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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 （2051）   HTML （64）    PDF（pc） （3009KB）（4813）       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 （626）   HTML （24）    PDF（pc） （1021KB）（209）       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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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 （599）   HTML （14）    PDF（pc） （932KB）（1393）       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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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 （460）   HTML （22）    PDF（pc） （925KB）（361）       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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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 （433）   HTML （17）    PDF（pc） （1282KB）（660）       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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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 （429）   HTML （20）    PDF（pc） （1012KB）（1097）       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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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 （411）   HTML （16）    PDF（pc） （1201KB）（707）       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 the study of indications for thermal ablation therapy of thyroid nodules YANG Yixuan, ZHOU Jianqiao Journal of Diagnostics Concepts & Practice    2024, 23 (04): 424-429.   DOI: 10.16150/j.1671-2870.2024.04.011 Abstract （401）   HTML （9）    PDF（pc） （1655KB）（39）       Knowledge map    Save Thyroid nodules, a common endocrine tumor, have shown a significant increase in incidence globally. The total incidence rate of thyroid nodules worldwide is about 25% from 2000 to 2022, of which the incidence of malignant thyroid nodules is 4.0% to 6.5%. In recent years, the application of thermal ablation technology in the treatment of thyroid nodules has been steadily increasing, with broader indications and fewer contraindications. Thermal ablation techniques have been widely applied in the treatment of benign thyroid nodules. Studies have demonstrated that radiofrequency ablation (RFA) and microwave ablation (MWA) significantly reduce nodule volume and alleviate symptoms. For retrosternal thyroid nodules, the post-treatment volume reduction rate exceeds 90%. For calcified benign nodules, a five-year follow-up showed an average volume reduction rate of 92.95%. Studies on follicular tumors indicated that more than half of the nodules achieved a 90%-volume reduction one year after thermal ablation, with a low incidence of complications in the treatment group. In the treatment of malignant thyroid tumors, thermal ablation has shown promising results in T1aN0M0 solitary low-risk papillary thyroid microcarcinoma (PTMC), with a disease progression rate as low as 3.6%. For T1bN0M0-T2N0M0 primary solitary papillary thyroid carcinoma (PTC), the prognosis following thermal ablation is comparable to surgery, with a lower incidence of complications. In patients with multifocal PTC, the success rate of thermal ablation was 100%, with a low rate of local tumor progression during follow-up. For PTMC located in the isthmus, adjacent to the trachea, or close to the thyroid capsule, thermal ablation demonstrated similar efficacy to surgery, with lower rates of complications and recurrence. This review summarizes the current indications of thermal ablation technology in the treatment of thyroid nodules and provides a reference for clinical applications. Table and Figures | 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 （379）   HTML （39）    PDF（pc） （1154KB）（1086）       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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Application and evaluation of flipped classroom combined with CBL teaching method in the teaching of neurological physical examination ZHI Nan, YAO Xiaoying, LI Yi, PAN Yuangmei, CAO Wenwei, WANG Gang Journal of Diagnostics Concepts & Practice    2024, 23 (05): 557-560.   DOI: 10.16150/j.1671-2870.2024.05.014 Abstract （332）   HTML （4）    PDF（pc） （935KB）（234）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Research progress in genetic epidemiology of psoriasis in Chinese population CHEN Weiwei, SUN Liangdan Journal of Diagnostics Concepts & Practice    2024, 23 (06): 561-567.   