Objective To summarize the advancement of hereditary thrombophilia. Methods Relevant literatures about hereditary thrombophilia published recently domestic and abroad were reviewed and analyzed. Results The hereditary risk factors of venous thromboembolism were different among different races. In western population, the main risk factors were activated protein C resistance (APC-R) and mutation of factor V Leiden, methylene tetrahydrofolate reductase polymorphism (C677T) and prothrombin G20210A. While in Chinese population, the disorder of protein C system and hyperhomocysteinemia were the major genetic risk factor. The existence of multiple genetic risk factors increased the incidence of primary and recurrent venous thromboembolism. Conclusion Further study on the relations between the hereditary risk factors and thrombophilia will be very important for prediction and prevention of the venous thromboembolism.
ObjectiveTo evaluate the effect of health economics of census versus high-risk population screening for tuberculosis in Mianyan city, in order to provide references for the selection of suitable tuberculosis screening method in western region of China. MethodsWe included active tuberculosis patients by residents health screening of 21 villages and towns in Mianyan city from June 2013 to March 2013. Relevant data was analyzed by referencing the National Assessment of Tuberculosis Control Program in 2001-2010. Results184047 residents were screened by tuberculosis census and 128 active tuberculosis patients were diagnosed while 61045 residents were screened by high-risk population screening and 76 active tuberculosis patients were diagnosed. The cost-utility ratio and benefit-cost ratio of tuberculosis census were 6174.17 and 3.84, respectively. The cost-utility ratio and benefit-cost ratio of high risk population screening were 3106.16 and 7.62, respectively. ConclusionHigh-risk population screening has higher cost-utility ratio and benefit-cost ratio than tuberculosis census with higher missed diagnosis. Benefits and harms of tuberculosis detection rate and cost should be fully balanced before tuberculosis screening method were chosen in western underdeveloped region of China.
ObjectiveTo analyze the clinical features, treatment and prognosis of asymptomatic patients with retinoblastoma.MethodsA retrospective series of case study. Eight asymptomatic patients (11 eyes) with the diagnosis of retinoblastoma by screening enrolled in Department of Ophthalmology of The Eye-ENT Hospital of Fudan University from January 2006 to March 2019 were included. There were 6 males and 3 females ranging from 2 days to 20 months, with a median age of 6 months. Five patients were unilateral retinoblastoma while 3 patients were bilateral. Based on the International Classification of Intraocular Retinoblastoma, 4 eyes were stage A, 3 eyes were stage B and 4 eyes were stage C. One patient had family history. Four patients were evaluated the Rb1 mutation. Routine ophthalmic examinations and ultra-wide field fundus imaging were performed on the 16 parents and 3 siblings of the 8 patients. Systemic intravenous chemotherapy was performed using the Carboplatin, Vincristine, Etoposide protocol, intra-arterial chemotherapy using Carboplatin and Melphalan, and local treatment involved cryotherapy and transpupillary thermotherapy. The mean follow-up time is 47.25 months.ResultsNone of the 8 children had any ocular symptoms. Six patients received intravenous chemotherapy (5-6 times), 1 patient received intra-arterial chemotherapy (3 times), and 1 patient just received local treatment. Among the 11 eyes, 9 eyes were treated with local cryotherapy and 8 eyes were treated with transpupillary thermotherapy. During the follow-up period, 2 patients had new tumor, and the average time was 6.3 months after the last chemotherapy. At the last follow-up, the tumor disappeared in 11 eyes, remained stable in 11 eyes. The eye protection rate was 100% (8/8) for patients without eyeball excision. The best corrected visual acuity was 0.1 for 3 eyes and 1.0 for 5 eyes. Three eyes were not found. One heterozygous mutation of Rb1 gene [1c.35_69del (p.T12fs)] was identified in 1 patient, and the other 3 patients were not detected. One had bilateral bulbar tuberculosis of the 16 parents, 1 had bilateral RB of the 3 siblings. They were the mother and brother of a child with bilateral RB.ConclusionsFundus screening is helpful for the detection of early RB. The eye protection rate is high and the long-term vision prognosis is good after systemic or topical chemical drugs (IVC, IAC) and ocular topical treatment (cryopreservation and transpupillary thermotherapy).
