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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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    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
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    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 perform 18F-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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    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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    Clinical research on progress of antinuclear antibody in rheumatoid arthritis
    LI Yuan, ZHANG Le, YIN Hanlin, ZHENG Bing, LÜ Liangjing
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 579-586.   DOI: 10.16150/j.1671-2870.2023.06.011
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    Rheumatoid arthritis (RA) is a common chronic, systemic autoimmune disease characterized by erosive arthritis, with a global prevalence of 0.25% to 1.00%, which may ultimately lead to joint deformity and loss of function. Antinuclear antibody (ANA) refers to auto-antibodies that target various components of eukaryotic cells. Although ANA may be frequently detected in RA patients, with a positive rate of 30% to 60%, the significance of ANA in the diagnosis and treatment of RA remains unclear. Nuclear patterns in RA population are dominated by speckled and homogeneous patterns, mainly at low titres. The detection rate of extractable nuclear antibodies is usually lower than that of ANA. The serum levels of rheumatoid factor and anti-cyclic citrullinated peptide antibody in ANA-positive RA patients are much higher than ANA-negative ones, and joint erosion of ANA-positive RA patients had more severe joint erosion on imaging as well. Therefore, ANA is a potential predictor of severe joint injury. ANA-positive RA patients are more likely to have extra-articular manifestations [such as subcutaneous nodules(82% vs 46%), ocular lesions(38% vs 6%), and infections(38% vs 12%)].In terms of RA comorbidities, compared to the ANA negative group, the ANA positive group had higher levels of moderate and severe anemia (16.04% vs 6.9%; 6.6% vs 0.07%), Sjogren's syndrome (19.5% vs 4.1%), and vasculitis (29% vs 7%). In addition, ANA positivity is an independent risk factor for elderly RA patients with carotid intimal thickening (HR=4.089) and adverse pregnancy outcomes in female RA (OR=3.268, P=0.045), respectively. Attention should be paid to high-titre ANA-positive RA patients for preventive measures. In terms of treatment, RA patients who are ANA-positive when given tumour necrosis factor-α inhibitor (TNFi) treatment got much poorer therapeutic response than ANA-negative ones, especially those with high titres were more prone to generating anti-drug antibodies. Increase of ANA titer induced by TNFi is associated with no response to TNFi treatment, thus monitoring the change of ANA may predict the long-term efficacy of TNFi. The most common adverse event of TNFi is drug-induced lupus. Although it has been confirmed that the induction of anti-double-stranded DNA antibodies is associated with poor efficacy of TNFi, large-scale studies are still needed to confirm the correlation between the increase of ANA titer or ocurence of dsDNA antibody and the induction of drug-induced lupus. In conclusion, this paper reviews the research progress on ANA characteristics in RA population, clinical manifestations of ANA-positive RA, and the association between ANA and TNFi prognosis. The potential of ANA as a new biomarker of RA needs to be further studied.

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    Advances in interventional magnetic resonance imaging and its clinical applications
    FENG Yuan, HE Zhao, SUN Qingfang, SUN Bomin, YAN Fuhua, YANG Guangzhong
    Journal of Diagnostics Concepts & Practice    2024, 23 (02): 108-113.   DOI: 10.16150/j.1671-2870.2024.02.002
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    Interventional therapy has been widely used in surgeries involving neurology, vasculature, and breasts.Image-guided, robot-assisted interventional therapy significantly enhances surgical precision and safety, emerging as a critical trend in modern interventional surgery. Among various interventional imaging methods, interventional magnetic resonance imaging (i-MRI) stands out due to its excellent soft tissue differentiation, diverse imaging contrasts, ability to yield quantitative data, and no ionizing radiation. However, the challenges facing MRI-guided therapy include the relatively low speed of imaging and the stringent compatibility demands of interventional devices. Advance in the rapid i-MRI techniques and MR-compatible equipment have propelled i-MRI to a pivotal role in clinical applications, encompassing neurological, cardiovascular, prostate, and breast interventions. This review initially provides an overview of the current i-MRI landscape. It then consolidates the application of i-MRI in multiple medical interventions, offering illustrative examples. The article further delves into the obstacles posed by i-MRI, specifically slow imaging speed and the delicate spatiotemporal resolution balance. Ultimately, it envisages the growth potential of i-MRI in multimodal imaging, real-time MRI, and i-MRI-guided interventional robotic surgery.

