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21.
Hyung Jun Park Ha Young Shin Yu Na Cho Seung Min Kim Young-Chul Choi 《Journal of Korean medical science》2014,29(7):1021-1024
Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.
Graphical Abstract
相似文献22.
It is generally accepted that cerebrospinal fluid (CSF) biomarkers such as tau protein, phosphorylated tau protein (threonine 181) and beta-amyloid (1-42) can facilitate early and differential diagnosis of Alzheimer's disease (AD). Since the respective concentrations can only be measured in a number of specialized centers, time to CSF specimen work-up has been considered as crucial for the stability of the respective biomarkers. When shipping of CSF samples is needed for biomarker measurement and immediate freezing of samples is not available, an overnight delay of up to 24h frequently occurs. Therefore, we investigated the potential impact of a 24h delayed freezing on CSF biomarker concentrations and compared it to 2h storage (room temperature, 20 degrees C) and an immediate freezing. First, storage at room temperature for 2h had only marginal, non-significant effects on the concentrations of CSF total tau protein and phospho-tau protein (181) compared to immediate freezing. Second, storage at room temperature for 24h did not significantly affect total tau protein or phospho-tau protein but beta-amyloid (1-42) concentrations which increased significantly compared to the samples frozen immediately. These results indicate that CSF samples for the evaluation of total tau and phospho-tau protein may be kept at room temperature for up to 24h whereas CSF samples for beta-amyloid (1-42) need to be frozen immediately. 相似文献
23.
Alexander Wurm Michael Nogler Christoph G. Ammann Débora C. Coraça-Huber 《International orthopaedics》2014,38(7):1513-1517
Purpose
The aim of this study was to quantify the amount of bone morphogenic protein 7 (BMP-7) in bone samples in different storage and treatment conditions used in bone banks and thereby evaluate the benefit of this test as a routine measure before bone grafting.Methods
Fresh as well as frozen bone chips, each with and without antibiotic impregnation, were screened for their BMP-7 content. Human bone chips were produced from femoral heads of two female donors who had undergone total hip replacement surgery. The amount of BMP-7 was detected using a commercially available enzyme-linked immunosorbent assay (ELISA) test.Results
There were no significant differences between groups in samples obtained from the first femoral head. Bone-chip samples derived from the second femoral head showed significant differences between groups. The actual amount of these differences was small and most likely biologically irrelevant. It is important to note that there was a significant difference between groups when comparing both femoral heads, reflecting donor-to-donor variability.Conclusion
ELISA testing for BMP-7 as a qualitative measurement of bone grafts should be considered a routine quality-control test for bone banks. 相似文献24.
《European journal of pharmaceutics and biopharmaceutics》2014,86(3):459-468
Critical limb ischemia (CLI) is associated with significant morbidity and mortality. In this study, we developed and characterized an intra-arterial cell suspension containing human mesenchymal stem cells (hMSCs) for the treatment of CLI. Equally, the stability of cells was studied in order to evaluate the optimal conditions of storage that guarantee the viability from cell processing to the administration phase. Effects of various factors, including excipients, storage temperature and time were evaluated to analyze the survival of hMSCs in the finished medicinal product. The viability of hMSCs in different packaging media was studied for 60 h at 4 °C. The best medium to maintain hMSCs viability was then selected to test storage conditions (4, 8, 25 and 37 °C; 60 h). The results showed that at 4 °C the viability was maintained above 80% for 48 h, at 8 °C decreased slightly, whereas at room temperature and 37 °C decreased drastically. Its biocompatibility was assessed by cell morphology and cell viability assays. During stability study, the stored cells did not show any change in their phenotypic or genotypic characteristics and physicochemical properties remained constant, the ability to differentiate into adipocytes and osteocytes and sterility requirements were also unaltered. Finally, our paper proposes a packing media composed of albumin 20%, glucose 5% and Ringer’s lactate at a concentration of 1 × 106 cells/mL, which must be stored at 4 °C as the most suitable to maintain cell viability (>80%) and without altering their characteristics for more than 48 h. 相似文献
25.
