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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 （2160）   HTML （114）    PDF（pc） （2270KB）（1625）       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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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 （762）   HTML （6）    PDF（pc） （904KB）（149）       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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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 （426）   HTML （13）    PDF（pc） （1010KB）（274）       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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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 （312）   HTML （7）    PDF（pc） （913KB）（554）       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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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 （267）   HTML （10）    PDF（pc） （918KB）（274）       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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Hot spots in diagnosis of malignant melanoma WU Nanming, LI Jun, TAO Juan Journal of Diagnostics Concepts & Practice    2023, 22 (03): 215-220.   DOI: 10.16150/j.1671-2870.2023.03.02 Abstract （234）   HTML （13）    PDF（pc） （997KB）（156）       Knowledge map    Save The global incidence of melanoma increased from 2.01/ 100 000 in 1990 to 3.75/100 000 in 2019. The incidence and mortality rate of malignant melanoma in China is lower than that of the global average, but in recent years, its incidence rate has increased (3% to 5%). Malignant melanoma is the fastest growing malignant tumor in China, and new melanoma patients reach 20 000 to 30 000 cases every year. Melanoma is prone to invasion and metastasis, and the 5-year survival rate of stage IV patients is only 4.6%. Early diagnosis and treatment can greatly improve the prognosis of patients with malignant melanoma. At present, the hot spots in the diagnosis of malignant melanoma include visual aid, artificial intelligence-assisted diagnosis, histological diagnosis and differential diagnosis. Visual AIDS can be used to screen for melanoma, and dermoscopy and skin confocal technology (CT) can diagnose melanoma with sensitivity of 61% and 100%, respectively. AI based diagnosis of malignant melanoma is more accurate than that of artificial intelligence alone or doctors, and can improve the diagnosis accuracy of malignant melanoma from 55.6% to 75.0%. With the continuous progress of second-generation sequencing technology in histology diagnosis, there is still a lack of objectively and highly repeatable immunohistochemical markers applicable to all melanomas. However, with the development of melanoma genomics research, BRAF V600E and NRAS mutations have been applied in clinical diagnosis, treatment and prognosis assessment. Malignant melanoma is highly invasive, and many patients are in the advanced stage when diagnosed. Therefore, the diagnosis and treatment of melanoma in China should pay attention to the multidisciplinary diagnosis and treatment team model, and promote the diagnosis and treatment principles and guidelines based on multidisciplinary consensus. Reference | Related Articles | Metrics | Comments（0）

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Psoriasis comorbidity: prevalence, diagnosis and treatment SHI Yuling, CHEN Wenjuan Journal of Diagnostics Concepts & Practice    2023, 22 (03): 221-229.   DOI: 10.16150/j.1671-2870.2023.03.03 Abstract （209）   HTML （12）    PDF（pc） （1039KB）（149）       Knowledge map    Save The global incidence of psoriasis is about 1%-3%, and in China is about 0.47%. It is reported that 57.9% of psoriasis patients have at least one psoriasis comorbidity, which not only affects the progression and severity of psoriasis, but also affects the treatment choice and therapeutic effect for patients. Psoriatic arthritis is the most common comorbidity, with the prevalence of 6% to 42% in the world, of approximately 14% in Asia，and of about 4.9% in Chinese population. Psoriasis is one of the risk factors for cardiovascular disease and is an independent risk factor for myocardial infarction. Compared with non-psoriasis patients, psoriasis patients have an higher prevalence of metabolic diseases.The risk of diabetes in psoriasis patients increases by 0.69 times.The risk of obesity increases by 0.46 times in