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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）（12512）       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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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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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 （1970）   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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Trends in global major disease burden and health conditions—interpretation of the Global Burden of Disease Study 1990-2021 FAN Bonan, LI Yan Journal of Diagnostics Concepts & Practice    2024, 23 (05): 474-483.   DOI: 10.16150/j.1671-2870.2024.05.003 Abstract （750）   HTML （43）    PDF（pc） （3009KB）（1727）       Knowledge map    Save The Global Burden of Disease Study 2021 (GBD 2021) analyzed 371 diseases and injuries using 100,983 data sources, estimating years lived with disability, years of life lost, disability-adjusted life years, and healthy life expectancy. From 1990 to 2019, the annual rate of change in global all-cause mortality ranged from -0.9% to 2.4%, while deaths increased by 10.8% and 7.5% in 2020 and 2021 respectively due to COVID-19. In 2021, COVID-19 was the second lea-ding cause of death globally, with a mortality rate of 94.0 per 100 000. The mortality rates of other major causes, such as ischemic heart disease and stroke were 108.7 and 87.4 per 100 000, respectively. Global life expectancy rose from 65.5 years in 1990 to 73.3 years in 2019 but dropped to 71.7 years in 2021 due to COVID-19, which reduced life expectancy by 2.2 years, significantly impacting the trend of health improvement. In China, GBD 2021 data shows a significant increase in life expectancy from 1990 to 2021: from 69.9 to 80.7 years for women and from 65.7 to 74.9 years for men. However, non-communicable diseases such as cardiovascular diseases, cancers, and chronic respiratory diseases remain major health threats. In 2021, these diseases had the highest burden among the top ten causes in China, with rising incidence and morta-lity rates. Major health risk factors in China include tobacco, hypertension, and dietary risks. This paper, through the systematic analysis of GBD 2021 data, reveals current trends in disease burden globally and in China, and proposes public health strategy recommendations. China should enhance chronic disease management, improve public health emergency responses, address health inequalities, and promote basic research and international cooperation to improve overall health levels. 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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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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Current status and challenges in ultrasound diagnosis and treatment of thyroid nodules in China ZHOU Jianqiao, ZHANG Lu, XU Shangyan Journal of Diagnostics Concepts & Practice    2024, 23 (04): 362-370.   DOI: 10.16150/j.1671-2870.2024.04.003 Abstract （298）   HTML （16）    PDF（pc） （1012KB）（655）       Knowledge map    Save Thyroid nodules (TNs) exhibit a high prevalence rate of 36.9% in China, with a marked preponderance in females over males, and regional variations observed. Ultrasonography (US), due to its non-invasiveness, convenience, and high sensitivity, has emerged as the primary diagnostic tool for TNs. In recent years, advancements in US diagnostic techniques have flourished, including the Thyroid Imaging Reporting and Data System (TIRADS), multimodal US, fine-needle aspiration (FNA) coupled with molecular testing, and artificial intelligence (AI). Notably, the 2020 edition of the Chinese-specific C-TIRADS system has improved diagnostic accuracy by tailoring to China's healthcare landscape. Multimodal US assessment, integrating various US techniques, has significantly enhanced diagnostic efficacy, reducing unnecessary biopsies. Molecular testing and AI-assisted diagnosis have further improved diagnostic precision; however, the generalization capabilities of AI models and their long-term clinical application efficacy remain to be validated. Ultrasound-guided interventional therapies occupy a pivotal position in TN management, including chemical ablation and thermal ablation