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    China Alzheimer Report 2024
    WANG Gang, QI Jinlei, LIU Xinya, REN Rujing, LIN Shaohui, HU Yisong, LI Haixia, XIE Xinyi, WANG Jintao, LI Jianping, ZHU Yikang, GAO Mengyi, YANG Junjie, WANG Yiran, JING Yurong, GENG Jieli, ZHI Nan, CAO Wenwei, XU Qun, YU Xiaoping, ZHU Yuan, ZHOU Ying, WANG Lin, GAO Chao, LI Binyin, CHEN Shengdi, YUAN Fang, DOU Ronghua, LIU Xiaoyun, LI Xuena, YIN Yafu, CHANG Yan, XU Gang, XIN Jiawei, ZHONG Yanting, LI Chunbo, WANG Ying, ZHOU Maigeng, CHEN Xiaochun, representing the China Alzheimer's Disease Report Writing Group
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 219-256.   DOI: 10.16150/j.1671-2870.2024.03.001
    Abstract15560)   HTML1127)    PDF(pc) (3389KB)(12515)       Save

    With the sustained growth of economy and significant changes in social demographics, the issue of elderly-related diseases has increasingly drawn attention particularly. Alzheimer's disease (AD),as a representative disease of neurodegenerative diseases has become a major challenge, affecting the health and quality of life among the elderly population severely. In recent years, the incidence, prevalence, and mortality rate of AD increase in China, imposing substantial economic burdens on families, society, and the entire healthcare system. To proactively address this challenge and respond to the national 'Healthy China Action' initiative, leading experts from Renji Hospital, Shanghai Jiao Tong University School of Medicine,and Chinese Center for Disease Control and Prevention Chronic Non-communicable Disease Control Center, Fudan University School of Public Health, Shanghai Mental Health Center, Ruijin Hospital,Shanghai Jiao Tong University School of Medicine, Fujian Medical University, and other authoritative institutions, have jointly authored the 'China Alzheimer Disease Report 2024'. Building upon previous editions of 2021, 2022, and 2023, this report updates epidemiological data on AD in China, thoroughly analyzes the latest economic burdens of the disease, and comprehensively evaluates the current status of AD diagnosis and treatment services, as well as the allocation of public health resources in our country. The release of the 'China Alzheimer Disease Report 2024' not only reflects China's progress and efforts in AD research and prevention, but also underscores the social heightened concern for elderly health issues. It aims to provide scientific and technical guidance and robust data support for the prevention, diagnosis, and treatment of AD, offering a professional basis for the government and relevant departments to formulate targeted health policies and intervention measures. Furthermore, it serves as a platform for promoting academic exchanges and cooperation in this field domestically and internationally. Through the dissemination and application of this report, we anticipate it will not only serve as a reference for professionals but also enhance public awareness of AD, promote active participation across various sectors of society, and jointly advance the development of elderly health care in China, empowering us towards achieving 'healthy aging'.

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    Journal of Diagnostics Concepts & Practice    2021, 20 (04): 317-337.   DOI: 10.16150/j.1671-2870.2021.04.001
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    Interpretation on the report of global stroke data 2022
    TANG Chunhua, GUO Lu, LI Qiong, ZHANG Lili
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 238-246.   DOI: 10.16150/j.1671-2870.2023.03.06
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    In 2022, the World Stroke Organization released two new reports regarding global stroke statistics in the International Journal of Stroke. The reports updated the global incidence and mortality of stroke, evaluated the effects of gender and geographic factors, and provided updated statistics on attributable risk factors associated with stroke. This article briefly interprets the two reports in the context of stroke prevalence and disease burden in China. 2019 Global Burden of Disease Study findings show that stroke remains the second-leading cause of death and the third-leading cause of death and disability combined in the world. From 1990 to 2019, the burden (in terms of the absolute number of cases) increased substantially, with the bulk of the global stroke burden residing in lower-income and lower-middle-income countries. Moreover, people under 70-year-old were observed to have significant increases in stroke prevalence and incidence. The five major risks for stroke globally include high systolic blood pressure, high body mass index, high fasting glucose, environmental particulate matter pollution, and smoking. Stroke prevention and treatment in China are facing great challenges. Stroke has become the leading cause of death and disability among Chinese adults, as well as the leading cause of disability adjusted life year lost. The incidence, prevalence and mortality of stroke in China are geographically high in the north, low in the south and prominent in the central part of the country; the prevalence is higher in rural areas than that in urban areas; the morbidity and mortality rates are higher in men than those in women; the average age of onset is lower than in developed countries; the overall disease burden of ischemic stroke is on the rise, but that of hemorrhagic stroke is on the decline. The awareness of stroke prevention and treatment was low. In conclusion, it is of strategic importance to actively establish a graded stroke prevention and control system that meets the national conditions.