DOI: 10.16150/j.1671-2870.2024.06.001 Abstract （332）   HTML （22）    PDF（pc） （901KB）（72）       Knowledge map    Save In 1984, the epidemiological survey in China suggested that the prevalence of psoriasis was 0.123 %. By 2008, a survey across six provinces and cities in China showed an increase in prevalence rate to 0.47 %. In comparison, the prevalence in European and American countries ranged from 2% to 4%. Psoriasis is a complex multi-gene genetic disease. In China, 31.26 % of psoriasis patients have a family history. The prevalence of psoriasis among first-degree and second-degree relatives of probands is 7.24% and 0.95%, respectively. The heritability is 67.04% for first-degree relatives and 46.59% for second-degree relatives, showing a trend of decreasing heritability with the increase of genetic coefficient. More than 100 susceptibility gene loci of psoriasis have been identified globally, many of which are associated with immune system-related gene variations. Approximately 38% of these loci are found in the Chinese population. Genetic linkage analysis suggests that the interleukin (IL)-15 gene is a susceptibility gene for psoriasis in Chinese individuals. Genome-Wide Association Studies (GWAS) identified multiple susceptibility gene loci associated with psoriasis. The LOC144817, RUNX1, COG6, and TP63 genes were identified in the multi-center and multi-ethnic meta-analysis. Chinese populations exhibit different allele frequencies in the HLA-I region compared to Western populations. This genetic heterogeneity suggested that different pathogenesis and therapeutic targets might exist across different populations. Researchers found multiple susceptibility loci with specific population effects, which further emphasized the importance of independent research in different populations. With the continuous discovery of susceptibility genes, an important future direction of research will be how to translate these findings into clinical applications, such as personalized treatment and drug development. Reference | Related Articles | Metrics | Comments（0）

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Advances in study on risk factors related to cerebral microbleeds and on treatment decision-making when cerebral microbleeds merging related diseases ZHAO Lijuan, CHENG Tao, SHUI Xinjun, YUE Dongqi, QIN Shaochen, LIU Xiaoling, WANG Jiali, FU Yi Journal of Diagnostics Concepts & Practice    2024, 23 (04): 430-438.   DOI: 10.16150/j.1671-2870.2024.04.012 Abstract （327）   HTML （10）    PDF（pc） （1061KB）（156）       Knowledge map    Save Cerebral microbleeds， belongs to the category of cerebral small blood vessel disease， is a vascular lesion of subcortical or deep brain tissue caused by a variety of risk factors. In recent years, with the development of imaging and the wide use of antithrombotic drugs, the detection rate of cerebral microbleeds has gradually increased. Although mostly regarded as asymptomatic, cerebral microbleeds may increase the risk of cognitive dysfunction, hemorrhagic transformation after cerebral infarction, cerebral hemorrhage, etc. It is of great significance to summarize the progress of the epidemiology and related risk factors of cerebral microbleeds. Risk factors for cerebral microbleeds include genetic factors (ApoE ε4 gene (OR=2.54), NOTCH3 mutation, homozygous mutation in HTRA 1 gene, Fabry disease), advanced age and male (P=0.043), smoking (OR=5.791) and alcohol consumption (OR=7.306), hypertension (OR=1. 049), diabetes (P=0.005), dyslipidemia (P<0.05), cerebral amyloid angiopathy (OR=2.210), hyperhomocysteemia (P<0.05), hyperuricemia (OR:1. 98), renal dysfunction and dialysis (P=0.0041), critical illness (60% of patients had cerebral microhemorrhage after ECMO). Other rare risk factors include cardiac surgery, infective endocarditis, reversible posterior encephalopathy syndrome, moyamoya disease, obstructive sleep apnea syndrome, craniocerebral radiotherapy, and traumatic brain injury can all lead to the occurrence of cerebral microbleeds. At present, age, hypertension and ApoE gene polymorphism are specific risk factors for cerebral microhemorrhage. Whether other risk factors has not reached the overwhelming consensus. Cerebral microbleeds does not require treatment, but in clinical practice, patients with cerebral infarction or atrial fibrillation combined with cerebral microbleeds should be carefully considered. For patients with ischemic stroke/TIA complicated with cerebral microbleeds, antiplatelet therapy is still beneficial, and cerebral microbleeds should not be a contraindication to intravenous thrombolysis (intravenous thrombolysis, IVT) or endovascular treatment (endovascular therapy, EVT). However, for patients with high-load (>10) cerebral microbleeds, even with the IVT/EVT treatment indications, the pros and cons should also be weighed according to the patient's specific situation. For patients with atrial fibrillation complicated with cerebral microbleeds, when the number of cerebral microbleeds is larger or lesions located in the cortical areas, and the risk of cerebral microbleeds is higher, safer new anticoagulants are recommended. At present, there is no consensus between the domestic and foreign medical circles on the risk factors of cerebral microbleeds and the treatment plan and individualized intervention of ischemic stroke combined with cerebral microbleeds, and large-scale clinical studies are still needed for further exploration. