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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
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    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.

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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
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    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.

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    Analysis and interpretation of the 2022 Global Cancer Statistics Report: cancer burden and epidemiological trends in China and the world
    WU Qi, FAN Bonan, LI Yan
    Journal of Diagnostics Concepts & Practice    2025, 24 (02): 135-145.   DOI: 10.16150/j.1671-2870.2025.02.004
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    In February 2024, the International Agency for Research on Cancer (IARC) released the 2022 Global Cancer Statistics Report. In 2022, there were nearly 20 million new cancer cases and 9.7 million deaths. The report provides statistics on the incidence and mortality of 36 different types of cancer in 185 countries around the world, analyzing geographic, gender-based, and Human Development Index (HDI)-related differences. It also predicts the global burden of cancer disease by 2050. Demographic forecasts suggest that by 2050, the number of new cancer cases worldwide is expected to reach 35 million annually-an increase of 77% compared to 2022. Geographically, cancer incidence and mortality rates show significant regional disparities. In 2022, nearly half (49.2%) of the world's new cases and the majority (56.1%) of cancer deaths occurred in Asia. In terms of gender distribution, the overall cancer incidence and mortality rate among females were lower than those among males in 2022. With respect to HDI, the risk of developing cancer increases with higher HDI levels. In 2022, the top 5 newly diagnosed cancer cases worldwide are lung cancer, female breast cancer cancer, colorectal cancer, prostate cancer, gastric cancer in turn. There were nearly 2.5 million new lung cancer cases and over 1.8 million related deaths. Breast cancer in women accounted for 2.3 million new cases and nearly 670 000 deaths. Colorectal cancer, including anal cancer, had more than 1.9 million new cases and over 900 000 deaths. Prostate cancer recorded 1.5 million new cases and nearly 400 000 deaths. There were nearly 970 000 newly-diagnosed cases of gastric cancer and 660 000 related deaths. In China in 2022, lung cancer still ranks first in the cancer incidence spectrum in China, accounting for 22.0% of the total new cases of cancer in China. This proportion has further increased compared to 2018 data (17.9%), followed by colorectal cancer (10.7%), thyroid cancer (9.7%), liver cancer (7.6%), and gastric cancer (7.4%), which account for more than half of the total new cases in China (57.4%). This paper reviews the data sources and statistical methods used in the report, interprets the epidemiological trends of major cancer types, and analyzes the incidence and burden of major cancers prevalent in China, provi-ding an overview of their disease burden and epidemiological trends.

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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
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    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.

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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
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    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.

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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
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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
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    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.

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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
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    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.

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    Research progress on neurohumoral mechanism and clinical significance of vasovagal syncope
    LI Qiheng, XIE Yucai
    Journal of Diagnostics Concepts & Practice    2024, 23 (06): 628-633.   DOI: 10.16150/j.1671-2870.2024.06.011
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    Vasovagal syncope (VVS) is the most common type of syncope in clinical practice, primarily caused by the excessive response of the autonomic nervous system to external stimuli, leading to vasodilation and bradycardia, and consequently reduced whole brain perfusion. At present, the pathophysiological mechanism of VVS remains largely unknown, with neurohumoral regulation playing a significant role in it. Sympathetic Nervous System (SNS) plays a crucial role in the occurrence of VVS by regulating heart rate, blood pressure and vascular tone, especially in blood pressure regulation, postural changes, and stress response. The Renin-Angiotensin-Aldosterone System (RAAS) maintains blood volume and blood pressure stability by regulating vasoconstriction and sodium and water retention. Nitric oxide (NO) and hydrogen sulfide (H2S) secreted by vascular endothelial cells as vasodilator factors, and Endothelin (ET) as vasoconstrictor factors, are involved in regulating vascular tone. Neurotransmitters such as 5-hydroxytryptamine (5-HT) and galanin also play a key role in the occurrence of VVS. SNS and RAAS are involved in the occurrence of VVS. When the hemodynamics is still in a stable state, the plasma Epi and NE concentrations increase, and the Epi increment is much higher than NE, resulting in an increase in Epi/NE value. The significant β-adrenergic effect leads to peripheral vasodilation, venous blood flow accumulation, and progressive blood pressure decline, which is the most important pathophysiological mechanism leading to syncope. When hypotension occurs, the body compensatively secretes a large amount of AVP, and the significant increase of AVP concentration further leads to vasodilation, aggravates the decrease of blood pressure, and causes syncope. In the future, more accurate VVS drug development will become the focus. Using modern pharmacology and molecular biology techniques, drugs targeting specific neurohumoral mechanisms will be developed to achieve higher efficacy with fewer side effects. Additionally, the identification and validation of new biomarkers will drive advancements in early diagnosis and monitoring of treatment outcomes.

