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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
    Abstract25632 HTML2014 PDF(pc)(3637KB)( 31546 Save

    With the sustained growth of economy and significant changes in social demographics, the issue of elderly-related diseases has increasingly drawn particular attention. Alzheimer's disease (AD),as a representative 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 have increased 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 heightened social 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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    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
    Abstract8693 HTML336 PDF(pc)(2270KB)( 8462 Save

    In 2022, the World Stroke Organization released two new reports regarding global stroke statistics in theInternational 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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    Trends in global major disease burden and health conditions—interpretation of the Global Burden of Disease Study 1990-2021
    FAN Bonan, LI Yan
    Journal of Diagnostics Concepts & Practice 2024, 23 (05): 474-483. DOI:10.16150/j.1671-2870.2024.05.003
    Abstract4842 HTML145 PDF(pc)(3009KB)( 7497 Save

    The Global Burden of Disease Study 2021 (GBD 2021) analyzed 371 diseases and injuries using 100,983 data sources, estimating years lived with disability, years of life lost, disability-adjusted life years, and healthy life expectancy. From 1990 to 2019, the annual rate of change in global all-cause mortality ranged from -0.9% to 2.4%, while deaths increased by 10.8% and 7.5% in 2020 and 2021 respectively due to COVID-19. In 2021, COVID-19 was the second lea-ding cause of death globally, with a mortality rate of 94.0 per 100 000. The mortality rates of other major causes, such as ischemic heart disease and stroke were 108.7 and 87.4 per 100 000, respectively. Global life expectancy rose from 65.5 years in 1990 to 73.3 years in 2019 but dropped to 71.7 years in 2021 due to COVID-19, which reduced life expectancy by 2.2 years, significantly impacting the trend of health improvement. In China, GBD 2021 data shows a significant increase in life expectancy from 1990 to 2021: from 69.9 to 80.7 years for women and from 65.7 to 74.9 years for men. However, non-communicable diseases such as cardiovascular diseases, cancers, and chronic respiratory diseases remain major health threats. In 2021, these diseases had the highest burden among the top ten causes in China, with rising incidence and morta-lity rates. Major health risk factors in China include tobacco, hypertension, and dietary risks. This paper, through the systematic analysis of GBD 2021 data, reveals current trends in disease burden globally and in China, and proposes public health strategy recommendations. China should enhance chronic disease management, improve public health emergency responses, address health inequalities, and promote basic research and international cooperation to improve overall health levels.

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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
    Abstract4738 HTML123 PDF(pc)(945KB)( 7302 Save

    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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    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
    Abstract4589 HTML143 PDF(pc)(1494KB)( 6734 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 theF8gene of patients in China are similar to those reported in international data, and the mutations in theF9gene 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
    Abstract3986 HTML23 PDF(pc)(904KB)( 1807 Save

    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 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
    Abstract3209 HTML124 PDF(pc)(1392KB)( 6170 Save

    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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    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
    Abstract3206 HTML116 PDF(pc)(1106KB)( 7310 Save

    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 inASXL1, TET2, SF3B1, STAG2, SRSF2andTP53are more common; while the number of mutations in younger patients averages 1.2 per person, among whichU2AF1, ASXL1 and RUNX1mutations 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 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
    Abstract3069 HTML85 PDF(pc)(1042KB)( 8085 Save

    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
    Abstract2994 HTML71 PDF(pc)(946KB)( 5839 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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    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
    Abstract2923 HTML68 PDF(pc)(923KB)( 1871 Save

    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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    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
    Abstract2751 HTML62 PDF(pc)(1585KB)( 3102 Save

    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), withStaphylococcus aureuscausing 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, whileStreptococcus pneumoniaecauses over 750 000 deaths worldwide; Klebsiella pneumoniae causes over 750 000 deaths worldwide;Pseudomonas aeruginosahas 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 aureusis 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 pneumoniaeis 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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    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
    Abstract2564 HTML51 PDF(pc)(1010KB)( 6579 Save

    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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    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
    Abstract2538 HTML63 PDF(pc)(1105KB)( 7300 Save