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    Report on diagnosis and treatment of hemophilia in China 2023
    XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi
    Journal of Diagnostics Concepts & Practice    2023, 22 (02): 89-115.   DOI: 10.16150/j.1671-2870.2023.02.001
    Abstract3515)   HTML106)    PDF(pc) (1494KB)(3986)       Save

    In recent years, China attaches great importance to the prevention and treatment of rare diseases. As one of the representative diseases of rare diseases, management of Hemophilia has made great progress in China. From 1986 to 1989, the National Hemophilia Cooperative Group conducted China's hemophilia epidemiological survey according to the unified method and standard, and the results showed that the prevalence of hemophilia was 2.73/100 000, and there was no statistical difference in prevalence among different regions. In 2014, Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100 000, and in 2018, based on the data of the urban population of Tianjin, the local prevalence of hemophilia was estimated to be 3.09/100 000. With the comprehensive promotion of the construction of hemophilia hierarchical diagnosis and treatment system, China requires that hospitals applying for hemophilia comprehensive management centers and diagnosis and treatment centers must be able to independently carry out screening tests and confirmatory tests related to hemophilia diagnosis. For diagnosis of hemophilia, most laboratories in China usually adopt the one-stage method (coagulation method) based on the activated partial thromboplastin time (APTT) for the determination of coagulation factor activity, but it should be noted that more than two activity detection methods are required for some special types of hemophilia. The types of each mutation in the F8 gene of patients in China are similar to those reported in international data, and the mutations in the F9 gene of our patients are mainly single base point mutations, with no mutation hotspots found. As of June 2023, a total of more than 40 000 cases with inherited bleeding disorders registered in 261 centers in China (including hemophilia), through the National Hemophilia Registration System. The history of hemophilia treatment in China has been explored through inadequate on-demand and low-dose prophylaxis, and is now moving towards higher-dose prophylaxis and individualized prophylaxis with higher efficacy. Based on the above registry data and literature, this report comprehensively summarizes the progress of basic and clinical research and medical protection in the field of hemophilia in China, and analyzes the shortcomings for further improvement of hemophilia diagnosis and treatment in China.

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    Phenotypes of chronic obstructive pulmonary disease with preserved ratio impaired spirometry (PRISm)
    SUN Xianwen, LI Qingyun
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 234-237.   DOI: 10.16150/j.1671-2870.2023.03.05
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    The Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2023 first proposed “Preserved Ratio Impaired Spirometry (PRISm)”, which is the ratio of post-bronchodilator forced expiratory volume in one second to forced vital capacity is normal (FEV1/FVC ≥ 0.7) as pulmonary ventilation function is impaired (post-bronchodilator FEV1% and/ or FVC%<80%. It is particularly necessary to pay attention to the PRISm population with significant FVC deterioration. PRISm was associated with increased incidence of complications and all-cause mortality in the patients with in chronic obstructive pulmonary disease (COPD). In GOLD 2023, it was clarified that PRISm patients should be considered as COPD patients for early screening, standardized treatment, due to their significant clinical symptoms, lung function deterioration, and or abnormal bronchoalveolar structure even if their airway limitation does not meet the criteria for COPD. The cohort studies for large sample, multi-center, long-term follow-up with PRISm in China should be investigated in future.

