bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl
Authors: Fernández‐Álvarez Emilio , García‐Cazorla Angeles , Sans Anna , Boix Cristina , Vilaseca María Antonia , Busquets Christianne , Ribes Antonia 
Published: September 2003

AbstractA 16‐year‐old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society
Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
Authors: Valente Enza‐Maria , Misbahuddin Anjum , Brancati Francesco , Placzek Mark R. , Garavaglia Barbara , Salvi Sergio , Nemeth Andrea , Shaw‐Smith Charles , Nardocci Nardo , Bentivoglio Anna‐Rita , Berardelli Alfredo , Eleopra Roberto , Dallapiccola Bruno , Warner Thomas T. 
Published: September 2003

AbstractThe ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus–dystonia. To evaluate the relevance of SGCE in myoclonus–dystonia, we sequenced the entire coding region of the ϵ‐sarcoglycan gene in 16 patients with either sporadic or familial myoclonus–dystonia. No mutations were found. This study suggests that ϵ‐sarcoglycan does not play an important role in sporadic myoclonus–dystonia and supports genetic heterogeneity in familial cases. © 2003 Movement Disorder Society
Patients', doctors', and caregivers' assessment of disability using the UPDRS‐ADL section: Are these ratings interchangeable?
Authors: Martínez‐Martín Pablo , Benito‐León Julian , Alonso Fernando , Catalán M. José , Pondal Margarita , Tobías Aurelio , Zamarbide Ivana 
Published: September 2003

AbstractThis multicenter study sought to analyze the validity and reliability of the Unified Parkinson's Disease Rating Scale (UPDRS)‐section 2 (Activities of Daily Living, ADL) as applied by patients and caregivers. Sixty pairs of PD patients–caregivers were enrolled for study purposes. Neurologists used a set of scales to determine disease severity and patients' functional state. Patients and caregivers used adapted versions of the UPDRS‐section 2 in tandem with other measures. Wilcoxon and Mann‐Whitney tests, weighted κ, intraclass and Spearman's correlation coefficients, as well as multivariate linear regression models were applied. On the whole, PD patient self‐assessment and caregiver evaluation of patients' disability showed close concordance with neurologists' ratings. Correlation between caregiver ratings and clinical evaluation tended to be slightly lower than that for patient‐based self‐assessment. Depression showed a positive correlation with disability and had a nonsystematic influence on UPDRS‐section 2 (ADL) scores. As expected, there was a significant correlation between perceived disability and health‐related quality of life measures. Caregiver burden did not reduce the level of agreement with neurologists as to the overall rating of any given patient's disability. In PD, UPDRS‐section 2–based assessment of disability by patients themselves and caregivers is a valid and reliable outcome. © 2003 Movement Disorder Society
Prospective study of presynaptic dopaminergic imaging in patients with mild parkinsonism and tremor disorders: Part 1. Baseline and 3‐month observations
Authors: Benamer Hani T.S. , Oertel Wolfgang H. , Patterson Jim , Hadley Donald M. , Pogarell Oliver , Höffken H. , Gerstner A. , Grosset Donald G. 
Published: September 2003

AbstractTo record prospectively, from early presentation, the clinical features of parkinsonism and tremor disorders, in relation to evidence of dopaminergic deficit shown with [123I]‐FP‐CIT (DaTSCAN, Amersham Health) single photon emission computerised tomography (SPECT). Clinical signs were recorded in 62 patients, of whom 24 failed standard Parkinson's disease (PD) and essential tremor criteria, and 38 fulfilled UK Brain Bank step 1 PD criteria. Striatal radioligand uptake was graded visually as normal or abnormal, and specific:nonspecific ratios were calculated. Bradykinesia and rigidity showed significant overall association with abnormal scans (P ≤ 0.003), but rest tremor did not (P = NS). In the 24 patients not fulfilling specific criteria (mean age 63 [SD 9] years, disease duration 3 [SD 4] years), 10 (42%) had abnormal visual SPECT assessment and 14 (58%) had normal scans. Of 38 patients with early PD by clinical criteria (mean age 60 [SD 9] years, disease duration 3 [SD 1.7] years), 33 (87%) were visually abnormal. Baseline clinical diagnosis corresponded with SPECT imaging results in 51 of 62 cases (82%), which increased to 56 of 62 cases (90%) with amendment of seven clinical diagnoses at 3 months (blind to SPECT results). Akinetic–rigid cardinal diagnostic features of parkinsonism associate well with dopaminergic deficit in patients with early and mild clinical features. When these clinical features are uncertain, or the patient fails clinical diagnostic criteria, testing for dopaminergic deficit with [123I]‐FP‐CIT SPECT may assist the diagnostic process. © 2003 Movement Disorder Society
Nigral glutathione deficiency is not specific for idiopathic Parkinson's disease
Authors: Fitzmaurice Paul S. , Ang Lee , Guttman Mark , Rajput Ali H. , Furukawa Yoshiaki , Kish Stephen J. 
Published: September 2003