Objective To developapatient-reported outcomes scale of chronic obstructive pulmonary disease used for Chinese, thus offering tools for clinical efficacy assessment. Methods According to the development standard of International Patient-Reported Outcomes, the item pool was established and the preliminary scale was prepared. Then, 100 patients with chronic obstructive pulmonary disease and 50 healthy subjects were face-to-face interviewed with preliminary scale by well-trained investigators.Those copies were collected, surveys were analyzed and items were selected with 5 methods including measure of discrete tendency method, factor analysis, correlation coefficient method, Cronbach’s alpha coefficient method and item response Theory. Finally, the final scale was gained. Results The eventual scale contains 4 areas(physiological dimain, psychological dimension, social dimension, treatment), 11 dimensions(specific symptoms, general symptoms, individual, anxiety, depression, disease cognization, disease influence on social pctivity, social support, compliance, drug adverse reaction, satisfactory), and 52 items. Conclusion The ultimate scale coincides with the theoretical framework and reflects the connotation of the quality of life of patients with chronic obstructive pulmonary disease.
Diabetic retinopathy (DR) is the leading cause of blindness among the working-age population, affecting approximately one-third of diabetes patients globally. As the country with the world's largest diabetic population, China faces a severe situation in DR prevention and control due to the vast number of people affected. Early screening and timely intervention have been proven effective in slowing disease progression and significantly reducing the risk of vision loss. However, constrained by multiple barriers such as uneven distribution of medical resources, insufficient primary-level screening capacity, low patient awareness, and inadequate health insurance coverage, China's current DR screening rate remains below 10%, significantly lower than that of developed countries. To address these challenges, various regions in China are actively exploring artificial intelligence technology and innovative screening models, with some preliminary successes in practice. Concurrently, the "14th Five-Year Plan" for National Eye Health explicitly calls for enhancing primary care screening capabilities and implementing a tiered diagnosis and treatment system, providing policy support for DR screening efforts. Nevertheless, issues such as the limited coverage of primary-level screening and insufficient standardization in technology application remain prominent. Future efforts should further strengthen primary-level capacity building, promote multidisciplinary collaboration, standardize technical procedures, and improve policy support. This comprehensive approach aims to achieve broad coverage of DR prevention and treatment, effectively reduce blindness rates, and ultimately enhance the overall level of national eye health.
ObjectiveTo summarize the clinical application and future application prospects of organoid model in pancreatic cancer. MethodThe domestic and foreign literature related on the application of organoid model in pancreatic cancer was reviewed. ResultsIn recent years, the organoid model of pancreatic cancer was constructed mainly using patient-derived tissues, fine-needle aspiration samples, and human pluripotent stem cells. The biomarkers of pancreatic cancer were screened according to the histological and structural heterogeneities of the primary tumor retained in organoid model, such as microRNA, glypican-1, annexin A6 and protein biomarkers cytokeratin 7 and 20, cell tumor antigen p53, Claudin-4, carbohydrate antigen 19-9, etc.in the extracellular vesicles. The results of organoid model could maintain the original tumor characteristics and the higher correlation between the organoid model drug sensitivity data and the clinical results of pancreatic cancer patients suggested that, the drug sensitivity data of organoid model could be used to avoid ineffective chemotherapy, so as to improve the treatment response rate and reduce the toxicity of chemical drug treatment, and reasonably select individualized treatment plans for pancreatic cancer patients in future. ConclusionsOrganoid model has many research in screening biomarkers of pancreatic cancer, individualized drug screening, and drug sensitivity test. It can simulate the complex pathophysiological characteristics of pancreatic cancer in vitro, and retain the physiological characteristics and gene phenotype of original tumor cells. It is expected to become a new platform for selecting biomarkers of pancreatic cancer, testing drug sensitivity, and formulating individualized treatment methods for pancreatic cancer, which might further accelerate the research progress of pancreatic cancer.