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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
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    Objective To explore the value of novel sponge capsules combined with AI-based cell DNA detection 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.

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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
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    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.

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    Application progress of BLUE and modified protocols in diagnosing and monitoring pulmonary lesions in EICU patients
    XU Pengyu, CHI Cheng, ZHANG Xiaoxia
    Journal of Diagnostics Concepts & Practice    2024, 23 (05): 542-549.   DOI: 10.16150/j.1671-2870.2024.05.012
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    Lung ultrasound (LUS) has important application value in the diagnosis and treatment of patients in intensive care units because of its advantages of non-radiation, low cost, real-time imaging, bedside operability, and no risk of patient transport. LUS utilizes B-mode and M-mode imaging to assess pulmonary lesions, with LUS scoring used to quantify “B-lines” and evaluate the severity of lesions, providing a systematic and objective lesion evaluation system. Since 2008, the bedside lung ultrasonography in emergency (BLUE) protocol and its subsequent modified protocol, bedside lung ultrasonography in emergency -plus (BLUE-plus), introduced by French critical care physician Dr. Lichtenstein, have achieved significant success in assessing acute respiratory failure. The BLUE protocol distinguishes causes of dyspnea based on various ultrasound patterns, with a sensitivity of 97% and specificity of 95% for diagnosing cardiogenic pulmonary edema, and a sensitivity of 89% and specificity of 94% for diagnosing pneumonia. The BLUE-plus protocol, which includes scans of the posterior region, increases the sensitivity for diagnosing atelectasis and pulmonary consolidation to 95.71%, with a specificity of 87.50%. With indicators such as “pleural sliding” and “B-lines” in LUS, the sensitivity for diagnosing pulmonary edema can achieve 96%, far surpassing the 65% sensitivity of chest X-ray (CXR). Additionally, LUS can differentiate between cardiogenic and non-cardiogenic pulmonary edema. LUS shows a sensitivity of 92% for diagnosing pleural effusion and can estimate the volume of fluid. For lung consolidation, LUS shows a sensitivity of 80% to 90% and a specificity of 70% to 90%, significantly outperforming CXR, which has a sensitivity of 53% and a specificity of 78%. For pneumothorax, the diagnostic specificity of LUS is nearly 100%, and it allows semi-quantitative analysis. LUS demonstrates broad applications in treatment monitoring for critically ill patients. In the assessment of lung ventilation changes in mechanically ventilated patients, LUS can evaluate lung recruitment by detecting the transitions from “A-lines” to “B-lines” and then to “alveolar-interstitial patterns”. The LUS scores are highly correlated with computed tomography (CT) results (Rho=0.85, P<0.01). In volume management for critically ill patients, LUS can assess fluid overload by detecting “B-lines”. When combined with echocardiography, it can help determine whether the patient has volume responsiveness. For ventilator-associated pneumonia (VAP) and acute respiratory distress syndrome (ARDS), LUS not only assists in diagnosis but also in evaluating disease severity and treatment efficacy. However, the application of LUS still faces challenges related to operator skills and has certain limitations, including dependence on operator experience, limited depth of lung detection, and poor image quality in obese or post-thoracic surgery patients. Future integration with artificial intelligence technology is expected to further enhance the diagnostic accuracy and efficiency of LUS.

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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
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    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.

