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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
    Abstract168)   HTML13)    PDF(pc) (946KB)(2427)       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.

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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
    Abstract131)   HTML9)    PDF(pc) (991KB)(2331)       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.

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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
    Abstract2675)   HTML138)    PDF(pc) (2270KB)(2027)       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.

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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
    Abstract380)   HTML8)    PDF(pc) (913KB)(987)       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.

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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
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    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.

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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
    Abstract323)   HTML10)    PDF(pc) (918KB)(424)       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.

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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
    Abstract157)   HTML3)    PDF(pc) (925KB)(206)       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.

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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
    Abstract261)   HTML13)    PDF(pc) (1039KB)(190)       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.

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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
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    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.

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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
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    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.

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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
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    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.

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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
    Abstract139)   HTML2)    PDF(pc) (1376KB)(140)       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.

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    Cytopathologic analysis of thyroid secondary tumors
    YANG Qiao, FU Xin, WANG Zhe, LIU Tantan
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 270-276.   DOI: 10.16150/j.1671-2870.2023.03.10
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    Objective: To observe the cytological pathological features of secondary thyroid neoplasm (STN) by ultrasound-guided fine-needle aspiration(FNA). Methods: A total of 5023 cases of thyroid malignancy diagnosed by FNA cytology in The First Affiliated Hospital of Air Force Medical University from January 2011 to May 2021 were collected. Hematoxylin-eosin (HE) staining, Pap staining and cellular immunohistochemistry (IHC) staining were performed on traditional smears, liquid-based preparation and cell wax blocks made from FNA samples of all these STNs respectively. Using medullary thyroid carcinoma smear as a control, two senior cytopathologists analyzed the cytopathological and cellular immunohistochemical features of STN. Based on clinical practice, the key points of cytopathological differentiation between STN and medullary thyroid carcinoma were summarized. Result: Among 5023 cases of thyroid malignancy, there were 8 cases of STN (0.16%), 33 cases of medullary thyroid carcinoma (0.66%), 4955 cases of papillary thyroid carcinoma (98%), 16 cases of lymphoma (0.32%), 7 cases of squamous cell carcinoma (0.14%), and 2 cases each of anaplastic carcinoma and poorly differentiated carcinoma (0.04%). The 33 cases of medullary carcinoma tumor cells were diverse in morphology, including plasmacytoid cells, epithelioid cells, and fusiform cells, with a small number of bizarre giant cells and amyloid in the background. None of the 8 STNs showed typical nuclear features of thyroid papillary carcinoma, three-dimensional papillary and adenoid structures were seen in 1 case of metastatic lung adenocarcinoma, clusters or scattered heterotypic squamous cells were seen in 4/4 cases of metastatic squamous cell carcinoma, combined with their respective characteristic immunophenotypes, the diagnosis can be confirmed. The cytological morphological characteristics of 2 metastatic breast cancers and 1 metastatic small cell lung carcinoma overlapped with medullary thyroid carcinoma. The cells were all small and hyperchromatic nuclei, which required the detection of immunohistochemical markers including estrogen receptor (ER), Progesterone receptor(PR), Cytokeratin7 (CK7), GATA3, Synaptophysin (Syn), Neural cell adhesion molecule (CD56), Chromogranin A (CgA), Calcitonin (CT), Thyroglobulin(TG), Thyroid transcription factor-1(TTF-1), Paired box gene 8 (PAX-8), and identification were made in the combination with medical history. Conclusions: STN accounts for 0.16% of thyroid malignancies and is relatively rare. In cases with myeloid cancer cell morphology, attention should be paid to the possibility of STN, and differential diagnosis should be made in combination with immunohistochemistry and medical history.

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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
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    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.

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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
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    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.