mild psoriasis patients and by 1.23 times in moderate to severe psoriasis patients. In addition, the prevalence of depression in psoriasis patients increases by 0.5 times, and the risk of autoimmune diseases is also higher. For treatment of psoriasis and psoriasis comorbidities, systemic anti-inflammatory treatment can not only relieve or eliminate skin inflammation, but also alleviate the occurrence, progression or severity of psoriasis comorbidities. The treatment principle of psoriasis comorbidities should take the condition of the patient’s psoriasis into consideration, and should also depend on the type of comorbidity, the risk of worsening of comorbidity, etc. Multidisciplinary collaboration is the trend in the diagnosis and treatment of psoriasis and its comorbidities. The cross-disciplinary cooperation between dermatologists and specialists matters a lot. Reference | Related Articles | Metrics | Comments（0）

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Thoracic SMARCA4-deficient undifferentiated tumour: a case report ZHANG Lanlan, YANG Qiao, NIE Zunzhen, GUO Ying Journal of Diagnostics Concepts & Practice    2023, 22 (04): 389-392.   DOI: 10.16150/j.1671-2870.2023.03.010 Abstract （150）   HTML （2）    PDF（pc） （3596KB）（89）       Knowledge map    Save Thoracic SMARCA4-deficient undifferentiated tumor is a rare type of undifferentiated tumor occurring in the pleura. Their morphological features are poorly differentiated. A malignant tumor that lacks glandular, squamous, or other distinct cell lineages, as demonstrated by histological and immunohistochemical staining, is characterized by plasmacytoid and rhabdomytoid cell morphology and loss of SMARCA4 expression. We report a case of an undifferentiated tumor in the pleura with a SMARCA4 deletion,The tumor cells were plasmacytoid or rhabdomytoid，Poor cell differentiation, Immunohistochemical staining showed Syn positive in tumor cells,SMARCA4 expression is deficient,The proliferation index of Ki-67 was 80%,Other markers were all negative The patient was a heavy smoker and previously healthy.Patients with insidious onset,It was found in an advanced stage.After the surgery, no treatment was administered, and the patient survived for only 66 days.There was no significant difference in the survival time of advanced patients who received traditional treatment after surgery compared with those reported in the literature.The clinical data, histological characteristics and immunohistochemistry were retrospectively analyzed, and a review of the relevant literature suggests that SMARCA4-deficient undifferentiated tumors are highly aggressive and have a poor prognosis. 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 （146）   HTML （13）    PDF（pc） （946KB）（2396）       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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Clinicopathological features and prognosis of 17 cases of duodenal-type follicular lymphoma LIU Yingting, YI Hongmei, WANG Xue, YANG Chunxue, OUYANG Binshen XU Haimin, WANG Chaofu Journal of Diagnostics Concepts & Practice    2023, 22 (04): 362-368.   DOI: 10.16150/j.1671-2870.2023.04.005 Abstract （136）   HTML （13）    PDF（pc） （7712KB）（78）       Knowledge map    Save Objective: To investigate the clinicopathological features and prognosis of duodenal-type follicular lymphoma (DFL). Methods: The clinical features, endoscopic appearances, pathological features, and treatments of 17 patients with DFL were retrospectively analyzed and followed up. Results: Among the 17 cases of DFL, there were 8 males and 9 females, with a male-to-female ratio of 1∶1.125. The median age was 58 years (33-67 years). Among them, 13 patients with DFL were found in routine physical examination, and most of them showed granular hyperplasia under endoscopy. Among the cases, 15 (88.2%) occurred in the duodenum, and all were located in the descending part of the duodenum. There were 15 cases of single lesions and 2 cases of multiple lesions. Under the microscope, the lesions were located in the mucosal layer or submucosal layer, with a clear or vague “expansive” growth pattern and visible follicular nodules. The nodules were composed of centrocyte-like cells and scattered centroblast-like cells, equivalent to grade 1 or 2 of classical follicular lymphoma. The tumor cells expressed CD20, CD79a, CD10, BCL6, and BCL2. CD21 staining of 9 cases showed that the follicular dendrite