1972—2016年江苏省启东市胃癌死亡流行特征分析

目的分析江苏省启东市1972—2016年胃癌死亡流行特征。方法收集启东市1972—2016年恶性肿瘤死亡登记数据库及历年人口资料, 计算死亡率、中国人口标化率(中标率)、世界人口标化率(世标率)、35～64岁截缩率、0～74岁累积死亡率、累积死亡风险、变化百分比、死亡率年均变化百分比。结果 1972—2016年启东市胃癌死亡例数为15 863例, 占全部恶性肿瘤死亡例数的16.04%, 胃癌死亡率为31.37/10万, 中标率为12.97/10万, 世标率为21.39/10万, 35～64岁截缩死亡率为28.86/10万, 0～74岁累积死亡率为2.54%, 胃癌死亡累积风险为2.51%。男性死亡10 114例, 男性死亡率、中标率、世标率分别为40.53/10万、17.98/10万和30.13/10万;女性死亡5 749例, 女性死亡率、中标率、世标率分别为22.45/10万、8.52/10万和13.92/10万。25岁以下各年龄组的死亡率<1/10万, 死亡率随年龄的增长而升高, 50～岁组达到并超过人群的平均死亡率水平, 80～岁组达到死亡高峰。1972—2016年间胃癌死...     

Perivascular fat attenuation for predicting adverse cardiac events in stable patients undergoing invasive coronary angiography

BackgroundInflammation surrounding the coronary arteries can be non-invasively assessed using pericoronary adipose tissue attenuation (PCAT). While PCAT holds promise for further risk stratification of patients with low coronary artery disease (CAD) prevalence, its value in higher risk populations remains unknown.MethodsCORE320 enrolled patients referred for invasive coronary angiography with known or suspected CAD. Coronary computed tomography angiography (CCTA) images were collected for 381 patients for whom clinical outcomes were assessed 5 years after enrollment. Using semi-automated image analysis software, PCAT was obtained and normalized for the right coronary (RCA), left anterior descending (LAD), and left circumflex arteries (LCx). The association between PCAT and major adverse cardiovascular events (MACE) during follow up was assessed using Cox regression models.ResultsThirty-seven patients were excluded due to technical failure. For the remaining 344 patients, median age was 62 (interquartile range, 55–68) with 59% having ≥1 coronary artery stenosis of ≥50% by quantitative coronary angiography. Mean attenuation values for PCAT in RCA, LAD, and LCx were ?74.9, ?74.2, and ?71.2, respectively. Hazard ratios and 95% confidence intervals (CI) for normalized PCAT in the RCA, LAD, and LCx for MACE were 0.96 (CI: 0.75–1.22, p ?= ?0.71), 1.31 (95% CI: 0.96–1.78, p ?= ?0.09), and 0.98 (95% CI: 0.78–1.22, p ?= ?0.84), respectively. For death, stroke, or myocardial infarction only, hazard ratios were 0.68 (0.44–1.07), 0.85 (0.56–1.29), and 0.57 (0.41–0.80), respectively.ConclusionsIn patients referred for invasive coronary angiography with suspected CAD, PCAT did not predict MACE during long term follow up. Further studies are needed to understand the relationship of PCAT with CAD risk.     

Go-Ichi-Ni-San 2: A potential biomarker and therapeutic target in human cancers

Cancer incidence and mortality are increasing globally, leading to its rising status as a leading cause of death. The Go-Ichi-Ni-San (GINS) complex plays a crucial role in DNA replication and the cell cycle. The GINS complex consists of four subunits encoded by the GINS1, GINS2, GINS3, and GINS4 genes. Recent findings have shown that GINS2 expression is upregulated in many diseases, particularly tumors. For example, increased GINS2 expression has been found in cervical cancer, gastric adenocarcinoma, glioma, non-small cell lung cancer, and pancreatic cancer. It correlates with the clinicopathological characteristics of the tumors. In addition, high GINS2 expression plays a pro-carcinogenic role in tumor development by promoting tumor cell proliferation and migration, inhibiting tumor cell apoptosis, and blocking the cell cycle. This review describes the upregulation of GINS2 expression in most human tumors and the pathway of GINS2 in tumor development. GINS2 may serve as a new marker for tumor diagnosis and a new biological target for therapy.     

Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation,different phenotype

Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolism and dysrhythmias. Herein we report a familial case of LVNC associated with a mutation in the MYH7 gene and review the literature regarding controversies in LVNC. A 50-year-old woman was referred to the cardiology clinic for palpitations. She underwent echocardiography and cardiac magnetic resonance imaging that revealed mild left ventricular systolic dysfunction and LVNC criteria. She had several episodes of non-sustained ventricular tachycardia and received an implantable cardioverter-defibrillator (ICD). Genetic testing revealed the c.1003G>C (p.Ala335Pro) mutation in the MYH7 gene. Familial screening showed clear genotype-phenotype cosegregation, which provided strong evidence for the pathogenic role of this mutation. To the best of our knowledge, this is the first report of LVNC associated with the p.Ala335Pro mutation in the MYH7 gene. This mutation has been described in hypertrophic cardiomyopathy, suggesting that the same pathogenic sarcomere mutation may be associated with different cardiomyopathies. This case also highlights the current difficulties regarding decisions on ICD implantation for primary prevention of sudden cardiac death in LVNC.     

