1.Mitochondrial DNA depletion syndrome 8A complicated with nephrotic syndrome caused by RRM2B gene variation: a case report and literature review
Danni YANG ; Lu CAO ; Huating ZHANG ; Jianjiang ZHANG
Chinese Journal of Nephrology 2024;40(10):818-822
Mitochondrial DNA depletion syndrome (MDS) is a group of genetic diseases in which the number of mitochondrial DNA copies is severely decreased due to mutations in nuclear genes and affects energy metabolism in several tissues and organs. Renal involvement of MDS is often manifested as proximal renal tubular disease, while MDS combined with nephrotic syndrome is rare. This paper report a case of child with mitochondrial DNA depletion syndrome 8A (MTDPS8A) complicated with nephrotic syndrome due to compound heterozygous variants of RRM2B gene. The child mainly presented with epilepsy, auditory dysfunction, and nephrotic syndrome as clinical manifestations. The histopathological findings indicated focal segmental glomerulosclerosis (collapsing variant). The child was treated with glucocorticoid combined with immunosuppressant, energy support and symptomatic treatment, while the effect was not significant. He continued to experience progressive deterioration of renal function during the six-month follow-up period and had a long-term peritoneal dialysis for maintenance therapy.
2.Practice and thinking of designated hospital medical emergency support for the 19th Hangzhou Asian Games
Jianjiang QI ; Huiquan JIANG ; Haiqing XIANG ; Yijun YUAN ; Yue ZHAN ; Yue YANG ; Jian PAN ; Li ZHU ; Zeyang ZHAO ; Lin LYU ; Xinwei JIANG ; Zhen JIANG ; Ganying HUANG
Chinese Journal of Emergency Medicine 2023;32(12):1617-1622
Objective:To analyze the construction and operation of the 19th Hangzhou Asian Games designated hospitals, and to discuss the medical emergency security work of large-scale sports events, so as to provide references for the planning of designated hospitals in future large-scale sports events.Methods:Retrospective analysis was made on the establishment principles, requirements, selection of medical support personnel, and training exercises of the designated hospitals, focusing on the key links such as organizational system, staffing, designated areas, and drug management.Results:Total of 40 designated hospitals have successfully completed the task of medical security by rebuilding the medical security area of the Asian Games, elevating the process, equipping facilities, and strengthening staff training. During the Asian Games, 349 people were transferred to designated hospitals by ambulance, 54 people were hospitalized, 19 people underwent surgery, and 1022 people went to designated hospitals by themselves.Conclusion:The construction of the designated hospitals during the 19th Hangzhou Asian Games was of high quality, efficient and smooth operation. It is suggested that efforts should be made in the reconstruction of the medical security area for the Asian Games to be "relatively independent". The treatment process of self-visiting patients should be fully considered and the flat urgent emergency response mechanism needs to be established.
3.Efficacy and safety of anlotinib combined with whole brain radiation therapy in treatment of driver gene mutation-negative non-small cell lung cancer patients with multiple brain metastases
Jie YANG ; Jianjiang LIU ; Jiwei MAO ; Dongping WU
Cancer Research and Clinic 2023;35(9):664-669
Objective:To investigate the efficacy and safety of anlotinib combined with whole brain radiation therapy in the treatment of driver gene mutation-negative non-small cell lung cancer (NSCLC) patients with multiple brain metastases.Methods:Forty-two driver gene mutation-negative NSCLC patients with multiple brain metastases who were admitted to Shaoxing People's Hospital from March 2018 to March 2022 were included. Among them, 21 patients in the anlotinib combined with whole brain radiation therapy group were enrolled from a prospective single-arm study (clinical trial registration number: ChiCTR1900027769), and the patients in the whole brain radiation therapy-alone group were enrolled from a concurrent retrospective study, and after 1∶1 propensity score matching, a total of 21 patients were finally included. The intracranial objective response rate (iORR), intracranial disease control rate (iDCR), intracranial progression-free survival (iPFS), overall survival (OS), and adverse events were compared between the two groups.Results:Among 21 patients in the arotinib combined with whole brain radiation therapy group, there were 1 case (4.8%) of complete remission (CR), 13 cases (61.9%) of partial remission (PR), 6 cases (28.6%) of stable disease (SD), and 1 case (4.8%) of progressive disease (PD). Among 21 patients in the whole brain radiation therapy-alone group, there were 0 case of CR, 10 cases (47.6%) of PR, 7 cases (33.3%) of SD, and 4 cases (19.0%) of PD. The iORR was 66.7% (14/21) and 47.6% (10/21) in the anlotinib combined with whole brain radiation therapy group and whole brain radiation therapy-alone group, respectively ( P = 0.212), and the iDCR was 95.2% (20/21) and 81.0% (17/21), respectively ( P = 0.343). The median iPFS time was 10.4 and 5.3 months in the anrotinib combined with whole brain radiation therapy group and the whole brain radiation therapy-alone group, respectively, and the difference in iPFS between the two groups was statistically significant ( P = 0.049); the 1-year OS rate was 50.5% and 39.5%, and the 2-year OS rate was 29.9% and 26.3%, respectively, with the median OS time of 13.4 and 6.6 months, respectively. The difference in OS between the two groups was not statistically significant ( P = 0.452). The most common treatment-related adverse effects in the anlotinib combined with whole brain radiation therapy group were loss of appetite (13/21, 61.9%), hypertension (11/21, 52.4%), fatigue (10/21, 47.6%), diarrhea (6/21, 28.6%), vomiting (6/21, 28.6%), dizziness (9/21, 42.9%), and headache (8/21, 38.1%). No ≥grade 4 adverse effects were observed, and there were no significant differences in adverse effects between the two groups (all P > 0.05). Conclusions:Anlotinib combined with whole brain radiation therapy can prolong the iPFS time of driver gene mutation-negative NSCLC patients with multiple brain metastases, and it is well-tolerated in terms of safety.
