1.Genetic analysis and PGT-SR outcome of a male carrier of exceptional complex chromosome rearrangement
Dun LIU ; Yun-Qiao DONG ; Chuang-Qi CHEN ; Xing-Su YU ; Jin YAN ; Feng-Hua LIU ; Xi-Qian ZHANG
National Journal of Andrology 2024;30(7):627-633
Objective:To investigate the clinical and genetic characteristics of a male carrier of exceptional complex chromo-some rearrangement(CCR)and the outcome of preimplantation genetic testing for chromosomal structural rearrangement(PGT-SR).Methods:Using the modified high resolution G banding technique and whole-genome low-coverage sequencing(WGLCS),we analyzed the cellular karyotype and molecular karyotype of a male carrier of CCR,performed an analysis of the single-sperm chromosome copy number and conducted PGT-SR for the patient by next-generation sequencing(NGS).In addition,we reviewed the literature on repor-ted male carriers of CCRs and summarized their normal/balanced sperm ratios and PGT-SR outcomes.Results:The karyotype of the patient was 46,XY,der(5)inv(5)(q14.3q23.2)t(5;14;11)(q23.2;q31.1;q21),der(11)t(5;14;11);der(14)t(5;14;11),with the translocation breakpoints located in the intergenic region.Single-sperm sequencing revealed 20.0%(7/35)of normal haploids in the male's spermatozoa,and the results PGT-SR showed a proportion of 25.0%(4/16)of normal/balanced embryos.After thawing and transferring of 2 euploid blastocysts,a healthy male infant was successfully delivered.Conclusion:The proportion of normal hap-loids in the spermatozoa of male CCR carriers may be higher than theoretically predicted,and PGT-SR can effectively improve the preg-nancy outcome in male CCR carriers and provide valuable data for genetic counseling.
2.Impact of different diagnostic criteria for assessing mild micro-hepatic encephalopathy in liver cirrhosis: an analysis based on a prospective, multicenter, real-world study
Xiaoyan LI ; Shanghao LIU ; Chuan LIU ; Hongmei ZU ; Xiaoqing GUO ; Huiling XIANG ; Yan HUANG ; Zhaolan YAN ; Yajing LI ; Jia SUN ; Ruixin SONG ; Junqing YAN ; Qing YE ; Fei LIU ; Lei HUANG ; Fanping MENG ; Xiaoning ZHANG ; Shaoqi YANG ; Shengjuan HU ; Jigang RUAN ; Yiling LI ; Ningning WANG ; Huipeng CUI ; Yanmeng WANG ; Chuang LEI ; Qinghai WANG ; Hongling TIAN ; Zhangshu QU ; Min YUAN ; Ruichun SHI ; Xiaoting YANG ; Dan JIN ; Dan SU ; Yijun LIU ; Ying CHEN ; Yuxiang XIA ; Yongzhong LI ; Qiaohua YANG ; Huai LI ; Xuelan ZHAO ; Zemin TIAN ; Hongji YU ; Xiaojuan ZHANG ; Chenxi WU ; Zhijian WU ; Shengqiang LI ; Qian SHEN ; Xuemei LIU ; Jianping HU ; Manqun WU ; Tong DANG ; Jing WANG ; Xianmei MENG ; Haiying WANG ; Zhenyu JIANG ; Yayuan LIU ; Ying LIU ; Suxuan QU ; Hong TAO ; Dongmei YAN ; Jun LIU ; Wei FU ; Jie YU ; Fusheng WANG ; Xiaolong QI ; Junliang FU
Chinese Journal of Hepatology 2023;31(9):961-968
Objective:To compare the differences in the prevalence of mild micro-hepatic encephalopathy (MHE) among patients with cirrhosis by using the psychometric hepatic encephalopathy score (PHES) and the Stroop smartphone application (Encephal App) test.Methods:This prospective, multi-center, real-world study was initiated by the National Clinical Medical Research Center for Infectious Diseases and the Portal Hypertension Alliance and registered with International ClinicalTrials.gov (NCT05140837). 354 cases of cirrhosis were enrolled in 19 hospitals across the country. PHES (including digital connection tests A and B, digital symbol tests, trajectory drawing tests, and serial management tests) and the Stroop test were conducted in all of them. PHES was differentiated using standard diagnostic criteria established by the two studies in China and South Korea. The Stroop test was evaluated based on the criteria of the research and development team. The impact of different diagnostic standards or methods on the incidence of MHE in patients with cirrhosis was analyzed. Data between groups were differentiated using the t-test, Mann-Whitney U test, and χ2 test. A kappa test was used to compare the consistency between groups. Results:After PHES, the prevalence of MHE among 354 cases of cirrhosis was 78.53% and 15.25%, respectively, based on Chinese research standards and Korean research normal value standards. However, the prevalence of MHE was 56.78% based on the Stroop test, and the differences in pairwise comparisons among the