Non-invasive prenatal testing for single gene disorders: exploring the ethics

Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy. Before widespread implementation, it is important to consider the possible ethical implications. Four hypothetical scenarios are presented that highlight how ethical ideals of respect for autonomy, privacy and fairness may come into play when offering non-invasive prenatal testing for single gene disorders. The first scenario illustrates the moral case for using these tests for ‘information only'', identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.     

三种因素对根管桩道预备后根尖封闭性影响的研究

目的:评价根管形态、根管充填方法、根管封闭剂三种因素对桩道预备后根管的根尖封闭性的影响。方法:本实验共选取45颗规则的直根管牙根及40颗椭圆形根管牙根,分为9组。其中实验组A组为规则的直根管,A1:iRoot SP+热牙胶(n=10),A2:i Root SP+单尖法(n=10),A3:Gutta Flow2+热牙胶(n=10),A4:Gutta Flow2+单尖法(n=10);实验组B组为椭圆形根管,B1:iRoot SP+热牙胶(n=10),B2:i Root SP+单尖法(n=10),B3:Gutta Flow2+热牙胶(n=10),B4:Gutta Flow2+单尖法(n=10);C组为空白对照组,规则的直根管,不作充填(n=5)。实验组充填结束后均行纤维桩桩道预备。使用染料渗透技术评价根尖微渗漏情况,通过扫描电镜观察各组牙本质与根管封闭剂界面的微观形态。结果:A1、A2、A3、A4、B1、B2、B3、B4组分别为(2.97±0.89)、(2.93±1.36)、(0.98±0.68)、(0.99±0.73)、(3.20±1.08)、(3.26±1.17)、(1.10±0.85)、(1.04±0.97)mm,C组渗透根管全长。对结果进行三因素析因设计资料的方差分析显示,根管形态及根管充填方法对根尖封闭性的影响无统计学意义(P>0.05),根管封闭剂对根尖封闭性有显著影响(P<0.05)。扫描电镜观察,使用Gutta Flow2组封闭剂与根管壁的结合较为紧密。结论:对于桩道预备后的根管,根管封闭剂是影响根尖封闭性的主要因素,Gutta Flow2略优于iRoot SP。根管形态、根管充填方法及根管封闭剂三者之间不存在交互作用。     

急性淋巴细胞白血病患儿甲氨蝶呤转运蛋白及代谢酶基因多态性的研究进展

大剂量甲氨蝶呤治疗儿童急性淋巴细胞白血病的疗效及不良反应具有明显的个体差异。大剂量甲氨蝶呤治疗反应的多样性与甲氨蝶呤相关转运蛋白如溶脂载体转运蛋白、ABC转运蛋白以及甲氨蝶呤代谢相关酶如亚甲基四氢叶酸还原酶、二氢叶酸还原酶、胸腺嘧啶核苷酸合成酶、氨基咪唑胺甲酰转移酶等密切相关。本文就甲氨蝶呤代谢途径,甲氨蝶呤转运蛋白及代谢酶基因多态性对其疗效、不良反应的影响作一综述。     

肿瘤突变负荷位点检测准确性评价

目的使用肿瘤突变负荷国家参考品中高置信SNP/Indel位点标准集的参考品,评价肿瘤突变负荷检测试剂盒的位点检测准确性。方法采用TMB检测试剂盒(可逆末端终止测序法)检测肿瘤突变负荷检测国家参考品中高置信SNP/Indel位点标准集的参考品。首先将DNA片段化处理,进行末端修复、接头连接和文库扩增等步骤后构建文库;然后将文库杂交捕获;最后使用NextSeq 550 Dx基因测序仪进行测序。结果TMB-14-2%、TMB-14-5%和TMB-14-10%参考品的突变检测准确性分别为89.00%、95.20%、95.80%。结论高置信SNP/Indel位点标准集的参考品,能够用于评价肿瘤突变负荷检测试剂盒的位点检测准确性。     

Dental implant placement in alveolar cleft patients: a retrospective comparative study on clinical and aesthetic outcomes

The aim of this retrospective study was to assess the clinical and aesthetic outcomes, and patient satisfaction, following dental implant therapy in cleft patients. Implant survival, changes in marginal bone level, pocket probing depths, plaque and bleeding indices, aesthetics, and patient satisfaction were assessed in 17 alveolar cleft patients and 17 matched controls. At follow-up (mean 72.4 ± 46.4 months), one implant had been lost in the cleft group. Mean marginal bone loss at follow-up was −0.4 ± 0.4 mm in cleft patients and −0.2 ± 0.4 mm in controls. Aesthetics of the peri-implant soft tissues (pink aesthetic score) were less favourable (P = 0.025) in cleft patients (5.0 ± 1.9) than in controls (6.5 ± 1.7), while peri-implant parameters were comparable in the two groups. Overall patient satisfaction was 8.6 ± 0.9 in cleft patients and 8.9 ± 1.1 in controls (P = 0.331). In cleft patients, no difference in aesthetics was observed between patients who received additional bone augmentation at 3 months prior to implant placement and those who did not (P = 0.092). Dental implant therapy in cleft patients is associated with high implant survival, minor marginal bone loss, healthy peri-implant soft tissues, and high patient satisfaction. Only the aesthetics of the soft tissues was worse in cleft patients compared to augmented non-cleft patients.