techniques. Chemical ablation is primarily utilized for cystic-predominant nodules, whereas thermal ablation is suitable for both cystic-solid and solid nodules, with their combined application yielding optimal results. Although the application of thermal ablation in thyroid micropapillary carcinoma remains controversial, preliminary studies have demonstrated its efficacy and safety. Despite the remarkable progress in US technologies for TN diagnosis and treatment, challenges persist, including inconsistent diagnostic criteria, disparities in equipment and technical expertise across regions and hospitals, and the absence of large-scale studies on the long-term efficacy and safety of thermal ablation. Future directions encompass refining risk stratification systems, intensifying research on multimodal US assessment, enhancing the generalization capabilities of AI models, standardizing the application of molecular testing, exploring indications for ablation therapy, and establishing standardized efficacy assessments. Reference | Related Articles | Metrics | Comments（0）

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Interpretation of cancer death burden data from disease surveillance sites in China from 2005 to 2020 ZHANG Xin, ZHENG Ying Journal of Diagnostics Concepts & Practice    2024, 23 (04): 371-377.   DOI: 10.16150/j.1671-2870.2024.04.004 Abstract （259）   HTML （38）    PDF（pc） （1154KB）（545）       Knowledge map    Save In December 2023, the Chinese Center for Disease Control and Prevention published National and subnational trends in cancer burden in China, 2005-2020: an analysis of national mortality surveillance data.on Lancet Public Health, covering the mortality rate and average years of life lost from 23 specific tumor sites in people in 31 provinces and cities across the country. The analysis suggests that in 2020, the number of deaths from cancer in China was 2.3978 million, with a mortality rate of 170.80/100 000. The top 10 tumor deaths cases are as follows: lung cancer 761,000, liver cancer 367,700, stomach cancer 291,200, colorectal cancer 182,400, esophageal cancer 173,300, pancreatic cancer 100,400, breast cancer 57,100, leukemia 54,900, cranial nerve cancer 54,200, cervical cancer 44,800, accounting for 32.0%, 15.3%, 12.1%, 7.6%, 7.2%, 4.2%, 2.4%, 2.3%, 2.3%, 1.9% of the total number of deaths due to tumors, respectively. The mortality rates were 54.57/100 000, 26.19/100 000, 20.74/100 000, 13.00/100 000, 12.34/100 000, 7.15/100 000, 4.06/100 000, 3.91/100 000, 3.86/100 000 and 3.19/100 000, respectively. In 2020, the average years of life lost (AYLL) due to cancer in China was 23.60 years, which was 3.74 years lower than that in 2015. Among them, leukemia caused an AYLL of 37.35 years, with a decrease of 13.36 years from the AYLL of 50.71 years caused by leukemia in 2005, but it was still the tumor that caused the most life loss. Prostate cancer was the tumor that caused the least AYLL. The composition of China’s cancer spectrum is changing to those in developed countries. Lung cancer, breast cancer and colorectal cancer, which are highly prevalent in developed countries, are showing an increasing disease burden trend in China. In 2020, the mortality rates of lung cancer, breast cancer and colorectal cancer all increased during this period, increasing by 78.98%, 19.41% and 47.56% respectively compared with those in 2005. GLOBOCAN2022 suggests that the top 10 cancer incidence rates in China in 2020 are lung cancer (40.8/100 000), breast cancer (33.0/100 000), thyroid cancer (24.6/100 000), liver cancer (20.1/100 000), cervical cancer (15.0/100 000), gastric cancer (13.8/100 000), prostate cancer (13.7/100 000), esophageal cancer (9.7/100 000), uterine cancer (8.7/100 000) and ovarian cancer (6.8/100 000). Five of the top 10 common cancer in China and the United States overlap, and lung cancer is the leading cause of death in both countries. Changes in the spectrum of tumor diseases have made the promotion and implementation of proven tumor prevention and control measures more urgent. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation of 2024 American Diabetes Association’s Standards of Care in Diabetes — diabetes diagnosis and classification LI Yanbing Journal of Diagnostics Concepts & Practice    2024, 23 (05): 467-473.   