25 June 2023, Volume 22 Issue 03 Previous Issue   
Expert forum
Current status and considerations on the diagnosis and treatment of pemphigus in China
PAN Meng, WANG Jingying
2023, 22 (03):  209-214.  DOI: 10.16150/j.1671-2870.2023.03.01
Abstract ( 35 )   HTML ( 5 )   PDF (918KB) ( 18 )  

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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Hot spots in diagnosis of malignant melanoma
WU Nanming, LI Jun, TAO Juan
2023, 22 (03):  215-220.  DOI: 10.16150/j.1671-2870.2023.03.02
Abstract ( 45 )   HTML ( 5 )   PDF (997KB) ( 18 )  

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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Psoriasis comorbidity: prevalence, diagnosis and treatment
SHI Yuling, CHEN Wenjuan
2023, 22 (03):  221-229.  DOI: 10.16150/j.1671-2870.2023.03.03
Abstract ( 49 )   HTML ( 4 )   PDF (1039KB) ( 24 )  

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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Interpretation of guidelines
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
2023, 22 (03):  230-233.  DOI: 10.16150/j.1671-2870.2023.03.04
Abstract ( 39 )   HTML ( 3 )   PDF (913KB) ( 34 )  

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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Phenotypes of chronic obstructive pulmonary disease with preserved ratio impaired spirometry (PRISm)
SUN Xianwen, LI Qingyun
2023, 22 (03):  234-237.  DOI: 10.16150/j.1671-2870.2023.03.05
Abstract ( 31 )   HTML ( 1 )   PDF (904KB) ( 20 )  

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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Academic trend at home and abroad
Interpretation on the report of global stroke data 2022
TANG Chunhua, GUO Lu, LI Qiong, ZHANG Lili
2023, 22 (03):  238-246.  DOI: 10.16150/j.1671-2870.2023.03.06
Abstract ( 120 )   HTML ( 12 )   PDF (2270KB) ( 60 )  

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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Original articles
Clinical characteristics of anti-SRP antibody positive immune-mediated necrotizing myopathy with anti-TRIM21/Ro52 antibody positive
XU Li, GAO Huajie, YANG Mengge, LI Yue, JI Suqiong
2023, 22 (03):  247-254.  DOI: 10.16150/j.1671-2870.2023.03.07
Abstract ( 19 )   HTML ( 3 )   PDF (2467KB) ( 10 )  

Objective: To explore the clinical characteristics of anti-SRP antibody positive immune-mediated necrotizing myopathy (IMNM) with anti-TRIM21/Ro52 antibody positive. Methods: The data of 57 patients with anti-SRP antibody positive (+) IMNM admitted to the Neurology Department at Tongji Hospital between 2010 and 2021 were retrospectively analyzed. Patients were divided into anti-TRIM21/Ro52 antibody-positive group (positive group) and anti-TRIM21/Ro52 antibody-negative group (negative group) according to serum myositis-associated autoantibody (MAA) anti-TRIM21/Ro52 antibody. The clinical characteristics, laboratory test results, outcomes and prognosis of the two groups were compared and analyzed. Results: Patients with anti-SRP antibody(+) IMNM were enrolled, including anti-TRIM21/Ro52 positive patients (n=23, positive group) and anti-TRIM21/Ro52 negative patients (n=34, negative group). Higher prevalence of interstitial lung disease (ILD) (21.7% vs 2.9%; P=0.034) and high titer antinuclear antibodies (69.5% vs 32.3%; P=0.008) were observed in positive group than those in negative group, as well as the serum neutrophil counts(8.18×109/L vs 3.93×109/L, P=0.034)and white blood cell counts(11.685×109/L vs 6.98×109/L, P=0.044). All above indicators were positively correlated with the expression of anti-TRIM21/Ro52 antibody(r=0.312, 0.351, 0.290, 0.274, P=0.019, 0.008, 0.035, 0.043). Fifty-seven patients of anti-SRP antibody (+) IMNM were followed up for 83 (62-96) months. Fifty-one (89.4%) patients received glucocorticoid therapy (or) combination with immunotherapy, and 22 (95.6%) patients in positive group achieved remission, and one patient (4.3%) was lost to follow-up. Among 29 (85.3%) patients of negative group who received immunotherapy, 24 patients (70.6%) were improved, while the remaining 5 patients (14.7%) were not improved, 1 patient (2.9%) was lost to follow-up. Conclusions: Anti-SRP (+) IMNM patients with anti-TRIM21/Ro52 antibody are more likely to be complicated with ILD and have higher inflammatory indicators and ANA titer levels. IMNM patients with anti-TRIM21/Ro52 antibody positive respond well to corticosteroids and immunosuppressive therapy.

