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Objective To investigate the etiological and clinical features of patients with unexplained liver disease manifesting as isolated jaundice and the value of whole-exome sequencing in the diagnosis of such diseases. Methods A retrospective analysis was performed for the clinical data of the patients who attended Nanjing Second Hospital due to unexplained liver disease and underwent whole-exome sequencing from February 2017 to December 2021, and according to liver function parameters and imaging data, all cases were classified based on clinical phenotype and were diagnosed based on the whole-exome sequencing report. The Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups, and the Kruskal-Wallis H test was used for comparison between multiple groups. Results A total of 519 patients underwent whole-exome sequencing, among whom 102 patients with missing or incomplete clinical data were excluded, and finally 417 patients were included in analysis, among whom 91(91/417, 21.82%) had the manifestation of isolated jaundice. The etiology of jaundice was not determined by whole-exome sequencing in 8 patients (8/91, 8.79%). With reference to genetic testing results, 83 patients (83/91, 91.21%) had a confirmed diagnosis, among whom there were 68 patients with hereditary hyperbilirubinemia (68/91, 74.72%), 3 patients with hereditary spherocytosis (3/91, 3.30%), 2 patients with pyruvate kinase deficiency (2/91, 2.20%), and 10 patients with UGT1A1 gene disease combined with other diseases (10/91, 10.99%). Hereditary hyperbilirubinemia was the main etiology, and there were 61 patients with UGT1A1 gene disease (61/91, 67.03%), 5 patients with Dubin-Johnson syndrome (5/91, 5.49%) and 2 patients with Rotor syndrome (2/91, 2.20%). There was a significant difference in indirect bilirubin/total bilirubin ratio between the patients with the different diagnoses above ( H =22.835, P < 0.05), and the patients with UGT1A1 gene disease and other diseases had a significantly higher level of total bilirubin than those with UGT1A1 gene disease alone [95.8 (37.5-187.1) μmol/L vs 51.4 (34.8-267.1) μmol/L, Z =-2.372, P =0.018]. Conclusion Whole-exome sequencing can help with the diagnosis of most cases of unexplained liver disease manifesting as isolated jaundice. Hereditary hyperbilirubinemia is the main etiology, and UGT1A1 gene disease is the most common disease. Whole-exome sequencing can assist the clinical diagnosis of unexplained liver disease manifesting as isolated jaundice.
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Purpose@#To analyze the gene mutation, immune infiltration and tumor growth of primary tumor and distant tumor under different treatment modes. @*Materials and Methods@#Twenty B16 murine melanoma cells were injected subcutaneously into the of both sides of the thigh, simulating a primary tumor and a secondary tumor impacted by the abscopal effect, respectively. They were divided into blank control group, immunotherapy group, radiotherapy group, and radiotherapy combined immunotherapy group. During this period, tumor volume was measured, and RNA sequencing was performed on tumor samples after the test. R software was used to analyze differentially expressed genes, functional enrichment, and immune infiltration. @*Results@#We found that any treatment mode could cause changes in differentially expressed genes, especially the combination treatment. The different therapeutic effects might be caused by gene expression. In addition, the proportions of infiltrating immune cells in the irradiated and abscopal tumors were different. In the combination treatment group, T-cell infiltration in the irradiated site was the most obvious. In the immunotherapy group, CD8+ T-cell infiltration in the abscopal tumor site was obvious, but immunotherapy alone might have a poor prognosis. Whether the irradiated or abscopal tumor was evaluated, radiotherapy combined with anti-programmed cell death protein 1 (anti-PD-1) therapy produced the most obvious tumor control and might have a positive impact on prognosis. @*Conclusion@#Combination therapy not only improves the immune microenvironment but may also have a positive impact on prognosis.
