Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated,incomplete phenotype of arthrogryposis,renal dysfunction,and cholestasis syndrome

The typical phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome involves three cardinal symptoms as the name describes, harboring biallelic mutations on VPS33B or VIPAS39. Except for ARC syndrome, low gamma‐glutamyltransferase (GGT) cholestasis often implies hereditary hepatopathy of different severity; however, some remain undiagnosed. Several monogenic defects typically with multiorgan manifestations may only present liver dysfunction at times, such as DGUOK defect and AGL defect. Previously, four VPS33B mutated cases were reported without arthrogryposis, or with less severe symptoms and longer lifespan, indicating the possibility of incomplete ARC phenotype of isolated hepatopathy. So we retrospectively reviewed all patients with confirmed VPS33B/VIPARS39 defect in our center and identified three presenting isolated low‐GGT cholestasis with intractable pruritus. Distinguished from others with typical ARC phenotype, these patients did not suffer the other two typical characteristics, survived much longer, and shared a novel missense VPS33B variation c.1726T>C, p.Cys576Arg, causing declined protein expression and abolished interaction with VIPAS39 in‐vitro. Serum bile acid profiles of our VPS33B/VIPAS39 mutated patients revealed similar changes to primary defect of bile salt export pump, among which those with isolated cholestasis phenotype had a higher level of total secondary bile acids than that with typical ARC phenotype, indicating the partial residual function of VPS33B.     

HPLC法测定黄金搭档组合维生素片中VitA、VitE的含量

目的建立黄金搭档组合维生素片VitA和VitE含量测定方法.方法用高效液相色谱法进行分析.色谱柱为Symmetry-C18柱(5 μm,3.9×150 mm),流动相为甲醇-水(98:2),检测波长VitA326 nm、VitE 285 nm.结果峰面积与含量有良好的线性(rVitA=0.997 8,rVitE=0.999 9);重现性好(RSDVitA=0.33%,RSDvitE=0.29%);回收率高(XVitA96.9%,RSD=0.74%;XVitE98.0%,RSD=1.11%).结论方法稳定,简便易行,快速准确,可作为此片剂质量检测方法.     

注射用益气复脉(冻干)与氯化丁基胶塞相容性研究中抗氧剂和硫化剂的含量测定

目的 建立注射用益气复脉（冻干）药品中氯化丁基橡胶塞用抗氧剂2,6-二叔丁基-4-甲基苯酚（BHT）和硫化剂对-特辛基苯酚的含量测定方法,并对其稳定性进行考察。方法 采用ACQUITY UPLC BEH C₁₈柱,以乙腈-0.2%甲酸水为流动相梯度洗脱,体积流量0.3 mL/min,柱温35℃,检测波长280 nm。结果 BHT和对特-辛基苯酚质量浓度在0.4～20μg/mL线性关系良好（r > 0.999）;准确度试验平均回收率分别为99.3%、101.9%,精密度及耐用性结果均符合要求;注射用益气复脉（冻干）稳定性考察样品中BHT和对-特辛基苯酚含量均小于限度值。结论 所建立的方法准确可靠,可用于注射用益气复脉（冻干）中BHT和对-特辛基苯酚的含量测定。     

Investigating social inequalities in older adults’ dentition and the role of dental service use in 14 European countries

Background

Oral disease, despite being largely preventable, remains the most common chronic disease worldwide and has a significant negative impact on quality of life, particularly among older adults.

Objective

This study is the first to comprehensively and at a large scale (14 European countries) measure the social inequalities in the number of natural teeth (an informative oral health marker) in the over 50-year-old population and to investigate the extent to which such inequalities are attributable to dental service use.

Methods

Using Wave 5 of the Survey of Health, Ageing and Retirement in Europe, which included internationally harmonized information on over 50,000 individuals across 14 European countries, we calculated Gini and Concentration indices (CI) as well as the decompositions of CIs by socioeconomic factors.

Results

Sweden consistently performed the best with the lowest inequalities as measured by Gini (0.1078), CI by income (0.0392), CI by education (0.0407), and CI by wealth (0.0296). No country performed the worst in all inequality measures. However, unexpectedly, some wealthier countries (e.g., the Netherlands and Denmark) had higher degrees of inequalities than less-wealthy countries (e.g., Estonia and Slovenia). Decomposition analysis showed that income, education, and wealth contributed substantially to the inequalities, and dental service use was an important contributor even after controlling for income and wealth.

Conclusions

The study highlighted the importance of comprehensively investigating oral health inequalities. The results are informative to policymakers to derive country-specific health policy recommendations to reduce oral health inequalities in the older population and also have implications for oral health improvement of the future generations.

