Objective:To explore the combination of high risk screening and family screening for potential patients with Fabry disease in adult hemodialysis population, and to improve the diagnostic efficiency of the disease.Methods:It was a cross-sectional investigation study. High-risk screening for Fabry disease was performed on adult hemodialysis patients with end-stage kidney disease who were admitted to Yongkang First People's Hospital of Zhejiang Province between November 2022 and February 2023. Dry blood paper α-galactosidase A (α-Gal A) detection assay was performed in males, or glycosphingolipids (Lyso-GL-3) detection assay was performed in females. GLA genetic assay was performed for further diagnosis after abnormal screening results. Family screening was carried out on the family members of the confirmed Fabry disease patients, and α-Gal A activity and Lyso-GL-3 of peripheral blood were measured. Additionally, urine routine, blood biochemistry, eye examination, hearing test, cranial magnetic resonance imaging, and electrocardiogram were performed to assess organ damage. Results:Among 244 hemodialysis patients, 139 (56.97%) were males and 105 (43.03%) were females. The age ranged from 25 to 81 years (with median age of 61 years). One female patient with Fabry disease was identified GLA IVS4+919G>A mutation, resulting in a total prevalence of 0.41%. Pedigree screening was conducted on 41 family members of the patient, leading to the confirmation of 12 patients (including the proband), including 3 males and 9 females. Among them, 9 patients were abnormal in enzyme examination, 10 patients were abnormal in substrate, and 11 patients were abnormal in gene sequencing. None of the 12 patients exhibited limb pain, hypohidrosis, angiokeratoma, corneal opacity, and hearing impairment. Eight patients had heart abnormalities. Nine patients had abnormal urine routine (albuminuria or hematuria) and one patient had abnormal renal function. Four patients had abnormal cranial magnetic resonance imaging findings. Conclusions:One GLA IVS4+919G>A mutation family is successfully identified through the combination of high-risk screening and family screening in adult hemodialysis patients, with a total of 12 cases of Fabry disease. The combination of high-risk screening and family screening proves to be effective in detecting potential patients with Fabry disease, and improve the screening efficiency of Fabry disease.

Objective:To develop a robotic digestive endoscope system (RDES) and to evaluate its feasibility, safety and control performance by experiments.Methods:The RDES was designed based on the master-slave control system, which consisted of 3 parts: the integrated endoscope, including a knob and button robotic control system integrated with a gastroscope; the robotic mechanical arm system, including the base and arm, as well as the endoscopic advance-retreat control device (force-feedback function was designed) and the endoscopic axial rotation control device; the control console, including a master manipulator and an image monitor. The operator sit far away from the endoscope and controlled the master manipulator to bend the end of the endoscope and to control advance, retract and rotation of the endoscope. The air supply, water supply, suction, figure fixing and motion scaling switching was realized by pressing buttons on the master manipulator. In the endoscopy experiments performed on live pigs, 5 physicians each were in the beginner and advanced groups. Each operator operated RDES and traditional endoscope (2 weeks interval) to perform porcine gastroscopy 6 times, comparing the examination time. In the experiment of endoscopic circle drawing on the inner wall of the simulated stomach model, each operator in the two groups operated RDES 1∶1 motion scaling, 5∶1 motion scaling and ordinary endoscope to complete endoscopic circle drawing 6 times, comparing the completion time, accuracy (i.e. trajectory deviation) and workload.Results:RDES was operated normally with good force feedback function. All porcine in vivo gastroscopies were successful, without mucosal injury, bleeding or perforation. In beginner and advanced groups, the examination time of both RDES and ordinary endoscopy tended to decrease as the number of operations increased, but the decrease in time was greater for operating RDES than for operating ordinary endoscope (beginner group P=0.033; advanced group P=0.023). In the beginner group, the operators operating RDES with 1∶1 motion scaling or 5∶1 motion scaling to complete endoscopic circle drawing had shorter completion time [1.68 (1.40, 2.17) min, 1.73 (1.47, 2.37) min VS 4.13 (2.27, 5.16) min, H=32.506, P<0.001], better trajectory deviation (0.50±0.11 mm, 0.46±0.11 mm VS 0.82±0.26 mm, F=38.999, P<0.001], and less workload [42.00 (30.00, 50.33) points, 43.33 (35.33, 54.00) points VS 52.67 (48.67, 63.33) points, H=20.056, P<0.001] than operating ordinary endoscope. In the advanced group, the operators operating RDES with 1∶1 or 5∶1 motion scaling to complete endoscopic circle drawing had longer completion time than operating ordinary endoscope [1.72 (1.37, 2.53) min, 1.57 (1.25, 2.58) min VS 1.15 (0.86, 1.58) min, H=13.233, P=0.001], but trajectory deviation [0.47 (0.13, 0.57) mm, 0.44 (0.39, 0.58) mm VS 0.52 (0.42, 0.59) mm, H=3.202, P=0.202] and workload (44.62±21.77 points, 41.24±12.57 points VS 44.71±17.92 points, F=0.369, P=0.693) were not different from those of the ordinary endoscope. Conclusion:The RDES enables remote control, greatly reducing the endoscopists' workload. Additionally, it gives full play to the cooperative motion function of the large and small endoscopic knobs, making the control more flexible. Finally, it increases motion scaling switching function to make the control of endoscope more flexible and more accurate. It is also easy for beginners to learn and master, and can shorten the training period. So it can provide the possibility of remote endoscopic control and fully automated robotic endoscope.

