bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Authors: Toft Mathias , Mata Ignacio F. , Ross Owen A. , Kachergus Jennifer , Hulihan Mary M. , Haugarvoll Kristoffer , Stone Jeremy T. , Blazquez Marta , Gibson J. Mark , Aasly Jan O. , White Linda R. , Lynch Timothy , Adler Charles H. , Gwinn‐Hardy Katrina , Farrer Matthew J. 
Published: January 2007

AbstractAn increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society
Quality of life in focal, segmental, and generalized dystonia
Authors: Page Donna , Butler Anthony , Jahanshahi Marjan 
Published: January 2007

AbstractThe objective of this study was to assess quality of life (QoL) in a community‐based sample of people with various forms of dystonia and to identify the factors that predict QoL in dystonia. QoL was assessed using two generic questionnaires: the Medical Outcomes Study Short‐Form 36 (SF36) and the EuroQol questionnaire. A host of demographic, clinical, and psychosocial variables were measured to identify the best predictors of QoL in dystonia. A comparison of EuroQol and SF36 scores with the norms for the general UK population of similar age showed that people with dystonia had scores indicative of worse QoL on all domains, particularly those related to physical and social functioning. The impairment of QoL was seen in all age groups and was similar for men and women. Compared to the focal dystonia group, participants with generalized dystonia scored significantly worse on all QoL measures. Participants who were unemployed also scored significantly worse. There was also a trend for younger and separated/divorced participants to score worse on QoL measures. A stepwise regression analysis revealed that functional disability, body concept, and depression were important predictors of QoL in dystonia. Dystonia influences various aspects of QoL, particularly those related to physical and social functioning. The impairment of QoL was greater for participants with generalized dystonia, those who were unemployed, younger, and separated/divorced. Functional disability, body concept, and depression were the best predictors of QoL in dystonia. Efforts to improve health care for people with dystonia should not only focus on management of the movement disorder but also consider modifying functional disability and negative body concept and depression that contribute to poor QoL in this disorder. © 2006 Movement Disorder Society
Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Authors: Roze Emmanuel , Cochen Valérie , Sangla Sophie , Bienvenu Thierry , Roubergue Anne , Leu‐Semenescu Smaranda , Vidaihet Marie 
Published: January 2007

AbstractRett syndrome is an X‐linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome. © 2006 Movement Disorder Society
Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus–dystonia
Authors: Foncke Elisabeth M.J. , Bour Lo J. , Speelman Johannes D. , Koelman Johannes H.T.M. , Tijssen Marina A.J. 
Published: January 2007

AbstractThe pathophysiology of myoclonus–dystonia (M–D), an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic contractions, is largely unknown. In the present study, local field potential (LFP) activities in the globus pallidus internus (GPi) from two genetically proven M–D patients are investigated. Coherence analysis between GPi LFP activity and electromyographic muscle activity (EMG) and synchronization of GPi neuronal activity using event‐related spectral perturbation (ERSP) in a go–no‐go paradigm were studied. Significant increased coherence in the 3 to 15 Hz frequency band was detected between GPi LFP activity and several muscles, with the LFP leading the muscles. The ERSP analysis revealed synchronization in the 3 to 15 Hz frequency band within the GPi before the imperative cue of the go–no‐go task and desynchronization in the same band after the cue. The LFP recordings of the GPi in M–D show that the low‐frequency band previously described in dystonia is also involved in the dystonia plus syndrome M–D. The 3 to 15 Hz synchronization in the go–no‐go paradigm has not been described previously and may point to the existence of (myoclonus–)dystonia specific oscillatory activity in the GPi. © 2006 Movement Disorder Society
Magnetic resonance spectroscopic evidence for presupplementary motor area neuronal dysfunction in Parkinson's disease
Authors: Camicioli Richard M. , Hanstock Christopher C. , Bouchard Thomas P. , Gee Myrlene , Fisher Nancy J. , Martin W.R. Wayne 
Published: January 2007

