Objective:To evaluate the efficacy and safety of endoscopic ultrasound-guided selective varices devascularization (EUS-SVD) for the treatment of esophagogastric varices.Methods:A total of 43 cases of liver cirrhosis with esophageal and gastric varices at the First Affiliated Hospital of Anhui Medical University from February to December 2021 were included in a retrospective cohort study. The cases were divided into two treatment groups based on endoscopic treatment: EUS-SVD group ( n=22) and conventional endoscopic sclerosant injection group (conventional gastroscopy group, n=21). The doses of sclerosants and tissue glue, effective rate of esophageal varice treatment within 2 months after surgery, rebleeding rate within 3 months after surgery, and adverse reactions were compared. Results:The differences in terms of mean patient age, gender composition, etiology of liver cirrhosis, Child-Pugh classification of liver function, classification of esophageal varices, composition of endoscopic treatment indications, and mean maximum diameter of gastric varices were not statistically significant between the two groups ( P>0.05), indicating the comparability of baseline data. Perforating veins outside the gastric wall of gastric varices could be detected during the procedure in the EUS-SVD group, and disappearance of gastric varices after injection treatment could be determined, while these two indicators could not be detected in the conventional gastroscopy group. The amounts of sclerosing agents and tissue adhesives used in the EUS-SVD group were 7.54±3.10 mL and 1.30±0.57 mL, respectively, while the corresponding amounts in the conventional gastroscopy group were 7.57±3.50 mL ( t=0.026, P=0.980) and 1.38±0.67 mL ( t=-0.452, P=0.654), respectively. The effective treatment rate for esophageal varice within 2 months after surgery was 63.6% (14/22) in the EUS-SVD group and 52.4% (11/21) in the conventional gastroscopy group, but the difference was not statistically significant ( χ2=0.559, P=0.455). The rebleeding rate within 3 months after surgery was 4.5% (1/22) in the EUS-SVD group, significantly lower than the rate of 33.3% (7/21) in the conventional gastroscopy group ( P=0.021). Neither group experienced events of ectopic embolism or death. There was no statistically significant difference between the two groups in terms of postoperative pain, fever, nausea and vomiting, or rebleeding rate within 72 hours after surgery ( P>0.05). The incidence of gastric fundus ulcers was 9.1% (2/22) in the EUS-SVD group, significantly lower than the rate of 42.9% (9/21) in the conventional gastroscopy group ( χ2=6.435, P=0.011). Conclusion:EUS-SVD treatment for esophagogastric varices is safe and effective. It can clearly display the deep-seated intramural vessels of the gastric wall, measure the diameter of the blood vessels, accurately inject tissue glue, occlude the varicose veins and perforating vessels, and reduce the occurrence of postoperative ulcers and rebleeding.

Objective:To compare the accuracy of endoscopy and endoscopic ultrasonography (EUS) combined with Indian ink marking in locating injection sites for gastric varices, and to explore the influence of the features of gastric varices under endoscopy on the injection sites.Methods:Consecutive patients with gastric varices scheduled for EUS-guided glue injection therapy at the First Affiliated Hospital of Anhui Medical University from August 2021 to October 2022 were perspectively included. Firstly, gastric varices were assessed under endoscopy, where the size of the veins were estimated while the injection site was preliminarily judged during the procedure. Then EUS was used to identify perforating feeding veins and mark injection sites with Indian ink. After tissue adhesive was injected into identified varices, the change of varices after injection was observed and the marking was identified under endoscopy again. The clarity of the markinges was confirmed and the consistency between EUS-guided Indian ink mark and that under endoscopy was compared. Patients were divided into anastomosis group and non-anastomosis group based on marking consistency to investigate the effect of gastric varices features on the location of injection sites under endoscopy. Treatment efficacy and postoperative adverse events were counted.Results:Finally, 34 patients were included and all of them underwent successful marking under EUS guidance without complications. A total of 40 marker sites were clearly visible with Indian ink staining under endoscopy. The difference in distribution between the anastomotic group and non-anastomotic group marker points between EUS and endoscopy was statistically significant ( χ2=9.103, P=0.003). Vascular occlusion rate was 100.00% (40/40). There were 13 adverse events after operation, mainly fever, abdominal pain and nausea, and no serious adverse events such as allergy and ectopic embolization occurred. There was significant difference between the blood vessel diameter of the anastomotic group (10.84±4.02 mm) and that of the non-anastomotic group (8.80±1.61 mm, t=1.870, P=0.031). The percentage of raised vessels in the anastomotic group was 88.00% (22/25), higher than that in the non-anastomotic group [53.33% (8/15)], and the difference was statistically significant ( χ2=6.009, P=0.024). Conclusion:Accuracy in positioning under endoscopy is influenced by variceal diameter and bulge shape, being less precise in varices with smaller diameters and less pronounced bulges.

