bluuebunny/crossref_metadata_2025_split huggingface dataset:
Responsiveness to levodopa in epsilon‐sarcoglycan deletions
Authors: Luciano Marta San , Ozelius Laurie , Sims Katherine , Raymond Deborah , Liu Liu , Saunders‐Pullman Rachel 
Published: January 2009

AbstractMyoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society
FGF20 and Parkinson's disease: No evidence of association or pathogenicity via α‐synuclein expression
Authors: Wider Christian , Dachsel Justus C. , Soto Alexandra I. , Heckman Michael G. , Diehl Nancy N. , Yue Mei , Lincoln Sarah , Aasly Jan O. , Haugarvoll Kristoffer , Trojanowski John Q. , Papapetropoulos Spiridon , Mash Deborah , Rajput Alex , Rajput Ali H. , Gibson J. Mark , Lynch Timothy , Dickson Dennis W. , Uitti Ryan J. , Wszolek Zbigniew K. , Farrer Matthew J. , Ross Owen A. 
Published: January 2009

AbstractGenetic variation in fibroblast growth factor 20 (FGF20) has been associated with risk of Parkinson's disease (PD). Functional evidence suggested the T allele of one SNP, rs12720208 C/T, altered PD risk by increasing FGF20 and α‐synuclein protein levels. Herein we report our association study of FGF20 and PD risk in four patient‐control series (total: 1,262 patients and 1,881 controls), and measurements of FGF20 and α‐synuclein protein levels in brain samples (nine patients). We found no evidence of association between FGF20 variability and PD risk, and no relationship between the rs12720208 genotype, FGF20 and α‐synuclein protein levels. © 2009 Movement Disorder Society
Clinically deployable Kinesia™ technology for automated tremor assessment
Authors: Giuffrida Joseph P. , Riley David E. , Maddux Brian N. , Heldman Dustin A. 
Published: January 2009

AbstractThe objective was to design, build, and assess Kinesia™, a wireless system for automated assessment of Parkinson's disease (PD) tremor. The current standard in evaluating PD is the Unified Parkinson's Disease Rating Scale (UPDRS), a qualitative ranking system typically completed during an office visit. Kinesia integrates accelerometers and gyroscopes in a compact patient‐worn unit to capture kinematic movement disorder features. Objectively quantifying PD manifestations with increased time resolution should aid in evaluating efficacy of treatment protocols and improve patient management. In this study, PD subjects performed the tremor subset of the UPDRS motor section while wearing Kinesia. Quantitative kinematic features were processed and highly correlated to clinician scores for rest tremor (r2 = 0.89), postural tremor (r2 = 0.90), and kinetic tremor (r2 = 0.69). The quantitative features were used to develop a mathematical model that predicted tremor severity scores for new data with low errors. Finally, PD subjects indicated high clinical acceptance. © 2009 Movement Disorder Society
Psychotic and compulsive symptoms in Parkinson's disease
Authors: Verbaan Dagmar , van Rooden Stephanie M. , Visser Martine , Marinus Johan , Emre Murat , van Hilten Jacobus J. 
Published: January 2009

AbstractThe objective of this study is to evaluate psychiatric symptoms in Parkinson's disease (PD) patients and to assess their relation with other clinical aspects of PD. Psychotic symptoms (PS) and compulsive symptoms (CS) as well as other nonmotor and motor features were evaluated in 353 PD patients. Psychotic and compulsive symptom scores did not correlate significantly. PS occurred in 65% of patients, with item frequencies ranging from 10% (paranoid ideation) to 55% (altered dream phenomena). Regression analysis showed that autonomic impairment accounted for 20% of the 32% explained variance of PS, whereas cognitive problems, depression, daytime sleepiness, and dopamine agonist (DA) dose explained the rest. CS occurred in 19%, with item frequencies of 10% for both sexual preoccupation and compulsive shopping/gambling. Patients with more severe CS (score ≥ 2 on one or both items) were significantly more often men, had a younger age at onset, a higher DA dose and experienced more motor fluctuations compared to the other patients. PS and CS are common but unrelated psychiatric symptoms in PD. The relations found between PS and cognitive problems, depression, daytime sleepiness, and autonomic impairment suggests a resemblance with Dementia with Lewy Bodies. The prominent association between PS and autonomic impairment may be explained by a shared underlying mechanism. Our results confirm previous reports on the profile of patients developing CS, and mechanisms underlying motor fluctuations may also play a role in the development of CS in PD. © 2009 Movement Disorder Society
Orthostatic hypotension, balance and falls in Parkinson's disease
Authors: Matinolli Maarit , Korpelainen Juha T. , Korpelainen Raija , Sotaniemi Kyösti A. , Myllylä Vilho V. 
Published: January 2009

