bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paradoxical aspects of parkinsonian tremor
Authors: Fishman Paul S. 
Published: October 2007

AbstractAlthough resting tremor is the most identifiable sign of Parkinson's disease, its underlying basis appears to be the most complex of the cardinal signs. The variable relationship of resting tremor to other symptoms of PD has implications for diagnosis, prognosis, medical and surgical treatment. Structural lesions very rarely cause classic resting tremor, with likely contributions to tremor by a network of neurons both within and outside the basal ganglia. Patients with only resting tremor show dopaminergic deficits with radioligand imaging, but severity of tremor correlates poorly in such dopamine imaging studies. Correlation of tremor severity to changes in radioligand studies is also limited by the use of mostly qualitative measures of tremor severity. A complex pharmacologic basis of parkinsonian resting tremor is supported by treatment studies. Although levodopa is clearly effective for resting tremor, several agents have shown efficacy that appears to be superior or additive to that of levodopa including anticholinergics, clozapine, pramipexole, and budipine. Although the thalamus has the greatest body of evidence supporting its role as an effective target for surgical treatment of tremor, recent studies suggest that the subthalamic nucleus may be a reasonable alternative target for patients with Parkinson's disease and severe tremor as the predominant symptom. © 2007 Movement Disorder Society
Morphometric changes of gray matter in Parkinson's disease with depression: A voxel‐based morphometry study
Authors: Feldmann Adam , Illes Zsolt , Kosztolanyi Peter , Illes Eniko , Mike Andrea , Kover Ferenc , Balas Istvan , Kovacs Norbert , Nagy Ferenc 
Published: October 2007

AbstractThe origin of the high rate of depression in idiopathic Parkinson's disease (PD) is unknown. We applied voxel‐based morphometry (VBM), as a sensitive tool in detection of gray matter MR density alterations, to find differences in depressed and nondepressed PD patients. Patients with idiopathic PD were classified into depressed (DPD) and nondepressed (NDPD) groups based on the Montgomery‐Åsberg Depression Rating Scale (MADRS). Subsequently, a group comparisons were performed between depressed PD (n = 23), nondepressed PD (n = 27) and normal healthy controls (NC, n = 16). There was no difference in gray matter density comparing healthy controls to any PD groups. However, when NDPD and DPD cohorts were compared, density alteration of the bilateral orbitofrontal, bilateral rectal gyrus, and also the right superior temporal pole was detected in the depressed subgroup. Exploratory analyses revealed an inverse correlation of MADRS scores and severity of VBM alteration in these regions beside the right medial temporal gyrus, anterior and medial cingular gyrus, and parahippocampal gyrus. These results suggest that depression in PD is related to gray matter decrease in the bilateral orbitofrontal and right temporal regions as well as the limbic system. © 2007 Movement Disorder Society
Motion analysis of a child with Niemann–Pick disease type C treated with miglustat
Authors: Paciorkowski Alex R. , Westwell Melany , Õunpuu Sylvia , Bell Katharine , Kagan Jeanne , Mazzarella Cindy , Greenstein Robert M. 
Published: October 2007

AbstractNiemann–Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. This article describes the use of computerized three‐dimensional motion analysis to evaluate a 3‐year‐old child with NPC treated with miglustat for 12 months. Motion analysis provided quantitative data on the patient's gait. However, dementia and motor dysfunction progressed despite the treatment, and the patient lost the ability to walk between 9 and 12 months of the study. Motion analysis should be considered among the tools for measuring functional outcomes in future therapeutical trials of patients with neurodegenerative diseases. It is not possible to draw conclusions about miglustat therapy in NPC from a single patient experience. © 2007 Movement Disorder Society
Pallidal deep brain stimulation improves quality of life in segmental and generalized dystonia: Results from a prospective, randomized sham‐controlled trial
Authors: Mueller Joerg , Skogseid Inger M. , Benecke Reiner , Kupsch Andreas , Trottenberg Thomas , Poewe Werner , Schneider Gerd H. , Eisner Wilhelm , Wolters Alexander , Müller J.U. , Deuschl Günther , Pinsker Marcus O. , Roeste Geir K. , Vollmer‐Haase Juliane , Brentrup Angela , Krause Martin , Tronnier Volker , Schnitzler Alfons , Voges Jüergen , Nikkhah Guido , Vesper Jan , Naumann Markus , Volkmann Jens ,   Deep‐Brain Stimulation for Dystonia Study Group
Published: October 2007