DOI: 10.16150/j.1671-2870.2024.05.002 Abstract （245）   HTML （3）    PDF（pc） （932KB）（394）       Knowledge map    Save Diabetes is a common chronic disease, which has caused a significant health and economic burden worldwide. Diabetes is highly heterogeneous. Accurate diagnosis and classification are the premises to achieve standardized and accurate treatment of diabetes and improve the clinical outcomes of patients. Recently, the American Diabetes Association (ADA) issued the 2024 Standards of Medical Care in Diabetes. In the chapter on diabetes diagnosis and classification, the latest developments have been taken into account, with recommended approaches for the differential diagnosis of atypical diabetes, screening, diagnosis, and follow-up processes of different types of diabetes. This article interprets this section of the guidelines to provide a reference for healthcare professionals in the endocrine field in China for the accurate diagnosis, classification, and individualized treatment of diabetes. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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The value of inflammatory cytokines（TNF-α, IL-6 and IL-8） in predicting prognosis in patients with new-onset intracerebral hemorrhage GU Tianyan, PAN Jingyu, CHEN Lin, ZOU Zhihao, SHI Qinghai Journal of Diagnostics Concepts & Practice    2024, 23 (04): 405-415.   DOI: 10.16150/j.1671-2870.2024.04.009 Abstract （262）   HTML （15）    PDF（pc） （1201KB）（377）       Knowledge map    Save Objective To investigate correlation of levels of tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), and IL-8 in cerebrospinal fluid with the severity of the disease in patients with intracerebral hemorrhage, and to analyze the value of the cytokines for predicting prognosis of the patients. Methods A total of 40 patients with new-onset intracerebral hemorrhage, admitted to the Department of Neurosurgery of the General Hospital of Xinjiang Military Region, were collected from March 2023 to December 2023. Forty patients who underwent cerebrospinal fluid examination at the hospital due to the presence of clinical symptoms, but whose central nervous system disease was eventually excluded, served as the control group. Within 24 h of the onset of illness, the patient's cerebrospinal fluid was collected,as well as the laboratory test results. The levels of inflammatory cytokines TNF-α, IL-6, and IL-8 were measured both in serum and cerebrospinal fluid samples. Patients were divided into the mild-moderate group (GCS 9-15, n=14) and severe group (GCS 3-8, n=26) accor-ding to the Glasgow coma scale (GCS) on admission, and also were divided into ≥30mL group (n=21) and <30mL group (n=19) according to the hemorrhage volume. At 90 days after discharge, the patients with intracerebral hemorrhage were divided into a good prognosis group (GOS 4-5 points, n=18) and a poor prognosis group (GOS 1-3 points, n=22) according to the Glasgow out-come scale (GOS). Spearman correlation coefficient and Receiver operating characteristic curve (ROC) was used to analyze the value of inflammatory cytokines in serum and cerebrospinal fluid for predicting the prognosis in patients with intracerebral hemorrhage. Results Compared with the control group, TNF-α, IL-6 and IL-8 levels in serum and cerebrospinal fluid were significantly increased in the intracerebral hemorrhage (P<0.001). The levels of TNF-α, IL-6 and IL-8 in serum and cerebrospinal fluid were higher in the severe intracerebral hemorrhage group than those in the mild-moderate group (P<0.01), and all of them were negatively correlated with the GCS score (r=-0.397, P<0.05; r=-0.587, P<0.01; r=-0.615, P<0.01; r=-0.696, P<0.01; r=-0.671, P<0.01; r=-0.510, P<0.01). Compared with patients in the group of hemorrhage volume <30mL, TNF-α, IL-6 and IL-8 levels in cerebrospinal fluid of patients in the ≥30 mL group were elevated (P<0.05), and in serum only IL-6 levels were elevated (P<0.05). The levels of TNF-α, IL-6 and IL-8 in serum and cerebrospinal fluid were elevated in the poor prognosis group compared with the good prognosis group (P<0.01). The area under the curve (AUC) of single and combined detection of TNF-α, IL-6 and IL-8 in the cerebrospinal fluid of patients with cerebral hemorrhage for the first time on admission to the hospital for predicting the prognosis of patients with cerebral hemorrhage were 0.836, 0.773, 0.849, and 0.917, respectively. The AUC of single and combined tests of serum TNF-α, IL-6 and IL-8 in patients within 24 h admission for predicting the prognosis were 0.692, 0.808, 0.721 and 0.843, respectively. Conclusions TNF-α, IL-6 and IL-8 levels are elevated in the cerebrospinal fluid of patients with intracerebral hemorrhage, and they correlated with the severity of the patient's condition. In addition, the levels of these indicators in the cerebrospinal fluid detected for the first time on admission may be used to predict the prognosis 90 days after discharge. 