Usher syndrome (USH) is the most common cause of deaf-blindness diseases characterized by sensorineural hearing loss and retinitis pigmentosa. Patients are clinically and genetically heterogeneous, however, there are no convincing methods for prevention and treatment. USH2A is the most common disease-causing gene among 14 genes related to Usher syndrome. Great progress has been achieved in the pathogenic mechanism, animal models studies, diagnosis, and treatments based on gene therapy, cells transplantation and antisense oligonucleotide-based splice correction. Mutations in USH2A result in defects in USH complex proteins which involved in the transport function of the peripheral cilia region. There is respective limitations in established mouse and zebrafish animal models. Two promising treatments of this disease are introduced. One is clinical transplantation of visual organs which induced from corrected patient-derived induced pluripotent stem cells by the CRISPR/Cas9 system and another one is the RNA splicing therapy based on antisense oligonucleotides.
目的 探讨实施肠内营养的途径。方法 采用回顾性研究的方法，分析兰州大学第一医院2007年1月1日至2007年12月31日实施胆肠吻合术的15例患者的临床资料，包括复发性胆管结石4例，胆管癌3例，胆总管囊肿3例，壶腹癌（不能根治）5例； 平均年龄75.5岁； 在行胆肠Roux-en-Y吻合时，利用空肠盲襻实施空肠造瘘，术后第12 h开始肠内营养。统计肛门排气时间、住院时间及并发症。结果 15例患者平均肛门排气时间为54.6 h，平均住院时间为12 d，平均营养管拔除时间为20 d； 发生吻合口漏1例，肺部感染1例，切口感染1例，无一例因造瘘而发生机械性肠梗阻。结论 胆肠吻合利用空肠盲襻实施空肠造瘘肠内营养是肠内营养一种方便、可行的途径，它可以减少并发症的发生，缩短患者的住院时间，减轻患者的经济负担。与传统的方法比较，不会引起咽部不适及肺部感染，患者依从性好； 不会导致机械性肠梗阻，安全可行。
ObjectiveTo explore the relationship between pregnancy-associated plasma protein-A (PAPP-A) and different types of coronary heart disease (CHD) in Chinese. MethodsThe papers about the relationship between the PAPP-A level and coronary heart disease in Chinese published before December 2013 were searched from electronic databases, including PubMed, EMbase, China National Knowledge Infrastructure, Wanfang and VIP. Statistical analysis was carried out using Stata 12.0 software. ResultsA total of 44 papers were included in this meta-analysis. The number of cases was 3 628, including 1 137 stable angina pectoris (SAP) patients, 1 368 unstable angina pectoris (UAP) patients and 1 123 acute myocardial infarction (AMI) patients. The number of control was 1 177. This meta-analysis indicated that the levels of PAPP-A were higher in different types of CHD patients than those in the control group[SAP group:SMD=0.38, 95% CI (0.25, 0.50), P < 0.001; UAP group:SMD=2.84, 95% CI (2.36, 3.32), P < 0.001; AMI group:SMD=3.31, 95% CI (2.78, 3.85), P < 0.001, respectively]. The levels of PAPP-A were higher in AMI group than UAP group[SMD=0.56, 95% CI (0.33, 0.80), P < 0.001]. At the same time, the levels of PAPP-A in patients with disease of one, two and three coronary arteries were higher than those in the control group[SMD=2.40, 95% CI (1.49, 3.31), P < 0.001; SMD=2.27, 95% CI (1.44, 3.09), P < 0.001; SMD=2.30, 95% CI (1.35, 3.24), P < 0.001, respectively]. The levels of PAPP-A were higher in patients with disease of two arteries than in those of one artery[SMD=0.29, 95% CI (0.01, 0.58), P=0.042], but there was no significant difference between patients with disease of three arteries and those of 1 or 2 arteries(P > 0.05). ConclusionsThe levels of PAPP-A are significantly higher in CHD patients and are positively related with the severity of CHD. The levels of PAPP-A can be regarded as the indicator for judging the severity of CHD