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排序方式: 共有675条查询结果,搜索用时 31 毫秒
31.
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32.
目的 探讨不同标本类型及室温放置时间对血液B型钠尿肽(BNP)测定结果的影响.方法 纳入本院住院患者80例,采用BD公司EDTA抗凝管、肝素抗凝管和分离胶血清管同时采集血标本(按EDTA抗凝血测定结果:BNP> 100pg/mL65例;BNP< 100 pg/mL 15例),BNP于1h检测完毕.并配对选取三类标本中BNP水平的高、中、低值各3例,室温闭盖放置,分别测定2h、3h、4h、5h和7h的BNP结果.BNP采用贝克曼库尔特公司DXI800仪器进行检测.结果 肝素抗凝标本的BNP测定值显著高于EDTA标本(588.9±708.4 vs 549.2±639.8,t=-2.184,P=0.32);血清标本显著低于EDTA标本(431.6±517.3 vs 549.2±639.8,t=7.229,P<0.001).以EDTA组测定值为y值,线性回归分析的回归方程分别为Y(EDTA)=0.886X(肝素)+ 27.445(R2=0.962,P<0.001)和Y(EDTA)=1.08X(血清)+82.924(R2=0.763,P<0.001).室温放置对测定结果的影响,EDTA标本高、中值标本7h内的检出率皆高于95%,低值标本5~7h检出率低于95%;肝素标本高值2h检出率低于95%,中、低值3h皆低于95%;而血清标本2~7h的高、中、低值标本检出率皆低于95%.结论 不同标本类型可显著影响BNP测定值;EDTA抗凝标本室温闭盖放置4h内测定值可接受. 相似文献
33.
目的 研究大鼠不同性别、血清样本放置条件及时间对生化检验结果的影响.方法 80只大鼠编号后一次性取静脉血,放置30min后离心,每只鼠血清分成8份.首次(1h)检测后,所有血清至于-80℃冰箱保存,一份于1、2、4、7、11、23、40d时间点重复解冻、检测后复存于-80℃冰箱;其余七份分别于以上时间点单次解冻、检测后丢弃;检测项目均为谷草转氨酶(AST)、谷丙转氨酶(ALT)、尿素(UREA)、肌酐(CREA)、胆固醇(CHO)、甘油三酯(TG)、血糖(GLU)、总蛋白(TP)、白蛋白(ALB).结果 雄性、雌性大鼠血清样本-80℃冰箱保存至40d 9个生化指标均与1h差异无统计学意义;雌性大鼠血清样本保存-80℃在1d、2d、4d、7d4个时间点重复解冻,部分生化指标逐步显示差异有统计学意义,且随解冻次数及保存时间的增加,差异具有统计学意义的生化指标项数增加,第4次(7d)解冻后ALT、TP指标结果与1h测定结果比较差异具有统计学意义(均P<0.05);第5次(11d)解冻ALT、TG、TP指标结果与1h测定结果比较差异具有统计学意义(均P<0.05);第6次(23d)解冻ALT、CREA、TG、TP指标结果与1h测定结果比较差异具有统计学意义(均P<0.05);第7次(40d)解冻ALT、AST、UREA、CREA、TG、GLU、TP、ALB指标结果与1h测定结果比较差异具有统计学意义(均P<0.05).其余指标与1h测定结果比较无显著差异(P>0.05).雄性大鼠血清样本保存-80℃重复解冻1~5次9个生化指标均与1h测定结果比较差异无统计学意义,第6次(23d)解冻TP指标测定结果比较差异具有统计学意义(P<0.05);第7次(40d)解冻TG、TP指标测定结果比较差异具有统计学意义(均P<0.05),其余指标与1h测定结果比较差异无统计学意义(P>0.05).结论 不同性别大鼠血清-80℃条件下保存40d以内单次解冻后测定以及在大鼠血清解冻3次以内对生化指标测定值无影响;但重复解冻4次以上部分生化指标有显著差异,且不同性别大鼠血清指标差异情况不同,血清样本放置条件及时间及解冻次数会对大鼠生化检测指标造成影响. 相似文献
34.
针对传统航空医学声像资料管理方式单一落后的实际情况,通过采用功能强大、性能先进的现代媒体资产管理技术,全面整合空军航空医学研究各类声像数据资源,构建了规模较大、资料丰富、检索高效、运行安全的军事航空医学声像信息管理系统。该系统实现了声像信息管理科学化、规范化、数字化和网络化,进一步提升了声像服务整体实力和保障效能。 相似文献
35.
在全面分析国内现有医院信息平台服务器部署现状的基础上,探讨虚拟化技术在医院服务器资源整合中的优势,以郑州大学第一附属医院为例,阐述服务器虚拟化实施方案以及实施过程中应注意的问题,为加快医院医疗信息化建设提供高效、便捷的途径。 相似文献
36.
