阵发性睡眠性血红蛋白尿症多学科诊疗专家共识(2024)

阵发性睡眠性血红蛋白尿症(paroxysmal nocturnal hemoglobinuria,PNH)是一种由于磷脂酰肌醇聚糖A基因突变引起细胞膜上锚链蛋白糖基磷脂酰肌醇(glycosylphosphatidylinositol,GPI)表达异常所致的后天获得性克隆性造血干细胞疾病,临床常表现为血管内溶血、反复血栓形成及骨髓衰竭,也可出现肾功能异常、肺动脉高压、吞咽困难、胸痛、腹痛、勃起功能障碍等多系统受累的症状。由于PNH为罕见病,且临床表现异质性强,常需进行多学科协作诊疗。北京协和医院依托罕见病诊疗平台,邀请多学科临床专家,在PNH诊疗方面达成了统一意见,并形成《阵发性睡眠性血红蛋白尿症多学科诊疗专家共识(2024)》,以期促进PNH诊疗的标准化、规范化。

遗传性罕见肾脏病:精准肾脏病学的窗口

作为罕见病的重要组成部分,遗传性罕见肾脏病病种繁多,近年来其诊疗研究管理策略均有较大进步,越来越多新基因和新机制被揭示,催生了一批精准医学诊疗新技术和新药临床应用。本文系统梳理了中国罕见病目录中泌尿系统受累的罕见病,举例说明遗传性罕见肾脏病诊疗研究和管理思路、通过拓展生理机制推动新药临床应用的启示,特殊血液净化在危重罕见病领域的应用,展望了未来罕见肾脏病精准诊疗前景。

翻转课堂结合案例中心教学法在医学遗传学课程中的应用

近年来随着基因诊断和药物研发技术的进步,遗传病诊治领域取得了迅猛发展,也对医学遗传学的授课提出了更高的要求。作为一名医学遗传学教师,作者有幸参与了本课程近10余年来的探索改革,从遗传病网络实践活动到翻转课堂结合案例中心教学法,取得了较好的教学效果,在此过程中也对未来的课程设计提出了新的思考。

补体抑制剂在罕见病的临床应用

补体系统是人体的一种自我保护机制,补体系统的异常活化参与多种疾病的发生、发展。补体抑制剂的使用为很多罕见疾病,如阵发性睡眠性血红蛋白尿症(PNH)、非典型溶血尿毒综合征(aHUS)等,带来了里程碑式的进步。近年来,补体抑制剂的应用也逐渐向其他补体相关疾病领域拓展。本文结合近年文献,就补体抑制剂在较为成熟的罕见病领域的应用进行总结,也对其今后在相关罕见病领域的应用前景予以展望。

无尿、突盲、意识障碍:一例不寻常的“成人斯蒂尔斯病”

一例青年女性,因发热、关节痛、皮疹诊断为成人斯蒂尔斯病,激素治疗过程中出现无尿、突盲、意识障碍,病情凶险,诊疗难度大。经多学科协作及团队共同讨论,考虑诊断为不典型溶血尿毒症综合征,经依库珠单抗治疗,获得良好的治疗效果。不典型溶血尿毒症综合征属于罕见疾病,依库珠单抗属于孤儿药。对该例患者的诊治体现了多学科协作在疑难罕见病诊疗过程中的重要意义。