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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
    Abstract197)   HTML9)    PDF(pc) (945KB)(90)       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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    Advances in molecular pathology of Ewing sarcoma
    LIU Hengan, WANG Chaofu
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 587-592.   DOI: 10.16150/j.1671-2870.2023.06.012
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    Ewing sarcoma is a rare malignant small round cell mesenchymal neoplasm with a characteristic FET family-ETS family fusion gene, and is classified as undifferentiated small round cell sarcoma in the fifth revision of the WHO Classification of Tumors of Soft Tissue and Bone (2020). Microscopically, Ewing sarcoma is composed of a monomorphic round cell population, accompanied by different degrees of neuroectodermal differentiation. Although surgery combined with chemotherapy has increased the 5-year survival rate of Ewing sarcoma to about 70%, the 5-year survival rate of patients with metastases at diagnosis is still less than 30%. With the rapid development of molecular pathology, the molecular mechanism of Ewing sarcoma has also become a focus of research. This article reviews the latest research progress on the unique pathological features, molecular mechanisms and genetic diagnostic criteria of Ewing sarcoma, in order to provide a new direction for the clinical diagnosis, treatment and prognosis of Ewing sarcoma.

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    Interpretation of the “2022 World Hemophilia Annual Report” by the World Federation of Hemophilia
    ZHU Lijun, ZHENG Changcheng
    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 40-45.   DOI: 10.16150/j.1671-2870.2024.01.006
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    The World Federation of Hemophilia (WFH) released its new Annual Global Survey (AGS) in October 2022. The report sets goals for diagnosis and treatment of hereditary bleeding disorders, including a 25% increase in the diagnosis rate of hemophilia and a 14% increase in the diagnosis rate of von Willebrand disease (vWD) patient by 2025. It also aims to provide appropriate care and treatment particularly by increasing the rate of prophylactic treatment for severe hemophilia patients under the age of 18 by 25%, and continuing to provide humanitarian aid to at least 20 000 patients annually through the WFH. The AGS 2022 estimates the annual average prevalence of hemophilia worldwide, with hemophilia A (HA) at 17.1 per 100 000 males, including severe HA at 6.0 per 100 000 males; and hemophilia B (HB) at 3.8 per 100 000 males, including severe HB at 1.1 per 100 000 males. Based on the world population (7.9 billion, with 4 billion males), it is estimated that the global prevalence of hemophilia is around 10.6 per 100 000, with a total of 830 895 individuals with hemophilia worldwide, of which approximately 282 266 are severe cases. The prevalence rate of hemophilia in China is between 2.73 and 3.09 per 100 000, which is lower than that of the global average. It is indicated in the report that there are 11 700 female hemophilia patients, accounting for 5% of the total number of hemophilia patients; and there are 54 066 female vWD patients, accounting for 56% of the total vWD population, and 34 370 cases of other bleeding disorders in females, highlighting that vWD is the most common bleeding disorder among women. In China, there are a total of 27 689 patients with HA, with the age distribution as follows: 4% aged 0-4 years, 21% aged 5-13 years, 12% aged 14-18 years, 43% aged 19-44 years, 16% aged 45 and above, and 4% with an uncertain age. Compared with low-income countries, high-income countries have a higher diagnosis rate for mild hemophilia and fewer patients with uncertain diagnosis. Patients with hemophilia in low-income countries are at a significant risk of early death. The use of emicizumab for prophylactic treatment in economically developed regions is significantly higher than that in China. There is still a considerable gap between China and European and American countries in the diagnosis and treatment of hemophilia and other bleeding disorders. It is necessary for clinical professionals in China to enhance their understanding of hemophilia and other bleeding disorders and to continuously improve diagnosis and treatment capabilities.