AbstractThe consistent findings of decreased levels of the major antioxidant glutathione in substantia nigra of patients with idiopathic Parkinson's disease (PD) has provided most of the basis for the oxidative stress hypothesis of the etiology of PD. To establish whether a nigral glutathione deficiency is unique to PD, as is generally assumed, or is present in other Parkinsonian conditions associated with nigral damage, we compared levels of reduced glutathione (GSH) in postmortem brain of patients with PD to those with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). As compared with the controls, nigral GSH levels were decreased in the PD and PSP patient groups (P < 0.05 for PD [−30%], PSP [−21%]), whereas a similar decrease in the MSA patient group did not reach statistical significance (P = 0.078, MSA [−20%]). GSH levels were normal in all examined normal and degenerating extra‐nigral brain areas in PSP and MSA. A trend for decreased levels of uric acid (antioxidant and product of purine catabolism) also was observed in nigra of all patient groups (−19 to −30%). These data suggest that glutathione depletion, possibly consequent to overutilisation in oxidative stress reactions, could play a causal role in nigral degeneration in all nigrostriatal dopamine deficiency disorders, and that antioxidant therapeutic approaches should not be restricted to PD. © 2003 Movement Disorder Society
TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases
Authors: Walker Ruth H. , Good Paul F. , Shashidharan P. 
Published: September 2003

AbstractA mutation of the DYT1 gene, which codes for torsinA, has been identified as a cause of autosomal dominantly inherited dystonia. The function of torsinA is not yet known, but it is found throughout the central nervous system and has been identified in Lewy bodies in Parkinson's disease. We examined cases of Huntington's disease, spinocerebellar ataxia type III, and Huntington's disease‐like 2 using antibodies to torsinA, and found that ubiquitinated, intranuclear neuronal inclusions were torsinA‐immunoreactive, possibly indicating a role for torsinA in protein degradation. © 2003 Movement Disorder Society
Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy Brain Bank
Authors: Josephs Keith A. , Dickson Dennis W. 
Published: September 2003

AbstractDiagnostic accuracy has been addressed previously for Parkinson's disease in a brain bank collection, but accuracy of progressive supranuclear palsy (PSP) has not been addressed in a similar setting. Clinical and genetic features of pathologically confirmed cases of PSP were compared with misdiagnosed cases to determine ways to improve diagnostic accuracy. Medical records were reviewed for 180 cases sent to the Society of Progressive Supranuclear Palsy Brain Bank that had standardized neuropathologic evaluations as well as determination of apolipoprotein E and tau genotypes. Of the 180 cases studied, 137 had PSP and 43 had other pathologic diagnoses. Corticobasal degeneration (CBD), multiple system atrophy (MSA), and diffuse Lewy body disease (DLBD) accounted for 70% of the misdiagnosed cases. History of tremor, psychosis, dementia, and asymmetric findings were more frequent in misdiagnosed cases. The frequency of H1 tau haplotype (93 vs. 80%) and H1H1 genotype (86 vs. 66%) were significantly greater and APOE ϵ4 carrier state was significantly less (17 vs. 41 %) in PSP compared with misdiagnosed cases. Pathologic evaluation of clinically diagnosed PSP remains important for definitive diagnosis, and CBD, MSA, and DLBD are the disorders most likely to be misdiagnosed as PSP. Tremor, psychosis, early dementia, asymmetric findings, absence of H1 haplotype, and presence of APOE ϵ4 should raise questions about a diagnosis of PSP. © 2003 Movement Disorder Society
Bilateral subthalamic nucleus deep brain stimulation for advanced PD: Correlation of intraoperative MER and postoperative MRI with neuropathological findings
Authors: Counelis George J. , Simuni Tanya , Forman Mark S. , Jaggi Jurg L. , Trojanowski John Q. , Baltuch Gordon H. 
Published: September 2003