Objective To explore the important factors influencing organ donation willingness and coordination effect of organ donation coordinators. Methods A questionnaire survey was conducted among 349 national organ donation coordinators by convenience sampling, including 145 males and 204 females, aged 27 (23, 36) years. Multiple linear regression and disordered logistic regression were used to investigate the important factors influencing the willingness to donate organs and coordination effects. Results Among 349 organ donation coordinators, 146 (41.8%) were willing to donate organs, including 101 (28.9%) who had signed the consent card for organ donation. Adequate awareness of organ donation laws, high education level, marital experience, and good self-perceived health status all showed positive effects on organ donation willingness of organ donation coordinators (all P < 0.05). High income, long length of service as organ donation coordinators, full-time mode of employment, high willingness to donate organs, and adequate awareness of donation conditions and donation procedures all showed positive effects on the coordination effect of organ donation coordinators (all P < 0.05). Conclusions The willingness to donate organs is increased as the higher awareness of organ donation laws of organ donation coordinators, while enhancing the willingness to donate organs of organ donation coordinators exerts positive impact upon improving the coordination effect of organ donation coordination. Therefore, an all-round organ donation coordinator training system should be established to improve the success rate of organ donation advocacy and promote the development of organ donation.

Objective: To prove the validity and accuracy of the digitizer instead of the conventional electronics plug-in for radionuclide measurement. Methods:  Based on a large-area flow-gas multi-wire proportional counter for 2πα and 2πβ surface particle emission rate measurement, the DT5730 digital waveform sampler developed by CAEN was used for waveform signal acquisition, amplitude analysis, and data processing of the α-plane source 241Am and the β-plane source nuclides 14C, 36Cl, and 90Sr-90Y of different energies. Results: The deviations between the α and β surface particle emission rate results obtained after dead time and background corrections and the measurements obtained based on the plug-in calibrator were all within 0.6%, within the uncertainty range, under consistent experimental conditions such as electronics threshold and high pressure. Conclusion The digitizer is an effective alternative to conventional electronics plug-ins for α and β signal acquisition and processing and the accurate measurement of α and β emission rates.

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for revealing the genetic etiology of fetuses with isolated ventricular septal defect (VSD). METHODS: From December 2017 to December 2020, 69 fetuses with isolated VSD were identified at the First Affiliated Hospital of Zhengzhou University. Meanwhile, 839 similar prenatal cases were selected from public databases including Wanfang data, Wanfang Medicine, and China National Knowledge Infrastructure (CNKI) by using keywords such as "Ventricular septal defect", "Copy number variation", and "Prenatal". A total of 908 fetuses with isolated VSD were analyzed. CNV-seq was carried out for 69 fetuses. RESULTS: Among the 908 fetuses, 33 (3.63%) were found to harbor pathogenic CNVs, which included 11 chromosomal aneuploidies (1.21%) and 22 pathogenic CNVs (2.42%). The pathogenic CNVs have involved 12 genetic syndromes, with those known to involve the heart development including 5 cases of 22q11.21 deletion syndrome, 2 cases of 4q terminal deletion syndrome, and 1 case of 9q subtelomere deletion syndrome. The outcome of pregnancies for 15 fetuses with pathogenic CNVs was known, of which 12 were terminated, and 3 had spontaneous closure of the ventricular septum after birth, but 1 of them had other abnormalities. CONCLUSION Fetuses with isolated VSD have a relatively high risk for chromosomal abnormalities, for which CNV-seq should be recommended.
Female ; Pregnancy ; Humans ; DNA Copy Number Variations ; Heart Septal Defects, Ventricular/genetics* ; 22q11 Deletion Syndrome ; Fetus