network was densely stained around the neoplastic follicles, but lightly stained and sparse in the center. Ki-67 expression was low. Four cases underwent second-generation gene sequencing, among which three cases had detected CREBBP gene mutations. Fourteen cases did not receive any treatment, and disease did not progress. One case underwent local intestinal segment resection without postoperative chemotherapy or radiotherapy and did not relapse. One case received chemotherapy and rituximab treatment, and the lesion completely disappeared. Conclusions: Most of DFL lesions are single lesions with microscopic manifestations similar to those of typical follicular lymphoma grade 1 or grade 2. The special immunophenotype is CD21, which is often more dense and deeply stained around the neoplastic follicles, and has inert biological behavior. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Advances in laboratory diagnosis of autoimmune bullous dermatoses WU Xinyi, PAN Meng, ZHUN Haiqin Journal of Diagnostics Concepts & Practice    2023, 22 (03): 306-310.   DOI: 10.16150/j.1671-2870.2023.03.16 Abstract （130）   HTML （3）    PDF（pc） （925KB）（154）       Knowledge map    Save Autoimmune bullous dermatoses (AIBD) are associated with autoantibodies against structural components in the skin and mucous membranes. Pemphigus diseases are associated with autoantibodies against the components of desmoglein, while pemphigoid diseases are associated with autoantibodies targeting the structural proteins of the dermal‐epidermal junction. Depending on the components targeted by the autoimmune system, treatments for the two types of diseases are different, so laboratory diagnosis is required for identification. Traditional laboratory diagnosis methods include direct immunofluorescence (DIF), indirect immunofluorescence (IIF), enzyme‐linked immunosorbent assay (ELISA) and immunoblotting (IBT). In recent years, new technologies have emerged. The low‐cost and efficient BIOCHIP technology simplifies the interpretation of IIF, and detection rates of Dsg3 and BP180 are as high as 97%-100% and 94% respectively. EUROTideTM technology is more sensitive and specific than traditional DIF methods, with less background fluorescence. MESACUP anti-Skin profile TEST (ASPT) can detect multiple antibodies simultaneously, and the detection specificity for Dsg1 and Dsg3 reaches 100%. Lateral flow immunoassay (LFIA) can be used for rapid qualitative testing and results can be checked visually. Chemiluminescence enzyme immunoassay is highly automated and efficient, with 94%-99% compliance rate compared with ELISA. Fluorescence overlay antigen mapping using laser‐scanning confocal microscopy (FOAM‐LSCM) can differentially stain different components of the skin basement membrane zone by one‐ime, which is more efficient than the traditional manual DIF method, and is useful for diagnosing the AIBD that is difficult to differentiate from bullous pemphigoid or acquired epidermolysis bullosa under traditional methods. Laboratory diagnostic technology plays an important role in the treatment and prognosis of AIBD. Based on traditional laboratory methods, this article compares and discusses the value of new technologies in the diagnosis of AIBD. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Analysis of ultrasonographic features of thyroid lymph nodes associated with positive thyroglobulin in fine needle aspiration eluent of metastatic lymph nodes KUANG Lijun, TAO Lingling, ZHAN Weiwei, LI Weiwei, FAN Jinfang, ZHOU Wei Journal of Diagnostics Concepts & Practice    2023, 22 (03): 255-260.   DOI: 10.16150/j.1671-2870.2023.03.08 Abstract （122）   HTML （2）    PDF（pc） （1376KB）（133）       Knowledge map    Save Objective: To explore the ultrasonographic characteristics of lymph nodes associated with positive fine-needle aspiration thyroglobulin (FNA-Tg) in eluent for suspected metastatic lymph nodes of papillary thyroid carcinoma (PTC). Methods: A total of 87 patients with PTC who were treated between January 2019 and December 2021 were selected, with 109 suspected metastatic lymph nodes examined by fine needle aspiration cytology and detected for FNA-Tg. Those with FNA-Tg/serum Tg>1 was defined as metastastic lymph nodes, and with FNA-Tg/serum Tg≤1 was defined as non-metastastic lymph nodes. All suspicious lymph nodes had ultrasonographic signs of suspicious metastasis, including local hyperechogenicity, cystic