Coinheritance of generalized pustular psoriasis and familial Behçet‐like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state

Generalized pustular psoriasis (GPP) is now known to be caused by biallelic variants in IL36RN and monoallelic variants in CARD14 and AP1S3. The presence of a modifier locus or oligogenic inheritance have been hypothesized. We report on a patient with a unique coinheritance of pathogenic variants in IL36RN (c.115+6T>C) and TNFAIP3 (c.547C>T, p.R183 * ) causing the genetic entities GPP and familial Behçet‐like autoinflammatory syndrome (AISBL). The heterozygous variant in IL36RN identified by Sanger sequencing was inherited from his unaffected father, while the heterozygous variant in TNFAIP3 was detected by whole‐exome sequencing and was also identified in the patient's AISBL‐affected maternal relatives. Further functional studies are required to research whether the variant of TNFAIP3 plays a part in the development of GPP or simply causes the Behçet's disease phenotype. However, our data suggest that whole‐exome sequencing for the heterozygous carrier of the IL36RN gene in GPP be used to find the potential second genetic locus.     

Dexmedetomidine enhances ropivacaine-induced sciatic nerve injury in diabetic rats

Background

Previous studies suggest that dexmedetomidine has a protective effect against local anaesthetic-induced nerve injury in regional nerve blocks. Whether this potentially protective effect exists in the context of diabetes mellitus is unknown.

A new lindenane-type sesquiterpenoid lactone from Chloranthus japonicus

Chromatographic fractionation of the EtOH extracts of the Traditional Chinese Medicine (TCM) Chloranthus japonicus, has led to the isolation of a new lindenane-type sesquiterpenoid lactone derivative (1). Rosmarylchloranthalactone E (1), which consists of lindenane sesquiterpenoid lactone and rosmarinic acid moieties linked via an ester bridge, was structurally elucidated by 1D and 2D NMR and HRMS data. Compound 1 was a potent phosphodiesterase-4 (PDE4) inhibitor with an IC₅₀ value of 0.96 ± 0.04 μM.     

Ilizarov技术与Masquelet技术治疗股骨感染性骨不连的疗效

目的 探讨Ilizarov技术与Masquelet技术治疗股骨感染性骨不连的疗效。 方法 回顾性分析2014年1月～2018年1月我院收治的63例股骨感染性骨不连患者的临床资料，根据不同手术方式分为Ilizarov组（n=34）与Masquelet组（n=29）。比较两组手术次数、治疗费用、生命质量评分、并发症、愈合时间及治疗效果。 结果〓两组治疗手术总次数无明显差异（P＞0.05），但Ilizarov组治疗缺损手术次数更多（P＜0.05），而Masquelet组患者治疗感染手术次数更多（P＜0.05）；Masquelet组治疗费用明显低于Ilizarov组（P＜0.05）；治疗后，两组患者生命质量评分均提高，且Masquelet组提高幅度大于Ilizarov组（均P＜0.05）；两组并发症发生率无明显差异（P＞0.05）；Masquelet组治愈时间明显短于Ilizarov组（P＜0.05）；治疗后，两组患者疗效总优良率无明显差异（P＞0.05），但Ilizarov组治疗效果评级为优的患者明显多于Masquelet组（P＜0.05）。 结论 Ilizarov技术可修复、重建较长骨段缺损，感染、复发率低，愈合时间短，但操作难度大，治疗费用高，对患者日常活动影响大；Masquelet技术适用于骨缺损长度较短且自体供骨量充足患者，操作简单，安全性好，但对软组织要求较高，因此应根据患者实际情况合理选择临床术式，帮助患者更好康复。     

ω-3多不饱和脂肪酸对急性肺损伤炎症反应及免疫功能影响的机制研究进展

烧(创)伤、吸入性损伤、严重感染以及休克等疾病过程中,机体内多种炎性介质的释放,引发炎性细胞向肺组织迁移,激活呈级联放大的炎症反应,常常可造成以肺毛细血管内皮细胞和肺泡上皮细胞损伤为主的急性肺损伤(ALI),严重者短时间内可迅速发展为急性呼吸窘迫综合征(ARDS),病死率极高。ω-3多不饱和脂肪酸(ω-3PUFA)作为药理性免疫营养素的重要组成部分,目前已经超越了以往单纯提供能量、恢复正氮平衡的范畴,发挥着调控机体炎症反应、免疫功能的全面作用,并逐渐演变为现代危重性肺损伤治疗的重要组成部分。因此,本文就ω-3PUFA对ALI炎症反应及免疫功能影响的机制作一综述,旨在为临床治疗ALI提供理论依据。     

原发性卵巢非霍奇金淋巴瘤1例及相关文献复习

目的:探讨原发性卵巢弥漫性大B细胞淋巴瘤的病因、临床表现、诊断、治疗及预后。方法:报道1例原发性卵巢弥漫性大B细胞淋巴瘤的临床病理资料及术后免疫组化结果，并阅读及复习国内外相关文献。结果:该例患者为（右）卵巢弥漫性大B细胞淋巴瘤，积极治疗后现考虑肿瘤复发。结论:原发性卵巢弥漫性大B细胞淋巴瘤罕见，确诊依赖于术后病理及免疫组化，预后不佳，常采用以手术为主，辅以化疗和放疗的综合治疗。     

