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中华生物医学工程杂志
中华生物医学工程杂志

钟南山

双月刊

1674-1927

cjbme@vip.tom.com

020-81340157

510182

广东省广州市东风西路195号广州医学院内28栋1楼

中华生物医学工程杂志/Journal Chinese Journal of Biomedical EngineeringCSTPCD
查看更多>>中华医学会、广州医学院主办。本刊办刊宗旨:密切关注并报道生物医学工程学研究的新理论、新方法、新技术,跟踪生物医学工程学在临床中的最新应用成果,服务广大临床医生,促进生物医学工程学的学科发展。生物医学工程的发展一直是临床医学进步的动力,而临床医学所需要解决的问题则是生物医学工程创新的源泉。临床医生、科学家和产业界工程技术人员的紧密合作将为人类创造更美好的健康长寿的新生活。内容和栏目:(1)编者导读;(2)专论;(3)论著;(4)新技术与临床;(5)新技术研发;(6)生物技术;(7)综述;(8)专题讲座。
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    内源性修复细胞募集支架与组织工程自体软骨移植修复兔膝关节软骨缺损的长期疗效对比研究

    梁菁勾禹夏荣林邢飞...
    121-128页
    查看更多>>摘要:目的 对比研究内源性修复细胞募集支架与组织工程自体软骨移植修复关节软骨缺损的长期疗效,为内源性修复细胞募集支架的临床应用及转化提供参考。 方法 利用兔股骨滑车全层软骨缺损模型,分别予以旷置(对照组)、组织工程自体软骨填充(TE-MACI组)及内源性修复细胞募集支架填充(DCM-RAD/SKP组)进行干预,分别于术后12个月行核磁共振(MRI)检查,术后18个月行大体观评价、微型计算机断层成像(micro-CT)检查、组织学评价及蛋白表达水平分析。 结果 修复术后12个月MRI检查结果显示TE-MACI组和DCM-RAD/SKP组的缺损修复区则几乎完全被正常软骨密度影填充,二者的T2 mapping序列T2值接近周边正常关节软骨组织,显著低于对照组。修复术后18个月的大体观及组织学评价表明TE-MACI组和DCM-RAD/SKP组缺损修复区成透明软骨样修复,与临近正常关节软骨融合良好,其内部存在一定含量的GAG成分及典型的软骨陷窝结构,修复效果显著优于对照组。micro-CT结果可见对照组的骨密度[BMD (360.87±5.96) mg/cm3]和骨体积分数[BV/TV (56.47±1.62)%]均显著高于TE-MACI组和DCM-RAD/SKP组,且后二者间差异无统计学意义。蛋白表达分析结果显示TE-MACI组和DCM-RAD/SKP组的与关节软骨修复相关蛋白Ⅱ型胶原、Ⅹ型胶原以及软骨蛋白聚糖(aggrecan)的表达水平明显高于对照组,而前两组间差异无统计学意义。 结论 内源性修复细胞募集支架能有效修复关节软骨缺损,与组织工程自体软骨移植的长期疗效相当,未见严重远期退变,这种利用宿主自身巨大再生潜力的治疗策略有望成为一种仅需单次手术即可完成的关节软骨组织再生治疗方案应用于临床。 Objective This study aimed to compare the long-term efficacy of endogenous repair cell recruitment scaffold and tissue engineering autologous cartilage transplantation for the repair of articular cartilage defects and to provide a reference for the clinical application and transformation of endogenous repair cell recruitment scaffold. Methods Rabbits with full-thickness cartilage defects in the femoral trochlea were treated with open placement (Control group), tissue engineered autologous cartilage filling (TE-MACI group), or endogenous repair cell recruitment scaffold filling (DCM-RAD/SKP group). Magnetic resonance imaging (MRI) was performed 12 months after surgery, and macroscopic evaluation, micro-computed tomography (micro-CT), histological evaluation and protein expression level analysis were performed 18 months after surgery. Results MRI at 12 months after surgery revealed that the defect repair area in the TE-MACI and the DCM-RAD/SKP groups was almost filled by normal cartilage, as shown by the density shadow. The T2 values of the T2 mapping sequence of the two groups were close to that of the surrounding normal articular cartilage and significantly lower than that of the Control group. The macroscopic evaluation and histological evaluation at 18 months after surgery showed that the defect repair area in the TE-MACI and DCM-RAD/SKP groups contained hyaline cartilage, which was well fused to the adjacent normal articular cartilage. Some of the cartilage comprised a glycosaminoglycan component and exhibited a typical cartilage lacuna structure in the defect repair area. Moreover, the repair effect was significantly better than that in the Control group. Micro-CT revealed that bone mineral density [BMD (360.87±5.96) mg/cm3] and bone volume-to-tissue volume ratio [BV/TV (56.47±1.62) %] in the Control group were significantly higher than those in the TE-MACI and DCM-RAD/SKP groups, but no statistical significance between the latter two groups. Protein expression analysis showed that the expression levels of collagen Ⅱ (Col 2), collagen Ⅹ (Col 10) and aggrecan, which are related to articular cartilage repair, were significantly higher in the TE-MACI group and DCM-RAD/SKP group than those in the Control group, but no statistical significance between the former two groups. Conclusion Endogenous repair cell recruitment scaffolds can effectively repair articular cartilage defects, which indicates that their long-term efficacy is comparable to that of tissue engineering autologous cartilage transplantation without severe long-term degeneration. This therapeutic strategy leverages the great regenerative potential of the host itself and is expected to be a clinically significant treatment modality for regenerating the articular cartilage, which can be completed with a single surgery.

