ObjectiveTo explore the necessity, construction plans, and implementation methods for the establishment of a fundus disease-specific biobank are discussed. MethodsAn evidence-based medicine study. “Biobank”, “Disease-specific biobank”, “Eye diseases”, “Fundus disease” were hereby used as search terms. Literatures were retrieved related to biobank construction from PubMed, Embase, China National Knowledge Infrastructure, and Wanfang databases since their establishment until October 2023. Two researchers independently selected and analyzed literature, extracting data for further analysis. ResultsAfter screening, 23 articles were included, comprising 11 articles in Chinese and 12 articles in English, involving 23 institutions. The disease-specific biobank has been built earlier abroad than domestically. Both domestic and foreign biobank have a scale of less than 1, 1 to 10, and more than 10 thousand samples, with the eye disease-specific biobank having less than 10 thousand samples. The majority of these disease-specific biobank focued on tumor-related diseases and consist of both physical and information components. Ethical committees were required to declare and record the construction of biobank, and dedicated personnel and information management systems are established. Quality control systems have been developed with standard operating procedures from sample collection to storage. These disease-specific biobank effectively supported research projects, but there was a lack of resource sharing domestically compared to abroad. Based on practical experience, the construction of fundus disease-specific biobank at West China Hospital of Sichuan University has been improved. Separate sample collection processes have been formulated for outpatient clinics and operating rooms. Standard operating procedures have been established for unique eye samples, including vitreous fluid, proliferative membranes of the retina, aqueous humor, tears, etc., to ensure sample quality. ConclusionEstablishing a fundus disease-specific biobank can promote basic and clinical research, advance the development of translational medicine, achieve resource sharing, and foster discipline development.
Objective To systematically review the clinical presentations and gene types of oculo-facio-cardio-dental (OFCD) syndrome and to provide a theoretical basis for future diagnosis, prevention, and treatment of the disease. Methods The PubMed, EMbase, The Cochrane Library, Web of Science, CBM, WanFang Data, and CNKI databases were electronically searched to collect studies on OFCD syndrome published from inception to March 1st, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies. A systematic review was then performed. Results A total of 19 studies involving 83 patients with OFCD syndrome were included. The patients had an average age of 15.95±16.03 years, including 5 males and 78 females. The clinical presentations mainly included ocular disorders, facial abnormalities, cardiac disorders, dental abnormalities, physical anomalies, and dysfunctions of other body systems. BCOR gene mutations were detected in 71 patients with OFCD syndrome (overall detection rate: 86%, 95%CI 78% to 93%), of whom five were males (detection rate: 6%, 95%CI 1% to 11%) and 66 were females (detection rate: 80%, 95%CI 71% to 88%). Patients were mostly treated using multidisciplinary symptomatic treatment approaches based on clinical presentations and imaging findings. Conclusion In addition to the typical clinical presentations, BCOR gene testing results should also be taken into consideration for the differential diagnosis of OFCD syndrome. Although symptomatic therapies in clinical practice are relatively mature, they do not address the underlying cause of the disease, i.e., BCOR gene mutations. In future research, greater attention should be diverted to gene therapy.
