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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 Abstract （15560）   HTML （1127）    PDF（pc） （3389KB）（12515）       Knowledge map    Save With the sustained growth of economy and significant changes in social demographics, the issue of elderly-related diseases has increasingly drawn attention particularly. Alzheimer's disease (AD),as a representative disease of neurodegenerative diseases has become a major challenge, affecting the health and quality of life among the elderly population severely. In recent years, the incidence, prevalence, and mortality rate of AD increase in China, imposing substantial economic burdens on families, society, and the entire healthcare system. To proactively address this challenge and respond to the national 'Healthy China Action' initiative, leading experts from Renji Hospital, Shanghai Jiao Tong University School of Medicine,and Chinese Center for Disease Control and Prevention Chronic Non-communicable Disease Control Center, Fudan University School of Public Health, Shanghai Mental Health Center, Ruijin Hospital,Shanghai Jiao Tong University School of Medicine, Fujian Medical University, and other authoritative institutions, have jointly authored the 'China Alzheimer Disease Report 2024'. Building upon previous editions of 2021, 2022, and 2023, this report updates epidemiological data on AD in China, thoroughly analyzes the latest economic burdens of the disease, and comprehensively evaluates the current status of AD diagnosis and treatment services, as well as the allocation of public health resources in our country. The release of the 'China Alzheimer Disease Report 2024' not only reflects China's progress and efforts in AD research and prevention, but also underscores the social heightened concern for elderly health issues. It aims to provide scientific and technical guidance and robust data support for the prevention, diagnosis, and treatment of AD, offering a professional basis for the government and relevant departments to formulate targeted health policies and intervention measures. Furthermore, it serves as a platform for promoting academic exchanges and cooperation in this field domestically and internationally. Through the dissemination and application of this report, we anticipate it will not only serve as a reference for professionals but also enhance public awareness of AD, promote active participation across various sectors of society, and jointly advance the development of elderly health care in China, empowering us towards achieving 'healthy aging'. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （7207）   HTML （287）    PDF（pc） （2270KB）（6990）       Knowledge map    Save 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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （3048）   HTML （17）    PDF（pc） （904KB）（1355）       Knowledge map    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. Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1971）   HTML （54）    PDF（pc） （945KB）（3341）       Knowledge map    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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1834）   HTML （43）    PDF（pc） （1010KB）（4036）       Knowledge map    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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1660）   HTML （34）    PDF（pc） （1585KB）（1585）       Knowledge map    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), 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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1657）   HTML （38）    PDF（pc） （923KB）（980）       Knowledge map    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. Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1612）   HTML （79）    PDF（pc） （1106KB）（3735）       Knowledge map    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 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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1590）   HTML （50）    PDF（pc） （1392KB）（3492）       Knowledge map    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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1279）   HTML （22）    PDF（pc） （960KB）（321）       Knowledge map    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. Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1119）   HTML （11）    PDF（pc） （9441KB）（2461）       Knowledge map    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 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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （1091）   HTML （19）    PDF（pc） （935KB）（1105）       Knowledge map    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. Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （965）   HTML （19）    PDF（pc） （1039KB）（1771）       Knowledge map    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. Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （961）   HTML （20）    PDF（pc） （1728KB）（1031）       Knowledge map    Save 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. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （876）   HTML （17）    PDF（pc） （913KB）（2118）       Knowledge map    Save 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. Reference | Related Articles | Metrics | Comments（0）