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    Interpretation of Multiple Myeloma Guidelines update (version 2, 2023) of National Comprehensive Cancer Network (NCCN)
    TAO Yi, MI Jianqing
    Journal of Diagnostics Concepts & Practice    2023, 22 (02): 121-126.   DOI: 10.16150/j.1671-2870.2023.02.003
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    Multiple myeloma (MM) is the second most common hematological malignancy. With the continuous advent of new drugs, the survival of MM patients has been significantly improved, with a median survival of 7-10 years. However, the overall survival of high-risk MM patients is still less than 3 years, and extending the survival of high-risk MM has always been a hot topic in this field. The National Comprehensive Cancer Network (NCCN) released the 2nd version of the MM guidelines for 2023 (2023. v2). Compared with the 5th edition of the MM guidelines for 2022, the update of this guideline in diagnosis is mainly reflected in the detailed description of high-risk MM in tabular form, including both cytogenetic high-risk factors containing 1q21 gain/amplification and clinical high-risk factors, such as extramedullary disease, renal failure and weakness. In terms of treatment, the updated guideline still emphasizes the importance of autologous hematopoietic stem cell transplantation in the era of new drugs, and indicates that the judgment of whether patients are suitable for transplantation needs to be dynamically adjusted based on the patients’ condition after initial treatment. 2023. v2 upgrades the recommendation of the new generation proteasome inhibitor carfilzomib in initial induction and CD38 monoclonal antibody in maintenance therapy. The combinations of these new drugs with immunomodulatory drug pomalidomide are also listed as the preferred regimens in relapsed patients. The diagnostic techniques for distinguishing high-risk MM and new drugs recommended in the updated guideline are currently available in China, Which greatly enhanc our confidence in the “clinical cure” of MM. A comprehensive interpretation of the 2023. v2 of the guidelines is expected to improve the diagnostic and therapeutic level of clinicians, and further improve the prognosis of China’s MM patient population, especially high-risk patients.

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    Lung cancer worldwide and in China from 1990 to 2020: prevalence and prevention measures
    WANG Zezhou, ZHENG Ying
    Journal of Diagnostics Concepts & Practice    2023, 22 (01): 1-7.   DOI: 10.16150/j.1671-2870.2023.01.001
    Abstract2295)   HTML60)    PDF(pc) (946KB)(3987)       Save

    From 1990 to 2020, the number of newly diagnosed cases of lung cancer in the world continued to grow, but the prevalence remained stable. As time went, the incidence (world standard incidence, adjusted with age structure of world population) of lung cancer changed in gender, region, age, and histological type. The difference between male and female in incidence continued to narrow, with male incidence declining by 12.5% and female incidence rising by 22.3%. There were obvious regional differences in the incidence of lung cancer. From 1998 to 2012, the incidence of male lung cancer in Europe, Asia and North America showed a downward trend (the average annual change percentages were -1.6%, -0.6% and -2.5%, respectively), while the incidence of female lung cancer showed a upward trend except North America. From 1998 to 2012, the average age of lung cancer patients in all regions of the world showed a trend of increasing year by year. The average age at diagnosis of lung cancer in Asian men increased from 67.21 years in 1998 to 69.14 years in 2012. Patterns of histological types of lung cancer have also changed. Since the early 1980s, the proportion of squamous cell lung cancer has declined. Since 2004, adenocarcinoma has become the most common histological type of lung cancer in the world. In 2020, China had the largest cases of newly diagnosed lung cancer in the world. From 1989 to 2008, urban-rural ratio of lung cancer incidence dropped from 2.07 to 1.14. In economically underdeveloped areas, the incidence of lung cancer was also rising, and the situation in some areas with high incidence of lung cancer had been controlled. China, as the largest tobacco producer and consumer country, has to be serious with the control of tobacco. Risk of lung cancer caused by environmental pollution is gradually lower. Controlling occupational exposure is also the key to preventing lung cancer in China, and establishing a mornitoring network for risk factors is the direction in future.