Human DNA samples can remain unaltered for years and preserve important genetic information for forensic investigations. In fact, besides human genetic information, these extracts potentially contain additional valuable information: microbiome signatures. Forensic microbiology is rapidly becoming a significant tool for estimating post-mortem interval (PMI), and establishing cause of death and personal identity. To date, the possibility to recover unaltered microbiome signatures from human DNA extracts has not been proven. This study examines the microbiome signatures within human DNA extracts obtained from six cadavers with different PMIs, which were stored frozen for 5–16 years. Results demonstrated that the microbiome can be co-extracted with human DNA using forensic kits designed to extract the human host’s DNA from different tissues and fluids during decomposition. We compared the microbial communities identified in these samples with microbial DNA recovered from two human cadavers donated to the Forensic Anthropology Center at Texas State University (FACTS) during multiple decomposition stages, to examine whether the microbial signatures recovered from “old” (up to 16 years) extracts are consistent with those identified in recently extracted microbial DNA samples. The V4 region of 16 S rRNA gene was amplified and sequenced using Illumina MiSeq for all DNA extracts. The results obtained from the human DNA extracts were compared with each other and with the microbial DNA from the FACTS samples. Overall, we found that the presence of specific microbial taxa depends on the decomposition stage, the type of tissue, and the depositional environment. We found no indications of contamination in the microbial signatures, or any alterations attributable to the long-term frozen storage of the extracts, demonstrating that older human DNA extracts are a reliable source of such microbial signatures. No shared Core Microbiome (CM) was identified amongst the total 18 samples, but we identified certain species in association with the different decomposition stages, offering potential for the use of microbial signatures co-extracted with human DNA samples for PMI estimation in future. Unveiling the new significance of older human DNA extracts brings with it important ethical-legal considerations. Currently, there are no shared legal frameworks governing the long-term storage and use of human DNA extracts obtained from crime scene evidence for additional research purposes. It is therefore important to create common protocols on the storage of biological material collected at crime scenes. We review existing legislation and guidelines, and identify some important limitations for the further development and application of forensic microbiomics. 相似文献
37.
肥胖症及脂代谢紊乱的诊断 总被引:8,自引:0,他引:8
随着对脂肪细胞代谢的病理生理基础的进一步研究,以脂肪转移学说和脂肪细胞储存信号张力反馈学说为基础,为肥胖症及脂代谢紊乱的诊断提供了新的思路。腰围、甘油三酯水平作为腹型肥胖的主要评判标准,与肥胖、脂代谢紊乱密切相关。 相似文献
38.
目的:了解苹果在不同贮藏温度下相关营养与卫生指标的变化,以指导居民合理贮藏苹果。方法:将苹果称重编号随机分成两组,分别存放在冰箱(冷藏,4℃)和室温(平均18℃,12℃~22.5℃)贮藏60 d,分别于存放第0天、3天、7天、15天、30天、45天、60天观察苹果的外观,测定其失重率、还原糖含量、可滴定酸度、维生素C含量及亚硝酸盐含量,比较两种贮藏温度下相关指标的差异。结果:与室温贮藏的苹果相比,相同时间内冷藏贮藏的苹果失重率明显较低,第15天后的维生素C含量、第45天的可滴定酸度明显较高,第15天后的亚硝盐含量明显较低,但水分含量无显著差异。室温下贮藏的苹果第7~15天开始就出现感官、营养与卫生质量的明显改变,而冷藏贮藏的苹果在第30天才出现类似的变化。结论:冷藏贮藏能减缓苹果营养物质的减少及亚硝酸盐含量的增加,室温贮藏苹果的适宜时间为15 d内,冷藏贮藏苹果的适宜时间为30 d内。 相似文献
39.
Shyamal Das Ian Larson Paul Young Peter Stewart 《European journal of pharmaceutical sciences》2009,38(4):347-354
This study investigated the relationship between surface energy of micronized lactose, coarse lactose and salmeterol xinafoate and dispersibility from a mixture after storage at 75% RH. Surface energies, dispersibility, morphology, and the presence of amorphous domains were determined by inverse gas chromatography, twin stage impinger, scanning electron microscope and dynamic vapour sorption, respectively. The fine particle fraction of mixture decreased significantly in 4 weeks (P < 0.05), reaching a static level in 3 months. Amorphous content was not detected in the micronized lactose, coarse lactose and salmeterol xinafoate. After conditioning stored samples at 75% RH for 2 h, dispersive surface energy of both micronized and coarse lactose significantly decreased (P < 0.05), while the polar surface energy of all significantly increased (P < 0.05) resulting in significant increase in total surface energy after storage. After conditioning stored samples at 0% RH for 2 h, no significant difference was observed in any surface energy parameter. This study concluded that the total surface energy increased during storage at high RH due to the adhered surface moisture. The mechanism of decreased dispersibility was related to increased capillary/solid bridging interactions and to possible increased interaction of contiguous particles due to increased polar surface energy. 相似文献
40.
Tauer JT Lohse J König S Knöfler R 《Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie》2010,37(5):284-288
BACKGROUND: Citrate anticoagulation of blood results in non-physiologically low calcium concentration and rapid deterioration of platelet viability. Benzylsulfonyl-D-Arg-Pro-4-amidinobenzylamide (BAPA) as anticoagulant maintains the physiological calcium level and seems to retain platelet function (PF) over a time period of at least 24 h. We evaluated PF in BAPA-anticoagulated peripheral whole blood (WB) between 0.5 and 30 h after blood collection. METHODS: In WB from 21 healthy volunteers (15 women, 6 men, age range 19-57 years) platelet aggregation (PA) was determined by impedance method and ATP release by luminometry. Platelet response was tested by ADP (10 and 20 μmol/l) and collagen (1 and 2 μg/ml) between 0.5 and 30 h after blood collection. RESULTS: Parameters of ADP-induced PA showed stable values until 6.5 h after blood collection followed by a significant decline. PA in response to collagen was stable up to 25 h of storage. ATP release induced by collagen displayed a continuous, significant decrease over time. CONCLUSION: Preservation of platelet response in BAPA-anticoagulated blood depends on the applied agonist showing that collagen-induced PA is more stable compared to ADP known as a weak agonist in WB. 相似文献