    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 thetuberculosis(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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    Advances in current research on the immunopathogenesis of Sjögren’s syndrome and targeted therapeutic strategies
    YUAN Xiang, LI Xiaomei
    Journal of Diagnostics Concepts & Practice 2024, 23 (03): 278-284. DOI:10.16150/j.1671-2870.2024.03.005
    Abstract2044 HTML35 PDF(pc)(960KB)( 1343 Save

    Sjögren's syndrome (SS) is a prevalent systemic autoimmune disease, primarily affecting exocrine glands, characterized by lymphocyte and plasma cell infiltration. Patients typically exhibit dry mouth and eyes, with potential involvement of the digestive tract, lungs, and kidneys. In China, SS prevalence ranges from 0.29% to 0.77%, rising to 3.00%-4.00% among the elderly. In Europe, the prevalence is approximately 0.23%. The pathogenesis of SS involves interactions of multiple cells and cytokines, including salivary gland epithelial cells, T-cells, B-cells, dendritic cells, interferon (IFN), interleukin (IL), tumour necrosis factor (TNF) and inflammasomes. Currently, glandular therapy for SS is primarily localised, while treatment for systemic involvement is mainly borrowed from other autoimmune diseases, with no approved targeted drugs yet. Among the targeted therapeutic agents for SS, rituximab, a B-cell targeted therapy, is the most studied and has shown improved salivary efficacy in SS patients with cryoglobulin vasculitis. BAFF inhibitors, CD40 targeting agents, and mesenchymal stem cells have also demonstrated cartain therapeutic effects. For most systemic involvement, glucocorticoids (GCs) are the first-line treatment, while immunosuppressants and biologics serve as second-line options for GCs-tolerant or resistant patients. Although many potential therapeutic targets have been identified, few drugs have been clinically translated. Currently, there is a need to develop relatively safe and effective treatment regimens with minimal adverse effects through comprehensive patient assessment and multidisciplinary collaboration. Future SS drug research will focus on targeted therapies, adverse effects reduction, and multi-drug combinations.

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    Interpretation of the Clinical Practice Guidelines for Non-small Lung Cancer (version 4 and version 5) of 2022 National Comprehensive Cancer Nerwork(NCCN)
    CHEN Guoqun, CAI Jiaodi
    Journal of Diagnostics Concepts & Practice 2023, 22 (01): 8-13. DOI:10.16150/j.1671-2870.2023.01.002
    Abstract1981 HTML42 PDF(pc)(900KB)( 4161 Save

    Lung cancer is the leading cause of cancer-related deaths worldwide, with approximately 1.8 million patients dying of lung cancer each year, accounting for 18.0% of all cancer deaths. Non-small cell lung cancer (NSCLC) is the main type of lung cancer and accounts for more than 85% of all lung cancer patients. In China, more than 700 000 new cases of lung cancer are diagnosed each year, and more than 600 000 patients die of lung cancer, accounting for 21.7% of all cancer deaths. In 2022, the National Comprehensive Cancer Network (NCCN) updated the guidelines for clinical diagnosis and treatment of lung cancer. Compared with the third edition of the guidelines, the fourth edition of the guidelines added the reference significance ofERBB2(HER2) mutation in the diagnosis and treatment of (NSCLC). The updated content was mainly focused on the detection ofHER2mutation as a standard biomarker and the treatment of patients withHER2mutation. The detection ofHER2mutation is recommended for patients with metastatic NSCLC. Fam-trastuzumab deruxtecan and trastuzumab emtansine are recommended as second-line treatment options for patients withHER2mutation. However, both are in clinical trials in China. The treatment strategies for NSCLC patients withHER2mutations need to be considered comprehensively in light of the actual situation, and more data from domestic trials are needed. The fifth edition of the guidelines expanded the use of nivolumab, marking new progress in the study of immune checkpoint inhibitors.