AbstractThe anterior cingulate (AC) gyrus and the presupplementary motor area (pre‐SMA) show pathological changes in Parkinson's disease (PD). We examined if PD patients show magnetic resonance spectroscopy (MRS) changes in NAA/Cr in the AC, pre‐SMA, or posterior cingulate (PC). Forty‐four (27 male, 17 female) healthy nondemented PD patients and 38 controls (18 male, 20 female) 65 years of age and older were examined using the Unified Parkinson's Disease Rating Scale (UPDRS), Mini‐Mental State Examination, Frontal Assessment Battery, and Geriatric Depression Scale. MRS was performed at 1.5 T. Voxels (8 cc; PRESS; TE = 80; TR = 1,600 ms) were placed mid‐sagittally. Gray matter and white matter volumes were measured within voxels using SPM2. Spectra were analyzed using LC model to yield NAA/Cr and Cho/Cr. Demographic and cognitive measures did not differ between groups. Motor UPDRS was 17.7 ± 8.8 for PD. Pre‐SMA NAA/Cr was lower in PD (PD: 1.39 ± 0.17; control: 1.47 ± 0.16; P = 0.045) and correlated negatively with age (r = 0.39; P = 0.01), but not with UPDRS, disease duration, or dopamine equivalents. AC and PC NAA/Cr and Cho/Cr in any region did not differ (P > 0.05). In conclusion, pre‐SMA NAA/Cr was selectively decreased in PD, consistent with neuronal dysfunction. This should be further examined as a biomarker of disease in PD. © 2006 Movement Disorder Society
Altered mRNA expression patterns in bovine blastocysts after fertilisation in vitro using flow‐cytometrically sex‐sorted sperm
Authors: Morton K.M. , Herrmann D. , Sieg B. , Struckmann C. , Maxwell W.M.C. , Rath D. , Evans G. , Lucas‐Hahn A. , Niemann H. , Wrenzycki C. 
Published: January 2007

AbstractSperm‐sexing has been used to produce embryos and offspring of a pre‐determined sex in a number of species. However, the fertility of sex‐sorted sperm is reduced and the full effects of sperm‐sexing remain to be elucidated. The purpose of the present study was to investigate the potential effects of sex‐sorted sperm on mRNA expression patterns of developmentally important genes employing in vitro produced bovine embryos. Bovine embryos were produced in vitro with unsorted and sex‐sorted sperm and mRNA expression patterns were determined for glucose‐3 transporter (Glut‐3), glucose‐6‐phosphate dehydrogenase (G6PD), X‐inactive specific transcript (X‐ist) and Heat shock protein 70.1 (Hsp) using semi‐quantitative endpoint reverse transcriptase‐PCR in male and female, day‐7 and 8 embryos. The relative abundance (RA) of Glut‐3 was higher for day‐7 male than female embryos, and day‐7 embryos derived from unsorted compared with sex‐sorted sperm. The RA of G6PD was higher for embryos derived from unsorted than sex‐sorted sperm, and for day‐8 female compared with male embryos. The RA of Xist was higher for female than male embryos, and for day‐7 female embryos derived from unsorted than sex‐sorted sperm. Hsp RA was higher for female compared with male embryos, was similar for day‐7 and 8 embryos, and unsorted and sex‐sorted sperm derived embryos. These results demonstrate differential expression of developmentally important genes between male and female embryos, and embryos derived from unsorted and sex‐sorted sperm. Mol. Reprod. Dev. 74: 931–940, 2007. © 2007 Wiley‐Liss, Inc.
Expression of follicle stimulating hormone and luteinizing hormone receptors during follicular growth in the domestic cat ovary
Authors: Saint‐Dizier Marie , Malandain Elise , Thoumire Sandra , Remy Benoit , Chastant‐Maillard Sylvie 
Published: January 2007

AbstractIn order to better understand the pituitary regulation of follicular growth in the domestic cat, follicle stimulating hormone (FSH) and luteinizing hormone (LH) receptors (R) were localized and quantified in relation to follicle diameter and atresia using in situ ligand binding on ovarian sections. Expression of FSHR was homogeneous and restricted to follicle granulosa cells from the early antral stage onwards, whereas expression of LHR was heterogeneous on theca cells of all follicles from the early antral stage onward, and homogeneous on granulosa cells of healthy follicles larger than 800 µm in diameter and in corpora lutea. LHR were also widely expressed as heterogeneous aggregates in the ovarian interstitial tissue. Atretic follicles exhibited significantly reduced levels of both FSHR and LHR on granulosa cells, compared with healthy follicles whatever the follicular diameter, whereas levels of LHR on theca cells were lower only for atretic follicles larger than 1,600 µm in diameter. In healthy follicles, levels of FSHR and LHR in all follicular compartments increased significantly with diameter. Although generally comparable to that observed in other mammals, the expression pattern of gonadotropin receptors in the cat ovary is characterized by an early acquisition of LHR on granulosa cells of growing follicles and islets of LH binding sites in the ovarian interstitial tissue. Mol. Reprod. Dev. 74: 989–996, 2007. © 2007 Wiley‐Liss, Inc.
Determining Rayleigh damping parameters of soils for finite element analysis
Authors: Ju Shen‐Haw , Ni Sheng‐Huoo 
Published: January 2007

