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find Author "张欣" 15 results
  • 常染色体显性遗传夜间额叶癫痫的基因学研究现状

    常染色体显性遗传夜间额叶癫痫(Autosomal dominant nocturnal frontal lobe epilepsy,ADNFLE)首先由 Lugaresi 等描述,是第一个发现致病基因的癫痫综合征。迄今为止,已鉴定出的可能致病基因有CHRNA4、CHRNB2、CHRNA2、KCNT1、DEPDC5、CRH、CABP4,外显率 70%~80%,但已发现的基因仅能解释部分患者的病因,不同种族仍具有较大的遗传异质性。文章回顾了 ADNFLE 近几年的流行病学、临床体征、致病基因研究及基因测序技术等,为已发现的致病基因提供解释,并为未来寻找新的基因提供方向。

    Release date:2019-03-21 11:04 Export PDF Favorites Scan
  • Eye movement study in multiple object search process

    The aim of this study is to investigate the search time regulation of objectives and eye movement behavior characteristics in the multi-objective visual search. The experimental task was accomplished with computer programming and presented characters on a 24 inch computer display. The subjects were asked to search three targets among the characters. Three target characters in the same group were of high similarity degree while those in different groups of target characters and distraction characters were in different similarity degrees. We recorded the search time and eye movement data through the whole experiment. It could be seen from the eye movement data that the quantity of fixation points was large when the target characters and distraction characters were similar. There were three kinds of visual search patterns for the subjects including parallel search, serial search, and parallel-serial search. In addition, the last pattern had the best search performance among the three search patterns, that is, the subjects who used parallel-serial search pattern spent shorter time finding the target. The order that the targets presented were able to affect the search performance significantly; and the similarity degree between target characters and distraction characters could also affect the search performance.

    Release date:2017-04-13 10:03 Export PDF Favorites Scan
  • 脉络膜骨瘤吲哚青绿与荧光素眼底血管造影观察一例

    Release date:2016-09-02 06:05 Export PDF Favorites Scan
  • The Relationship of Obesity with Asthma Control and Airway Inflammatory Phenotype

    ObjectiveTo explore the relationship of obesity with asthma control and airway inflammatory phenotype. MethodsA cross-sectional prospective study was conducted on 101 patients with asthma. Asthma control level was assessed by Asthma Control Test (ACT) and GINA. Furthermore, height and weight were measured and body mass index (BMI) was calculated. Lung function and sputum induction were performed, and differential cell count was obtained from induced sputum and peripheral blood. ResultsNinety eligible patients were divided into 3 groups as a normal-weight group (n=54), an over-weight group (n=21) and an obesity group (n=15). The asthma control levels were different among three groups (P=0.019 for ACT and P=0.014 for GINA, respectively). BMI was positively related to the number of neutrophils in induced sputum (r=0.29, P=0.039). Increased BMI deteriorated asthma control levels assessed by ACT[OR=1.84, 95% CI (1.04, 3.23), P=0.035] and GINA[OR=2.27, 95% CI (1.27, 4.07), P=0.006] in a dose-response manner. Obesity indicated poor asthma control assessed by ACT (P=0.015) and GINA (P=0.008) after adjusting for age, sex, duration of asthma, FEV1%pred, smoking, and the number of neutrophils in peripheral blood. ConclusionsIn Chinese individuals with asthma, neutrophilic inflammatory phenotype dominates the airway inflammation of obesity-associated asthma. Obesity is a risk factor that deteriorates asthma control level in a significant dose-response manner.

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  • 过敏性鼻炎的临床控制评估问卷

    Release date:2016-10-10 10:33 Export PDF Favorites Scan
  • 远程会诊模式应用于养老院治疗下肢静脉性溃疡患者的疗效观察

    目的探讨远程会诊模式应用于养老院治疗下肢静脉性溃疡患者的疗效。 方法选择2015年1月-6月社区养老院内的40例已确诊的下肢静脉性溃疡患者,随机分为对照组和研究组,每组20例。对照组由养老院的医生给予下肢静脉性溃疡治疗;研究组由三级医院伤口治疗中心的医务人员通过远程会诊模式,指导养老院的医务人员进行下肢静脉性溃疡治疗。治疗3个月后对患者进行疗效观察。 结果对照组无效12例,有效7例,显效1例,无治愈患者,总有效率为40%;研究组无效1例,有效12例,显效7例,治愈2例,总有效率为95%。两组总有效率比较差异有统计学意义(χ2=13.789,P<0.001)。 结论远程会诊模式应用于养老院治疗下肢静脉溃疡的疗效显著。

    Release date:2016-10-02 04:54 Export PDF Favorites Scan
  • Knowledge graph application in rare diseases: a scoping review