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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Differential diagnosis and treatment of thyroid storm YAN Huixian, LÜ Chaohui Journal of Diagnostics Concepts & Practice    2024, 23 (04): 354-361.   DOI: 10.16150/j.1671-2870.2024.04.002 Abstract （309）   HTML （16）    PDF（pc） （1282KB）（304）       Knowledge map    Save Thyroid storm is a rare, life-threatening endocrine emergency characterized by severe clinical manifestations of thyrotoxicosis. Studies in the United States and Japan show that the annual incidence rates of hyperthyroid storm are (0.57-0.76) per 100 000 people and 0.2/100 000 people, respectively, accounting for 0.22% of all hyperthyroid patients and 5.4% of hospitalized hyperthyroid patients. Even with timely treatment, the mortality rate of patients with hyperthyroidism storm is still as high as 10%-30%; If left untreated, the mortality rate of patients may reach 90%. The misdiagnosis and missed diagnosis rate of hyperthyroidism storm in the Emergency Department is as high as 43.48%. It may be precipitated by abrupt discontinuation of antithyroid drugs or by an acute event such as infection, trauma, thyroid or nonthyroidal surgery, an acute iodine load, or parturition and other rare causes. There are currently no recognized standards or validated clinical tools for diagnosing thyroid storm. The diagnosis of thyroid storm is based upon the presence of biochemical evidence of hyperthyroidism (elevation of free T4 and/or T3 and suppression of TSH), and severe and life-threatening symptoms (hyperpyrexia, cardiovascular dysfunction, and altered mentation). BWPS has been widely used for the identification of thyroid storm for nearly 30 years. The main treatments for thyroid storm consist of symptomatic treatment and specific treatment for the thyroid gland, including removing the cause and treating complications cuse of thionamide, iodine, glucocorticoids and beta-blockers to inhibit new hormone synthesis, block the peripheral conversion of T4 to T3, inhibition of the release of thyroid hormone. If the above treatment do not improve the condition, blood purification therapy (plasmapheresis) can be tried. In addition to specific therapy directed against the thyroid, supportive therapy is essential. After active treatment, most of the status of patients with thyroid storm are improved within 1 to 2 days. After a successful rescue of thyroid storm, hyperthyroidism should be treated by radical treatment. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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One strain of Candida lusitaniae isolated from vaginal secretions: a case report LIU Hui, LU Faqiang Journal of Diagnostics Concepts & Practice    2024, 23 (03): 330-334.   DOI: 10.16150/j.1671-2870.2024.03.012 Abstract （181）   HTML （12）    PDF（pc） （5771KB）（262）       Knowledge map    Save Candida lusitaniae vaginitis is clinically rare. This article reports a case of vaginitis caused by Candida lusitaniae in a 40-year-old female patient. The main clinical manifestations of the patient were pruritus vulvae before menstruation, increased vaginal discharge, and recurrent symptoms for six months. Vaginal secretions from the patient were directly smeared and subjected to immunofluorescence staining, Gram staining, and Giemsa staining, revealing fungal spores upon microscopic examination. Identification using CHROMagar chromogenic plates revealed the presence of Candida lusitaniae. The bioMérieux VITEK-2 Compact automated microbiology system identified the organism as Candida lusitaniae. The diagnostic and treatment process of this case suggests that laboratory diagnosis of Candida lusitaniae can easily be confused with other Candida species. To prevent underreporting or misreporting, it is necessary to consider the possibility of infection by rare strains in refractory cases. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Progress in diagnosis and treatment of pediatric diabetes in China PEI Zhou, LUO Feihong Journal of Diagnostics Concepts & Practice    2024, 23 (05): 461-466.   DOI: 10.16150/j.1671-2870.2024.05.001 Abstract （219）   HTML （9）    PDF（pc） （925KB）（245）       Knowledge map    Save The global incidence of type 1 diabetes mellitus (T1DM) in children and adolescents aged 0-19 years is about 1 211.9/10 million, with an incidence rate of 149.5/1 million person-years. In China, the incidence of T1DM in children and adolescents aged 0-19 years is about 56/1 million, with an incidence rate of 6.1/1 million person-years. The incidence of type 2 diabetes mellitus (T2DM) in children and adolescents has been rising annually. Epidemiological data shows that the incidence of T2DM among adolescents in the United States increased from 34/100 000 in 2001 to 46/100 000 in 2009 and to 67/100 000 in 2017. In China, the incidence of pediatric T2DM has also shown a significant upward trend, rising from 4.1/100 000 in 1995 to 10.0/100 000 in 2010. The diagnostic criteria for pediatric diabetes in China follow the standards set by the World Health Organization in 2019. Diabetes subtypes related to children include T1DM, T2DM, mixed-type diabetes, and other specific types of diabetes. The typical clinical manifestations of adult diabetes are polydipsia, polyuria, polyphagia, and weight loss (the ‘three P’s and one less’). However, in children with T1DM, these symptoms are more pronounced, while T2DM may present more subtly. Traditional treatment for T1DM primarily involves insulin therapy, but it cannot fundamentally address the issue of impaired pancreatic function. Preventing or delaying β-cell damage and protecting the remaining pancreatic function have become new research directions in T1DM treatment. In addition to traditional insulin therapy and lifestyle interventions, new treatments such as immunotherapy, artificial pancreas, and stem cell transplantation have shown promising clinical results. These advances not only provide new directions for the future treatment of diabetes but also have the potential to transform diabetes from an incurable disease into a treatable one. 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）（233）       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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Diagnostic efficacy analysis of mean reticulated hemoglobin content for diagnosing iron deficiency anemia and its severity DING Ning, LIU Lin, JIN Peipei, WANG Fang, WANG Tiankai Journal of Diagnostics Concepts & Practice    2024, 23 (03): 318-323.   DOI: 10.16150/j.1671-2870.2024.03.010 Abstract （311）   HTML （6）    PDF（pc） （1052KB）（212）       Knowledge map    Save Objective To evaluate the value of mean reticulated hemoglobin content (Mchr) in diagnosing iron deficiency anemia (IDA) and assessing its severity. Methods This study included 302 patients with IDA from January 2021 to December 2021, recruited from Ruijin Hospital, Shanghai Jiao Tong University School of Medicine (North), Xinhua Hospital, and Ruijin Hospital. The cohort comprised 118 patients with mild anemia, 159 with moderate anemia, and 25 with severe anemia. In addition, 365 non-IDA patients (encompassing those with thalassemia, megaloblastic anemia, pure red cell aplastic anemia, hemolytic anemia, and aplastic anemia) and 138 healthy controls were included. Venous blood samples were collected from all participants for analysis of hemoglobin (Hb), hematocrit (HCT), Mchr, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), serum iron (Fe), transferrin saturation (TS), ferritin, and total iron-binding capacity (TIBC). Mchr levels were compared between the IDA and non-IDA patient groups and between different degrees of IDA severity. Receiver operating characteristic (ROC) curves were plotted to evaluate the diagnostic value of Mchr in IDA. Results Compared with the non-IDA group, the IDA cohort exhibited significantly reduced levels of Mchr, Hb, MCV, MCH, MCHC, HCT, Fe, TS, and ferritin, while TIBC was markedly elevated, with all differences being statistically significant (P<0.05). Mchr demonstrated positive