    组织工程自体软骨细胞移植软骨再生内源性修复

    去泛素化酶通过肿瘤坏死因子-α途径对小鼠心肌衰老的作用

    滕敬华胡恋程飞何茜...
    129-134页
    查看更多>>摘要:目的 探讨去泛素化酶(CYLD)在小鼠心肌细胞衰老中的作用及机制。 方法 选取野生型FVB(WT)小鼠和CYLD过表达(CYLD+/+)小鼠构建自然衰老模型。2月龄雄性WT小鼠(WT-2M,n=10)和CYLD+/+小鼠(CYLD-2M,n=10)作为年轻组,普通饲养17.5月(WT-17.5M,CYLD-17.5M,n=10)作为年老组。小动物超声检测心功能[左室短轴缩短率(LVFS)、左室射血分数(LVEF)],蛋白免疫印迹检测心肌组织衰老相关蛋白p53、p21、p16表达水平,实时荧光定量PCR(qPCR)检测心肌组织衰老相关分泌表型(SASP) [细胞因子白介素-1β(IL-1β)、基质金属蛋白酶3(MMP3)、趋化因子CXCL1(CXCL1)]转录水平。转录组测序检测CYLD调控心肌细胞衰老的信号通路,对肿瘤坏死因子α(TNF-α)通路行qPCR验证。 结果 与WT-17.5M小鼠比较,CYLD-17.5M小鼠心功能LVEF和LVFS值增高(均P<0.05);p53、p21、p16蛋白表达水平减低(均P<0.05),IL1B、MMP3、CXCL1转录水平也下降(均P<0.05)。与WT-2M小鼠比较,WT-17.5M小鼠p53、p21、p16蛋白表达明显升高(均P<0.01),IL1B、MMP3及CXCL1转录水平上调(均P<0.01)。转录组测序发现WT-17.5M小鼠较WT-2M小鼠表达上调的信号通路64个,CYLD-17.5M小鼠较WT-17.5M小鼠表达下调的信号通路37个,二者共有的差异信号通路29个。选取TNF-α通路行qPCR验证,WT-17.5M较WT-2M小鼠TNF-α转录水平明显上调(P<0.05),且高于CYLD-17.5M小鼠(P<0.05)。 结论 CYLD对心肌自然衰老起保护作用,TNF-α通路介导可能是CYLD保护心肌衰老的作用机制之一。 Objective To investigate the role of the deubiquitinase Cylindromatosis (CYLD) in aging of mouse cardiomyocytes and the underlying mechanism. Methods Wild-type (WT) FVB mice and CYLD-overexpressing (CYLD+/+) mice were used to establish mice models of natural aging. Then, 2-month-old male wild-type FVB mice (WT-2M, n=10) and CYLD+/+ mice (CYLD-2M, n=10) were assigned to the young age group, and those routinely raised for 17.5 months (WT-17.5M, CYLD-17.5M, n=10 each) to the old age group. Small animal ultrasonography was used to measure the cardiac function (LVEF, LVFS), Western blotting was used to examine the expression of aging-related proteins p53, p21, and p16 in myocardial tissues, and qPCR was used to determine the transcription of senescence associated secretory phenotypes (SASP) interlenkin-1β (IL-1β), matrix metalloproteinase 3 (MMP3) and CXC chemokine ligand 1 (CXCL1) in myocardial tissues. Transcriptome sequencing was used to detect the signaling pathways by which CYLD regulates cardiomyocyte senescence. Tumor necrosis factor-α (TNF-α) pathway was verified by qPCR. Results Compared with WT-17.5M mice, CYLD-17.5M mice presented better cardiac function with higher values of LVEF and LVFS (all P<0.05), lower expression levels of p53, p21, and p16 proteins (allP<0.05), and less transcription of IL1B, MMP3, and CXCL1 (allP<0.05). Compared with WT-2M mice, the WT-17.5M mice had significantly higher expression of p53, p21 and p16 proteins (allP<0.01), and up-regulated transcription levels of IL1B, MMP3 and CXCL1 (allP<0.01). Transcriptome sequencing showed 64 up-regulated signaling pathways in WT-17.5M mice when comparing to WT-2M mice, and 37 down-regulated signaling pathways in CYLD-17.5M mice when comparing to WT-17.5M mice there were 29 pathways with differential signaling when comparing CYLD-17.5M to WT-17.5M mice. qPCR with TNF-α pathway selected for verification showed significantly increased TNF-α transcription in WT-17.5M mice than in WT-2M mice and CYLD-17.5M mice (allP<0.05) . Conclusion CYLD plays a protective role in natural cardiomyocyte senescence. Mediation of the TNF-α pathway may be one of mechanisms underlying the effect of CYLD against myocardial aging.