AbstractOrthostatic hypotension (OH) is a common feature in Parkinson's disease (PD). As the control of balance and gait is already affected by PD per se, OH may further predispose patients to falls and accidents. The study was conducted to evaluate the clinical correlates of OH and its association with mobility and balance in PD. From a total population of 205,000 inhabitants, 120 PD patients were included in the study. Medical data including history of recent falls were collected, and patients were clinically examined using the orthostatic test, the Timed Up & Go test, walking speed, and the quantitative measurement of postural sway. Sixty‐three (52.5%) patients had OH in the orthostatic test. Twenty‐five (39.5%) patients with and 16 (28.1%) patients without OH (P = 0.614) had fallen during the past 3 months. Patients with OH had significantly increased postural sway in standing compared with patients without OH. However, OH was not associated with mobility or walking speed. The current results support the concept that the control of body balance and OH may be closely linked. © 2009 Movement Disorder Society
A model for the analysis of competitive relaxation effects of manganese and iron in vivo
Authors: Zhang Na , Fitsanakis Vanessa A. , Erikson Keith M. , Aschner Michael , Avison Malcolm J. , Gore John C. 
Published: January 2009

AbstractManganese (Mn) and iron (Fe) are both paramagnetic species that can affect magnetic resonance relaxation rates. They also share common transport systems in vivo and thus in experimental models of metal exposure their effects on relaxation rates may interact in a complex fashion. Here we present a novel model to interpret the combined effects of Mn and Fe on MRI relaxation rates. To achieve varying levels of both metals, adult rats were separated into four groups; a control group and three groups treated with weekly intravenous injections of 3 mg Mn/kg body for 14 weeks. The three treated groups were fed either a normal diet, Fe deficient or Fe enriched diet. All rats were scanned using MRI at the 14th week to measure regional water relaxation rates. Rat brains were removed at the end of the study (14th week) and dissected into regions for measurement of Mn and Fe by atomic absorption spectroscopy. For the normal diet groups, R1 was strongly correlated with tissue Mn concentrations. However, the slopes of the linear regression fits varied significantly among different brain regions, and a simple linear model failed to explain the changes in relaxation rate when both Mn and Fe contents changed. We propose a competition model, which is based on the ability of Mn and Fe to compete in vivo for common binding sites. The combined effect of Mn and Fe on the relaxation rates is complicated and additional studies will be necessary to explain how MRI signals are affected when the levels of both metals are varied. Copyright © 2009 John Wiley & Sons, Ltd.
Novel hydrogels from diepoxy‐terminated poly(ethylene glycol)s and aliphatic primary diamines: synthesis and equilibrium swelling studies
Authors: Teodorescu Mircea , Cursaru Bogdan , Stanescu Paul , Draghici Constantin , Stanciu Nicoleta Doriana , Vuluga Dumitru Mircea 
Published: January 2009