目的:研究胰腺内分泌肿瘤的胃肠多肽受体表达状况。方法:采用储磷放射自显影技术显示和定量分析胰泌素、蛙皮素、肠血管活性多肽、胆囊收缩素、生长抑素受体在胰腺内分泌肿瘤的表达特征。结果:胃泌素瘤表达蛙皮素、生长抑素受体,胰泌素和肠血管活性多肽受体,其中生长抑素受体亲和力及结合能力显高于其它受体。肠血管活性多肽瘤表达生长抑素,肠血管活性多肽和B型胆囊收缩素受体,以B型胆囊收缩素受体亲和力及结合能力最高。胃泌素瘤或VIP瘤所表达的胰泌素、蛙皮素、肠血管活性多肽、胆囊收缩素和生长抑素受体均呈高亲和力、单结合位点特征。生长抑素瘤和胰高糖素瘤未能测得上述5种胃肠多肽受体。结论:除生长抑素受体外,胃泌素瘤和肠血管活性多肽瘤还表达胰泌素、蛙皮素、肠血管活性多肽受体。 相似文献
26.
目的了解安徽省歙县蓄电池厂铅作业工人的血铅水平,以便采取科学有效的防护措施。方法采用石墨炉原子吸收法测定血铅含量并进行统计分析。结果 311名作业工人当中,血铅检测最低为14μg/L,最高为647μg/L,平均(292.4±161.5)μg/L;血铅≥400μg/L共有78人,超标率为25.1%,其中有6人超过了诊断值;不同性别、不同工龄及不同岗位之间工人血铅超标率差异均有统计学意义(P﹤0.01)。结论该企业工人血铅超标率仍处于较高水平,铅危害情况比较严重,因此应进一步加强监管力度,改进生产工艺,改善工作环境,规范和完善职业危害防护设施,加强对工人的职业危害宣传教育,提高工人自我防护意识,切实保护劳动者的身体健康。 相似文献
27.
《Journal of food composition and analysis》2014,33(1):67-70
The Sprint Rapid Protein Analyzer (CEM Corporation) has introduced a novel method for protein content determination. Dairy and meat industries are adopting this technology, as it is easily integrated in commercial plants; however, its application as a valid tool for meat research requires further evaluation. Using the Dumas method as a reference, the Sprint Rapid Protein Analyzer was tested to evaluate the accuracy, precision and repeatability of the machine, under a variety of different beef muscle sample storage and handling conditions. The samples analysed using the Sprint Rapid Protein Analyzer showed an average within-day relative standard deviation (RSD) of 0.812% and an average inter-day RSD of 1.39%. For samples stored at 4 °C for 24, 48 or 72 h, the RSD ranged between 0.02 and 4.50%. In samples frozen at −35 and −80 °C for 2, 4, 6, 8, 10 and 12 months, the average RSD compared to fresh samples was 2.89%. Thus, the Sprint method, once properly calibrated over the compositional range encountered, may be suitable for use to determine protein content in lean beef research. 相似文献
28.
随着我国医疗机构现代化管理的发展与药品循环流通制度的改革,就药品库存进行科学管理,成为目前需要解决的一大难题。由于中药的特性,其与一般西药相比,库存管理的问题更多,如处理不当,易引发药物质量问题,轻则影响疗效,重则危及患者健康。目前,药品采购计划不周、药品仓库管理工作人员相对不足、存在库存账、物不符等现象以及药品有效期管理混乱等均为影响中药贮藏的重要因素。而通过制定库存管理制度,严格执行国家相关法律、法规,完善中药药品库存管理体系,强化药品库管人员素质,严格把关入库,中药分类贮存,定期核查中药药品库存,做好库存重要药品养护,均可以较大程度上改善目前各类中药贮藏问题。 相似文献
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30.
Bacterial contamination of blood is being recognized more frequently now and is one of the serious complications of transfusion. Use of integrally attached collection systems and strict standards for skin preparation, collection and storage of blood and components have reduced but not eliminated the risk of bacterial contamination. As bacteraemia may be part of acute or sub acute infections, strict donor selection is warranted. The longer the storage time, the greater is the number of organisms and amount of endotoxin present in the unit and associated with transfusion reactions. Importance of haemovigilance system and awareness among clinicians on the potential complications will go a long way in reducing patient morbidity. New approaches for detection of bacterial contamination, pathogen reduction and developments in the field of platelet biology will increase blood safety. 相似文献