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Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and Fabry disease. Previous therapies did not target the etiology and pathogenesis and therefore were less effective. In recent years, treatments targeting different mechanisms of myocardial hypertrophy have achieved good results. Mavacamten can reduce myocardial contractility by inhibiting ATP activity, thereby significantly improving left ventricular outflow tract(LVOT) obstruction, cardiac contractility, ventricular tension, and limitting myocardial damage. By inhibiting the dissociation of transthyretin(TTR) and subsequent formation and deposition of the amyloid fibril, tafamidis can reduce the mortality and morbidity of patients with transthyretin cardiac amyloidosis(ATTR-CA). Gene silencing and gene editing technology can reduce abnormal TTR levels. Synthesis of α-galactosidase A by gene recombination technology in vitro can effectively reduce left ventricular mass index(LVMi), improve cardiac function, reduce angina attacks and decrease mortality of Fabry disease.
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To evaluate the efficacy of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for patients with metastases to the pancreas.Data on patients with pancreatic lesions who underwent EUS-FNA and confirmed as having metastases to the pancreas at the Endoscopy Center of Zhongshan Hospital, Fudan University from January 2015 to November 2020 were retrospectively analyzed.Characteristics of patients, EUS performance, pathological results, and follow-up were reviewed and analyzed. A total of 11 patients were diagnosed of metastasis to pancreas by EUS-FNA.The primary tumor mainly came from kidney (4/11) and lung (4/11), and the rest from colon (1/11), breast (1/11) and bladder (1/11), respectively. EUS performance of metastases to the pancreas mostly presented homogeneous hypoecho (10/11)with unclear margin (6/11). Enlarged lymphnodes were noticed in nearly half of the patients (5/11). The time span from detection of primary tumor to metastases ranged from 6 days to 27 years. EUS-FNA is effective in the diagnosis of metastases to the pancreas.
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Inherited retinal diseases (IRDs), one type of the major eye diseases resulting in blindness, can be caused by more than 270 identified causative genes.The most common form of IRDs is retinitis pigmentosa.There is no generally accepted cure for vision impairment due to IRDs.In recent years, the first gene replacement therapy has been approved for the treatment of autosomal recessive IRDs.Because of the variety of pathogenesis, including gain-of-function and dominant-negative effects in addition to a few loss-of-function mutations, gene replacement therapy of autosomal dominant IRDs is not always effective.The clinical manifestations of autosomal dominant IRDs are extremely complex, and there is no appropriate treatment in clinical practice.The latest progresses in pathogenesis, clinical features, treatment strategies and directions of autosomal dominant IRDs globally were reviewed, and the most common genes causing autosomal dominant IRDs were summarized in this article in order to provide a deeper understanding of autosomal dominant IRDs.
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Objective:To explore the application of lecture-based learning (LBL) combined with problem-based learning (PBL) in the teaching of pathophysiology case analysis.Methods:The subjects were 62 preventive medicine majors of Grade 2015 and 68 stomatology majors of Grade 2015, and the course content was case analysis. PBL teaching was implemented in the preventive medicine major group and LBL+PBL teaching was implemented in the stomatology major group. Both groups received 6 class hours, among which the LBL+PBL teaching hours were allocated 2 class hours for LBL and 4 class hours for PBL. In addition, the questionnaire was used to evaluate the teaching effects between the two groups, and the descriptive analysis was used to evaluate relevant data lines.Results:Eleven students (17.742%) from the preventive medicine major group chose PBL teaching, while 38 students (92.647%) in the stomatology major group held a very positive attitude towards LBL+PBL teaching. It can be seen that the recognition degree of LBL+PBL teaching in the stomatology major group was higher than that of PBL teaching in the preventive medicine major group.Conclusion:Since students have received LBL teaching mode for a long time, it is difficult to accept and adapt to PBL teaching in terms of thinking and teamwork. Therefore, in the course of pathophysiology case analysis, LBL+PBL teaching shows a good effect, which is worthy of further exploration.
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Objective To investigate the accuracy of observing common bile duct ( CBD ) residual stones by saline injection through endoscopic nasobiliary drainage ( ENBD ) under the guidance of ultrasound after endoscopic retrograde cholangiopancreatography (ERCP), endoscopic sphincterotomy (EST) and endoscopic stone extraction . Methods From October 2014 to August 2015, 58 patients with CBD stones received ENBD after endoscopic stone extraction .Ultrasound examination was performed on the 1-5 postoperative days .After routine examination by a professional ultrasound doctor , a total of 50-200 ml saline was injected through ENBD slowly at a rate of 100 ml/min.Ultrasonic results, including changes of bile duct diameter and detection rate of CBD residual stones , were compared before and after the injection . Results All the 58 patients were given ENBD cholangiography after endoscopic stone extraction .Among them, CBD residual stones were detected positive in 3 patients and negative in 55 patients by ENBD cholangiography .Among the 55 patients, CBD residual stones were detected in 1 patient by routine ultrasound which was confirmed after injection .Among the other 54 patients who were not detected stones by routine ultrasound , failure of injection occurred in 1 patient due to the damage of ENBD , and 2 patients showed bad tolerance of abdominal pain after injection of 20 ml saline and 3 patients were detected CBD residual stones after injection .While the other 48 patients were negative with CBD residual stones.For the 3 patients who were detected residual stones by cholangiography , routine ultrasound showed negative results but stones were detected after injection .Stone removal was achieved in 5 patients.The Youden index for CBD residual stones by saline injection through ENBD under ultrasound was 0.98, which was higher than cholangiography (0.4) and routine ultrasound (0.2).Among the 57 patients who underwent injection , obvious dilation of the diameter and length of the CBD was observed after injection in 56 patients (P<0.05). Conclusions For patients with ENBD, observing CBD residual stones by saline injection through ENBD under ultrasound has advantages of non-invasion, non-radiation, inexpensive cost , repeatedly checking and dynamic observation .It has a very important reference value in diagnosing CBD stones and proposes a new examination .
