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find Author "蒋莉" 9 results
  • 玻璃体切割手术后眼内低灌注致脉络膜三角综合征合并视网膜中央动脉阻塞一例

    Release date:2020-01-11 10:26 Export PDF Favorites Scan
  • CACNA1H基因变异与神经系统疾病

    T型钙离子通道是一种低电压依赖性介导钙离子跨膜转运的膜蛋白,由于其特殊的电生理特性,在调节神经元兴奋性中具有重要作用。目前研究发现CACNA1H突变所致T型钙离子通道异常与多种神经系统疾病发生密切相关,如特发性全面性癫痫,孤独症谱系疾病,肌萎缩侧索硬化等,虽然其作为易感基因在疾病发生发展中的作用已得到一定证实,但致病机制尚不明确,本综述针对T型钙通道在神经系统中的电生理学作用,及CACNA1H突变与部分神经系统疾病之间关系进行探讨,旨在为突变致病机制的研究提供思路,并为后续精准治疗提供依据。

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  • SCN8A基因相关癫痫研究进展

    SCN8A基因编码电压门控钠离子通道亚基Nav1.6,该通道广泛分布于中枢神经系统,是动作电位产生及传导的重要分子基础。SCN8A基因突变与一系列由轻到重的疾病表型谱相关,其中包括良性家族性婴儿惊厥、中间型癫痫、癫痫性脑病、智力障碍、孤独症谱系疾病、孤立性肌阵挛等。文章旨在在提高医务人员对SCN8A基因相关疾病认识,将围绕发病机制、临床特征、遗传学特点、治疗等方面进行阐述。

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  • KCNT1 基因变异相关癫痫及其治疗的研究进展

    KCNT1基因编码含有1 235个氨基酸的钠离子门控钾离子通道的α亚基,对调节神经元的膜兴奋性发挥着重要作用,其致病性变异可通过影响钾通道的功能导致癫痫。KCNT1基因变异相关癫痫患者表型具有显著临床异质性,可出现从轻度表型到严重表型的系列癫痫表型谱,为难治性癫痫大多数,严重表型患者可伴有运动、智能发育落后或倒退,预后极差。早期识别KCNT1基因变异相关癫痫,及时进行KCNT1基因检测,有利于KCNT1基因变异相关癫痫患者的精准治疗及预后评估。在此,本文就KCNT1基因变异相关癫痫的发病机制、临床特点及其治疗进行综述。

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  • Efficacy and safety of ketogenic diet in tuberous sclerosis complex with epilepsy

    ObjectiveTuberous sclerosis complex (TSC) is a multiorgan disorder and mostly associated with intractable epilepsy. Now several individual reports suggest that epilepsy in children with TSC might benefit from a ketogenic diet (KD). We prospectively studied the curative effect of 14 children with the KD in the treatment of TSC with epilepsy. MethodsBetween 2008 and 2015, we enrolled 14 children with TSC and epilepsy who received KD treatment in Shenzhen Children's Hospital and followed up for at least three months.Outcome was measured by the change of seizure frequency before and after the KD in the use of anticonvusant drugs, adverse effects, and change in cognitive function. Results14 children aged 8 months to 7 years were included. 7/14 (50%) children had a > 50% reduction in seizure frequency at 3 months on the diet, 5/14 (36%) children had a seizure free response. 12/14 (86%) children with refractory epilepsy, 6/12 (50%) children had a > 50% reduction in seizure frequency, 2 children had reduced medications, one child did not use any antiepileptic drugs during KD. 6 of 12 children with developmental delays had cognitive function improvement. ConclusionsKD is a generally effective and safe therapy for TSC children with epilepsy, especially for refractory epilepsy. KD could reduce antiepileptic drugs, and also improve children's cognitive function.

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  • Comparison of results of two kinds of blood ketone instrument in children epilepsy patients with ketogenic diet

    Objective Compare and analyze the value of β-hydroxybutyrate from two kinds of blood ketone instruments (Optium Xceed blood ketone body instrument from American Abbott laboratories and TBS-1 blood ketone body instrument from Beijing Yicheng company), and provide instructions for clinical applications. Methods Select 7 children patients with epilepsy which have a response to ketogenic diet. The two kinds of blood ketone instruments were used to test blood ketone value of whole blood synchronously in five different periods, and compare the 70 results. Results The measuring results obtained from these two kinds of blood ketone body instruments have statistical difference significantly. The value acquired from TBS-1 blood ketone body instrument is lower than that from Optium Xceed blood ketone body instrument. Measurements using a paired t test, the value of t=12.14, P<0.01. The results from two kinds of blood ketone body instruments are statistically significant. Conclusion The values from 2 kinds of blood ketone instruments are different, which would influence the clinical judgment. At present, the key problem is that there is lack of special blood ketone measure technology for patients with ketogenic diet. How to improve the measure accuracy of high-level blood ketone value remains the future work.

