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991.
Ki CS Lee WY Han DH Sung DH Lee KB Lee KA Cho SS Cho S Hwang H Sohn KM Choi YJ Kim JW 《Journal of human genetics》2002,47(9):473-477
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized
by slowly progressive spasticity and weakness of the lower extremities. Among eight loci linked with autosomal-dominant (AD)-HSP,
the SPG4 locus on chromosome 2p22 accounts for about 40% of all patients. Recently, mutations in a new member of the AAA protein family,
called spastin, have been identified as responsible for SPG4-linked AD-HSP. Here, we describe a novel missense mutation (c.1031T>A; I344K) in exon 7 of the SPG4 gene identified in a Korean family with typical clinical features of pure AD-HSP. The mutation affects the third amino acid
of the highly conserved AAA cassette domain, which is the most fore part of the domain altered by a missense mutation reported
so far. Clinical presentations of affected individuals carrying the I344K mutation were not different from those of pure AD-HSP
with SPG4 mutations reported previously. However, it is noteworthy that neither urinary dysfunction nor involvement of upper extremities
was noticed in this family. To our knowledge, this is the first report of genetically confirmed AD-HSP in Korea.
Received: February 20, 2002 / Accepted: May 21, 2002 相似文献
992.
Effects of knee joint angles and fatigue on the neuromuscular control of vastus medialis oblique and vastus lateralis muscle in humans 总被引:1,自引:0,他引:1
The effects of different knee joint angles and fatigue on the neuromuscular control of the vastus medialis oblique (VMO)
and vastus lateralis (VL) muscles were investigated in 17 (11 men, 6 women) young subjects. The electromyogram (EMG) activities
and the force generation capacities were monitored before and after a fatigue protocol at three different knee joint angles,
90°, 150°, 175° of knee extension, on three occasions. In response to randomly triggered light signals, the subjects performed
three isometric maximal voluntary contraction (IMVC) that lasted for 4 to 8 s. This was then followed by the fatigue protocol
which consisted of six bursts of contractions fixed at 30 s on and 10 s off. Immediately after the exercise to fatigue, the
subjects performed another three IMVC in response to the light signals. Repeated measures ANOVA were performed to examine
the effects of fatigue at these three positions on the electromechanical delay (EMD), median frequency (f
med), peak force (F
peak) and root mean square (rms)-EMG:F
peak quotient of VMO and VL. The results revealed a significant effect of the three knee joint angles on the EMD before the fatigue
(P < 0.05). The fatigue protocol induced a significant decrease in F
peak at all the three positions (P < 0.01). However, the fatigue induced a significant decrease of f
med at only 90° and 150° of knee extension (P < 0.01). This occurred in parallel with the lengthening of EMD at these two joint angles (P < 0.01 and P < 0.05). The effects of fatigue on the f
med and EMD were not significant between VMO and VL at all three angles. The insignificant difference in f
med and EMD between VMO and VL at the three knee positions before and after fatigue indicated that no preferential onset activation
between VMO and VL had occurred.
Accepted: 1 September 2000 相似文献
993.
Novel approach to reduce the hepatitis C virus (HCV) window period: clinical evaluation of a new enzyme-linked immunosorbent assay for HCV core antigen 总被引:8,自引:0,他引:8 下载免费PDF全文
Icardi G Ansaldi F Bruzzone BM Durando P Lee S de Luigi C Crovari P 《Journal of clinical microbiology》2001,39(9):3110-3114
994.
Hypoxia stimulates the release by bovine pulmonary artery endothelial cells of an inhibitor of pulmonary artery smooth muscle cell growth 总被引:1,自引:0,他引:1
P M Hassoun P J Pasricha E Teufel S L Lee B L Fanburg 《American journal of respiratory cell and molecular biology》1989,1(5):377-384
The proliferation of smooth muscle cells (SMC) seen in hypoxic pulmonary hypertension is a poorly understood phenomenon but may involve endothelial cell (EC)-SMC interaction. Using bovine pulmonary artery cells, we examined the effect of O2 tension and the role of EC or media conditioned by EC (ECCM) on SMC proliferation. We found no difference in SMC proliferation under 3%, 10%, and 20% O2. EC, co-cultured with SMC in 3% O2, inhibited SMC proliferation consistently by about 40% (versus SMC exposed to hypoxia but not to EC). In normoxia, the degree of inhibition was dependent on EC:SMC ratio. In separate experiments, media from EC exposed to 3% or 20% O2 had a mitogenic activity of 24% and 42%, respectively (compared to 100% mitogenic activity with 5% FCS), on serum-deprived SMC. On the other hand, when SMC were stimulated to grow with FCS, an inhibitory activity (IA) from ECCM on SMC proliferation was observed and was significantly greater in hypoxic versus normoxic ECCM (40% versus 21%, respectively). Amicon concentration showed that the IA was contained in the less than 10 kD fraction of ECCM. Preliminary characterization of this IA indicates that it is unlike any of the known inhibitors of SMC growth, such as lactic acid, prostaglandin derivatives, or heparan sulfate. We conclude that hypoxia causes pulmonary artery EC to release a unique inhibitor of SMC growth. 相似文献
995.