基于SSR标记与化学成分构建十堰地区天师栗核心种质库＊

目的 利用筛选出十堰的天师栗中高多态性SSR位点评价天师栗种质资源的遗传多样性，结合有效药用成分含量，构建十堰地区天师栗核心种质库。方法 收集十堰地区114份天师栗种质资源，以七叶树基因组为参考，采用荧光毛细管电泳筛选出高多态性SSR位点，对天师栗种质资源进行遗传多样性分析。利用HPLC测定不同种质干燥娑罗子中七叶皂苷的含量。采用最小距离逐步聚类取样策略（LDSS），根据遗传多样性保留程度初步筛选出核心种质，并对该核心种质与原始种质的遗传多样性参数进行T检验，选择与原种质差异不显著的核心种质为最佳核心种质。结果 筛选出13对高多态性SSR分子标记，遗传多样性评价结果表明十堰地区天师栗种质资源遗传多样性较高，遗传分化较小，存在着较大的基因流，114份种质资源未分为不同的亚群，周家坝和辽叶居群间具有较近的遗传亲缘关系，且周家坝居群娑罗子中的七叶皂苷A及七叶皂苷B含量普遍较高。最终筛选出的核心种质共23份，占总种质资源的20.17%，其中周家坝12份样本、辽叶6份样本、普龄5份样本。结论 将SSR分子标记与主要有效药用成分结合，采用LDSS取样策略构建十堰地区天师栗种质资源核心种质库的方法具有可行性，能够有效的保存与管理天师栗种质资源，也为当地天师栗品种改良、新品种选育研究等提供了研究基础。     

The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review

PurposeGenes associated with nonsyndromic hearing loss are commonly included in reproductive carrier screening panels, which are now routinely offered in preconception and prenatal care in many countries. However, there is debate whether hearing loss should be considered a medical condition appropriate for screening. This systematic review assessed research on opinions of those with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting.MethodsSearch of 5 online databases yielded 423 articles, 20 of which met inclusion criteria. We assessed the quality of each study, extracted data, and performed thematic analysis on qualitative studies.ResultsMost studies indicated interest in the use of prenatal diagnosis for deafness. However, there were mixed views, and sometimes strongly held views, expressed regarding the reproductive options that should be available to those with an increased chance of having a child with deafness. Studies were small, from a limited number of countries, and most were too old to include views regarding preimplantation genetic testing.ConclusionThere is a broad range of views regarding the use of reproductive options for deafness. Further research is essential to explore the benefits and harms of including nonsyndromic hearing loss genes in carrier screening.     

When Fryn met Edward: Two rare syndromes in a single patient

A neonate born at our centre was diagnosed as Fryns Syndrome ie congenital diaphragmatic hernia with facial dysmorphism and distal limb anomalies, which is a rare disorder with only a few hundred cases reported till date.With high clinical index of suspicion and further evaluation, the diagnosis was confirmed. The baby was initially stabilized and later underwent repair of the diaphragmatic hernia. Despite best measures, the baby could not be salvaged. When severe, this can be lethal and diagnosis can only be made after autopsy. However, with early suspicion, better modalities of investigations available and improved NICU care, these babies can be salvaged. We report a case of Fryns Syndrome who was incidentally found to have Edward Syndrome as well. Such an extremely rare combination is yet to be reported in medical literature.Also with updated genetic studies, better diagnostics and treatment options coming up in future, there are chances to improve the survivability of these babies. It is prudent to document all such cases to aid in better understanding of the disease process.     

Are risk factors necessary for pretest probability assessment of coronary artery disease? A patient similarity network analysis of the PROMISE trial

BackgroundPretest probability (PTP) calculators utilize epidemiological-level findings to provide patient-level risk assessment of obstructive coronary artery disease (CAD). However, their limited accuracies question whether dissimilarities in risk factors necessarily result in differences in CAD. Using patient similarity network (PSN) analyses, we wished to assess the accuracy of risk factors and imaging markers to identify ≥50% luminal narrowing on coronary CT angiography (CCTA) in stable chest-pain patients.MethodsWe created four PSNs representing: patient characteristics, risk factors, non-coronary imaging markers and calcium score. We used spectral clustering to group individuals with similar risk profiles. We compared PSNs to a contemporary PTP score incorporating calcium score and risk factors to identify ≥50% luminal narrowing on CCTA in the CT-arm of the PROMISE trial. We also conducted subanalyses in different age and sex groups.ResultsIn 3556 individuals, the calcium score PSN significantly outperformed patient characteristic, risk factor, and non-coronary imaging marker PSNs (AUC: 0.81 vs. 0.57, 0.55, 0.54; respectively, p ?< ?0.001 for all). The calcium score PSN significantly outperformed the contemporary PTP score (AUC: 0.81 vs. 0.78, p ?< ?0.001), and using 0, 1–100 and ?> ?100 cut-offs provided comparable results (AUC: 0.81 vs. 0.81, p ?= ?0.06). Similar results were found in all subanalyses.ConclusionCalcium score on its own provides better individualized obstructive CAD prediction than contemporary PTP scores incorporating calcium score and risk factors. Risk factors may not be able to improve the diagnostic accuracy of calcium score to predict ≥50% luminal narrowing on CCTA.     

妊娠合并地中海贫血的产科管理

妊娠合并地中海贫血（thalassemia）是一种发生在妊娠期的单基因组遗传的溶血性疾病。由于血液中血红蛋白的组成比例失衡,妊娠合并地中海贫血患者血液系统发生了改变,可能会影响母体的心脏功能,增加血栓形成风险,损害免疫系统,使内分泌系统紊乱等。以往研究关注妊娠合并地中海贫血的流行病学及发病机制,缺乏对其所带来的并发症的妊娠期管理、遗传咨询及产前诊断的系统性阐述。从病变类型和发病机制入手,深度剖析地中海贫血在妊娠期的特有并发症及相应的处理方式,以期能取得更好的妊娠结局及围生儿结局。