AbstractNew hydrogels were prepared from diepoxy‐terminated poly(ethylene glycol)s of approximate molecular weights 600, 1000, 2000, and 4000 Da and aliphatic primary diamines with different numbers of carbon atoms (ethylenediamine, 1,4‐diaminobutane, hexamethylenediamine, 1,8‐octanediamine, 1,10‐decanediamine, 1,12‐dodecanediamine), in water or ethanol–water mixture, depending on the amine solubility. The swelling behavior of these gels was tested in distilled water/aqueous solution at constant temperature and the equilibrium swelling degree (ESD) was determined for structurally different hydrogels and under various environmental conditions. It was shown that ESD was influenced by the molecular weight of PEG oligomers, amine/epoxy groups mole ratio, amine chain length, temperature, pH, and concentration of salts present in the swelling medium. Higher ESDs were obtained for either longer‐chain PEGs, non‐stoichiometric amine/epoxy groups ratio, shorter amines, acidic pH, lower temperatures, or in the absence of salts. Copyright © 2009 John Wiley & Sons, Ltd.
Severe neurologic side effects in patients being treated for hemophagocytic lymphohistiocytosis
Authors: Thompson Patrick A. , Allen Carl E. , Horton Terzah , Jones Jeremy Y. , Vinks Alexander A. , McClain Kenneth L. 
Published: January 2009

AbstractBackgroundHemophagocytic Lymphohistiocytosis (HLH) is characterized by uncontrolled inflammation that is generally fatal without immune modulating chemotherapy. At Texas Children's Hospital, we have observed significant central nervous system (CNS) toxicity in several patients treated for HLH according to the Histiocyte Society protocol HLH‐2004 in which cyclosporine is given early in the treatment regimen.MethodsPatients diagnosed with HLH at Texas Children's Hospital between April 2004 and October 2007 were identified and charts were reviewed. A reference group of patients treated between August 2001 and March 2004, prior to the introduction of HLH‐2004, was also evaluated.ResultsFive of 17 patients in the study group developed severe neurotoxicity. Four had new onset seizures associated with significant MRI abnormalities, while the fifth died of intracerebral hemorrhage. Timing of the development of neurologic side effects ranged from day 5 to week 6 of therapy. Cyclosporine levels were outside the therapeutic range (200–300 ng/ml) prior to the onset of symptoms in two of the five patients. Systolic blood pressures for all five patients were greater than the 95th percentile for age on at least one measurement within 24 hr of the onset of neurologic symptoms. MRI scans obtained within 24 hr of seizure activity in four patients were consistent with posterior reversible encephalopathy syndrome (PRES). By comparison only one patient in the reference group (n = 15) had neurotoxicity (PRES).ConclusionsPatients being treated for HLH appear to be at risk for neurotoxicity, particularly PRES. Elevated blood pressure, worsening renal and liver function, increased cyclosporine levels, and CNS involvement of HLH may be triggers for the neurotoxic side effects of treatment. Patients being treated on HLH‐2004 require close monitoring of their neurologic status and modifiable risk factors such as hypertension should managed aggressively. If larger studies validate our observations, it will be important to determine if up‐front cyclosporine in HLH protocols confers a survival benefit that outweighs the potential risk of increased neurotoxicity. Pediatr Blood Cancer 2009;52:621–625. © 2009 Wiley‐Liss, Inc.
Acquired factor VII deficiency associated with Wilms tumor
Authors: Granger Jeremy , Gidvani Vinod K. 
Published: January 2009

AbstractWe present the case of a 2‐year‐old female with Wilms tumor whose initial evaluation revealed a prolonged prothrombin time (PT) and normal activated partial thromboplastin time. Mixing studies demonstrated correction of the PT and the Factor VII activity was 17% in the absence of a Factor VII inhibitor. She underwent successful resection of the tumor with fresh frozen plasma support and no excessive bleeding. Post‐operative testing demonstrated normal PT at 3 days and 1‐month. Although acquired von Willebrand factor deficiency has a known association with Wilms tumor, paraneoplastic factor VII deficiency associated with Wilms tumor is previously unreported. Pediatr Blood Cancer 2009;52:394–395. © 2008 Wiley‐Liss, Inc.
Dissimilar hepatic protein expression profiles during the acute and flow phases following experimental thermal injury
Authors: Duan Xunbao , Berthiaume François , Yarmush David M. , Yarmush Martin L. 
Published: January 2009