The National Comprehensive Cancer Network (NCCN) updates the "NCCN clinical practice guidelines in oncology: Lung cancer screening" annually, and the second edition of 2024 was released in October 2023. The 2024 edition of the guidelines builds on the 2023 edition with some updates on description and assessment of risk factors for lung cancer, evaluation and follow-up of lung nodules found during initial and subsequent screening, and low-dose CT screening protocols and imaging modalities. In this article, we will introduce the above updates and provide reference for lung cancer screening in China by combining the relevant guidelines and consensus in China.
ObjectiveTo explore the diagnostic efficacy of Geriatric Nutritional Risk Index (GNRI) in malnutrition of elderly patients with chronic obstructive pulmonary disease (COPD) in outpatient department. MethodsOne hundred and five elderly outpatients with COPD were enrolled in the study, and their nutritional screening was carried out. The clinical and laboratory parameters of patients in the normal nutrition group (high GNRI group) and malnutrition group (low GNRI group) were compared, and the correlation analysis was conducted. The diagnostic efficacy of GNRI was evaluated based on the malnutrition universal screening tool (MUST). ResultsThe prevalence of malnutrition was high in COPD elderly outpatients. The prevalence of malnutrition in group D was 61.8%. There were significant differences between the two groups in body mass index, serum albumin, FEV1 percentage in the predicted value, 6-minute walk distance, and the number of acute exacerbations in the past year. GNRI was significantly related to the above parameters. The sensitivity, specificity and accuracy of GNRI were 81.8%, 83.6% and 82.9%, using MUST as the standard. ConclusionGNRI can be used for nutritional screening of COPD patients in elderly outpatients, which is simple, convenient and relatively accurate, and can be popularized in other medical institutions.
ObjectiveTo investigate the association between the preoperative nutritional risk and anastomotic leakage following anterior resection for the rectal cancer. MethodsA total of 321 patients with rectal cancer underwent anterior resection in our hospital between January 2008 and December 2013 were retrospectively analyzed. Preoperative nutritional status was evaluated using NRS 2002. Correlation of clinicopathologic characteristics with postoperative anastomotic leakage was evaluated using single factor analysis and Logistic regression model. ResultsAmong the 321 patients, the incidence of postoperative anastomotic leakage was 5.6% (18/321). Single factor analysis showed that the NRS2002 score≥3, clinicalpathologic stage (Ⅲ-Ⅳstage) and distance of tumor from the anal verge were the risk factors of anastomotic leakage after anterior leakage following anterior resection for rectal cancer. Logistic regression analysis revealed that the NRS2002 score (OR=4.125, 95% CI=2.062-7.004), clinicalpathologic stage (OR=3.334, 95% CI=2.062-7.004) and the distance of tumor from the anal verge (OR=2.341, 95% CI=2.559-15.838) were the independent risk factors for anastomotic leakage after anterior leakage following anterior resection for rectal cancer. Conciusions Preoperative NRS2002 score is helpful to predict the risk of anastomotic leakage after anterior resection of rectal cancer. Nutrition education should be strengthened to decrease the morbidity of the anastomotic leakage following anterior resection for the patients who's NRS2002 score≥3.
ObjectivesTo systematically review the methodological and reporting quality of the current global breast cancer screening guidelines so as to provide useful information for domestic study in the future.MethodsWe searched databases including PubMed, The Cochrane Library, Web of Science, EMbase, CNKI, CBM, WanFang Data and some cancer official websites to collect breast cancer screening guidelines from inception to February, 2018. Two reviewers independently screened literature, extracted data and assessed the quality of the guidelines by using AGREE II tool and RIGHT statement.ResultsA total of 11 guidelines were included, in which 5 guidelines (45%) were issued by the USA. The results of the quality assessment showed that: the average scores in the " scale and objective”, " participants”, " rigorism”, " clarity”, " application”, and " independence” of all guidelines were 83, 48, 60, 77, 53 and 79, respectively. 6 guidelines were evaluated as level A and 5 as level B. For the reporting quality, 3 guidelines were of high quality, including 2 in the USA and 1 in Canada.ConclusionsThe methodological and reporting quality of breast cancer screening guidelines are at present very satisfactory. The quantity of clinical guidelines shows an increasing trend. Multi-country contribution to one guideline is another trend. The evidence-based methodology has been accepted globally in the guideline development.