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Interpretation of the Global Tuberculosis Report 2022 by World Health Organization LIANG Chen, YU Jiajia, TANG Shenjie Journal of Diagnostics Concepts & Practice    2023, 22 (01): 21-30.   DOI: 10.16150/j.1671-2870.2023.01.004 Abstract （1002）   HTML （43）    PDF（pc） （1105KB）（2905）       Knowledge map    Save Global Tuberculosis Report 2022 (hereafter referred to as “report”), newly published by the World Health Organization (WHO), states that the coronavirus (COVID-19) pandemic has increased the tuberculosis (TB) disease burden and severely affected global TB prevention and control. In 2021, WHO approved a total of six molecular diagnostic technologies for TB diagnosis and anti-TB drug resistance detection, and three new TB antigen-based skin tests for TB screening were recommended. To reduce the burden on patients and the health system, WHO recommends a 4-month regimen for drug-susceptible TB and four shorter regimens for the treatment of multidrug-resistant/rifampicin-resistant tuberculosis (MDR/RR-TB). In addition, there were 26 drugs for TB treatment in clinical trials, and at least 22 clinical trials evaluating drugs and drug regimens for TB treatment were underway. In 2021， the TB epidemic remains severe in China, with the number of newly diagnosed cases ranking third among the 30 countries. In 2021, a total of 639 548 TB cases and 1 763 deaths were reported nationwide, with an incidence of 45.37/100 000 and a mortality of 0.13/100 000. China has the fourth largest number of MDR/RR-TB patients in the world. However, it is necessary to verify whether the regimens for MDR/RR-TB treatment recommended by WHO are suitable for patients in China. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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New knowledge of prophylaxis and treatment about cancer-associated thrombosis DING Yongjie, ZHANG Liu, LI Qingyun Journal of Diagnostics Concepts & Practice    2023, 22 (04): 323-331.   DOI: 10.16150/j.1671-2870.2023.04.001 Abstract （168）   HTML （13）    PDF（pc） （946KB）（2427）       Knowledge map    Save Cancer-associated thrombosis (CAT) is the second leading cause of death in cancer patients, second only to the progression of the tumor. It leads to extended hospitalization and re-hospitalization, resulting in a serious social medical burden. Tumor-specific gene mutations such as JAK2, ALK, and KRAS mutations are closely related to the risk of CAT in patients with solid tumors. Patients treated with immune checkpoint inhibitors have a high risk of CAT, with a 1-year cumulative incidence rate of 10.86%. Therefore, accurate risk assessment is important. The Khorana risk score (KRS) is the first model to assess CAT risk and has been validated in several studies. The new generation models are based on the improvement of KRS, but they have not yet undergone large-scale external verification, such as the Vienna CAT model, PROTECHT model, and CONKO model. Due to the strong correlation between tumors and CAT, several CAT-related prevention guidelines have been established domestically and abroad. All of these guidelines recommend that patients undergo preventive anticoagulation therapy after tumor surgery. Low molecular weight heparin (LMWH) is the most widely used anticoagulant drug to prevent CAT. New oral anticoagulants (NOAC) are also used to prevent CAT, despite the incidence of hemorrhaging increases, the overall benefits to patients outweigh the risks. The strategy for treating CAT is complex. For patients with non-gastrointestinal tumors, NOAC can be used as a first-line drug, while LMWH is recommended for anticoagulation in patients with gastrointestinal tumors. Since CAT patients receive anticoagulation and anti-tumor therapy at the same time, drug interactions need to be considered to avoid drug-induced bleeding, especially the impact of combined medication on NOAC pharmacokinetics. The ideal length of anticoagulation therapy for CAT remains unclear. Guidelines recommend that patients with CAT should indefinitely continue the anticoagulation therapy after completing 3 to 6 months of initial anticoagulation therapy. Therefore, when determining the course of anticoagulation therapy for cancer patients, physicians should evaluate the risk of recurrence of thrombosis and bleeding, and optimize the treatment plan. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation of Multiple Myeloma Guidelines update (version 2， 2023) of National Comprehensive Cancer Network （NCCN） TAO Yi, MI Jianqing Journal of Diagnostics Concepts & Practice    2023, 22 (02): 121-126.   