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Objective To explore the expressions of interleukin (IL)-17A and its receptor IL-17RA in different degrees of malignant gliomas. Methods Fifty patients with glioma were collected in this study. Accordance to the World Health Organization Classification System, patients were classified by malignancy grade, including gradeⅠ(n=12), gradeⅡ(n=18), gradeⅢ(n=13) and gradeⅣ(n=7). The glioma tissue and peripheral blood samples of patients were obtained for detecting the expression levels of IL-17A and IL-17RA mRNA by using immunohistochemistry, quantitative real-time PCR. Western blot assay was used to detect expressions of IL- 17A and IL- 17RA in both the macroscopic (immunohistochemistry) and molecular levels (mRNA and protein). Results Immunohistochemical staining showed that the expression levels of IL-17A and its receptor IL-17RA increased with the increase of the malignant degree of gliomas. The mRNA levels of IL-17A and IL-17RA receptors in peripheral blood were up-regulated with the increasing malignancy grade of glioma (F=8.96, P<0.05;F=10.34, P<0.05). The mRNA levels of IL-17A and IL-17RA in glioma tissues were up-regulated with the increasing malignancy grade of glioma (F=11.21, P<0.05;F=14.11, P<0.05). The protein levels of IL-17A and IL-17RA in peripheral blood and glioma tissues were also up-regulated with the increasing malignancy grade of glioma (in peripheral blood:F=9.90, P<0.05;F=11.80, P<0.05;and in gliomas tissues:F=8.15, P<0.05;F=14.46, P<0.05). Conclusion The expressions of IL-17A and IL-17RA receptor are positively correlated with malignancy grade of glioma. These results provide some reference for clinical diagnosis of malignant gliomas.
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AIM:To explore the effects of pGRIM-19-si-survivin co-expression plasmid carried by human at-tenuated Salmonella on prostate cancer subcutaneous xenograft growth in nude mice .METHODS: Prostate cancer xeno-graft model was established in nude mice .Co-expression plasmids carried by attenuated Salmonella were introduced by in-traperitoneal injection .The xenograft volumes were monitored timely .Immunohistochemical staining , RT-PCR and TUNEL assay were applied to investigate the related mechanisms that pGRIM-19-si-survivin inhibited tumor growth in vivo.RE-SULTS:Compared with psi-survivin and pGRIM-19 carried by attenuated Salmonella ( control groups ) , the tumor volumes were reduced markedly in pGRIM-19-si-survivin plasmid group .The mean shrinkage rates were 2.36 and 3.02 times. pGRIM-19-si-survivin co-expression plasmid carried by attenuated Salmonella inhibited survivin expression but strengthened GRIM-19 expression obviously (P<0.05).The mRNA expression of apoptosis-related proteins such as Bcl-xL, Stat3, cy-clin D1 and c-Myc was inhibited , and the vascular endothelial growth factor ( VEGF) mRNA and Ki67 protein were also in-hibited, but the caspase-3 mRNA expression was up-regulated ( P<0.05 ) with significant cell apoptosis .CONCLU-SION:pGRIM-19-si-survivin co-expression plasmid carried by human attenuated Salmonella inhibits the growth of prostate cancer subcutaneous xenografts in nude mice by promoting cell apoptosis and inhibiting prostatic cancer proliferation .
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Obiective To construct the manageable, stable and reliable computer terminal environment for the hospital. Technology was successfully applied to the outpatient doctor workstation and the student electronic reading room in one hospital, and the system was running well.Conclusion The technical application can not only ensure the system security and stability, but also realize centralized management and improve efficiency.
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Objective To observe the clinical effects of Naloxone and Methylprednisolone(MPS) on therapy of severe bronchiolitis. Methods 98 cases of severe bronchihtis were randomly divided into 2 groups,the Naloxone/MPS treating group and the control group,the later only give regular treatment. Results The Naloxone/MPS treating group scored significantly lower at the time of 48 hours and 5 days(P＜0.001),according to cough,dyspnia and other respiratory symptoms,and the efficacy of Naloxone/MPS treatment is appreciately higher than control(P＜0.01). Conclusion Naloxone and MPS therapy shows remarkable clinical beneficial effects on severe bronchiolitis.
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AIM: To study the protective effects of basic fibroblast growth factor (bFGF) on myocardial ischemia in rats and their underlying mechanism. METHODS: A rat myocardial ischemic injury model was established by left coronary artery ligation. The rats were killed at 2 h, 4 h, 8 h after coronary artery occlusion. The samples of blood and myocardium were collected for observing the expression of Bcl-2 and Bax in myocardial cells and the changes of superoxide dismutase (SOD) or myocardial enzymes. RESULTS: The amount of Bcl-2 protein expression of myocardial cells in ischemia + bFGF group was significantly higher than that in ischemia+saline group (P