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    Interpretation of the Global Tuberculosis Report 2022 by World Health Organization
    LIANG Chen, YU Jiajia, TANG Shenjie
    Journal of Diagnostics Concepts & Practice    2023, 22 (01): 21-30.   DOI: 10.16150/j.1671-2870.2023.01.004
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    Global Tuberculosis Report 2022 (hereafter referred to as “report”), newly published by the World Health Organization (WHO), states that the coronavirus (COVID-19) pandemic has increased the tuberculosis (TB) disease burden and severely affected global TB prevention and control. In 2021, WHO approved a total of six molecular diagnostic technologies for TB diagnosis and anti-TB drug resistance detection, and three new TB antigen-based skin tests for TB screening were recommended. To reduce the burden on patients and the health system, WHO recommends a 4-month regimen for drug-susceptible TB and four shorter regimens for the treatment of multidrug-resistant/rifampicin-resistant tuberculosis (MDR/RR-TB). In addition, there were 26 drugs for TB treatment in clinical trials, and at least 22 clinical trials evaluating drugs and drug regimens for TB treatment were underway. In 2021, the TB epidemic remains severe in China, with the number of newly diagnosed cases ranking third among the 30 countries. In 2021, a total of 639 548 TB cases and 1 763 deaths were reported nationwide, with an incidence of 45.37/100 000 and a mortality of 0.13/100 000. China has the fourth largest number of MDR/RR-TB patients in the world. However, it is necessary to verify whether the regimens for MDR/RR-TB treatment recommended by WHO are suitable for patients in China.

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    Establishment and application of thrombophilia gene detection panel based on next generation sequencing in identification of genetic background of Chinese patients with venous thromboembolism
    LI Lei, WU Xi, XU Guanqun, LIANG Qian, DAI Jing, WU Wenman, DING Qiulan, WANG Hongli, WANG Xuefeng
    Journal of Diagnostics Concepts & Practice    2019, 18 (04): 394-401.   DOI: 10.16150/j.1671-2870.2019.04.004
    Abstract2112)   HTML14)    PDF(pc) (769KB)(412)       Save

    Objective: To develop an accurate, simple and practical method for detecting hereditary risk factors of thrombophilia, which can be used for early diagnosis and treatment guidance in Chinese thrombophilia patients. Methods: Altogether 246 patients with venous thrombosis at our hospital were enrolled. The clinical data and family history were collected. Phenotypic examinations were performed. Eighteen candidate genes related to thrombosis were selected to compose a gene panel through literature searching. Point mutation, small deletion/insertion and copy number variations of this panel were detected by next-generation sequencing and CNVplex® technique. Results: Of the 246 patients with venous thrombosis, 159 patients were identified as having gene mutations. The mutation detection rate was 64.6%. Among them, 69.2% carried a single mutation, 13.2% carried compound heterozygous mutation in one gene, and 17.6% carried mutations of at least two genes. Of the 159 patients carrying gene mutations,144 patients carried mutations of anticoagulant protein genes(SERPINC1, PROS1 and PROC), while 31 patients carried mutations of other 10 genes (F2, F5, F9, F12, PROCR, THBD, SERPIND1, PLG, ADAMTS13 and TFPI), in which some mutations (F2 R384Q and F9 R596Q) had been confirmed to be associated with venous thrombosis. Copy number detection showed that 19 patients had copy number variations, mainly in PROCR and PROS1 genes. In addition, 40 of 61 patients with acquired thrombosis risk factors (antiphospholipid syndrome, surgery or pregnancy, etc.) carried hereditary thrombosis risk factors. Of the 56 patients with normal phenotypic results, 20 of them carried pathogenic thrombotic mutations revealed by genetic analysis. Moreover, of the 72 patients who were in the acute stage of thrombosis or during anticoagulants treatment thus could not take phenotypic examination, 32 were identified as having pathogenic thrombotic mutations. Conclusions: The hemophilia gene detection panel established can screen the hereditary thrombosis risk factors more quickly, effectively and accurately. It is necessary to carry out genetic analysis in patients with acquired risk factors. According to the results of gene analysis, clinicians can provide appropriate preventive treatment to prevent the occurrence or recurrence of thrombosis, and to reduce the occurrence of post-thrombotic syndrome, and is worthy of application in clinical practice.