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Analysis of clinical and laboratory characteristics of six cases with T-cell large granular lymphocytic leukemia LU Hongyu, LIU Hong, SONG Luxi Journal of Diagnostics Concepts & Practice    2024, 23 (06): 612-618.   DOI: 10.16150/j.1671-2870.2024.06.008 Abstract （301）   HTML （5）    PDF（pc） （1186KB）（260）       Knowledge map    Save Objective This paper aims to analyze and summarize the clinical and laboratory characteristics of patients with T-cell large granular lymphocytic leukemia (T-LGLL) and explore the diagnosis and treatment of T-LGLL. Methods A retrospective analysis was conducted on the clinical data of 6 T-LGLL patients treated at our hospital from March 2019 to December 2022. The cell morphology, bone marrow cell immunophenotyping, genetic testing results, and treatment plans were analyzed and summarized, with follow-up conducted. Results The median age at diagnosis of the 6 T-LGLL patients was 60 (range 54-70) years. All 6 patients presented with anemia at the time of consultation, with 3 requi-ring blood transfusion, 3 having splenomegaly, and 1 having lymphadenopathy. Peripheral blood LGL morphology was typical in all 6 cases, but with low absolute counts. The median count was 1.0 (range 0.4-1.4) × 109/L. Bone marrow cell immunophenotyping showed that all patients’ LGL cells originated from post-thymic mature T cells. 4 patients expressed the common CD3+CD8+CD57+ effector T-cell markers, while 2 expressed the rare CD3+CD8+CD57- memory T-cell markers. Genetic testing revealed monoclonal fragments in the T cell receptor (TCR) of all 6 patients, supporting the clonal abnormality. The next generation gene sequencing results showed STAT3 mutations in 4 of the 6 patients. All 6 patients received immunosuppressive therapy, and follow-up revealed that 5 patients responded to the treatment and 5 out of 6 patients achieved continuous hematological remission. Conclusions The diagnosis of T-LGLL cannot be accurately and early made solely based on typical cell morphology and absolute LGL counts. Additionally, there are significant variations in LGL immunophenotypes. Therefore, an integrated multi-parameter diagnostic approach combining morphology, immunophenotyping, TCR clonal analysis, and molecular biology data from next-generation sequencing is recommended. Currently, immunosuppressive therapy shows good treatment response. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Advances in research of radiomics and metabolomics in acute pancreatitis ZHONG Jingyu, DING Defang, XING Yue, HU Yangfan, ZHANG Huan, YAO Weiwu Journal of Diagnostics Concepts & Practice    2024, 23 (04): 445-451.   DOI: 10.16150/j.1671-2870.2024.04.014 Abstract （295）   HTML （8）    PDF（pc） （1050KB）（355）       Knowledge map    Save Acute pancreatitis (AP) is an acute abdominal disease that is prone to organ dysfunction, with high mortality. Timely prediction of the occurrence and development trend of the disease is the prerequisite for early treatment and intervention. Radiomics can extract quantitative features from medical images with high throughput and realize deep data mining. It can be used for the diagnosis of acute pancreatitis and prediction of severity, progression and recurrence of the disease. For the diagnosis of AP, CT radiomics can distinguish recurrent AP patients from functional abdominal pain, chronic pancreatitis, and recurrent AP patients, with an area under curve (AUC) of 0.88. For predicting AP recurrence, CT radiomics can accurately predict AP recurrence within 48 months, with an AUC of 0.93. For predicting the severity of AP, MRI radiomics can predict whether AP patients will progress to moderate to severe AP in the future, with an AUC of 0.85, which is better than clinical scoring systems. For predicting complications and progression of AP, MRI radiomics can effectively predict the occurrence of peripancreatic necrosis, with an AUC of 0.92. Metabolomics has confirmed that metabolic spectrum changes dynamically during the occurrence and development of AP. It has been reported that active metabolites can be used as early warning indicators for the diagnosis, etiology identification and severity assessment of AP. In addition, urinary metabolomics allows accurate diagnosis of AP, with an AUC of 0.91. For identifying the etiology of AP, the blood metabolomics models can identify patients with biliary AP, hyperlipidemic AP, and alcoholic AP, with AUCs of 0.89, 0.91, and 0.86, respectively. For predicting the severity of AP, the blood metabolomics models can accurately predict whether AP patients will progress to moderate to severe AP in the future, with an AUC of 0.99. The combination of the radiomics and metabolomics can complement each other's advantages and integrate multi-group data, which can jointly characterize the process and internal connections of disease occurrence and development from different levels, for achieving early warning and early intervention more effectively. Reference | Related Articles | Metrics | Comments（0）