three groups were statistically significant (kappa = -0.064, P < 0.001). Stratified analysis revealed that the MHE prevalence in three groups of patients with Child-Pugh classes A, B, and C was 74.14%, 83.33%, and 88.24%, respectively, according to the normal value standards of Chinese researchers, while the MHE prevalence rates in three groups of patients with Child-Pugh classes A, B, and C were 8.29%, 23.53%, and 38.24%, respectively, according to the normal value standards of Korean researchers. Furthermore, the prevalence rates of MHE in the three groups of patients with Child-Pugh grades A, B, and C were 52.68%, 58.82%, and 73.53%, respectively, according to the Stroop test standard. However, among the results of each diagnostic standard, the prevalence of MHE showed an increasing trend with an increasing Child-Pugh grade. Further comparison demonstrated that the scores obtained by the number connection test A and the number symbol test were consistent according to the normal value standards of the two studies in China and South Korea ( Z = -0.982, -1.702; P = 0.326, 0.089), while the other three sub-tests had significant differences ( P < 0.001). Conclusion:The prevalence rate of MHE in the cirrhotic population is high, but the prevalence of MHE obtained by using different diagnostic criteria or methods varies greatly. Therefore, in line with the current changes in demographics and disease spectrum, it is necessary to enroll a larger sample size of a healthy population as a control. Moreover, the establishment of more reliable diagnostic scoring criteria will serve as a basis for obtaining accurate MHE incidence and formulating diagnosis and treatment strategies in cirrhotic populations.
3.Application of magnetic resonance neurography in the treatment of pelvic fracture with lumbosacral plexus injury
Lin LI ; Qi WANG ; Zhen YU ; Chuang ZHAO ; Jinlei DONG ; Dawei WANG ; Dongsheng ZHOU
Chinese Journal of Orthopaedics 2021;41(15):1018-1024
Objective:To investigate the application value of magnetic resonance neurography (MRN) in pelvic fractures with lumbosacral plexus injury.Methods:From January 2014 to June 2020, data of 9 patients with pelvic fractures combined with lumbosacral plexus injury who were diagnosed with MRN and were performed surgical treatment were analyzed retrospectively. Among them, there were 8 males and 1 female, aged from 18 to 54 years, with an average age of 40.6±11.0 years. There were 2 fresh fractures within 3 weeks and 7 old pelvic fractures in 9 patients. According to AO classification, there were 6 cases of C1.3 type, 3 cases of C3 type. According to Denis classification of sacral fracture, there were 8 cases of Denis II type, 1 case of Denis III. Gibbons classification of nerve injury: 2 cases of grade II, 4 cases of grade III, 3 cases of grade IV; According to the criteria by the Nervous Injury Committee of British Medical Research Council (BMRC): 2 cases of M1, 3 cases of M2, 2 cases of M3, 2 cases of M4. Before the operation, the MRN technology was used to accurately locate the location and extent of the lumbosacral nerve injury, and nerve exploration release or internal fixation combined with nerve exploration release was employed for treatment.Results:All 9 patients underwent surgery successfully. The operation time ranged from 150 to 360 min, with an average of 217.8±63.8 min; intraoperative blood loss ranged from 200 to 1 100 ml, with an average of 388.9±293.4 ml. All patients were followed up for 21.6±19.3 months. All the fractures were healed, and the healing time was 12.7±2.2 months (range, 10-18 months). At the last follow-up, Gibbons classification of nerve injury: 3 cases of grade I, 5 cases of grade II, and 1 case of grade III. According to the criteria of BMRC: the muscle strength achieved M5 in 6 cases, M4 in 2 cases, M3 in 1 case. One patient developed a urinary system infection 2 months after discharge and recovered after treatment.Conclusion:MRN technique can assist the surgeon to fully understand the compression and traction damage of the lumbosacral nerve by the fracture before the operation, and make clear qualitative and localized diagnosis of the nerve damage, making the operation more precise and minimally invasive, which is a supplement to the traditional diagnosis method of lumbosacral plexus injury.