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    Journal of Diagnostics Concepts & Practice    2012, 11 (02): 111-115.   DOI: 10.16150/j.1671-2870.a1253
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    Clinical characteristics of different pathological subtypes of T1 invasive lung adenocarcinoma and analysis of prognosis
    DU Hailei, CHE Jiaming, ZHU Lianggang, LI Hecheng, HANG Junbiao
    Journal of Diagnostics Concepts & Practice    2018, 17 (01): 82-86.   DOI: 10.16150/j.1671-2870.2018.01.015
    Abstract2097)      PDF(pc) (888KB)(592)       Save
    Objective: To study the clinicopathological features and prognostic significance of different pathological subtypes of T1 invasive lung adenocarcinoma for providing a reference for the monitoring and treatment strategy of lung adenocarcinoma. Methods: A total of 120 patients undergone surgical treatment and confirmed by postoperative pathology as invasive lung adenocarcinoma with tumor diameter less than or equal to 3 cm from Jan. 2009 to Jan, 2011 were enrolled. The patients were divided into five groups according to dominant pathological subtypes: lepidic group,acinar group, papillary group, micro-papillary group, and solid group. The clinical and pathological data of the patients were analyzed retrospectively. Kaplan-Meier method was used to calculate survival rate. Log-Rank test was used to compare survival difference. COX regression analysis was used to determine the risk factors of prognosis. Result: There were no significant differences in age, sex, CEA level and tumor differentiation between the five groups(P>0.05). Meanwhile, there were significant differences in invasion of visceral pleura, lymph node metastasis, TNM stage and recurrence or metastasis after operation between the five groups(P<0.05). Among the five subtypes, lymph node metastasis rate (62.5%) and postoperative recurrence rate (41.6%) were the highest in micro-papillary group. Survival analysis showed that lipidic group had the best prognosis, the 5 year survival rate was 96.0%; the prognosis of micro-papillary group was the worst, and the 5 year survival rate was 66.7%. The difference was statistically significant(P<0.05). Pathological subtypes, lymph node metastasis and TNM staging were the risk factors influencing the prognosis of stage T1 invasive lung adenocarcinoma. Different pathological subtypes and lymph node metastasis were the independent prognostic factors (OR>1). Conclusions: The prognosis of T1 invasive adenocarcinoma of lung is related to pathological subtype and lymph node metastasis. Micro-papillary subtypes indicate higher lymph node metastasis and poor prognosis. More aggressive treatment and observation might be needed after operation of micro-papillary subtype of invasive lung adenocarcinoma.
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    Summary and interpretation of the World Health Organization “Global Report on Hypertension”
    ZHANG Dongyan, LI Yan
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 297-304.   DOI: 10.16150/j.1671-2870.2024.03.007
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    In 2023, the World Health Organization (WHO) released the first document of “Global report on hypertension—The race against a silent killer”. which covers the global prevalence and management of hypertension, analyzes the mortality and disease burden caused by hypertension, explores the risk factors for hypertension, evaluates the cost-effectiveness of blood pressure treatment, and presents successful examples of hypertension management in many countries, especially the global implementation of the WHO-launched HEARTS project for hypertension control. Hypertension is a significant global public health challenge with severe health implications. Over the past 30 years, the number of people with hypertension (defined as systolic blood pressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg, or taking antihypertensive medication) has doubled, rising from 650 million in 1990 to 1.3 billion in 2019. Among the global hypertensive population aged 30-79, approximately 54% have been diagnosed, of which 42% are receiving antihypertensive treatment, and only 21% have controlled blood pressure. In 2019, elevated systolic pressure was responsible for over half of cardiovascular disease deaths globally. Increasing the global hypertension control rate to 50% could prevent 76 million deaths from 2023 to 2050. Population-level risk factors for hypertension include high salt and low potassium intake, alcohol consumption, physical inactivity, and air pollution. WHO advocates for the prevention and control of hypertension through measures such as reducing dietary sodium intake, increasing potassium intake, limiting alcohol consumption, quitting smoking, increasing physical activity, and improving air quality. In terms of treatment, WHO guidelines recommend antihypertensive medication for individuals with systolic blood pressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg. For specific populations, it is also recommended to start antihypertensive treatment when systolic blood pressure is between 130-139 mmHg. The use of single-pill combination therapy is also advised to improve adherence and persistence in treatment. The prevalence and management of hypertension in China are also noteworthy. Hypertension is a major cause of mortality and disease burden in the Chinese population. By learning from global successes in hypertension management, China can enhance its efforts in the prevention, control, and monitoring of hypertension, particularly by promoting the application of the HEARTS technical package to improve hypertension management. This report aims to draw attention to major non-communicable diseases, particularly hypertension, as a public health challenge. Through detailed data analysis and successful case studies, the report underscores the importance of hypertension prevention and control, providing scientific evidence for policy-making across countries. This collective effort aims to achieve the global goal of a 25% relative reduction in uncontrolled hypertension prevalence by 2025 compared to 2010. This article will interpret briefly the reports based on the prevalence and management of hypertension in China.