血清TRAb IgG亚型在甲状腺相关性眼病患者中的特征及临床意义

目的探讨血清TRAb IgG各亚型在不同活动分期甲状腺相关性眼病(thyroid-associated ophthalmopathy,TAO)患者中的分布特点,及其在评估TAO活动度中的价值。方法选取2018年8月至2019年2月郑州大学第一附属医院收治的TAO患者43例,依据临床活动度评分(clinical activity score,CAS)进一步分为活动期组(AP组,CAS≥3分,22例)和静止期组(IP组,CAS<3分,21例);Graves病患者(GD组)30例,桥本甲状腺炎患者(HT组)19例,并以同期健康体检者(NC组)50名作为正常对照。收集各组受试者临床基本资料,化学发光免疫法检测血清FT3、FT4、TSH、甲状腺过氧化物酶抗体(TPOAb)、甲状腺球蛋白抗体(TgAb)、促甲状腺激素受体抗体(TRAb)水平,酶联免疫吸附法检测血清TRAb IgG和IgG各亚型的百分结合率[binding rate in percentage,(B)],比较各亚型的阳性率和阳性亚型的相对含量。结果(1)与HT组相比,TAO组、GD组IgG1、IgG2阳性率降低,差异有统计学意义(P<0.05)。各疾病组间TRAb IgG亚型相对含量无明显差异(P>0.05)。(2)与IP组相比,AP组IgG1(B)、IgG1阳性率显著升高,IgG4(B)、IgG4相对含量显著降低(P<0.05)。(3)IgG1(B)与TAO活动度呈正相关(B=6.190,P=0.007),IgG4(B)越高越倾向于静止期,但差异无统计学意义(B=-16.390,P=0.052)。(4)活动率评估TAO处于活动期的受试者工作特征(ROC)曲线下面积为0.859(95%CI 0.746~0.973,P<0.05),当活动率为4.29时,约登指数最大,其判断敏感度为81.8%,特异度为81.0%。结论在TAO患者中血清TRAb IgG1水平升高提示疾病趋向活动期,IgG4水平升高提示疾病趋向静止期。活动率可为评估TAO是否处于活动期提供参考依据。     

KIF20A对胶质瘤细胞增殖、迁移和侵袭、凋亡及细胞周期分布的影响

目的:研究KIF20A对胶质瘤U87细胞系增殖、侵袭、迁移、凋亡及细胞周期分布的影响。方法:利用 RNA干扰技术下调胶质瘤细胞系 U87中 KIF20A 的表达。RT-qPCR 和 Western blot 分别检测 KIF20A 在mRNA 和蛋白水平上的表达。CCK-8 实验检测 U87细胞增殖能力的变化，Transwell 实验检测U87细胞迁移及侵袭能力的变化，流式细胞术检测 U87细胞凋亡及细胞周期的变化。结果:RT-qPCR和Western blot 结果显示 siRNA-KIF20A显著下调 KIF20A 的表达，CCK-8和Transwell 实验显示下调 KIF20A 的表达显著抑制了U87细胞的增殖、迁移及侵袭能力，流式细胞术结果显示下调 KIF20A 的表达显著促进了U87细胞的凋亡，诱导细胞周期阻滞在G0/G1期。结论:下调KIF20A的表达抑制胶质母细胞瘤细胞的增殖、迁移及侵袭，促进胶质母细胞瘤细胞的凋亡并诱导细胞周期G0/G1期阻滞。     

Kellerin alleviates cognitive impairment in mice after ischemic stroke by multiple mechanisms

Ischemic stroke is a global disease with high disability and mortality rates. Cognitive impairment is one of the major clinical features of ischemic stroke, and microglia‐mediated inflammation has been shown to be an important contributor to the pathogenesis of ischemic stroke. Kellerin, extracted from Ferula sinkiangensis, was previously shown to inhibit microglial activation and exert a strong anti‐neuroinflammatory effect. However, there is no report of the potential therapeutic effect of kellerin on ischemic stroke by targeting microglial cells. In this study, we wanted to examine the effects of kellerin on ischemic stroke in the bilateral common carotid artery occlusion (BCCAO) model and the lipopolysaccharide (LPS)‐activated microglia model. We found that kellerin alleviated cognitive impairment, decreased neuronal loss, suppressed microglial activation, and transformed microglia from the pro‐inflammatory M1 phenotype to the anti‐inflammatory M2 phenotype in BCCAO mice. Moreover, in in vitro studies, we found that kellerin regulated microglial polarization and inhibited the NLRP3 and MAPK signaling pathways after LPS treatment. These findings provide a new understanding of the function of kellerin in ischemic stroke, and suggest that kellerin could be a potential therapeutic agent for the treatment of ischemic stroke.