ObjectiveTo conduct a systematic review of clinical manifestations, treatment, and associated genotyping of Sorsby fundus dystrophy (SFD). MethodsAn evidence-based medicine study. Sorsby fundus dystrophy, anti-vascular endothelial growth factor therapy, choroidal neovascularization, macular neovascularization, and TIMP3 gene were hereby used as search terms. Relevant literature was searched in CNKI, Wanfang, PubMed of the National Library of Medicine, and Embase of the Netherlands. The time span for literature searching ranged from the establishment of the database to April 2022, and two reviewers independently screened the literature and extracted relevant data, with duplicates, incomplete or irrelevant articles, and review articles excluded. SPSS26.0 software was used for analysis. The 95% confidence interval (CI) was used as an estimate of the effect size. The clinical manifestations, treatment and related pathogenic genes of SFD were counted and recorded. ResultsAccording to the search strategy, 157 pieces of literature were initially retrieved, and 49 eyes of 35 patients from 16 articles were finally included for analysis, among which, 17 patients were male, 13 patients were female, and 5 patients were unknown gender; 16 involved left eyes, 19 involved right eyes, and 14 involved unidentified eyes. The age of the disease onset was 42.33±2.19 years (28-59) years old. There were 19 cases with a positive family history, and the total positive rate was 54.3% (19/35, 95%CI 36%-72%). There were 31 cases of gene mutation, all of which were TIMP3. In the included literature, there were 2 and 2 cases with no mutation and unreported loci, respectively, with a total positive rate of 93.9% (31/33, 95%CI 85%-100%). Among the 31 cases with gene mutation, 22, 4, 1, and 4 cases were in the UK, Germany, Switzerland, and Chinese, respectively, and the detection rates were all 100% (22/22, 4/4, 1/1, 4/4). The clinical manifestations of SFD were mainly yellow-white deposits in the fundus and choroidal neovascularization (CNV) in the macula, thereby leading to a decrease in central vision, followed by the expansion of the deposits to the periphery, the further development of CNV, and a severe decline in vision caused by peripheral retinal and choroidal atrophy. The treatment methods for SFD include photodymatic therapy, anti-VEGF drugs, glucocorticoids, vitamin A, etc., among which, anti-VEGF drugs were considered the first-line treatment, and the combined treatment was provided with a better prognosis than a single treatment. ConclusionsVariations in the TIMP3 gene cause SFD, the fundus characteristic manifestations of which, are yellowish-white deposits and CNV, which develop from the center to the periphery, thus resulting in progressive decline of visual acuity. Current studies have shown that combined therapy presents a better prognosis than monotherapy.
Smart wearable devices play an increasingly important role in physiological monitoring and disease prevention because they are portable, real-time, dynamic and continuous.The popularization of smart wearable devices among people under high-altitude environment would be beneficial for the prevention for heart and brain diseases related to high altitude. The current review comprehensively elucidates the effects of high-altitude environment on the heart and brain of different population and experimental subjects, the characteristics and applications of different types of wearable devices, and the limitations and challenges for their application. By emphasizing their application values, this review provides practical reference information for the prevention of high-altitude disease and the protection of life and health.
Objective To summarize the genotypes associated with Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) induced by methazolamide and to provide references for the diagnosis and treatment of SJS and TEN induced by methazolamide. Methods Databases including PubMed, EMbase, CNKI, and WanFang Data were electronically searched from database inception to September 2021. Two reviewers independently screened literature and extracted data, and then a systematic review was performed. Results A total of 18 studies involving 49 patients were included. HLA genetic testing was performed on 37 patients. HLA-B*59:01 was detected in 27 patients, HLA-C*01:02 was detected in 15 patients, and 14 patients carried both genes. Statistical analysis showed that the positive rate of HLA-B*59:01 was 73% (95% CI 0.58 to 0.88) and that of HLA-C*01:02 was 40.5% (95%CI 0.24 to 0.57). The latent time until the symptoms were observed was 14.08 ± 8.77 days, and the mean dosage of methazolamide administered was 88.95±39.45 mg/d. Glucocorticoid and immunoglobulin were the main treatments prescribed. Conclusion Methazolamide can cause SJS and TEN. As the presence of HLA-B*59:01 or HLA-C*01:02 has been reported as a genetic risk factor for these adverse drug reactions, the implementation of genetic screening can effectively reduce their occurrence. Glucocorticoid and immunoglobulin, anti-infectives, should be administered to control the symptoms.
Objective To monitor the importance of establishing lung cancer models for immunological treatment through in vivo imaging system (IVIS). Methods In this study, a new optical bioluminescence IVIS was used to confirm the tumour formation and luminescence in male BALB/c nude mice by injecting A549-luc cells. First, A549-luc cells which expressed luciferase stably were transferred into nude mice by tail vein injection in order to establish a stable and reliable model of lung cancer. Then, D-fluorescein potassium salt was intraperitoneally injected every other week. The tumor formation and growth were dynamically observed on day 7th, 14th and 21st by IVIS Spectrum and pathological exam with hematoxylin-eosin staining. Results Animal model of lung cancer was successfully established, and the development of lung cancer was effectively monitored by IVIS real-time fluorescence value which was consistent with pathological exam, and tumor volume was correlated with fluorescence intensity (r=0.7996, P<0.01). Conclusions IVIS has multiple benefits, including high sensitivity and specificity, simple operation, and no radiation. IVIS Spectrum can measure the fluorescence of tumor formed by injection of A549-luc cells in nude mice metastasis of lung cancer in a non-invasive, real-time and dynamic mode, which is worthy of promotion for using in clinical research.