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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 （2386）   HTML （122）    PDF（pc） （2270KB）（1794）       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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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 （2286）   HTML （69）    PDF（pc） （1494KB）（1696）       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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Correlation and influencing factors analysis of the cycle threshold value in detection of novel coronavirus nucleic acid(Omicron) and the negative conversion cycle in infected patients DING Ning, CHEN Shikai, MENG Jun, DAI Jing, JIN Peipei, et al Journal of Diagnostics Concepts & Practice    2022, 21 (02): 169-173.   DOI: 10.16150/j.1671-2870.2022.02.013 Abstract （1365）   HTML （38）    PDF（pc） （535KB）（219）       Knowledge map    Save Objective: To explore the relationship between the cycle threshold (Ct) value of ORF1ab gene and N gene in the first admission detected by novel coronavirus (Omicron) nucleic acid and the negative conversion cycle of infected patients. Methods: 5 212 patients with novel coronavirus omicron variant infection were admitted to the Northern Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from March 2022 to April 2022 were collected, according to the patient′s previous history and the tests of relevant indexes after admission, including 2 746 cases in non-basic disease group and 2 466 cases in the basic disease group. All subjects received the Ct value of the ORF1ab genes and the N genes tests. Statistical analysis of the difference of the negative conversion cycle of ORF1ab gene and N gene between non-basic disease group and basic disease group under different Ct values at the first admission. Pearson linear correlation analysis was used to assess the association of Ct value of ORF1ab gene and N gene with the negative conversion cycle, and multiple linear regression was used to analyze the factors affecting the negative conversion cycle. Results: The Ct values of ORF1ab gene and N gene in patients novel coronavirus infection were negatively correlated with the negative conversion cycle (rORF1ab=-0.4622, P<0.01; rN=-0.5428, P<0.01). In the case of Ct value ≤20 and 20 <Ct value ≤30, there was a significant difference in the negative conversion cycle between the group with basic diseases and the group with non-basic disease, which the negative conversion cycle of the group with basic diseases was significantly higher than that of the group with non-basic disease (P<0.05); When the Ct value of the ORF1ab gene increases by one cycle, the negative conversion cycle is shortened by 0.21 days, and when the Ct value of the N gene increases by one cycle, the negative conversion cycle is shortened by 0.26 days, in addition, age and basic diseases are risk factors. Conclusions: The Ct values of ORF1ab gene and N gene in the first admission are related to the negative conversion cycle of patients with novel coronavirus (Omicron) infection, which can be used as an independent predictor of the negative conversion cycle of patients with novel coronavirus infection and have a certain value in guiding patients with novel coronavirus infection to reduce the frequency of nucleic acid detection and to assess disease progression. 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 （1113）   HTML （51）    PDF（pc） （1042KB）（2216）       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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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 （947）   HTML （43）    PDF（pc） （1105KB）（2793）       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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Phenotypes of chronic obstructive pulmonary disease with preserved ratio impaired spirometry (PRISm) SUN Xianwen, LI Qingyun Journal of Diagnostics Concepts & Practice    2023, 22 (03): 234-237.   DOI: 10.16150/j.1671-2870.2023.03.05 Abstract （886）   HTML （8）    PDF（pc） （904KB）（169）       Knowledge map    Save The Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2023 first proposed “Preserved Ratio Impaired Spirometry (PRISm)”, which is the ratio of post-bronchodilator forced expiratory volume in one second to forced vital capacity is normal (FEV1/FVC ≥ 0.7) as pulmonary ventilation function is impaired (post-bronchodilator FEV1% and/ or FVC%<80%. It is particularly necessary to pay attention to the PRISm population with significant FVC deterioration. PRISm was associated with increased incidence of complications and all-cause mortality in the patients with in chronic obstructive pulmonary disease (COPD). In GOLD 2023, it was clarified that PRISm patients should be considered as COPD patients for early screening, standardized treatment, due to their significant clinical symptoms, lung function deterioration, and or abnormal bronchoalveolar structure even if their airway limitation does not meet the criteria for COPD. The cohort studies for large sample, multi-center, long-term follow-up with PRISm in China should be investigated in future. 