Inflammatory diseases are key contributors to high mortality globally and adversely affect the quality of life. Current treatments include corticosteroids or nonsteroidal anti-inflammatories that may cause systemic toxicity and biologics that may increase the risk of infection. Composite nanoparticles that bear not only the drug payload but also targeting ligands for delivery to inflammation sites at lowered systemic toxicity are established in the nanomedicine field, but their relatively large size often leads to systemic clearance. Metal-based nanoparticles with intrinsic anti-inflammatory properties represent attractive alternatives. They are not only designed to be compact for crossing biological barriers (with the nanoparticle serving as a dual carrier and drug), but also support label-free tracking of their interactions with cells. The review commences with an outline of the common inflammatory diseases, inflammatory pathways involved, and conventional drug-loaded nanoparticles for anti-inflammation. Next, the review features the emerging applications of self-therapeutic metal-based nanoparticles (e.g., gold, coper oxide, platinum, ceria, and zinc oxide) for managing inflammatory diseases in animals over the past three years, focusing on therapeutic outcomes and anti-inflammatory mechanisms. The review concludes with an outlook on the biodistribution, long-term toxicity, and clinical translation of self-therapeutic metal-based nanoparticles.

Objective:To evaluate balloon compression-assisted endoscopic injection sclerotherapy (bc-EIS) for the treatment of esophageal varices.Methods:From June 2019 to November 2020, cirrhotic patients with esophageal varices who received endoscopic injection sclerotherapy (EIS) in the First Affiliated Hospital of Anhui Medical University were enrolled in the study. The patients were randomly divided into the bc-EIS group and the traditional EIS group. The number of treatments to eradicate varicose veins, the dose of sclerosing agent used in the first treatment, the number of injection points in the first treatment, the rebleeding rate within 10 months after the operation and the incidence of complications or adverse reactions were compared between the two groups.Results:Ninety-two cases were initially included in the study, and 7 cases were excluded based on exclusion criteria. Finally, 85 cases were included in the data analysis, 47 in the bc-EIS group and 38 in the traditional EIS group. The first eradication rate, the second cumulative eradication rate and the third cumulative eradication rate were 82.98% (39/47), 91.49% (43/47) and 100.00% (47/47) in the bc-EIS group, and they were 10.53% (4/38) ( χ 2=44.125, P<0.001), 31.58% (12/38) ( χ 2=33.023, P<0.001) and 63.16% (24/38) ( χ 2=20.730, P<0.001), respectively in the traditional EIS group, and the differences were statistically significant. The treatment times of eradicating varicose veins in the bc-EIS group and the traditional EIS group were 1.25±0.60 and 3.21±1.41, respectively, with significant difference. The dosage of sclerosing agent in first treatment in the bc-EIS group and the traditional EIS group was 17.66±7.14 mL and 22.92±6.84 mL, respectively ( t=3.441, P=0.001). The numbers of initial injection points in the bc-EIS group and the traditional EIS group were 2.70±0.86 and 2.78±1.04, respectively and the difference was not statistically significant ( t=1.847, P=0.065). The rebleeding rates of the two groups within 10 months after the operation were 2.13% (1/47) and 18.42% (7/38) respectively ( χ 2=4.771, P=0.029). There were no serious complications in the two groups. The incidences of retrosternal pain, nausea and vomiting, abdominal distension and ulcer were 2.13% (1/47), 2.13% (1/47), 4.26% (2/47) and 0.00% (0/47) in the bc-EIS group, and in the traditional EIS group, they were 5.26% (2/38) ( χ 2=0.035, P=0.851), 5.26% (2/38) ( χ 2=0.035, P=0.851), 7.89% (3/38) ( χ 2=0.060, P=0.806) and 7.89% (3/38) ( χ 2=1.877, P=0.171), respectively, without significant difference. Conclusion:Bc-EIS is more effective than traditional EIS for the treatment of esophageal varices with lower postoperative rebleeding rate, which shows better clinical application value.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Meckel syndrome. METHODS: A pedigree with a history of three consecutive adverse pregnancies which presented at the First Affiliated Hospital of Zhengzhou University on August 31, 2017 was selected as the study subject. Clinical data of the pedigree were collected. High-throughput sequencing was carried out to screen for variants of ciliopathy-related genes in the third fetus following induced abortion, and candidate variant was verified by Sanger sequencing. RESULTS: The first pregnancy of the couple had ended as spontaneous abortion, whilst the fetus of the second pregnancy was suspected for having ciliopathy, though no genetic testing was carried out following elected abortion. The fetus of the third pregnancy was suspected for having ciliopathy, and high-throughput sequencing and Sanger sequencing had shown that the fetus had harbored compound heterozygous variants of the TMEM67 gene, including c.978+1G>A from the father and c.1288G>C (p.D430H) from the mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.978+1G>A was classified as a pathogenic variant (PVS1+PM2_Supporting+PP5), whilst the newly discovered c.1288G>C (p.D430H) was classified as a likely pathogenic variant (PM2_Supporting+PM3+PM5+PP3). CONCLUSION The c.978+1G>A and c.1288G>C (p.D430H) compound heterozygous variants of the TMEM67 gene probably underlay the three consecutive adverse pregnancies suspected for ciliopathy in this pedigree. The discovery of c.1288G>C (p.D430H) has also expanded the mutational spectrum of the TMEM67 gene.
Female ; Pregnancy ; Humans ; Pedigree ; East Asian People ; Ciliary Motility Disorders/genetics* ; Ciliopathies ; Abortion, Spontaneous ; Membrane Proteins/genetics*

