation between the cannabinoid system and TS. © 2004 Wiley‐Liss, Inc.
Serotonin 1B (5HT‐1B) receptor polymorphism (G861C) in suicide victims: Association studies in German and Slavic population
Authors: Stefulj Jasminka , Büttner Andreas , Skavic Josip , Zill Peter , Balija Melita , Eisenmenger Wolfgang , Bondy Brigitta , Jernej Branimir 
Published: April 2004

AbstractSerotonergic dysfunction is believed to be involved in the susceptibility to suicide due to functional alternations in the serotonin‐related genes. Serotonin 1B (5HT‐1B) receptor mediates aggressive behavior in mice models and was proposed to be involved in the control of aggression and impulsivity in humans. In this study we have investigated the association of G861C polymorphism of the 5HT‐1B receptor gene with suicide commitment. Study was based on two independent samples, one of German (245 suicide victims vs. 248 controls) and the other of Slavic/Croatian (118 suicide victims vs. 192 controls) ethnicity. No significant differences in allele or genotype frequencies between victims and controls were demonstrated either in German or Croatian sample. There were no differences in allele frequencies between German and Croatian population, and the combined sample, having high statistical power, also did not demonstrate significant differences between victims and controls. Results provide evidence that the investigated 5HT‐1B receptor gene variants are not implicated in the susceptibility to suicide. © 2004 Wiley‐Liss, Inc.
Association of the HOPA12bp allele with a large X‐chromosome haplotype and positive symptom schizophrenia
Authors: Spinks Ruth , Sandhu Harinder K. , Andreasen Nancy C. , Philibert Robert A. 
Published: April 2004

AbstractHOPA is a X‐chromosome gene that encodes an essential nuclear receptor co‐activator. Previously, we have demonstrated that an exonic polymorphism, termed HOPA12bp, in the Opa (Opposite Paired) domain of this gene that is critical for neuronal growth and differentiation is associated with a low risk for schizophrenia. But curiously, we have also noted that all HOPA12bp probands have the same haplotype immediately surrounding the HOPA12bp, and other investigators have found evidence of population stratification with the HOPA12bp allele. Since deleterious alleles are weeded from the population, and the HOPA12bp allele is not rare, these prior findings suggest the possibility that positive selection may be occurring with respect to the HOPA12bp allele and that unique phenotypic features may be associated with this allele. To test these hypotheses, we analyzed symptom data collected from schizophrenic probands and conducted haplotyping studies around the HOPA12bp polymorphism. Consistent with our hypotheses, genotyping studies of 43 unrelated HOPA12bp males and 137 HOPAwild males demonstrated that the HOPA12bp allele is associated with a large conserved DNA haplotype that extends over several genes known to be critical for human survival. Furthermore, ANOVA analysis of symptom data demonstrated that HOPA12bp schizophrenic probands (n = 14) have significantly lower severity of negative symptoms (P < 0.002) and better attention (P < 0.002) than matched controls (n = 30). Taken together, these findings further refine the behavioral endophenotype associated with the HOPA12bp allele and suggest that the sequence surrounding HOPA may need to be considered to fully understand the molecular basis of the phenotype associated with the HOPA12bp allele. © 2004 Wiley‐Liss, Inc.
Genome‐wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: Fine mapping adds support on chromosomes 6 and 11
Authors: Pato Carlos N. , Pato M.T. , Kirby A. , Petryshen T.L. , Medeiros H. , Carvalho C. , Macedo A. , Dourado A. , Coelho I. , Valente J. , Soares M.J. , Ferreira C.P. , Lei M. , Verner A. , Hudson T.J. , Morley C.P. , Kennedy J.L. , Azevedo M.H. , Daly M.J. , Sklar P. 
Published: April 2004

AbstractAs part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome‐wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome‐wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107–114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher‐density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher‐density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome‐wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley‐Liss, Inc.
Neuromusculoskeletal computer modeling and simulation of upright, straight‐legged, bipedal locomotion of Australopithecus afarensis (A.L. 288‐1)
Authors: Nagano Akinori , Umberger Brian R. , Marzke Mary W. , Gerritsen Karin G.M. 
Published: April 2004