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 （851）   HTML （31）    PDF（pc） （946KB）（815）       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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Major autoantibodies in pemphigus: detection and clinical significance WANG Qijun, ZHU Haiqin, PAN Meng Journal of Diagnostics Concepts & Practice    2022, 21 (05): 638-643.   DOI: 10.16150/j.1671-2870.2022.05.017 Abstract （624）   HTML （8）    PDF（pc） （681KB）（234）       Knowledge map    Save Pemphigus is a severe autoimmune disease causing damage of epidermis and mucosa. Patients can produce autoantibodies against structures like intercellular adhesion, which leads to disease. Main pathogenic antibodies include anti-Gsg1 and anti-Gsg3 which cause disease primarily through steric hindrance and signal transduction after antigen-antibody binding. Other antibodies such as anti-Dsc, anti-plakin family, anti-acetylcholine receptor etc. also play an important synergistic effect in the pathogenic process. With the popularization of immunofluorescence, ELISA and other technologies, antibody detection has become an important method for clinical diagnosis and monitoring of pemphigus. Couples of clinical studies have shown that the titers of anti-Dsg1 and Dsg3 antibodies are related to the activity of pemphigus disease, which can also indicate the recurrence of the disease and guide clinical medication. More mechanism research and clinical exploration of pemphigus autoantibodies will help us to cognize the disease further. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Lamb-Shaffer syndrome presenting as short stature with delays in motor and language acquisition: a case report and literature review ZHANG Juanjuan, HE Qinyu, YANG Yuanyan, DONG Zhiya, XIAO Yuan, CHEN Lifen, ZHANG Caiping Journal of Diagnostics Concepts & Practice    2022, 21 (03): 336-342.   DOI: 10.16150/j.1671-2870.2022.03.008 Abstract （601）   HTML （10）    PDF（pc） （1062KB）（218）       Knowledge map    Save Objective: To analyze a case of Lamb-Shaffer syndrome(LAMSHF) with short stature and delayed language and motor development as the main manifestation,and summerize data of the disease in data bank for improving the understanding of this disease. Methods: A male child aged 9 year and 3 months with severe short stature and delayed language and motor development admitted to our hospital was analyzed. Their clinical data were collected, and the genomic DNA was extracted from whole blood of the children and their parents for whole exome sequencing and DNA Sanger sequencing verification. Meanwhile, relevant literature was reviewed to analyze the pathogenesis, clinical characteri-stics, diagnosis and therapy and prognosis of LAMSHF. Results: The height of the boy was 108.7 cm [-4.82 standard deviation (SD)], weight was 17.1 kg (<-2.1 SD), body mass index was 14.5 kg/m2 (-1.1 SD), and gross motor and language development 1-year delay. Laboratory test showed the insulin-like growth factor was 74 ng/mL (-2.14 SD), growth hormone challenge test suggested growth hormone and the remaining tests were all normal. Whole exome sequencing revealed that Seq[GRCh37]del(12)(p12.1s; p11.1) involved multiple known pathogenic genes including SOX5, with a copy number deletion of at least 10.4 Mb, and which were not detected before, so the copy number variant was a novel mutation. The mutation was assessed by ACMG guidelines as probable pathogenic (PS2+PM1). Therefore Lamb-Shaffer syndrome was diagnosed. Literature reviewing indicated that 11 LAMSHF-related studies included 1 domestic study and 10 foreign studies, with a total of 75 patients. The diagnosis of LAMSHF depended on genetic testing, and there is no clear genotype-phenotype correlation. The improvement of the patient's intellectual disability depended on rehabilitation treatment. Due to the high risk of epilepsy, ocular signs, and hypotonia in this disease, and the tendency to have tumors, growth hormone should be avoided for treatment of short stature. Patients with this disease currently had a poor prognosis. Conclusions: The boy with LAMSHF carried 12p12.1 deletion, which is the largest deletion and is never reported, presenting severe short stature. Short stature children with abnormal intelligence need to be screened for gene mutation and copy number variation of SOX5, and growth hormone therapy should be avoided due to potential risk of tumorigenesis. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Clinical significance of changes in peripheral blood lymphocyte subsets in patients with novel coronavirus pneumonia SHI Feng, GUO Zhuying, GUO Haiyan Journal of Diagnostics Concepts & Practice    2022, 21 (05): 619-624.   DOI: 10.16150/j.1671-2870.2022.05.012 Abstract （595）   HTML （12）    PDF（pc） （735KB）（131）       Knowledge map    Save Objective: To explore changes in the percentage and cell absolute count of lymphocyte subsets in peripheral blood of patients with novel coronavirus pneumonia (COVID-19). Methods: The clinical data of 244 patients with COVID-19 admitted to the Ninth People′s Hospital, Shanghai Jiao Tong University School of Medicine from April 25 to May 16, 2022 were retrospectively analyzed and classified into difterent groups according to the types of diseases (mild, ordinary and severe), vaccination status and co-existing underlying diseases. Flow cytometry was used to detect the absolute counts and percentages of different lymphocyte subsets(CD3+T lymphocytes, CD3+CD4+T lymphocytes, CD3+CD8+T lymphocytes, CD16+CD56+NK cells and CD19+B lymphocytes) in each group. Further, we analyzed the relationship between the changes in peripheral blood lymphocyte subsets and the above clinical characteristics in patients. Results: Compared with those in the mild group, the absolute count of each lymphocyte subsets (P<0.05) and the percentage of CD3+T lymphocytes in the severe group were significantly decreased (58.0% vs 66.0%, P<0.05); Compared with the ordinary group, the absolute counts of CD3+T, CD3+CD4+T, CD3+CD8+T, CD19+B lymphocytes (P<0.05) were all decreased and the percentage of CD3+T lymphocytes in the severe group was decreased (58.0% vs 68.6%, P<0.05). Compared with those in the non-vaccinated group, the absolute counts of CD3+T (1 061/μL vs 858.2/μL), CD3+CD4+T (514.4/μL vs 645.1/μL), CD19+B (151.7/μL vs 249.6/μL) lymphocytes (P<0.05) and the percentage of CD19+B lymphocytes in the vaccinated group were increased (11.7% vs 15.4%, P<0.05). Compared with those without underlying diseases, the absolute counts of CD3+T (1 063/μL vs 891.4/μL), CD3+CD4+T (637.7/μL vs 540.3/μL), CD3+CD8+T (353.3/μL vs 299.5/μL), CD19+B (253.7/μL vs 154/μL) lymphocytes (P<0.05) and the percentage of CD19+B lymphocytes in patients with hypertension/diabetes were decreased (14.1% vs 11.8%, P<0.05). Conclusions: The changes in lymphocyte subsets in patients with COVID-19 are closely related to the severity of symptoms, vaccination history and history of underlying diseases. The decline in the level may indicate that the immune function of patients is reduced, and lymphocyte subsets measurement has essential reference value for the diagnosing, treating, and evaluating disease progression and prognosis in patients with COVID-19. 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 （569）   HTML （26）    PDF（pc） （900KB）（1685）       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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Expert suggestion for adrenal diseases management during the recent COVID-19 pandemic Chinese Society of Endocrinology,Chinese Medical Association , et al Journal of Diagnostics Concepts & Practice    2022, 21 (02): 139-142.   DOI: 10.16150/j.1671-2870.2022.02.007 Abstract （539）   HTML （11）    PDF（pc） （407KB）（40）       Knowledge map    Save A new hit of severe acute respiratory syndrome coronavirus 2 variant strain Omicron pandemic is spreading worldwide and gradually affecting China. Adrenal disease severely affects the balance of glucose, lipids, water and salts throughout the body, thus affecting the prognosis of patients with coronavirus disease 2019 (COVID-19). At the same time, it has become a key point on management of COVID-19 with adrenal disease, due to its specialty and lack of clinical understanding. The purpose of this expert suggestion is to standardize the clinical understanding and guide clinical practice. Especially in the context of complex epidemic prevention and control, it provides necessary reference basis and guidance for the diagnosis, treatment and comprehensive management of adrenal diseases during the current COVID-19 epidemic. 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 （491）   HTML （14）    PDF（pc） （1010KB）（324）       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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Analysis of pathological classification of 3 071 case of gastric cancer in China MA Qianchen, ZHANG Benyan, RUI Weiwei, WANG Ting, LUO Fangxiu, WANG Chaofu, YUAN Fei Journal of Diagnostics Concepts & Practice    2022, 21 (05): 560-566.   