bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association of PTPRB gene polymorphism with drug addiction
Authors: Ishiguro Hiroki , Gong Jian‐Ping , Hall F. Scott , Arinami Tadao , Uhl George R. 
Published: March 2008

AbstractSeveral lines of evidence support the involvement of protein tyrosine phosphatase receptor type beta (PTPRB) in addiction. Generally, PTPs interact with both neuronal receptors and cell adhesion molecules, and appear to play roles in neurite growth and neuronal differentiation. We previously identified a role of the cell adhesion molecule NrCAM in polysubstance abuse vulnerability in humans, as well as in the rewarding effects of abused drugs in animals. Furthermore, we have identified genomic regions containing several cell adhesion molecules as polysubstance abuse vulnerability loci by whole‐genome association study. The present study of human chromosome 12 loci revealed that the Ser127Gly polymorphism in PTPRB is associated with substance abuse vulnerability in three independent case‐control samples (European‐American from COGA families, USA, n = 177, P = 0.047; European‐American from Maryland, USA, n = 650, P = 0.018; and African‐American from Maryland, USA, n = 331, P = 0.009). However, this polymorphism was not associated with alcoholism in Japanese subjects (n = 1,599, P = 0.37). To confirm the importance of PTPRB in responses to drugs of abuse the expression of Ptprb in mouse brain was examined after chronic morphine treatment and found to be up‐regulated in some brain regions. Thus, PTPRB is an addiction‐associated and drug‐regulated gene whose variants may affect substance abuse vulnerability. © 2008 Wiley‐Liss, Inc.
Family based association study of pediatric bipolar disorder and the dopamine transporter gene (SLC6A3)
Authors: Mick Eric , Kim Jang Woo , Biederman Joseph , Wozniak Janet , Wilens Timothy , Spencer Thomas , Smoller Jordan W. , Faraone Stephen V. 
Published: March 2008

AbstractThe dopamine transporter gene (SLC6A3) is a compelling candidate for pediatric bipolar disorder because (a) it has been associated with ADHD, (b) bipolar comorbidity with ADHD has been hypothesized to be an etiologically distinct familial subtype (c) blockade of the dopamine transporter with psychostimulants can induce mania in susceptible individuals and (d) previous studies have implicated the gene in bipolar disorder in adults. We conducted a family‐based association study of SLC6A3 in 170 affected offspring trios defined by a child (12.9 ± 5.3 years of age)with DSM‐IV Bipolar‐I disorder. Twenty‐eight tag SNPs were chosen from the CEU (European) population of the International HapMap project (www.hapmap.org). Results indicated nominally positive association for 4 SNPs (rs40184, rs11133767, rs3776512, and rs464049), but only rs40184 survived correction for multiple statistical comparisons (P = 0.038). This is the first examination of the association with SLC6A3 and bipolar disorder in children and, like previous findings in adults with bipolar disorder, we found evidence of association with SNPs in the 3′ region of the gene. These data provide suggestive evidence supporting a role for SLC6A3 in the etiology of pediatric bipolar disorder. © 2008 Wiley‐Liss, Inc.
Technology, genres, and value change: Literary authors and artistic use of information technology
Authors: Paling Stephen 
Published: March 2008

AbstractInformation technology provides resources with which human actors can change the patterns of social action in which they participate. Studies of genre change have been among those that have focused on such change. Those studies, however, have tended not to focus on creative genres. Producers in creative genres often produce their work in an atmosphere with little or no central control and tend to hold values that set their work apart from work found in commercial settings. This study focuses on information technology use by literary authors and asks whether literary authors are likely to use information technology in ways that will reinforce or alter the traditional values seen in American literary publishing.
Undifferentiated embryonal sarcoma of the liver in adults
Authors: Lenze Frank , Birkfellner Traute , Lenz Philipp , Hussein Kais , Länger Florian , Kreipe Hans , Domschke Wolfram 
Published: March 2008