DOI: 10.16150/j.1671-2870.2023.02.003 Abstract （1197）   HTML （52）    PDF（pc） （1042KB）（2359）       Knowledge map    Save Multiple myeloma (MM) is the second most common hematological malignancy. With the continuous advent of new drugs, the survival of MM patients has been significantly improved, with a median survival of 7-10 years. However, the overall survival of high-risk MM patients is still less than 3 years, and extending the survival of high-risk MM has always been a hot topic in this field. The National Comprehensive Cancer Network (NCCN) released the 2nd version of the MM guidelines for 2023 (2023. v2). Compared with the 5th edition of the MM guidelines for 2022, the update of this guideline in diagnosis is mainly reflected in the detailed description of high-risk MM in tabular form, including both cytogenetic high-risk factors containing 1q21 gain/amplification and clinical high-risk factors, such as extramedullary disease, renal failure and weakness. In terms of treatment, the updated guideline still emphasizes the importance of autologous hematopoietic stem cell transplantation in the era of new drugs, and indicates that the judgment of whether patients are suitable for transplantation needs to be dynamically adjusted based on the patients’ condition after initial treatment. 2023. v2 upgrades the recommendation of the new generation proteasome inhibitor carfilzomib in initial induction and CD38 monoclonal antibody in maintenance therapy. The combinations of these new drugs with immunomodulatory drug pomalidomide are also listed as the preferred regimens in relapsed patients. The diagnostic techniques for distinguishing high-risk MM and new drugs recommended in the updated guideline are currently available in China, Which greatly enhanc our confidence in the “clinical cure” of MM. A comprehensive interpretation of the 2023. v2 of the guidelines is expected to improve the diagnostic and therapeutic level of clinicians, and further improve the prognosis of China’s MM patient population, especially high-risk patients. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Clinical characteristics and risk factor analysis of 118 patients with cerebral venous sinus thrombosis LI Lei, WU Xi, DAI Jing, WU Wenman, DING Qiulan, WANG Xuefeng Journal of Diagnostics Concepts & Practice    2023, 22 (03): 261-269.   DOI: 10.16150/j.1671-2870.2023.03.09 Abstract （131）   HTML （9）    PDF（pc） （991KB）（2331）       Knowledge map    Save Objective: To analyze the clinical characteristics and thrombotic risk factors of cerebral venous sinus thrombosis (CVST) in Chinese population, in order to provide reference for the clinical diagnosis, prevention and treatment of CVST. Methods: A total of 118 CVST patients who visited the Thrombosis and Hemostasis Clinic of Ruijin Hospital from January in 2015 to December in 2022 were enrolled. The clinical data, imaging characteristics, and thrombotic gene panel were collected, and independent risk factors for thrombosis, recurrence, and multi-site thrombosis in CVST patients were studied through univariate and multivariate logistic regression. Results: Among 118 CVST patients, 88.1% (104/118) patients firstly developed CVST at age younger than 45 years old.It revealed that 57.6% patients (68/118) only suffered CVST once,and 33.1% patients (39/118) experienced thrombotic events at least twice, while 37.3% patients (44/118) suffered multi-site venous thromboembolism (VTE). The superior sagittal sinus was the most common venous sinus to form thrombosis (77/118), and multi-sites of venous sinus were involved simultaneously in 54.2% patients (64/118). The risk factor screening for thrombophilia showed that 70.3% patients (83/118) carried at least one thrombotic risk factor, including 53.3% patients (63/118) with inherited risk factors and 32.2% patients (38/118) with acquired risk factors. The main risk factors for males were anticoagulant protein deficiency (35/66) and antiphospholipid syndrome (5/66), while the risk factors for females mainly included anticoagulant protein deficiency (20/52), pregnancy/postpartum period (11/47), and contraceptive use (5/47). Among 35 patients with unknown risk factors, more than 30% of them experienced recurrent or multi-site thrombosis, and the underlying etiology in these patients still need to be further investigated. Univariate and multivariate logistic regression analysis showed that both inherited risk factors (odds ratio, OR=21.643, 95% confidence interval， CI 9.455-49.544, P<0.0001) and acquired risk factors (OR=10.836, 95% CI 4.306-27.270, P<0.0001) were independent risk factors for the occurrence of CVST. Genetic risk factor (OR=2.270, 95% CI 1.021-5.048, P=0.044) was an independent risk factor for recurrent thrombosis in CVST patients. Conclusions: In Chinese population, CVST is more common in middle-aged and young populations.，with 70.3% patients carrying at least one thrombotic risk factor. Genetic risk factors are the main cause of CVST in China and the detectable rate is 53.3%, which is significantly higher than that (22%) reported abroad. The patients with genetic risk factors have a significantly increased risk of developing CVST or recurrent thrombosis. Identification of thrombotic risk factors, prevention, diagnosis and treatment should be carried out earlier for individuals with high-risk CVST. