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find Author "陈璇" 7 results
  • 高度近视黄斑裂孔患眼脉络膜厚度观察

    Release date:2019-11-19 09:24 Export PDF Favorites Scan
  • 钙离子通道基因突变与癫痫

    引起癫痫发作的神经元阵发性同步异常放电与离子通道密切相关。因此,编码钙离子通道的基因成为癫痫病因的候选基因之一。现有的抗癫痫药物(AEDs)被证明其作用机制包括抑制钙通道活性。但目前还缺乏高选择性的钙离子通道阻断剂。了解不同发作类型的癫痫患者不同类型的钙离子通道编码基因突变,对理解癫痫的发病机制和今后的精准诊疗很有必要。现对钙离子通道及其分型、编码基因和已发现在癫痫患者中的突变作一综述。

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  • 基于美国医学遗传学和基因组学会指南的基因检测报告解读

    随着精准医学的进一步开展,基因检测如雨后春笋般涌现,但检测报告质量却良莠不齐,亟待标准来规范。2015年,美国医学遗传学和基因组学会(American College of Medical Genetics and Genomics,ACMG)发布了关于测序技术在临床上应用的专业标准和指南,希望能为变异数据评级提供一个相对科学的标准。但2016年,Amendola等对比了美国9个中心实验室的测序解读结果,发现ACMG指南在具体实施过程中仍存在许多问题。所有实验室均通过该指南进行变异结果的判断,但其评级的相符率仅有34%。而对于ACMG指南的理解不同,是导致变异等级判断结论不一致的主要原因。作为临床医生,基因检测报告的解读是不可或缺的基本功,不仅要向实验室提供准确和完整的临床信息,也需要了解及掌握该指南,知道如何准确使用基因检测提供的证据来进行后续的诊断和治疗决策。现将基于ACMG指南,对3例癫痫患者基因检测报告进行解读,期望能更加形象具体地阐释该指南,使更多的临床医生更好的理解及运用指南。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
  • Effects of docosahexenoic acid on large conductance Ca+-activated K+ channels in retinal smooth muscle cells

    Objective To investigate the effects of docosahexenoic acid (DHA) on large conductance Ca2+-activated K+ (BK) channels in normal retinal artery smooth muscle cells (RASMCs). Methods Cultured human RASMCs (6 th-8 th generations) were used to patch clamp experiment. The open probabihties (NP0) in BK channels with different concentrations (0.0, 1.0, 3.0, 5.0, 7.5, 10.0 μmol/L) of DHA were recorded by patch clamp technique in single channel configuration. RASMCs were intervened by different concentrations (0.0, 1.0, 5.0 μmol/L) of DHA as control group, low and high doses of DHA groups, respectively. The protein expressions of β subunit of BK channels in RASMCs from three groups were measured by Western blot. Results The NP0 of BK channels were 0.044 4±0.001 2, 0.081 2±0.004 2, 0.209 0±0.006 1, 0.310 5±0.005 3, 0.465 0±0.007 8 and 0.497 7±0.014 5 with perfusate of 0.0, 1.0, 3.0, 5.0, 7.5, 10.0 μmol/L DHA. DHA activated BK channels in a dose-dependent manner (F=2.621,P<0.05). There was no significant difference in the protein expression of control group, low and high doses of DHA groups (F=11.657,P>0.05). Conclusion DHA can directly activate BK channels, no increasing in subunit expression of BK channels.

    Release date:2017-05-15 12:38 Export PDF Favorites Scan
  • 高血压性视网膜病变与高血压靶器官损害的相关关系

    Release date:2016-09-02 05:18 Export PDF Favorites Scan
  • Efficacy of fibrin glue after thyroidectomy: a systematic review