AbstractThis postmortem study correlated intraoperative subthalamic nucleus (STN) deep brain stimulation (DBS) placement and postoperative magnetic resonance imaging (MRI) with autopsy findings in a patient who died suddenly 4 days postoperatively from a pulmonary embolism. The study demonstrates that (1) MRI stereotactic localization combined with microelectrode recording (MER) is an accurate way to target STN; (2) multiple MER tracts do not cause significant injury to the brain; and (3) postoperative MRI accurately demonstrates location of the DBS electrodes. © 2003 Movement Disorder Society
Visual function in Huntington's disease patients and presymptomatic gene carriers
Authors: O'Donnell Brian F. , Wilt Marcia A. , Hake Ann Marie , Stout Julie C. , Kirkwood Sandra C. , Foroud Tatiana 
Published: September 2003

AbstractDisturbances of visual cognition, visuomotor performance, and visual memory have been described frequently in Huntington's disease (HD). Early stage visual abnormalities could contribute to these deficits. We evaluated visual processing in 20 control subjects who were non‐gene carriers at risk for HD, nine presymptomatic gene‐positive subjects, and eight subjects with a recent diagnosis of Huntington's disease. Visual perceptual tests of contrast sensitivity and motion discrimination were used to probe early stage visual processing. Extraocular movements were evaluated in a neurologic examination, and the Digit Symbol test was used to test visual motor performance. Contrast sensitivity did not differ among the three groups. Motion discrimination was impaired in HD subjects but not in the presymptomatic gene carriers when compared to gene noncarriers. Among gene carriers, impaired motion discrimination performance was associated with poorer Digit Symbol performance and extraocular abnormalities. These findings suggest that the early stages of HD are associated with disturbances of motion perception as well as disruptions of visual motor and ocular motor performance. © 2003 Movement Disorder Society
Electromagnetic optimization using a mixed‐parameter self‐adaptive evolutionary algorithm
Authors: Hoorfar Ahmad , Zhu Jinhui , Nelatury Sudarshan 
Published: September 2003

AbstractAn evolutionary programming algorithm with a mixed continuous‐discrete parameter representation for application in electromagnetic optimization problems is presented. In our approach, the mutation operator consists of a hybrid combination of Gaussian mutation for the continuous parameters, and Poisson mutation for the discrete parameters. The implementation uses self‐adaptive schemes for updating the standard deviation of the Gaussian distribution and the mean of the Poisson distribution during the evolution. As an example, the proposed evolutionary algorithm is applied to the constraint designs of various multilayer dielectric‐filter structures. © 2003 Wiley Periodicals, Inc. Microwave Opt Technol Lett 39: 267–271, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.11187
Optically controlled microstrip load and stub on silicon substrate
Authors: Bhadauria Avanish , Nasimuddin  , Verma A. K. , Sharma Enakshi Khular , Singh B. R. 
Published: September 2003

AbstractIn this paper we report the modeling and experimental measurements for optical control of a microstrip load and λg/4 stub fabricated on high‐resistivity silicon substrate. We present the basic circuit model of a photoinduced or optical load created by a laser spot at the end of an open microstrip line. The modeled optical load has been used to simulate reflections at open microstrip line terminated by the optical load. The results obtained by both simulation and measurement show that an optical load created at the open termination of a microstrip line can control the reflection parameter of the line. A similar optical load created at the end of an open λg/4 stub on a microstrip line has been shown to control the transmitted power at the design frequency. The measurement results compare well with those predicted by both a simple circuit simulation and a simulation carried out on the Ansoft Maxwell simulator using a termination obtained by an equivalent circuit model of the optical load. © 2003 Wiley Periodicals, Inc. Microwave Opt Technol Lett 39: 271–276, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.11188
Dual wideband radiating element for mobile handsets
Authors: Le Thuc P. , Staraj R. , Kossiavas G. 
Published: September 2003