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation on the report of global stroke data 2022 TANG Chunhua, GUO Lu, LI Qiong, ZHANG Lili Journal of Diagnostics Concepts & Practice    2023, 22 (03): 238-246.   DOI: 10.16150/j.1671-2870.2023.03.06 Abstract （2675）   HTML （138）    PDF（pc） （2270KB）（2027）       Knowledge map    Save In 2022, the World Stroke Organization released two new reports regarding global stroke statistics in the International Journal of Stroke. The reports updated the global incidence and mortality of stroke, evaluated the effects of gender and geographic factors, and provided updated statistics on attributable risk factors associated with stroke. This article briefly interprets the two reports in the context of stroke prevalence and disease burden in China. 2019 Global Burden of Disease Study findings show that stroke remains the second-leading cause of death and the third-leading cause of death and disability combined in the world. From 1990 to 2019, the burden (in terms of the absolute number of cases) increased substantially, with the bulk of the global stroke burden residing in lower-income and lower-middle-income countries. Moreover, people under 70-year-old were observed to have significant increases in stroke prevalence and incidence. The five major risks for stroke globally include high systolic blood pressure, high body mass index, high fasting glucose, environmental particulate matter pollution, and smoking. Stroke prevention and treatment in China are facing great challenges. Stroke has become the leading cause of death and disability among Chinese adults, as well as the leading cause of disability adjusted life year lost. The incidence, prevalence and mortality of stroke in China are geographically high in the north, low in the south and prominent in the central part of the country; the prevalence is higher in rural areas than that in urban areas; the morbidity and mortality rates are higher in men than those in women; the average age of onset is lower than in developed countries; the overall disease burden of ischemic stroke is on the rise, but that of hemorrhagic stroke is on the decline. The awareness of stroke prevention and treatment was low. In conclusion, it is of strategic importance to actively establish a graded stroke prevention and control system that meets the national conditions. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation of the Clinical Practice Guidelines for Non-small Lung Cancer (version 4 and version 5) of 2022 National Comprehensive Cancer Nerwork(NCCN) CHEN Guoqun, CAI Jiaodi Journal of Diagnostics Concepts & Practice    2023, 22 (01): 8-13.   DOI: 10.16150/j.1671-2870.2023.01.002 Abstract （598）   HTML （28）    PDF（pc） （900KB）（1930）       Knowledge map    Save Lung cancer is the leading cause of cancer-related deaths worldwide, with approximately 1.8 million patients dying of lung cancer each year, accounting for 18.0% of all cancer deaths. Non-small cell lung cancer (NSCLC) is the main type of lung cancer and accounts for more than 85% of all lung cancer patients. In China, more than 700 000 new cases of lung cancer are diagnosed each year, and more than 600 000 patients die of lung cancer, accounting for 21.7% of all cancer deaths. In 2022, the National Comprehensive Cancer Network (NCCN) updated the guidelines for clinical diagnosis and treatment of lung cancer. Compared with the third edition of the guidelines, the fourth edition of the guidelines added the reference significance of ERBB2 (HER2) mutation in the diagnosis and treatment of （NSCLC）. The updated content was mainly focused on the detection of HER2 mutation as a standard biomarker and the treatment of patients with HER2 mutation. The detection of HER2 mutation is recommended for patients with metastatic NSCLC. Fam-trastuzumab deruxtecan and trastuzumab emtansine are recommended as second-line treatment options for patients with HER2 mutation. However, both are in clinical trials in China. The treatment strategies for NSCLC patients with HER2 mutations need to be considered comprehensively in light of the actual situation, and more data from domestic trials are needed. The fifth edition of the guidelines expanded the use of nivolumab, marking new progress in the study of immune checkpoint inhibitors. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Report on diagnosis and treatment of hemophilia in China 2023 XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi Journal of Diagnostics Concepts & Practice    2023, 22 (02): 89-115.   