AbstractAs part of the first randomized, sham‐timulation controlled trial on deep brain stimulation (DBS) in primary segmental or generalized dystonia, health‐related quality of life (HRQoL) was assessed by SF‐36. After the 3‐month sham‐controlled phase, significant HRQoL improvement occurred only in the active‐stimulation group. The open‐label extension phase resulted in a significant improvement in all SF‐36 domains following 6 months of neurostimulation. These results demonstrate a favorable impact of DBS on HRQoL in primary dystonia. © 2007 Movement Disorder Society
Talk the walk: The importance of teaching patients how to use their walking stick effectively and safely
Authors: Sheehan Nicholas J. , Millicheap Pat 
Published: October 2007

AbstractBackground: Walking sticks are used widely by people with arthritis, principally to reduce pain and improve stability and balance. However, they are frequently used incorrectly and can be dangerous if not properly maintained.Methods: Fifty randomly selected patients attending a rheumatology department were surveyed to determine whether their stick was appropriate to their needs and whether they were using it correctly.Results: Of the 50 patients, 38% used their stick incorrectly, usually in the wrong hand. Forty‐four per cent of sticks were of the wrong length and 54% were in imperfect condition, the main defect being a worn ferrule. Among the minority (18 patients) who had received instruction and training, 72% used their stick correctly, while only 50% of those who had not been trained used their stick in the correct hand where applicable to their condition.Conclusions: These findings highlight the importance of educating patients on how to obtain greatest benefit from their walking stick and of the necessity to check it regularly for defects to ensure safe usage.
Radial basis collocation method and quasi‐Newton iteration for nonlinear elliptic problems
Authors: Hu H.Y. , Chen J.S. 
Published: October 2007

AbstractThis work presents a radial basis collocation method combined with the quasi‐Newton iteration method for solving semilinear elliptic partial differential equations. The main result in this study is that there exists an exponential convergence rate in the radial basis collocation discretization and a superlinear convergence rate in the quasi‐Newton iteration of the nonlinear partial differential equations. In this work, the numerical error associated with the employed quadrature rule is considered. It is shown that the errors in Sobolev norms for linear elliptic partial differential equations using radial basis collocation method are bounded by the truncation error of the RBF. The combined errors due to radial basis approximation, quadrature rules, and quasi‐Newton and Newton iterations are also presented. This result can be extended to finite element or finite difference method combined with any iteration methods discussed in this work. The numerical example demonstrates a good agreement between numerical results and analytical predictions. The numerical results also show that although the convergence rate of order 1.62 of the quasi‐Newton iteration scheme is slightly slower than rate of order 2 in the Newton iteration scheme, the former is more stable and less sensitive to the initial guess. © 2007 Wiley Periodicals, Inc. Numer Methods Partial Differential Eq, 2008
Multiple genetic and epigenetic biomarkers for lung cancer detection in cytologically negative sputum and a nested case–control study for risk assessment
Authors: Hsu H‐S , Chen T‐P , Wen C‐K , Hung C‐H , Chen C‐Y , Chen J‐T , Wang Y‐C 
Published: October 2007

AbstractThe purpose of this study was to define a biomarker panel for detection of cancer cells in cytologically negative sputum and to evaluate the panel for assessment of lung cancer risk. We examined 19 genetic and epigenetic markers using a sensitive fluorescence‐based method in cytologically negative sputum and in lung tumour tissues from 82 lung cancer patients. We also used these markers to test the sputum of 37 cancer‐free individuals who were matched by age, sex, and smoking habit. Based on the concordance of biomarkers in lung tumours and corresponding sputum, and the low prevalence in cancer‐free individuals, we selected seven markers for a nested case–control study: microsatellite instability of D9S942; loss of heterozygosity of D9S286, D9S942, GATA49D12, and D13S170; and methylation of p16INK4a and RARβ. Based on the assumption that a lung cancer cell has alterations in two or more of the seven biomarkers, we compared the pattern of biomarker alteration in lung tumours and corresponding sputum. Our comparison yielded a sensitivity of 82%, specificity of 75%, and concordance of 79%. Three cancer‐free individuals were considered to have an elevated risk based on the criterion that their sputum showed alteration in two of the seven biomarkers. One individual was indeed diagnosed as having lung cancer 18 months after sputum collection. In the nested case–control study, six biomarkers showed significantly increased odds ratios ranging from 3.14 to 11.24. Our study defines a biomarker panel for detection of cancer cells in cytologically negative sputum and verifies its use for risk assessment of lung cancer. In combination with conventional diagnostic tools, this multiple genetic and epigenetic panel should improve the detection or risk assessment of lung cancer. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Loss of PL6 protein expression in renal clear cell carcinomas and other VHL‐deficient tumours
Authors: Ivanova AV , Vortmeyer A , Ivanov SV , Nickerson ML , Maher ER , Lerman MI 
Published: October 2007