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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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    Advances in research on the risk factors and pathogenesis of connective tissue disease-associated interstitial lung disease
    SHAO Xinlin, ZHU Xuemei, CAO Hua
    Journal of Diagnostics Concepts & Practice    2024, 23 (02): 202-209.   DOI: 10.16150/j.1671-2870.2024.02.015
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    Connective tissue disease-associated interstitial lung disease (CTD-ILD) is a group of lung diseases caused by connective tissue diseases, with an incidence ranging from 10% to 50% and a mortality rate as high as 20%. The clinical manifestations and imaging features are heterogeneous. However, its pathogenesis is not fully understood. Exploring the risk factors and pathogenesis is crucial for the diagnosis, treatment and prognosis management of CTD-ILD. The risk factors for CTD-ILD are diverse. Firstly,genetic factors play an important role in pathogenesis. Mutation rate of telomere-related genes (including TERT, RTEL1, PARN, and SFTPC) in CTD-ILD patients is three times as high as that of general population. The risk of developing CTD-ILD in patients with the mutation in MUC5B promoter is more than twice that of normal people. The mutations in the TOLLIP and HLA-DRB1 are also associated with increased disease susceptibility. In addition, medications used to treat CTD may also increase the risk of developing ILD. Approximately one-third of CTD-ILD patients also suffer from gastroesophageal reflux disease. Chronic smoking and exposure to air pollution may also increase the incidence of CTD-ILD. CTD-ILD patients with infections have a higher risk of severe outcomes (OR 1.34-2.73) and increased mortality risk (OR 1.2-4.3). The pathogenesis of CTD-ILD involves the abnormality of the immune system, which is mainly manifested in the production of autoantibodies (such as systemic sclerosis-related antibodies and myositis-specific antibodies), the dysfunction of immune cells (such as neutrophils, natural killer cells, Th2 and Th17) and the extensive release of cytokines (such as TNF-α, TGF-β, IL-6 and IL-8), which exist in more than 50% of CTD-ILD patients. The risk factors and pathogenesis of CTD-ILD are complex. Risk prediction model based on these factors may help identify high-risk individuals accurately, which can provide new strategies for the prevention and treatment of the disease, improve the long-term prognosis of patients.

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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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    Current status, challenges and future directions for hepatocellular carcinoma surveillance in China
    JIANG Shaowen, ZHOU Huijuan, XIE Qing
    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 9-15.   DOI: 10.16150/j.1671-2870.2024.01.002
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    In 2020, primary liver cancer ranked as the sixth most common malignancy worldwide, with 905 700 newly-diagnosed cases, and 830 000 deaths with an overall mortality rate of 8.7/100 000, ranking third in in malignant tumors. In Asia, there were 657 000 newly-diagnosed cases and 609 000 deaths, accounting for 72.5% and 73.3% of the global burden, respectively. In China, primary liver cancer is one of the most common malignant tumors, with 410 000 new cases, and 391000 deaths with a mortality rate of 17.2/100 000, ranking the second highest among the causes of cancer deaths. Approximately half of annual global newly-diagnosed cases and deaths of liver cancer occurred in China, leading to an extremely heavy disease burden. Hepatocellular carcinoma (HCC) accounts for 75%-85% of primary liver cancer. The 5-year survival rate of HCC patients is merely 14.1% in China, mainly due to advanced disease stage at the diagnosis in most HCC patients. The low rate of diagnosis of early-stage HCC is one of the most important reasons for the poor treatment outcome of HCC patients. The key to improving the diagnosis of early-stage HCC lies on the effective HCC surveillance. The current surveillance method of “abdominal ultrasound + alpha-fetoprotein” is far from meeting the clinical needs in detecting early-stage HCC, which is faced with many problems, including low implementation rates of HCC screening, poor sensitivity for early-stage HCC, and new challenges posed by profound changes in the underlying etiologies of hepatocellular carcinoma in the past decade. In order to optimize the efficacy of HCC surveillance and improve the prognosis of HCC patients, we must adopt effective strategies, raise the implementation rate of HCC surveillance from the perspectives of patients and healthcare professionals, develope new HCC surveillance tools of higher accuracy and with more convenience, [GALAD(gender, age, AFP-L3, DCP, AFP) score and liquid biopsy]; advocating “individualized” surveillance strategies, stratified enrichment and precise screening to maximize the cost-effectiveness of healthcare resources. As one innovative model for individualized HCC surveillance, “artificial intelligence” in closed-loop precise liver disease management may serve as a strategic choice for disease management in China.