DOI: 10.16150/j.1671-2870.2023.02.001 Abstract （2356）   HTML （70）    PDF（pc） （1494KB）（1811）       Knowledge map    Save In recent years, China attaches great importance to the prevention and treatment of rare diseases. As one of the representative diseases of rare diseases, management of Hemophilia has made great progress in China. From 1986 to 1989, the National Hemophilia Cooperative Group conducted China's hemophilia epidemiological survey according to the unified method and standard, and the results showed that the prevalence of hemophilia was 2.73/100 000, and there was no statistical difference in prevalence among different regions. In 2014, Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100 000, and in 2018, based on the data of the urban population of Tianjin, the local prevalence of hemophilia was estimated to be 3.09/100 000. With the comprehensive promotion of the construction of hemophilia hierarchical diagnosis and treatment system, China requires that hospitals applying for hemophilia comprehensive management centers and diagnosis and treatment centers must be able to independently carry out screening tests and confirmatory tests related to hemophilia diagnosis. For diagnosis of hemophilia, most laboratories in China usually adopt the one-stage method (coagulation method) based on the activated partial thromboplastin time (APTT) for the determination of coagulation factor activity, but it should be noted that more than two activity detection methods are required for some special types of hemophilia. The types of each mutation in the F8 gene of patients in China are similar to those reported in international data, and the mutations in the F9 gene of our patients are mainly single base point mutations, with no mutation hotspots found. As of June 2023, a total of more than 40 000 cases with inherited bleeding disorders registered in 261 centers in China (including hemophilia), through the National Hemophilia Registration System. The history of hemophilia treatment in China has been explored through inadequate on-demand and low-dose prophylaxis, and is now moving towards higher-dose prophylaxis and individualized prophylaxis with higher efficacy. Based on the above registry data and literature, this report comprehensively summarizes the progress of basic and clinical research and medical protection in the field of hemophilia in China, and analyzes the shortcomings for further improvement of hemophilia diagnosis and treatment in China. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation of clinical practice guidelines for myelodysplastic syndrome (version 1, 2023) of National Comprehensive Cancer Nerwork(NCCN) SONG Luqian, CHANG Chunkang Journal of Diagnostics Concepts & Practice    2023, 22 (02): 116-120.   DOI: 10.16150/j.1671-2870.2023.02.002 Abstract （320）   HTML （17）    PDF（pc） （904KB）（1683）       Knowledge map    Save Myelodysplastic syndrome (MDS) is a diverse and common group of myeloid malignant clonal diseases in the hematologic system, with different classification and grouping, clinical manifestations and natural course, and the iteration of different classification systems and versions in history, resulting distress in the correct diagnosis, classification and treatment options. The National Comprehensive Cancer Network (NCCN) released the first version （2023） of Clinical Practice Guidelines for MDS in September 2022. The guideline is based on the clinical practice and standards of high-level evidence and the latest research progress, and its attracts wide attention from clinicians worldwide. Currently, many clinicians in China have insufficient understanding of MDS, and there is still a certain gap with the international diagnosis and treatment level of MDS. This paper interprets the content of the new guidelines, and compares it with the previous guidelines, in order to provide a reference for the standardized diagnosis and treatment of MDS at the current stage in China. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Interpretation of the Clinical Practice Guidelines for Lung Cancer Screening (version 2) of 2022 National Comprehensive Cancer Network（NCCN） YANG Wenjie, YAN Fuhua Journal of Diagnostics Concepts & Practice    2023, 22 (01): 14-20.   DOI: 10.16150/j.1671-2870.2023.01.003 Abstract （362）   HTML （13）    PDF（pc） （919KB）（1041）       Knowledge map    Save The National Comprehensive Cancer Network (NCCN) updated the Clinical Practice Guidelines for Lung Cancer Screening (version 2. 2022). In this version, only two factors, age and smoking history, are used to stratify people into high and low risk groups. Individuals aged ≥50 years with a smoking history ≥20 pack per year are at high risk for lung cancer. Low-dose CT (LDCT) screening is recommended for high-risk individuals. The NCCN guidelines are based on the data of randomized trials conducted in the North American population, whose lung cancer disease spectrum differs from that of the Chinese population in terms of disease characteristics and risk factors. Therefore, Chinese physicians should refer to the 2022 NCCN guidelines combined with the characteristics of the Chinese population in clinical practice. In China, individuals are at high risk for lung cancer if they are aged 50-75 years with at least one additional risk factor (≥20 pack/year smoking history, secondhand smoke exposure, occupational exposure, cancer history or family history of lung cancer, disease history of COPD or pulmonary fibrosis). The benefits of lung cancer screening include decreasing lung cancer mortality, improving life quality, and detecting other hidden health risks (breast cancer, thyroid nodules, asymptomatic coronary artery disease, aortic aneurysms, etc). The use of lung nodule risk calculators by multidisciplinary teams with expertise in thoracic radiology, pulmonary medicine, and thoracic surgery for risk assessment is recommended. The disadvantages of lung cancer screening include over-screening or even ineffective screening for indolent lesions, and ineffective screening for small invasive tumors. It suggests that Chinese physicians need to consider the actual situation, weigh the pros and cons, and seek optimal decision-making. Reference | Related Articles | Metrics | Comments（0）

