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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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    Journal of Diagnostics Concepts & Practice    2021, 20 (04): 401-406.   DOI: 10.16150/j.1671-2870.2021.04.014
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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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    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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    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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    Detection rate of gastric polyps and its clinical characteristics in 36 857 subjects in Shanghai
    ZHOU Yufen, WONG Bokai, LUO Fangxiu, XU Ying, DING Yanfei, YUAN Xiaoqin, CHEN Ping, WU Yunlin
    Journal of Diagnostics Concepts & Practice    2020, 19 (04): 420-425.   DOI: 10.16150/j.1671-2870.2020.04.018
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    Objective: To explore the detection rate of gastric polyp (GP) in Shanghai and analyze its clinical characteristics. Methods: A total of 36 857 subjects undergone gastroscopy during December 2012 to May 2019 were enrolled, and the detection rate of GP and related pathologic data were analyzed. Results: It revealed that 3 858 patients had GP, with a detection rate of 10.47%. In patients over 60 years old, 1 534 patients were diagnosed as having GP, with a detection rate of 14.75%. Compared with patients in other age groups (<30, 30-39, 40-49, 50-59 years), the constituent ratio of patients with GP diameter ≥2.0 was higher(1.8%)(P<0.05), so was with adenomatous polyps (1.9%) and with intraepithelial neoplasia (2.9%)(P<0.05). The only three cases with high-grade intraepithelial neoplasia were all ≥60 years old. Besides, the constituent ratio of patients ≥60 years old with atrophic gastritis and with intestinal metaplasia were 22.4% and 34.0%, respectively,which were higher than those of patients <60 years old. In contrast, GP patients ≥60 years old had a lower constituent ratio of Helicobacter pylori infection (15.1%), lower than that of patients under 60 years old (P<0.01). Conclusions: In comparison with the population <60 years old, population ≥60 had a higher detection rate of GP. GP patients of ≥60 years old had higher proportion of polyps diameter greater than 2 cm, adenomatous polyps, intraepithelial neoplasia, atrophic gastritis, and intestinal metaplasia. Therefore, more attention should be paid to the detection and pathology examination of GP in elderly patients.

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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
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    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 of ERBB2 (HER2) mutation in the diagnosis and treatment of (NSCLC). The updated content was mainly focused on the detection of HER2 mutation as a standard biomarker and the treatment of patients with HER2 mutation. The detection of HER2 mutation is recommended for patients with metastatic NSCLC. Fam-trastuzumab deruxtecan and trastuzumab emtansine are recommended as second-line treatment options for patients with HER2 mutation. However, both are in clinical trials in China. The treatment strategies for NSCLC patients with HER2 mutations 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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    Interpretation of clinical practice guidelines for myelodysplastic syndrome (version 1, 2023) of National Comprehensive Cancer Nerwork(NCCN)
    SONG Luqian, CHANG Chunkang
    Journal of Diagnostics Concepts & Practice    2023, 22 (02): 116-120.   DOI: 10.16150/j.1671-2870.2023.02.002
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    Myelodysplastic syndrome (MDS) is a diverse and common group of myeloid malignant clonal diseases in the hematologic system, with different classification and grouping, clinical manifestations and natural course, and the iteration of different classification systems and versions in history, resulting distress in the correct diagnosis, classification and treatment options. The National Comprehensive Cancer Network (NCCN) released the first version (2023) of Clinical Practice Guidelines for MDS in September 2022. The guideline is based on the clinical practice and standards of high-level evidence and the latest research progress, and its attracts wide attention from clinicians worldwide. Currently, many clinicians in China have insufficient understanding of MDS, and there is still a certain gap with the international diagnosis and treatment level of MDS. This paper interprets the content of the new guidelines, and compares it with the previous guidelines, in order to provide a reference for the standardized diagnosis and treatment of MDS at the current stage in China.