    去泛素化酶小鼠心肌细胞衰老肿瘤坏死因子-α

    丹参酮ⅡA介导TGF-β1调控心肌细胞自噬与凋亡改善心力衰竭大鼠心肌重构

    庞慧魏鹏付强杨浩...
    135-142页
    查看更多>>摘要:目的 探讨丹参酮ⅡA通过介导TGF-β1发挥对心力衰竭大鼠心肌细胞自噬与凋亡的调控作用。 方法 通过腹主动脉缩窄的方法建立大鼠的心力衰竭模型,术后腹腔注射丹参酮ⅡA,假手术组(Sham)为对照。超声心动图检测心脏结构与功能,HE染色与Masson染色观察心肌纤维形态与胶原容积分数。TUNEL染色与免疫印迹(Cleaved-Caspase-3、Bax、Bcl-2)分析细胞凋亡程度,自噬双标腺病毒mRTF-GFP-LC3荧光显微镜测定自噬水平与自噬流活性,免疫印迹检测自噬相关蛋白(Beclin 1、LC3-Ⅱ/LC3-Ⅰ)表达水平。ELISA检测心肌细胞培养上清中TGF-β1含量的变化。 结果 建模成功后,丹参酮ⅡA显著降低心衰组升高的左室舒张末期内径[(7.45±0.67)mm比(9.72±0.28)mm]与收缩末期内径,升高心衰组降低的左室射血分数与短轴缩短率(P<0.05)。Masson染色心肌组织胶原容积分数与TUNEL染色心肌细胞凋亡百分比,心衰组明显高于Sham组,丹参酮ⅡA组则是低于心衰组(P<0.05)。与Sham组相比,心衰组Cleaved-Caspase-3、Bax表达上调,Bcl-2表达下调。与心衰组相比,丹参酮ⅡA组Cleaved-Caspase-3、Bax表达下调,Bcl-2表达上调(P<0.05)。心肌细胞内荧光斑点总数、红色荧光斑点百分比、Beclin 1与LC3-Ⅱ/LC3-Ⅰ比值,以及心肌细胞培养上清中TGF-β1水平心衰组均高于Sham组,丹参酮ⅡA组低于心衰组(P<0.05)。TGF-β1组比心衰组心肌细胞自噬与凋亡水平更高,SB431542预处理后,TGF-β1激活自噬与凋亡水平显著下降(P<0.05)。 结论 TGF-β1可加重心衰心肌细胞激活的自噬与凋亡,丹参酮ⅡA可能通过降低心肌细胞TGF-β1分泌,抑制自噬与凋亡的过度激活,减轻心肌细胞损伤,逆转心肌重构,改善心功能。 Objective To investigate the mediating effect of Tanshinone ⅡA (Tan ⅡA) on transforming growth factor-β1 (TGF-β1) and its regulation on cardiomyocytes autophagy and apoptosis in rats with heart failure (HF) . Methods HF was modeled in rats by abdominal aorta coarctation, and Tan ⅡA was injected intraperitoneally after operation. A sham operation (Sham) group was included as the control group. The changes in cardiac structure and function were evaluated by echocardiography in vivo. The myocardial fiber morphology and collagen volume fraction (CVF) were determined by HE staining and Masson staining. The degree of cardiomyocytes apoptosis was analyzed by TUNEL staining and Western blotting (Cleaved-Caspase-3, Bax and Bcl-2). Fluorescence microscopy was used to determine the level of autophagy and the activity of autophagic flux by tandem mRFP-GFP-LC3 adenovirus reporting system. The autophagy-related proteins (Beclin 1 and LC3-Ⅱ/LC3-Ⅰ) levels were examined by Western blotting. The changes of TGF-β1 level in the culture supernatant of cardiomyocytes was determined by ELISA. Results After successful modeling, Tan ⅡA significantly reduced the enlarged left ventricular end-systolic and end-diastolic dimensions[ (7.45±0.67) mm vs (9.72±0.28) mm], and increased the lowered left ventricular ejection fraction and fractional shortening in HF rats. The CVF (Masson stained) and cardiomyocytes apoptosis rate (TUNEL stained) in myocardial tissues in HF group were significantly higher than those in Sham group, while these values were lower in Tan ⅡA group than those in HF group (all P<0.05). Compared with the Sham group, the expressions of Cleaved-Caspase-3 and Bax were up-regulated, but the expression of Bcl-2 was down-regulated, in HF group. Compared with the HF group, the expressions of Cleaved-Caspase-3 and Bax were down-regulated, while the expression of Bcl-2 was up-regulated in Tan ⅡA group (allP<0.05). The total number of fluorescent spots, the percentage of red fluorescent spots, LC3-Ⅱ/LC3-Ⅰ ratio in cardiomyocytes, and the level of TGF-β1 in the culture supernatant of cardiomyocytes in the HF group were higher than those in the Sham group, while these values were lower in Tan ⅡA group than those in the HF group (allP<0.05). The levels of autophagy and apoptosis in cardiomyocytes in TGF-β1 group were higher than those in HF group. After SB431542 pretreatment, the levels of autophagy and apoptosis activated by TGF-β1 decreased significantly (allP<0.05) . Conclusion In HF, TGF-β1 may aggravate the activation of cardiomyocytes autophagy and apoptosis. Tan ⅡA may reduce TGF-β1 produced by cardiomyocytes, inhibit excessive activation of autophagy and apoptosis, alleviate cardiomyocytes injury, reverse myocardial remodeling, and thereby improve cardiac function.