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Interpretation of guidelines for the diagnosis and treatment of primary osteoporosis (2022 version) in China: essential introduction ZHANG Zhenlin, YUE Hua, LI Mei, XIA Weibo Journal of Diagnostics Concepts & Practice    2023, 22 (03): 230-233.   DOI: 10.16150/j.1671-2870.2023.03.04 Abstract （380）   HTML （8）    PDF（pc） （913KB）（987）       Knowledge map    Save China is now witnessing an accelerated aging process，and active reaction is an important issue that we are facing. Osteoporosis and the resulting fractures are particularly noteworthy. In order to further standardize the diagnosis and treatment of primary osteoporosis, the Osteoporosis and Bone Mineral Disease Branch of the Chinese Medical Association has developed and released the “Guidelines for the Diagnosis and Treatment of Primary Osteoporosis (2022 Version)” based on the epidemiological characteristics and pathogenesis of the Chinese population, which combined high-quality medical research evidence from both domestic and foreign sources. Based on evidence-based medicine evidence, and clinical practice in China, this article will focus on the interpretation of two key clinical issues in the new version of the guidelines, namely “fracture risk stratification and treatment selection” and “treatment course of anti-osteoporosis drugs”. Regarding the risk of fractures, this guideline divides it into high and extremely high fracture risks, cancels the classification of low and medium risks, and for one of the extremely high fracture risk indicators “recent brittle fractures”，defines “recent” as “24 months”.Given that the FRAX model underestimates the fracture risk of Chinese patients, it is proposed to develop a highly operational fracture risk stratification criteria in clinical practice. Regarding drug treatment, patients who use bisphosphonates should be fully evaluated before entering the medication holiday, and regular follow-up is still required. Although the Food and Drug Administration (FDA) of the United States has lifted the warning of osteosarcoma and 24- month treatment limit for terlipide, the user manual of the drug in China still suggests a treatment period of 24 months. This guideline is based on high-quality evidence-based medical evidence both domestically and internationally, and may provide reference and research directions for clinical practice. Reference | Related Articles | Metrics | Comments（0）

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Lung cancer worldwide and in China from 1990 to 2020: prevalence and prevention measures WANG Zezhou, ZHENG Ying Journal of Diagnostics Concepts & Practice    2023, 22 (01): 1-7.   DOI: 10.16150/j.1671-2870.2023.01.001 Abstract （940）   HTML （37）    PDF（pc） （946KB）（926）       Knowledge map    Save From 1990 to 2020, the number of newly diagnosed cases of lung cancer in the world continued to grow, but the prevalence remained stable. As time went, the incidence （world standard incidence, adjusted with age structure of world population） of lung cancer changed in gender, region, age, and histological type. The difference between male and female in incidence continued to narrow, with male incidence declining by 12.5% and female incidence rising by 22.3%. There were obvious regional differences in the incidence of lung cancer. From 1998 to 2012, the incidence of male lung cancer in Europe, Asia and North America showed a downward trend (the average annual change percentages were -1.6%, -0.6% and -2.5%， respectively), while the incidence of female lung cancer showed a upward trend except North America. From 1998 to 2012, the average age of lung cancer patients in all regions of the world showed a trend of increasing year by year. The average age at diagnosis of lung cancer in Asian men increased from 67.21 years in 1998 to 69.14 years in 2012. Patterns of histological types of lung cancer have also changed. Since the early 1980s, the proportion of squamous cell lung cancer has declined. Since 2004, adenocarcinoma has become the most common histological type of lung cancer in the world. In 2020, China had the largest cases of newly diagnosed lung cancer in the world. From 1989 to 2008, urban-rural ratio of lung cancer incidence dropped from 2.07 to 1.14. In economically underdeveloped areas, the incidence of lung cancer was also rising, and the situation in some areas with high incidence of lung cancer had been controlled. China, as the largest tobacco producer and consumer country, has to be serious with the control of tobacco. Risk of lung cancer caused by environmental pollution is gradually lower. Controlling occupational exposure is also the key to preventing lung cancer in China, and establishing a mornitoring network for risk factors is the direction in future. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Journal of Diagnostics Concepts & Practice    2022, 21 (03): 291-298.   DOI: 10.16150/j.1671-2870.2022.03.001 Abstract （424）   HTML （17）    PDF（pc） （864KB）（651）       Knowledge map    Save Reference | Related Articles | Metrics | Comments（0）