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    New knowledge of prophylaxis and treatment about cancer-associated thrombosis
    DING Yongjie, ZHANG Liu, LI Qingyun
    Journal of Diagnostics Concepts & Practice    2023, 22 (04): 323-331.   DOI: 10.16150/j.1671-2870.2023.04.001
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    Cancer-associated thrombosis (CAT) is the second leading cause of death in cancer patients, second only to the progression of the tumor. It leads to extended hospitalization and re-hospitalization, resulting in a serious social medical burden. Tumor-specific gene mutations such as JAK2, ALK, and KRAS mutations are closely related to the risk of CAT in patients with solid tumors. Patients treated with immune checkpoint inhibitors have a high risk of CAT, with a 1-year cumulative incidence rate of 10.86%. Therefore, accurate risk assessment is important. The Khorana risk score (KRS) is the first model to assess CAT risk and has been validated in several studies. The new generation models are based on the improvement of KRS, but they have not yet undergone large-scale external verification, such as the Vienna CAT model, PROTECHT model, and CONKO model. Due to the strong correlation between tumors and CAT, several CAT-related prevention guidelines have been established domestically and abroad. All of these guidelines recommend that patients undergo preventive anticoagulation therapy after tumor surgery. Low molecular weight heparin (LMWH) is the most widely used anticoagulant drug to prevent CAT. New oral anticoagulants (NOAC) are also used to prevent CAT, despite the incidence of hemorrhaging increases, the overall benefits to patients outweigh the risks. The strategy for treating CAT is complex. For patients with non-gastrointestinal tumors, NOAC can be used as a first-line drug, while LMWH is recommended for anticoagulation in patients with gastrointestinal tumors. Since CAT patients receive anticoagulation and anti-tumor therapy at the same time, drug interactions need to be considered to avoid drug-induced bleeding, especially the impact of combined medication on NOAC pharmacokinetics. The ideal length of anticoagulation therapy for CAT remains unclear. Guidelines recommend that patients with CAT should indefinitely continue the anticoagulation therapy after completing 3 to 6 months of initial anticoagulation therapy. Therefore, when determining the course of anticoagulation therapy for cancer patients, physicians should evaluate the risk of recurrence of thrombosis and bleeding, and optimize the treatment plan.

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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
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    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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    Clinical characteristics and risk factor analysis of 118 patients with cerebral venous sinus thrombosis
    LI Lei, WU Xi, DAI Jing, WU Wenman, DING Qiulan, WANG Xuefeng
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 261-269.   DOI: 10.16150/j.1671-2870.2023.03.09
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    Objective: To analyze the clinical characteristics and thrombotic risk factors of cerebral venous sinus thrombosis (CVST) in Chinese population, in order to provide reference for the clinical diagnosis, prevention and treatment of CVST. Methods: A total of 118 CVST patients who visited the Thrombosis and Hemostasis Clinic of Ruijin Hospital from January in 2015 to December in 2022 were enrolled. The clinical data, imaging characteristics, and thrombotic gene panel were collected, and independent risk factors for thrombosis, recurrence, and multi-site thrombosis in CVST patients were studied through univariate and multivariate logistic regression. Results: Among 118 CVST patients, 88.1% (104/118) patients firstly developed CVST at age younger than 45 years old.It revealed that 57.6% patients (68/118) only suffered CVST once,and 33.1% patients (39/118) experienced thrombotic events at least twice, while 37.3% patients (44/118) suffered multi-site venous thromboembolism (VTE). The superior sagittal sinus was the most common venous sinus to form thrombosis (77/118), and multi-sites of venous sinus were involved simultaneously in 54.2% patients (64/118). The risk factor screening for thrombophilia showed that 70.3% patients (83/118) carried at least one thrombotic risk factor, including 53.3% patients (63/118) with inherited risk factors and 32.2% patients (38/118) with acquired risk factors. The main risk factors for males were anticoagulant protein deficiency (35/66) and antiphospholipid syndrome (5/66), while the risk factors for females mainly included anticoagulant protein deficiency (20/52), pregnancy/postpartum period (11/47), and contraceptive use (5/47). Among 35 patients with unknown risk factors, more than 30% of them experienced recurrent or multi-site thrombosis, and the underlying etiology in these patients still need to be further investigated. Univariate and multivariate logistic regression analysis showed that both inherited risk factors (odds ratio, OR=21.643, 95% confidence interval, CI 9.455-49.544, P<0.0001) and acquired risk factors (OR=10.836, 95% CI 4.306-27.270, P<0.0001) were independent risk factors for the occurrence of CVST. Genetic risk factor (OR=2.270, 95% CI 1.021-5.048, P=0.044) was an independent risk factor for recurrent thrombosis in CVST patients. Conclusions: In Chinese population, CVST is more common in middle-aged and young populations.,with 70.3% patients carrying at least one thrombotic risk factor. Genetic risk factors are the main cause of CVST in China and the detectable rate is 53.3%, which is significantly higher than that (22%) reported abroad. The patients with genetic risk factors have a significantly increased risk of developing CVST or recurrent thrombosis. Identification of thrombotic risk factors, prevention, diagnosis and treatment should be carried out earlier for individuals with high-risk CVST.