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    Advances in the study on Ang/Tie signaling pathway in diagnosis and treatment of sepsis
    YANG Hang, DAI Jing, WANG Xuefeng
    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 90-95.   DOI: 10.16150/j.1671-2870.2024.01.012
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    Sepsis and concomitant multiorgan dysfunction are a group of common clinical syndromes, and their prevalence are increasing year by year due to the increase of the aging population. It reveals that 20 million cases of sepsis occur globally every year, with a mortality rate of 26%. Early diagnosis of sepsis facilitates the adoption of timely and targeted therapeutic strategies, which is a key element in reducing mortality. Endothelial cells (EC) are the early targets of exogenous pathogens and endogenous injury signals, and numerous studies suggest that structural changes and functional activation of EC play an important role in the development of sepsis. As an endothelial-exclusive signaling pathway, the angiopoietin (Ang)/tyrosine kinase receptor (Tie) signaling pathway plays an important role in the abnormal activation and injury of EC, and plays a central role in the regulation of dysfunctional changes in the disease process. The Ang/Tie signaling pathway mainly includes two tyrosine kinase receptors (Tie1, Tie2) located in EC and four secreted glycoprotein ligands (Ang-1, Ang-2, Ang-3, Ang-4). Ang-1 sustainably activates the Tie2 receptor, maintaining function between cells, and between cell and matrix, supporting the normal physiological functions of vascular EC. Ang-2 is an Ang-1 antagonist, competitively blocking the binding of Ang-1 to the Tie2 receptor. In a sepsis environment, the ratio of Ang-1/Ang-2 decreases (Ang-1 decreases, while Ang-2 increases). Ang-2 competitively blocks the binding of Ang-1 to Tie2 receptors, resulting in severe abnormal activation of EC. Ang-2 mediates the release of heparinase (HPSE), resulting in glycocalyx damage and an increase of vascular permeability. Ang-2 increase may promote inflammatory response. Ang/Tie signaling system dysfunction results in coagulation dysfunction, and Ang-2 elevation is a sentinel event in disseminated intravascular coagulation. In terms of disease monitoring, the sensitivity of Ang-2>5.61 ng/mL for diagnosing sepsis is 74.36%. Continuing rise of Ang-2 indicates that patients are in difficulty with restoring endothelial function and normal function in organs. Early dynamic mornitoring of Ang-2 can be used to predict sepsis related lung injury and acute kidney injury. The increase in Ang-2/Ang-1 ratio and Ang-2/soluble Tie ratio are independently correlated with the 90 d- mortality rate of sepsis patients(area under ROC curve is 0.787 and 0.704, respectively). Decrease of Ang-2 and / or Tie-2 in levels indicates good efficay of plasma exchange in sepsis patients. Targeting the Ang/Tie signaling pathway have achieved certain success in animal experiments, but currently clinical trials have not yielded valuable results. Further in-depth research is needed on the Ang/Tie signaling pathway related to sepsis.