AbstractMutations in the von Hippel–Lindau tumour suppressor gene (VHL) cause the VHL hereditary cancer syndrome and occur in most sporadic clear cell renal cell cancers (CC‐RCCs). The mechanisms by which VHL loss of function promotes tumour development in the kidney are not fully elucidated. Here, we analyse expression of PL6, one of the potential tumour suppressor genes from the critical 3p21.3 region involved in multiple common cancers. We classify PL6 as a Golgi‐resident protein based on its perinuclear co‐localization with GPP130 in all cells and tissues analysed. We show that PL6 RNA and protein expression is completely or partially lost in all analysed CC‐RCCs and other VHL‐deficient tumours studied, including the early precancerous lesions in VHL disease. The restoration of VHL function in vitro in the VHL‐deficient CC‐RCC cell lines was found to reinstate PL6 expression, thus establishing a direct link between VHL and PL6. Insensitivity of PL6 to hypoxia suggested that PL6 is regulated by VHL via a HIF‐1‐independent pathway. We ruled out mutations and promoter methylation as possible causes of PL6 down‐regulation in CC‐RCC. We hypothesize that loss of a putative PL6 secretory function due to VHL deficiency is an early and important event that may promote tumour initiation and growth. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
The basal‐like breast carcinoma phenotype is regulated by SLUG gene expression
Authors: Storci G , Sansone P , Trere D , Tavolari S , Taffurelli M , Ceccarelli C , Guarnieri T , Paterini P , Pariali M , Montanaro L , Santini D , Chieco P , Bonafé M 
Published: October 2007

AbstractBasal‐like breast carcinoma is an aggressive form of breast cancer, characterized by the absence of oestrogen receptor and HER2 expression, the presence of cytokeratin 5 and epidermal growth factor receptor expression, and by the up‐regulation of stem cell regulatory genes. We show here that tumour tissues expressing high levels of SLUG mRNA show a basal‐like breast carcinoma phenotype and that such tumours also express high levels of stem cell‐regulatory genes, ie CD133, Bmi1. Further, we show that stem/progenitor cells, isolated from ductal breast carcinoma and from normal mammary gland as mammospheres, express SLUG, CD133, and Bmi1 mRNA and show a phenotype similar to that of basal‐like breast carcinoma. We also report that SLUG expression in tumour tissues correlates with that of the hypoxia survival gene carbonic anhydrase IX. In this regard, we report that the exposure of SLUG‐negative/luminal‐like MCF‐7 cells to a hypoxic environment promotes the onset of the basal‐like breast carcinoma phenotype, together with up‐regulation of the SLUG gene, which in turn blunts oestrogen receptor‐α and boosts carbonic anhydrase IX gene expression. Finally, we show that SLUG expression promotes the invasiveness of MCF‐7 cells exposed to hypoxia and sustains the in vivo aggressiveness of hypoxia‐selected, MCF‐7‐derived cells in xenografts. These data indicate that SLUG gene expression is part of a hypoxia‐induced genetic programme which sets up a basal/stem cell‐like, aggressive phenotype in breast cancer cells. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
The CD30 gene promoter microsatellite binds transcription factor Yin Yang 1 (YY1) and shows genetic instability in anaplastic large cell lymphoma
Authors: Franchina M , Woo AJ , Dods J , Karimi M , Ho D , Watanabe T , Spagnolo DV , Abraham LJ 
Published: October 2007