AbstractThe liver plays a major role in the early hypometabolic and later hypermetabolic phases after severe burn injury. Proteomic analysis was used to identify altered proteins in liver during these two phases. Sprague‐Dawley rats were subjected to a full‐thickness dorsal burn injury covering 40% of the total body surface area. Controls consisted of sham‐treated animals. Liver tissues were collected on postburn days 1 and 7. The proteomic data show greater production of positive acute phase proteins on day 1 than on day 7. Many antioxidant enzymes were coordinately downregulated on day 1, including the potent biliverdin reductase. These antioxidants were restored and in some cases upregulated on day 7. This opposite trend in the change of antioxidant proteins corroborated our finding of more pronounced oxidative stress on day 1 than on day 7 as measured via protein carbonyl content. The changes of metabolic enzymes on days 1 and 7 were consistent with hypo‐ and hyper‐metabolic states, respectively. Furthermore, a previously unreported decrease in ornithine aminotransferase on day 7 may be a key contributor to the observed increased urinary urea excretion during the hypermetabolic phase. Overall, the many differences in protein expression observed on postburn days 1 and 7 reflect the dissimilar hepatic metabolic patterns during the acute and flow phases following burn injury.
A chip‐based amide‐HILIC LC/MS platform for glycosaminoglycan glycomics profiling
Authors: Staples Gregory O. , Bowman Michael J. , Costello Catherine E. , Hitchcock Alicia M. , Lau James M. , Leymarie Nancy , Miller Christine , Naimy Hicham , Shi Xiaofeng , Zaia Joseph 
Published: January 2009

AbstractA key challenge to investigations into the functional roles of glycosaminoglycans (GAGs) in biological systems is the difficulty in achieving sensitive, stable, and reproducible mass spectrometric analysis. GAGs are linear carbohydrates with domains that vary in the extent of sulfation, acetylation, and uronic acid epimerization. It is of particular importance to determine spatial and temporal variations of GAG domain structures in biological tissues. In order to analyze GAGs from tissue, it is useful to couple MS with an on‐line separation system. The purposes of the separation system are both to remove components that inhibit GAG ionization and to enable the analysis of very complex mixtures. This contribution presents amide–silica hydrophilic interaction chromatography (HILIC) in a chip‐based format for LC/MS of heparin, heparan sulfate (HS) GAGs. The chip interface yields robust performance in the negative ion mode that is essential for GAGs and other acidic glycan classes while the built‐in trapping cartridge reduces background from the biological tissue matrix. The HILIC chromatographic separation is based on a combination of the glycan chain lengths and the numbers of hydrophobic acetate (Ac) groups and acidic sulfate groups. In summary, chip based amide‐HILIC LC/MS is an enabling technology for GAG glycomics profiling.
Multivariate analysis of single quadrupole LC‐MS spectra for routine characterization and quantification of intact proteins
Authors: Michaud François‐Thomas , Garnier Alain , Lemieux Lise , Duchesne Carl 
Published: January 2009

AbstractModern high‐throughput proteomic platforms allow incomparable protein mixture resolution and identification. However, such sophisticated facilities are expensive and not always accessible for routine analysis of simple mixtures. In this paper, we propose a simple methodology, based on detection of intact, nondigested proteins by LC coupled to single quadrupole MS (sqLC‐MS), followed by the analysis of the resulting spectra by multivariate analysis (MA). By doing so, even large molecular weight (MW) proteins, generating complex spectra, can be characterized to a level that allows isoform discrimination, while standard algorithms, such as MS spectrum deconvolution, cannot. To demonstrate the effectiveness of the proposed approach, we have analyzed the spectra of a set of purified, intact albumins from seven different organisms (bovine, human, rabbit, rat, sheep, mouse, and pig) as a model of microheterogenous proteins, using Projection to Latent Structure Discriminant Analysis (PLS‐DA). Although these proteins are very similar (less than 1% difference in MW), sqLC‐MS/MA allowed their classification, and the identification of unknown source samples. In addition, MA allowed precise protein quantification from the same data (calibration curve R2 = 0.9966). The ability to rapidly characterize and quantify proteins, together with simplicity and affordability, could make of combined sqLC‐MS/MA a routine method for the characterization of simple mixture of known proteins.
Mass spectrometric characterization of membrane integral low molecular weight proteins from photosystem II in barley etioplasts
Authors: Plöscher Matthias , Granvogl Bernhard , Zoryan Mikael , Reisinger Veronika , Eichacker Lutz Andreas 
Published: January 2009