DOI: 10.16150/j.1671-2870.2022.05.003 Abstract （462）   HTML （10）    PDF（pc） （1536KB）（216）       Knowledge map    Save Objective: To retrospectively analyze the clinicopathological data of gastric cancer (GC) in order to investigate the histological classification and epidemiological characteristics of GC in China. Methods: A total of 3 071 cases of malignant gastric epithelial tumors who underwent surgery in Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from January 2019 to July 2022 were included. The relevant pathological and clinical data were summarized and analyzed according to the 5th Edition of WHO classification of digestive system tumors and literatures was reviewed. Results: Among 3 071 cases of GC, 3 003 were diagnosed as having adenocarcinoma. The male to female incidence ratio was 2.18:1, with a median age of 64 years. It showed tubular adenocarcinoma, papillary adenocarcinoma, mixed adenocarcinoma, poorly cohesive carcinoma and mucinous adenocarcinoma are the most common. In this study, these 5 histological subtypes accounted for 96.84% of all gastric adenocarcinomas. For Lauren classification, ratio of intestinal type to diffuse type was 1.39:1. MMR deficiency was found in 5.73% of gastric adenocarcinoma cases, among which 163 cases were with loss of MLH1 and PMS2 expression. It revealed that 1.40% of the cases were positive for Epstein-Barr virus encoded small RNA (EBER). In the human epidermal growth factor receptor-2 (HER2) testing by immunohistochemistry (IHC) for adenocarcinoma, the cases of protein expression for IHC score 2+ and 3+ were 229 and 113. Conclusions: The pathological subtype distribution of gastric cancer in China has its unique characteristics, with a ratio of intestinal adenocarcinoma to diffuse adenocarcinoma lower than average level in Asian. The proportion of Epstein-Barr virus (EBV) positive gastric cancer is lower than the average level at abroad, while the proportions of cases with HER2 IHC score 2+ or 3+ are also lower than foreign reports. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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The prognostic value of CA9 expression in clear cell renal cell carcinoma XU Jiankun, ZHOU Luting, ZHANG Wenjing, XU Haimin, WANG Chaofu Journal of Diagnostics Concepts & Practice    2023, 22 (01): 37-43.   DOI: 10.16150/j.1671-2870.2023.01.006 Abstract （446）   HTML （13）    PDF（pc） （3668KB）（257）       Knowledge map    Save Objective: To evaluate the prognostic value of CA9 in predicting postoperative recurrence， metastasis or survival in patients with clear cell renal cell carcinoma(ccRCC). Methods: The clinical pathological data from 231 patients with ccRCC who underwent radical or partial nephrectomy from January 1, 2017 to December 31, 2020 in Ruijin Hospital,Shanghai Jiao Tong University were retrospectively analyzed. The patients were followed up for the overall survival (OS),disease-free survival (DFS),and tumor recurrence or metastasis. All pathological sections and wax blocks of tumor issue were collected to make tissue microarray, and immunohistochemical analysis of tissue microarray was performed using CA9 polyclonal antibody. SPSS statistical software multivariate Cox and Kaplan-Meier were used to evaluate the correlation of CA9 expression with clinicopathological features, OS and DFS. Results: Of the 231 ccRCC patients had a median follow-up of 37 months (13-54 months). It revealed that postoperative recurrence and/or metastasis occurred in 38 cases, inclu-ding 6 cases with both recurrence and metastasis, 3 cases with only recurrence, 29 cases with only metastasis, and 8 deaths. Among 231 patients, CA9 positive expression rate was 94%(217/231), of which 153 (66%) were with cells stained with CA9 ≥85% and 78 (34%) were stained with CA9 <85%. Chi-square analysis showed that the expression of CA9 was not only correlated with T stage, ISUP nuclear grade, sarcomatoid or rhabdomyoid differentiation, necrosis, capsule invasion, vascular infiltration, but also correlated with tumor recurrence, metastasis and survival status. There was no relationship between CA9 expression and age, sex and tumor location (P>0.05). Univariate Kaplan-Meier analysis and multiva-riate Cox analysis showed that low expression of CA9 (<85%) was a poor prognostic factor for postoperative overall survival (OS) and disease-free survival (DFS) in patients with ccRCC, with hazard ratios of 6.211 (P=0.002) and 8.980 (P<0.001), respectively. Conclusions: In ccRCC, low expression of CA9 is associated with poor OS and DFS, and is an independent risk factor for OS and DFS in postoperative patients with ccRCC, which may serve as a useful prognostic indicator. 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 （446）   HTML （14）    PDF（pc） （942KB）（404）       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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Expert suggestions on the management of hyperthyroidism and hypothyroidism in the time of COVID-19 Chinese Society of Endocrinology,Chinese Medical Association , et al Journal of Diagnostics Concepts & Practice    2022, 21 (02): 128-129.   