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    Journal of Diagnostics Concepts & Practice    2021, 20 (04): 349-355.   DOI: 10.16150/j.1671-2870.2021.04.004
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    Association between 24-h ambulatory blood pressure variability and cardiac structure and function
    XU Tingyan, YANG Yan, LI Jingjing, ZHANG Dongyan, WANG Ying, WANG Jiguang, LI Yan
    Journal of Diagnostics Concepts & Practice    2019, 18 (2): 193-198.   DOI: 10.16150/j.1671-2870.2019.02.014
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    Objective: To investigate the association between 24-h ambulatory blood pressure variability and cardiac structure and function in untreated patients. Methods: The association between 24-hour ambulatory blood pressure (BP) recordings and echocardiography in 80 untreated patients referred to a hypertension clinic was assessed. BP variability indices were standard deviation (SD), coefficient of variation (CV), variability independent of the mean (VIM), maximum-minimum difference (MMD), and average real variability (ARV). Effect sizes (standardized β)and partial coefficient of determination were computed using multivariable regression models. Results: Left ventricular mass index(LVMI) (systolic BP: β=6.8—8.0, P<0.01; diastolic BP: β=6.7—7.8, P<0.01), longitudinal strain(LS) (systolic BP: β=-0.76—-0.71, P<0.05; diastolic BP: β=-0.81—-0.71, P<0.05) and septal E/e' (systolic BP: β=0.44—0.57, P<0.05) were associated independently with BP, whereas the association with BP variability was not significant except for those of LVMI with systolic BP CV and VIM ( β=3.3, P=0.048, β=3.4, P=0.049), and of septal E/e' with diastolic BP MMD ( β=0.46, P=0.034). Conclusion: Short-term 24-h blood pressure variability is associated with cardiac structure and function, but blood pressure might be a major factor affecting these cardiac indices.

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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
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    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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    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
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    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 guidelines for the diagnosis and treatment of primary osteoporosis (2022 version) in China: essential introduction
    ZHANG Zhenlin, YUE Hua, LI Mei, XIA Weibo
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 230-233.   DOI: 10.16150/j.1671-2870.2023.03.04
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    China is now witnessing an accelerated aging process,and active reaction is an important issue that we are facing. Osteoporosis and the resulting fractures are particularly noteworthy. In order to further standardize the diagnosis and treatment of primary osteoporosis, the Osteoporosis and Bone Mineral Disease Branch of the Chinese Medical Association has developed and released the “Guidelines for the Diagnosis and Treatment of Primary Osteoporosis (2022 Version)” based on the epidemiological characteristics and pathogenesis of the Chinese population, which combined high-quality medical research evidence from both domestic and foreign sources. Based on evidence-based medicine evidence, and clinical practice in China, this article will focus on the interpretation of two key clinical issues in the new version of the guidelines, namely “fracture risk stratification and treatment selection” and “treatment course of anti-osteoporosis drugs”. Regarding the risk of fractures, this guideline divides it into high and extremely high fracture risks, cancels the classification of low and medium risks, and for one of the extremely high fracture risk indicators “recent brittle fractures”,defines “recent” as “24 months”.Given that the FRAX model underestimates the fracture risk of Chinese patients, it is proposed to develop a highly operational fracture risk stratification criteria in clinical practice. Regarding drug treatment, patients who use bisphosphonates should be fully evaluated before entering the medication holiday, and regular follow-up is still required. Although the Food and Drug Administration (FDA) of the United States has lifted the warning of osteosarcoma and 24- month treatment limit for terlipide, the user manual of the drug in China still suggests a treatment period of 24 months. This guideline is based on high-quality evidence-based medical evidence both domestically and internationally, and may provide reference and research directions for clinical practice.

