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    China Alzheimer Report 2024
    WANG Gang, QI Jinlei, LIU Xinya, REN Rujing, LIN Shaohui, HU Yisong, LI Haixia, XIE Xinyi, WANG Jintao, LI Jianping, ZHU Yikang, GAO Mengyi, YANG Junjie, WANG Yiran, JING Yurong, GENG Jieli, ZHI Nan, CAO Wenwei, XU Qun, YU Xiaoping, ZHU Yuan, ZHOU Ying, WANG Lin, GAO Chao, LI Binyin, CHEN Shengdi, YUAN Fang, DOU Ronghua, LIU Xiaoyun, LI Xuena, YIN Yafu, CHANG Yan, XU Gang, XIN Jiawei, ZHONG Yanting, LI Chunbo, WANG Ying, ZHOU Maigeng, CHEN Xiaochun, representing the China Alzheimer's Disease Report Writing Group
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 219-256.   DOI: 10.16150/j.1671-2870.2024.03.001
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    With the sustained growth of economy and significant changes in social demographics, the issue of elderly-related diseases has increasingly drawn attention particularly. Alzheimer's disease (AD),as a representative disease of neurodegenerative diseases has become a major challenge, affecting the health and quality of life among the elderly population severely. In recent years, the incidence, prevalence, and mortality rate of AD increase in China, imposing substantial economic burdens on families, society, and the entire healthcare system. To proactively address this challenge and respond to the national 'Healthy China Action' initiative, leading experts from Renji Hospital, Shanghai Jiao Tong University School of Medicine,and Chinese Center for Disease Control and Prevention Chronic Non-communicable Disease Control Center, Fudan University School of Public Health, Shanghai Mental Health Center, Ruijin Hospital,Shanghai Jiao Tong University School of Medicine, Fujian Medical University, and other authoritative institutions, have jointly authored the 'China Alzheimer Disease Report 2024'. Building upon previous editions of 2021, 2022, and 2023, this report updates epidemiological data on AD in China, thoroughly analyzes the latest economic burdens of the disease, and comprehensively evaluates the current status of AD diagnosis and treatment services, as well as the allocation of public health resources in our country. The release of the 'China Alzheimer Disease Report 2024' not only reflects China's progress and efforts in AD research and prevention, but also underscores the social heightened concern for elderly health issues. It aims to provide scientific and technical guidance and robust data support for the prevention, diagnosis, and treatment of AD, offering a professional basis for the government and relevant departments to formulate targeted health policies and intervention measures. Furthermore, it serves as a platform for promoting academic exchanges and cooperation in this field domestically and internationally. Through the dissemination and application of this report, we anticipate it will not only serve as a reference for professionals but also enhance public awareness of AD, promote active participation across various sectors of society, and jointly advance the development of elderly health care in China, empowering us towards achieving 'healthy aging'.

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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
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    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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    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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    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
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    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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    The consensus on the diagnosis and treatment of elderly myelodysplastic neoplasm in China (2024)
    MDS Professional Committee of Hematology Branch of Chinese Geriatrics Society
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 285-296.   DOI: 10.16150/j.1671-2870.2024.03.006
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    Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid tumours originating from haematopoietic stem/progenitor cells, with a high prevalence in the elderly. Epidemiological surveys in Europe and the United States have revealed that the incidence of MDS is (4-5)/100 000, which increases with age,and the median age at diagnosis of MDS patients reaches 73-76 years. In Shanghai, China, according to the World Health Organization (WHO) 2008 diagnostic criteria, the average incidence rate was 1.51/100 000, and the median age of onset of MDS was found to be 62 years old in a survey conducted in 3.9 million people from 2004 to 2007, of which about one-third of the patients would be transformed into acute myeloid leukemia (AML), and 53% of the patients would die due to infections, haemorrhages, or comorbidities triggered by cytopenias. Elderly MDS patients have their own characteristics in terms of both treatment choices and disease prognosis due to more comorbidities and weaker health. Clinical characteristics of elderly MDS patients include slightly higher white blood cell count, haemoglobin level and more bone marrow blasts than those of young patients, while neutrophil count and platelet count are significantly higher than those of young patients; the number of mutations in elderly MDS patients is higher, with an average of 1.8 mutations per patient, among which the mutations in ASXL1, TET2, SF3B1, STAG2, SRSF2 and TP53 are more common; while the number of mutations in younger patients averages 1.2 per person, among which U2AF1, ASXL1 and RUNX1 mutations are more common. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is the only curative treatment for MDS, and myeloablative transplantation is feasible in young patients, but only reduced-intensity conditioning (RIC) allo-HSCT can be performed in elderly patients.The natural course and prognosis of elderly MDS patients varies considerably, and the MDS Composite Prognostic Score, which is composed of the composite age (>70 years old), vulnerability index, and IPSS prognostic subgroups, is able to better predict the tolerance of chemotherapy and adverse treatment effects in MDS patients. This consensus is based on the latest evidence-based data in the study of MDS in the elderly at home and abroad, and has been discussed by the experts of the group, which aims to standardise the diagnosis and the whole management of treatment for elderly MDS patients in China.