AbstractSoil damping ratio is an important parameter for modelling the dynamic behaviour of soil embankment structures, especially for the micro‐vibration analysis of hospitals and high‐tech industries, which have a very severe construction requirement for vibration. This paper explores using a least‐squares method to evaluate the Rayleigh damping parameters for the finite element analysis of wave propagation in soils. The least‐squares method was first used in Bornitz's equation to calculate the absorption coefficients of soils. Afterward, the best‐fit Rayleigh damping parameters were obtained using those coefficients in the least‐squares scheme again. Both three‐dimensional finite element analyses and field experiments were performed to validate the accuracy of this method. The comparison between experimental and finite element results demonstrates that the accuracy of this least‐squares method is acceptable. Copyright © 2007 John Wiley & Sons, Ltd.
Application of enhanced assumed strain finite element method to predict collapse loads of undrained geotechnical problems
Authors: Zhou X. X. , Chow Y. K. , Leung C. F. 
Published: January 2007

AbstractMany low‐order displacement‐based finite elements with exact integration are not suitable for estimating collapse loads of undrained geotechnical problems, especially for axisymmetric cases. As a result, higher‐order elements have to be used for these situations. In this technical note, the enhanced assumed strain (EAS) finite element method proposed by Simo and Rifai for elasticity problems are extended to plasticity problems to determine collapse loads. The numerical results for the problem of a smooth rigid surface footing on a deep purely cohesive undrained soil layer are given. It is demonstrated that the four‐noded quadrilateral EAS finite element is capable of estimating the collapse loads accurately for both undrained plane strain and axisymmetric problems. Copyright © 2007 John Wiley & Sons, Ltd.
Bladder outlet obstruction index and maximal flow rate during urodynamic study as powerful predictors for the detection of urodynamic obstruction in women
Authors: Gravina Giovanni Luca , Costa Alessia Mariagrazia , Ronchi Piero , Paradiso Galatioto Giuseppe , Gualà Luana , Vicentini Carlo 
Published: January 2007

AbstractAimsTo evaluate whether bladder outlet obstruction index (BOOI), a mathematical index of outlet resistance, in association with maximal flow rate (Qmax) obtained during multichannel urodynamics (UDS) or detrusor pressure at maximal flow rate (PdetQmax) could help the identification of obstruction in women.MethodsFrom January 2004 to February 2005, 401 women were assessed in our urodynamic unit. Of these, 133 were neurologically intact women, referred symptoms suggestive of voiding disorders and had an abnormal non‐intubated uroflussometry (NIF) (BOO group). A normal NIF was defined as a bell‐shaped curve in presence of a Qmax >15 ml/sec and a PVR <50 ml. Symptoms of voiding disorders were ascertained by interview and rated positive if they occurred more than occasionally. Thirty‐seven women were enrolled as unobstructed if they presented a normal NIF and symptoms suggestive of voiding disorders less than occasionally (unobstructed group).ResultsROC curve demonstrated similar diagnostic accuracy in the diagnosis of urodynamic obstruction for Qmax obtained during UDS (AUC = 0.908; P < 0.0001; CI99% = 0.831 to 0.985) and BOOI (AUC = 0.879; P < 0.0001; CI99% = 0.794 to 0.918) and the least was seen for PdetQmax (AUC = 0.706; P = 0.001; CI99% = 0.620 to 0.830). A Qmax obtained during UDS cut‐off ≤15 ml/sec provides specificity of 85.9% and sensitivity of 78.9%. A BOOI cut‐off ≥−8 provides a sensitivity of 80.8% and specificity of 86.1%. The weakest sensitivity (64.2%) and specificity (64.6%) was recorded for PdetQmax ≥28 cmH2O.ConclusionsBOOI and Qmax obtained during UDS appears to be the most discriminating urodynamic parameters of female BOO. The use of these cutoff might facilitate the identification of women with functional and anatomical obstruction. Neurourol. Urodynam. 26:247–253, 2007. © 2007 Wiley‐Liss, Inc.
Performance evaluation of distributed multiple home agents with HAHA protocol
Authors: Lee Jong‐Hyouk , Chung Tai‐Myoung 
Published: January 2007