Expenditure of hospital care on cancer in China, from 2011 to 2015

Objective: A solid understanding of levels and trends of spending on cancer is important to evaluate whether our healthcare resources were wisely spent and to prioritize future resources for cancer treatment and prevention. However, studies on economic burden of cancers in China are scant and the results are inconsistent. Methods: The Chinese hospital information database and nearly 350 million inpatient medical record data were used. As the ratios of cancer inpatient payments to total inpatient payments were mainly influenced by the grades and sites of hospitals, the estimates of payments of cancer inpatients in this study were stratified by hospital grades and provinces. Only the payments of cancer inpatients happened in grade 2, grade 3 and specialized cancer hospitals were included in the analyses. The total medical payments of cancers in China were estimated based on the ratios of outpatient payments to inpatient payments in specialized cancer hospitals. Results: From 2011 to 2015, the payments of cancer inpatients in China have increased by 84.1% and the total inpatient payments reached 177.1 billion RMB in 2015, accounting for 4.3% of the total health expenditure in China. Based on the ratio of outpatient payments to inpatient payments, the total payments on cancer treatments in China were estimated to be 221.4 billion RMB in 2015. Among different cancer types, the highest payments were the treatment of trachea, bronchus and lung cancer. The major cancer inpatient payments (67.1% in 2015) spent in grade 3 general hospitals and this ratio increased continually from 2011 to 2015. The expenditure of cancer treatments also varies by region with the major expenditure in the eastern region of China. Conclusions: This study estimated the total payments of cancer treatments in China and analyzed how the money was spent on cancer treatments in the recent 5 years, which would provide information for decision makings on the allocation of resources to service provisioning, prevention strategies, research funding, and assessing whether the economic burden of cancer is affordable to the governments.

Contemporary trends on expenditure of hospital care on total cancer and its subtypes in China during 2008-2017

Objective:To describe the contemporary trends in total,inpatient,and outpatient expenditure on major subtypes of cancer in different classifications of hospitals in China's Mainland.Methods:Home page of Inpatient Medical Records(HIMRs)and Hospital Annual Reports(HARs)were used to estimate hospital care expenditure on cancer.Inpatient payments and their share of cancer were calculated with the top-down method.Kriging spatial interpolation methods were used at the county level and summed at the province level.Outpatient expenditure was estimated with inpatient expenditure and the ratios of outpatient to inpatient payments in specialized cancer hospitals,stratified by province.Total expenditure on cancer was the sum of both payments.Log-linear regression was applied to estimate annual percentage change(APC)of expenditure.Results:Total expenses for cancer of Chinese residents reached up to 304.84 billion Chinese Yuan(CNY)in2017,accounting for 5.8%of the total health expenses(THE).After adjusting for consumer price index(CPI),medical expenses for cancer have increased from 63.30 billion CNY in 2008 to 249.56 billion CNY in 2017[APC:15.2%,95%confidence interval(95%CI):13.4%-17.0%].The APC was slightly higher than THE around 2013,while was lower after 2013.During 2008-2017,the ratio of inpatient to outpatient costs for cancer decreased from4.3:1 to 3.8:1.The inpatient payments for cancer mainly happened in grade 3 general hospitals,East China,and among lung,colorectal,and stomach cancer;while the fastest increase was found in West China,and among thyroid,prostate,and colorectal cancer.Conclusions:During 2008-2017,the rapid growth trend of medical expenses for cancer has been effectively controlled with the continuous deepening of medical reform and improvements of residents’health care.More attention should be paid to potential increases of medical costs caused by technological progress and demand release.Socialized and multi-channel insurance financing modes should be explored in the future.

Liver injury in COVID-19:Detection,pathogenesis,and treatment

In the early December 2019,a novel coronavirus named severe acute respiratory syndrome coronavirus 2 was first reported in Wuhan,China,followed by an outbreak that spread around the world.Numerous studies have shown that liver injury is common in patients with coronavirus disease 2019(COVID-19),and may aggravate the severity of the disease.However,the exact cause and specific mechanism of COVID-associated liver injury needs to be elucidated further.In this review,we present an analysis of the clinical features,potential mechanisms,and treatment strategies for liver injury associated with COVID-19.We hope that this review would benefit clinicians in devising better strategies for management of such patients.