AbstractThe skeleton of Australopithecus afarensis (A.L. 288‐1, better known as “Lucy”) is by far the most complete record of locomotor morphology of early hominids currently available. Even though researchers agree that the postcranial skeleton of Lucy shows morphological features indicative of bipedality, only a few studies have investigated Lucy's bipedal locomotion itself. Lucy's energy expenditure during locomotion has been the topic of much speculation, but has not been investigated, except for several estimates derived from experimental data collected on other animals. To gain further insights into how Lucy may have walked, we generated a full three‐dimensional (3D) reconstruction and forward‐dynamic simulation of upright bipedal locomotion of this ancient human ancestor. Laser‐scanned 3D bone geometries were combined with state‐of‐the‐art neuromusculoskeletal modeling and simulation techniques from computational biomechanics. A detailed full 3D neuromusculoskeletal model was developed that encompassed all major bones, joints (10), and muscles (52) of the lower extremity. A model of muscle force and heat production was used to actuate the musculoskeletal system, and to estimate total energy expenditure during locomotion. Neural activation profiles for each of the 52 muscles that produced a single step of locomotion, while at the same time minimizing the energy consumed per meter traveled, were searched through numerical optimization. The numerical optimization resulted in smooth locomotor kinematics, and the predicted energy expenditure was appropriate for upright bipedal walking in an individual of Lucy's body size. Am J Phys Anthropol, 2004. © 2004 Wiley‐Liss, Inc.
Skin ligaments:
Authors: Nash Lance G. , Phillips Mark N. , Nicholson Helen , Barnett Russell , Zhang Ming 
Published: April 2004

AbstractSkin ligaments (SL) (L. retinacula cutis) are present extensively in the face, hands, feet, and in breast tissue, but have seldom been reported elsewhere in the body. The traditional histological view of the subcutaneous region is that it comprises a matrix of loose connective tissue devoid of fibrous specializations. The purpose of this study was to determine the structure and distribution of skin ligaments. Eight embalmed cadavers (3 males, 5 females, 69–90 years of age) were used in this study. Tissue was prepared using the E12 plastination technique. Macroscopic and microscopic examination demonstrated the widespread presence in the limbs and most of the rest of the body of fibrous strands linking the base of the dermis and the superficial fibers of the underlying deep fascia. The morphology and distribution of these skin ligaments were similar in the individuals examined. Variations in the structure of the skin ligaments depended on the presence of underlying muscle, neurovascular bundles, intermuscular septa and adipose tissue. We conclude that skin ligaments are complex fibrous structures that are present over most of the body. They form an extensive peripheral network in the subcutaneous fat. These ‘ligaments’ seem to provide an anchorage of skin to deep fascia that is flexible and yet resistant to mechanical loading from multi‐directional forces. The use of the E12 plastination technique coupled with fluorescent confocal microscopy has been of benefit in visualizing and delineating SLs from other soft tissue structures in three planes. Clin. Anat. 17:287–293, 2004. © 2004 Wiley‐Liss, Inc.
Anatomy of renal arterial supply
Authors: Khamanarong K. , Prachaney P. , Utraravichien A. , Tong‐Un T. , Sripaoraya K. 
Published: April 2004

AbstractA thorough knowledge of the variations of the renal artery has grown in importance with the increasing numbers of renal transplants, vascular reconstructions, and various surgical and radiologic techniques. The literature indicates that multiple renal arteries are found in 9– 76% of cadavers. The purpose of this study is to establish the incidence and characteristics of variations of renal arteries in Thais. A total of 267 Thai cadavers were dissected in the anatomy laboratory. The anatomical findings included: a single hilar artery in 82% of cases; double renal arteries in 17% of cases (one hilar artery with an upper polar artery occurred in 7%; two hilar arteries in 7%, and one hilar artery combined with one lower polar artery in 3%); and triple renal arteries occurred in 1% (two hilar arteries with one upper polar artery in 0.4% and two hilar arteries with one lower polar artery in 0.6%). In preparation for interventions, such as living renal donation, vascular reconstruction, renovascular hypertension, or radical nephrectomy, the results indicate that preoperative renal imaging is necessary and that operative techniques with attention to multiple renal arteries should be considered. Clin. Anat. 17:334–336, 2004. © 2004 Wiley‐Liss, Inc.
β‐Catenin and p53 analyses of a breast carcinoma tissue microarray
Authors: Chung Gina G. , Zerkowski Maciej P. , Ocal Idris Tolgay , Dolled‐Filhart Marisa , Kang Jung Y. , Psyrri Amanda , Camp Robert L. , Rimm David L. 
Published: April 2004