4.Clinical treatment of pelvic fracture complicated with anterior sacroiliac joint dislocation
Zhen YU ; Qi WANG ; Lin LI ; Chuang ZHAO ; Dawei WANG ; Jinlei DONG ; Dongsheng ZHOU
Chinese Journal of Orthopaedics 2021;41(15):1066-1072
Objective:To explore the clinical diagnosis and treatment experience of pelvic fracture complicated with anterior sacroiliac joint dislocation.Methods:The data of 19 patients with pelvic fracture and anterior sacroiliac joint dislocation admitted from June 2013 to September 2019 were retrospectively analyzed. There were 12 males and 7 females; aged 9-67 years, with an average of 28.0 years. There were 11 cases of traffic accident injury, 6 of falling injury and 2 of crashing injury caused by machine extrusion. According to the Tile classification, there were 8 cases of type C1, 2 of type C2, and 9 of type C3; 6 cases of modified mangled extremity severity score (MESS) were greater than or equal to 7, of which 2 cases underwent hip amputation, 4 cases underwent king-steelquis semipelvectomy. 13 cases underwent limb-salvage surgery, of which 3 cases underwent external fixation surgery, and the remaining 10 cases underwent open reduction and internal fixation with steel plate. The reduction quality was evaluated according to the Matta imaging criteria of pelvis, the pain was evaluated according to the visual analogue scale (VAS), and the pelvic function was evaluated according to the Majeed score.Results:The operation time was 2 to 4 hours, with an average of 3.2 hours; the intraoperative blood loss was 400 to 1 200 ml, with an average of 768.4 ml. The 18 surviving patients were followed up for 6 to 24 months, with an average of 11.6 months. One of the 6 amputation patients died one week after the operation due to septic shock and multiple organ failure. The overall survival rate of the patients was 94.7% (18/19), and the amputation rate was 31.6% (6/19). The pelvic fractures of the 18 surviving patients were all healed, and the fracture healing time was 3 to 6 months, with an average of 4.2 months. No delayed union or nonunion occurred. At the last follow-up of the 18 surviving patients, the VAS was 2.4±1.9 points (range, 0-6 points). Among them, there were no pain in 3 cases, mild pain in 9 cases and moderate pain in 6 cases. At the last follow-up, 13 patients undergoing limb salvage treatment evaluated the quality of reduction according to Matta imaging criteria. Among them, 6 cases were excellent, 4 were good, 2 were fair, and 1 was poor. The excellent and good rate was 76.9% (10/13). The Majeed functional score was 81.8±11.9 points (range, 53-95 points). Among them, 6 cases were excellent, 5 were good, 1 was fair, and 1 was poor. The excellent and good rate was 84.6% (11/13). In the limb salvage treatment group, 4 patients with lumbosacral nerve injury caused limited hip joint movement function, and unilateral lower limb sensation and movement were weakened. After neurolysis and nutritional support treatment, the patient's sensorimotor function was significantly improved.Conclusion:The mortality and disability rate of pelvic fractures combined with anterior sacroiliac joint dislocation is high. In order to save the patient's life, early diagnosis of limb injury and early surgical intervention should be performed. If necessary, hip disarticulation or king-steelquis should be selected.