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A Mendelian randomized study on the correlation between 91 inflammatory protein levels and the risk of acute myeloid leukemia AN Huihui, WU Tao, LIU Wenhui, TIAN Sirui Journal of Diagnostics Concepts & Practice    2024, 23 (05): 509-516.   DOI: 10.16150/j.1671-2870.2024.05.007 Abstract （289）   HTML （8）    PDF（pc） （1370KB）（29）       Knowledge map    Save Objective The study aims to analyze the correlation between circulating inflammatory proteins and the risk of acute myeloid leukemia (AML). Methods AML data were obtained from the FinnGen alliance as the outcome. The Genome-wide Association Studies (GWAS) data of 91 circulating inflammatory proteins were used as exposure factors. Mendelian randomization (MR) analysis was conducted to evaluate the effects of 91 circulating inflammatory proteins on the risk of AML. Inverse Variance Weighted (IVW) was used as the main analysis method, and the MR-Egger and Weighted Median (WM) methods were used to further strengthen the results. In addition, sensitivity analysis was used to evaluate the stability and reliability of the results. Results Among the 91 circulating inflammatory proteins, 8 were causally associated with the occurrence of AML (P<0.05). Specifically, higher levels of artemin (ARTN) (OR=0.458 3, 95% CI: 0.219 0-0.959 1), interleukin (IL)-2 receptor β (OR=0.2347, 95% CI: 0.094 1-0.585 3), sirtuin-2 (SIRT2) (OR=0.310 4, 95%CI: 0.138 0-0.698 2), and signal-transducing adaptor molecule binding protein (STAMPB) (OR=0.289 0, 95% CI: 0.104 9-0.796 1) were associated with a reduced risk of AML. In contrast, higher levels of CD6 (OR=3.269 3, 95% CI: 1.285 3-8.315 9), C-X-C motif chemokine ligand 5 (CXCL5) (OR=1.694 6, 95% CI: 1.013 4-2.833 6), IL-15 receptor α (OR=1.572 9, 95% CI: 1.050 0-2.344 8), and matrix metalloproteinase (MMP)-10 (OR=1.882 0, 95% CI: 1.061 4-3.337 1) were associated with an increased risk of AML. Sensitivity analysis using Cochran’s Q test (P>0.05) and MR-Egger regression test (P>0.05) showed no heterogeneity or pleiotropy in the single nucleotide polymorphisms (SNPs) of inflammatory proteins. Conclusions The Mendelian randomization study suggests that circulating inflammatory proteins ARTN, IL-2β, SIRT2, STAMPB, CD6, CXCL-5, IL-15α, and MMP-10 are causally associated with the risk of AML, which provides valuable insights for future research on the pathological mechanism of AML. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Research progress on tumor-educated platelets in the diagnosis of common clinical tumors GAO Quancheng, HUANG Hui Journal of Diagnostics Concepts & Practice    2024, 23 (05): 550-556.   DOI: 10.16150/j.1671-2870.2024.05.013 Abstract （284）   HTML （13）    PDF（pc） （884KB）（28）       Knowledge map    Save Platelets not only play a crucial role in normal hemostasis and coagulation, but they are also closely associated with the occurrence, development, and metastasis of malignant tumors. Platelets are rich in RNA, which can be translated into proteins to perform various functions. Tumor cells can influence the RNA expression profiles of platelets in multiple ways. Platelets with altered RNA expression profiles due to tumor influence are referred to as tumor-educated platelets (TEPs). Research on TEPs in tumor diagnosis primarily focuses on two key areas. The first is transcriptomic sequencing of TEP RNA, followed by the analysis of sequencing results using bioinformatics methods. By integrating deep machine learning, novel algorithms and diagnostic models are developed to differentiate between cancer and non-cancer cases. The second area focuses on the expression levels of specific mRNA, microRNA, snRNA, snoRNA, and lncRNA in TEPs. The expression levels are analyzed and compared with non-cancer groups to evaluate their diagnostic efficacy. Currently, TEPs demonstrate significant diagnostic value in common clinical tumors such as lung cancer, liver cancer, breast cancer, ovarian cancer, and glioblastoma. Based on changes in the TEP mRNA profile, bioinformatics analysis shows an accuracy of 88%-91% for lung cancer diagnosis. Elevated mRNA expression of platelet ITGA2B in