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Progress in clinical prevention and treatment of refeeding syndrome BA Fuhua, ZHONG Ming, CHEN Ying, CHEN Erzhen Journal of Diagnostics Concepts & Practice    2023, 22 (01): 80-84.   DOI: 10.16150/j.1671-2870.2023.01.013 Abstract （315）   HTML （10）    PDF（pc） （915KB）（511）       Knowledge map    Save Refeeding syndrome (RFS) refers to the clinical syndrome caused by intracellular and extracellular transfer of the body fluids and electrolytes in patients with long-term malnutrition or fasting during the initial stage of active nutritional therapy (enteral, parenteral, or oral). In 2020, the American Society for Parenteral and Enteral Nutrition (ASPEN) defines RFS as a range of metabolic and electrolyte alterations that occur after refeeding. RFS can present as mild RFS only with electrolyte disturbances and few clinical symptoms, or as severe RFS with circulatory and respiratory failure. The clinical manifestations of RFS are diverse and non-specific, which are easy to be ignored by clinicians. The incidence of RFS is 0-80%, which varies with the population and the definition of RFS. The diagnostic criteria for RFS have always been highly heterogeneous, ranging from simple hypophosphatemia to severe low serum electrolyte levels accompanied by fluid imbalance and/or organ dysfunction. The high-risk factors for RFS include patients with anorexia nervosa, patients with mental disorders, and alcohol or drug abusers. The occurrence of RFS in critically ill patients is associated with high mortality rates, ranging from 52.3% to 83.3%.At present, before nutritional treatment, the screening of patients with high risk to develop refeeding problem is mainly based on the National Institute for Health and Care Excellence (NICE) criteria in 2006, but its effectiveness needs to be improved. Therefore, it is necessary to screen and identify high-risk patients early to avoid severe electrolyte disturbance and deterioration of clinical symptoms, thus reduce the risk of death. Reference | Related Articles | Metrics | Comments（0）

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DNA methylation detection assists early screening and diagnosis of tumors LIU Yifei Journal of Diagnostics Concepts & Practice    2023, 22 (04): 393-401.   DOI: 10.16150/j.1671-2870.2023.04.011 Abstract （583）   HTML （16）    PDF（pc） （1010KB）（449）       Knowledge map    Save DNA methylation is one of the most widely used indicator for early cancer screening. Under the influence of carcinogens, hypermethylation of the promoter region of tumor suppressor genes may lead to downregulation or silencing of gene expression, thereby activating the expression of proto-oncogenes and promoting tumorigenesis. The samples used for DNA methylation detection are mainly exfoliated cells, blood samples and paraffin-embedded tissues. Commonly used detection methods include: methylation-specific polymerase chain reaction (MSP), nucleic acid mass spectrometry, methylation chip, bisulfite sequencing, next-generation sequencing, etc. Compared with mutation detection, the advantages of DNA methylation detection are that it has higher tumor specificity, more detectable sites, higher signal quality, and can achieve tissue traceability. Currently, it is mainly used clinically for medication guidance for brain glioma, aid in diagnosis and high-risk triage for lung cancer, high-risk triage and recurrence monitoring for bladder cancer, high-risk triage for cervical cancer, and early screening and recurrence monitoring for colorectal cancer and gastric cancer. Before large-scale clinical routine application, accurately positioning of the application scenarios for DNA methylation detection must be considered. For well-tolerated endoscopy, the rigid need of DNA methylation detection for high-risk triage may be reduced. DNA methylation detection plays an important role in assisting in the diagnosis of tumors with low pathological diagnosis sensitivity, tumor monitoring and prognosis assessment. With the standardization of testing procedures and quality management, DNA methylation detection will be more widely used to improve the early screening and diagnostic sensitivity of tumors. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Advances in mechanism study on novel tetracycline-inactivating enzymes tet(X) causing emerging tigecycline resistance SHEN Pinghua, CHEN Huifen Journal of Diagnostics Concepts & Practice    2023, 22 (01): 75-79.   DOI: 10.16150/j.1671-2870.2023.01.012 Abstract （487）   HTML （17）    PDF（pc） （942KB）（448）       Knowledge map    Save Antibiotic resistance in bacteria has become a great threat to global public health. Tigecycline is a next-generation tetracycline that is the final line of defense against severe infections by carbapenem-resistant Gram-negative bacteria. Unfortunately, this last-resort antibiotic has been challenged by the recent emergence of the mobile tet(X) orthologs that can confer high-level tigecycline resistance. This review will systematically introduce the latest progress in the type, distribution and dissemination, and genetic environment of this orthologs. At present, orthologs of tet(X) mainly include tet(X1), tet(X2), tet(X3), tet(X3.2), tet(X4), tet(X5), tet(X6) and tet(X7). The resistance gene has already been reported in a variety of bacterial hosts and spread to hospital-associated patients and environment in multiple countries/regions. The bacteria carrying tet(X3) and tet(X4) shows the highest resistance level. The insertion sequence ISCR2 is closely related to the horizontal spread of tet(X3), tet(X4) and tet(X5). In particular, the genetic environment of tet(X4) on plasmids is complex, that can be located on various mobile elements, which accelerates the spread of the drug resistance gene. The plasmid-mediated tigecycline resistance may further spread into a variety of ecological niches and into clinical high-risk pathogens and collective efforts are in urgent need to further strengthen the surveillance and research on tigecycline resistance. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Current status and considerations on the diagnosis and treatment of pemphigus in China PAN Meng, WANG Jingying Journal of Diagnostics Concepts & Practice    2023, 22 (03): 209-214.   DOI: 10.16150/j.1671-2870.2023.03.01 Abstract （323）   HTML （10）    PDF（pc） （918KB）（424）       Knowledge map    Save Pemphigus is a rare autoimmune bullous disease with chronic and high rates of relapse. The diagnosis of pemphigus in China has following problems: first, the difficulty of early diagnosis commonly causes missed diagnosis or misdiagnosis with eczema, seborrheic dermatitis, behcet disease, ect. Patients are diagnosed clearly only after several months or years. Second, patients’ cognitive dificiency of pemphigus. Shortage of education on pemphigus patients, low acceptance and obedience and self-reduction or-withdrawal of drug causing common relapse and low sensitivity and increasing adverse reactions in retreatment. Thrid, lack of management of doctors in adverse reaction treatment. Some primary hospitals still have the overdosage of hormone to disease control and nonstandard drug combination as the primary treatment of pemphigus. In January 2020, the Dermatology Branch of China Association for the Promotion of International Exchanges in Healthcare has released Expert Recommendations on the Diagnosis and Treatment of Pemphigus Vlgaris (2020) and update the diagnosis standard of pemphigus in China. In April 2021, the China Autoimmune Bullous Disease Collaboration Network was officially established to promote the further update of pemphigus diagnosis and treatment with multi-center and multidisciplinary collaborative research. “Early diagnosis, timely treatment, careful nursing, long-term follow-up” is the principle of pemphigus diagnosis and treatment. This article concludes the situation of pemphigus in China, compares differences between home and abroad in diagnosis and treatment of pemphigus and triggers thoughts of future development. Reference | Related Articles | Metrics | Comments（0）

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Journal of Diagnostics Concepts & Practice    2022, 21 (04): 419-424.   DOI: 10.16150/j.1671-2870.2022.04.001 Abstract （246）   HTML （6）    PDF（pc） （629KB）（326）       Knowledge map    Save Reference | Related Articles | Metrics | Comments（0）

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Journal of Diagnostics Concepts & Practice    2022, 21 (03): 299-303.   DOI: 10.16150/j.1671-2870.2022.03.002 Abstract （228）   HTML （11）    PDF（pc） （544KB）（325）       Knowledge map    Save Reference | Related Articles | Metrics | Comments（0）