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Hot spots in diagnosis of malignant melanoma WU Nanming, LI Jun, TAO Juan Journal of Diagnostics Concepts & Practice    2023, 22 (03): 215-220.   DOI: 10.16150/j.1671-2870.2023.03.02 Abstract （868）   HTML （28）    PDF（pc） （997KB）（1325）       Knowledge map    Save The global incidence of melanoma increased from 2.01/ 100 000 in 1990 to 3.75/100 000 in 2019. The incidence and mortality rate of malignant melanoma in China is lower than that of the global average, but in recent years, its incidence rate has increased (3% to 5%). Malignant melanoma is the fastest growing malignant tumor in China, and new melanoma patients reach 20 000 to 30 000 cases every year. Melanoma is prone to invasion and metastasis, and the 5-year survival rate of stage IV patients is only 4.6%. Early diagnosis and treatment can greatly improve the prognosis of patients with malignant melanoma. At present, the hot spots in the diagnosis of malignant melanoma include visual aid, artificial intelligence-assisted diagnosis, histological diagnosis and differential diagnosis. Visual AIDS can be used to screen for melanoma, and dermoscopy and skin confocal technology (CT) can diagnose melanoma with sensitivity of 61% and 100%, respectively. AI based diagnosis of malignant melanoma is more accurate than that of artificial intelligence alone or doctors, and can improve the diagnosis accuracy of malignant melanoma from 55.6% to 75.0%. With the continuous progress of second-generation sequencing technology in histology diagnosis, there is still a lack of objectively and highly repeatable immunohistochemical markers applicable to all melanomas. However, with the development of melanoma genomics research, BRAF V600E and NRAS mutations have been applied in clinical diagnosis, treatment and prognosis assessment. Malignant melanoma is highly invasive, and many patients are in the advanced stage when diagnosed. Therefore, the diagnosis and treatment of melanoma in China should pay attention to the multidisciplinary diagnosis and treatment team model, and promote the diagnosis and treatment principles and guidelines based on multidisciplinary consensus. Reference | Related Articles | Metrics | Comments（0）

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Potential biomarkers for prediction of the efficacy and safety of CAR T cell treatment in systemic lupus erythematosus WANG Yiyang, LÜ Liangjing Journal of Diagnostics Concepts & Practice    2024, 23 (03): 263-269.   DOI: 10.16150/j.1671-2870.2024.03.003 Abstract （836）   HTML （12）    PDF（pc） （939KB）（237）       Knowledge map    Save Systemic lupus erythematosus (SLE) is a complex autoimmune disease for which traditional treatments often show limited efficacy in severe and refractory cases. Recently, chimeric antigen receptor (CAR) T cell therapy has emerged as a novel immunotherapy strategy, demonstrating significant efficacy in preliminary studies for SLE treatment. Biomarkers are crucial for the precise assessment of treatment efficacy and safety. Biomarkers for monitoring the efficacy of CAR T cell therapy include traditional markers and markers related to CAR T therapy. Traditional markers for SLE disease monitoring, such as decreased titers of serum anti-double-stranded DNA, anti-single-stranded DNA, anti-nucleosome autoantibodies, normalization of serum complement levels, and improvement of urine protein/creatinine ratio, indicate that the disease is effectively controlled and can still be used for baseline follow-up and disease monitoring during CAR T cell therapy. B cell markers indicating effective CAR T therapy include a decrease in the number of B cells after infusion, a B cell phenotype dominated by the naive B cell, and a significant decrease in the proportion of memory B cells and plasmablasts. Regarding T cell markers related to CAR T therapy, the high proportion of naive T cell (CD45RA+CD27+) and central memory T cell (CD45RA-CD62L+CD27+) subsets before infusion indicate stronger anti-tumor efficacy; The initial expression of transcription factors associated with early memory differentiation on patients’ CAR T cells, such as T cell factor 7 (TCF7) and lymphoid enhancer‐binding factor 1 (LEF1), suggest that these patients may be sensitive to CAR T therapy. After infusion, high expression of T cell activation markers (CD25, CD69 and CD137), and exhaustion markers (CD57, PD-1, and Tim-3) indicate that T cells are in a state of dysfunction, with limited expansion, cytokine secretion and cell killing capabilities. Safety markers, including effector cytokines secreted by CAR T cells [interleukin(IL)-2 and IFN-γ] and cytokines produced by monocytes and macrophages (IL-1 and IL-8), can be used to monitor the most common toxicities and side-effects of CAR T-cell therapies, cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS).High levels of serum macrophage inflammatory protein-1α (MIP-1α) are of high value for predicting the risk of severe CRS and ICANS after CAR T-cell therapy. In addition, haematotoxicity markers include baseline platelet count and absolute neutrophil count, and an infection-related prediction model consisting of IL-8, IFN-γ and IL-1β are effective in predicting the risk of severe infection in patients after infusion.The design of the CAR receptor structure, the chemotherapeutic modality used to remove the lymphocytes, as well as the choice of treatments that the patient had received and the autoimmune status, all affect the efficacy and safety. A comprehensive and standardised testing and evaluation system should be included in current and future clinical studies to provide a comparative standard for the use of CAR T-cell therapy in autoimmune diseases such as SLE. Reference | Related Articles | Metrics | Comments（0）