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    Interpretation of the 5th edition of the WHO classification of haematolymphoid tumours on MDS and AML
    YE Xiangjun, LU Xingguo
    Journal of Diagnostics Concepts & Practice    2023, 22 (05): 421-428.   DOI: 10.16150/j.1671-2870.2023.05.002
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    In 2022, the World Health Organization (WHO) proposed the 5th edition of the WHO Classification of Haematolymphoid Tumours (referred to as the 5th ed. WHO classification) based on the accumulated research results and clinical application progress in related fields after the revised 4th Edition of the WHO classification. Myelodysplastic neoplasms/syndrome (MDS) and acute myeloid leukemia (AML) in the 5th ed. edition of the WHO classification. In practice in WHO classification has major changes from the revised 4th, it is of great significance for clinical disease diagnosis and treatment, as well as disease registration and scientific research. This article is interpreted based on the fifth edition of the classification published in the journal Leukemia and online ahead of print version on the official website of the International Agency for Research on Cancer.

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    Summary and interpretation of the World Health Organization “Global Report on Hypertension”
    ZHANG Dongyan, LI Yan
    Journal of Diagnostics Concepts & Practice    2024, 23 (03): 297-304.   DOI: 10.16150/j.1671-2870.2024.03.007
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    In 2023, the World Health Organization (WHO) released the first document of “Global report on hypertension—The race against a silent killer”. which covers the global prevalence and management of hypertension, analyzes the mortality and disease burden caused by hypertension, explores the risk factors for hypertension, evaluates the cost-effectiveness of blood pressure treatment, and presents successful examples of hypertension management in many countries, especially the global implementation of the WHO-launched HEARTS project for hypertension control. Hypertension is a significant global public health challenge with severe health implications. Over the past 30 years, the number of people with hypertension (defined as systolic blood pressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg, or taking antihypertensive medication) has doubled, rising from 650 million in 1990 to 1.3 billion in 2019. Among the global hypertensive population aged 30-79, approximately 54% have been diagnosed, of which 42% are receiving antihypertensive treatment, and only 21% have controlled blood pressure. In 2019, elevated systolic pressure was responsible for over half of cardiovascular disease deaths globally. Increasing the global hypertension control rate to 50% could prevent 76 million deaths from 2023 to 2050. Population-level risk factors for hypertension include high salt and low potassium intake, alcohol consumption, physical inactivity, and air pollution. WHO advocates for the prevention and control of hypertension through measures such as reducing dietary sodium intake, increasing potassium intake, limiting alcohol consumption, quitting smoking, increasing physical activity, and improving air quality. In terms of treatment, WHO guidelines recommend antihypertensive medication for individuals with systolic blood pressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg. For specific populations, it is also recommended to start antihypertensive treatment when systolic blood pressure is between 130-139 mmHg. The use of single-pill combination therapy is also advised to improve adherence and persistence in treatment. The prevalence and management of hypertension in China are also noteworthy. Hypertension is a major cause of mortality and disease burden in the Chinese population. By learning from global successes in hypertension management, China can enhance its efforts in the prevention, control, and monitoring of hypertension, particularly by promoting the application of the HEARTS technical package to improve hypertension management. This report aims to draw attention to major non-communicable diseases, particularly hypertension, as a public health challenge. Through detailed data analysis and successful case studies, the report underscores the importance of hypertension prevention and control, providing scientific evidence for policy-making across countries. This collective effort aims to achieve the global goal of a 25% relative reduction in uncontrolled hypertension prevalence by 2025 compared to 2010. This article will interpret briefly the reports based on the prevalence and management of hypertension in China.