5.Expression and clinical significance of P-selectin and HPA in benign and malignant hydatidform mole tissues
Jie-Min QI ; Shu-Li YU ; Xing-Wu BAI ; Chuang WANG
Chinese Journal of Clinical and Experimental Pathology 2019;35(3):273-277
Purpose To investigate the expression characteristics and significance of P-selectin and HPA in benign and malignant hydatidform mole tissues. Methods By using immunohistochemical technique SP and RT-PCR, the expression of Pselectin and HPA was detected in 40 cases of benign hydatidiform mole tissues, and 12 malignant hydatidiform mole tissues.Meanwhile, 40 cases of normal placental villi tissues were observed. Results The protein positive rate and protein relative quantity expression and the mRNA relative quantity expression of P-selectin and HPA were gradually increasing in normal placenta villi tissues, benign hydatidiform mole tissues, and malignant hydatidiform mole tissues. The differences between groups were statistically significant (all P<0.05). The expression of P-selectin and HPA showed positive correlation (all P<0.05) in benign and malignant hydatidform mole tissues. Conclusion The over-expression of P-selectin and HPA promotes the occurrence and development of hydatidform mole. The detection of the expression levels of P-selectin and HPA is of great significance for the differential diagnosis and prognosis assessment of benign and malignant hydatidform mole. It could become a biological predictor of malignant development of hydatidform mole.
6.Effects of electroacupuncture of different frequencies on free radicals in hippocampus of mice with vascular dementia
Ze-Hui WU ; Xiao-Kang XU ; Yu-Lei LIANG ; Chuang ZHANG ; Xiao-Qi ZHANG ; Xin ZHANG ; Xuan-Ping ZHANG ; Hui-Zhen ZHANG ; Fei GUO ; Yan-Ping YANG
Journal of Acupuncture and Tuina Science 2018;16(5):297-302
Objective:To observe the effects of electroacupuncture (EA) of three different frequencies (2 Hz,80 Hz and 2 Hz/80 Hz) on the free radicals in hippocampus of vascular dementia (VD) model mice.Methods:A total of 100 Kunming mice were randomly divided into a sham operation group,a model group,a 2 Hz EA group,an 80 Hz EA group and a 2 Hz/80 Hz EA group,with 20 mice in each group.The ischemia-reperfusion VD model was established by repeated blockade of bilateral common carotid arteries.Mice in EA groups began EA treatment on the 4th day after the operation.Baihui (GV 20),Dazhui (GV 14),Geshu (BL 17) and Zusanli (ST 36) were punctured and then connected to EA instrument,with different waves of 2 Hz,80 Hz or 2 Hz/80 Hz (10 min/time) applied accordingly,once a day.During the jumping stand experiment,the learning performance,memory performance and hippocampal calcitonin gene-related peptide (CGRP),nitric oxide synthase (NOS),malondialdehyde (MDA),changes in superoxide dismutase (SOD) and true choline esterase (TChE) were observed.In hippocampus,the CGRP level was determined by radioimmunoassay;the MDA level was determined by thiobarbituric acid colorimetric method;the activities of NOS and TChE were determined by spectrophotometry;the activity of SOD was determined by xanthine oxidase method.Results:Compared with the sham operation group,the performances of learning and memory decreased significantly in the model group (P<0.01);in hippocampus,the CGRP level decreased,the MDA level increased,the activities of NOS and TChE increased,and the activity of SOD decreased in the model group.Compared with the model group,the learning and memory performances of the EA groups were significantly improved (P<0.05 or P<0.01);in hippocampus,the CGRP level increased,the MDA level decreased,the NOS and TChE activities decreased,and the SOD activity increased (P<0.05 or P<0.01).Among EA groups,the 2 Hz/80 Hz EA group was superior to the 2 Hz EA group and the 80 Hz EA group (P<0.05 or P<0.01).Conclusion:EA can improve the cognitive impairment of mice with ischemia-reperfusion VD.The mechanism may be related to the improvement of cerebral blood circulation,regulation of the central neurotransmitters,fighting lipid peroxidation and promoting nerve cell repair.The therapeutic effects of EA with different frequencies were different,and the intervention effect by EA at 2 Hz/80Hz is the most significant.