Advances in neovascularization after diabetic ischemia

With the high incidence of diabetes around the world,ischemic complications cause a serious influence on people’s production and living.Neovascularization plays a significant role in its development.Therefore,neovascularization after diabetic ischemia has aroused attention and has become a hot spot in recent years.Neovascularization is divided into angiogenesis represented by atherosclerosis and arteriogenesis characterized by coronary collateral circulation.When mononuclear macrophages successively migrate to the ischemia anoxic zone after ischemia or hypoxia,they induce the secretion of cytokines,such as vascular endothelial growth factor and hypoxia-inducible factor,activate signaling pathways such as classic Wnt and phosphatidylinositol 3 kinase(PI3K)/protein kinase B(Akt)pathways,trigger oxidative stress response,activate endothelial progenitor cells or enter the glycolysis or lactic acid process and promote the formation of new blood vessels,remodeling them into mature blood vessels and restoring blood supply.However,the hypoglycemic condition has different impacts on neovascularization.Consequently,this review aimed to introduce the mechanisms of neovascularization after diabetic ischemia,increase our understanding of diabetic ischemic complications and their therapies and provide more treatment options for clinical practice and effectively relieve patients’pain.It is believed that in the near future,neovascularization will bring more benefits and hope to patients with diabetes.

Influencing factors of inpatient expenditure pattern for cancer in China, 2015

Objective： We analyzed the proportion of cancer-caused hospitalization expenses in total hospitalization expenses from national authoritative data and explored influencing factors of the proportion so as to provide effective data information for more rational utilization of health resources.Methods： Two-level lineal regression model was used to explore influencing factors of ratios of the cancer inpatient expenditure over the total inpatient expenditure of hospitals in China in 2015. A total of 40.76 million inpatient medical records were used to generate the outcome variables, while the explanatory variables were from hospital information database and China Health and Family Planning Statistical Yearbook and literatures.Results： Inpatient expenditure pattern for cancer（IEPC） varied largely across provinces, ranging from 3.03% to19.61%. The major sources of variability were from the differences of hospital level and number of beds. There was homogeneity within a province, while heterogeneity between the provinces. Rising one level of the hospital led to the increase of 0.475 natural logarithm units of IEPC averagely. The number of beds increasing 1,000 each made the natural logarithm of IEPC increase one unit averagely.Conclusions： Our study showed that a considerable proportion of IEPC variation could be explained by the differences of hospital level and number of beds. It implied that it is possible to estimate disease-specific ratio of inpatient expense taking into account key influencing factors in China. Furthermore, this study is an input to economic and financial analyses and provides evidence for future study on the national economic burden of cancer.

Computational implementation of a GIS developed tool for prediction of dynamic ground movement and deformation due to underground extraction sequence

In the last century, there has been a significant development in the evaluation of methods to predict ground movement due to underground extraction. Some remarkable developments in three-dimensional computational methods have been supported in civil engineering, subsidence engineering and mining engineering practice. However, ground movement problem due to mining extraction sequence is effectively four dimensional （4D）. A rational prediction is getting more and more important for long-term underground mining planning. Hence, computer-based analytical methods that realistically simulate spatially distributed time-dependent ground movement process are needed for the reliable long-term underground mining planning to minimize the surface environmental damages. In this research, a new computational system is developed to simulate four-dimensional （4D） ground movement by combining a stochastic medium theory, Knothe time-delay model and geographic information system （GIS） technology. All the calculations are implemented by a computational program, in which the components of GIS are used to fulfill the spatial-temporal analysis model. In this paper a tight coupling strategy based on component object model of GIS technology is used to overcome the problems of complex three-dimensional extraction model and spatial data integration. Moreover, the implementation of computational of the interfaces of the developed tool is described. The GIS based developed tool is validated by two study cases. The developed computational tool and models are achieved within the GIS system so the effective and efficient calculation methodology can be obtained, so the simulation problems of 4D ground movement due to underground mining extraction sequence can be solved by implementation of the developed tool in GIS.