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    Expert consensus on neuroimaging diagnosis of dementia and cognitive impairment (2023)
    Aging and Cognitive Impairment Branch of Shanghai Society of Aging and Degenerative Diseases
    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 30-39.   DOI: 10.16150/j.1671-2870.2024.01.005
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    For patients with cognitive impairment as the main clinical manifestation, structural MRI (or CT instead) should be performed first to clarify intracranial lesions and brain atrophy. For patients with specific clinical manifestations, specific MRI sequences is recommended to further assist diagnosis. If the patient is suspected of AD, it is recommended to perform oblique coronal T1WI for MTA grading to score medial temporal lobe atrophy. If the patient is suspected to be caused by vascular factors or special infections (prion proteins), it is recommended to perform diffusion-weighted imaging. If the patient has extrapyramidal symptoms or small vessel disease, especially cerebral amyloid angiopathy or cognitive impairment complicated by diabetes, it is recommended to perform susceptibility-weighted imaging. If a mass is suspicious on MRI, contrast-enhanced MR imaging and MR spectroscopy should be performed. If the patient has amyotrophic lateral sclerosis, it is recommended to perform diffusion tensor imaging. If the patient is suspected to be caused by neurodegenerative diseases, it is recommended to perform 18F-FDG PET and Aβ-PET or tau-PET. Aβ-PET imaging and tau-PET imaging can visualize the degree and scope of pathological protein deposition in the brain, which has important predictive and diagnostic value for dementia and can be used for the differential diagnosis of dementia and staging the disease progression. In addition, resting-state functional magnetic resonance imaging, near-infrared spectroscopy, and some emerging imaging techniques such as cine phase-contrast magnetic resonance imaging, and diffusion tensor image analysis along the perivascular space have been studied in patients with cognitive impairment. It is expected that these technologies can be used in the future to better assist the diagnosis and differential diagnosis of cognitive impairment. It should be noted that neuroimaging does not represent the complete diagnosis and clinical symptoms of the disease and must be interpreted with caution.

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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
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    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 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
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    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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    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
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    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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    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
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    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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    Advances in tumour markers for diagnosis of hepatocellular carcinoma
    DAI Jingyi, JIANG Jingting
    Journal of Diagnostics Concepts & Practice    2023, 22 (05): 486-493.   DOI: 10.16150/j.1671-2870.2023.05.011
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    According to the data from the Chinese Centre for Disease Control and Prevention, the liver cancer ranks second among malignant tumour deaths in China, with a high mortality rate. Liver cancer is characterized by difficult of early diagnosis (about 50% of patients missed), high malignant level, strong heterogeneity, and rapid progression. Early diagnosis can help patients seize the best chance for treatment, reduce the damage to the body, improve the treatment effect, and prolong survival. The main pathological type of liver cancer is hepatocellular carcinoma(HCC). Commonly used clinical tumour markers for HCC include α-fetoprotein (AFP), protein induced by vitamin K deficiency or antagonist-Ⅱ (PIVKA-Ⅱ), a-L-fucosidase (AFU), etc., which are simple and efficient. However, due to the heterogeneity of liver cancer, the marker levels in some patients were not abnormal, and 52% of HCC patients with small tumours (<3 cm) were AFP-negative, which affected the diagnostic accuracy of HCC. Therefore, some novel tumour markers have been discovered, including circulating tumour cells (CTCs), circulating cell-free nucleic acids [including circulating cell-free DNA (cfDNA) and microRNAs (miRNAs)], and exosomes. It revealed that 90.81% of CTC positive HCC patients (including early disease patients) can detect very small HCC nodules after 3-5 months of follow-up, indicating a high correlation between CTC and HCC characteristics. Postoperative monitoring of CTC levels can predict HCC recurrence before clinical detection of recurrent nodules; cfDNA can serve as an effective tool for early diagnosis of HCC, and detecting mutations in ctDNA can guide targeted therapy; miRNA can serve as a biomarker for diagnosing diseases and monitoring disease progression and prognosis; The joint detection of AFP and lncRNAs panel (including three circulating exosome sources of long chain non coding RNAs: ENSG00000248932.1, ENST000000440688.1, ENST000000457302.2) showed higher sensitivity and specificity than the single detection of AFP (AUC: 0.910 and 0.408), which can predict the occurrence of HCC and dynamically monitor HCC metastasis.However, these new tumour markers still have some limitations such as high false-negative rate at low levels, and limitation in stability due to the lack of standardized pre-analytical variables and analytical variables. These tumour markers are still not recommended to be used independently for early screening, monitoring or large-scale clinical application of HCC, and can only be used as a supplement to traditional diagnostic methods. This article reviewed the research progress of tumour markers in the diagnosis of HCC in recent years, summarized the efficacy of traditional tumour markers (AFP, PIVKA-Ⅱ. and AFU, etc.), introduced the research progress and clinical application of new tumour markers (CTC, cfDNA, ctDNA, miRNA and exosomes, etc.), and looked forward to improving the accuracy of HCC diagnosis in the future.

