bluuebunny/crossref_metadata_2025_split huggingface dataset:
An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: A genetic, clinical and radiological description
Authors: Novak Marianne J.U. , Sweeney Mary G. , Li Abi , Treacy Colm , Chandrashekar Hoskote S. , Giunti Paola , Goold Robert G. , Davis Mary B. , Houlden Henry , Tabrizi Sarah J. 
Published: July 2010

Abstractthe purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5‐triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects. © 2010 Movement Disorder Society.
Somatosensory evoked potentials recorded from the human pedunculopontine nucleus region
Authors: Yeh I‐Jin , Tsang Eric W. , Hamani Clement , Moro Elena , Mazzella Filomena , Poon Yu‐Yan , Lozano Andres M. , Chen Robert 
Published: July 2010

AbstractThe pedunculopontine nucleus region (PPNR) is an integral component of the midbrain locomotor region and has widespread connections with the cortex, thalamus, brain stem, cerebellum, spinal cord, and especially, the basal ganglia. No previous study examined the somatosensory connection of the PPNR in human. We recorded somatosensory evoked potentials (SEP) from median nerve stimulation through deep brain stimulation (DBS) electrodes implanted in the PPNR in 8 patients (6 with Parkinson's disease, 2 with progressive supranuclear palsy). Monopolar recordings from the PPNR contacts showed triphasic or biphasic potentials. The latency of the largest negative peak was between 16.8 and 18.7 milliseconds. Bipolar derivation revealed phase reversal with median nerve stimulation contralateral to the DBS electrode in 6 patients. There was no difference in SEP amplitude and latency between on and off medication states. We also studied the high frequency oscillations (HFOs) by filtering the signal between 500 and 2,500 Hz. The HFOs could be identified only from contralateral stimulation and had intraburst frequencies of 1061 ± 121 Hz, onset latencies of 13.8 ± 1.2 milliseconds, and burst durations of 7.3 ± 1.1 milliseconds. Among the 10 recordings with HFOs, only 1 had possible phase reversal in the bipolar derivation. Our results suggest that there are direct somatosensory inputs to the PPNR. The slow components and HFOs of the SEP have different origins. © 2010 Movement Disorder Society.
Odor identification deficits are associated with increased risk of neuropsychiatric complications in patients with Parkinson's disease
Authors: Stephenson Randolph , Houghton David , Sundarararjan Sri , Doty Richard L. , Stern Matthew , Xie Sharon X. , Siderowf Andrew 
Published: July 2010

AbstractOlfactory deficits appear early in the course of Parkinson's disease (PD) but their prognostic significance is not known. The goal of this study was to determine whether the severity of olfactory impairment is associated with subsequent risk of developing complications of PD. One hundred patients with PD self‐administered the University of Pennsylvania Smell Identification Test (UPSIT). Testing was done, on average, 3.6 years from the time of initial diagnosis. The incidence of neuropsychiatric features of PD, including cognitive decline and visual hallucinations, was ascertained through chart review after an average of 6.8 years of follow‐up. Incidence of motor outcomes including falls and dyskinesias was also obtained. There was a significant trend for increased risk of neuropsychiatric complications across declining quartiles of olfactory test scores. In addition, subjects in the lowest quartile of olfactory performance had a significantly higher adjusted risk of hallucinations (HR = 4.70, 95% CI 1.64, 13.42) and cognitive decline (HR = 3.10, 95% CI 1.05, 9.21) than those in the reference quartile. There was no association between olfactory dysfunction and dyskinesias, and a very modest association with risk of falls. These findings suggest that severity of olfactory impairment early in the disease course may be a useful marker for the risk of neuropsychiatric complications of PD. © 2010 Movement Disorder Society
Characteristics of the sequence effect in Parkinson's disease
Authors: Kang Suk Yun , Wasaka Toshiaki , Shamim Ejaz A. , Auh Sungyoung , Ueki Yoshino , Lopez Grisel J. , Kida Tetsuo , Jin Seung‐Hyun , Dang Nguyet , Hallett Mark 
Published: July 2010