correlations with Hb, MCV, MCH, MCHC, HCT, Fe, TS, and Ferritin, and a negative correlation with TIBC in the IDA group. Mchr levels decreased sequentially with increasing severity of IDA, with significant differences observed among the three groups (P<0.05). The ROC curve analysis revealed that the cut-off value of Mchr for diagnosing IDA was <26.7 pg, with a sensitivity of 80.00% and specificity of 93.38%, yielding an area under the curve (AUC) of 0.9338(95%CI: 0.9157-0.9518). The sensitivity and the specificity of Mchr+Fe+Ferrit+TIBC in diagnosing IDA (Fe<5.7 μmol/L, Ferritin<7.1 ng/mL, TIBC>65.8 μmol/L) were 90.76% and 94.70% respectively, and the AUC was 0.9839(95%CI: 0.9772-0.9905). Conclusions Mchr can serve as a potential clinical marker for screening IDA and its severity. Its combination with iron metabolism indicators adds diagnostic value for IDA, providing a strong basis for whether further invasive diagnosis is needed. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Gene mutations and their relationship with clinical features in 100 patients with myelodysplastic syndrome ZHU Weiwei, LI Qian, WU Fan, ZHAI Zhimin Journal of Diagnostics Concepts & Practice    2024, 23 (03): 305-312.   DOI: 10.16150/j.1671-2870.2024.03.008 Abstract （333）   HTML （10）    PDF（pc） （1528KB）（210）       Knowledge map    Save Objective To investigate the correlation between gene mutations and clinical features, prognosis, and the risk of acute myeloid leukemia (AML) transformation in patients with myelodysplastic syndrome (MDS). Methods We retrospectively analyzed clinical data from 100 MDS patients and next-generation sequencing（NGS） was employed to identify 34 MDS-associated gene mutations across all patients. The mutation rates and distributions were analyzed to assess the correlation of high-frequency mutations (≥10%) with clinical features, prognosis, and the risk of AML progression. Results NGS identified 32 types of gene mutations across the cohort, with 84% of patients harboring at least one mutation. Mutations were most frequently observed in the MDS-MLD subtypes (39.3%) and predominantly in patients aged ≥60 years（82.8%，53/64）. The ASXL1 gene exhibited the highest mutation ratio (26%), with TET2, U2AF1, DNMT3A, RUNX1, TP53, and SF3B1 also showing incidence higher than 10%. ASXL1 frequently co-mutated with RUNX1 and with TP53 exclusion. It revealed that higher percentages of bone marrow blasts were seen in ASXL1-positive patients, lower platelet counts in U2AF1-positive patients, and a greater prevalence of DNMT3A mutations in elderly patients (85.7%). RUNX1 mutations were associated with elevated white blood cell counts, while TP53 mutations correlated with higher IPSS-R scores（6 vs 4.5）(P=0.016 )and elevated LDH levels（P=0.002）（420 U/L vs 222 U/L）, respectively. The median follow-up period was 18.6 months, and the median overall survival was 27.1 months, with TP53 mutations being an independent predictor for poor overall survival (OS). During follow-up, 15% of patients progressed to AML, with DNMT3A mutations identified as an independent risk factor for AML transformation（HR=3.73）. Conclusions Genetic mutations are prevalent in MDS and correlate with distinct clinical features. In this cohort of MDS patients, the mutation rate of MDS-related genes is 84%. TP53 mutations were associated with poor prognosis, whereas DNMT3A mutations are linked to an increased risk of AML transformation. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Construction of a biological laboratory safety education system characterized by national virtual simulation ex-periment teaching project (golden course) ZHAO Wei, ZHANG Qian, LUO Jianchuan, PU Chunlei, LI Xu, ZHOU Keqing, MO Qian Journal of Diagnostics Concepts & Practice    2024, 23 (03): 341-346.   DOI: 10.16150/j.1671-2870.2024.03.014 Abstract （192）   HTML （13）    PDF（pc） （7225KB）（202）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Study on the Bw11 subtype caused by the 695 T>C mutation in exon 7 of the ABO blood group gene ZHOU Lihua, SHEN Ru, QU Kexuan, WANG Aihua, CHEN Youhui, YUAN Zhimin Journal of Diagnostics Concepts & Practice    2024, 23 (04): 392-397.   