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    Expert consensus on neuroimaging diagnosis of dementia and cognitive impairment (2023)
    Aging and Cognitive Impairment Branch of Shanghai Society of Aging and Degenerative Diseases
    Journal of Diagnostics Concepts & Practice 2024, 23 (01): 30-39. DOI:10.16150/j.1671-2870.2024.01.005
    Abstract1835 HTML29 PDF(pc)(9441KB)( 5160 Save

    For patients with cognitive impairment as the main clinical manifestation, structural MRI (or CT instead) should be performed first to clarify intracranial lesions and brain atrophy. For patients with specific clinical manifestations, specific MRI sequences is recommended to further assist diagnosis. If the patient is suspected of AD, it is recommended to perform oblique coronal T1WI for MTA grading to score medial temporal lobe atrophy. If the patient is suspected to be caused by vascular factors or special infections (prion proteins), it is recommended to perform diffusion-weighted imaging. If the patient has extrapyramidal symptoms or small vessel disease, especially cerebral amyloid angiopathy or cognitive impairment complicated by diabetes, it is recommended to perform susceptibility-weighted imaging. If a mass is suspicious on MRI, contrast-enhanced MR imaging and MR spectroscopy should be performed. If the patient has amyotrophic lateral sclerosis, it is recommended to perform diffusion tensor imaging. If the patient is suspected to be caused by neurodegenerative diseases, it is recommended to perform18F-FDG PET and Aβ-PET or tau-PET. Aβ-PET imaging and tau-PET imaging can visualize the degree and scope of pathological protein deposition in the brain, which has important predictive and diagnostic value for dementia and can be used for the differential diagnosis of dementia and staging the disease progression. In addition, resting-state functional magnetic resonance imaging, near-infrared spectroscopy, and some emerging imaging techniques such as cine phase-contrast magnetic resonance imaging, and diffusion tensor image analysis along the perivascular space have been studied in patients with cognitive impairment. It is expected that these technologies can be used in the future to better assist the diagnosis and differential diagnosis of cognitive impairment. It should be noted that neuroimaging does not represent the complete diagnosis and clinical symptoms of the disease and must be interpreted with caution.

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    Advances in study on diagnosis and treatment of immune-mediated necrotizing myopathy
    LIU Hongjiang, XIE Qibing
    Journal of Diagnostics Concepts & Practice 2024, 23 (03): 270-277. DOI:10.16150/j.1671-2870.2024.03.004
    Abstract1828 HTML30 PDF(pc)(935KB)( 2213 Save

    Immune-mediated necrotizing myopathy (IMNM) is a significant, subtype of idiopathic inflammatory myopathy(IIM), characterized by symmetrical proximal limb muscle weakness and markedly elevated serum creatine kinase levels. Some patients may also exhibit extra-skeletal muscle manifestations, including rashes, interstitial lung disease, and myocardial involvement. Since its international nomenclature in 2003, IMNM has gained increasing recognition among researchers and clinicians, leading to numerous scientific investigations and clinical applications. The incidence and prevalence of IMNM can vary across different geographic regions and ethnic groups. A small sample survey conducted in the United States reported an incidence of 0.83 per 100,000 and a prevalence of 1.85 per 100,000. In northern Spain, among patients positive for anti-HMGCR antibodies, the incidence was found to be 0.6 per 100,000, with a prevalence of 3 per 100,000. However, there is a notable paucity of relevant data regarding IMNM in China. Identified risk factors for IMNM include susceptibility alleles (e.g., HLA-DRB1*11), the use of statins or immune checkpoint inhibitors, and viral infections. Diagnosing IMNM requires a comprehensive evaluation that includes assessing muscle involvement symptoms, identifying myositis-specific autoantibodies, measuring creatine kinase levels, analyzing muscle biopsy pathology, and conducting related examinations. Currently, there is a lack of prospective randomized controlled studies on the treatment of IMNM. In clinical practice, glucocorticoids and traditional immunosuppressants are primarily employed on an empirical basis. For refractory cases, treatment regimens may involve rituximab and intravenous human immunoglobulin. Therapeutic strategies targeting B cells and the mechanisms underlying pathogenic autoantibody production may offer promising avenues for future treatment. This article systematically reviews the clinical characteristics, diagnostic criteria, relevant auxiliary examinations, and treatment strategies for IMNM, aiming to provide a comprehensive reference for clinicians in understanding, diagnosing, and managing this condition.