AbstractBACKGROUNDAberrant activation of the β‐catenin signaling pathway has been implicated in several malignancies, including breast carcinoma. Recently, it was shown that p53 down‐regulated β‐catenin in a complex fashion. The authors examined the expression of β‐catenin, key members of its signaling pathway, and p53 in a large cohort of breast tumors.METHODSThe authors conducted an immunohistochemical analysis of the expression of β‐catenin, upstream modulators (HER‐2/neu, Met, and epidermal growth factor receptor [EGFR]), downstream target genes (cyclin D1 and matrix metalloproteinase‐7 [MMP7]), and p53 on a tissue microarray of 346 lymph node‐negative breast carcinomas. The results were correlated with one another and with standard clinicopathologic parameters.RESULTSβ‐Catenin expression was observed in the membrane and/or cytoplasm without any significant nuclear expression. HER‐2/neu and EGFR were observed on the membrane in 21% and 6% of tumors, respectively, and Met stained in a membrane/cytoplasm distribution in 28% of cases. Cyclin D1 was expressed in the nucleus and MMP7 was expressed in the cytoplasm in 26% and 75% of tumors, respectively. Nuclear expression of p53 was noted in 31% of tumors. When each marker was analyzed separately, only p53 and Met demonstrated a significant correlation with survival. However, patients who had tumors that coexpressed high levels of β‐catenin and p53 had markedly worse overall survival (P = 0.0026). In multivariate analysis, only tumor size, Met, and the coexpression of β‐catenin and p53 retained statistical significance.CONCLUSIONSThe current findings support a potential synergistic effect of abnormal β‐catenin regulation and p53 status in the pathogenesis and natural history of lymph node‐negative breast carcinoma. Furthermore, the results show that a combined analysis of multiple markers, notably β‐catenin and p53, may enhance the prognostic capabilities compared with individual markers. Cancer 2004. © 2004 American Cancer Society.
A prospective evaluation of radiocolloid and immunohistochemical staining in colon carcinoma lymphatic mapping
Authors: Patten Lane C. , Berger David H. , Rodriguez‐Bigas Miguel , Mansfield Paul , Delpassand Ebrahim , Cleary Karen R. , Fagan Shawn P. , Curley Steven A. , Hunt Kelly K. , Feig Barry W. 
Published: April 2004

AbstractBACKGROUNDAlthough the utility of lymphatic mapping (LM) and sentinel lymph node (SLN) biopsy in patients with melanoma and breast carcinoma has been well documented, this same is not true for patients with colon carcinoma. The authors previously reported a high false‐negative rate for SLN biopsy in patients with colon carcinoma using isosulfan blue dye alone. The objective of the current study was to determine whether radiocolloid would increase the sensitivity of LM/SLN biopsy in patients with colon carcinoma.METHODSThe authors performed LM on 57 patients with colon carcinoma using both isosulfan blue dye and radiocolloid. The SLN(s) were identified by either their blue color or by increased radioactivity. The SLNs then underwent both routine histologic sectioning and immunohistochemical (IHC) staining for cytokeratins.RESULTSAn SLN was identified in 56 patients (98%). Radiocolloid was able to identify only 1 additional positive SLN (9%). Overall, it was found that the disease had metastasized to the lymph nodes in 22 patients, even though there was no evidence of disease in the SLN(s) in 11 of those 22 patients on routine histologic sectioning (false‐negative rate, 50%; sensitivity, 50%). In five patients, IHC of the SLN was the only indicator of metastatic disease. The inclusion of IHC‐positive SLNs in these calculations would decrease the false‐negative rate to 17% and would increase the sensitivity of SLN biopsy to 83%.CONCLUSIONSIn the current study, the addition of radiocolloid did not increase the sensitivity of detection of positive SLN(s) compared with the use of isosulfan blue dye alone. IHC of the SLN potentially may increase the sensitivity of LM and reduce the false‐negative rate. However, the long‐term prognostic significance of IHC in patients with colon carcinoma remains controversial. Cancer 2004. © 2004 American Cancer Society.