AbstractThe sequence effect (SE) in Parkinson's disease (PD) is progressive slowing of sequential movements. It is a feature of bradykinesia, but is separate from a general slowness without deterioration over time. It is commonly seen in PD, but its physiology is unclear. We measured general slowness and the SE separately with a computer‐based, modified Purdue pegboard in 11 patients with advanced PD. We conducted a placebo‐controlled, four‐way crossover study to learn whether levodopa and repetitive transcranial magnetic stimulation (rTMS) could improve general slowness or the SE. We also examined the correlation between the SE and clinical fatigue. Levodopa alone and rTMS alone improved general slowness, but rTMS showed no additive effect on levodopa. Levodopa alone, rTMS alone, and their combination did not alleviate the SE. There was no correlation between the SE and fatigue. This study suggests that dopaminergic dysfunction and abnormal motor cortex excitability are not the relevant mechanisms for the SE. Additionally, the SE is not a component of clinical fatigue. Further work is needed to establish the physiology and clinical relevance of the SE. © 2010 Movement Disorder Society.
The prevalence and patterns of pharyngoesophageal dysmotility in patients with early stage Parkinson's disease
Authors: Sung Hye Young , Kim Joong‐Seok , Lee Kwang‐Soo , Kim Yeong‐In , Song In‐Uk , Chung Sung‐Woo , Yang Dong‐Won , Cho Yu Kyung , Park Jae Myung , Lee In Seok , Kim Sang Woo , Chung In‐Sik , Choi Myung‐Gyu 
Published: July 2010

AbstractDysphagia occurs in the majority of patients with Parkinson's disease (PD) and is known to correlate with abnormalities of oropharyngeal function. The aim of this study was to evaluate pharyngoesophageal activity in patients with early‐stage PD. Newly diagnosed PD patients with a symptom duration not exceeding 3 years were included. All PD patients were questioned about symptoms of dysphagia and underwent combined multichannel intraluminal impedance manometry and multiple rapid swallow tests. Fifty‐four patients (22 men and 32 women, 67.1 ± 10.3 years) were enrolled. The duration of Parkinsonian motor symptoms was 11.5 ± 8.8 months, the Hoehn and Yahr stage was 1.6 ± 0.4, and the total Unified Parkinson's Disease Rating Scale was 25.1 ± 18.6. Esophageal manometry in the liquid swallow and viscous swallow tests was abnormal in 22 (40.7%) and 31 (67.4%) patients, respectively. Although manometric abnormalities were more common in patients with more severe dysphagia symptoms, many patients with no or minimal symptoms also had manometric abnormalities. Repetitive deglutition significantly correlated with failed peristalsis and incomplete bolus transit. Abnormal responses to multiple rapid swallow tests were found in 33 out of 54 patients; 29 with incomplete inhibition (repetitive contraction) and 4 with failed peristalsis. These results suggest that the majority of patients with early‐stage PD showed pharyngeal and esophageal dysfunction even before clinical manifestations of dysphagia, which may reflect selective involvement of either the brain stem or the esophageal myenteric plexus in early‐stage PD. © 2010 Movement Disorder Society.
Voluptuary habits and clinical subtypes of Parkinson's disease: The FRAGAMP case–control study
Authors: Nicoletti Alessandra , Pugliese Pierfrancesco , Nicoletti Giuseppe , Arabia Gennarina , Annesi Grazia , Mari Michele De , Lamberti Paolo , Grasso Lucia , Marconi Roberto , Epifanio Antonio , Morgante Letterio , Cozzolino Autilia , Barone Paolo , Torchia Giusi , Quattrone Aldo , Zappia Mario 
Published: July 2010