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Advances in the application of contrast-enhanced ultrasound in the diagnosis and treatment of focal liver lesions REN Xinping, LI Junjian, ZHANG Jie, ZHAN Weiwei Journal of Diagnostics Concepts & Practice    2022, 21 (06): 684-690.   DOI: 10.16150/j.1671-2870.2022.06.004 Abstract （442）   HTML （11）    PDF（pc） （741KB）（314）       Knowledge map    Save Ultrasonography is recommended as an ideal imaging technique for surveillance and screening of liver tumors by guidelines in many countries. Contrast-enhanced ultrasound (CEUS) based on conventional ultrasound can provide function information of tissue microcirculation and perfusion.CEUS has advantages over contrast-enhanced CT/MRI in providing real-time, continuous, dynamic monitoring without radiation damage. The ultrasound contrast microbubbles is excreted through the lung,with no evidence of any effect on cardiac, renal and thyroid function. Contrast microbubbles can be applied to patients with renal insufficiency. There is a very low incidence of allergic reaction about ultrasound contrast agents. CEUS has been recommended as a first-line enhanced imaging technique for the diagnosis and differential diagnosis of focal liver lesions by domestic and international guidelines. Compared with conventional ultrasound, CEUS has better performance in detection,diagnosis and differential diagnosis of focal liver lesions(FLL). The contrast-enhanced ultrasound liver imaging reporting and data system (LI-RADS) issued by the American College of Radiology (ACR) is used to describe the full spectrum of intrahepatic lesions in high-risk patients, predicte the risk stratification of focal liver lesions, and recommend clinical management strategies. CEUS LI-RADS aimed to achieve an extremely high (ideally 100 %) positive predictive value for the diagnosis of hepatocellular carcinoma. CEUS LI-RADS is also applicable to the Chinese population. In the aspect of intervention, CEUS is helpful to optimizing of the path and identification of target in puncture biopsy of FLL, improving the success rate of puncture and positive rate of specimen, and is applied in the guidance during ablation surgery, instant assessment, long-term efficacy evaluation and postoperative follow-up. In addition, intraoperative application of CEUS can improve the detection rate of small liver metastases and identify disappearing liver metastases carcinoma after chemotherapy on regular images, thus helping clinicians to revise surgical protocols. CEUS also has certain application value in evaluating the efficacy of systemic treatment of liver malignancies. In conclusion, CEUS is playing an increasingly important role in the diagnosis and treatment of liver tumors Reference | Related Articles | Metrics | Comments（0）

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A comparative study on the value of urine free light chain and urine total light chain assays in quantitative monitoring of urine light chain LIU Yuanfang, WANG Yan, SHI Xinming, XU Wenbin, WANG Xuefeng, MI Jianqing Journal of Diagnostics Concepts & Practice    2023, 22 (02): 172-177.   DOI: 10.16150/j.1671-2870.2023.02.011 Abstract （258）   HTML （3）    PDF（pc） （1105KB）（283）       Knowledge map    Save Objective: To explore whether the novel urine free light chain (uFLC) assay is superior to the traditional urine total light chain (uTLC) assay in quantitative monitoring of urine light chain. Methods: A total of 458 paired samples of blood and were collected from 280 patients (including 153 patients with plasma cell diseases and 137 patients with non-plasma cell diseases) from January 2022 to March 2023 at Ruijin Hospital， Shanghai Jiao Tong University School of Medicine. The positive concordance rates and correlations between the κ value, λ value and κ/λ ratio of uFLC and uTLC assays with the results of urinary immunofixation electrophoresis (uIFE) and serum free light chain (sFLC) were analyzed by Chi-squared test, MeNemar’s test and Spearman correlation coefficient calculation. Result: Among the 102 uIFE positive samples, 88.2% (90/102) of the samples had abnormal uFLC κ/λ ratio, and 87.3% (89/102) had abnormal uTLC κ/λ ratio (P<0.001). Among the 183 samples with abnormal sFLC κ/λ ratio, 65.6% (120/183) of the samples had abnormal uFLC κ/λ ratio, and 51.4% (94/183) had abnormal uTLC κ/λ ratio (P<0.001). Among the 457 samples with both uFLC and uTLC results, 164 samples (35.9%) had abnormal uFLC κ/λ ratio, and 123 samples (26.9%) had abnormal uTLC κ/λ ratio (P<0.001). There was a strong correlation between the levels of κ light chain, λ light chain, and κ/λ ratio of uFLC and uTLC (r values were 0.849, 0.697 and 0.648, respectively, P<0.001). The r values between the levels of corresponding κ light chain, λ light chain, and κ/λ ratio of uFLC and sFLC were 0.628, 0.552, and 0.640 (P<0.001), while the r values between the levels of κ light chain, λ light chain, and κ/λ ratio of uTLC assay and sFLC assay were 0.520, 0.533, and 0.551, respectively (P<0.001). Moderate correlations were indicated and the correlation between uFLC and sFLC was stronger than that between uTLC and sFLC. Conclusions: Compared with the uTLC assay, the uFLC assay is more sensitive in the quantitative monitoring of urine light chain and has higher positive concordance rates and stronger correlations with uIFE and sFLC results, indicating an objective quantitative determination of urine light chain. It is recommended to prioritize the use of uFLC assay in clinical quantitative monitoring of urinary light chain. Table and Figures | Reference | Related Articles | Metrics | Comments（0）