     

中医五音疗法配合缩唇腹式呼吸肌功能锻炼在气管切开患者护理中的应用

目的:观察中医五音疗法配合缩唇腹式呼吸肌功能锻炼对治疗气管切开患者的临床疗效。方法:选取2012年1月—2013年12月在本院接受治疗的气管切开患者共50例,随机分为观察组与对照组,每组各25例。对照组采用常规缩唇腹式呼吸肌进行呼吸肌功能锻炼的护理方式,观察组采用中医五音疗法配合缩唇腹式呼吸肌功能锻炼对气管切开患者进行护理干预,比较两组患者撤去呼吸机情况,满意度以及生活质量情况。结果:对照组撤去呼吸机的成功率为60%,观察组的成功率为100%,两组成功率比较,差异具有统计学意义(P0.05)。两组患者治疗后满意度及生活质量评分均高于治疗前,且观察组高于对照组,差异均有统计学意义(P0.05)。结论:中医五音疗法配合缩唇腹式呼吸肌功能锻炼护理气管切开患者可提高患者的生活质量,增加患者的满意度。     

五味消毒饮治疗CO_2激光术后复发性尖锐湿疣临床研究

目的:观察五味消毒饮治疗CO_2激光术后复发性尖锐湿疣的临床疗效。方法:将126患者随机分为观察组和对照1组、对照2组,每组各42例。对照1组在CO_2激光术除去尖锐湿疣后仅给予肌肉注射卡介菌多糖核酸注射液,对照2组在CO_2激光术除去尖锐湿疣后待伤口愈合后给予咪喹莫特外用,观察组在上述两组综合治疗的基础上口服中药五味消毒饮。观察三组患者的临床疗效及复发情况。结果:观察组有效率为85.71%,对照1组有效率为64.25%,对照2组有效率为59.52%,观察组与对照1组和对照2组比较,差异具有统计学意义(P0.05),观察组复发率显著低于对照1组、对照2组,差异具有统计学意义(P0.05)。结论:五味消毒饮治疗CO_2激光术后复发性尖锐湿疣疗效显著,复发率低,安全性高。     

温针灸对类风湿性关节炎大鼠血清免疫球蛋白及滑膜组织中VCAM-1的影响

目的:观察温针灸对类风湿性关节炎(Rheumatoid arthritis,RA)大鼠血清免疫球蛋白及滑膜组织中血管细胞黏附分子-1(vascular cell adhesion molecule-1,VCAM-1)的影响,探讨温针灸改善类风湿性关节炎的作用机制。方法:选取清洁级3月龄SD健康大鼠60只,雌雄各半,体质量(208±4.5)g,先适应性喂养1周,然后按照数字表法随机抽取15只为正常组进行常规喂养,其余大鼠进行模型复制,并随机分为模型组、针刺组和温针灸组,每组15只。采用皮内注射牛Ⅱ型胶原接种诱发制备大鼠类风湿性关节炎模型。温针灸组于造模后第1天取"足三里""肾俞"和"悬钟"温针灸治疗,采用手针,刺激量以大鼠耐受为度,日1次,共治疗21 d。针刺组针刺方法同温针灸组,不用艾灸。模型组不给予任何处理。疗程结束后滑膜取材,采用MD-100自动生化分析仪检测血清中IgG、IgM和IgA的含量,以免疫组化法检测VCAM-1在滑膜组织中的表达。结果:与正常组比较,模型组大鼠血清IgG、IgM、IgA含量和滑膜组织中VCAM-1表达水平显著升高(P0.05);与模型组比较,温针灸组和针刺组大鼠血清IgG、IgM、IgA含量和滑膜组织中VCAM-1表达水平显著降低(P0.05);与针刺组比较,温针灸组大鼠血清IgG、IgM、IgA含量和滑膜组织中VCAM-1表达水平降低幅度更明显(P0.05)。结论:温针灸可升高RA大鼠血清IgG、IgM和IgA的含量,抑制VCAM-1在滑膜组织中的表达,可能是温针灸通过调节RA大鼠慢性炎症以改善关节损伤的调节机制之一。     

赤石脂和禹余粮作为灶心土替代品的分析

目的:通过比较灶心土、赤石脂和禹余粮的热解特性及红外光谱相似度来探讨赤石脂、禹余粮替代灶心土的可行性。方法:热解特性研究采用热重差热综合热分析仪,取试样量(30±5)mg置于坩锅中,以10℃·min~(-1)的升温速率、流量60 m L·min~(-1)的恒定流速通入模拟空气[N_2-O_2(4∶1)],从室温升至900℃。红外光谱试验采用溴化钾压片法,光谱分辨率4 cm~(-1),测量范围4 000~500 cm-1,扫描信号累加32次,所得数据经Omnic软件进行自动基线校正、平滑及纵坐标归一化。数据处理及图表绘制采用Origin 8.0软件和Omnic软件完成。结果:比较热解特性发现灶心土、赤石脂、禹余粮的热解特性均在400~600℃处出现一段失重台阶;但整体而言,赤石脂与禹余粮热解特性没有体现出灶心土热解特性的复杂性;通过红外光谱相似度数值得出,以灶心土作为对照,赤石脂与灶心土相似度数值较偏低,禹余粮与与灶心土相似度数值处于中等水平。结论:就热解特性及红外光谱相似度而言,禹余粮与灶心土相似性较好,可能较赤石脂更适用作灶心土的替代品,为相关中药炮制辅料的研究提供参考。