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Objective:To analyze and summarize the clinical effects of 3D printed porous titanium-alloy prosthesis implantation in the treatment of long bone defects of lower extremities.Methods:We retrospectively studied the clinical cases with lower extremity bone defect treated by 3D printed porous titanium prostheses from December 2017 to November 2021. 18 patients who were followed up for more than 12 months were included in this study. The enrolled patients included 12 males and 6 females, with an average of 48.9±22.5 years (range, 13-79 years), and an average body mass index of 23.1±4.3 kg/m 2 (range, 17.2-27.1 kg/m 2). There were 14 osteomyelitis-derived bone defects and 4 nonunion-derived bone defects. The bone defect locations included 10 cases of femur and 8 cases of tibia. The average bone defect distance was 13.9±9.7 cm (range, 5.8-31.2 cm), and the proportion of the defect length to the long bone (femur of tibia) was average 33.7%±16.8% (range, 15.0%-63.0%). The clinical efficacy was comprehensively evaluated through gross observation, imaging evaluation, changes in the total length of lower extremities and long bones, femorotibial angle (FTA) measurement, lower extremity functional scale (LEFS), satisfaction, complications and other indicators, focusing on the stabilization mechanism of the prosthesis and the regeneration of new bone. Results:All 18 patients were followed up for 12-35 months, with an average of 16.3 months. Postoperative X-rays at 1, 3, 12 and 24 months showed that new bone could gradually creep along the prosthesis surface. The preoperative bone defect length of long bone and total length of lower limb were respectively 39.4±4.0 cm and 80.5±5.7 cm, which were different from those of the healthy side by 1.6±1.0 cm and 1.5±1.1 cm. One week after implantation, the length of long bone and lower limb was 39.9±3.5 cm and 80.9±6.2 cm, respectively, and the average difference was 1.0±0.6 cm and 0.9±1.1 cm compared with the healthy side. At the last follow-up, the length of long bone and lower limb was 39.7±3.6 cm and 80.9±7.8 cm, with an average difference of 1.8±1.1 cm and 1.0±0.7 cm from the healthy side. There were no significant differences in the length of long bone and lower limbs at the three time points before surgery, one week after surgery and the last follow-up ( F=0.12, 0.04; P>0.05). The average FTA of the affected limb was 174.7° (173.9°, 175.5°), 175.2°(173.5°, 176.4°), and 175.0°(173.5°, 176.3°) at three time nodes, before surgery, one week after surgery and the last follow-up, respectively, and there was no significant statistical difference in pairwise comparison ( Z=0.01, P>0.05). Patients had a mean LEFS score of 50 (46, 51) at the last follow-up, significantly higher than the preoperative score of 20 (17, 21) ( Z=-5.56, P<0.001). The mean satisfaction score of the 18 patients at the last follow-up was 9.7. Two patients (11.1%) had screw fractures but all 3D printed porous titanium alloy prostheses remained stable without significant loosening or displacement. Two patients (11.1%) had nail channel infection of external fixator, all patients with channel infection were cured by intravenous antibiotics combined with local disinfection and dressing change. Conclusion:The implantation of 3D printed porous titanium-alloy prosthesis could efficiently and safely repair the long bone defects of the lower extremities. The prosthesis could maintain stable in the early and middle postoperative period. The length of the long bones and lower limbs did not change significantly with the weight-bearing and functional exercise of the limbs. The new bone could gradually crawl and grow from both ends of the defect, and the patient's limb function recovered significantly, and the patient's satisfaction was high.
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Objective To investigate the preventive effect of intrarectal application of indomethacin on hyperamylasemia and acute pancreatitis after endoscopic retrograde cholangiopancreatography ( ERCP ) .Methods 180 patients who underwent ERCP were randomly divided into the indomethacin group, somatostatin group and control group.The serum amylase levels were measured before ERCP, 3 and 24 hours after the drug application.The incidences of post-ERCP hyperamylasemia and pancreatitis were observed.Results Serum amylase levels before and 3h after ERCP of three groups had no differences.The serm amylase levels of control group 24 h after ERCP (228.50 ±121.72) U/L was significantly higher than that of indomethacin group (94.09 ±68.45) U/L (P <0.01) and somatostatin group (76.53 ±74.47) U/L (P <0.05), while there was no difference between indomethacin group and somatostatin group.Compared with before ERCP, the serum amylase levels significantly increased in both control group 3 and 24h after ERCP (P <0.01), as well as in both indomethacin group and somatostatin group 3h after ERCP (P <0.05), but there were no apparent differences between pre-ERCP and 24 h after ERCP in both indomethacin group and somatostatin group.The incidences of post-ERCP hyperamylasemia in both indomethacin group and somatostatin group ( 10.00%, 11.67%) respectively was much lower than that in control groups (35.00%, P<0.01).The incidence of post-ERCP pancreatitis in indomethacin group (3.33%) was also lower than that in control group (15.00%, P<0.05), whlie there was no difference between indomethacin group and somatostatin group (5.00%).Conclusion The intrarectal application of indomethacin can effectively prevent acute pancreatitis after ERCP, which has the same effect as intravenous application of somatostatin.It is also convenient, economic and safe.
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Objective To evaluate the practical efficacy of comparison method in experimental teaching of pathological anatomy.Methods The junior college students of stomatology were divided into experimental group (n =48) and control group (n =48) randomly.Students in experimental group adopted the experimental teaching with comparison method of pathological anatomy and histology while those in control group followed the traditional experimental teaching.Experiment examination results of two groups were compared and questionnaire investigation was carried out among students in experimental group.Results Average score of experiment examination in experimental group was (88.35 ±5.68) while that in control group was (78.35 ±4.86),with statistical differences (P ＜0.01).The results of questionnaire investigation showed that students in experiment group preferred comparison teaching method.Conclusions Comparison teaching method is feasible,the mechanism of which emphasizes gaining new knowledge by reviewing the old and strengthens the contact of basic subjects,therefore it is conducive to enhancing the quality of pathological experimental teaching.