DOI: 10.16150/j.1671-2870.2024.04.007 Abstract （166）   HTML （7）    PDF（pc） （3257KB）（181）       Knowledge map    Save Objective To identify the rare ABO*BW.11/ABO*O.01.02 subtype in the Yi ethnic group in China, and to investigate the blood group serological characteristics, molecular mechanisms, and genetic background of the ABO*BW.11/ABO*O.01.02 subtype. Methods The proband was a 25-year-old pregnant woman, with ABO typing discre-pancy in routine tests on admission. Due to the inability to accurately identify the conventional ABO blood serology, exons 1-7 of the ABO gene were analyzed by sequencing using the Sanger method, and the effect of the mutation at this site on the structure and function of B glycosyltransferase was predicted using the amino acid series homology modelling of wild-type B glycosyltransferase. Results The blood group serological results of the proband and lineage were inconsistent with the typical B subtype. ABO gene sequencing unveiled a c.695T>C missense mutation in exon 7 of the ABO blood group gene in the 7 probands and family members in 4 generations, leading to the substitution of leucine by proline at position 232 of the B glycosyltransferase. Homology modeling showed that the mutation influenced the peptide and hydrogen bonds of the protein, which probably led to structural and functional alterations, diminished B-glycosyltransferase activity, and weakened expression of the B antigen. Conclusions This proband carries a point mutation in the ABO allele in exon 7 c.695T>C.P.leu 232 Pro to form the ABO*BW.11/ABO*O.01.02 subtype, and is stably inherited in multiple members of this family. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Current status and challenges of diagnosis and treatment of hyperthyroidism in China LI Jing, SHAN Zhongyan Journal of Diagnostics Concepts & Practice    2024, 23 (04): 347-353.   DOI: 10.16150/j.1671-2870.2024.04.001 Abstract （475）   HTML （20）    PDF（pc） （1021KB）（150）       Knowledge map    Save In China, the clinical prevalence of hyperthyroidism is 0.78%, subclinical hyperthyroidism is 0.44%, and Graves' disease hyperthyroidism is 0.53%. Untreated hyperthyroidism and subclinical hyperthyroidism may increase the risk of atrial fibrillation, stroke, and other cardiovascular events, as well as osteoporosis and fractures. In special populations (such as pregnant women and the elderly), both the diagnosis and treatment of hyperthyroidism require special conside-rations. Although China has made some progress in the standardized diagnosis and treatment of hyperthyroidism, challenges remain. Despite established guidelines for diagnosis and differential diagnosis, clinical practice faces obstacles, notably due to limited access to thyroid radionuclide imaging and 131 iodine uptake rate in some hospitals. Additionally, the peak systolic velocity (PSV) in the thyroid obtained by thyroid ultrasound is not widely adopted. While clinical treatment methods align with international standards in China, there is a lack of specific guidelines on the initial dose and dose adjustment during the reduction period of antithyroid drugs (ATD). Currently, most clinicians follow the initial dose regimen re-commended by the guidelines established by the American Thyroid Association. Furthermore, indicators in both domestic and international guidelines for predicting adverse reactions to ATD remain unclear. During the ATD treatment of hyperthyroidism, the incidence of transient neutropenia is 1%-5%, and follow-up of baseline blood routine and liver function is ne-cessary. At present, there is a lack of monitoring frequency regulations and high-quality evidence-based medical support for above indice, and clinical practice has not yet established feasible indicators for predicting ATD adverse reactions. ATD-induced agranulocytosis is related to genetic susceptibility, age, drug type and dosage. HLA-B*27:05, HLA-B*38:02 and HLA-DRB1*08:03 on chromosome 6 in Chinese Han population may be susceptibility genes. Progress has been made in the diagnosis and treatment of thyroid associated ophthalmopathy (TAO) in China, with 36.7% of doctors adopting a multidisciplinary approach. Due to accessibility issues, less than 10% of patients receive biological agents to treat TAO, which is significantly lower than that in Western countries. Given these current status and challenges in China, further measures are necessary to improve the diagnosis and treatment of hyperthyroidism. Reference | Related Articles | Metrics | Comments（0）