AbstractBACKGROUNDUndifferentiated embryonal sarcoma of the liver (UESL), a rare tumor that predominantly affects children, generally has been considered an aggressive neoplasm with an unfavorable prognosis. More recent reports have indicated that modern multimodal treatment and supportive care improve the survival of children with UESL. Data regarding the treatment and survival of adults have not been reviewed comprehensively, and only a few adult patients with UESL have been reported in the literature.METHODSThe authors analyzed demographics, treatment, and actuarial survival of all reported cases of UESL in patients aged ≥15 years (n = 67 patients). In addition, 1 case is presented of a patient with UESL who was treated successfully at the authors' institution.RESULTSThe median survival of all patients with UESL who were analyzed was 29 months. Patients who underwent complete tumor resection followed by adjuvant chemotherapy survived over a median follow‐up of 28.5 months and had significantly better survival compared with patients who underwent surgical treatment alone. Patients who underwent an incomplete tumor resection had a tendency toward poorer outcomes.CONCLUSIONSTo the authors' knowledge, this is the first report to demonstrate a significant effect on survival for adjuvant chemotherapy after complete surgical resection of UESL in adults. The role of neoadjuvant chemotherapy was not evaluated in this study. In the case study presented herein, combined therapy with surgery and chemotherapy led to a complete, sustained remission that has lasted for >6 years to date. Cancer 2008. © 2008 American Cancer Society.
Genetic modifiers of the physical malformations in velo‐cardio‐facial syndrome/DiGeorge syndrome
Authors: Aggarwal Vimla S. , Morrow Bernice E. 
Published: March 2008

AbstractVelo‐cardio‐facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro‐deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that Tbx1, a T‐ box containing transcription factor present on the deleted region, is likely responsible for the etiology of the syndrome. Furthermore, mutations in TBX1 have been found in rare non‐deleted patients. Despite having the same sized deletion, most VCFS/DGS patients exhibit significant clinical variability. Stochastic, environmental and genetic factors likely modify the phenotype of patients with the disorder. Here, we review mouse genetics studies, which may help identify possible genetic modifiers for the physical malformations in VCFS/DGS. © 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:19–25.
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
Authors: Prasad Sarah E. , Howley Sarah , Murphy Kieran C. 
Published: March 2008

AbstractThere is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association between 22q11.2DS and schizophrenia, especially in adulthood. Deletion of 22q11.2 is the third highest risk for the development of schizophrenia, with only a greater risk conferred by being the child of two parents with schizophrenia or the monozygotic co‐twin of an affected individual. Both linkage and association studies of people with schizophrenia have implicated several susceptibility genes, of which three are in the 22q11.2 region; catechol‐o‐methyltransferase (COMT), proline dehydrogenase (PRODH), and Gnb1L. In addition, variation in Gnb1L is associated with the presence of psychosis in males with 22q11.2DS. In mouse models of 22q11.2DS, haploinsufficiency of Tbx1 and Gnb1L is associated with reduced prepulse inhibition, a schizophrenia endophenotype. The study of 22q11.2DS provides an attractive model to increase our understanding of the development and pathogenesis of schizophrenia and other psychiatric disorders in 22q11.2DS and in wider population. © 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:26–34.
A new account of the neurocognitive foundations of impairments in space, time, and number processing in children with chromosome 22q11.2 deletion syndrome
Authors: Simon Tony J. 
Published: March 2008

AbstractIn this article, I present an updated account that attempts to explain, in cognitive processing and neural terms, the nonverbal intellectual impairments experienced by most children with deletions of chromosome 22q11.2. Specifically, I propose that this genetic syndrome leads to early developmental changes in the structure and function of clearly delineated neural circuits for basic spatiotemporal cognition. This dysfunction then cascades into impairments in basic magnitude and then numerical processes, because of the central role that representations of space and time play in their construction. I propose that this takes the form of “spatiotemporal hypergranularity”; the increase in grain size and thus the reduced resolution of mental representations of spatial and temporal information. The result is that spatiotemporal processes develop atypically and thereby produce the characteristic impairments in nonverbal cognitive domains that are a hallmark feature of chromosome 22q11.2 deletion syndrome. If this hypothesis driven account is supported by future research, the results will create a neurocognitive explanation of spatiotemporal and numerical impairments in the syndrome that is specific enough to be directly translated into the development of targeted therapeutic interventions. © 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:52–58.
Early changes in renal hemodynamics in children with diabetes: Doppler sonographic findings
Authors: Pelliccia Piernicola , Savino Alessandra , Cecamore Cristina , Primavera Alessandra , Schiavone Cosima , Chiarelli Francesco 
Published: March 2008