    心力衰竭丹参酮转化生长因子自噬凋亡

    硒化亚铜纳米颗粒通过化学动力疗法诱导胃癌细胞铁死亡的研究

    梁敏史洁云张翔
    143-148页
    查看更多>>摘要:目的 探讨硒化亚铜(Cu2Se)纳米的制备、物化表征及其对胃癌的抗肿瘤效应。 方法 采用透射电镜,水合粒径分析,Zeta电位分析及紫外吸收光谱分析方法分析Cu2Se纳米的形貌、粒径大小及类芬顿性能,同时采用激光共聚焦、细胞毒性(CCK-8)、Transwell实验评估该纳米的体外抗肿瘤作用效应毒性,最后构建单侧皮下荷瘤模型探究Cu2Se纳米的体内抗肿瘤作用。 结果 制备的Cu2Se纳米为100 nm左右的类圆形中空结构,可催化过氧化氢生成单线氧。激光共聚焦实验表明Cu2Se可以促进胃癌细胞活性氧生成,诱导铁死亡发生;CCK-8实验表明,Cu2Se纳米对胃癌细胞具有浓度依赖性抑制增殖作用;Transwell实验表明,Cu2Se纳米能抑制胃癌细胞的侵袭迁移能力;裸鼠单侧皮下荷瘤模型表明Cu2Se纳米能安全高效抑制肿瘤增殖。 结论 Cu2Se纳米具有良好的类芬顿效能,可诱导胃癌铁死亡发生,具备良好的体内外抑制抗肿瘤效应,是胃癌治疗的一种潜在新方法。 Objective To investigate the preparation, physicochemical characterization of cuprous selenide nanoparticles (Cu2Se NPs), and their antitumor effect on gastric cancer (GC) . Methods The morphology, size and Fenton-like properties of Cu2Se NPs were analyzed by transmission electron microscopy (TEM), size distributions, Zeta potential and UV absorption spectroscopy. Meanwhile, confocal laser scanning microscopy (CLSM), Cell Counting Kit-8 (CCK-8) and Transwell experiments were used to evaluate the in vitro antitumor effect of Cu2Se NPs. Finally, subcutaneous tumor-bearing mice were constructed to explore the in vivo antitumor effect of Cu2Se NPs. Results Our as-designed Cu2Se NPs showed quasi-circular hollow structures with ~100 nm, which could catalyze the generation of singlet oxygen from hydrogen peroxide. CLSM results showed that Cu2Se could help generate reactive oxygen species (ROS) and induce ferroptosis in GC cells. CCK-8 results showed that Cu2Se had a concentration-dependent inhibitory effect on the proliferation of GC ells. Transwell experiments showed that Cu2Se could suppress the migration and invasion capacities of GC cells. Tumor-bearing nude mice demonstrated that Cu2Se could efficiently reduce proliferation of GC with high safety. Conclusion Cu2Se NPs have good Fenton-like efficacy, which could induce ferroptosis, and showed good inhibitory effects on GC in vitro and in vivo. Therefore, our research serves a potential novel method for GC treatment.