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    Trends in global major disease burden and health conditions—interpretation of the Global Burden of Disease Study 1990-2021
    FAN Bonan, LI Yan
    Journal of Diagnostics Concepts & Practice    2024, 23 (05): 474-483.   DOI: 10.16150/j.1671-2870.2024.05.003
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    The Global Burden of Disease Study 2021 (GBD 2021) analyzed 371 diseases and injuries using 100,983 data sources, estimating years lived with disability, years of life lost, disability-adjusted life years, and healthy life expectancy. From 1990 to 2019, the annual rate of change in global all-cause mortality ranged from -0.9% to 2.4%, while deaths increased by 10.8% and 7.5% in 2020 and 2021 respectively due to COVID-19. In 2021, COVID-19 was the second lea-ding cause of death globally, with a mortality rate of 94.0 per 100 000. The mortality rates of other major causes, such as ischemic heart disease and stroke were 108.7 and 87.4 per 100 000, respectively. Global life expectancy rose from 65.5 years in 1990 to 73.3 years in 2019 but dropped to 71.7 years in 2021 due to COVID-19, which reduced life expectancy by 2.2 years, significantly impacting the trend of health improvement. In China, GBD 2021 data shows a significant increase in life expectancy from 1990 to 2021: from 69.9 to 80.7 years for women and from 65.7 to 74.9 years for men. However, non-communicable diseases such as cardiovascular diseases, cancers, and chronic respiratory diseases remain major health threats. In 2021, these diseases had the highest burden among the top ten causes in China, with rising incidence and morta-lity rates. Major health risk factors in China include tobacco, hypertension, and dietary risks. This paper, through the systematic analysis of GBD 2021 data, reveals current trends in disease burden globally and in China, and proposes public health strategy recommendations. China should enhance chronic disease management, improve public health emergency responses, address health inequalities, and promote basic research and international cooperation to improve overall health levels.

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    Advances in the study of tsRNA as diagnostic and prognostic biomarkers in cancer
    WANG Shukui, GU Xinliang
    Journal of Diagnostics Concepts & Practice    2023, 22 (05): 413-420.   DOI: 10.16150/j.1671-2870.2023.05.001
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    Transfer RNA (tRNA) promotes the protein translation process by binding with corresponding amino acids and transporting them to the ribosome, emphasizing the vital role of tRNA in protein translation. Transfer RNA-derived small RNA (tsRNA) are fragments originating from tRNA and are produced when these tRNA are cleaved. As the degradation products of tRNA, tsRNA retain significant biological functions, notably in regulating gene expression and modulating translation. Recent researches have highlighted the dual regulatory role of tsRNA in oncology, especially their pronounced variations in the bodily fluids of cancer patients, accentuating the potential of tsRNA as biomarkers for cancer diagnosis and prognosis. Upregulation of tsRNA and 5'tiRNA His GTG related to colorectal cancer promotes tumor occurrence and development; Upregulation of 5 '-tiRNA Val generated by angiopoietin cleavage promotes tumor metastasis and growth; Upregulation of tRF-20-MEJB5Y13 promotes the migration and invasion of colorectal cancer cells. Upregulation of gastric cancer related tsRNA, tRF-19-3L7L73JD, can promote the progression of malignant tumors, while upregulation of tRF-24-V29K9UV3IU, tRF-5026a, and tRF-Val may inhibit tumor proliferation and progression. In terms of clinical application, the expression of plasma 5-tRF-GlyGCC is increased, and the area under the curve for diagnosing colorectal cancer is 0.882. The plasma tRF-5026a is decreased, and the area under the curve for diagnosing colorectal cancer is 0.883. The expression of tRF-27-FDXXE6XRK45, tRF-29-R9J8909NF5JP, and tRF-23-Q99P9P9NDD in the serum of gastric cancer patients was significantly increased. The area under the diagnostic curve for gastric cancer was 0.805, 0.889, and 0.783, respectively; The serum tDR ‐ 000620 in triple negative breast cancer decreased, which was related to lymph node metastasis and disease recurrence. In the plasma exosomes of gastric cancer patients, the expression of tRF-38, tRF-25, and tRF-18 is elevated, which can be used for diagnosis and may be a postoperative predictive factor. The expression levels of tRNA ValTAC-3, tRNA GlyTCC-5, tRNA ValAAC-5, and tRNA GluCTC-5 in the plasma exosomes of liver cancer patients have significantly increased, which may be emerging biomarkers.This article reviews the biogenesis, classification, and biological functions of tsRNA, emphasizing the advancements in their application as tumor biomarkers and delineating their roles across various cancer types, offering insights into their utility in oncological research and clinical applications.