ABSTARCT Purpose To investigate the clinicopathologic characteristics and genetic mutations of metastatic follicular thy-roid carcinoma(FTC).Methods A total of 22 cases of meta-static FTC were collected,including previous medical history,imaging,treatments and outcomes,and next-generation sequen-cing study and Sanger sequencing were performed in 12 cases.Results There were 16 women and 6 men.Sixteen cases were older than 50 years.Seven cases presented with metastases as the first symptom.Fourteen cases developed metastases 3 to 12 years after thyroid surgery.Sixteen cases developed bone metas-tasis,10 cases had lung metastasis,and 3 cases had brain me-tastasis.Those patients with multiple bone metastases progressed during the follow-up period.The common gene mutations in me-tastases were NRAS p.Q61R(6 cases),HRAS p.Q61R(2 ca-ses)and KRAS p.Q61R(1 case),followed by TERT promoter mutation(8 cases).Other mutated genes included KEL,BRCA1/2,ALK,ROS1,ErbB4,etc.Conclusion FTC has a high misdiagnosis rate.Those diagnosed with FTC should under-go regular systemic examinations to detect potential metastasis,especially in bone,lung,and brain.Further research on the sig-nificance of NRAS and other molecular indicators in FTC metas-tasis will help to better predict its biological behaviors.

Objective : To develop an endoscopic automatic detection system in early gastric cancer (EGC) based on a region-based convolutional neural network ( Mask R-CNN) ． Methods : A total of 3 579 and 892 white light images (WLI) of EGC were obtained from the First Affiliated Hospital of Anhui Medical University for training and testing，respectively．Then，10 WLI videos were obtained prospectively to test dynamic performance of the RCNN system．In addition，400 WLI images were randomly selected for comparison with the Mask R-CNN system and endoscopists．Diagnostic ability was assessed by accuracy，sensitivity，specificity，positive predictive value ( PPV) ， and negative predictive value (NPV) . Results : The accuracy，sensitivity and specificity of the Mask R-CNN system in diagnosing EGC in WLI images were 90. 25% ，91. 06% and 89. 01% ，respectively，and there was no significant statistical difference with the results of pathological diagnosis．Among WLI real-time videos，the diagnostic accuracy was 90. 27%．The speed of test videos was up to 35 frames / s in real time．In the controlled experiment， the sensitivity of Maks R-CNN system was higher than that of the experts (93. 00% vs 80. 20% ，χ2 = 7. 059，P < 0. 001) ，and the specificity was higher than that of the juniors (82. 67% vs 71. 87% ，χ2 = 9. 955，P＜0. 001) ， and the overall accuracy rate was higher than that of the seniors (85. 25% vs 78. 00% ，χ2 = 7. 009，P＜0. 001) . Conclusion The Mask R-CNN system has excellent performance for detection of EGC under WLI，which has great potential for practical clinical application.