4.Risk analysis of brain metastases in limited-stage small cell lung cancer (LS-SCLC)achieving complete remission after thoracic radio-chemotherapy
Bin SHEN ; Jianjiang LIU ; Guoqin QIU ; Yongling JI ; Xianghui DU ; Yang YANG
Chinese Journal of Radiation Oncology 2022;31(7):611-616
Objective:Small cell lung cancer (SCLC) is a highly malignant tumor with a high risk of brain metastasis (BMs). The purpose of this study was to evaluate the clinical factors affecting the occurrence of BMs in patients with stage IIB-IIIB SCLC who achieved complete remission (CR) after thoracic radio-chemotherapy.Methods:Clinical data of 191 patients with stage IIB-IIIB SCLC who achieved CR after thoracic radio-chemotherapy in Zhejiang Cancer Hospital from January 2009 to April 2016 were retrospectively analyzed. Common clinical factors related to the risk of BMs, including gender, age, thoracic radiotherapy dose, combined mode of radiotherapy and chemotherapy, pretreatment serum NSE and LDH, whether PCI was performed, TMN stage and PS score, were analyzed using log-rank method for univariate analysis, COX regression method for multivariate analysis and Kaplan-Meier method to plot the survival curve.Results:Univariate analysis showed that pretreatment LDH level≥240IU, pretreatment NSE ≥17 ng/ml and no PCI were positively correlated with the risk of BMs (all P<0.05). Multivariate analysis showed that the risk of BMs was only positively correlated with pretreatment LDH≥240IU [HR: 1.90, 95%CI(1.07-3.37), P=0.029], and no PCI [HR:2.08, 95%CI(1.17-3.72), P=0.013]. Conclusion:Pretreatment serum LDH levels provide important value for predicting the risk of BMs in patients with stage IIB-IIIB SCLC who achieve CR after thoracic radio-chemotherapy.