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Objective To investigate changes of esophagogastric varicosis,and portal hemodynamics in cirrhotic portal hypertensive patients after Hassab surgical operation. Method The changes of esophageal varicosis and gastric varices incidences at different phases of cirrhotic patients after the Hassab surgical operation were examined by electric endoscope.Hemodynamics of portal vein system was measured by Doppler color imaging and color Doppler ultrasound after operation. Results Mild esophageal varicosis incidences on the 6th,12th and 18th month after the Hassab surgical operation were respectively 44.1%,34.7% and 28.4%,higher than that before operation (7.5%) (P＜0.05).Severe esophageal varicosis incidences on the 6th,12th and 18th month were respectively 25.1%,30.0% and 35.0%,lower than that before operation (65.2%) (P ＜ 0.05).Mild esophageal varicosis with gastric varices incidences on the 6th,12th,18th and 24th month before and after operation were respectively 16.6%,and 7.4%,9.2%,9.1%,10.3% respectively.Severe esophageal varicosis with gastric varices incidences in the 6th,12th,18th and 24th month were respectively 43.8%,and 45.8%,45.2%,47.4%,48.8% (P＜0.05).Inner diameter of portal vein and the right branch of portal vein on the 6th and 12th month before and after operation were respectively (13.5±1.7) mm,(9.8±2.0) mm,(10.5±2.2) mm,(11.2±1.2) mm,(8.1 ± 1.3) mm and (8.2 ± 2.2) mm (P ＜ 0.05).Maximum flow rate and blood flow of portal vein,velocity of the left of portal vein in the 6th and 12th month were respectively (13.6 ±2.6) cm/s,(1095 ±290) ml/min,(13.3±2.6) cm/s,(11.5 ±1.6) cm/s,(11.8 ±1.8) cm/s,(847 ±249) ml/min,(907 ± 310) ml/min,(11.0 ± 1.9) cm/s and 11.1 ± 1.9 cm/s (P ＜ 0.05).Velocity of the right of portal vein in the sixth month were (11.6 ± 2.6) cm/s,which was significantly slower than preoperative level of (13.2 ± 2.9) cm/s. Conclusion After the Hassab surgical operation the degree of esophageal varices lightens during 18 months and aggravates after 18 months.There is obvious relation between gastric varices and the degree of esophageal varices.Velocity of portal blood flow becomes slow,blood flow diminishes and inner diameter reduces after the Hassab surgical operation.
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Objective To analyze the changes of varicosis and hemodynamics in cirrhotic patients with portal vein hypertension at different stages after Hassab devascularization, and to evaluate the outcome.Methods Hassab devascularization was performed in 161 patients with portal vein hypertension, who were all evaluated by means of endoscopy, Doppler color imaging and Child-Pugh grading before and 6, 12, 18,24 months after the procedure, respectively.Results The rates of mild esophageal varicosis were 44.0%,34.8% and 28.3% at 6, 12 and 18 months after Hassab devascularization, respectively, which were all significantly higher than that before the operation(7.5%, P ＜ 0.05), while the rates of severe esophageal varicosis were 25.2%, 29.7% and 34.9% at 6, 12 and 18 months after the procedure, which were significantly lower than that before(65.2%, P ＜ 0.05).The incidence of varices in gastric fundus was correlated with the severity of esophageal varices.At 12 months after the operation, the inner diameters of portal vein and its right branch significantly decreased when compared with those before(P ＜ 0.05), the maximal flow rate,volume of portal vein and average flow rate of the left branch also significantly decreased(P ＜ 0.05).At 6 months after the operation, the average flow rate of the right branch slowed down(P ＜ 0.05).Child-Pugh Grade A accounted for 63.5%, 60.6% and 57.9% at 6, 12 and 18 months after the operation, respectively, which were significantly higher than that before(48.4%, P ＜0.05).When evaluated at 24 months after the procedure, all variables were getting close to those before.Conclusion The severity of esophageal varices mitigates in 18 months after Hassab.Hemodynamics of portal vein system decreases in 12 months.The overall liver function improves in 18 months after the operation.
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Objective:To study the torsional property and rotary fatigue fracture of Smart K files and R reamers made of nickel-titanium alloy. Methods:The torsional property and rotary fatigue fracture behavior of Smart K files and R reamers were evaluated by means of specially-designed torsional device and simulated endodontic root canals system. The instrument surface and the rotary fatigue fractured surface were investigated by optical microscope and scanning electron microscope. Results:Compared with ANSI/ADA specification No.28, maximum torque values of Smart K and R endodontic instrument were higher. Tensile stresses on the outer surface of the endodontic instruments played a dominant role in fracture initiation during rotary fatigue fracture. The rotary numbers corresponding to rotary fatigue fracture decreased with the increase of the instrument size and curvature. Smart K and R endodontic instruments exhibited good ductility. Dimples were found on the fractured surface, and the fatigue fracture was the typical ductile fracture. Conclusion:Smartendodontic instruments have excellent torsional and rotary fatigue fracture resistance properties.