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    Journal of Diagnostics Concepts & Practice    2023, 22 (05): 507-512.   DOI: 10.16150/j.1671-2870.2023.05.014
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    Establishment and verification of reference range of parameters related to uterine artery measured by ultrasound at 11~40 weeks of pregnancy
    GONG Xiaoping, CAO Yunyun, WANG Haifei, WANG Guanjie, ZENG Min
    Journal of Diagnostics Concepts & Practice    2023, 22 (04): 374-378.   DOI: 10.16150/j.1671-2870.2023.04.007
    Abstract94)   HTML6)    PDF(pc) (900KB)(112)       Save

    Objective: To establish and verify the normal reference range of uterine artery mean pulsatility index (mPI) between 11-40 weeks of pregnancy in low-risk population. Methods: Pregnant women registered in our hospital from January 2019 to July 2023 and underwent ultrasound examination at 11 to 40 weeks were enrolled. By Ultrasound diagnosis, the pulsatility index (PI) of bilateral uterine arteries were measured, and whether there was a notch in the early diastolic period was checked. Following up the pregnancy, basic clinical data and fetal birth information were collected. Results: A total of 1365 low-risk people with normal pregnancy outcomes were included. The 104 cases of adverse pregnancy outcomes were wed to verify the refernce range, including pregnancy included hypertension (n=41) and fetalgrowth restriction (n=23). With the increase of gestation age, mPI showed a gradual downward trend. There was a rapid decline before 20 weeks of gestation (mPI 95th percentile at 11 weeks and 20 weeks of gestation were 2.35 and 1.54, respectively), then declined slowly, and mPI stabilized after 32 weeks of gestation (95th percentile mPI at 32 weeks and 39 weeks of gestation were 0.91 and 0.87, respectively). With the increase of gestation age, the detection rate of early diastolic notch in bilateral uterine arteries decreased gradually. The detection rate was 69.20% at 11-15 weeks of gestation, 27.01% at 21-25 weeks of gestation, then stabilized and decreased to 6.31% at 36-40 weeks of gestation. The results of receiver operating characteristic (ROC) curve analysis showed that the sensitivity and specificity of mPI ≥95th precentile in predicting hypertensive disorder complicating pregnancy were 30.11% and 93.21%, respectively; The sensitivity and specificity in predicting fetal growth restriction were 61.9% and 92.85%, respectively. Conclusions: Establishing the reference range of uterine artery mPI at 11-40 weeks of pregnancy in low-risk population may be used for prospective exclusion of gestational hypertension and fetal growth restriction.

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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
    Abstract137)   HTML4)    PDF(pc) (3764KB)(105)       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.

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    Development of a Nomogram model for early diagnosis of Parkinson disease
    WEI Jian, SUN Jie, CUI Shishuang
    Journal of Diagnostics Concepts & Practice    2023, 22 (03): 277-282.   DOI: 10.16150/j.1671-2870.2023.03.11
    Abstract102)   HTML4)    PDF(pc) (1372KB)(100)       Save

    Objective: To construct a Nomogram model for early diagnosis of Parkinson’s and validate it. Methods: This study consecutively enrolled 201 Parkinson’s patients who were hospitalized in Ruijin Hospital affiliated to Shanghai Jiaotong University between June 2013 and December 2019 as the Parkinson’s group; 201 Patients with chronic neurological diseases of non-primary Parkinson’s disease who were hospitalized during the same period served as the control group. Of the 402 cases, 300 cases (150 Parkinson’s patients and 150 non-Parkinson’s patients) were stratified and randomly selected as the training set. The remaining 102 cases (51 Parkinson’s patients and 51 non-Parkinson’s patients) were used as the validation set. In this study, R software (version 4.2.1) with complete data processing, computation, and graphing capabilities was used to analyze the data in the training set. Univariate logistic regression analysis was used to screen the risk factors for Parkinson’s disease, and multivariate logistic regression analysis and nomogram model construction were further performed. Calibration and ROC curves were used to perform internal and external validation on the training and validation sets respectively. Results: Multivariate Logistic regression analysis showed advanced age(>60) (OR=3.987 95%CI=2.126-7.477 P=0.131), cognitive dysfunction(MoCA score >26) (OR=3.094 95%CI=1.654-5.787 P<0.001), constipation (OR=2.630 95%CI=1.430-4.835 P=0.002), RBD (OR=2.710 95%CI=1.449-5.068 P=0.002), hyposmia (OR=2.117 95%CI=1.172-3.824 P=0.013), and reduced CER(<20 mg/L) (OR=3.356 95%CI=1.923-5.855 P<0.001) were risk factors for Parkinson’s. The Nomogram model was established based on the above risk factors, and the areas under the internal and external validation curves were 0.729 and 0.714, respectively. Conclusions: The Nomogram diagnostic model can effectively assist in diagnosing Parkinson’s disease and has certain clinical application value.

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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
    Abstract118)   HTML4)    PDF(pc) (913KB)(93)       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.

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