DOI: 10.16150/j.1671-2870.2022.02.003 Abstract （435）   HTML （19）    PDF（pc） （256KB）（63）       Knowledge map    Save Hyper- and hypo-thyroidism are chronic conditions that are usually treated in the outpatient clinic. Laboratory tests such as thyroid function tests are very important reference for patients′ disease management. In the time of coronavirus disease 2019（COVID-19）, in order to cooperate with the epidemic control measures, some patients could not go to the outpatient clinic in time. This article provides expert suggestions for the management of thyroid dysfunction during the special period of the epidemic. Reference | Related Articles | Metrics | Comments（0）

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Diagnosis and treatment of familial male precocious puberty caused by LHCGR gene mutation: two case reports and literature review HE Qinyu, WANG Wei, CHEN Lifen, ZHANG Xuelei, DONG Zhiya Journal of Diagnostics Concepts & Practice    2022, 21 (05): 598-605.   DOI: 10.16150/j.1671-2870.2022.05.009 Abstract （428）   HTML （3）    PDF（pc） （1237KB）（69）       Knowledge map    Save Objective: To report the clinical features, gene detection results and treatment results of two patients with familial male limited precocious puberty(FMPP). Methods: Detailed medical history collection and physical examination were carried out in 2 FMPP patients. LHRH challenge test, sex hormone, adrenal cortical hormone and other tests and relevant imaging examinations were performed. At the same time, peripheral blood of related family members was collected for gene detection, and relevant literature was retrieved in the Chinese database and PubMed database for comprehensive discussion. Results: The initial diagnosis age of the two patients was 6 years and 1 month (case 1) and 3 years and 7 months (case 2), respectively. The symptoms were penis and testis enlargement, accelerated growth, and advanced bone age. Case 2 was accompanied by aggressive behavior. Laboratory examination indicated that the peak value of luteinizing hormone was 7.28 mIU/mL and 4.96 mIU/mL respectively, and the basal testosterone level rose to 2.49 ng/mL and 3.58 ng/mL, while no abnormality was found in imaging examination. According to the medical history and various examination results of 2 patients, central precocious puberty was clinically diagnosed. Gene testing showed that there were heterozygous variations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene boys including c.1756TCTdel (p.Ser586del) variation and c.1723A>C (p.Ile575Leu) variation were identified in case 1 and case 2). It revealed that genetic variation in case 1 resulted from his father, while in case 2 came from his mother. According to the guidelines of The American College of Medical Genetics and Genomics(ACMG), genovariation of LHCGR gene was assessed as possible pathogenic variation, so it was clear that central precocious puberty was caused by LHCGR gene mutation. Conclusions: Two male FMPP caused by LHCGR genetic variation are reported in this paper, and c.1756TCTdel(p.Ser586del) in case 1 which is first reported both in demastic and aboard. For boys with central precocious onseting in low age or with poor treatment effect, test on LHCGR genetic variation may be performed. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Infective endocarditis due to Streptococcus gordonii: a case report WANG Xiaolin, ZHAO Gangde, LIN Lanyi, ZHOU Huijuan, FANG Yuehua, SHENG Zike, CAI Wei, XIE Qing, DING Yezhou, TAO Rong, WANG Hui Journal of Diagnostics Concepts & Practice    2022, 21 (05): 629-631.   DOI: 10.16150/j.1671-2870.2022.05.014 Abstract （428）   HTML （8）    PDF（pc） （414KB）（55）       Knowledge map    Save Infective endocarditis (IE) is a rare but life-threatening disease. Invasive dental treatment (IDT) can produce temporary bacteremia, so they are considered as potential risk factors for IE. The physicians should pay attention to the possibility of IE, when patients have fever of unknown origin after IDT. Streptococcus gordonii is one of the common colonization bacteria in periodontal environment. A case of infective endocarditis caused by Streptococcus gordon after tooth extraction was reported. This case suggests an important link between IE and IDT. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Management strategy of nursing for prevention and control of COVID-19 in emergency infusion room LIANG Jing, HUANG Chen, JIANG Yan, et al Journal of Diagnostics Concepts & Practice    2022, 21 (02): 281-285.   DOI: 10.16150/j.1671-2870.2022.02.037 Abstract （418）   HTML （5）    PDF（pc） （776KB）（97）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics | Comments（0）