AbstractMobile IPv6 (MIPv6) is a protocol that supports mobility of mobile nodes (MNs) within the IPv6 environment. However, the current MIPv6 supports insufficient mobility of MNs. If an MN is moved away from the home link, it takes time for the MN to make a registration and binding update at the home agent (HA). Moreover, the Dynamic Home Agent Address Discovery (DHAAD) mechanism in MIPv6 is too slow for the MN to recover when its HA fails. To solve these two problems, we propose a Distributed Multiple Home Agents (DMHA) scheme. This scheme allows an MN to perform a binding update with the nearest HA, so that the delay in the binding update process can be reduced. It also reduces the fault rate of handoff up to about 55.5% based on the same network parameters. Numerical results presented in this paper show that our scheme has superior performance compared to the standard scheme. Copyright © 2007 John Wiley & Sons, Ltd.
Stabilized rounded addition of hierarchical matrices
Authors: Bebendorf M. , Hackbusch W. 
Published: January 2007

AbstractThe efficiency of hierarchical matrices is based on the approximate evaluation of usual matrix operations. The introduced approximation error may, however, lead to a loss of important matrix properties. In this article we present a technique which preserves the positive definiteness of a matrix independently of the approximation quality. The importance of this technique is illustrated by an elliptic mixed boundary value problem with tiny Dirichlet part. Copyright © 2007 John Wiley & Sons, Ltd.
XFEM‐based crack detection scheme using a genetic algorithm
Authors: Rabinovich Daniel , Givoli Dan , Vigdergauz Shmuel 
Published: January 2007

AbstractA new computational tool is developed for the accurate detection and identification of cracks in structures, to be used in conjunction with non‐destructive testing of specimens. It is based on the solution of an inverse problem. Based on some measurements, typically along part of the boundary of the structure, that describe the response of the structure to vibration in a chosen frequency or a combination of frequencies, the goal is to estimate whether the structure contains a crack, and if so, to find the parameters (location, size, orientation and shape) of the crack that produces a response closest to the given measurement data in some chosen norm. The inverse problem is solved using a genetic algorithm (GA). The GA optimization process requires the solution of a very large amount of forward problems. The latter are solved via the extended finite element method (XFEM). This enables one to employ the same regular mesh for all the forward problems. Performance of the method is demonstrated via a number of numerical examples involving a cracked flat membrane. Various computational aspects of the method are discussed, including the a priori estimation of the ill‐posedness of the crack identification problem. Copyright © 2007 John Wiley & Sons, Ltd.
Implementation aspects of the bridging scale method and application to intersonic crack propagation
Authors: Farrell David E. , Park Harold S. , Liu Wing Kam 
Published: January 2007

AbstractThe major purpose of this work is to investigate the performance of the bridging scale method (BSM), a multiscale simulation framework for the dynamic, concurrent coupling of atomistics to continua, in capturing shear‐dominant failure. The shear‐dominant failure process considered in this work is intersonic crack propagation along a weak plane in an elastic material, similar to the seminal molecular dynamics (MD) simulations by Abraham and Gao (Phys. Rev. Lett. 2000; 84(14):3113–3116). We show that the BSM simulations accurately capture the essential physics of the intersonic crack propagation, including the formation of a daughter crack and the sudden acceleration of the crack to a velocity exceeding the material shear wave speed. It is also demonstrated that the non‐reflecting boundary condition can adequately dissipate the strongly localized wave formed by the Mach cone after the crack accelerates beyond the material shear wave speed. Finally, we provide the algorithm for our implementation of the BSM, as well as the code used to determine the damping kernels via a newly adopted technique which is less expensive than previous methods. Copyright © 2007 John Wiley & Sons, Ltd.
Optimism and life events as predictors of fear appraisals in mothers of children undergoing hematopoietic stem cell transplantation
Authors: DuHamel Katherine N. , Rini Christine , Austin Jane , Ostroff Jamie , Parsons Susan , Martini Richard , Williams Sharon , Mee Laura , Sexson Sandra , Winkel Gary , Boulad Farid , Redd William H. , Manne Sharon 
Published: January 2007