Objective:To investigate the current status of endoscopic treatment for gastroesophageal varices in portal hypertension in China, and to provide supporting data and reference for the development of endoscopic treatment.Methods:In this study, initiated by the Liver Health Consortium in China (CHESS), a questionnaire was designed and distributed online to investigate the basic condition of endoscopic treatment for gastroesophageal varices in portal hypertension in 2022 in China. Questions included annual number and indication of endoscopic procedures, adherence to guideline for preventing esophagogastric variceal bleeding (EGVB), management and timing of emergent EGVB, management of gastric and isolated varices, and improvement of endoscopic treatment. Proportions of hospitals concerning therapeutic choices to all participant hospitals were calculated. Guideline adherence between secondary and tertiary hospitals were compared by using Chi-square test.Results:A total of 836 hospitals from 31 provinces (anotomous regions and municipalities) participated in the survey. According to the survey, the control of acute EGVB (49.3%, 412/836) and the prevention of recurrent bleeding (38.3%, 320/836) were major indications of endoscopic treatment. For primary [non-selective β-blocker (NSBB) or endoscopic therapies] and secondary prophylaxis (NSBB and endoscopic therapies) of EGVB, adherence to domestic guideline was 72.5% (606/836) and 39.2% (328/836), respectively. There were significant differences in the adherence between secondary and tertiary hospitals in primary prophylaxis of EGVB [71.0% (495/697) VS 79.9% (111/139), χ2=4.11, P=0.033] and secondary prophylaxis of EGVB [41.6% (290/697) VS 27.3% (38/139), χ2=9.31, P=0.002]. A total of 78.2% (654/836) hospitals preferred endoscopic therapies treating acute EGVB, and endoscopic therapy was more likely to be the first choice for treating acute EGVB in tertiary hospitals (82.6%, 576/697) than secondary hospitals [56.1% (78/139), χ2=46.33, P<0.001]. The optimal timing was usually within 12 hours (48.5%, 317/654) and 12-24 hours (36.9%, 241/654) after the bleeding. Regarding the management of gastroesophageal varices type 2 and isolated gastric varices type 1, most hospitals used cyanoacrylate injection in combination with sclerotherapy [48.2% (403/836) and 29.9% (250/836), respectively], but substantial proportions of hospitals preferred clip-assisted therapies [12.4% (104/836) and 26.4% (221/836), respectively]. Improving the skills of endoscopic doctors (84.2%, 704/836), and enhancing the precision of pre-procedure evaluation and quality of multidisciplinary team (78.9%, 660/836) were considered urgent needs in the development of endoscopic treatment. Conclusion:A variety of endoscopic treatments for gastroesophageal varices in portal hypertension are implemented nationwide. Participant hospitals are active to perform emergent endoscopy for acute EGVB, but are inadequate in following recommendations regarding primary and secondary prophylaxis of EGVB. Moreover, the selection of endoscopic procedures for gastric varices differs greatly among hospitals.