“泛偶像”时代青少年榜样教育困境与路径

偶像作为青少年自身异化人格符号的外在表现,在资本的运作和娱乐的裹挟下,超出自身的限度,溢出到社会生活中,造就了“泛偶像”时代的狂欢幻象。“泛偶像”时代具有表征易变性,在潜移默化中形塑着青少年价值观,使其趋于娱乐化庸俗化,导致青少年对榜样教育接受度低。传统榜样弊端突出,一些不负责任的媒体宣传导致榜样教育缺乏合力,青少年榜样教育面临困境。通过把握“泛偶像”时代的特征,明晰榜样教育的困境,探寻“泛偶像”时代青少年榜样教育的出路,从而唤醒传统榜样教育的生机与活力,建构“偶像—榜样”的效用互补机制,最终实现青少年从自发到自觉的榜样学习模式。

Faecal microbiota transplantation enhances efficacy of immune checkpoint inhibitors therapy against cancer

Even though immune checkpoint inhibitors(ICIs)are effective on multiple cancer types,there are still many non-responding patients.A possible factor put forward that may influence the efficacy of ICIs is the gut microbiota.Additionally,faecal microbiota transplantation may enhance efficacy of ICIs.Nevertheless,the data available in this field are insufficient,and relevant scientific work has just commenced.As a result,the current work reviewed the latest research on the association of gut microbiota with ICI treatments based on anti-programmed cell death protein 1 antibody and anti-cytotoxic T-lymphocyte-associated protein 4 antibody and explored the therapeutic potential of faecal microbiota transplantation in combination with ICI therapy in the future.

Analysis of inpatient payments of breast cancer patients with different medical insurance coverages in China(mainland) in 2011–2015

Objective： An understanding of the levels and trends of medical cost is made for breast cancer patients with different medical insurance coverages in China（mainland）, in an attempt to offer a clue to further control the costs.Methods： The inpatient payments of 9,716,180 breast cancer patients spent in medical institutions of different types and grades during 2011–2015 were collected from the inpatient medical record home page（IMRHP） dataset.The data were then processed with SAS（Version 9.3; SAS Institute, Cary, NC, USA）. Indicators like means,increase（decrease） percentages were used to descriptively analyze the average hospitalization expense of each time（AHEET） and its trends of breast cancer patients with different medical insurance coverages treated in medical institutions of different types and grades.Results：In 2011–2015,the AHEET borne by breast cancer patients in China had been constantly increasing.Specifically,the self-pay inpatients had the largest increase,inpatients covered by Urban Employee Basic Medical Insurance（UEBMI）and Urban Resident Basic Medical Insurance（URBMI）were the next,and those covered by New Rural Cooperative Medical System（NRCMS）had the least increase.Breast cancer inpatient treated in public hospitals had quite greater increase and higher expenditure level than those in private hospitals.The AHEET borne by the inpatients in Grade 3 hospitals had greater increase and higher cost than those in Grade 2 hospitals.Conclusions：The inpatient payments of breast cancer patients will be wisely controlled by reducing the number of self-pay inpatients,taking advantage of restriction mechanism of the medical insurances,and promoting healthy competition between private hospitals and public hospitals.The economic burden imposed on the society by breast cancer can be relieved through further control of inpatient payments of UEBMI-and URBMI-covered breast cancer patients and of Grade 3 hospitals.

Effectiveness and safety of over-the-scope clip in closing perforations after duodenal surgery

BACKGROUND Endoscopic resection of duodenal subepithelial lesions(SELs)is a difficult procedure with a high risk of perforation.At present,dealing with perforation after endoscopic resection of duodenal SELs is still considered a great challenge.AIM To evaluate the effectiveness and safety of an over-the-scope clip(OTSC)in the treatment of perforation post-endoscopic resection of duodenal SELs.METHODS From May 2015 to November 2019,18 patients with perforation following endoscopic resection of duodenal SELs were treated with OTSCs.Data comprising the rate of complete resection,closure of intraprocedural perforation,delayed bleeding,delayed perforation,and postoperative infection were extracted.RESULTS The rate of complete removal of duodenal SELs and successful closure of the perforation was 100%.The median perforation size was 1 cm in diameter.Seventeen patients had minor intraoperative bleeding,while the remaining 1 patient had considerable amount of bleeding during the procedure.Seven patients had postoperative abdominal infections,of which 1 patient developed an abscess in the right iliac fossa and another patient developed septic shock.All 18 patients recovered and were discharged.No delayed bleeding or perforation was reported.The mean time taken to resume normal diet after the procedure was 6.5 d.The mean postoperative hospital stay was 9.5 d.No residual or recurrent lesions were detected during the follow-up period(15-66 mo).CONCLUSION Closing a perforation after endoscopic resection of duodenal SELs with OTSCs seems to be an effective and reasonably safe therapeutic method.