The concept of using high-dose immunosuppressive treatment (HDIT) with autologous stem cell transplantation (ASCT) to treat patients with refractory rheumatoid arthritis has been provided by animal studies and anecdotal case reports. Over the past five years, an increasing number of patients with refractory rheumatoid arthritis have received HDIT with ASCT as an adjunct to intense immunosuppression. Here, we present a case of refractory rheumatoid arthritis in a 54-yr-old woman using HDIT with ASCT. Peripheral blood stem cells were mobilized with cyclophosphamide (4 g/m(2)) followed by G-CSF (5 microg/kg/day). Leukapheresis continued daily until the number of harvested progenitor cells reached 2 x 10(6) CD34+ cells/kg after CliniMax CD34+ positive selection. For HDIT, high-dose cyclophosphamide (total dose 200 mg/kg) and antithymocyte globulin (total dose 90 mg/kg) were administered and CD34+ cells were infused 24 hr after HDIT. The patient tolerated the treatment well but experienced an episode of neutropenic fever. She achieved an early dramatic improvement of joint symptoms during therapy. Fifty percent of improvement of rheumatoid arthritis by the American College of Rheumatology (ACR 50) preliminary definition was fulfilled during the 6 months following ASCT. Although further long-term follow-up is required, the patient's activity of arthritis has been stable since receiving HDIT with ASCT. 相似文献
996.
Purification of fully activated Clostridium botulinum serotype B toxin for treatment of patients with dystonia 下载免费PDF全文
Arimitsu H Inoue K Sakaguchi Y Lee J Fujinaga Y Watanabe T Ohyama T Hirst R Oguma K 《Infection and immunity》2003,71(3):1599-1603
Clostridium botulinum serotype B toxins 12S and 16S were separated by using a beta-lactose gel column at pH 6.0; toxin 12S passed through the column, whereas toxin 16S bound to the column and eluted with lactose. The fully activated neurotoxin was obtained by applying the trypsin-treated 16S toxin on the same column at pH 8.0; the neurotoxin passed through the column, whereas remaining nontoxic components bound to the column. The toxicity of this purified fully activated neurotoxin was retained for a long period by addition of albumin in the preparation. 相似文献
997.
The effect of Jeo Dang-Tang on cytokines production in the patients with cerebral infarction 总被引:2,自引:0,他引:2
Jeong HJ Kang SY Kim SY Lee SG Lee SG Sung KK Kim HM 《Immunopharmacology and immunotoxicology》2003,25(4):503-512
The herbal formulation "Jeo Dang-Tang" (JDT) has long been used for various cerebrovascular diseases. However, very little has scientific investigation been carried out. The aim of the present study is to investigate the effect of JDT on the production of various cytokines in the patients with cerebral infarction (CI). Peripheral blood mononuclear cells (PBMC) obtained from the patients with CI were cultured for 24h in the presence or absence of lipopolysaccharide (LPS) or phytohemagglutinin (PHA). The amount of interleukin (IL)-4, IL-10 and transforming growth factor (TGF)-1beta, in culture supernatant, was significantly increased in the JDT, LPS or PHA treated cells compared to unstimulated cells (P < 0.05). We also show that increased IL-4, and IL-10 level by LPS or PHA was significantly inhibited by JDT in a dose-dependent manner. Maximal inhibition rate of IL-4 and IL-10 production by JDT was 45 +/- 2% and 51 +/- 5% for LPS-stimulated cell and 41.5 +/- 3% and 70.8 +/- 2% for PHA-stimulated cells, respectively (P < 0.05). On the other hand, JDT significantly increased the LPS or PHA-induced TGF-beta1 production (P < 0.05). These data suggest that JDT has a regulatory effect on the cytokines production, which might explain its beneficial effect in the treatment of CI. 相似文献
998.