Systemic lupus erythematosus (SLE) is a serious autoimmune disease that affects multiple systems and organs throughout the body. Thrombotic microangiopathy (TMA) is a rare clinical syndrome that can lead to multiple organ dysfunction and even threaten life. Clinically, SLE patients with TMA are relatively rare, especially in children, but the mortality of SLE patients with TMA is significantly increased. The article reports 2 cases of successful remission of SLE complicated with TMA after treatment with eculizumab, and discusses the diagnosis, clinical manifestations and treatment of SLE complicated with TMA in children, so as to provide clinical basis for the diagnosis and treatment of SLE complicated with TMA in children.

Objective:To investigate the diagnostic performance of MRI Liver Imaging Reporting and Data System version 2018 in high-risk hepatocellular carcinoma (HCC) patients with intrahepatic parenchymal substantial lesions ≤3.0 cm.Methods:A retrospective analysis was conducted in hospitals between September 2014 to April 2020. 131 pathologically confirmed non-HCC cases with lesions ≤3.0 cm in diameter were randomly matched with 131 cases with lesions ≤3.0 cm in diameter and divided into benign (56 cases), other hepatic malignant tumor (OM, 75 cases), and HCC group (131 cases) in a 1:1 ratio. MRI features of the lesions were analyzed and classified according to LI-RADS v2018 criteria (tie-break rule was applied to lesions with both HCC and LR-M features). Taking the pathological results as the gold standard, the sensitivity and specificity of the LI-RADS v2018 classification criteria and the more stringent LR-5 criteria (with three main signs of HCC at the same time) were calculated for HCC, OM or benign lesions diagnosis. Mann -Whitney U test was used to compare the classification results. Results:The number of cases classified as LR-M, LR-1, LR-2, LR-3, LR-4, and LR-5 in HCC group after applying the tie-break rule were 14, 0, 0, 12, 28, and 77, respectively. There were 40, 0, 0, 4, 17, 14 and 8, 5, 1, 26, 13, 3 cases in benign and OM group, respectively. There were 41 (41/77), 4 (4/14) and 1 (1/3) lesion case in the HCC, OM and benign group, respectively, that met the more stringent LR-5 criteria. The sensitivity of LR-4 combined with LR-5 (LR-4/5) criteria, LR-5 criteria and more stringent LR-5 criteria for HCC diagnosis were 80.2% (105/131), 58.8% (77/131) and 31.3% (41/131), respectively, and the specificity were 64.1% (84/131), 87.0% (114/131) and 96.2% (126/131), respectively. The sensitivity and specificity of LR-M were 53.3% (40/75) and 88.2% (165/187), respectively. The sensitivity and specificity using LR-1 combined with LR-2 (LR-1/2) criteria for the diagnosis of benign liver lesions were 10.7% (6/56) and 100% (206/206), respectively.Conclusions:LR-1/2, LR-5, and LR-M criteria have high diagnostic specificity for intrahepatic lesions with a diameter of ≤3.0 cm. Lesions classified as LR-3 are more likely to be benign. The specificity of LR-4/5 criteria is low, while the more stringent LR-5 criteria has a high specificity for HCC diagnosis.

