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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 （13430）   HTML （958）    PDF（pc） （3340KB）（9841）       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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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 （1600）   HTML （43）    PDF（pc） （945KB）（2486）       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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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 （1513）   HTML （33）    PDF（pc） （923KB）（877）       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 （1374）   HTML （75）    PDF（pc） （1106KB）（2668）       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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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 （1181）   HTML （21）    PDF（pc） （960KB）（286）       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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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 （996）   HTML （17）    PDF（pc） （935KB）（768）       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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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 （889）   HTML （18）    PDF（pc） （1728KB）（746）       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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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 （769）   HTML （12）    PDF（pc） （939KB）（185）       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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CONTENTS Journal of Diagnostics Concepts & Practice    2024, 23 (03): 0-0.   Abstract （538）      PDF（pc） （9873KB）（77）       Knowledge map    Save Related Articles | Metrics | Comments（0）

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Journal of Diagnostics Concepts & Practice    2024, 23 (03): 284-284.   Abstract （510）      PDF（pc） （702KB）（38）       Knowledge map    Save Related Articles | Metrics | Comments（0）

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Advances in interventional magnetic resonance imaging and its clinical applications FENG Yuan, HE Zhao, SUN Qingfang, SUN Bomin, YAN Fuhua, YANG Guangzhong Journal of Diagnostics Concepts & Practice    2024, 23 (02): 108-113.   DOI: 10.16150/j.1671-2870.2024.02.002 Abstract （507）   HTML （23）    PDF（pc） （970KB）（601）       Knowledge map    Save Interventional therapy has been widely used in surgeries involving neurology, vasculature, and breasts.Image-guided, robot-assisted interventional therapy significantly enhances surgical precision and safety, emerging as a critical trend in modern interventional surgery. Among various interventional imaging methods, interventional magnetic resonance imaging (i-MRI) stands out due to its excellent soft tissue differentiation, diverse imaging contrasts, ability to yield quantitative data, and no ionizing radiation. However, the challenges facing MRI-guided therapy include the relatively low speed of imaging and the stringent compatibility demands of interventional devices. Advance in the rapid i-MRI techniques and MR-compatible equipment have propelled i-MRI to a pivotal role in clinical applications, encompassing neurological, cardiovascular, prostate, and breast interventions. This review initially provides an overview of the current i-MRI landscape. It then consolidates the application of i-MRI in multiple medical interventions, offering illustrative examples. The article further delves into the obstacles posed by i-MRI, specifically slow imaging speed and the delicate spatiotemporal resolution balance. Ultimately, it envisages the growth potential of i-MRI in multimodal imaging, real-time MRI, and i-MRI-guided interventional robotic surgery. 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 （421）   HTML （25）    PDF（pc） （3009KB）（640）       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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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 （383）   HTML （16）    PDF（pc） （1021KB）（120）       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）

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Advances in study on the diagnosis and treatment of small intestinal diseases in 2023 ZHANG Shuowen, GU Yubei Journal of Diagnostics Concepts & Practice    2024, 23 (02): 119-125.   DOI: 10.16150/j.1671-2870.2024.02.004 Abstract （371）   HTML （23）    PDF（pc） （964KB）（1040）       Knowledge map    Save In 2023, multiple important discoveries and breakthroughs have been made in the field of small intestine diseases, and database-based global epidemiological study on small intestinal cancer was first released. It showed that the global incidence rate of small intestinal cancer in 2020 was 0.6/100 000, which was on an upward trend compared with the average incidence rate from 2010 to 2020 (average annual change percentage in different continents, 2.20% to 21.67%). The burden of small intestinal cancer was geographic disparity, and age-standardized incidence rate (1.4/100 000) was highest in North America. The incidence rate of small intestinal cancer in