AbstractPurposeAlthough clinically evident diabetes‐related microvascular complications are extremely rare in childhood, early functional and structural abnormalities may be present a few years after the onset of the disease. Renal Doppler resistance index (RI) is widely used for the evaluation of blood flow in renal parenchymal diseases. This study was designed to investigate the possible alteration of intrarenal Doppler RI in children with diabetes compared with healthy children.MethodsThe study was performed in 42 children with diabetes (age range, 6–18 years) and in 41 age‐matched healthy controls, all having normal renal function. RI was measured with Doppler sonography in interlobular renal arteries.ResultsRI values were significantly greater in children with diabetes than in age‐matched healthy controls (0.64 ± 0.03 versus 0.60 ± 0.04, P < 0.035). RI correlated positively with HbA1c (P < 0.001, r = 0.42) and diabetes duration (P < 0.05, r = 0.39).ConclusionEarly changes in renal hemodynamics are detectable on Doppler sonography in children with diabetes without any evidence of renal dysfunction and may suggest a preclinical stage of diabetic nephropathy. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008.
Ectopic intrathyroidal thymus misdiagnosed as a thyroid nodule: Sonographic appearance
Authors: Megremis Stylianos , Stiakaki Eftichia , Tritou Ioanna , Bonapart Ingrid Elizabeth , Tsilimigaki Amalia 
Published: March 2008

AbstractAn 11‐year‐old boy under suppression therapy for a solitary thyroid nodule was referred for sonographic examination. The diagnosis had been made at another institution, based only on sonography without cytopathologic verification. A small fusiform lesion, which was homogeneously hypoechoic with diffuse bright internal echoes, was demonstrated in the right lower pole of the thyroid. A normal elongated thymus with a cervical component was then found connected to the thyroid with an accessory lobe, which was embedded in the lower thyroid pole mimicking a solitary nodule. We discuss the developmental abnormalities of the thymus and their clinical significance in childhood with a brief review of the literature. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008.
Warfarin‐induced fetal intracranial subdural hematoma
Authors: Oswal Kamal , Agarwal Ajay 
Published: March 2008

AbstractAntenatal intracranial hemorrhage is a rare cause of intrauterine fetal death, with an incidence of 4.6–5.1% in autopsy studies of stillborn fetuses. Warfarin‐associated fetal bleeding is also a rare problem, with an incidence of 4.3% in the literature. We present a case of warfarin‐induced subdural hematoma occurring in the second trimester. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008.
Anhidrosis in multiple system atrophy: A preganglionic sudomotor dysfunction?
Authors: Donadio Vincenzo , Nolano Maria , Elam Mikael , Montagna Pasquale , Provitera Vincenzo , Bugiardini Enrico , Baruzzi Agostino , Santoro Lucio , Liguori Rocco 
Published: March 2008

AbstractAnhidrosis occurs in the majority of multiple system atrophy (MSA) patients but the underlying site of lesion is not well established. We describe three patients with long‐standing MSA and anhidrosis diagnosed on the basis of a thermoregulatory sweating test. In biopsies of anhidrotic skin, immunofluorescence analysis disclosed a well preserved postganglionic sudomotor innervation in all three patients supporting the hypothesis of a preganglionic nerve fiber lesion underlying their anhidrosis. Postganglionic sudomotor fiber integrity was also confirmed by normal electrodermal responses in one patient, whereas such responses and microneurographically detectable skin sympathetic nerve activity were absent in the other two MSA patients, suggesting a functional inactivity of structurally intact postganglionic sympathetic skin fibers. © 2008 Movement Disorder Society.
Kinetics of pronuclear development and the effects of vector type and timing of injection on the efficiency of gene transfer into rhesus macaque embryos
Authors: Kubisch H.M. , Gagliardi C. , Romero D.G. , Bunnell B.A. , Ratterree M.S. 
Published: March 2008