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    Analysis and interpretation of the 2022 Global Cancer Statistics Report: cancer burden and epidemiological trends in China and the world
    WU Qi, FAN Bonan, LI Yan
    Journal of Diagnostics Concepts & Practice 2025, 24 (02): 135-145. DOI:10.16150/j.1671-2870.2025.02.004
    Abstract1731 HTML67 PDF(pc)(1203KB)( 1476 Save

    In February 2024, the International Agency for Research on Cancer (IARC) released the 2022 Global Cancer Statistics Report. In 2022, there were nearly 20 million new cancer cases and 9.7 million deaths. The report provides statistics on the incidence and mortality of 36 different types of cancer in 185 countries around the world, analyzing geographic, gender-based, and Human Development Index (HDI)-related differences. It also predicts the global burden of cancer disease by 2050. Demographic forecasts suggest that by 2050, the number of new cancer cases worldwide is expected to reach 35 million annually-an increase of 77% compared to 2022. Geographically, cancer incidence and mortality rates show significant regional disparities. In 2022, nearly half (49.2%) of the world's new cases and the majority (56.1%) of cancer deaths occurred in Asia. In terms of gender distribution, the overall cancer incidence and mortality rate among females were lower than those among males in 2022. With respect to HDI, the risk of developing cancer increases with higher HDI levels. In 2022, the top 5 newly diagnosed cancer cases worldwide are lung cancer, female breast cancer cancer, colorectal cancer, prostate cancer, gastric cancer in turn. There were nearly 2.5 million new lung cancer cases and over 1.8 million related deaths. Breast cancer in women accounted for 2.3 million new cases and nearly 670 000 deaths. Colorectal cancer, including anal cancer, had more than 1.9 million new cases and over 900 000 deaths. Prostate cancer recorded 1.5 million new cases and nearly 400 000 deaths. There were nearly 970 000 newly-diagnosed cases of gastric cancer and 660 000 related deaths. In China in 2022, lung cancer still ranks first in the cancer incidence spectrum in China, accounting for 22.0% of the total new cases of cancer in China. This proportion has further increased compared to 2018 data (17.9%), followed by colorectal cancer (10.7%), thyroid cancer (9.7%), liver cancer (7.6%), and gastric cancer (7.4%), which account for more than half of the total new cases in China (57.4%). This paper reviews the data sources and statistical methods used in the report, interprets the epidemiological trends of major cancer types, and analyzes the incidence and burden of major cancers prevalent in China, provi-ding an overview of their disease burden and epidemiological trends.

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    Psoriasis comorbidity: prevalence, diagnosis and treatment
    SHI Yuling, CHEN Wenjuan
    Journal of Diagnostics Concepts & Practice 2023, 22 (03): 221-229. DOI:10.16150/j.1671-2870.2023.03.03
    Abstract1557 HTML25 PDF(pc)(1039KB)( 2706 Save

    The global incidence of psoriasis is about 1%-3%, and in China is about 0.47%. It is reported that 57.9% of psoriasis patients have at least one psoriasis comorbidity, which not only affects the progression and severity of psoriasis, but also affects the treatment choice and therapeutic effect for patients. Psoriatic arthritis is the most common comorbidity, with the prevalence of 6% to 42% in the world, of approximately 14% in Asia,and of about 4.9% in Chinese population. Psoriasis is one of the risk factors for cardiovascular disease and is an independent risk factor for myocardial infarction. Compared with non-psoriasis patients, psoriasis patients have an higher prevalence of metabolic diseases.The risk of diabetes in psoriasis patients increases by 0.69 times.The risk of obesity increases by 0.46 times in mild psoriasis patients and by 1.23 times in moderate to severe psoriasis patients. In addition, the prevalence of depression in psoriasis patients increases by 0.5 times, and the risk of autoimmune diseases is also higher. For treatment of psoriasis and psoriasis comorbidities, systemic anti-inflammatory treatment can not only relieve or eliminate skin inflammation, but also alleviate the occurrence, progression or severity of psoriasis comorbidities. The treatment principle of psoriasis comorbidities should take the condition of the patient’s psoriasis into consideration, and should also depend on the type of comorbidity, the risk of worsening of comorbidity, etc. Multidisciplinary collaboration is the trend in the diagnosis and treatment of psoriasis and its comorbidities. The cross-disciplinary cooperation between dermatologists and specialists matters a lot.

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