    硒化亚铜纳米药物化学动力疗法铁死亡

    牙冠延长术数字化导板的分类设计与体外模型研究

    李怡刘明月吕季喆周建锋...
    149-156页
    查看更多>>摘要:目的 对牙冠延长术数字化手术导板进行分类设计,并评价导板的应用效果。 方法 个性化设计被动萌出不足的上颌牙列模型20个,分为4组:自由手组(CG)、Ⅰ型导板组(T1G)、Ⅱ型导板组(T2G)、Ⅲ型导板组(T3G),每组5个模型。计算机辅助设计和制作手术导板,由同一术者分别在自由手及三类数字化导板的辅助下进行牙冠延长术。记录手术时间,由第三方专家对手术效果进行评分。同时,邀请专科医生对三类手术导板的应用价值进行同行评议。 结果 手术效率方面,CG、T1G、T2G、T3G用时分别为:(17.20±0.85)min、(10.56±1.14)min、(6.79±0.19)min、(5.78±0.36)min,4组间差异均有统计学意义(P<0.05)。手术效果方面,3个导板组的牙龈形态和位置评分均显著高于CG(P<0.05),T3G的龈缘弧度、对称性评分显著高于T1G和T2G(P<0.05);此外,T3G牙槽骨弧度、高度和对称性评分显著高于其它组(P<0.05),而使用探针辅助测量的T1G和CG评分显著低于其它组(P<0.05)。应用价值方面,关于个性化设计、切口设计以及预期效率,三种数字化导板的评分均显著优于CG(P<0.05),T3G评分显著优于T1G和T2G(P<0.05);关于简化手术以及预期效果,得分从高到低依次为:T3G、T2G、T1G、CG (P<0.05)。 结论 冠延长手术Ⅲ型导板的应用效果最佳,Ⅱ型导板优于Ⅰ型导板,3种数字化导板均明显优于自由手。 Objective To classify and design the digital surgical guides for crown lengthening surgery (CLS), and evaluate the application effect of the digital guides. Methods Individually designed maxillary models with altered passive eruption were prepared with a total of twenty. The models were divided into four groups (n=5) : type Ⅰ, type Ⅱ, type Ⅲ, and control. Six anterior tooth CLS guides were computer-aided designed and manufactured for experimental groups. CLS was performed by the same surgeon with the free hand and the assistance of three types of digital guides. The operation time was recorded, and the third-party experts evaluated the operation effect. At the same time, different professional dentists were invited to conduct peer reviews on the application value of the three types of surgical guides. Results In terms of surgical efficiency, the time of CG, T1G, T2G and T3G were (17.20±0.85) min, (10.56±1.14) min, (6.79±0.19) min and (5.78±0.36) min, respectively, and the differences among the four groups were statistically significant (P<0.05). In terms of surgical effect, the morphology and position of gingival margin scores of the three guide plate groups were significantly higher than CG (P<0.05), and the gingival margin curvature and symmetry scores of T3G were significantly higher than T1G and T2G (P<0.05). In addition, the alveolar crest curvature, height and symmetry scores of T3G were significantly higher than those of the other groups (P<0.05), while the scores of T1G and CG measured with the help of probe were significantly lower than those of the other groups (P<0.05). In terms of application value, the scores of individual design, incision design and expected efficiency of the three digital guides were significantly better than CG (P<0.05), and the scores of T3G were significantly better than those of T1G and T2G (P<0.05) In terms of simplified surgery and expected effect, the scores from high to low were T3G, T2G, T1G and CG (P<0.05) . Conclusion The application effect of typeⅢ CLS guide is the best, type II guide is superior to type I guide, and the three digital guides are significantly better than free hand.

    牙龈切除术牙槽骨切除术数字技术美学,牙科

    蓝激光成像放大内镜联合JNET分型对结直肠肿瘤性病变的诊断价值

    周磊马松林孙琛明孙圣斌...
    157-162页
    查看更多>>摘要:目的 探讨蓝激光成像放大内镜(BLI-ME)联合JNET分型对结直肠肿瘤性病变的诊断价值。 方法 回顾性分析2018年12月至2021年12月在华中科技大学同济医学院附属武汉中心医院接受BLI-ME检查的结直肠新生性病变患者的内镜图片,内镜医师根据JNET分型对上述病变图片进行分析并初步诊断病变的病理性质,后与内镜下处理或外科手术切除后标本的病理结果进行对比分析。 结果 入选93例患者共174处结直肠新生性病变,包括非肿瘤性病变(增生性病变及炎性病变)64处、低级别上皮内瘤变72处、高级别上皮内瘤变及黏膜下浅层浸润癌28处、黏膜下深层浸润癌10处。在BLI-ME下,JNET分型总体诊断结直肠肿瘤性病变的敏感度、特异度、阳性预测值、阴性预测值、准确率分别为93.6%、90.6%、94.5%、89.2%、92.5%;按病变大小<10 mm、10~20 mm、≥20 mm进行分类,三者分别对应的JNET分型总体诊断结直肠肿瘤性病变的准确率分别为91.0%、97.7%、96.8%,差异无统计学意义(P>0.05)。 结论 BLI-ME下应用JNET分型对结直肠肿瘤性与非肿瘤性病变具有较好的鉴别诊断能力,具有临床推广应用价值。 Objective To study the diagnostic value of Japan NBI Expert Team (JNET) classification combined with blue laser imaging magnifying endoscopy (BLI-ME) for colorectal neoplastic lesions. Methods A retrospective analysis was performed for endoscopic images taken during BLI-ME in patients with colorectal neoplastic lesions who underwent the procedure at the Central Hospital of Wuhan affiliated to Huazhong University of Science and Technology Tongji Medical College between December 2018 and December 2021. These images were reviewed and preliminarily decided on histological nature by endoscopists according to JNET classification, and then the results were compared with the findings of endoscopic or post-surgical pathology. Results A total of 174 lesions from 93 patients were studied, including 64 non-neoplastic (hyperplastic and inflammatory) lesions, 72 lesions with low grade intraepithelial neoplasia, 28 lesions with high grade intraepithelial neoplasia or superficial submucosal invasive cancers, and 10 with deep submucosal invasive cancers. The diagnostic sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of overall JNET classification with BLI-ME for colorectal neoplastic lesions was 93.6%, 90.6%, 94.5%, 89.2%, and 92.5%, respectively. Stratified by lesion size below 10 mm, 10 to 19 mm, and ≥ 20mm, the overall diagnostic accuracy of JNET classification was 91.0%, 97.7%, and 96.8%, respectively, showing no significant difference (P>0.05) . Conclusion JNET classification with BLI-ME may effectively distinguish between neoplastic and non-neoplastic colorectal lesions, and thus warrants widespread use in clinical practice.