change, absence of hilum, microcalcification, solbiati index <2, and marginal blood supply. Univariate and multivariate logistic regression were applied to analyze the correlation of these suspicious lymph node ultrasound signs with positive FNA-Tg. Results: Among 109 suspected metastatic lymph nodes, 30 lymph nodes were FNA-Tg negative and 79 were FNA-Tg positive. Among the ultrasonographic features of suspected metastatic lymph nodes, local hyperecho and cystic change were independent risk factors for positive FNA-Tg detection(P<0.05). Conclusions: For suspected metastatic lymph nodes with local hyperecho and cystic changes in conventional ultrasound, FNA-Tg determination can be performed along with fine needle aspiration cytology examination to improve the detection rate of PTC metastatic lymph nodes,providing more accurate diagnostic information for the clinic. 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 （118）   HTML （9）    PDF（pc） （991KB）（2323）       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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Clinical and imaging manifestations of Erdheim-Chester disease （six cases） YIN Yongfang, TANG Yonghua, LIANG Yan, CHEN Zhiren, FEI Xiaochun Journal of Diagnostics Concepts & Practice    2023, 22 (03): 283-291.   DOI: 10.16150/j.1671-2870.2023.03.12 Abstract （116）   HTML （3）    PDF（pc） （11533KB）（44）       Knowledge map    Save Objective: To investigate the clinical and imaging characteristics of an inflammatory myeloid neoplasm-- Erdheim-Chester disease (ECD). Methods: The clinical and imaging data from 6 patients with pathology -confirmed ECD visited Ruijin Hospital, Shanghai Jiao Tong University during March 2019 to February 2022 were retrospectively analyzed. Results: The age of 6 ECD patients ranged from 11 to 64 years, of which 4 were young, aged 11 to 33 years. The ratio of male to female was 2∶1. The main symptoms were central diabetes insipidus（2 cases）, ataxia（2 cases）, lower limb pain （3 cases）and periorbital yellow plaques （3）. The skeletal system was involved in 5 of 6 cases. All 6 cases involved extra-skeletal systems, including skin and subcutaneous soft tissue (n=5), central nervous system (n=2), cardiovascular system (n=2), chest (n=2, including 1 with lung adenocarcinoma), retroperitoneal mass (n=1) and renal fibrosis (n=1).Among 6 cases of ECD, 2 cases were diagnosed as ECD on the imaging, and 1 case as xanthogranuloma in the eye, and 3 other cases that could not tell on the imaging. For clinical diagnosis,2 patients were clinically misdiagnosed as having malignant tumors, but the disease type was not clearly identified. A case with false negative result in both lower limbs on initial X-ray imaging, and CT examination showed bone sclerosis. In patients with ECD, the characteristic X-ray and CT findings of the skeletal system were symmetric bone sclerosis of the long bones of both upper and lower limbs, while non-characteristic X-ray and CT findings were osteolytic bone destruction. Multiple extra-skeletal lesions showed abnormalities in density, signal and radioactivity concentration. Conclusions: Erdheim-Chester disease usually presents with central diabetes insipidus and ataxia, accompanied by cutaneous xanthogranuloma and other skin lesions. The main imaging manifestation of ECD is osteosclerosis of both lower extremities, with multiple system involvement. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Establishing reference intervals of four routine coagulation indicators in healthy Chinese adults YAO Yong, DONG Zhenghua, FAN Houzhen, GAO Yunqin, LIU Qian, WU Jun Journal of Diagnostics Concepts & Practice    2023, 22 (04): 379-384.   DOI: 10.16150/j.1671-2870.2023.04.008 Abstract （116）   HTML （6）    PDF（pc） （963KB）（80）       Knowledge map    Save Objective To establish four coagulation indicators suitable for Chinese adults, including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT) and fibrinogen (FIB). Methods Representative medical institutions from East and North China were selected. A total of 668 Chinese healthy adults were enrolled from Shanghai Oriental Hospital (South Campus), Beijing Jishuitan Hospital and Linyi Hospital of Traditional Chinese Medicine in this study. The cobas t 711 platform was used to detect the four coagulation indicators, and reference intervals were established based on the results. Results The reference interval applicable to all