AbstractCD30 is a member of the TNF receptor family. Our interest lies in understanding the control of CD30 expression, particularly as its over‐expression provides a diagnostic marker for a subset of non‐Hodgkin's lymphomas, particularly anaplastic large cell lymphoma (ALCL), and because anti‐CD30 treatment has been shown to be efficacious. We have identified a number of regulatory regions, including an Sp1 element in the minimal promoter, and a downstream promoter element that is required for start site selection. The discovery of both an activating AP1 site and an upstream microsatellite that represses transcriptional activity of CD30 suggests that this region is involved in dysregulation of CD30 expression. We have now identified the major microsatellite binding activity as transcription factor Yin Yang 1 by both one‐hybrid cDNA library screening and peptide mass fingerprinting. Due to the strong repressive effect of the microsatellite, we also investigated whether microsatellite instability may induce changes in CD30 expression and hence explain the over‐expression of CD30 in ALCL. Laser capture microdissection of ALCL biopsies and CD30 microsatellite typing indicated that the neoplastic cells show a high degree of variation, but this does not correlate with high CD30 expression seen in ALCL. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Macrophage involvement in the kidney repair phase after ischaemia/reperfusion injury
Authors: Vinuesa E , Hotter G , Jung M , Herrero‐Fresneda I , Torras J , Sola A 
Published: October 2007

AbstractMacrophage infiltration is a common feature of the early phase of renal ischaemia/reperfusion injury. Indeed, it is generally regarded as the cause of tissue injury in this phase, although it is also clear that it can lead to tissue repair in other phases. In order to ascertain whether macrophages are directly involved in the repair/late phase, which follows the pro‐inflammatory and injury process of renal ischaemia/reperfusion, we used two different approaches based on macrophage depletion. Firstly, we produced renal ischaemia in mice that were previously treated with clodronate liposome. Secondly, during reperfusion we re‐injected RAW 264.7 to macrophage‐depleted mice 24 h prior to sacrifice. The results showed that regeneration, as evaluated by stathmin and PCNA markers, was macrophage‐dependent: it was blocked when macrophage depletion was provoked and recovered with macrophage re‐injection. The cytokine profile revealed the influence of the inflammatory environment on kidney repair: pro‐inflammatory cytokines (MCP‐1, MIP‐1α) increased during the early stages of reperfusion, coinciding with low regeneration, and the anti‐inflammatory cytokine IL‐10 increased during the longer periods of reperfusion when regeneration was more evident. We conclude that macrophages induce renal regeneration after ischaemia/reperfusion, depending on the inflammatory milieu. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Haematopoietic antigen‐presenting cells in the human thymic cortex: evidence for a role in selection and removal of apoptotic thymocytes
Authors: Paessens LC , Fluitsma DM , van Kooyk Y 
Published: October 2007

AbstractOnly a small proportion of thymocytes survive T cell selection in the thymus and leave the thymus as mature T cells. The vast majority of thymocytes undergo cell death during selection, either due to failure to undergo positive selection on self peptide‐MHC presented by thymic antigen presenting cells (APC) or due to negative selection. In the murine thymus it has been shown that most thymocytes that fail selection undergo apoptosis in the thymic cortex and are removed by cortical macrophages. However, it is unknown how apoptotic thymocytes are cleared from the cortex of the human thymus. Here we report the identification of antigen‐presenting cells of haematopoietic origin (hAPCs) by expression of dendritic cell (DC) specific C‐type lectin DC‐SIGN (CD209) in the cortex of the human thymus, and show that these cells exhibit features of both immature DCs and macrophages. The analysis of cellular markers, in particular the expression of the molecular chaperone HLA‐DM, on cortical hAPCs further suggests that these hAPCs may participate in selection of thymocytes in the cortex. Using in situ terminal deoxynucleotidyl transferase dUTP nick end labelling (TUNEL), we demonstrated that these cortical hAPCs are surrounded by apoptotic, TUNEL+ thymocytes in situ. Futhermore, in situ immuno‐cryo‐electron microscopy suggests that cortical hAPCs take up and remove apoptotic thymocytes. Thus, DC‐SIGN+ hAPCs in the human thymic cortex appear to function in thymocyte selection and removal of apoptotic thymocytes from the thymic cortex. Copyright © 2007 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Sickle cell disease complicated by post‐streptococcal glomerulonephritis, cerebral hemorrhage and reversible posterior leucoencephalopathy syndrome
Authors: Pashankar Farzana D. , Ment Laura R. , Pearson Howard A. 
Published: October 2007