    结直肠肿瘤蓝激光成像放大内镜JNET分型

    PRRT2基因变异19例的临床特征及遗传学分析

    孔京慧梅道启殷小静张小慢...
    163-167页
    查看更多>>摘要:目的 分析富脯氨酸跨膜蛋白2(PRRT2)基因突变19例的临床特征和遗传学特点。 方法 回顾性分析2018年1月至2021年7月本院收治的具有PRRT2基因突变的19例患儿家系的临床资料,分析基因突变特点及临床表型。 结果 19个家系先证者均存在PRRT2基因杂合突变,先证者中男13例、女6例。17例患儿的父母一方携带相同突变,2例为新生突变,癫痫发作形式表现为局灶性发作或局灶性发作继发全面性发作和全面性发作。其中15例为碱基重复突变(c.649dupC,p.Arg217Profs*8),2例碱基缺失突变(c.649delC,p.Arg217Glufs*12),1例同时携带有2个致病基因突变(PRRT2,c.649dupC,p.Arg217Profs*8和SPAST基因c.349C>T p.Arg117*),1例无义突变(c.46G>T,p.Glu16*),该变异为未曾报道的新突变。13例患儿诊断为良性家族性婴儿癫痫(BFIE),2例为发作性运动诱发性运动障碍(PKD),2例为良性婴儿癫痫(BIE),2例为婴儿惊厥伴阵发性舞蹈性手足徐动症(ICCA)。 结论 PRRT2基因突变为BFIE、PKD、BIE、ICCA的致病基因。c.649dupC是PRRT2基因的热点突变,c.46G>T为未报道的致病性突变。 Objective To investigate the clinical and genetic characteristics of proline-rich transmenbrane protein 2 (PRRT2) gene mutations in 19 children. Methods The clinical and pedigree data of 19 children with PRRT2 gene mutations admitted to our hospital between January 2018 and July 2021 were retrospectively analyzed for characteristics of the mutation and clinical phenotypes. Results A total of 19 probands from 19 families had heterozygous mutations in the PRRT2 gene. Among the probands, 13 were males and 6 were females. A total of 17 children had one parent carrying the same mutation, while 2 others had de-novo mutations. The patterns of seizure included focal seizures or focal seizures followed by generalized seizures, and generalized seizures. Among them, 15 had base duplication mutations (c.649dupC, p.Arg217Profs*8), 2 had base deletion mutations (c.649delC, p.Arg217Glufs*12), 1 had 2 disease-causing gene mutations (PRRT2, c.649dupC, p.Arg217Profs*8, and SPAST gene c.349C>T p.Arg117*), and 1 had a nonsense mutation (c.46G>T, p.Glu16*) which was novel and previously unreported. Thirteen children were diagnosed with benign familial infantile epilepsy (BFIE), 2 with paroxysmal kinesigenic dyskinesia (PKD), 2 with benign infantile epilepsy (BIE), and 2 with infantile convulsions with paroxysmal choreoathetosis (ICCA) . Conclusion The PRRT2 gene mutations are genetic culprits of BFIE, PKD, BIE and ICCA. Of these, c.649dupC is a hotspot mutation, and c.46G>T is a previously unreported pathogenic mutation.