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    Value of 18F-PSMA PET/MRI for early diagnosis of recurrence and metastasis in prostate cancer patients after radical prostatectomy
    ZHOU Yilei, ZHANG Miao, GUO Rui, ZHOU Jinxin, LI Biao, LI Xiang
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 567-572.   DOI: 10.16150/j.1671-2870.2023.06.009
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    Objective: To investigate the value and significance of 18F-prostate-specific membrane antigen (18F-PSMA)-1007 PET/MR for early diagnosis of recurrence and metastasis in prostate cancer patients after radical prostatectomy (RP). Methods: A total of 143 patients with prostate cancer after radical prostatectomy were enrolled during June 2019 to January 2022 in Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine. All the patients underwent 18F-PSMA-1007 PET/MR imaging within 12 to 60 months after surgery. According to the serum prostate-specific antigen (PSA) levels, patients were divided into 5 groups(PSA≤0.2 ng/mL, 0.2 ng/mL<PSA≤0.5 ng/mL, 0.5 ng/mL<PSA≤4.0 ng/mL, 4.0 ng/mL<PSA<10.0 ng/mL and PSA≥10.0 ng/mL). The detection rates of recurrence or metastasis were compared between different groups. Results: The detection rates of 18F-PSMA-1007 PET/MR for recurrence or metastasis in PSA≤0.2 ng/mL, 0.2 ng/mL<PSA≤0.5 ng/mL, 0.5 ng/mL< PSA ≤ 4.0 ng/mL, 4.0 ng/mL<PSA<10.0 ng/mL and PSA ≥ 10.0 ng/mL groups were 25.00% (6/24),70.00% (7/10),66.67% (16/24),74.07% (20/27) and 94.83% (55/58) respectively, and bilateral comparison between groups revealed that difference in detection rate was statistically significant (P<0.01 or P<0.05). In terms of treatment,34 patients (27.64%) changed their pre-examination treatment regimen based on the results of 18F-PSMA-1007 PET/MR imaging. Conclusions: It reveals that prostate patients with detected recurrence or metastasis account for 25% of those with normal PSA level.The detection rate increases with the increase of PSA levels. It suggests that 18F-PSMA PET/MR can detect recurrence and metastasis in the early stage, which can effectively guide the formulation of treatment plans.

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    Current status and countermeasures of diagnosis and treatment of mild bronchial asthma in China
    ZHOU Yan, ZHANG Min
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 520-526.   DOI: 10.16150/j.1671-2870.2023.06.002
    Abstract138)   HTML11)    PDF(pc) (1139KB)(139)       Save

    In China, bronchial asthma has emerged as the second most prevalent respiratory disease, with mild asthma constituting 50%-70% of the reported cases. The challenges in diagnosing mild asthma arise from the subtle or atypical symptoms exhibited by patients, coupled with the absence of characteristic wheezing sounds. Notably, pulmonary function tests frequently yield normal indices for large airway functions, contributing to a significant misdiagnosis rate exceeding 70%. This high misdiagnosis rate results in patients seeking medical care repeatedly, and some cases receiving inappropriate treatments, with incresed the risk of progressing to moderate or severe asthma, experiencing acute attacks, and facing the potential threat of mortalitydeath. About one-third of asthma deaths occur in mild asthma. Furthermore, the predominant focus on symptom relief rather than the effective control of airway inflammation raises significant concerns regar-ding the diagnosis and treatment of mild asthma in China. In response, the "Expert consensus on the diagnosis, treatment and management of mild bronchial asthma in China (2023 edition)" introduces two diagnostic pathways, namely definitive and presumptive diagnosis, with the aim of enhancing diagnostic accuracy and standardizing treatment approaches. Based on the limitations associated with methods for definitive diagnosis (such as a bronchodilator test's positive rate less than 10% in mild asthma patients and the low clinical implementation rate of bronchial provocation tests), and an understanding of the pathophysiological mechanisms of small airway dysfunction, a presumptive diagnosis pathway to address these inherent shortcomings is proposed. Initially, a singular pulmonary function test is employed for presumptive diagnosis, integrating small airway function with airway inflammation indices. The model is fine-tuned based on age and gender considerations. The assessment of large and small airway reversibility in patients with negative bronchodilator tests serves as a pivotal guide for diagnostic treatment, minimizing the risks of misdiagnosis and overdiagnosis. Treatment and management strategies are selected based on the level of symptom control, with an emphasis on anti-inflammatory approaches. Employing a patient-centered shared decision-making model and implementing an "assessment-adjustment-review" asthma management cycle to individualize precision management is executed to establish diagnostic and treatment strategies for mild asthma, enhancing the overall standard of care for mild asthma.