Objective:To study the correlation between liver imaging reporting and data system (LI-RADS) category with tumor differentiation, Ki67 index, microvascular infiltration, and predictive prognosis in hepatocellular carcinoma (HCC).Methods:We retrospectively analyzed the clinical and radiological data of 178 patients with HCC who were confirmed by histopathological studies after liver resection between January 2015 and September 2020 at Lishui Central Hospital and Lishui People’s Hospital. There were 156 males and 22 females, with age of (57±10) years old. These patients were assessed for LI-RADS categories according to the 2018 version of LI-RADS, and they were divided into 4 groups according to the assessment results: 12 patients with LI-RADS-3 (the LI-RADS-3 group); 26 patients with LI-RADS-4 (the LI-RADS-4 group); 102 patients with LI-RADS-5 (the LI-RADS-5 group); and 38 patients with LI-RADS-M (the LI-RADS-M group). The patients' general information, tumor markers, pathology and other clinical data were recorded. Correlation analysis between the LI-RADS category with pathology was performed by the Kendall's tau-b test. Survival analysis between groups was performed by the Kaplan-Meier analysis. The Cox regression risk model was used to analyze the relationship between these variables with the risk of death.Results:The Kendall's tau-b test showed that LI-RADS category was positively correlated with the degree of tumor differentiation ( t=0.204, P=0.002), but not with microvascular infiltration and Ki 67 index ( P>0.05). All patients were followed up for 4.2 to 84.2 months (median follow-up 36.3 months). By the end of follow-up, 31 patients had died and 147 patients were alive. The cumulative 1-year and 3-year survival rates of the LI-RADS-5 group were 97% and 90% respectively, which were significantly higher than those in the LI-RADS-M group (81% and 63%), and the LI-RADS-4 group (96% and 81%), ( P<0.05). The cumulative 1-year and 3-year survival rates of patients in the LI-RADS-3 group were 100% and 67% respectively, and there was no statistically significant difference with the LI-RADS-5 group ( P>0.05). The Cox multivariate regression analysis showed that tumor glycoantigen 199 (>50 μl/ml) to be an independent influencing factor in survival of HCC patients ( HR=0.43, 95% CI: 0.24-0.76, P=0.004). Conclusion:The LI-RADS category of HCC was positively correlated with the degree of tumor differentiation, and patients with HCC meeting the LI-RADS-5 criteria had relatively better prognosis.

Objective:To investigate clinical efficacy of narrow-band ultraviolet B (NB-UVB) irradiation around vitiliginous lesions in the treatment of refractory vitiligo.Methods:A total of 126 patients with refractory vitiligo were retrospectively collected from Department of Dermatology, the First Affiliated Hospital of Nanjing Medical University from June 2019 to November 2020. The patients were treated with NB-UVB irradiation around vitiliginous lesions after partial covering (perilesional irradiation group) , or conventional NB-UVB irradiation (conventional irradiation group) , twice a week for 3 consecutive months. After the treatment, the efficacy was evaluated. By using the propensity score method, the lesions in the 2 groups were matched at a ratio of 1∶1. Univariate and multivariate logistic regression analyses and stratified analysis were used to analyze the clinical efficacy of NB-UVB irradiation around vitiliginous lesions in the treatment of refractory vitiligo.Results:Totally, there were 420 skin lesions in the perilesional irradiation group and 257 in the conventional irradiation group, and 190 lesions were enrolled into each group by propensity-score matching. Before and after the matching, the response rates were both significantly higher in the perilesional irradiation group (71.9%, 67.9%, respectively) than in the conventional irradiation group (31.9%, 30.0%, respectively, both P < 0.05) . After the propensity-score matching, both univariate and multivariate logistic regression analyses showed significant differences in the efficacy between the perilesional irradiation group and conventional irradiation group ( OR = 4.9, 95% CI: 3.2, 7.6, P < 0.001; OR = 12.0, 95% CI: 6.5, 22.3, P < 0.001, respectively) . Vitiliginous lesions were classified according to hair types and irradiation methods: before the matching, there were 187 vitiliginous lesions with white hairs treated with the conventional irradiation and 246 treated with the perilesional irradiation, and there were 70 vitiliginous lesions with black hairs treated with the conventional irradiation and 174 treated with the perilesional irradiation; after the matching, 140 vitiliginous lesions with white hairs and 50 with black hairs were enrolled into each radiation group. Stratified analysis showed that the response rates of vitiliginous lesions with white hairs were significantly higher in the perilesional irradiation group (77.6%, 72.8%, respectively) than in the conventional irradiation group before and after the matching (19.3%, 20.7%, respectively, both P < 0.01) ; for the vitiliginous lesions with black hairs, there was no significant difference in the response rate between the 2 groups ( P = 0.908) . Conclusion:The efficacy of NB-UVB irradiation around vitiliginous lesions is superior to the conventional irradiation in the treatment of refractory vitiligo, especially vitiliginous lesions with white hairs.