AbstractAlthough mothers' fear appraisals about their child's future health and well‐being affect their own psychological adjustment to their child's hematopoietic stem cell transplantation (HSCT), little is known about antecedents of maternal fear appraisals. This longitudinal study investigated several potential antecedents of these fear appraisals: maternal optimism, recent negative life events, lifetime history of traumatic events, and medical characteristics of the child's disease and HSCT course. One hundred‐forty mothers were interviewed during their child's hospitalization for HSCT and at 3‐and 6‐months post‐HSCT. Structural equation modeling was used to test a model of hypothesized relations. Consistent with predictions, lower optimism and a greater number of negative life events were independently associated with greater maternal fear appraisals. Contrary to expectations, lifetime history of trauma was not associated with maternal fear appraisals. Mothers' fear appraisals during their child's hospitalization were, in turn, associated with their fear appraisals up to 6 months later. These data identify a subset of mothers who may be particularly in need of an intervention to increase optimistic coping strategies, improve coping with negative life events, and reduce fear appraisals to improve their adjustment following their child's HSCT. Copyright © 2007 John Wiley & Sons, Ltd.
Investigation of an albumin‐enriched fraction of human serum and its albuminome
Authors: Gundry Rebekah L. , Fu Qin , Jelinek Christine A. , Van Eyk Jennifer E. , Cotter Robert J. 
Published: January 2007

AbstractThe removal of albumin and other high abundance proteins is a routine first step in the analysis of serum and plasma proteomes. However, as albumin can bind proteins and peptides, there is a universal concern as to how the serum proteome is changed by the removal of albumin. To address this concern, the current study was designed to identify proteins and peptides removed from the serum during albumin depletion; to determine which of these are bound to albumin (rather than copurified) and whether the bound proteins are intact proteins or peptide fragments. Sequential, independent analyses including both anti‐albumin antibody (anti‐HSA) affinity chromatography and SEC were used to isolate albumin‐bound proteins. RP‐HPLC and 1‐D SDS‐PAGE were then used to further separate the proteins prior to identification by MS/MS. Finally, whole protein molecular weight (MW) MS measurements coupled with protein coverage obtained by MS were combined to assess whether the bound proteins were intact or peptide fragments. Combining the results from multiple approaches, 35 proteins, of which 24 are intact, were found to be associated with albumin, and they include both known high and low abundance proteins.
DNA methylation and immunohistochemical analysis of the S100A4 calcium binding protein in human prostate cancer
Authors: Rehman Ishtiaq , Goodarzi Amin , Cross Simon S. , Leiblich Aaron , Catto James W.F. , Phillips Joshua T. , Hamdy Freddie C. 
Published: January 2007

AbstractBACKGROUNDThe role of DNA methylation in the transcriptional regulation of S100A4 is unknown in human prostate cancer.METHODSCritical CpG sites within intron 1 of S100A4 were sequenced in DNA obtained from prostatic adenocarcinoma, non‐malignant epithelium, and prostate cancer cell lines. S100A4 protein expression was assessed by immunohistochemistry and Western blotting.RESULTSMethylation was seen in all cases of cancer, non‐malignant epithelium, and in prostate cancer cell lines, but was absent in all cases of blood DNA. S100A4 immunoexpression was absent in all cases of malignant and non‐malignant epithelium, while strong–moderate expression was seen in the stroma and lymphocytes. Western blotting showed absent S100A4 expression in LNCaP and Du145 cells and low levels in PC‐3 cells.CONCLUSIONSS100A4 protein is not expressed in benign or malignant prostatic epithelium nor in LNCaP and Du145 cells. The mechanism underlying absent S100A4 expression in prostatic epithelium and cell lines may involve methylation. Prostate 67: 341–347, 2007. © 2007 Wiley‐Liss, Inc.