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    Journal of Diagnostics Concepts & Practice    2004, 3 (02): 29-33.   DOI: 10.16150/j.1671-2870.a2045
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    DNA methylation detection assists early screening and diagnosis of tumors
    LIU Yifei
    Journal of Diagnostics Concepts & Practice    2023, 22 (04): 393-401.   DOI: 10.16150/j.1671-2870.2023.04.011
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    DNA methylation is one of the most widely used indicator for early cancer screening. Under the influence of carcinogens, hypermethylation of the promoter region of tumor suppressor genes may lead to downregulation or silencing of gene expression, thereby activating the expression of proto-oncogenes and promoting tumorigenesis. The samples used for DNA methylation detection are mainly exfoliated cells, blood samples and paraffin-embedded tissues. Commonly used detection methods include: methylation-specific polymerase chain reaction (MSP), nucleic acid mass spectrometry, methylation chip, bisulfite sequencing, next-generation sequencing, etc. Compared with mutation detection, the advantages of DNA methylation detection are that it has higher tumor specificity, more detectable sites, higher signal quality, and can achieve tissue traceability. Currently, it is mainly used clinically for medication guidance for brain glioma, aid in diagnosis and high-risk triage for lung cancer, high-risk triage and recurrence monitoring for bladder cancer, high-risk triage for cervical cancer, and early screening and recurrence monitoring for colorectal cancer and gastric cancer. Before large-scale clinical routine application, accurately positioning of the application scenarios for DNA methylation detection must be considered. For well-tolerated endoscopy, the rigid need of DNA methylation detection for high-risk triage may be reduced. DNA methylation detection plays an important role in assisting in the diagnosis of tumors with low pathological diagnosis sensitivity, tumor monitoring and prognosis assessment. With the standardization of testing procedures and quality management, DNA methylation detection will be more widely used to improve the early screening and diagnostic sensitivity of tumors.

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    Journal of Diagnostics Concepts & Practice    2015, 14 (04): 353-356.   DOI: 10.16150/j.1671-2870.a0737
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    Analysis of global burden of bacterial infections: an interpretation of Global mortality associated with 33 bacterial pathogens in 2019
    ZHANG Ying, JIANG Xiaofei
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 541-549.   DOI: 10.16150/j.1671-2870.2023.06.005
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    The Global Burden of Bacterial Infections report showed that in 2019, there were approximately 13.7 million deaths worldwide due to infection (95% UI ranging from 10.9 million to 17.1 million), and bacterial infection related deaths accounted for 13.6% (10.1%-18.1%) of global deaths, making it the second leading cause of death globally, second only to ischemic heart disease. Eleven infectious syndromes involve 33 bacterial pathogens and are associated with 7.7 million deaths worldwide (5.7 million to 10.2 million). Lower respiratory tract infections have caused approximately 4 million deaths worldwide (3.33 million to 4.89 million), with Streptococcus pneumoniae causing the most deaths at 653 000 (553 000 to 777 000); Blood flow infections have caused 2.91 million people (1.74 million to 4.53 million), with Staphylococcus aureus causing the most deaths, at 299 000 people (166 000 to 485 000); Peritoneal and intra-abdominal infections have caused 1.28 million deaths (826 000 to 1.86 million), with Escherichia coli causing the most deaths, reaching 290000 (188 000 to 423 000). The Global Burden of Bacterial Infections report also shows that in 2019, Staphylococcus aureus was associated with over 1 million deaths (resulting in 1.105 million deaths); Escherichia coli causes 450 000 (329 000 to 602 000) female and 500 000 (355 000 to 684 000) male deaths worldwide, while Streptococcus pneumoniae causes over 750 000 deaths worldwide; Klebsiella pneumoniae causes over 750 000 deaths worldwide; Pseudomonas aeruginosa has caused over 500 000 deaths worldwide. The Global Burden of Bacterial Infections report data shows that the pathogens most associated with mortality worldwide vary by age. Staphylococcus aureus is the deadliest pathogen among people aged 15 and above, with 940 000 deaths (682 000 to 1 276 000) in this age group; Salmonella typhi is most associated with mortality in children aged 5-14, with a death toll of 49 000 (23 000-86 000); Streptococcus pneumoniae is most associated with the death of newborns to 4-year-old children, with a death toll of 225 000 (180 000 to 281 000). The Global Burden of Bacterial Infections report estimates the mortality rates of various pathogens and infectious syndromes, some of which were previously unknown and some were severely underestimated, especially in low-and middle-income countries where the burden is disproportionately high. However, there is a lack of corresponding data and research in China, and it is necessary to conduct corresponding surveys and research to develop innovative strategies.