enrolled population was established: APTT (s): 26.6-43.6 s, PT (s): 7.67-10.5, TT (s): 14.5-19.2, FIB (mg/dL): 193-419. The four coagulation indicators were statistically different in different regions, genders and ages. In the gender analysis, difference in PT was the most significant (P<0.001). PT and APTT were higher in the male group, and FIB was higher in the female group; Taking ≤50 years as the cut-off age, APTT, FIB were statistically higher in the elderly group (>50 years old); There were statistical differences in APTT, FIB, PT, and TT in different regions (Shanghai, Beijing, and Shandong) (P<0.001). The median APTT and FIB were highest in Shanghai (P<0.001), the median PT was highest in Beijing (P=0.001), and the median TT was highest in Shandong. Conclusions The reference interval of four coagulation indicators suitable for Chinese healthy adult population is established. Factors that influencing the reference intervals include region and age. Reference intervals between male and female overlaps,and reference intervals establishment depends on laboratory conditions, influencing factors (region, and age) on coagulation management. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Multiple radiology imaging techniques in the diagnosis of gout LI Xiaoshi, QIN Yue Journal of Diagnostics Concepts & Practice    2023, 22 (03): 311-318.   DOI: 10.16150/j.1671-2870.2023.03.17 Abstract （109）   HTML （3）    PDF（pc） （3764KB）（82）       Knowledge map    Save Gout is a common metabolic rheumatism. The main cause is the increase of blood uric acid caused by the disorder of purine metabolism in the body. Long-term persistent hyperuricemia will lead to the precipitation of monosodium urate (monosodium urate, MSU) crystals, which will form and deposit in the internal and external tissues of the joints. Due to the action of inflammatory factors, eventually gouty arthritis. Gout is a widespread disease worldwide, and the prevalence of gout in my country is increasing year by year. Gout is a chronic disease that is often characterized by extreme pain in its acute phase and, in some cases, invades the bone, leading to bone erosion and destruction. Complications of chronic gout include severe bone and joint damage, necrotizing swelling of soft tissue, and bone infection. In severe cases, it can even cause tendon rupture and loss of joint function. Gout is an important disease that seriously endangers the health of the Chinese people. Early diagnosis and intervention of gout are very important. Imaging is not only helpful in diagnosing gout, but can also be used as a monitoring method to evaluate the disease and the effect of uric acid-lowering therapy. Dual-energy CT technology is the most promising technology for non-invasive diagnosis and disease monitoring, and MRI texture analysis technology can also assist in the differential diagnosis of gouty arthritis. This review discusses the role of various imaging tests in gout, focusing on the role of imaging features in gout diagnosis and disease monitoring. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Clinicopathological features of urothelial carcinoma ZHOU Xiaodie, CHEN Weiwei, YU Bo, WANG Xuan, WANG Jianjun, SHI Qunli, RAO Qiu, BAO Wei Journal of Diagnostics Concepts & Practice    2023, 22 (03): 292-299.   DOI: 10.16150/j.1671-2870.2023.03.13 Abstract （107）   HTML （2）    PDF（pc） （7771KB）（66）       Knowledge map    Save Objective: This paper aims to investigate the clinicopathological features of bladder cancer (UBUC) and upper urinary tract cancer (UTUC). Methods: A total of 115 patients with urothelial carcinoma (UC) admitted to Jinling Hospital and Nanjing Drum Tower Hospital from May 2017 to February 2020 were randomly selected and retrospectively analyzed, including 80 cases of UBUC and 35 cases of UTUC. The differences in clinicopathological characteristics between the two groups were analyzed by chi-square test and Fisher’s exact test. Kaplan-Meier method and Log-rank test were used for survival analysis, and Cox proportional hazards model was used for multivariate analysis. Results: Female patients were more common in UTUC (28.6% vs. 10.0%, P=0.012). UBUC was more likely to have neural invasion (33.7% vs.5.7%, P=0.002), vascular invasion (45.0% vs. 20.0%, P=0.011), and carcinoma in situ (23.7% vs. 2.9%, P=0.007). The main histological variants of UBUC were micropapillary differentiation (31.3%), squamous