    ObjectiveTo systematically review efficacy application of fibrin glue (FG) after thyroidectomy.MethodsPubMed, EMbase, The Cochrane Library, ClinicalTrials.gov, CBM, CNKI, WanFang Data and VIP databases were searched to collect randomized controlled trials (RCTs) regarding the use of FG after thyroidectomy from inception to October 29th, 2019. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies. Then, meta-analysis was performed by using RevMan 5.3 software.ResultsA total of 15 RCTs involving 2 406 patients were included. The results of meta-analysis showed that compared with non-FG group, the use of FG could reduce postoperative drainage amount at the initial 24 hours (MD=−17.98, 95%CI −28.35 to −7.60, P=0.000 7), total amount of wound drainage (MD=−40.92, 95%CI −46.25 to −35.59, P<0.000 01), and postoperative discomfort (RR=0.48, 95%CI 0.35 to 0.66, P<0.000 01), as well as shorten drainage time (MD=−9.99, 95%CI −15.74 to −4.23, P=0.000 7) and stitches removal time (MD=−1.49, 95%CI −2.1 to −0.87, P<0.000 01). However, there was no statistically significant difference concerning postoperative short-term complications such as swelling (RR=0.78, 95%CI 0.48 to 1.28, P=0.32), recurrent laryngeal nerve injury (RR=0.83, 95%CI 0.21 to 3.29, P=0.79) and wound infection (RR=0.28, 95%CI 0.07 to 1.21, P=0.09) between two groups.ConclusionsThe current evidence shows that FG can reduce postoperative drainage amount and shorten postoperative recovery time in thyroidectomy. Due to the limited quality and quantity of included studies, more high quality studies are required to verify above conclusions.

    Release date:2020-08-19 01:33 Export PDF Favorites Scan
  • The mechanism of repressive effects of transthyretitin on the growth of human retinal microvascular endothelial cells under high glucose and hypoxia environment

    ObjectiveTo explore repressive effects of transthyretitin (TTR) on the growth of human retinal endothelial cells (hREC) under high glucose and hypoxia environment.MethodshRECs were divided into 8 groups, including normal glucose group (5.5 mmol/L glucose), hypoxia group, high glucose group (25.0 mmol/L glucose), high glucose and hypoxia group, normal glucose group+TTR, normal glucose and hypoxia group+TTR, high glucose group+TTR, high glucose and hypoxia group+TTR. Flow cytometry was used to analyze cellular apoptosis. The expression level of Akt, p-Akt, eNOS, Bcl-2 and Bax protein were measured by Western blot.ResultsHypoxia could induce apoptosis as the apoptosis rate of normal and hypoxia group was higher than normal group (χ2=25.360, P<0.05), high glucose and hypoxia group was higher that high glucose group (χ2=17.400, P<0.05). The cell apoptosis rate of high glucose and hypoxia group+TTR were increased significantly as compared with high glucose and hypoxia group (χ2=9.900, P<0.05). There was no statistically significant difference on the cell apoptosis rate between normal group and high glucose group, normal group+TTR and normal group, high glucose group+TTR and high glucose group, normal and hypoxia group+TTR and normal and hypoxia group (P>0.05). Western blot showed that the expression of Akt did not change significantly in all eight groups(F=2.450, P>0.05). Compared to normal group, the expression of p-Akt, eNOS, Bcl-2 in normal and hypoxia group were decreased (t=9.406, 5.306, 4.819), and the expression of Bax (t=−4.503) was increased (P<0.05). Compared to high glucose group, same trend was found in high glucose and hypoxia group (t=8.877, 7.723, 6.500, −14.646; P<0.05). The expression of p-Akt in normal and hypoxia group+TTR was higher than normal and hypoxia group (t=−5.024, P<0.05) , but there was no difference on the expression of eNOS, Bcl-2, Bax between these two groups (t=−2.235, −2.656, −0.272; P>0.05). Compared to high glucose and hypoxia group, the expression of p-Akt and Bcl-2 in high glucose and hypoxia group+TTR were decreased (t=4.355, 4.308; P<0.05), the expression of Bax was increased (t=−4.311, P<0.05), and there was no difference on the expression of eNOS between these two groups (t=−1.590, P>0.05). There was no statistically significant difference in the expression of p-Akt, eNOS, Bcl-2, Bax between high glucose group and normal group (t=−3.407, −4.228, −4.302, −2.076; P>0.05), normal group+TTR and normal group (t=−4.245, −4.298, −2.816, −1.326; P>0.05), high glucose group+TTR and high glucose group (t=4.016, −0.784, 0.707, −0.328; P>0.05).ConclusionUnder high glucose and hypoxia, transthyretitin suppress the growth of hREC through Akt/Bcl-2/Bax, but not Akt/eNOS signaling pathway.

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