Objective:Standardized sample resources and high-quality clinical big data are important resources for medical research, only through resource sharing can maximize its utilization.Which can be utilized to the max only through resource sharing.Methods:This paper attempts to explore the sharing mechanism of the resource sharing platform and proposes some aspects such as the platform construction background, management regulations, legal ethical system, data sharing principles, benefit distribution, etc.This article attempts to explore the sharing mechanism based on the resource sharing platform of the respiratory disease biobank, proposes the contents that should be included in the sharing mode.Detailed information including the platform construction background, management procedures, legal and ethical system, data sharing principles and benefit distribution should take into consideration in the operating mechanism of the platform.Results:Establishing a resource sharing platform matches the development of clinical research in China.The tailored sharing model which is suitable for the field of respiratory diseases will also guide the rapid development of clinical research.Conclusions:The construction of a respiratory disease biobank sharing platform is conducive to promoting the opening and sharing of biological samples and information resources in the context of big data.

Objective:To investigate the correlation between the enhancement characteristics in arterial phase and the prognosis of patients with massive intrahepatic cholangiocarcinoma (IMCC).Methods:The imaging and clinical data of 92 patients with IMCC who were pathologically confirmed and underwent enhanced MRI or CT in Central Hospital of Lishui from June 2004 to February 2019 were retrospectively analyzed. According to the enhancement pattern of the primary lesion in the arterial phase, patients were divided into rich arterial blood supply group （17 cases） and deficient arterial blood supply group （75 cases）. The clinical data and imaging features of these patients were studied. Differences between measurement data and count data between the two groups were compared using t test and Fisher test. Kaplan-Meier analysis and log-rank test were used to analyze overall survival. The Cox regression multivariate analysis was used to study the relationship between the variables and the risk of death. Result:The enlargement of lymph nodes, long diameter of the primary lesion, CA19-9, treatment and HPD around the primary lesion in arterial phase were statistically different in the two groups ( P<0.05), others were no statistical difference. CA19-9>200 U/ml, lymph node enlargement, HPD around the primary lesion in arterial phase and deficient arterial blood supply were independent factors for the prediction of prognosis in IMCC patients with surgery ( P values were 0.008, 0.002, 0.049 and 0.005, respectively). Lymph node enlargement and deficient arterial blood supply were independent risk factors for the prediction of prognosis in IMCC patients with surgery ( P values are 0.049 and 0.045, respectively). Conclusion:The blood supply characteristics of arterial phase are independent factors for the prognosis of patients with IMCC.

Objective:To compare the clinical efficacy of anti-reflux mucosectomy (ARMS) and endoscopic cardial constriction ligation (ECCL) on treatment of gastroesophageal reflux disease.Methods:A retrospective study was conducted on the data of 48 consecutive patients with gastroesophageal reflux disease, who underwent ARMS or ECCL at the First Affiliated Hospital of Zhengzhou University from December 2015 to August 2018. Twenty cases were in the ARMS group and 28 cases in the ECCL group. The short-term and long-term efficacies were compared between the two groups.Results:The success rate of operation was 100.0% in the both groups. The operation time of the ECCL group was significantly shorter than that of the ARMS group (8.43±1.59 min VS 34.05±12.35 min, t=-9.227, P<0.001). After 2 months follow-up, the symptom improvement rate of the ECCL group and the ARMS group was 89.3% (25/28) and 60.0% (12/20), respectively ( χ2=4.128, P=0.042). The GERD Q score of the ECCL group was significantly lower than that of the ARMS group (6.24 ±1.22 VS 7.35±1.79, t=-2.400, P=0.023). One year after operation, there were no significant differences in the symptom improvement rate, GERD Q score, DeMeester score and the time percentage of pH<4 between the two groups ( P>0.05). Conclusion:The long-term clinical effect of ARMS and ECCL is similar, but the short-term clinical effect of ECCL is superior to ARMS.