lung cancer patients results in an area under the curve (AUC) of 0.922, with a threshold value of 0.001759. TEP miRNA-122 levels are significantly elevated in liver cancer patients. At an optimal cutoff value of 4.46, its diagnostic performance achieves a sensitivity of 100.0% and a specificity of 93.3%. miRNA-21 also shows promising diagnostic performance. Bioinformatics analysis of platelet RNA profiles reveals that the TEP mRNA expression profile has an AUC of 0.72 and a sensitivity of 91% in distinguishing breast cancer patients from non-cancer patients. The ovarian cancer diagnostic model, TEPOC, based on 102 platelet RNAs, achieves an AUC of 0.93, outperforming CA125. The TEP mRNA expression profile distinguishes glioblastoma (GBM) from other brain metastases, multiple sclerosis patients, and healthy individuals, with AUCs of 0.84, 0.94, and 0.97, respectively. Due to platelets’ large amount, their ease of isolation, and their high diagnostic efficacy, TEPs show great promise as ideal biomarkers for tumor liquid biopsy, paving the way for clinical application. Reference | Related Articles | Metrics | Comments（0）

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Value of novel sponge capsules combined with AI-based cell DNA detection in early esophageal cancer screening XU Mengdi, GAO Feng, ZHU Jian, CHEN Lei, QIN Yumeng, HUANG Yue, TANG Yinping, SHA Jie Journal of Diagnostics Concepts & Practice    2024, 23 (06): 580-586.   DOI: 10.16150/j.1671-2870.2024.06.004 Abstract （284）   HTML （11）    PDF（pc） （1157KB）（97）       Knowledge map    Save Objective To explore the value of novel sponge capsules combined with AI-based cell DNA detectio in early esophageal cancer screening. Methods From June 2021 to June 2022, subjects aged >40 years who were willing to undergo esophageal cancer screening were recruited. Firstly, the subjects underwent a novel sponge cell capsule examination to collect cell specimens. Then the cytological DNA index (DI) was assessed using artificial intelligence (AI). Subsequently, all subjects underwent endoscopy. The relationship between cytologic DI values and endoscopic findings was evaluated. Results A total of 1 369 participants were enrolled. There were 25 cases of esophageal lesions confirmed by endoscopy, including 15 cases of low-grade intraepithelial neoplasia, 1 case of high-grade intraepithelial neoplasia, and 9 cases of esophageal cancer. There were 1 344 cases in the normal esophagus group. DI was 2.154 ± 0.339 in the normal group and 2.832 ± 0.479 in the lesion group. The DI value of the esophageal lesion group was significantly higher than that of the normal esophageal group, and the difference was statistically significant. Logistic regression analysis showed that the odds ratio (OR) of DI values between the esophageal lesion group and the normal esophagus group = 0.04 (95% CI: 0.017-0.096). The sponge capsules combined with DI value diagnosed esophageal lesions with an area under the ROC curve of 0.914, an optimal critical value of 2.450, a specificity of 83.71%, a sensitivity of 88.00%, and an accuracy of 83.78%. Conclusions The novel sponge capsules DI test can be used for screening of early esophageal cancer, and this method should be promoted in clinical practice. 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 （283）   HTML （7）    PDF（pc） （3257KB）（352）       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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Study on clinicopathological features and prognosis of HER2 low expression breast cancer RUAN Miao, DA Qian, XU Haimin, DONG Lei, FEI Xiaochun Journal of Diagnostics Concepts & Practice    2024, 23 (05): 500-508.   DOI: 10.16150/j.1671-2870.2024.05.006 Abstract （274）   HTML （7）    PDF（pc） （4019KB）（141）       Knowledge map    Save Objective This study explores the clinicopathological features and prognosis of breast cancer with low expression of human epidermal growth factor receptor 2 (HER2), and analyzes the main factors that influence the consistency of HER2 immunohistochemical interpretation. Methods A total of 237 cases of consecutive invasive breast cancer diagnosed and treated in this center from September 2021 to June 2022 were collected. The HER2 immunohistochemical interpretation results of all previous cases were reviewed by two breast specialist pathologists respectively. The HER2 results were divided into HER2 negative group, low expression group, and positive group. The clinicopathological features and prognosis of HER2 low expression breast cancer were compared with those of the other two groups. Results The perfect concordance rate between the interpretation results of the two pathologists and the previous results was 78.9% (187/237). Nearly half of the cases with inconsistent