AbstractA lightweight, low‐cost antenna suitable for personal communication handsets is proposed. This antenna consists of two stacked quarter‐wavelength elements short‐circuited along the same plane. A slot was embedding in each patch to allow the achievement of two widebands, including GSM and DCS/PCS/UMTS system applications. The software design package IE3D was used and good agreement with the measured results was obtained. © 2003 Wiley Periodicals, Inc. Microwave Opt Technol Lett 39: 288–290, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.11193
Novel semiconductor phase shifters for millimeter‐wave devices
Authors: Iqbal Sheikh Sharif 
Published: September 2003

AbstractMicrowave and millimeter‐wave ferrite phase shifters are essential components in phased‐array antennas for telecommunication and radar applications. However, the extremely high cost and frequency limitations have limited their use to military applications. In this study, potentially low‐cost, miniaturized semiconductor phase shifters are analyzed and compared with their ferrite counterparts. Ferrite‐semiconductor composite phase shifters are also envisaged. © 2003 Wiley Periodicals, Inc. Microwave Opt Technol Lett 39: 300–303, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.11197
Hybrid approach to Volterra analysis for microwave MEFET amplifiers for digital wireless communications
Authors: Huang Chien‐Chang 
Published: September 2003

AbstractA hybrid approach to Volterra analysis using both time‐ and frequency‐domain operations for microwave MESFET amplifiers is proposed in order to adapt continuous spectral features in digital wireless communications. The major modification is the equivalent baseband formulations in the time domain for the digital modulation signal, and frequency‐domain treatment of the nonlinear system via a Volterra series expansion. Theoretical and numerical studies indicate a great improvement in computation efficiency as compared with the pure frequency‐domain approach. The method shown has potential applications for both circuit‐ and system‐level simulations in digital wireless communications. © 2003 Wiley Periodicals, Inc. Microwave Opt Technol Lett 39: 314–317, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.11201
L‐band active receiving antenna for automotive applications
Authors: Rabinovich Victor 
Published: September 2003

AbstractThis paper describes L‐band active receiving antenna for the automotive applications (DAB radio). The antenna is based on a printed dipole in 1452‐1492 MHz frequency range and has a low noise amplifier. Two different versions of the antenna are presented: one for “on‐vehicle” application (roof or trunk) and the second one for “in‐vehicle” application (glass window). Antenna directionality is measured for on‐vehicle and in‐vehicle antenna locations. © 2003 Wiley Periodicals, Inc. Microwave Opt Technol Lett 39: 319–323, 2003; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/mop.11203
Peroxisome proliferator‐activated receptor delta expression and regulation in mouse uterus during embryo implantation and decidualization
Authors: Ding Nai‐Zheng , Teng Chun‐Bo , Ma Hong , Ni Hua , Ma Xing‐Hong , Xu Li‐Bin , Yang Zeng‐Ming 
Published: September 2003

AbstractThe aim of this study was to examine the expression and regulation of peroxisome proliferator‐activated receptor (PPAR) PPARδ gene in mouse uterus during early pregnancy by in situ hybridization and immunohistochemistry. PPARδ expression under pseudopregnancy, delayed implantation, hormonal treatment, and artificial decidualization was also investigated. There was a very low level of PPARδ expression on days 1–4 of pregnancy. On day 5 when embryo implanted, PPARδ expression was exclusively observed in the subluminal stroma surrounding the implanting blastocyst. No corresponding signals were seen in the uterus on day 5 of pregnancy. There was no detectable PPARδ signal under delayed implantation. Once delayed implantation was terminated by estrogen treatment and embryo implanted, a strong level of PPARδ expression was induced in the subluminal stroma surrounding the implanting blastocyst. Estrogen treatment induced a moderate level of PPARδ expression in the glandular epithelium, while progesterone treatment had no effects in the ovariectomized mice. A strong level of PPARδ expression was seen in the decidua on days 6–8 of pregnancy. PPARδ expression was also induced under artificial decidualization. These data suggest that PPARδ expression at implantation sites require the presence of an active blastocyst and may play an essential role for blastocyst implantation. Mol. Reprod. Dev. 66: 218–224, 2003. © 2003 Wiley‐Liss, Inc.
Role of endogenous reverse transcriptase in murine early embryo development
Authors: Pittoggi Carmine , Sciamanna Ilaria , Mattei Elisabetta , Beraldi Rosanna , Lobascio Anna Maria , Mai Antonello , Quaglia Maria Giovanna , Lorenzini Rodolfo , Spadafora Corrado 
Published: September 2003