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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
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    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.

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    Journal of Diagnostics Concepts & Practice    2023, 22 (05): 507-512.   DOI: 10.16150/j.1671-2870.2023.05.014
    Abstract188)   HTML7)    PDF(pc) (859KB)(1522)       Save
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    Interpretation of the “2022 World Hemophilia Annual Report” by the World Federation of Hemophilia
    ZHU Lijun, ZHENG Changcheng
    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 40-45.   DOI: 10.16150/j.1671-2870.2024.01.006
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    The World Federation of Hemophilia (WFH) released its new Annual Global Survey (AGS) in October 2022. The report sets goals for diagnosis and treatment of hereditary bleeding disorders, including a 25% increase in the diagnosis rate of hemophilia and a 14% increase in the diagnosis rate of von Willebrand disease (vWD) patient by 2025. It also aims to provide appropriate care and treatment particularly by increasing the rate of prophylactic treatment for severe hemophilia patients under the age of 18 by 25%, and continuing to provide humanitarian aid to at least 20 000 patients annually through the WFH. The AGS 2022 estimates the annual average prevalence of hemophilia worldwide, with hemophilia A (HA) at 17.1 per 100 000 males, including severe HA at 6.0 per 100 000 males; and hemophilia B (HB) at 3.8 per 100 000 males, including severe HB at 1.1 per 100 000 males. Based on the world population (7.9 billion, with 4 billion males), it is estimated that the global prevalence of hemophilia is around 10.6 per 100 000, with a total of 830 895 individuals with hemophilia worldwide, of which approximately 282 266 are severe cases. The prevalence rate of hemophilia in China is between 2.73 and 3.09 per 100 000, which is lower than that of the global average. It is indicated in the report that there are 11 700 female hemophilia patients, accounting for 5% of the total number of hemophilia patients; and there are 54 066 female vWD patients, accounting for 56% of the total vWD population, and 34 370 cases of other bleeding disorders in females, highlighting that vWD is the most common bleeding disorder among women. In China, there are a total of 27 689 patients with HA, with the age distribution as follows: 4% aged 0-4 years, 21% aged 5-13 years, 12% aged 14-18 years, 43% aged 19-44 years, 16% aged 45 and above, and 4% with an uncertain age. Compared with low-income countries, high-income countries have a higher diagnosis rate for mild hemophilia and fewer patients with uncertain diagnosis. Patients with hemophilia in low-income countries are at a significant risk of early death. The use of emicizumab for prophylactic treatment in economically developed regions is significantly higher than that in China. There is still a considerable gap between China and European and American countries in the diagnosis and treatment of hemophilia and other bleeding disorders. It is necessary for clinical professionals in China to enhance their understanding of hemophilia and other bleeding disorders and to continuously improve diagnosis and treatment capabilities.

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    Advances in molecular pathology of Ewing sarcoma
    LIU Hengan, WANG Chaofu
    Journal of Diagnostics Concepts & Practice    2023, 22 (06): 587-592.   DOI: 10.16150/j.1671-2870.2023.06.012
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    Ewing sarcoma is a rare malignant small round cell mesenchymal neoplasm with a characteristic FET family-ETS family fusion gene, and is classified as undifferentiated small round cell sarcoma in the fifth revision of the WHO Classification of Tumors of Soft Tissue and Bone (2020). Microscopically, Ewing sarcoma is composed of a monomorphic round cell population, accompanied by different degrees of neuroectodermal differentiation. Although surgery combined with chemotherapy has increased the 5-year survival rate of Ewing sarcoma to about 70%, the 5-year survival rate of patients with metastases at diagnosis is still less than 30%. With the rapid development of molecular pathology, the molecular mechanism of Ewing sarcoma has also become a focus of research. This article reviews the latest research progress on the unique pathological features, molecular mechanisms and genetic diagnostic criteria of Ewing sarcoma, in order to provide a new direction for the clinical diagnosis, treatment and prognosis of Ewing sarcoma.

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    Journal of Diagnostics Concepts & Practice    2024, 23 (01): 96-99.   DOI: 10.16150/j.1671-2870.2024.01.013
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