Park HD Lee WK Ooya T Park KD Kim YH Yui N 《Journal of biomedical materials research. Part A》2003,66(3):596-604
Sulfonated polyrotaxanes (PRx-SO(3)'s), in which sulfonated alpha-cyclodextrins (alpha-CDs) were threaded onto the poly(ethylene glycol) (PEG) segments in a PEG-b-poly(propylene glycol) (PPG)-b-PEG triblock copolymer (Pluronic) capped with benzyloxycarbonyl (Z)-L-phenylalanine (Z-L-Phe), were prepared as a novel surface-modifying biomaterial. Surface modification of the polyurethane (PU) was carried out by blending the PRx-SO(3)'s with a PU solution, followed by solution casting. The incorporated PRx-SO(3)'s led to the enhanced hydrophilicity by changing the surface properties of the PU matrix. Modified PUs showed the stable entrapment of the PRx-SO(3)'s with little extraction into water and enhanced mechanical properties after exposure to water compared to the PU control. The incorporated PRx-SO(3)'s repelled the proteins and kept them from closely approaching the surface areas, prevented platelet activation by thrombin, and effectively repelled bacteria. These results suggest that both the supramolecular structure of the polyrotaxanes and exposure of the sulfonated groups onto the surfaces contribute to these phenomena. Thus, surface modification with PRx-SO(3)'s is suggested to be useful for the fabrication of biocompatible medical devices. 相似文献
999.
Molecular cloning and sequence analysis of full-length cDNAs encoding new group of Cyn d 1 isoallergens 总被引:3,自引:0,他引:3
BACKGROUND: Cyn d 1, the major allergen of Bermuda grass pollen, contains some acidic/basic isoforms. The N-terminal amino acid sequences of some acidic Cyn d 1 isoforms were found to be different from those of Cyn d 1 cDNA clones identified previously. METHODS: A predicted 17-meric oligonucleotide probe was designed to fish the unidentified isoallergen cDNAs out of BGP cDNA library. The reactive clones were isolated and verified by sequencing. Two of them were expressed in the yeast Pichia pastoris to obtain recombinant Cyn d 1 proteins. RESULTS: All four cDNA clones encode the full-length Cyn d 1 with mature proteins of 244 amino acid residues. A 97-99% identity was found among the deduced amino acids of these four clones while an 86% identity was elicited between the four clones and the ones previously identified. The predicted isoelectric focusing (pI) values of the newly identified Cyn d 1s are acidic while pIs of the previously identified Cyn d 1s are basic. The two recombinant acidic Cyn d 1 proteins possess the epitopes recognized by mouse and rabbit polyclonal anti-Cyn d 1 antibodies, and have human IgE-binding capacity as revealed by immunodot assay. CONCLUSIONS: The present study identified full-length cDNAs encoding new isoallergens of Cyn d 1, and separated Cyn d 1 gene into an acidic group and a basic group. 相似文献
1000.
Association of ambient air‐pollution levels with acute asthma exacerbation among children in Singapore 总被引:1,自引:0,他引:1
BACKGROUND: Air-pollution levels have been shown to be associated with increased morbidity of respiratory diseases. METHODS: Data for ambient air-pollutant levels, meteorologic factors, and hospitalization or emergency room (ER) visits for acute asthma in Singapore children over a 5-year period (1990-4) were obtained and analyzed for associations by time-series methods. RESULTS: Throughout this period, the annual mean and 24-h mean levels for sulfur dioxide (SO2), nitrogen dioxide (NO2), and total suspended particles (TSP) and maximum 1-h daily average for ozone were generally within the air-quality guidelines established by the World Health Organization (WHO). However, positive correlation between levels of each of these pollutants and daily ER visits for asthma was observed in children aged 3-12 years, but not among adolescents and young adults (13-21 years old). The association with SO2 and TSP persisted after standardization for meteorologic and temporal variables. An adjusted increase in 2.9 ER visits for every 20 microg/m3 increase in atmospheric SO2 levels, lagged by 1 day, was observed on days when levels were above 68 microg/m3. With TSP, an adjusted increase of 5.80 ER visits for every 20 microg/m3 increase in its daily atmospheric levels, lagged by 1 day, was observed on days with levels above 73 microg/m3. Similar results were also obtained after controlling for autocorrelation by time-series analysis. CONCLUSIONS: These associations were observed even though the overall levels of all pollutants were generally within the air-quality guidelines established by the WHO. These findings suggest that asthmatic children are susceptible to increased levels of air pollutants, particularly SO2 and TSP, although the ambient levels are generally within "acceptable" ranges. 相似文献