AbstractWe evaluated the possible association between smoking, coffee drinking, and alcohol consumption and Parkinson's disease (PD). The FRAGAMP study is a large Italian multicenter case–control study carried out to evaluate the possible role of environmental and genetic factors in PD. Adjusted ORs were estimated using unconditional logistic regression. Smoking, coffee, and alcohol consumption were also considered as surrogate markers of lifestyle and analysis was carried out considering the presence of at least one, two, or three factors. This latter analysis was separately performed considering Tremor‐Dominant (TD) and Akinetic‐Rigid (AR) patients. Four hundred ninety‐two PD patients (292 men and 200 women) and 459 controls (160 men and 299 women) were enrolled in the study. Multivariate analysis showed a significant negative association between PD and cigarette smoking (OR 0.51; 95%CI 0.36–0.72), coffee drinking (OR 0.61; 95%CI 0.43–0.87) and wine consumption (OR 0.62; 95%CI 0.44–0.86); a significant trend dose‐effect (P < 0.05) has been found for all the factors studied. We have also found a trend dose‐effect for the presence of at least one, two or three factors with a greater risk reduction (83%) for the presence of three factors. However, a different strength of association between TD and AR was found with a greater risk reduction for the AR patients. We found a significant inverse association between PD smoking, coffee, and alcohol consumption. When analysis was carried out considering the association of these factors as possible surrogate markers of a peculiar lifestyle the association was stronger for the AR phenotype. © 2010 Movement Disorder Society.
The Effect of a motor‐based, social skills intervention for adolescents with high‐functioning autism: two single‐subject design cases
Authors: Gutman Sharon A. , Raphael Emily I. , Ceder Leila M. , Khan Arshi , Timp Katherine M. , Salvant Sabrina 
Published: July 2010

AbstractThe purpose of this study was to assess the effect of a motor‐based, social skills intervention for two adolescents with high‐functioning autism (HFA) using single‐subject design. A description of the intervention is provided as a first step in the manualization process. The intervention was provided as a 7‐week after‐school program, once weekly to the paired participants. Intervention consisted of role‐play methods in which motor behaviours were linked with their cognitive and emotional meanings. Baseline, intervention and 3‐month probe data collection periods were carried out and then compared using visual inspection of graphed data, paired t‐tests and a three‐standard‐deviation‐band approach. Both participants displayed a statistically significant increase in targeted social skills behaviours from baseline to intervention and maintained this level at a 3‐month post‐intervention probe. These single‐subject design cases illustrate that motor‐based, social skills interventions may be effective for adolescents with HFA and warrant further testing. Copyright © 2010 John Wiley & Sons, Ltd.
Central‐local relations in the people's Republic of China: Trends, processes and impacts for policy implementation
Authors: Li Linda Chelan 
Published: July 2010

AbstractCentral–local relations are a matter of great importance to developmentalists because they highlight an intriguing puzzle in public administration especially in large states: how policies decided at higher echelons of the formal system can possibly be implemented by the multitude of intermediary and local actors across the system. In the case of China—the most populous nation in the world, the contrast between the authoritarian façade of the Chinese regime and yet the proliferation of implementation gaps over many policy arenas adds additional complexity to the puzzle. This article reviews changes in central–local relations in the 60 years of history of People's Republic of China (PRC) as the outcome of four co‐evolving processes, and clarifies the roles of each process: state building and national integration, development efficiency, career advancement and external influences. It points out the continuous pre‐dominance of administrative decentralization from 1950s to present time, and the new emphasis on institutionalized power sharing in the context of new state‐market boundaries since 1980s. In conclusion, the article suggests going beyond the traditional reliance on the compliance model to understand central–local interactions and the abundant implementation gaps in a context of central–local co‐agency, thereby improving policy implementation. Copyright © 2010 John Wiley & Sons, Ltd.
Preparation and characterization of poly(vinyl alcohol) nanofiber mats crosslinked with blocked isocyanate prepolymer
Authors: Lee Ji‐Hui , Lee Un‐Soo , Jeong Kwang‐Un , Seo Yun‐A , Park Soo‐Jin , Kim Hak‐Yong 
Published: July 2010