7.Gene expression profile of continuous mechanical stress-induced osteoblastic differentiation of rat bone marrow stromal cells
Peng ZHANG ; Bing FANG ; Chuang-qi YU ; Qing-gang DAI ; Yu-qiong WU ; Xiao YANG ; Ling-yong JIANG
Journal of Medical Biomechanics 2014;29(1):E014-E019
Objective To evaluate differences in genes expression of rat bone marrow stromal cells (rBMSCs) under continuous mechanical strain by gene microarray technology.Methods rBMSCs were isolated and cultured in vitro. Continuous stresses with amplitude of 10% and frequency of 1 Hz were applied on rBMSCs for 6 hours by Flexercell mechanical loading system to investigate rBMSC gene expression profiles, and quantitative PCR was used to verify gene expression changes related to osteoblastic differentiation. Results Compared with the control group, 1 244 differentially expressed genes were found in mechanical loading group, among which 793 genes were up-regulated, while 451 genes were down-regulated.GO (gene ontology) analysis suggested that differentially expressed genes were mainly involved in multicellular organismal development, cell differentiation, chemotaxis, cell adhesion and so on. Four signaling pathways as Notch, Wnt, FGF and IGF might participate in the regulation of stress-induced osteoblastic differentiation. PCR validation results were consistent with the gene chip results. Conclusions Mechanical stress could induce osteoblastic differentiation of the BMSCs, while several differentially expressed genes screened by gene microarray may attribute to this process.
8.Impact of clinicopathological features and extent of lymph node dissection on the prognosis in early gastric cancer patients.
Hui WU ; Liang WANG ; Yu-long HE ; Jian-bo XU ; Shi-rong CAI ; Jin-ping MA ; Chuang-qi CHEN ; Xin-hua ZHANG ; Wen-hua ZHAN
Chinese Journal of Oncology 2013;35(7):509-513
OBJECTIVETo explore the impact of clinicopathological features and extent of lymph node dissection on the prognosis in early gastric cancer (EGC) patients.
METHODSA total of 142 EGC cases screened from database of gastric cancer of Sun Yat-sen University, from Aug. 1994 to Jan. 2010, were included in this study. According to the lymph node metastasis status, they were divided into lymph node negative (n = 116) and lymph node positive (n = 26) groups. The clinicopathological features of the two groups and the impact of extent of lymph node dissection on the prognosis were analyzed.
RESULTSThere were no significant differences in age, gender, tumor size and location, Borrmann typing, WHO TNM staging, histological typing, and CEA value between the two groups (P > 0.05). The TNM stages in the lymph node positive group were higher than that in the lymph node negative group (P < 0.001). Between the cases who underwent D1 (n = 21) and D2 (n = 121) dissection, there were no significant differences in postoperative hospital days, blood transfusion volume, and operation time (P > 0.05). The median numbers of LN dissected in D1 and D2 cases were 4 (0 to 16) and 20 (12 to 30), with a significant difference (P = 0.000), but the number of positive LN without significant difference (P = 0.502). The postoperative complication rates were 9.5% in the D1 and 3.3% in the D2 dissection groups, without a significant difference (P = 0.128). The median survival time of the lymph node negative and positive groups was 156 vs. 96 months (P = 0.010). In cases who received D2 and D1 lymph node dissection, the median survival time (MST) was 156 vs. 96 months (P = 0.0022). In the lymph node positive group, D2 dissection prolonged survival time significantly than D1 dissection (96 vs. 27months) (P = 0.001). Cox regression analysis showed that the extent of lymph node dissection and LN metastasis were independent prognostic factors for EGC patients.
CONCLUSIONSIt is not able to accurately assess the LN metastasis status preoperatively according to the routine clinicopathological features. For the patients with unknown LN metastasis status, D2 dissection should be the first choice. Comparing with D1 dissection, the morbidity of D2 dissection are not increased, but survival time is prolonged.
Adenocarcinoma ; drug therapy ; pathology ; surgery ; Adenocarcinoma, Mucinous ; drug therapy ; pathology ; surgery ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Signet Ring Cell ; drug therapy ; pathology ; surgery ; Chemotherapy, Adjuvant ; Female ; Fluorouracil ; administration & dosage ; Follow-Up Studies ; Gastrectomy ; methods ; Humans ; Leucovorin ; administration & dosage ; Lymph Node Excision ; methods ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Staging ; Proportional Hazards Models ; Retrospective Studies ; Stomach Neoplasms ; drug therapy ; pathology ; surgery ; Survival Rate
9.Clinicopathological features and prognosis of young patients with gastric cancer.
Jian-bo XU ; Yu-long HE ; Hui WU ; Xin-hua ZHANG ; Jin-ping MA ; Jian-jun PENG ; Chuang-qi CHEN ; Shi-rong CAI ; Wen-hua ZHAN
Chinese Journal of Gastrointestinal Surgery 2013;16(2):160-162
OBJECTIVETo summarize the clinicopathological characteristics and analyze the prognostic factors of young patients with gastric cancer.