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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 Abstract （812）   HTML （17）    PDF（pc） （918KB）（1988）       Knowledge map    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. Reference | Related Articles | Metrics | Comments（0）

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Establishing reference intervals of four routine coagulation indicators in healthy Chinese adults YAO Yong, DONG Zhenghua, FAN Houzhen, GAO Yunqin, LIU Qian, WU Jun Journal of Diagnostics Concepts & Practice    2023, 22 (04): 379-384.   DOI: 10.16150/j.1671-2870.2023.04.008 Abstract （772）   HTML （11）    PDF（pc） （963KB）（698）       Knowledge map    Save Objective To establish four coagulation indicators suitable for Chinese adults, including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT) and fibrinogen (FIB). Methods Representative medical institutions from East and North China were selected. A total of 668 Chinese healthy adults were enrolled from Shanghai Oriental Hospital (South Campus), Beijing Jishuitan Hospital and Linyi Hospital of Traditional Chinese Medicine in this study. The cobas t 711 platform was used to detect the four coagulation indicators, and reference intervals were established based on the results. Results The reference interval applicable to all enrolled population was established: APTT (s): 26.6-43.6 s, PT (s): 7.67-10.5, TT (s): 14.5-19.2, FIB (mg/dL): 193-419. The four coagulation indicators were statistically different in different regions, genders and ages. In the gender analysis, difference in PT was the most significant (P<0.001). PT and APTT were higher in the male group, and FIB was higher in the female group; Taking ≤50 years as the cut-off age, APTT, FIB were statistically higher in the elderly group (>50 years old); There were statistical differences in APTT, FIB, PT, and TT in different regions (Shanghai, Beijing, and Shandong) (P<0.001). The median APTT and FIB were highest in Shanghai (P<0.001), the median PT was highest in Beijing (P=0.001), and the median TT was highest in Shandong. Conclusions The reference interval of four coagulation indicators suitable for Chinese healthy adult population is established. Factors that influencing the reference intervals include region and age. Reference intervals between male and female overlaps,and reference intervals establishment depends on laboratory conditions, influencing factors (region, and age) on coagulation management. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Advances in the study of tsRNA as diagnostic and prognostic biomarkers in cancer WANG Shukui, GU Xinliang Journal of Diagnostics Concepts & Practice    2023, 22 (05): 413-420.   DOI: 10.16150/j.1671-2870.2023.05.001 Abstract （758）   HTML （15）    PDF（pc） （966KB）（1689）       Knowledge map    Save Transfer RNA (tRNA) promotes the protein translation process by binding with corresponding amino acids and transporting them to the ribosome, emphasizing the vital role of tRNA in protein translation. Transfer RNA-derived small RNA (tsRNA) are fragments originating from tRNA and are produced when these tRNA are cleaved. As the degradation products of tRNA, tsRNA retain significant biological functions, notably in regulating gene expression and modulating translation. Recent researches have highlighted the dual regulatory role of tsRNA in oncology, especially their pronounced variations in the bodily fluids of cancer patients, accentuating the potential of tsRNA as biomarkers for cancer diagnosis and prognosis. Upregulation of tsRNA and 5'tiRNA His GTG related to colorectal cancer promotes tumor occurrence and development; Upregulation of 5 '-tiRNA Val generated by angiopoietin cleavage promotes tumor metastasis and growth; Upregulation of tRF-20-MEJB5Y13 promotes the migration and invasion of colorectal cancer cells. Upregulation of gastric cancer related tsRNA, tRF-19-3L7L73JD, can promote the progression of malignant tumors, while upregulation of tRF-24-V29K9UV3IU, tRF-5026a, and tRF-Val may inhibit tumor proliferation and progression. In terms of clinical application, the expression of plasma 5-tRF-GlyGCC is increased, and the area under the curve for diagnosing colorectal cancer is 0.882. The plasma tRF-5026a is decreased, and the area under the curve for diagnosing colorectal cancer is 0.883. The expression of tRF-27-FDXXE6XRK45, tRF-29-R9J8909NF5JP, and tRF-23-Q99P9P9NDD in the serum of gastric cancer patients was significantly increased. The area under the diagnostic curve for gastric cancer was 0.805, 0.889, and 0.783, respectively; The serum tDR ‐ 000620 in triple negative breast cancer decreased, which was related to lymph node metastasis and disease recurrence. In the plasma exosomes of gastric cancer patients, the expression of tRF-38, tRF-25, and tRF-18 is elevated, which can be used for diagnosis and may be a postoperative predictive factor. The expression levels of tRNA ValTAC-3, tRNA GlyTCC-5, tRNA ValAAC-5, and tRNA GluCTC-5 in the plasma exosomes of liver cancer patients have significantly increased, which may be emerging biomarkers.This article reviews the biogenesis, classification, and biological functions of tsRNA, emphasizing the advancements in their application as tumor biomarkers and delineating their roles across various cancer types, offering insights into their utility in oncological research and clinical applications. Table and Figures | Reference | Related Articles | Metrics | Comments（0）