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    Research progress on effects of berberine on bone metabolism and related mechanisms
    BAI Mengyao, KONG Bo, YANG Lihui, LI Lijuan, SHI Yanqing, SUN Lihao
    Journal of Diagnostics Concepts & Practice    2024, 23 (06): 634-640.   DOI: 10.16150/j.1671-2870.2024.06.012
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    Osteoporosis is a common chronic disease in the elderly in China. With the acceleration of population aging, the prevalence of osteoporosis is gradually increasing. The prevalence of osteoporosis among people over 50 years old in China is 19.2%, and 32.0% for those over 65 years old. This not only results in an increasing number of elderly patients with fractures but also highlights the significant harm of osteoporosis due to the low awareness and treatment rate As a traditional Chinese medicine ingredient, berberine has been proven to be effective in treating a variety of chronic metabolic and inflammatory diseases, including diabetes, tumors, cardiovascular diseases, hyperlipidemia, inflammation, bacterial and viral infections, and osteoporosis. In terms of bone metabolism, berberine has shown certain improvements in both primary osteoporosis caused by menopause and secondary osteoporosis caused by multiple factors such as diabetes, obesity, and the use of glucocorticoids. Meanwhile, berberine has also shown strong bone regeneration ability in the study of bone defect repair under conditions of diabetes, local infection, and inflammation. Multiple in vivo and in vitro studies have shown that berberine can not only promote the differentiation and maturation of osteoblasts through classical signaling pathways such as Wnt/β‑catenin, PI3K/AKT, APK, and AMPK, but also effectively inhibit the differentiation and activity of osteoclasts by suppressing the RANKL signaling pathway. At the same time, berberine can also improve the oxidative stress state of tissues and regulate bone metabolism by regulating small non‑coding RNAs (miRNAs). This paper focuses on the mechanisms and research progress of berberine in osteogenesis and osteoclastogenesis, aiming to provide a reference for further in‑depth research on the mechanism of berberine in treating osteoporosis.

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    Study on the recognition of early-stage Parkinson’s disease patients using functional near-infrared spectroscopy signals based on machine learning
    YU Jin, WANG Jie, WANG Hujun, WANG Congxiao, LI Yingqi, FANG Boyan, WANG Yingpeng
    Journal of Diagnostics Concepts & Practice    2024, 23 (05): 484-493.   DOI: 10.16150/j.1671-2870.2024.05.004
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    Objective This study aims to investigate the feasibility of diagnosing early-stage Parkinson’s disease (PD) patients by combining functional near-infrared spectroscopy (fNIRS) signals with machine learning algorithms. Methods Sixty PD patients as well as 60 healthy controls, diagnosed between December 2021 and August 2023 at Beijing Rehabilitation Hospital, Capital Medical University, were consecutively enrolled in this study. The ETG-4000 near-infrared brain imaging system with 22 channels (CH) was used to record changes in oxyhemoglobin and deoxyhemoglobin concentrations in the prefrontal cortex of the subjects. A general linear model was applied to calculate the activation degree (β value) for each channel. Four machine learning diagnostic models were developed: support vector machine (SVM), back-propagation (BP) neural network, random forest, and logistic regression models. The performance of the four diagnostic models was evaluated based on accuracy, sensitivity, specificity, and the area under the Receiver Operating Characteristic (ROC) curve. Additionally, SHapley Additive exPlanations (SHAP) analysis was applied to improve the interpretability of the optimal model. SHAP values for each channel were calculated, and the weighted average of the SHAP values from different channels was summarized. By combining this with the brain region distribution, the contribution of different brain regions to the model’s classification task was obtained. Results The accuracy of the four diagnostic models ranged from 81% to 90%, sensitivity from 69% to 89%, specificity from 93% to 100%, and the area under the ROC curve from 0.90 to 0.98. The SVM model outperformed the others, achieving an area under the ROC curve of 0.96, accuracy of 90%, sensitivity of 89%, and specificity of 93%. SHAP analysis revealed that the four channels contributing most to the SVM model were CH08, CH05, CH01, and CH13, with the right frontopolar cortex (FPC) region contributing the largest share (36.5% of the total). Conclusions The model based on fNIRS signals and the SVM algorithm shows great diagnostic advantages in diagnosing early-stage PD patients, with sensitivity (89%) and specificity (93%) exceeding those of most existing methods. Future research should focus on the fNIRS signal characteristics of the right frontopolar cortex and dorsolateral prefrontal cortex regions to further improve the performance of the diagnostic model.