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    Advances in study on the diagnosis and treatment of small intestinal diseases in 2023
    ZHANG Shuowen, GU Yubei
    Journal of Diagnostics Concepts & Practice    2024, 23 (02): 119-125.   DOI: 10.16150/j.1671-2870.2024.02.004
    Abstract128)   HTML13)    PDF(pc) (964KB)(176)       Save

    In 2023, multiple important discoveries and breakthroughs have been made in the field of small intestine diseases, and database-based global epidemiological study on small intestinal cancer was first released. It showed that the global incidence rate of small intestinal cancer in 2020 was 0.6/100 000, which was on an upward trend compared with the average incidence rate from 2010 to 2020 (average annual change percentage in different continents, 2.20% to 21.67%). The burden of small intestinal cancer was geographic disparity, and age-standardized incidence rate (1.4/100 000) was highest in North America. The incidence rate of small intestinal cancer in China was 0.32/100 000 for men and 1.95/100 000 for women. Risk factors for small bowel cancer (β = 0.008 to 0.198; OR = 1.07 to 10.01) included higher human development index and gross domestic product; smoking and drinking habits; lack of exercise, obesity, diabetes, and lipid metabolism disorders; history of inflammatory bowel diseases. Therapeutically, the combined use of sulindac and erlotinib has been effective in reducing the polyp burden in patients with familial adenomatous polyposis. For Crohn’s disease in the small intestine, in terms of software, AI-assisted endoscopic recognition has been proven to reduce misdiagnosis ,improving medical quality. In terms of hardware, the electric spiral enteroscopy is a double-edged sword. Although it has a higher rate of completing entire small intestine examination, it cannot be widely used in clinical practice until its safety is fully guaranteed. In terms of drugs, with the in-depth understanding of the pathogenesis of the disease, targeted therapy for the inflammatory process has gradually become a research hotspot. Clinical data on small-molecule agents such as upadacitinib and filgotinib are continuously accumulating. In terms of surgery, the latest evidence supports that surgery may become a first-line treatment for specific Crohn’s disease. The diagnosis and treatment of small intestine bleeding are also continuously improving. Thalidomide, as a drug used to treat small intestine bleeding caused by capillary malformations, has brought good news to a large number of patients. In addition, the surgical treatment for small intestine obstruction is gradually being updated, and there are now more accurate prediction models for treatment decisions in patients with small intestine obstruction. Looking ahead, with the continuous development and innovation of medical technology, and artificial intelligence, the diagnosis and treatment of small intestinal diseases will become more precise and efficient.

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    Value of Kyoto gastritis score and modified prediction model in diagnosing Helicobacter pylori infection status under gastroscopy in Chinese population
    QIAN Danye, MENG Xiangjun, ZHU Liming
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 555-561.   DOI: 10.16150/j.1671-2870.2023.06.007
    Abstract127)   HTML2)    PDF(pc) (2569KB)(219)       Save