differentiation (25.0%) and adenoid differentiation (12.6%), while poorly differentiated carcinoma (33.3%), sarcomatoid differentiation (22.2%) and neuroendocrine differentiation (22.2%) were more common in UTUC. Survival analysis showed that there was no significant difference in overall survival (OS) between UTUC and UBUC (P>0.05). Neural invasion, vascular invasion, clinical stage, and lymph node metastasis are associated with OS in UC, and vascular invasion and neural invasion are independent predictors of overall survival in UC. Conclusions: Compared with UBUC, the incidence of UTUC in women is significantly higher than that in men, while UBUC is more likely to have neural invasion, vascular invasion and carcinoma in situ. Histological variants of UBUC are micropapillary, squamous and adenoid, while UTUC is mostly poorly differentiated carcinoma, sarcomatoid and neuroendocrine differentiation. There is no significant difference in prognosis between the two groups. Vascular invasion and neural invasion are significant predictors of UC-OS. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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Analysis of global burden of bacterial infections: an interpretation of Global mortality associated with 33 bacterial pathogens in 2019 ZHANG Ying, JIANG Xiaofei Journal of Diagnostics Concepts & Practice    2023, 22 (06): 541-549.   DOI: 10.16150/j.1671-2870.2023.06.005 Abstract （101）   HTML （1）    PDF（pc） （1585KB）（43）       Knowledge map    Save The Global Burden of Bacterial Infections report showed that in 2019, there were approximately 13.7 million deaths worldwide due to infection (95% UI ranging from 10.9 million to 17.1 million), and bacterial infection related deaths accounted for 13.6% (10.1%-18.1%) of global deaths, making it the second leading cause of death globally, second only to ischemic heart disease. Eleven infectious syndromes involve 33 bacterial pathogens and are associated with 7.7 million deaths worldwide (5.7 million to 10.2 million). Lower respiratory tract infections have caused approximately 4 million deaths worldwide (3.33 million to 4.89 million), with Streptococcus pneumoniae causing the most deaths at 653 000 (553 000 to 777 000); Blood flow infections have caused 2.91 million people (1.74 million to 4.53 million), with Staphylococcus aureus causing the most deaths, at 299 000 people (166 000 to 485 000); Peritoneal and intra-abdominal infections have caused 1.28 million deaths (826 000 to 1.86 million), with Escherichia coli causing the most deaths, reaching 290000 (188 000 to 423 000). The Global Burden of Bacterial Infections report also shows that in 2019, Staphylococcus aureus was associated with over 1 million deaths (resulting in 1.105 million deaths); Escherichia coli causes 450 000 (329 000 to 602 000) female and 500 000 (355 000 to 684 000) male deaths worldwide, while Streptococcus pneumoniae causes over 750 000 deaths worldwide; Klebsiella pneumoniae causes over 750 000 deaths worldwide; Pseudomonas aeruginosa has caused over 500 000 deaths worldwide. The Global Burden of Bacterial Infections report data shows that the pathogens most associated with mortality worldwide vary by age. Staphylococcus aureus is the deadliest pathogen among people aged 15 and above, with 940 000 deaths (682 000 to 1 276 000) in this age group; Salmonella typhi is most associated with mortality in children aged 5-14, with a death toll of 49 000 (23 000-86 000); Streptococcus pneumoniae is most associated with the death of newborns to 4-year-old children, with a death toll of 225 000 (180 000 to 281 000). The Global Burden of Bacterial Infections report estimates the mortality rates of various pathogens and infectious syndromes, some of which were previously unknown and some were severely underestimated, especially in low-and middle-income countries where the burden is disproportionately high. However, there is a lack of corresponding data and research in China, and it is necessary to conduct corresponding surveys and research to develop innovative strategies. Table and Figures | Reference | Related Articles | Metrics | Comments（0）