AbstractA series of experiments was performed to determine the dynamics of pronuclear development as well as the efficiency of either adenovirus‐associated (AAV) or lentivirus‐derived vectors to introduce a green fluorescent protein (GFP) reporter gene into rhesus macaque (Macaca mulatta) embryos. Assessment of pronuclear development at various times after fertilization revealed that the appearance of pronuclei was determined by the presence of the first and the timing of the second polar body. The dynamics of pronuclear formation was a significant determinant of whether an oocyte reached the blastocyst stage, however, when the percentage of blastocysts were based on the number of zygotes, the timing of the appearance of polar bodies did not appear to have any effect on subsequent development. Injection of different AAV‐derived vectors showed that the serotype of the vector did not affect development or the proportion of transgenic embryos. Moreover, all putative transgenic embryos proved to be expression mosaics. Injection of embryos with lentiviral vectors showed that timing of injection (before or after fertilization) had no effect on subsequent transgene expression, but that the type of reporter gene determined post‐injection development and rate of transgenesis. The transfer of embryos following injection of a lentiviral vector into three recipients resulted in one pregnancy which was lost during the second trimester. Analysis of fetal tissues showed ubiquitous presence of the transgene and GFP expression in all tissues examined. These results show that lentivirus‐derived vectors can efficiently transform rhesus embryos and are suitable for the generation of transgenic rhesus monkeys. Mol. Reprod. Dev. 75: 1505–1514 © 2008 Wiley‐Liss, Inc.
MMP‐2 expression precedes the final ripening process of the bovine cervix
Authors: van Engelen E. , Breeveld‐Dwarkasing V.N.A. , Taverne M.A.M. , Everts M.E. , van der Weijden G.C. , Rutten V.P.M.G. 
Published: March 2008

AbstractCollagen is denatured in the gradual cervical ripening process during late pregnancy, already before the onset of final cervical ripening at parturition. Matrix Metallo Proteinases (MMPs) might be responsible for this process. To investigate the presence and potential function of MMPs at the different stages of the ripening process, serial cervical biopsies were obtained from 10 cows at Days 185 and 275 of pregnancy (approximately 5 days before calving), at parturition and at 30 days after parturition. The mRNA and protein expression of MMP‐1, MMP‐2, and MMP‐9 and of the tissue inhibitors of MMPs (TIMP)‐1 and TIMP‐2 were semi‐quantitatively determined using RT‐PCR, respectively, zymography, Westernblot, and ELISA techniques and the localization of MMP‐2 protein and presence of granulocytes by immunohistochemistry and Luna staining. At parturition compared to 185 days pregnancy the MMP‐1 protein expression and the numbers of granulocytes were significantly increased by 3 and 26‐fold respectively. MMP‐2 mRNA and protein expression had already increased 2.5 (P < 0.05) and twofold (P < 0.05) at 5 days before parturition, prior to final ripening. At that time, MMP‐2 was present in smooth muscle cells and extra cellular matrix. TIMP‐1 mRNA expression was significantly increased at parturition and TIMP‐2 mRNA expression peaked at 5 days before parturition. The increased expression of MMP‐2 at 5 days before parturition, suggests that in the cow MMP‐2 is responsible for collagen denaturation in the last part of gradual cervical ripening, while MMP‐1 and MMP‐9 are only active during the final cervical ripening process at parturition. Mol. Reprod. Dev. 75: 1669–1677, 2008. © 2008 Wiley‐Liss, Inc.
Igf2r improves the survival and transmission ratio of Igf2 transgenic mice
Authors: Pravtcheva Dimitrina D. , Wise Thomas L. 
Published: March 2008