AbstractPoly(vinyl alcohol) (PVA) nanofibers crosslinked with blocked isocyanate prepolymer (BIP) were successfully prepared using the electrospinning process and subsequent thermal treatment. Fourier transform infrared spectroscopy and solid‐state 13C NMR spectroscopy demonstrated that chemical crosslinks between the hydroxyl group of PVA and the isocyanate group of BIP were formed. Thermogravimetric analysis and differential scanning calorimetry results indicated that when the BIP content was increased, the thermal stability of PVA/BIP nanofibers increased, and the crystallinity of PVA decreased. Field emission scanning electron microscopy was used to measure the average diameter (200–300 nm) of the electrospun PVA/BIP nanofibers. The water contact angles were 10.2° and 113° for the pristine PVA nanofibers and PVA nanofibers crosslinked with 8 wt% BIP, respectively. The tensile strength of the crosslinked PVA nanofibers was 53.7 MPa, which was seven times higher than that of pristine PVA. The improved tensile strength and water resistance of the crosslinked PVA/BIP nanofibers were due to a combination of increased crosslinking density and decrease in the number of hydroxyl groups on the surface of the PVA/BIP nanofibers. Copyright © 2010 Society of Chemical Industry
Photochemical generation of thiophene analogs of 9‐fluorenyl cations
Authors: Bancerz Mathew , Huck Lawrence A. , Leigh William J. , Mladenova Gabriela , Najafian Katayoun , Zeng Xiaofeng , Lee‐Ruff Edward 
Published: July 2010

AbstractThe 9‐fluorenyl cation is a member of the 4N Hückel antiaromatic series of intermediates, first observed by time‐resolved spectroscopy on UV photo‐excitation of 9‐fluorenol. Thiophene analogs of 9‐fluorenol in which one of the annelated benzene rings is replaced by a thiophene were prepared in three regioisomeric forms, and subjected to preparative and laser flash photolysis. Photoproduct studies in methanol indicated products derived from the corresponding fluorenyl cations and radical intermediates. Time‐resolved spectroscopy showed transients which were assigned to the corresponding cations as evident from methanol quenching. The lifetimes and methanol quenching rates of these transients were compared with those of parent fluorenyl cation, and were found to be about two orders of magnitude more stable than the latter. On the other hand thermodynamic stabilities obtained from theoretical calculations based on isodesmic reactions of the open form cations, and NICS indicate that two of these ions (2 and 4) are less stable than 9‐fluorenyl cation, whereas the “side” isomer 3 is slightly more stable. Copyright © 2010 John Wiley & Sons, Ltd.
Interest in a group psychotherapy program among Philippine breast cancer patients and its associated factors
Authors: Ledesma Dianne , Takahashi Miyako , Kai Ichiro 
Published: July 2010

AbstractObjective: A wide variety of psychosocial interventions are available for cancer patients, among which group psychotherapy (GPT) programs have made improvements in cancer patients' quality of life, coping abilities, and emotional distress. Few research data are available describing Philippine breast cancer patients' interest in GPT. This study aimed at enumerating the factors that determine Philippine breast cancer patients' interest in a GPT program.Methods: Patients recruited from the University of Santo Tomas Hospital Benavides Cancer Institute were asked to answer a survey questionnaire about their demographic, clinical, and psychosocial status, as well as whether they would be interested in joining GPT and why.Results: Of 135 patients approached, 123 patients completed the survey. 104 (85%) women indicated interest in GPT. Patients were mostly interested because they wanted to learn coping skills (79%) and gain knowledge or information in dealing with cancer (69%). Patients said they were ‘very interested’ in learning about cancer recurrence (96%) and treatments (94%). Bivariate analysis showed that compared to the uninterested group, interested patients were younger, more likely to be married, and were more likely to have used complementary therapy for breast cancer. Logistic regression showed that married women were more likely to be interested in GPT (OR 3.30, CI 1.07–10.20).Conclusion: There is a potentially high interest in GPT among Philippine breast cancer patients. The attributes of Philippine patients interested in GPT are similar to and yet unique, compared to other populations. Copyright © 2010 John Wiley & Sons, Ltd.
Effect of procaterol on Th2‐related chemokines production in human monocyte and bronchial epithelial cells
Authors: Huang Ching‐Hua , Chu Yu‐Te , Kuo Chang‐Hung , Wang Wei‐Li , Hua Yi‐Ming , Lee Min‐Sheng , Hung Chih‐Hsing 
Published: July 2010