Effectiveness and safety of endoscopic resection for duodenal gastrointestinal stromal tumors:A single center analysis

BACKGROUND Endoscopic resection for duodenal gastrointestinal stromal tumors(GISTs)is still considered a great challenge with a high risk of complications,including perforation,bleeding,tumor rupture,and residual tumor.AIM To assess the effectiveness and safety of endoscopic resection for duodenal GISTs.METHODS Between January 2010 and January 2022,11 patients with duodenal GISTs were treated with endoscopic resection.Data were extracted for the incidence of complete resection,bleeding,perforation,postoperative infection,recurrence,and distant metastasis.RESULTS The incidence of successful complete resection of duodenal GISTs was 100%.Three cases(27.3%)had suspected positive margins,and the other 8 cases(72.7%)had negative vertical and horizontal margins.Perforation occurred in all 11 patients.The success rate of perforation closure was 100%,while 1 patient(9.1%)had suspected delayed perforation.All bleeding during the procedure was managed by endoscopic methods.One case(9.1%)had delayed bleeding.Postoperative infection occurred in 6 patients(54.5%),including 1 who developed septic shock and 1 who developed a right iliac fossa abscess.All 11 patients recovered and were discharged.The mean hospital stay was 15.3 d.During the follow-up period(14-80 mo),duodenal stenosis occurred in 1 case(9.1%),and no local recurrence or distant metastasis were detected.CONCLUSION Endoscopic resection for duodenal GISTs appears to be an effective and safe minimally invasive treatment when performed by an experienced endoscopist.

Future prospect of“Gut microbiome composition can predict the response to nivolumab in advanced hepatocellular carcinoma patients”

Recently,we read the article“Gut microbiome composition can predict the response to nivolumab in advanced hepatocellular carcinoma patients”with interest,and it is preliminary suggested that gut microbiota is closely related to therapeutic effect of nivolumab.Based on the meaningful results of this article,several valuable research directions are proposed to enhance the therapeutic effect of immune checkpoint inhibitors on advanced hepatocellular carcinoma.

Study of Problems Arising during Perioperative Care of Postoperative Endophthalmitis

Purpose:.To discuss the problems in perioperative nursing care for patients with postoperative infectious endophthalmitis.Methods: The medical records of 34 patients(35 eyes) presenting with infectious endophthalmitis at Zhongshan Ophthalmic Center,.Sun Yat-sen University between April 2002 and December 2013 were collected to analyze preoperative and postoperative nursing care for endophthalmitis after ocular surgery.Results:Thirty-four patients(35 eyes) developed complications of infectious endophthalmitis after surgery..Thirty-three cases were successfully cured and only one patient(1 eye) was untreated due to Pseudomonas aeruginosa infection.Conclusion: Perioperative nursing care plays a pivotal role in preventing and controlling the incidence and development of postoperative infectious endophthalmitis.

On Visualization Analysis of Stock Data

Big data technology is changing with each passing day,generating massive amounts of data every day.These data have large capacity,many types,fast growth,and valuable features.The same is true for the stock investment market.The growth of the amount of stock data generated every day is difficult to predict.The price trend in the stock market is uncertain,and the valuable information hidden in the stock data is difficult to detect.For example,the price trend of stocks,profit trends,how to make a reasonable speculation on the price trend of stocks and profit trends is a major problem that needs to be solved at this stage.This article uses the Python language to visually analyze,calculate,and predict each stock.Realize the integration and calculation of stock data to help people find out the valuable information hidden in stocks.The method proposed in this paper has been tested and proved to be feasible.It can reasonably extract,analyze and calculate the stock data,and predict the stock price trend to a certain extent.