    Objective: To validate the application value of Kyoto gastritis score in diagnosing Helicobacter pylori (Hp) infection status under gastroscopy in Chinses population, and to construct a modified prediction model to improve the diagnostic value of Hp infection. Methods: A total of 749 cases who underwent gastroscopy at the Digestive Endoscopy Center of the Ninth People's Hospital (North), Shanghai Jiao Tong University School of Medicine, from January 1, 2021 to June 1, 2023 were retrospectively collected. Patients were divided into Hp-positive group and Hp-negative group based on histopathological biopsy or 13C breath test results. The endoscopic mucosal manifestations were recorded according to the Kyoto classification of gastritis, including atrophy, intestinal metaplasia, fold enlargement, diffuse redness, nodularity, RAC, red streak, and other 18 manifestations to verify the diagnostic value of Kyoto gastritis score for Hp infection. The mucosal manifestations with significant differences in univariate analysis were included in binary Logistic regression, and a modified prediction model was constructed according to the regression coefficients. ROC analysis was used to analyze the diagnostic value of Kyoto gastritis score and the modified prediction model for Hp infection. Results: The Hp infection rate was 54.47%. Intestinal metaplasia, fold enlargement, nodularity, diffuse redness, spotty redness, and sticky mucus were independent predictors of Hp infection. RAC, red streak, white and flat elevated lesion were independent predictors of Hp non-infection. The area under the curve was 0.861 (95%CI was 0.835~0.887), the accuracy was 75.2%, and the sensitivity and specificity were 88.5% and 65.1%. Mucosal manifestations such as spotty redness, sticky mucus, and RAC were incorporated into the modified prediction model. The results showed that the specificity (85.9%), positive predictive value (88.2%), negative predictive value (85.4%) and AUC [0.929 (95%CI was 0.910-0.947)] of the modified prediction model for Hp infection were higher than those of Kyoto gastritis score [65.1%, 75.2%, 82.5% and 0.861 (95%CI was 0.835-0.887), respectively]. Conclusions: Kyoto gastritis score has a certain application value for Hp in the Chinese population, and the modified prediction model has a higher diagnostic value for Hp infection.

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    Diagnosis and treatment practice of chest tightness variant asthma in China
    HUA Wen, SHEN Huahao
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 513-519.   DOI: 10.16150/j.1671-2870.2023.06.001
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    Chest tightness variant asthma (CTVA) is an atypical form of asthma, characterized by chest tightness as the primary symptom, without the typical asthma symptoms, such as recurrent wheezing and shortness of breath. Since it was first reported and named internationally in 2013, CTVA has gradually been recognized by clinical physicians in China and has undergone extensive clinical practice. As for diagnosis of CTVA ,doctors should integrate symptoms of chest tightness and objective evidence of variable airflow restriction, exclude chest tightness caused by other diseases, and find effective results of asthma treatment in patients. The treatment principle of CTVA is similar to that of typical asthma. An appropriate initial treatment level should be selected based on the patient's chest tightness attack, and the stepwise treatment plan should be followed for upgrade and downgrade treatment. Based on clinical diagnosis and treatment practices, this article systematically introduces the diagnostic criteria, diagnostic procedures, management evaluation, and treatment plans of CTVA,which is to help clinical physicians in standardizing the diagnosis and treatment of CTVA.

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    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 96-99.   DOI: 10.16150/j.1671-2870.2024.01.013
    Abstract121)   HTML4)    PDF(pc) (842KB)(535)       Save
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    Current status and strategies of asthma questionnaire application in China
    BAO Wuping, LIN Yanmei, ZHANG Min
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 534-540.   DOI: 10.16150/j.1671-2870.2023.06.004
    Abstract115)   HTML3)    PDF(pc) (873KB)(357)       Save

    The prevalence of bronchial asthma in China is 4.2%, similar to other countries around the world, but the mortality rate of asthma in China is 36.7 /100 000, which is four times as high as that of Japan and seven times as that of the United States. Therefore, It is urgent for China to strengthen the effectiveness of asthma management and minimize the risk of related deaths. Pivotal aspects of asthma management involve screening and assessing symptom control. Simple screening tools expedite rapid identification of patients who require more detailed assessment in primary medical care. Numerical tools like ACT and ACQ are widely used in clinical practice and clinical research. Categorical symptom control tools are extensively used in clinical studies. For example,asthma APGAR (Activities, Persistence, Triggers, Asthma medications, Response to therapy) questionnaire not only assists in assessing asthma, but also in enhancing treatment adherence, improving asthma control. Currently, some asthma questionnaires face limitations in their application in China, particularly concerning sociocultural factors, specific age groups, and heterogeneous phenotypes. More attention should be paid to individualized factors (age diverse, clinical phenotypes), and use of biomarkers and intelligent technologies in questionnaire design for enhancing management of asthma.

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