5.Role of HIF-1α/BNIP3 signaling pathway in sevoflurane-induced attenuation of myocardial ischemia-reperfusion injury in rats: relationship with autophagy
Long YANG ; Ning MA ; Jianjiang WU ; Jin YU ; Jianrong YE ; Jiang WANG ; Hong ZHENG
Chinese Journal of Anesthesiology 2020;40(1):99-102
Objective:To evaluate the role of hypoxia-inducible factor-1α (HIF-1α)/Bcl-2/E1B-19kDa interacting protein 3 (BNIP3) signaling pathway in sevoflurane-induced attenuation of myocardial ischemia-reperfusion (I/R) injury in rats and the relationship with autophagy.Methods:Ninety healthy adult male Sprague-Dawley rats, weighing 300-350 g, were randomly divided into 5 groups ( n=18 each): sham operation group (Sham group), I/R group, sevoflurane group (SEV group), HIF-1a inhibitor 2ME2 group (2ME2 group), and 2ME2+ sevoflurane group (MSP group). Myocardial I/R injury model was established by ligating the left anterior descending branch of coronary artery for 40 min followed by 120-min reperfusion in anesthetized rats.In SEV group, 2.4% sevoflurane was inhaled for 15 min starting from the beginning of reperfusion.In 2ME2 group and MSP group, 2ME2 (15 mg/kg) was intraperitoneally injected at 1 h before ligation of the left anterior descending branch of coronary artery, and the other treatments were similar to those previously described in group I/R or in group SEV.Animals were sacrificed at 120 min of reperfusion, and the left ventricular myocardium was taken for determination of the expression of HIF-1α and BNIP3 (by Western blot), activity of ROS (by DHE), and myocardial infarct size (by TTC)and for observation of autophagosome (with an electron microscope). Results:Compared with Sham group, the activity of ROS, the number of autophagosome and myocardial infarct size were significantly increased in the other four groups, the expression of HIF-1α and BNIP3 was up-regulated in I/R group and SEV group ( P<0.05). Compared with I/R group, the activity of ROS, the number of autophagosome and myocardial infarct size were significantly decreased in the other four groups, the expression of HIF-1α and BNIP3 was up-regulated in SEV group, and no significant difference was found in the activity of ROS, the number of autophagosome or myocardial infarct size ( P>0.05), and the expression of HIF-1α and BNIP3 was down-regulated in 2ME2 and MSP groups ( P<0.05). Compared with SEV group, the activity of ROS, the number of autophagosome and myocardial infarct size were significantly increased, and the expression of HIF-1α and BNIP3 was down-regulated in 2ME2 and MSP groups ( P<0.05). Conclusion:HIF-1α/BNIP3 signaling pathway is involved in sevoflurane-induced attenuation of myocardial I/R injury, which is related to inhibiting autophagy in rats.
6.Effect of DKK1 on proliferation, cell cycle and apoptosis of gastric cancer AGS cells
LUO Mei ; ZHOU Jianjiang ; WANG Qinrong ; YANG Liping ; CHEN Xueshu ; LONG Niya ; XIE Yuan ; ZHAO Yan
Chinese Journal of Cancer Biotherapy 2019;26(12):1324-1330
Objective: :To study the effect of silencing DKK1 (Dickkopf1) gene on the proliferation, cell cycle and apoptosis of gastric cancer AGS cells and the action mechanism. Methods: :The DKK1-shRNA vector was constructed and transfected into AGS cells. The stably transfected cell lines were screened. The total protein and RNAof the transfected cells were extracted and the mRNAand protein expressions of DKK1 were detected by qPCR and WB, respectively. The experiment was divided into blank control group (Control), negative control group (shNC) and DKK1 silence group (DKK1-shRNA). CCK8 assay was used to detect the proliferation ofAGS cells of each group cultured for 0, 24, 48, 72, 96, 120 and 144 h, and flow cytometry was used to analyze the cell cycle and apoptosis in each group. The relationship between DKK1 and clinicopathological features of gastric cancer was analyzed after searching HPA database. Results:The gastric cancer AGS cells with stable DKK1 gene knockdown was successfully established, and it was confirmed that the mRNA and proteinexpressions of DKK1 in DKK1-shRNA group decreased by 72% and 47%, respectively, compared to shNC group (all P<0.05). The cell proliferation curve showed that, the cell proliferation in DKKl-shRNAgroup significantly decreased after 72 hour of culture compared with that in control and shNC groups (P<0.05). The cell number of S phase decreased from 32.06% to 25.87%, while the number of G2/M phase increased from 8.49% to 21.26% compared with shNC group (all P<0.05). The number of apoptotic cells also statistically increased from 10.34% to 20.65% (all P<0.05). The data of HPAdatabase showed that DKK1 mRNAlevel in gastric cancer tissues was significantly higher than that in normal tissues, and the high expression of DKK1 mRNAwas negatively correlat
ed with the survival rate of gastric cancer patients. Conclusion: : Silencing DKK1 gene can inhibit the proliferation of gastric cancer cells, arrest cells in G2/M phase and promote cell apoptosis. DKK1 plays a pro-carcinogenic effect in gastric cancer.