    ObjectiveTo conduct a scoping review of studies on the application of knowledge mapping in the field of rare diseases at home and abroad, in order to clarify the content and status of application and provide references for future research in this field. MethodsRelevant studies in PubMed, Web of Science, Embase, MEDLINE, CNKI, WanFang Data, VIP, and CBM databases were searched, using the Joanna Briggs Institute Scoping Review Guidelines in Australia as the methodological framework, and the search time frame was from the establishment of the database to June 1, 2023. ResultsTwenty-five papers were included, and the main applications of knowledge graphs in the field of rare diseases were knowledge management, assisted diagnosis, drug repositioning and decision support, involving techniques such as knowledge representation, knowledge extraction, knowledge reasoning, knowledge fusion and knowledge storage.ConclusionKnowledge graphs have shown positive results in fusing and exploiting multi-source information, aiding disease prediction and diagnosis and drug development, but further technical improvements are needed.

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  • 视网膜光凝术后眼前段改变的超声生物显微镜观察

    Release date:2016-09-02 06:05 Export PDF Favorites Scan
  • Effectiveness of suture anchor fixation combined with Nice knot strapping via longitudinal patellar drilling in treatment of patellar inferior pole fracture

    Objective To investigate effectiveness of suture anchor fixation combined with Nice knot strapping via longitudinal patellar drilling in the treatment of patellar inferior pole fractures. Methods A clinical data of 37 patients with unilateral patellar inferior pole fracture who met the selection criteria between June 2017 and June 2021 was retrospectively analyzed. Among them, 17 cases were treated with the suture anchor fixation combined with Nice knot strapping via longitudinal patellar drilling (group A), and 20 cases were treated with the traditional Kirschner wire tension band technique (group B). There was no significant difference in terms of gender, age, body mass index, fracture side, combined medical disease, and preoperative hemoglobin between the two groups (P>0.05). Operation time, intraoperative blood loss, postoperative complications, fracture healing time, knee range of motion, and knee function Bostman score (range of motion, pain, daily work, muscle atrophy, walking aids, knee effusion, soft leg, and stair climbing) and grading were recorded in both groups at last follow-up. Results There was no significant difference in operation time and intraoperative blood loss between the two groups (P>0.05). All incisions healed by first intention. All patients were followed up 1-2 years, with an average of 1.7 years. X-ray films reexamination showed that all fractures in group A healed, while 2 cases in group B did not heal. There was no significant difference in bone healing time between the two groups (P>0.05). At last follow-up, the knee range of motion, the range of motion score of Bostman score, total score and effectiveness grading in group A were significantly better than those in group B (P<0.05). There was no significant difference in the other items of Bostman scores between the two groups (P>0.05). During follow-up, 2 cases of internal fixation failure and 1 case of internal fixator irritation occurred in group B, and no complication related to internal fixation occurred in group A. The occurrence of complications was significantly lower in group A than in group B (P<0.05). ConclusionCompared with the traditional Kirschner wire tension band technique, the suture anchor combined with Nice knot strapping via longitudinal patellar drilling for the patellar inferior pole fractures has the advantages of simple operation, reliable fixation, early flexion and extension activity, and better functional recovery of knee joint.

    Release date:2023-06-07 11:13 Export PDF Favorites Scan
  • Investigation of Approval Degree of Breast Conserving Therapy and Breast Reconstruction of Women with Breast Diseases

    Objective To study the cause of the low rate of breast conservation and reconstruction by investigating the approval degree of breast conserving therapy and breast reconstruction of women with breast diseases, to help the breast surgeons make better communication with the patients and make more pertinent choices of therapeutic methods. Methods The age, occupation, educational background, the attitudes towards breast conserving therapy and breast reconstruction, and the choice of operative method of breast reconstruction of 139 patients with breast cancer and 224 patients with benign breast disease were investigated by questionnaire. Results In breast cancer group, 23.9% (28/117) of patients chose breast conserving therapy and 35.9%(42/117) of patients chose breast reconstruction, while the rates of breast conservation and reconstruction were 53.3% (106/199) and 63.8% (127/199) in benign breast disease group. In both groups, the higher rates of breast conservation and reconstruction were associated with better educational background (in breast cancer group: P=0.029, P=0.296; in benign breast disease group: P=0.081, P=0.019) and lower age (all Plt;0.05). Patients engaged in commerce showed higher rates of breast conservation and reconstruction (in breast cancer group: P=0.013, P=0.042; in benign breast disease group: P=0.032, P=0.044). Age, occupation or educational background was not related with the choice of operative method of breast reconstruction (Pgt;0.05). Conclusions Patients with lower age, better educational background, and better job condition have ber desire of breast conservation and reconstruction. Breast surgeons should enhance communication with those patients about relevant information of breast conservation and reconstruction to make the more pertinent choice of therapeutic methods.

    Release date:2016-09-08 10:49 Export PDF Favorites Scan
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