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    Current status and challenges in diagnosis and treatment of systemic lupus erythematosus in China
    ZHANG Xin, ZHAO Shengnan, FENG Xuebing
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 257-262.   DOI: 10.16150/j.1671-2870.2024.03.002
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    Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by multiple system involvements. The number of SLE patients in China is large, and patients suffer more severe condition, with low remission rate ,high recurrence rate ,and high risk of infection.The situation of diagnosis and treatment for SLE is still serious. Relevant research released in 2023 shows that there are about 3.41 million cases of SLE patients in the world,and the number of patients in China amounts to 700 000-1 000 000, ranking the first in the world. The average onset age of SLE patients in China is 30.7 years old, and the incidence ratio of women to men is 12∶1.Organ involvement is more common in China, with 45.02% of renal involvement and 37.2% of haematological involvement, which are significantly higher than those in European patients with SLE (27.9% of renal involvement and 18.2% of haematological involvement). The clinical remission rate of SLE patients in China is 2.47%,while the relief rate reported internationally is 22.9%. Currently, the short-term survival rate of SLE patients in China is basically in line with that in the world (5-year survival rate reach 94%), but the long-term survival rate is still not optimistic, declining sharply, with a 25-30 year survival rate of only 30%. In China, 84.13% of SLE patients receive glucocorticoid(GC)therapy, while 42.6% SLE patients receive GC in the world. Infection is the leading cause of death for SLE patients in China, while in western countries, the main causes of death for SLE patients are cardiovascular disease and tumors With the proposal of new classification standards, the introduction of the concept of up-to-date treatment, as well as the use of new treatment methods, the development of SLE diagnosis and treatment will be greatly promoted, and it is expected to further improve the prognosis of patients in China.

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    The consensus on the diagnosis and treatment of elderly myelodysplastic neoplasm in China (2024)
    MDS Professional Committee of Hematology Branch of Chinese Geriatrics Society
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 285-296.   DOI: 10.16150/j.1671-2870.2024.03.006
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    Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid tumours originating from haematopoietic stem/progenitor cells, with a high prevalence in the elderly. Epidemiological surveys in Europe and the United States have revealed that the incidence of MDS is (4-5)/100 000, which increases with age,and the median age at diagnosis of MDS patients reaches 73-76 years. In Shanghai, China, according to the World Health Organization (WHO) 2008 diagnostic criteria, the average incidence rate was 1.51/100 000, and the median age of onset of MDS was found to be 62 years old in a survey conducted in 3.9 million people from 2004 to 2007, of which about one-third of the patients would be transformed into acute myeloid leukemia (AML), and 53% of the patients would die due to infections, haemorrhages, or comorbidities triggered by cytopenias. Elderly MDS patients have their own characteristics in terms of both treatment choices and disease prognosis due to more comorbidities and weaker health. Clinical characteristics of elderly MDS patients include slightly higher white blood cell count, haemoglobin level and more bone marrow blasts than those of young patients, while neutrophil count and platelet count are significantly higher than those of young patients; the number of mutations in elderly MDS patients is higher, with an average of 1.8 mutations per patient, among which the mutations in ASXL1, TET2, SF3B1, STAG2, SRSF2 and TP53 are more common; while the number of mutations in younger patients averages 1.2 per person, among which U2AF1, ASXL1 and RUNX1 mutations are more common. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is the only curative treatment for MDS, and myeloablative transplantation is feasible in young patients, but only reduced-intensity conditioning (RIC) allo-HSCT can be performed in elderly patients.The natural course and prognosis of elderly MDS patients varies considerably, and the MDS Composite Prognostic Score, which is composed of the composite age (>70 years old), vulnerability index, and IPSS prognostic subgroups, is able to better predict the tolerance of chemotherapy and adverse treatment effects in MDS patients. This consensus is based on the latest evidence-based data in the study of MDS in the elderly at home and abroad, and has been discussed by the experts of the group, which aims to standardise the diagnosis and the whole management of treatment for elderly MDS patients in China.