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    Analysis of chest CT findings, diagnosis, and treatment of mucormycosis infection in 65 hematologic disease patients
    LI Ying, JIANG Han, WANG Xiaoxue, WEI Haonan
    Journal of Diagnostics Concepts & Practice    2024, 23 (05): 494-499.   DOI: 10.16150/j.1671-2870.2024.05.005
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    Objective This study aims to analyze the clinical diagnosis and treatment characteristics of hematologic diseases combined with mucormycosis for clinical reference. Methods A total of 65 consecutive cases of hematologic diseases combined with mucormycosis, clinically diagnosed at our hospital from October 2018 to December 2023, were included. All patients underwent chest CT examination, and 14 of them underwent cranial MRI examination. Eight patients underwent lung tissue biopsy, and 57 underwent blood, alveolar lavage fluid, or tissue metagenomic next-generation sequencing. The CT findings were analyzed and the diagnostic process was summarized. Results Pulmonary mucormycosis accounted for 5.30% (65/1 233 cases) of all fungal infections diagnosed in our hospital during the same period. Among these patients, 58 had pulmonary mucormycosis, and 7 had disseminated mucormycosis involving multiple organs. Chest CT of patients with pulmonary mucormycosis showed single patchy consolidation (23/65), multiple nodules (28/65), mixed nodules (11/65), or diffuse exudation (3/65) in the lungs, with 29 cases showing reverse halo sign, 25 cases showing halo sign, 20 cases with pleural effusion, 11 cases with more than 10 nodules, and 2 cases with vessel truncation sign on enhanced CT examination. In patients with disseminated mucormycosis, there were 7 cases of multiple nodules in the lung, 6 cases of single or multiple nodules in the brain, 1 case of diffuse infarction in the brain, and 2 cases of nodules in the spleen and kidney. The average time from the first chest CT to clinical diagnosis was (4.3±1.8) days. After CT suspected fungal infection, blood or tissue and alveolar second-generation sequencing were performed. After antifungal treatment, such as amphotericin B, 58 patients improved, 2 patients underwent surgical resection of lung tissue, 2 patients were lost to follow-up after their families decided to stop treatment, and 3 patients died. Conclusions Pulmonary mucormycosis accounts for about 5% of fungal infections in hospitalized patients with hematological diseases. Chest CT mainly shows single large consolidation and multiple nodules, with 45% showing reverse halo sign and 38.5% showing halo sign. These signs can provide reference for diagnosis, and second-generation sequencing plays an important role in clinical diagnosis.

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    Study on deep learning reconstruction technology in improving image quality of pituitary neuroendocrine tumors in coronal T1WI magnetic resonance image
    ZHANG Huihui, FANG Shu, WU Mengxiong, LIU Fangtao, HE Naying, DONG Haipeng, YAN Fuhua
    Journal of Diagnostics Concepts & Practice    2024, 23 (06): 594-601.   DOI: 10.16150/j.1671-2870.2024.06.006
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    Objective To investigate the role of thin-layer pituitary T1WI fat suppression (FS) coronal enhanced sequences based on deep learning (DL) reconstruction technology in improving image quality for pituitary neuroendocrine tumors. Methods From June 2023 to June 2024, 46 patients diagnosed or suspected of having pituitary lesions were prospectively and consecutively enrolled, with a total of 40 pituitary neuroendocrine tumor lesions identified. All patients underwent thin-layer pituitary DL T1WI FS coronal enhanced scanning. Original reconstruction (OR) images without DL application were retained, and the images were divided into DL and OR groups according to the reconstruction method. Two neuroradiologists, using a double-blind method, subjectively evaluated (using the five-point Likert scale) the image quality of the two groups in six aspects: uniformity, sharpness, artifact, pituitary structure identification, lesion identification, and overall quality. Objective evaluation included measuring and calculating the signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of pituitary neuroendocrine tumor and tumor-free area. The differences in image quality scores between the two groups were compared using the Wilcoxon rank-sum test. The intra-class correlation coefficient (ICC) was used to assess the consistency of subjective and objective image measurement results of both doctors. Results The ICC values of subjective and objective image quality scores between the DL and OR groups were all greater than 0.81, indicating extremely high consistency. In terms of subjective image quality evaluation, the image uniformity of the DL and OR groups was 4.33 (3, 5) and 3.73 (3, 4), respectively. Sharpness was 4.25 (3, 5) and 3.50 (3, 4), artifact was 4.35 (4, 5) and 2.95 (2, 4), pituitary structure identification was 4.38 (3, 5) and 3.35 (2, 5), lesion identification was 4.6 (3, 5) and 3.15 (2, 4), and overall quality was 4.30 (4, 5) and 2.63 (2, 3), respectively. The DL group showed higher scores than the OR group, and the differences were statistically significant (all P<0.001). For objective image quality evaluation, the SNRs of pituitary tumors in the DL and OR groups were 26.96 (18.10, 34.15) and 16.51 (11.24, 20.65), respectively, while the CNRs were 11.30 (6.74, 19.72) and 4.34 (3.07, 6.00), respectively. The SNRs of the pituitary in the DL and OR groups were 38.36 (31.93, 47.03) and 17.02 (15.49, 20.51), while the CNRs were 29.89 (23.28, 39.75) and 18.44 (16.61, 24.56), respectively. The DL group had higher scores than the OR group, and the differences were statistically significant (all P<0.001). The subjective and objective indicators evaluated by the two doctors showed good consistency. Conclusions The T1WI FS coronal enhanced sequences based on DL can significantly improve the image quality of pituitary neuroendocrine tumors and enhance the SNR and CNR of the images while ensuring the spatial resolution of the images, providing accurate imaging support for clinical diagnosis and treatment.