AbstractA patient with homozygous hemoglobin SS disease presented with an intracerebral hemorrhage complicating reversible posterior leucoencephalopathy syndrome (RPLS), secondary to hypertension associated with acute post‐streptococcal glomerulonephritis (APSGN). Distinguishing potentially reversible causes of central nervous system events from primary cerebral infarction or hemorrhage in patients with sickle cell disease is important because the management and prognosis of these complications is very different. Similarly, because of the difference in prognosis between APSGN and other forms of sickle cell nephropathy, it is also important to differentiate these conditions. Pediatr Blood Cancer 2008;50:864–866. © 2007 Wiley‐Liss, Inc.
Skeletal Langerhans cell histiocytosis in children: Permanent consequences and health‐related quality of life in long‐term survivors
Authors: Lau Loretta MS , Stuurman Kyra , Weitzman Sheila 
Published: October 2007

AbstractBackgroundThe skeleton is the most frequently involved organ in Langerhans cell histiocytosis (LCH) in children, and bone LCH generally has an excellent long‐term survival. Although permanent consequences (PC) are described in half of the survivors thus raising concerns for quality of life (QOL), the impact on quality of life has not been formally studied.MethodsA retrospective review was performed on 124 LCH patients with skeletal involvement, followed by prospective evaluation of PC and health‐related QOL using age‐appropriate validated study tools (PedsQL or SF‐36).ResultsOf the 116 survivors, PC were found in 34 (29%) patients, of whom 8 had more than 1 PC. PC were significantly more frequent in multi‐system (M‐S) than in single system (S‐S) LCH (73% vs. 17%; P < 0.0001). While diabetes insipidus (65%) was the most common PC in M‐S LCH, cosmetic and orthopedic problems made up the majority of PC in S‐S LCH. The median follow‐up time was 8.5 years. 27 patients completed the PedsQL survey and 22 the SF‐36 survey. The QOL scores for LCH patients were not significantly different from healthy children in the PedsQL survey and from young adults in the SF‐36 survey. In addition, the QOL scores were very similar between patients with and without PC and between patients with M‐S and S‐S LCH.ConclusionsChildren with M‐S LCH had a significantly higher risk of developing PC. Skeletal LCH did not adversely affect the quality of life of survivors, including those with PC who appeared to adapt to their disabilities and medical problems. Pediatr Blood Cancer 2008;50:607–612. © 2007 Wiley‐Liss, Inc.
Radiation and chemotherapy combination for nasopharyngeal carcinoma in children: Radiotherapy dose adaptation after chemotherapy response to minimize late effects
Authors: Orbach Daniel , Brisse Hervé , Helfre Sylvie , Klijanienko Jerzy , Bours Danielle , Mosseri Véronique , Rodriguez José 
Published: October 2007

AbstractObjectivesTo retrospectively report the clinical and therapeutic features of children with nasopharyngeal carcinoma (NPC) treated by chemotherapy and doses adapted of radiotherapy.Patients and MethodsFrom 1978 to 2005, 34 children were treated for NPC. All histologic and/or cytologic samples and CT scans were reviewed. Cervical nodal irradiation was reduced (<50 Gy) in the case of a good response to chemotherapy (≥90% of initial tumor volume).ResultsThirty‐two children had metastatic cervical nodes and one child had systemic metastases at diagnosis. All children had AJJC‐TNM Stage IV. Thirty‐one children received neoadjuvant chemotherapy with various regimens. The overall chemotherapy response rate was 78%. Fifteen patients had cervical nodal irradiation dose reduced: Median 47 Gy (range: 45–50). Nasopharyngeal radiotherapy was delivered at a dose of 59.4 Gy (range: 45–66). Local and distant failure rates were 10% and 18%, respectively. The 5‐year overall survival was 73 ± 8% and the event‐free survival (EFS) was 75 ± 8%.ConclusionsThe overall prognosis was not influenced by TNM status, dose of local radiotherapy delivered or response to initial chemotherapy, but EFS was better in patients with a good response to chemotherapy. The cervical local failure rate was low despite radiotherapy dose reduction in the case of a good response to neoadjuvant chemotherapy. We also propose a reduction of nasopharyngeal radiation (≤50 Gy) in the case of good response to initial chemotherapy. Pediatr Blood Cancer 2008;50:849–853. © 2007 Wiley‐Liss, Inc.