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    Interpretation of the 5th edition of the WHO classification of haematolymphoid tumours on MDS and AML
    YE Xiangjun, LU Xingguo
    Journal of Diagnostics Concepts & Practice    2023, 22 (05): 421-428.   DOI: 10.16150/j.1671-2870.2023.05.002
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    In 2022, the World Health Organization (WHO) proposed the 5th edition of the WHO Classification of Haematolymphoid Tumours (referred to as the 5th ed. WHO classification) based on the accumulated research results and clinical application progress in related fields after the revised 4th Edition of the WHO classification. Myelodysplastic neoplasms/syndrome (MDS) and acute myeloid leukemia (AML) in the 5th ed. edition of the WHO classification. In practice in WHO classification has major changes from the revised 4th, it is of great significance for clinical disease diagnosis and treatment, as well as disease registration and scientific research. This article is interpreted based on the fifth edition of the classification published in the journal Leukemia and online ahead of print version on the official website of the International Agency for Research on Cancer.

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    Correlation and influencing factors analysis of the cycle threshold value in detection of novel coronavirus nucleic acid(Omicron) and the negative conversion cycle in infected patients
    DING Ning, CHEN Shikai, MENG Jun, DAI Jing, JIN Peipei, et al
    Journal of Diagnostics Concepts & Practice    2022, 21 (02): 169-173.   DOI: 10.16150/j.1671-2870.2022.02.013
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    Objective: To explore the relationship between the cycle threshold (Ct) value of ORF1ab gene and N gene in the first admission detected by novel coronavirus (Omicron) nucleic acid and the negative conversion cycle of infected patients. Methods: 5 212 patients with novel coronavirus omicron variant infection were admitted to the Northern Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from March 2022 to April 2022 were collected, according to the patient′s previous history and the tests of relevant indexes after admission, including 2 746 cases in non-basic disease group and 2 466 cases in the basic disease group. All subjects received the Ct value of the ORF1ab genes and the N genes tests. Statistical analysis of the difference of the negative conversion cycle of ORF1ab gene and N gene between non-basic disease group and basic disease group under different Ct values at the first admission. Pearson linear correlation analysis was used to assess the association of Ct value of ORF1ab gene and N gene with the negative conversion cycle, and multiple linear regression was used to analyze the factors affecting the negative conversion cycle. Results: The Ct values of ORF1ab gene and N gene in patients novel coronavirus infection were negatively correlated with the negative conversion cycle (rORF1ab=-0.4622, P<0.01; rN=-0.5428, P<0.01). In the case of Ct value ≤20 and 20 <Ct value ≤30, there was a significant difference in the negative conversion cycle between the group with basic diseases and the group with non-basic disease, which the negative conversion cycle of the group with basic diseases was significantly higher than that of the group with non-basic disease (P<0.05); When the Ct value of the ORF1ab gene increases by one cycle, the negative conversion cycle is shortened by 0.21 days, and when the Ct value of the N gene increases by one cycle, the negative conversion cycle is shortened by 0.26 days, in addition, age and basic diseases are risk factors. Conclusions: The Ct values of ORF1ab gene and N gene in the first admission are related to the negative conversion cycle of patients with novel coronavirus (Omicron) infection, which can be used as an independent predictor of the negative conversion cycle of patients with novel coronavirus infection and have a certain value in guiding patients with novel coronavirus infection to reduce the frequency of nucleic acid detection and to assess disease progression.

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