7.Transplantation of lobulated free latissimus dorsi flap for repairing irregular soft tissue defect of shank
Yang SHAO ; Wei LIN ; Jianjiang LIU ; Wenjun HE ; Weixin CHEN ; Ke LI ; Guoliang SHEN ; Xiaoyu ZHAO
Chinese Journal of Microsurgery 2019;42(5):450-454
To investigate the feasibility and clinical effects of lobulated free latissimus dorsi flap in repairing severe shank trauma with irregular soft tissue defect. Methods Eight patients with soft tissue defect of shank due to trauma were treated from February, 2013 to November, 2018, which were 5 males and 3 females. All wounds were irregular.The size of soft tissue defect ranged from 11.0 cm×15.0 cm to 15.0 cm×23.0 cm, with different degrees exposure of deep tissue such as bone and tendon. Five cases out of 8 were infected wound, 3 cases of which had internal fixation bracket exposed. Five infected wounds were firstly treated with negative pressure after debride-ment, then repaired with flap transplantation until the infection were completely controlled. Other wounds were re-paired directly after debridement. The free lobulated latissimus dorsi flap was designed and applied to repair the ir-regular soft tissue defect of shank.The lobulated latissimus dorsi flap with the outer branch of the thoracodorsal artery ranged from 14.0 cm×7.0 cm to 24.0 cm×8.5 cm.The lobulated latissimus dorsi flap with the inner branch of the tho-racodorsal artery ranged from 10.0 cm×5.0 cm to 15.0 cm×7.0 cm. When cutting the flap, the branch vessels should be protected to insure the continuity of the thoracodorsal artery. After spliced the 2 lobulated flaps, the thoracodorsal arteriovenous was anastomosed with the recipient region arteriovenous. All the donor sites were sutured directly. All patients were followed-up by outpatient and telephone regularly. Results Seven flaps survived well.Only 1 case of partial necrosis appeared at the distal edge of the lobulated flap and healed after wound care. All patients were fol-lowed-up from 3 to 30 months, averaged of 14 months. The texture of flap was flexible and the appearance was well. Only a linear scar was left in the donor site. The shoulder joint retained good mobility. Conclusion The lobulated latissimus dorsi flap has rich blood supply, concealed donor area and high survival rate after transplantation, which can flexibly repair the irregular soft tissue defect of the shank, and effectively prettify the appearance of the recipient area. This strategy has little effect on the appearance and function of the donor area, and worthy of promoting in clinic.
8.Exploration and innovation of training management mode for stomatology digital technology national engineering laboratory
Yijiao ZHAO ; Xinyue ZHANG ; Hu CHEN ; Huifang YANG ; Jianjiang ZHAO ; Yong WANG
Chinese Journal of Medical Science Research Management 2018;31(5):395-399
Objective This paper aimed at the management needs of the digital technique research-type laboratory of stomatology to explore a "three-stage training management" mode under the concept of "Standard Operating Procedures" (SOP) to improve the traditional training model for laboratory.Methods Experimental technology training management is an important step to insure the safely running of college research-type laboratory.Digital oral medical experimental technique is a kind of new technique developed in recent years,it is one of the important technical means of oral medical research today.In this paper,we based on the scientific research service demand of digital technique research-type laboratory in oral medical colleges explored and established a kind of three-stage training management mode under the concept of "Standard Operating Procedures".This training management mode included network self-study training,laboratory practical training and regular self-study training.Results The SOP training management model has achieved a good preliminary application effect in Peking University School and Hospital of Stomatology.Conclusions The training management model established in this study could improve the traditional training model and provide a theoretical support and experience for the domestic oral medical colleges.
9.Research advances in noninvasive assessment of portal hypertension
Hao ZHOU ; Jianjiang YANG ; Shanhong TANG
Journal of Clinical Hepatology 2018;34(8):1783-1787
Patients with decompensated cirrhosis often have varying degrees of portal hypertension, and when portal pressure reaches a certain threshold, various clinical complications may occur and even threaten patients′ lives. Therefore, portal pressure assessment is important for the clinical management and prognosis of such patients. Due to the anatomical characteristics of the portal vein, it is difficult to measure portal pressure directly. At present, hepatic venous pressure gradient is used to replace portal pressure in China and foreign countries. However, the measurement of hepatic venous pressure gradient is an interventional procedure and is difficult to perform in clinical practice. Therefore, noninvasive assessment of portal hypertension has become a research hotspot. This article reviews the research advances in the roles of serum markers, ultrasound elastography, computed tomography, and magnetic resonance imaging/magnetic resonance elastography in noninvasive assessment of portal hypertension.
10. Screening for hotspot mutations associated with genetic hearing impairment in pregnant women and subsequent prenatal diagnosis in high risk pregnancies
Kai YANG ; Hong QI ; Shasha HUANG ; Xiaohui WEN ; Jianjiang ZHU ; Lirong CAI ; Wen ZENG ; Guodong TANG ; Yao LUO ; Dongyang KANG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2018;53(9):645-649
Objective:
To screen for hotspot gene mutations associated with genetic deafness in Chinese pregnant women, and to perform risk assessment and prenatal diagnosis in high-risk families.
Methods:
Between November 2012 and October 2017, 26 117 pregnant women were screened by molecular hybridization microarray for 9 hot-spot mutations in 4 hereditary deafness related genes (

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