China was 0.32/100 000 for men and 1.95/100 000 for women. Risk factors for small bowel cancer (β = 0.008 to 0.198; OR = 1.07 to 10.01) included higher human development index and gross domestic product; smoking and drinking habits; lack of exercise, obesity, diabetes, and lipid metabolism disorders; history of inflammatory bowel diseases. Therapeutically, the combined use of sulindac and erlotinib has been effective in reducing the polyp burden in patients with familial adenomatous polyposis. For Crohn’s disease in the small intestine, in terms of software, AI-assisted endoscopic recognition has been proven to reduce misdiagnosis ，improving medical quality. In terms of hardware, the electric spiral enteroscopy is a double-edged sword. Although it has a higher rate of completing entire small intestine examination, it cannot be widely used in clinical practice until its safety is fully guaranteed. In terms of drugs, with the in-depth understanding of the pathogenesis of the disease, targeted therapy for the inflammatory process has gradually become a research hotspot. Clinical data on small-molecule agents such as upadacitinib and filgotinib are continuously accumulating. In terms of surgery, the latest evidence supports that surgery may become a first-line treatment for specific Crohn’s disease. The diagnosis and treatment of small intestine bleeding are also continuously improving. Thalidomide, as a drug used to treat small intestine bleeding caused by capillary malformations, has brought good news to a large number of patients. In addition, the surgical treatment for small intestine obstruction is gradually being updated, and there are now more accurate prediction models for treatment decisions in patients with small intestine obstruction. Looking ahead, with the continuous development and innovation of medical technology, and artificial intelligence, the diagnosis and treatment of small intestinal diseases will become more precise and efficient. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Application of Fourier transform attenuated total reflectance infrared spectroscopy in clinical hematology examination WU Xinyu, ZHANG Lucheng, LI Yongqing Journal of Diagnostics Concepts & Practice    2024, 23 (03): 335-340.   DOI: 10.16150/j.1671-2870.2024.03.013 Abstract （339）   HTML （7）    PDF（pc） （974KB）（59）       Knowledge map    Save Attenuated total reflectance Fourier transform infrared (ATR-FTIR) spectroscopy shows great potential for biomedical applications, especially in clinical hematology, due to its rapid, accurate, and non-invasive nature. The technique captures molecular vibrational spectra, yielding detailed chemical information of nucleic acids, proteins, and lipids in biological samples critical for disease screening and diagnosis. Extensive research demonstrates the efficacy of ATR-FTIR in diagnosing diseases, such as thalassemia, AIDS, breast cancer, ovarian cancer, and brain tumors. Combining ATR-FTIR with chemometrics enables accurate disease screening and differential diagnosis. ATR-FTIR spectroscopy combined with partial least squares regression model was used to quantitatively analyze thalassaemia screening indices in human peripheral blood samples，such as mean erythrocyte haemoglobin content, mean erythrocyte volume and haemoglobin, and the sensitivity and specificity of screening reached 100.0% and 95.3%, respectively. ATR-FTIR spectroscopy combined with linear discriminant analysis method based on genetic algorithm were used to identify the characteristic peaks at 1,558 cm-1 (amide Ⅰ band), 1,506 cm-1 (cyclic group) and 901 cm-1 (phosphodiester stretching band) in the blood samples of pregnant women, the sensitivity and specificity for diagnoding human immunodeficiency virus (HIV) infection was 89% and and 92%, respectively. In breast cancer, ATR-FTIR coupled with principal component regression （PCR） methods reached sensitivity and specificity of 92.3% and 87.1%, respectively. Furthermore, ATR-FTIR spectroscopy is applicable in other biomedical domains, such as detecting cellular and histological samples and classifying disease severity. Despite its promise, challenges like environmental interference and sample contamination persist. Future advancements and optimizations in ATR-FTIR spectroscopy are anticipated to enhance its role in clinical hematology and extend its applicability to a broader spectrum of diseases. Reference | Related Articles | Metrics | Comments（0）