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The application value of determination of hemostasis and thrombosis in tumor patients WANG Yanchun, LU Renquan Journal of Diagnostics Concepts & Practice    2023, 22 (04): 341-347.   DOI: 10.16150/j.1671-2870.2023.04.003 Abstract （100）   HTML （4）    PDF（pc） （913KB）（65）       Knowledge map    Save Abnormal coagulation function is an important feature of the occurrence and development of malignant tumors. Tumor cells release pro-angiogenic factors that cause vascular endothelial damage and induce platelet activation and proliferation, all of which increase the risk of thrombosis. Cancer patients often present with shortened APTT and PT, elevated fibrinogen, D-dimer and platelet counts, and a hypercoagulable state. With thrombosis forms, the fibrinolytic system is activated, and D-dimer and fibrin degradation product (FDP) increase. Both are commonly used markers of the fibrinolytic system. FDP/D-dimer ratio may improve the accuracy of diagnosing thrombosis or bleeding. New coagulation markers, such as platelet function and platelet surface markers, can be used to assess platelet activation. During the hypercoagulable state and the fibrinolysis process of tumors, four new thrombosis factors are discovered: thrombin-antithrombin (TAT), plasmin α2-plasmin inhibitor complex (PIC), tissue plasminogen activator-inhibitor 1 complex (t-PAIC) and thrombomodulin, which can be used as diagnostic markers for malignant tumors and thrombosis. Thromboelastography simultaneously reflects coagulation factor activity, fibrinogen activity, platelet counts and function, and demonstrates the overall dynamic process of coagulation and fibrinolysis. The 6 traditional coagulation tests combined with platelet count, the 4 new thrombosis tests combined with D-dimer and FDP tests, as well as various thrombosis risk assessment models, play an important role in the prognosis assessment of different tumors. With the development of artificial intelligence and new indicators, the application prospects of coagulation abnormality detection will be broader. Reference | Related Articles | Metrics | Comments（0）

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Clinical application of circulating tumor cells in gastric cancer: advances and prospects LI Yilin, CHEN Yang, LI Yanyan, FENG Xujiao, ZHANG Cheng, LI Jian, SHEN Lin Journal of Diagnostics Concepts & Practice    2023, 22 (04): 332-340.   DOI: 10.16150/j.1671-2870.2023.04.002 Abstract （89）   HTML （5）    PDF（pc） （942KB）（94）       Knowledge map    Save Malignant tumors seriously threat the health of the Chinese population. Circulating tumor cell (CTC), as molecular markers in liquid biopsy, have the advantage of being non-invasive and longitudinal monitoring of tumor progression and efficacy. In vitro CTC enrichment detection methods are divided into two types: based on molecular characteristics and based on physical characteristics. In recent years, a series of comprehensive CTC enrichment methods targeting different molecular characteristics have been developed, as well as the use of subtraction enrichment and immunostaining-fluorescence in situ hybridization (SE-iFISH) for enrichment detection of gastric cancer CTC. Microfluidic technology can separate and enrich CTC on the same chip based on their molecular and physical characteristics simultaneously, helping to achieve more efficient and sensitive CTC enrichment detection. Compared with the in vitro CTC enrichment platform, the in vivo CTC enrichment platform has higher capture efficiency and detection sensitivity, but it is an invasive examination, and the impact on patients still needs further study. High CTC level is closely related to the disease control rate after gastric cancer chemotherapy and is an independent predictor of poor prognosis in gastric cancer patients. Among non-metastatic malignancies, increased CTC counts after surgery in patients with esophageal cancer and colorectal cancer are strongly associated with worse overall survival. Since CTC are highly heterogeneous, changes in CTC can be longitudinally monitored to provide a reference for the treatment of malignant tumors. Research on gastric cancer has shown that the positivity rate, size of circulating tumor microemboli (CTM) and gene expression level of CTC are closely related to the ability of invasion, metastasis, drug resistance and prognosis. The dynamic metastasis process and pattern of CTC play an important role in tumor metastasis. For the detection of CTC, it is necessary to establish unified standards and verification methods, and develop multi-omics research technology. Reference | Related Articles | Metrics | Comments（0）