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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
2023, 22 (03):  255-260.  DOI: 10.16150/j.1671-2870.2023.03.08
Abstract ( 25 )   HTML ( 2 )   PDF (1376KB) ( 12 )  

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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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
2023, 22 (03):  261-269.  DOI: 10.16150/j.1671-2870.2023.03.09
Abstract ( 20 )   HTML ( 3 )   PDF (991KB) ( 8 )  

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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Cytopathologic analysis of thyroid secondary tumors
YANG Qiao, FU Xin, WANG Zhe, LIU Tantan
2023, 22 (03):  270-276.  DOI: 10.16150/j.1671-2870.2023.03.10
Abstract ( 23 )   HTML ( 2 )   PDF (7484KB) ( 6 )  

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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Development of a Nomogram model for early diagnosis of Parkinson disease
WEI Jian, SUN Jie, CUI Shishuang
2023, 22 (03):  277-282.  DOI: 10.16150/j.1671-2870.2023.03.11
Abstract ( 19 )   HTML ( 1 )   PDF (1372KB) ( 9 )  

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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Clinical and imaging manifestations of Erdheim-Chester disease (six cases)
YIN Yongfang, TANG Yonghua, LIANG Yan, CHEN Zhiren, FEI Xiaochun
2023, 22 (03):  283-291.  DOI: 10.16150/j.1671-2870.2023.03.12
Abstract ( 19 )   HTML ( 2 )   PDF (11533KB) ( 11 )  

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.

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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
2023, 22 (03):  292-299.  DOI: 10.16150/j.1671-2870.2023.03.13
Abstract ( 29 )   HTML ( 2 )   PDF (7771KB) ( 5 )  

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.

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Case reports
A case of tuberculous pericardial effusion confirmed by GeneXpert MTB/RIF combined with literature review
PENG Rong, LI Mu, MA Kuo, GONG Qian
2023, 22 (03):  300-302.  DOI: 10.16150/j.1671-2870.2023.03.14
Abstract ( 15 )   HTML ( 1 )   PDF (1091KB) ( 5 )  

This paper reported a case of tuberculous pericardial effusion which was confirmed by GeneXpert MTB/RIF (Mycobacterium tuberculosis rpoB gene and mutation detection). During the early stage of the diagnosis, the routine anti-infection was ineffective, the pathogenic bacteria was not founded in the case, and tumor or other causes were excluded. The clinical diagnosis was considered as tuberculous pericardial effusion, while multiple tests for acid-fast bacilli was negative. The patient’s pericardial effusion was used to perform GeneXpert MTB/RIF test, and positive (very low dose) result was obtained. Through anti-tuberculous treatment, the pericardial effusion of the patient decreased to a small amount and the symptoms improved significantly after 2 weeks. And 3 months later, the symptoms disappeared. The diagnosis and treatment of the patient suggested that multiple methods should be actively applied during the early stage of clinical diagnosing tuberculous pericardial effusion. Beside traditional acid-fast bacillus smear and mycobacterium culture, the adenosine deaminase (ADA) and GeneXpert MTB/RIFF tests for pericardial effusion and interferon-gamma release assay (IGRA) for blood should be considered.

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Serotonin syndrome induced by anti-parkinsonism drugs:a case report
WU Dongdong, LI Shuhua, SU Wen, LIU Yinghong, CHEN Haibo, CHEN Di
2023, 22 (03):  303-305.  DOI: 10.16150/j.1671-2870.2023.03.15
Abstract ( 17 )   HTML ( 1 )   PDF (980KB) ( 12 )  

Serotonin syndrome (SS) is an adverse drug reaction characterized by neuromuscular hyperexcitability that is mild in most cases but can be life-threatening in some cases. This paper reports a case of a 87-year-old man with Parkinson’s disease who was hospitalized due to pulmonary infection and fever. The clinical symptoms were improved after treatment. Subsequently, his condition fluctuated, including high fever, sweating, disturbance of consciousness, high muscle tone and elevated creatine kinase. After combining his clinical manifestations with his history of concomitant medication, the doctors found that the patient had overdosed on selegiline and had an adverse reaction with anti-infective drug linezolid. The patients was diagnosed having SS promptly and was treated actively and properly, including discontinuation of related medications, and physical cooling, extensive fluid rehydration, and symptomatic supportive treatment. Thus the patient’s condition was effectively controlled within 24 hours. The symptoms were basically improved 3 days after onset and completely relieved 5 days after onset. Prevention is the key point to SS, and clinicians should strengthen their awareness.

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Review articles
Advances in laboratory diagnosis of autoimmune bullous dermatoses
WU Xinyi, PAN Meng, ZHUN Haiqin
2023, 22 (03):  306-310.  DOI: 10.16150/j.1671-2870.2023.03.16
Abstract ( 22 )   HTML ( 1 )   PDF (925KB) ( 11 )  

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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Multiple radiology imaging techniques in the diagnosis of gout
LI Xiaoshi, QIN Yue
2023, 22 (03):  311-318.  DOI: 10.16150/j.1671-2870.2023.03.17
Abstract ( 23 )   HTML ( 1 )   PDF (3764KB) ( 6 )  

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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Research on the application of case teaching method based on clinical pathway in the teaching of ophthalmology preschool physicians
SUN Yue, JINAG Siyu, CHENG Xiuping, YAO Yiyun, ZHU Yanji, SHENG Xi, XIE Bing
2023, 22 (03):  319-322.  DOI: 10.16150/j.1671-2870.2023.03.18
Abstract ( 24 )   HTML ( 1 )   PDF (914KB) ( 4 )  
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