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Advance in study on diagnosis of pancreatic cystic tumors on CT/MRI imaging GAO Meng, CHAI Weimin, YAN Fuhua Journal of Diagnostics Concepts & Practice    2024, 23 (02): 184-191.   DOI: 10.16150/j.1671-2870.2024.02.013 Abstract （327）   HTML （10）    PDF（pc） （3021KB）（288）       Knowledge map    Save Pancreatic cystic tumors (PCN) refer to cystic tumor lesions originating from the epithelium and/or interstitial tissue of the pancreatic duct. PCN can be roughly divided into mucinous tumors and non-mucinous tumors. The former mainly includes intraductal papillary mucinous neoplasms (IPMN) and mucinous cystic neoplasms (MCN), while the latter mainly includes serous cystic neoplasms (SCN) and solid-pseudopapillary neoplasms (SPN) and cystic neuroendocrine neoplasms (cNET). Different types of PCNs have differentiated biological behaviors, and some types of PCNs have a risk of developing a malignancy. Preoperative identification of PCN malignancy on CT and MRI imaging is of great significance. Malignant indications for MCN are surgical indications， such as a diameter greater than or equal to 4 cm. IPMN accounts for 22% of PCN, and the risk of malignancy in main pancreatic duct type and mixed type IPMN can reach up to 70.9% and 76.5%, while the risk of malignancy in branch pancreatic duct type IPMN is 2.8%-10.7%. High risk signs of malignancy for IPMN include enhanced parenchymal or diameter of parietal nodules ≥ 5 mm, main pancreatic duct dilation (≥ 10 mm), and obstructive jaundice, and surgical treatment is recommended for these patients. SCN is more common in middle-aged and elderly women, with a male to female ratio of 1:3. Serous cystadenocarcinoma is rare, accounting for only 0.1% of pancreatic SCN. The 2015 edition of the Diagnosis and Treatment Guidelines for Pancreatic Cystic Diseases recommends that all SPNs patients should undergo surgical treatment. When the tumor of SPN with incomplete capsule, the mass diameter larger than 6 cm, and the tumor located in the tail of the pancreas, may have a higher ability of invasiveness and distant metastasis. cNET accounts for approximately 7% of PCN. Imaging diagnosis should be combined with medical history and lesion components, etc. The diagnostic point for SPN on image is that MCN is a round, thick walled cystic tumor that almost exclusively occurs in females in the body and tail of the pancreas body, often presenting as an “intracystic cyst”. IPMN is more common in elderly men. The main pancreatic duct type of IPMN presents as diffuse or segmental dilation of the main pancreatic duct, excluding obstructive factors. Branch pancreatic duct type of IPMN usually presents as tubular cystic tumors that communicate with the pancreatic duct, while mixed type of IPMN combines both manifestations. SCN is a lobulated, thin-walled oligocystic or multicystic honeycomb tumor. SPN is a larger round cystic solid tumor that is more common in young women. cNET is a cystic solid tumor with significantly enhanced circular or crescent shaped edges. There is significant controversy in domestic and foreign guidelines regarding the selection of indications for PCN surgery, and pancreatic surgery is difficult with many postoperative complications, posing challenges to the standardized treatment of PCN. Identifying the imaging characteristics of PCN and clarifying imaging diagnosis has clinical significance. 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 （278）   HTML （8）    PDF（pc） （1528KB）（207）       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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Application and research progress of MRI deep learning image reconstruction technology in clinical diagnosis of musculoskeletal system diseases ZHA Yunfei, WU Xiaxia Journal of Diagnostics Concepts & Practice    2024, 23 (02): 114-118.   DOI: 10.16150/j.1671-2870.2024.02.003 Abstract （269）   HTML （10）    PDF（pc） （933KB）（427）       Knowledge map    Save Deep learning based reconstruction (DLR) technology is currently one of the most cutting-edge technological advancements in the field of MRI image reconstruction. Compared to conventional MRI image reconstruction techniques, DLR technology redefines a new boundary between signal-to-noise ratio, spatial resolution, and scanning time on MRI. Its outstanding technical advantage is the effective removal of image noise and artifacts, significantly reducing scanning time, and also has potential advantages in improving the detection rate and accuracy qualitative diagnosis of lesions. With the continuous optimization of algorithms and the improvement of model generalization, DLR has been widely used in MRI examinations for multiple parts, such as the nervous system, musculoskeletal system, and heart. Its applicable scanning sequences and clinical application scenarios are also constantly expanding. DLR technology, while maintaining the original spatial resolution, reduces the number of signal acquisition times and increases the parallel acquisition acceleration factor to shorten the imaging time by more than 50%, achieving rapid imaging of the musculoskeletal system, and obtaining significantly better image quality than traditional reconstructed images. Currently, DLR is widely used in MRI exa-minations of musculoskeletal systems, such as the knee, shoulder, wrist, and spine, and has demonstrated its outstanding performance in shortening imaging time, improving image signal-to-noise ratio and resolution. 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 （254）   HTML （5）    PDF（pc） （1052KB）（172）       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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Journal of Diagnostics Concepts & Practice    2024, 23 (03): 329-329.   Abstract （244）      PDF（pc） （702KB）（36）       Knowledge map    Save Related Articles | Metrics | Comments（0）