AbstractIn Photosystem II (PSII), a high number of plastid encoded and membrane integral low molecular weight proteins smaller than 10 kDa, the proteins PsbE, F, H, I, J, K, L, M, N, Tc, Z and the nuclear encoded PsbW, X, Y1, Y2 proteins have been described. Here we show that all low molecular weight proteins of PSII already accumulate in the etioplast membrane fraction in darkness, whereas PsaI and PsaJ of photosystem I (PSI) represent the only low molecular weight proteins that do not accumulate in darkness. We found by BN‐PAGE separation of membrane protein complexes and selective MS that the accumulation of one‐helix proteins from PSII is light independent and occurs in etioplasts. In contrast, in chloroplasts isolated from light‐grown plants, low molecular weight proteins were found to specifically accumulate in PSI and II complexes. Our results demonstrate how plants grown in darkness prepare for the induction of chlorophyll dependent photosystem assembly upon light perception. We anticipate that our investigation will provide the essential means for the analysis of protein assembly in any membrane utilizing low molecular weight protein subunits.
Quality of life in the chemotherapy treatment of Spanish cancer patients: a comparison of general population norms
Authors: Costa‐Requena Gema , Gil Francisco 
Published: January 2009

AbstractObjective: The SF‐36 Health Survey (SF‐36) is a general instrument used to assess health‐related quality of life (HRQL). The purpose of this study is to describe self‐reported information on health and the quality of life among cancer outpatients during chemotherapy treatment and to compare it with the baseline sample drawn from the general Spanish population.Methods: A randomised sample of 583 cancer outpatients completed the questionnaire. Using a cross‐sectional analysis of the SF‐36 data, standardised scores were used to compare patients with comparative Spanish baseline data. Other health‐related concerns (gender, age, site of cancer) were also analysed.Results: The patients showed acceptable levels on HRQL and no significant differences were found between the oncology patients compared with the general population for any of the SF‐36 domains. The older patients had scores significantly lower in physical functioning (p<0.01) and physical role (p<0.05). The results identified lower HRQL ratings among women compared with men on all the scales except general health. In relation to the location of the cancer, patients with genitourinary tumours scored statistically lower (p<0.05) on bodily pain in the SF‐36 domain compared with patients with gastrointestinal tumours.Conclusions: Although more studies are needed, the SF‐36 allows us to describe the HRQL of cancer outpatients during chemotherapy treatment compared with the general population. Copyright © 2009 John Wiley & Sons, Ltd.
Cancer patients' decisions about discussing Internet information with their doctors
Authors: Bylund Carma L. , Gueguen Jennifer A. , D'Agostino Thomas A. , Imes Rebecca S. , Sonet Ellen 
Published: January 2009

AbstractObjective: To explore cancer patients' and caregivers' decisions regarding whether to discuss cancer‐related information they found on the Internet with their doctors.Methods: 238 participants (cancer patients and caregivers) from three online cancer communities responded to a survey about their experiences finding information on the Internet about their cancer and their reasons for discussing or not discussing that information with their doctors. The reasons were coded into mutually exclusive categories.Results: Participants most frequently reported discussing information in order to be proactive in improving their health. Other reasons included appealing to the doctor as expert, wanting to become more educated, meeting a psychological or coping need, and checking up on or testing the doctor. Of the participants, caregivers were more likely than patients to cite checking up on or testing the doctor as a reason for discussing Internet information. Sixty‐two percent of participants reported sometimes or never talking about Internet information that they thought was important with their doctors. Across all participants, the most frequently reported reasons for not talking about Internet information were attributions about the information and systems‐related reasons. Participants who reported information attribution as a reason for not discussing it with their doctors had higher overall comfort levels with these types of discussions.Conclusions: Many factors influence cancer patients' and caregivers' decisions about discussing Internet information with their doctors. The coherence of the reasons across the communities in this study and in other studies suggests that this typology of reasons is both thorough and valid. Copyright © 2009 John Wiley & Sons, Ltd.