METHODSA total of 99 patients with the age less than or equal to 40 were admitted in The First Affiliated Hospital of Sun Yat-sen University from August 2001 to December 2009. Their clinicopathological and follow-up data were compared with middle-aged and elderly patients with the age more than 40.
RESULTSThere were statistically significant differences in gender, tumor location, Borrmann type, histological type, differentiated histology, depth of invasion, peritoneal metastasis between young patients and elder ones. The 5-year survival rates of young and elder patients were 49.1% and 44.4% respectively, and the difference was not statistically significant (P>0.05). Univariate and multivariate analyses showed that TNM stage (P=0.014) and surgical methods (P=0.012) were independent predictive factors of survival for young patients. For the young patients, the 5-year survival rate was 56.7% after curative resection, 11.1% after palliative resection. Those who underwent palliative surgery or biopsy alone died within 1 year after surgery. The difference between difference surgical procedures in survival were statistically significant (P<0.05).
CONCLUSIONSAs compared to elder patients, young patients with gastric cancer have special clinicopathological features. However, no significant difference of survival rate is found between the young and the elder patients. TNM stage and surgical methods are independent prognostic factors of young patients with gastric cancer. Radical resection appears to confer the only chance of prolonged survival.
Adult ; Age Factors ; Female ; Follow-Up Studies ; Gastrectomy ; methods ; Humans ; Male ; Neoplasm Staging ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; epidemiology ; pathology ; surgery ; Survival Rate
10.Meta-analysis of pancreaticoduodenectomy prospective controlled trials: pancreaticogastrostomy versus pancreaticojejunostomy reconstruction.
Jin-Ping MA ; Lin PENG ; Tao QIN ; Jian-Wei LIN ; Chuang-Qi CHEN ; Shi-Rong CAI ; Liang WANG ; Yu-Long HE
Chinese Medical Journal 2012;125(21):3891-3897
BACKGROUNDPancreaticogastrostomy (PG) has been proposed as an alternative to pancreaticojejunostomy (PJ), assuming that postoperative complications are less frequent. The aim of this research was to compare the safety of PG with PJ reconstruction after pancreaticoduodenectomy.
METHODSArticles of prospective controlled trials published until the end of December 2010 comparing PJ and PG after PD were searched by means of MEDLINE, EMBASE, Cochrane Controlled Trials Register databases, and Chinese Biomedical Database. After quality assessment of all included prospective controlled trials, meta-analysis was performed with Review Manager 5.0 for statistic analysis.
RESULTSOverall, six articles of prospective controlled trials were included. Of the 866 patients analyzed, 440 received PG and 426 were treated by PJ. Meta-analysis of six prospective controlled trials (including RCT and non-randomized prospective trial) revealed significant difference between PJ and PG regarding postoperative complication rates (OR, 0.53; 95%CI, 0.30 - 0.95; P = 0.03), pancreatic fistula (OR, 0.47; 95%CI, 0.22 - 0.97; P = 0.04), and intra-abdominal fluid collection (OR, 0.42; 95%CI, 0.25 - 0.72; P = 0.001). The difference in mortality was of no significance. Meta-analysis of four randomized controlled trials (RCT) revealed significant difference between PJ and PG regarding intra-abdominal fluid collection (OR, 0.46; 95% CI, 0.26 - 0.79; P = 0.005). The differences in pancreatic fistula, postoperative complications, delayed gastric emptying, and mortality were of no significance.
CONCLUSIONSMeta-analysis of six prospective controlled trials (including randomized controlled trials (RCT) and non-randomized prospective trial) revealed significant difference between PJ and PG regarding overall postoperative complications, pancreatic fistula, and intra-abdominal fluid collection. Meta-analysis of four RCT revealed significant difference between PJ and PG with regard to intra-abdominal fluid collection. The results suggest that PG may be as safe as PJ.
Female ; Gastric Emptying ; Gastrostomy ; adverse effects ; mortality ; Humans ; Male ; Middle Aged ; Pancreaticoduodenectomy ; adverse effects ; mortality ; Pancreaticojejunostomy ; adverse effects ; mortality ; Prospective Studies ; Randomized Controlled Trials as Topic

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