interpretations (48.0%) were caused by borderline expression and tumor heterogeneity. Compared with the HER2 negative (n=49) and HER2 positive (n=75) groups, patients with HER2 low expression breast cancer (n=113) were mainly grade 2 histological classification (P=0.045 and <0.001, respectively), a significantly higher proportion of ER and PR positivity (84.1% and 77.9%, respectively, both P≤0.001), and were mainly classified as Luminal B and Luminal A molecular subtypes (54.0% and 30.1%, respectively). However, after adjusting the ER status, there was no statistical difference in all clinicopathological parameters between HER2 low expression and negative groups, including patient age, histological type and grade, tumor size, lymph node metastasis, vascular invasion, Ki-67 index, and molecular subtypes. The median follow-up time of this study was 26 months. Survival analysis showed that, regardless of whether ER status was adjusted, there was no statistically significant difference in disease-free survival (DFS) between HER2 low expression and negative groups of breast cancer patients. Conclusions Compared with HER2 negative breast cancer, the difference in clinicopathological features of HER2 low expression breast cancer is mainly caused by hormone receptor status, and there is no significant difference in short-term prognosis between the two， and borderline expression and intratumor heterogeneity are major factors affecting the consistency of HER2 interpretation. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Study on the risk factors for persistent infection of high-risk human papillomavirus after cervical conization FU Xina, XU Xin, LI Tianjie, JIN Ying Journal of Diagnostics Concepts & Practice    2024, 23 (04): 416-423.   DOI: 10.16150/j.1671-2870.2024.04.010 Abstract （271）   HTML （12）    PDF（pc） （1060KB）（175）       Knowledge map    Save Objective To analyze the risk factors of persistent infection of high-risk human papillomavirus (HR-HPV) after cervical conization, so as to identify the high-risk population of residual and recurrent cervical lesions after cervical conization. Method A total of 467 patients with one more HR-HPV infection and underwent cervical conization in the outpatient clinic and ward of our hospital from January 1,2017 to May 31,2022 were collected. After cervical conization,HR-HPV-positive patients within 6 months were included in the HR-HPV persistent infection group, and HR-HPV-negative patients were included in the HR-HPV clearance group. The differences in age, menopausal status, preoperative HR-HPV infection, preoperative thinprep cytologic test (TCT), pathological grade of cervical biopsy, conization margin status, glandular involvement, and conization surgery were compared between the two groups. Among them, the age difference was processed by rank sum test, and other indicators were compared by chi-square test. Multivariate Logistic regression analysis was used to find the high risk factors for HR-HPV persistent infection after cervical conization. Result The HR-HPV clearance rate was 64.0% within 6 months after cervical conization. Patients with age ≥ 46 years old (P<0.001 ), menopause (P<0.001), preoperative infection of any type of HPV 16, HPV 52 or HPV 58 (P=0.002), preoperative multiple HPV infection (P<0.001), preoperative TCT < high grade squamous intraepithelial lesion (HSIL) (P=0.005), cervical biopsy pathology < HSIL (P=0.020), unclean margin (P=0.003), gland involvement (P=0.008) or loop electrosurgical excision procedure (LEEP) (P<0.001), had a higher probability of HR-HPV persistent infection after cervical conization. Multivariate Logistic regression analysis showed that menopause (OR=3.453, P<0.001), preoperative HR-HPV multiple infection (OR=2.683, P<0.001), preoperative TCT < HSIL (OR=1.884, P=0.015), unclean margin (OR=1.479, P=0.048) and LEEP (OR=2.330, P=0.013) were independent risk factors for HR-HPV persistent infection after cervical conization.The residual and recurrence rate of cervical lesions at 6-24 months after conization was 12.2%. Compared with HR-HPV clearance group, HR-HPV persistent infection group had a higher rate of residual and recurrent cervical lesions at 6-24 months after cervical conization (28.6% vs 3.0%, χ2=65.585, P<0.001), and the risk of HSIL was also higher (Fisher test, P=0.027). Conclusions In this study, a large sample size is included, and menopause, preoperative HR-HPV multiple infection, preoperative TCT < HSIL, unclean margin, and LEEP are identified as high-risk factors for HR-HPV persistent infection after cervical conization, and a higher risk of residual and recurrent cervical lesions (especially HSIL lesions) after cervical conization. Table and Figures | Reference | Related Articles | Metrics | Comments（0）