AbstractWe report that a reverse transcriptase (RT) activity is present in early cleavage stage embryos as determined by a Polymerase chain reaction (PCR)‐based detection assay. In an attempt to establish whether this activity plays a role in early embryonic development, we have blocked the endogenous RT by two independent approaches: (1) embryos were exposed to nevirapine, a highly specific nonnucleoside inhibitor of RT activity; (2) anti‐RT antibody was microinjected into the nucleus of one blastomere of 2‐cell embryos. When embryos were exposed to nevirapine in the developmental window between late 1‐cell and 4‐cell stages, development was arrested before the blastocyst stage. In contrast, development was not affected when embryos were exposed to nevirapine after the eight‐cell stage. Developmental arrest was also induced when anti‐RT antibody was microinjected in one blastomere of 2‐cell embryos. Analysis of gene expression by RT‐PCR in nevirapine‐arrested 2‐cell embryos revealed an extensive and specific reprogramming of gene expression, involving both developmentally regulated and constitutively expressed genes, compared to control embryos. These results support the conclusion that an endogenous RT activity is required in mouse early embryogenesis specifically between the late 1‐cell and the 4‐cell stage. Mol. Reprod. Dev. 66: 225–236, 2003. © 2003 Wiley‐Liss, Inc.
Transforming growth factor‐beta isoform expression during bovine ovarian antral follicle development
Authors: Nilsson Eric E. , Doraiswamy Vinayak , Skinner Michael K. 
Published: September 2003

AbstractTransforming growth factor‐beta (TGF‐β) isoforms are important paracrine and autocrine signaling molecules for the regulation of ovarian follicle growth and physiology. Effective communication between the epithelial granulosa cells, the mesenchymal theca cells, and the oocyte is vital for ovarian function and reproductive success. The expression, localization, and regulation of TGF‐β isoforms in the developing bovine follicle was examined using both immunohistochemistry and quantitative reverse transcription‐polymerase chain reaction (RT‐PCR) procedures. TGF‐β1 protein was found to be present in the granulosa cells of early pre‐antral, early antral, and 1–2 mm follicles. Interestingly, there was no visible staining of granulosa cells of 3–5 or 5–10 mm follicles. There was also no TGF‐β1 staining of theca cells. TGF‐β2 and TGF‐β3 staining were present in the granulosa and theca cells of all follicle stages examined. The levels of TGF‐β mRNA expression in granulosa and theca cells from antral follicles was measured using quantitative RT‐PCR. For each isoform mRNA expression levels did not change in different sized antral follicles. TGF‐β3 mRNA levels were much higher than those of TGF‐β1 and TGF‐β2 in both granulosa and theca. Expression levels were higher in theca than in granulosa for TGF‐β2 and TGF‐β3. FSH was found to decrease TGF‐β1 mRNA expression in granulosa cells, but had no effect on TGF‐β2 and TGF‐β3. Bovine ovarian follicles were found to have a unique pattern of TGF‐β isoform expression and regulation when compared to other species (i.e., rodent, pig, quail, and human). The similarities and differences between the various species is discussed to help elucidate common functions of TGF‐β in the ovary. In summary, observations demonstrate that as antral follicles develop, TGF‐β3 is the most abundant TGF‐β isoform and TGF‐β1 protein levels decline in large follicles. Granulosa cell TGF‐β1 expression was decreased by FSH and this correlated with reduced levels in large antral follicles. TGF‐βs involved in antral follicular growth and development appear to act as paracrine/autocrine signaling molecules having a species‐specific pattern of expression. Mol. Reprod. Dev. 66: 237–246, 2003. © 2003 Wiley‐Liss, Inc.