AbstractMammals with excess insulin‐like growth factor 2 (IGFII) during embryogenesis have developmental defects that can lead to perinatal lethality. In adults, higher levels of IGFII increase the risk of cancer and may accelerate the development of atherosclerosis. IGFII can be increased as a consequence of genetic abnormalities and polymorphisms, and through epigenetic mechanisms. Decreasing IGFII levels thus can benefit human health. Degradation of IGFII is mediated by the insulin‐like growth factor type 2 receptor (IGF2R). The growth‐stimulatory effects of IGFII, and their attenuation by the IGF2R, are considered important for the evolution of IGFII/IGF2R interaction and imprinting. The IGFII/IGF2R interactions during development have been previously examined in mice carrying knock‐out alleles of these genes or their regulators. Here we tested the ability of the IGF2R to ameliorate the negative effects of IGFII on development and survival in crosses between Igf2 and Igf2r transgenic mice, which may be a better model for natural variations in the levels of these genes' products. A fraction of hemizygous Igf2 transgenic mice die in the perinatal period, some with cleft palates, with an ensuing reduction in the frequency of transgenic mice among the surviving offspring. The Igf2r transgene lowers the frequency of cleft palate and increases the percentage of Igf2 transgenic mice among the live offspring. These findings draw attention to the fact that Igf2‐associated lethality selects for the retention of IGFII/IGF2R binding in present day mammals; it may have played a similar role in the acquisition of IGFII/IGF2R binding in ancient mammals. Mol. Reprod. Dev. Published 2008 Wiley‐Liss, Inc. Mol. Reprod. Dev. 75: 1678–1687, 2008. © 2008 Wiley‐Liss, Inc.
Numerical analysis of a mathematical model for propagation of an electrical pulse in a neuron
Authors: Kaushik Aditya , Sharma Mohan D. 
Published: March 2008

AbstractThis article is devoted to the study of a mathematical model arising in the mathematical modeling of pulse propagation in nerve fibers. A widely accepted model of nerve conduction is based on nonlinear parabolic partial differential equations. When considered as part of a particular initial boundary value problem the equation models the electrical activity in a neuron. A small perturbation parameter ε is introduced to the highest order derivative term. The parameter if decreased, speeds up the fast variables of the model equations whereas it does not affect the slow variables. In order to formally reduce the problem to a discussion of the moment of fronts and backs we take the limit ε → 0. This limit is singular and is therefore the solution tends to a slowly moving solution of the limiting equation. This leads to the boundary layers located in the neighborhoods of the boundary of the domain where the solution has very steep gradient. Most of the classical methods are incapable of providing helpful information about this limiting solution. To this effort a parameter robust numerical method is constructed on a piecewise uniform fitted mesh. The method consists of standard upwind finite difference operator. A rigorous analysis is carried out to obtain priori estimates on the solution of the problem and its derivatives. A parameter uniform error estimate for the numerical scheme so constructed is established in the maximum norm. It is then proven that the numerical method is unconditionally stable and provides a solution that converges to the solution of the differential equation. A set of numerical experiment is carried out in support of the predicted theory, which validates computationally the theoretical results. © 2008 Wiley Periodicals, Inc. Numer Methods Partial Differential Eq 2008
Numerical simulation of two‐dimensional flow and compaction during the consolidation of laminated composites
Authors: Li Min , Li Yanxia , Zhang Zuoguang , Gu Yizhuo 
Published: March 2008

AbstractA new special finite element formulation and code are developed to simulate the two‐dimensional flow and compaction process during the autoclave processing of complex fiber‐reinforced thermosetting composite laminates. The numerical model is based on the Biot's consolidation principle, the fluid continuity equation, and Darcy's law. The simulation is performed for Hercules AS4/3501‐6 laminates and the predicted results are in good agreement with the results available in the literature. The laminate thickness and fiber volume fraction distribution of cured laminates are investigated from both the experiments and the simulations for T700S/5228 laminates. The simulations and experimental results are in good agreement for all the studied cases. A significantly uneven degree of consolidation along the laminate thickness direction is observed, and it is necessary to optimize the cure cycle to get uniformly compact and good quality laminates. POLYM. COMPOS., 2008. © 2008 Society of Plastics Engineers