AbstractProcaterol is a β2‐adrenoceptor agonist used as a bronchodilator for the treatment of asthma; it also possesses an anti‐inflammatory property. As chemokines play a pivotal role in inflammation and the pathogenesis of asthma, we investigated the effects of procaterol on type 2 helper T cell (Th2)‐related [macrophage‐derived chemokine (MDC) and I‐309] and type 1 helper T cell (Th1)‐related chemokines [monokine‐induced by IFN‐gamma (Mig) and interferon‐inducible protein 10 (IP‐10)] production of THP‐1 cells and human primary monocytes. The effect on thymus‐ and activation‐regulated chemokine (TARC) production in BEAS‐2B cells was also evaluated. Nuclear factor κB (NF‐κB) and mitogen‐activated protein kinase (MAPK) inhibitors were used to ascertain the intracellular signal pathways involved, and etazolate, a phosphodiesterase 4 inhibitor, was used to assess the correlation between the β2‐adrenoceptor‐cAMP pathway and the effect on chemokines. In addition, chromatin immunoprecipitation assays (ChIPs) were performed to detect histone modification in the TARC promoter region. MDC and I‐309 production of both THP‐1 cells and primary human monocytes, as well as TARC expression of BEAS‐2B cells, were significantly inhibited by procaterol (10−10–10−7 M); however, procaterol did not suppress Mig and IP‐10 expression by THP‐1 cells. MDC secreted by monocytes is associated with the NF‐κB and MAPK signaling pathways, in particular p38‐ and c‐Jun N‐terminal kinase (JNK) MAPKs. Etazolate blocked the expression of MDC by THP‐1 cells and TARC by BEAS‐2B cells. ChIP assay revealed decreased trimethylation of lysine 4 in histone 3 (H3K4) in the TARC promoter region of BEAS‐2B cells. In conclusion, procaterol could inhibit Th2‐related chemokines production in human monocytes and bronchial epithelial cells, an effect that may be mediated through not only the NF‐κB, p38, and JNK‐MAPK pathways, but also the β2‐adrenoceptor‐cAMP pathway. Most importantly, the suppressive effect of Th2‐related chemokines production by procaterol might be regulated via post‐transcriptional modification by decreasing H3K4 trimethylation. Pediatr Pulmonol. 2010; 45:977–984. © 2010 Wiley‐Liss, Inc.
PSGR and PCA3 as biomarkers for the detection of prostate cancer in urine
Authors: Rigau Marina , Morote Juan , Mir Maria Carmen , Ballesteros Carlos , Ortega Israel , Sanchez Alex , Colás Eva , Garcia Marta , Ruiz Anna , Abal Miguel , Planas Jacques , Reventós Jaume , Doll Andreas 
Published: July 2010

AbstractBACKGROUNDSeveral studies have demonstrated the usefulness of monitoring an RNA transcript in urine, such as PCA3, for prostate cancer (PCa) diagnosis. PCa screening would benefit from additional biomarkers of higher specificity and could be used in conjunction with prostate‐specific antigen (PSA) testing, in order to better determine biopsy candidates.METHODSWe used urine sediments after prostate massage (PM) from 215 consecutive patients, who presented for prostate biopsy. We tested whether prostate‐specific G‐protein coupled receptor (PSGR), a biomarker previously described to be over‐expressed in PCa tissue, could also be detected by quantitative real‐time PCR in post‐PM urine sediment. We combined these findings with prostate cancer gene 3 (PCA3), the current gold standard for PCa diagnosis in urine, to test if a combination of both biomarkers could improve the sensitivity of PCA3 alone.RESULTSBy univariate analysis we found that PSGR and PCA3 were significant predictors of PCa. Receiver operator characteristic curve analysis and its multivariate extension, multivariate ROC (MultiROC), were used to assess the outcome predictive values of the individual and the paired biomarkers. We obtained the following area under the curve values: PSA (0.602), PSGR (0.681), PCA3 (0.656), and PSGRvPCA3 (0.729). Then, we tested whether a combination of PSGR and PCA3 could improve specificity by fixing the sensitivity at 95%. We obtained specificities of 15% (PSGR), 17% (PCA3), and 34% (PSGRvPCA3).CONCLUSIONSA multiplexed model including PSGR and PCA3 improves the specificity for the detection of PCa, especially in the area of high sensitivity. This could be clinically useful for determining which patients should undergo biopsy. Prostate 70: 1760–1767, 2010. © 2010 Wiley‐Liss, Inc.