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    Interpretation of the Clinical Practice Guidelines for Lung Cancer Screening (version 2) of 2022 National Comprehensive Cancer Network(NCCN)
    YANG Wenjie, YAN Fuhua
    Journal of Diagnostics Concepts & Practice    2023, 22 (01): 14-20.   DOI: 10.16150/j.1671-2870.2023.01.003
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    The National Comprehensive Cancer Network (NCCN) updated the Clinical Practice Guidelines for Lung Cancer Screening (version 2. 2022). In this version, only two factors, age and smoking history, are used to stratify people into high and low risk groups. Individuals aged ≥50 years with a smoking history ≥20 pack per year are at high risk for lung cancer. Low-dose CT (LDCT) screening is recommended for high-risk individuals. The NCCN guidelines are based on the data of randomized trials conducted in the North American population, whose lung cancer disease spectrum differs from that of the Chinese population in terms of disease characteristics and risk factors. Therefore, Chinese physicians should refer to the 2022 NCCN guidelines combined with the characteristics of the Chinese population in clinical practice. In China, individuals are at high risk for lung cancer if they are aged 50-75 years with at least one additional risk factor (≥20 pack/year smoking history, secondhand smoke exposure, occupational exposure, cancer history or family history of lung cancer, disease history of COPD or pulmonary fibrosis). The benefits of lung cancer screening include decreasing lung cancer mortality, improving life quality, and detecting other hidden health risks (breast cancer, thyroid nodules, asymptomatic coronary artery disease, aortic aneurysms, etc). The use of lung nodule risk calculators by multidisciplinary teams with expertise in thoracic radiology, pulmonary medicine, and thoracic surgery for risk assessment is recommended. The disadvantages of lung cancer screening include over-screening or even ineffective screening for indolent lesions, and ineffective screening for small invasive tumors. It suggests that Chinese physicians need to consider the actual situation, weigh the pros and cons, and seek optimal decision-making.

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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    2021, 20 (01): 48-52.   DOI: 10.16150/j.1671-2870.2021.01.007
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    Current status and considerations on the diagnosis and treatment of pemphigus in China
    PAN Meng, WANG Jingying
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 209-214.   DOI: 10.16150/j.1671-2870.2023.03.01
    Abstract483)   HTML12)    PDF(pc) (918KB)(1057)       Save

    Pemphigus is a rare autoimmune bullous disease with chronic and high rates of relapse. The diagnosis of pemphigus in China has following problems: first, the difficulty of early diagnosis commonly causes missed diagnosis or misdiagnosis with eczema, seborrheic dermatitis, behcet disease, ect. Patients are diagnosed clearly only after several months or years. Second, patients’ cognitive dificiency of pemphigus. Shortage of education on pemphigus patients, low acceptance and obedience and self-reduction or-withdrawal of drug causing common relapse and low sensitivity and increasing adverse reactions in retreatment. Thrid, lack of management of doctors in adverse reaction treatment. Some primary hospitals still have the overdosage of hormone to disease control and nonstandard drug combination as the primary treatment of pemphigus. In January 2020, the Dermatology Branch of China Association for the Promotion of International Exchanges in Healthcare has released Expert Recommendations on the Diagnosis and Treatment of Pemphigus Vlgaris (2020) and update the diagnosis standard of pemphigus in China. In April 2021, the China Autoimmune Bullous Disease Collaboration Network was officially established to promote the further update of pemphigus diagnosis and treatment with multi-center and multidisciplinary collaborative research. “Early diagnosis, timely treatment, careful nursing, long-term follow-up” is the principle of pemphigus diagnosis and treatment. This article concludes the situation of pemphigus in China, compares differences between home and abroad in diagnosis and treatment of pemphigus and triggers thoughts of future development.

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