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    Value of vWF-related indicators in the diagnosis of liver cirrhosis progression in patients with hepatitis B
    YANG Mingkang, LIU Yu, XU Guanqun, WANG Jianbiao, WANG Xuefeng, LIANG Qian
    Journal of Diagnostics Concepts & Practice    2024, 23 (06): 574-579.   DOI: 10.16150/j.1671-2870.2024.06.003
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    Objective To evaluate the correlation between von Willebrand factor (vWF) and its related indicators and the progression of liver cirrhosis in patients with hepatitis B and explore the diagnostic value of vWF-related indicators in assisting the diagnosis of decompensated liver cirrhosis in patients with hepatitis B.Methods A total of 91 hepatitis B patients hospitalized in the Department of Infectious Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from December 2020 to March 2021, were included. According to the diagnostic criteria for liver cirrhosis, the patients were divided into three groups: chronic hepatitis B group (31 cases), compensated hepatitis B cirrhosis group (18 cases), and decompensated hepatitis B cirrhosis group (42 cases). The vWF antigen level (vWF: Ag), vWF collagen binding activity (vWF: CB), and vWF propeptide (vWFpp) were measured by ELISA. The vWF: CB/ vWF: Ag ratio was used to reflect the distribution of vWF multimers of different molecular weights. The vWFpp/vWF: Ag ratio was used to reflect the clearance rate of vWF in vivo. The ratio of vWF: Ag/platelet count was used to calculate the VITRO score. The SPSS 26.0 software was used for intergroup comparison, correlation analysis, and to assess the diagnostic performance of each indicator for decompensated hepatitis B cirrhosis.Results The levels of plasma vWF: Ag, vWF: CB, vWFpp, and vWFpp/vWF: Ag were significantly higher in the decompensated hepatitis B cirrhosis group than in the compensated group. However, there were no significant differences in the ratio of vWF: CB/vWF: Ag and VITRO scores between the two groups. The vWF: Ag, vWF: CB and vWFpp showed moderate positive correlations with Child-Pugh score in patients with chronic hepatitis B, with r values of 0.604, 0.593, and 0.711, respectively (P<0.05). When the cut-off value of vWFpp was set over 305.5%, its diagnostic efficacy for decompensated hepatitis B cirrhosis was highest, with a sensitivity of 78.6%, specificity of 93.9%, positive predictive value of 91.7%, negative predictive value of 83.6%, diagnostic accuracy of 86.8%, and area under the curve of 0.899.Conclusion The levels of vWF: Ag and vWFpp in plasma are well correlated with Child-Pugh liver function classification in patients with chronic hepatitis B, and can be used to assist in the diagnosis of decompensated liver cirrhosis of chronic hepatitis B, guiding patient treatment.

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    Survey of the satisfaction with the training status of non-clinical medical professional degree master students
    LI Ping, WANG Zheng, YANG Xinyi, XIE Peng
    Journal of Diagnostics Concepts & Practice    2024, 23 (06): 641-648.   DOI: 10.16150/j.1671-2870.2024.06.013
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    Type Ⅰ renal tubular acidosis caused by primary Sjögren syndrome with first diagnosis of hypokalemia: a case report
    HUANG Min, ZUO Ying
    Journal of Diagnostics Concepts & Practice    2024, 23 (06): 624-627.   DOI: 10.16150/j.1671-2870.2024.06.010
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    Primary Sjögren syndrome (PSS) as a chronic systemic autoimmune disease, many patients with early hidden symptoms of presented the clinical manifestations of other systemic diseases for the first time, and its pathogenesis was not clear yet. PSS could invade the exocrine glands of body, and the kidney was also the susceptible organ in PSS. Some patients could develop to renal tubular acidosis, and lead to refractory hypokalemia and related clinical manifestations. As lack of effective treatment, the early diagnosis and intervention of the disease could avoid damage or delay the involvement of related organs and maximize the benefits of clinical treatment. This paper reported a patient, who was admitted to hospital with chief complain of repeated limb weakness for one year, was diagnosed as type I renal tubular acidosis secondary to primary Sjögren syndrome. The patients received symptomatic treatment and hydroxychloroquine sulfate immunotherapy, and the symptoms were resolved eventually.

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