    PRRT2基因遗传变异突变临床特征遗传学分析

    妊娠期糖尿病患者胎盘FGL2凝血酶原酶在滋养细胞的表达及其意义分析

    张丽武覃纬王丽黄春燕...
    168-173页
    查看更多>>摘要:目的 探讨妊娠期糖尿病(GDM)患者胎盘滋养细胞纤维蛋白原样蛋白2(FGL2)凝血酶原酶的表达及其意义分析。 方法 选取2020年11月至2022年1月在广西壮族自治区南溪山医院妇产科就诊的GDM患者100例作为观察组,同时选取正常孕妇100例作为对照组,比较两组FGL2凝血酶原酶mRNA、蛋白表达,同时分析观察组有和无不良妊娠结局患者临床资料、FGL2凝血酶原酶mRNA、蛋白表达差异。 结果 观察组FGL2凝血酶原酶mRNA、蛋白表达分别为(1.03±0.31)和(0.97±0.22),明显高于对照组(P<0.05)。观察组有和无不良妊娠结局患者年龄、孕期体质量指数(BMI)和不良孕产史比较差异有统计学意义(P<0.05);观察组有不良妊娠结局患者FGL2凝血酶原酶mRNA、蛋白表达、空腹血糖(FBG)和胰岛素抵抗指数(HOMA-IR)分别为(1.34±0.29)、(1.21±0.26)、(7.25±0.87)mmol/L和(1.95±0.30),明显高于无不良妊娠结局患者(P<0.05)。FGL2凝血酶原酶mRNA、蛋白表达与FBG、HOMA-IR呈正相关(P<0.05)。Logistic回归分析显示,年龄、孕期BMI、FGL2凝血酶原酶mRNA、蛋白表达是GDM患者不良妊娠结局的影响因素(P<0.05)。 结论 GDM患者胎盘滋养细胞FGL2凝血酶原酶mRNA、蛋白表达明显上调,与患者胰岛素抵抗、不良妊娠结局有关,值得进一步研究。 Objective To investigate the expression and significance of fibrinogen like protein 2 (FGL2) prothrombin in placental trophoblasts of patients with gestational diabetes mellitus (GDM) . Methods A total of 100 GDM patients who stayed at Department of Obstetrics and Gynecology of Nanxishan Hospital of Guangxi Zhuang Autonomous Region between November 2020 and January 2022 were included as the study group, and a contemporary cohort of 100 normal pregnant women as the control group. The two groups were compared for the mRNA and protein expression of FGL2 prothrombin. The differences in clinical data, mRNA and protein expression of FGL2 prothrombin were also analyzed between patients with and without adverse pregnancy outcomes in the study group. Results The expression levels of FGL2 prothrombin mRNA and protein in the study group were (1.03±0.31) and (0.97±0.22) respectively, which were significantly higher than those in the control group (P<0.05). There were statistically significant differences in the age, body mass index and history of adverse pregnancy between patients with and without adverse pregnancy outcomes in the study group (P<0.05). The expression of FGL2 prothrombin mRNA and protein, fasting blood glucose and insulin resistance index (HOMA-IR) in patients with adverse pregnancy outcomes in the study group were (1.34± 0.29), (1.21±0.26), (7.25±0.87) mmol / L and (1.95±0.30), which were significantly higher than those in patients without adverse pregnancy outcomes (P<0.05). The expression of FGL2 prothrombin mRNA and protein was positively correlated with fasting blood glucose and HOMA-IR (P<0.05). Logistic regression analysis showed that age, body mass index during pregnancy, and mRNA and protein expression of FGL2 prothrombin were influencing factors of adverse pregnancy outcomes in GDM patients (P<0.05) . Conclusion The mRNA and protein expression of FGL2 prothrombin in placental trophoblasts of patients with GDM is significantly up-regulated and associated with insulin resistance and adverse pregnancy outcomes, rendering further study warranted.