    Release date:2018-01-20 10:51 Export PDF Favorites Scan
  • 急性旁中心中层黄斑病变一例

    Release date:2020-05-19 02:20 Export PDF Favorites Scan
  • Efficacy of jejunostomy combined with Ivor-Lewis or McKeown operation in the treatment of middle and lower esophageal cancer: A retrospective cohort study

    ObjectiveTo investigate the effect of jejunostomy combined with Ivor-Lewis or McKeown operation on the treatment of middle and lower esophageal cancer.MethodsThe clinical data of 127 patients with middle and lower esophageal cancer admitted to our hospital from June 2018 to October 2019 were retrospectively analyzed, including 89 males and 38 females, aged 62.82±8.65 years. The patients were divided into an Ivor-Lewis group (IL group, 72 patients) and a McKeown group (MK group, 55 patients) according to surgical methods. Patients in the IL group received jejunostomy combined with Ivor-Lewis operation, and patients in the MK group received jejunostomy combined with McKeown operation. The operation time, postoperative bedside electrical impedance tomography (EIT) parameters, postoperative inflammatory factor levels, postoperative complications and rehabilitation of the two groups were compared.ResultsThe operation time (262.65±49.78 min vs. 303.04±60.13 min), postoperative eating time (10.54±2.22 d vs. 11.47±2.49 d) and postoperative hospital stay (14.78±2.47 d vs.15.72±2.36 d) in the IL group were significantly shorter than those in the MK group (P<0.05). The blood loss (156.13±52.43 mL vs. 158.87±48.47 mL) and the number of lymph node dissection (29.47±8.88 vs. 30.17±9.80) in the IL group were less than those in the MK group, but the differences were not statistically significant (P>0.05). The repeated measurement analysis of variance showed that the time point could significantly affect tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), and IL-8 levels (Ftime point=520.543, 272.379, 147.688, all P<0.05), but the surgical methods and the interactive effect of time point and surgical methods did not affect the levels of TNF-α, IL-6 and IL-8 (P>0.05). Postoperative bedside EIT image parameters were statistically different on the postoperative 1 d, 3 d, 5 d and 7 d between the two groups (P<0.05). Compared with the MK group, the incidences of recurrent laryngeal nerve injury, arrhythmia, pulmonary infection and atelectasis, anastomotic leakage, gastric wall necrosis and stump fistula, secondary thoracotomy and abdominal hemostasis, and intestinal obstruction were lower, but the differences were not statistically different (P>0.05). The recurrence rate of patients in the IL group within 6 months was lower than that in the MK group, but the difference was not statistically significant (8.33% vs. 9.09%, P>0.05).ConclusionJejunostomy combined with Ivor-Lewis or McKeown surgery have equivalent effects on patients with middle and lower esophageal cancer.

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  • Glucocorticoids for Duchenne Muscular Dystrophy: A Meta-Analysis

    ObjectiveTo systematically review the therapeutic effects and safety of glucocorticoids (GC) for Duchenne muscular dystrophy (DMD). MethodsDatabases such as PubMed, EMbase, CENTRAL, CNKI, WanFang Data, VIP and CBM were electronically searched from the establishment of the databases till December 2011. All randomized controlled trials (RCTs) about GC for DMD were included. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data, and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.0.2 software. ResultsA total of 6 studies involving 303 DMD children were included. The results of meta-analysis showed that after 6 month treatment of GC (deflazacort), patients' symptoms were obviously improved in average muscle strength, lift weight ability, forced vital capacity (FVC) of the lung, emotional factor scores and total scores in Quality of life (QoL), Gower's time, nine meters walking time (T9 m), and four-stair climbing time (T4 s). However, the trial group showed more weight gain, behavioural changes, increased appetite, cushingoid appearance, and excessive hair growth. The incidences of osteoporosis/fracture, hypertension, diabetes, and cataract were not increased. ConclusionGC could improve muscle strength and function, stabilize pulmonary function, prolong independent walk time, and improve QoL of DMD patients. However, adverse reaction caused by GC should be taken caution.

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