    妊娠期糖尿病胎盘滋养细胞纤维蛋白原样蛋白2凝血酶原酶临床意义

    脑外伤患者开颅术后镇痛麻醉方案的构建及对患者脑保护作用和神经损伤标志物的影响

    苏光磊王桂飞杨运萍王馨...
    174-179页
    查看更多>>摘要:目的 探讨脑外伤患者开颅术后镇痛麻醉方案的构建及对患者脑保护作用和神经损伤标志物的影响。 方法 选取2021年2月至2022年1月在山西省人民医院择期行开颅手术患者99例,按照随机数字表法将患者分为A、B、C 3组,每组33例。A组不给予右美托咪定,B、C组在麻醉诱导前,均静脉泵注右美托咪定1 μg/kg的负荷剂量,然后分别以0.2、0.4 μg·kg-1·h-1速率进行泵注,至术后24 h停止。观察3组患者围手术期心率(HR)、血压、呼吸频率(RR)、血氧饱和度(SpO2)等血流动力学指标。采用酶联免疫吸附法(ELISA)检测血清神经损伤标志物水平[神经元特异性烯醇化酶(NSE)、S-100β蛋白、诱导型一氧化氮合酶(iNOS)]。采用颅内压监测仪动态测定颅内压,计算脑氧摄取率(CERO2)。记录3组不良反应发生情况。 结果 T0时,3组血流动力学指标、血清神经损伤标志物水平、颅内压、CERO2水平比较,差异均无统计学意义(均P>0.05)。随着麻醉时间推移,3组在不同时间点比较,平均动脉压、HR、NSE、S-100β、iNOS、颅内压、CERO2水平差异有统计学意义(均P<0.05),其中C组变化幅度比A、B组更大;而RR、SpO2差异均无统计学意义(均P>0.05)。3组不良反应发生率比较,差异无统计学意义(P>0.05)。 结论 开颅术后患者采用右美托咪定复合氢吗啡酮具有较好的镇痛效果,具有脑保护作用,可改善神经损伤标志物水平,术后不良反应发生较少,且对呼吸没有显著影响,尤其是0.4 μg的右美托咪定复合氢吗啡酮效果最佳。 Objective To formulate an analgesic anesthesia program after craniotomy in patients with brain trauma, and to investigate its role in brain protection and effect on nerve injury markers. Methods Ninety-nine patients who underwent elective craniotomy in Shanxi Provincial People's Hospital between February 2021 and January 2022 were included and divided into groups A, B and C according to random number table (n=33 each). While group A was not on any dosing of dexmedetomidine, groups B and C were given intravenous dexmedetomidine via an infusion pump at a loading dose of 1μg/kg before anesthesia induction, and then the pump infusion was continued at a rate of 0.2 and 0.4 μg·kg-1·h-1, respectively, until 24 hours after surgery. Perioperative heart rate (HR), blood pressure, respiratory rate (RR), SpO2 and other hemodynamic parameters were observed in the three groups. Serum nerve injury markers [neuron-specific enolase (NSE), S-100β protein, inducible nitric oxide synthase (iNOS) ] were detected by enzyme linked immunosorbent assay (ELISA). Intracranial pressure monitor was used to measure intracranial pressure dynamically, with calculation of the cerebral oxygen extraction ratio (CERO2). The occurrence of adverse reactions in the three groups was recorded. Results At 20 min prior to anesthesia induction (T0), there were no significant differences in hemodynamics, nerve injury markers, intracranial pressure and CERO2 among the three groups (P>0.05). Over the duration of anesthesia, the three groups varied statistically in the mean arterial pressure, HR, NSE, S-100β, iNOS, intracranial pressure, and CERO2 at any other time point (allP<0.05), with greater changes in these indicators found for group C compared with groups A and B, but no significant differences in RR and SpO2 were noted among groups (both P>0.05). The incidence of adverse reactions was comparable among the three groups (P>0.05) . Conclusion After craniotomy, dexmedetomidine combined with hydromorphone may lead to good analgesic outcome and brain protection, improvement in the level of nerve injury markers, less postoperative adverse reactions, and no significant impact on respiration. These benefits are more prominent with 0.4 μg dexmedetomidine combined with hydromorphone.

    脑外伤开颅术后镇痛麻醉方案脑保护作用神经损伤标志物

    弥散加权成像结合常规磁共振成像在强直性脊柱炎不同时期诊断差异的研究

    安波于国政孙好凯王馨...
    180-184页
    查看更多>>摘要:目的 研究弥散加权成像(DWI)结合常规磁共振成像(MRI)在强直性脊柱炎的诊断及区分炎症活动期、稳定期差异。 方法 本研究采取2018年6月到2021年6月在烟台市烟台山医院进行诊断治疗的强直性脊柱炎患者80例作为研究对象,炎症活动期患者39例,稳定期患者41例。分别对患者采取DWI结合常规MRI检查,分析两组患者DWI以及动态对比增强磁共振成像(DCE-MRI)检查各个参数之间的差异,及表观扩散系数(ADC)与达峰时间(TTP)、峰值信号强度(Sipeak)、最大上升斜率(MSI)、信号增强比率(SER)的相关性。 结果 活动组患者的ADC、TTP 、Sipeak、MSI、SER均显著高于稳定组患者,患者的ADC数值与TTP、Sipeak、MSI、SER呈正相关,联合检测对强直性脊柱炎患者的诊断特异度显著高于单独检测。 结论 DWI结合常规MRI在强直性脊柱炎诊断具有积极的意义,通过对患者的影像学诊断转化为量化指标,对于区分炎症活动期、稳定期具有积极的临床意义。 Objective To investigate the use of diffusion weighted imaging (DWI) combined with conventional magnetic resonance imaging (MRI) in diagnosing ankylosing spondylitis and the difference between active and stable stages of the condition. Methods Included in this study were 80 patients with ankylosing spondylitis diagnosed and treated in Yantaishan Hospital of Yantai City between June 2018 and June 2021, comprising 39 patients in the active stage and 41 patients in the stable stage of the disease. All patients underwent DWI and conventional MRI. The differences between the two groups in parameters of DWI and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) were evaluated. The correlations of apparent diffusion coefficient (ADC) with time to peak (TTP), peak signal intensity (Sipeak), maximum slope of increase (MSI), and signal enhancement ratio (SER) were analyzed. Results The ADC, TTP, Sipeak, MSI, and SER were significantly higher in patients with active ankylosing spondylitis than those with stable disease. Among these patients, the value of ADC of patients was positively correlated with TTP, Sipeak, MSI, and SER. Combined detection with DWI and conventional MRI yielded remarkably higher diagnostic specificity for ankylosing spondylitis compared with either alone. Conclusion DWI combined with conventional MRI can be significantly relevant in diagnosing ankylosing spondylitis. The quantitative metics derived from imaging study could be conducive to distinguishing between active and stable stages in patients with ankylosing spondylitis.

    强直性脊柱炎炎症活动期稳定期动态对比增强磁共振成像弥散加权成像