Objective:To observe the effects of acupuncture on the expression of circRNA_011989 and circRNA_009775 in the hippocampal tissue of cerebral ischemia/reperfusion injury(CIRI)rats.Methods:CIRI model rats were prepared by the thread bolus method and treated by means of acupuncture(AC).The Garcia score was used to assess the neurological function.TTC staining was used to detect the volume ratio of cerebral infarction.The target prediction website was used to predict the miRNAs and corresponding mRNAs bound by circRNA_011989 and circRNA_009775,and Cytoscape was used to construct the circRNA-miRNA-mRNA co-expression network.The expression of circRNA_011989,circRNA_009775,miR-466b-5p,miR-3065-3p,Rims1,and Slc30a3 in the hippocampal region of the ische-mic side was detected by real time RT-PCR.Results:Compared with CIRI group,Garcia score of rats in CIRI+AC group was significantly increased(P＜0.01),and the infarct volume decreased.The expressions of circRNA_011989,circRNA_009775,Rims1,and Slc30a3 in right hippocampus were up-regulated(P＜0.05,P＜0.01),but the miR-466b-5p and miR-3065-3p were down-regulated(P＜0.05).Conclusion:Acupuncture may significantly ameliorate the neurological deficit symptoms in CIRI rats by upregulating the expression of circRNA_011989 and circRNA_009775,and the specific mechanism may be related to the activation of circRNA_011989/miR-466b-5p/Rim.s1 and circRNA_009775/miR-3065-3p/Slc30a3 axis related.

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands. METHODS: All affected individuals in this pedigrees were male and had deceased during childhood, with no biological specimen left. Based on their typical neurological dysfunction and tendency for self-mutilation, the diagnosis of LNS was suspected. Sanger sequencing was carried out to detect potential variant of the HPRT1 gene among female members from the pedigree. Following the identification of the pathogenic variant, prenatal diagnosis was provided for a high-risk fetus. RESULTS: The proband's mother and three other females were found to harbor heterozygous c.500_501delGGinsC (p.Arg167fs*23) variant of the HPRT1 gene, which was unreported previously. Prenatal diagnosis showed that the fetus was a male and had inherited the same pathogenic variant. CONCLUSION The c.500_501delGGinsC variant of the HPRT1 gene probably underlay the LNS in this pedigree. Above finding has provided a basis for prenatal diagnosis and genetic counseling for this pedigree.
Male ; Female ; Humans ; Pregnancy ; Lesch-Nyhan Syndrome/genetics* ; Pedigree ; Hypoxanthine Phosphoribosyltransferase/genetics* ; Prenatal Diagnosis ; China ; Mutation

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL). METHODS: Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree. RESULTS: The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree. CONCLUSION The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
Age of Onset ; China ; Hearing Loss, Sensorineural/genetics* ; Humans ; Male ; Mutation ; Pedigree ; Receptors, Estrogen/genetics*

Objective:To assess the clinical value of quantitative fluorescent polymerase chain reaction(QF-PCR) in rapid prenatal diagnosis.Methods:From May 2018 to May 2019, 1 190 amniotic fluid samples were detected by QF-PCR to check out aneuploidies of 13, 18, 21, X and Y, then the results were compared with those of traditional karyotype analysis.Results:The 33 abnormities including 20 cases with trisomy 21, 4 cases with trisomy 18 and 9 abnormities of sex chromosomes were checked out in 1190 amniotic fluid samples by rapid diagnosis.Conclusion:As a common rapid diagnostic method, QF-PCR has advantages of rapid and accurate, but still cannot completely replace the conventional karyotype analysis.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM). METHODS: Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs). RESULTS: A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene. CONCLUSION The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
Asian Continental Ancestry Group ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Pedigree

Objective To investigate the related factors and prognosis of pulmonary hypertension (PAH) in hemodialysis (HD) patients for early diagnosis and intervention of PAH.Methods A retrospective cohort study was conducted in 183 long-term hemodialysis patients with complete follow-up data from January 1,2010 to December 30,2015 from the blood purification center of the Third Affiliated Hospital of Sun Yat-sen University.The follow-up deadline was December 30,2017,and the endpoints were death and cardiovascular events.The clinical data,laboratory examinations,cardiac color Doppler ultrasound parameters and prognosis of patients with and without PAH were compared.Multivariate logistic regression was used to analyze the risk factors for PAH in HD patients.The survival rates were calculated by Kaplan-Meier method,and the survival curves were compared by Log-rank test between the two groups.A multivariate Cox proportional hazard regression model was used to examine the association between PAH and all-cause mortality in HD patients.Results Of the 183 hemodialysis patients,79(43.2％) were female,104(56.8％) were male,and the age was (56.1±16.9) years,of which 72(39.3％) were complicated with PAH.Compared with the non-PAH group,patients in the PAH group was older and had a longer duration of dialysis (both P ＜ 0.05).The left atrial diameter (P=0.002) and the proportion of valvular calcification (P=0.004) were significantly higher in the PAH group than that in the non-PAH group.Logistic regression analysis showed increased age (OR=1.027,95％ CI 1.001-1.053,P=0.041) and increased duration of dialysis (OR=1.129,95％ CI 1.004-1.269,P=0.042) were risk factors for PAH in HD patients.After a median follow-up of 27.8 months,Kaplan-Meier survival analysis showed that all-cause mortality was higher in the PAH group than that in the non-PAH group ~x2=5.636,P=0.018).The main cause of death in two groups was cardiovascular event.Afteradjusting for age,diabetes mellitus,duration of dialysis,valvular calcification,and hypertension,Cox regression showed that PAH increased the risk of all-cause mortality in HD patients (HR=1.894,95％ CI 1.083-3.313,P=0.025).Conclusions HD patients complicated with PAH are more common and the prognosis is poor.Increased age and increased duration of dialysis may be risk factors for PAH in HD patients.Regular color Doppler echocardiography is helpful for early detection and diagnosis of PAH.

Objective: To analyze the relationship between serum uric acid (SUA) level and clinical indicators in maintenance hemodialysis (MHD) patients, and explore its influence on all-cause mortality and cardiovascular mortality. Methods: This study was a retrospective cohort study. Patients who received MHD from the blood purification center of the Third Affiliated Hospital of Sun Yat-sen University from January 1, 2011 to December 30, 2015 were enrolled in the queue. They were divided into 3 groups according to the first and third quantile of the SUA level quartiles, and the baseline data of clinical and laboratory examinations were compared. The correlation between SUA level and clinical indicators was analyzed by Pearson correlation coefficient. Kaplan-Meier method and Cox proportional hazard regression model were used to examine the association between SUA and all-cause mortality and cardiovascular mortality in MHD patients. Results: A total of 201 patients were enrolled in the study. The age of the patients was (56.9±16.7) years and the baseline SUA level was (531.1±137.9) μmol/L. Patients were divided into 3 groups with the first quantile (442 μmol/L) and the third quantile (620 μmol/L) of the SUA quartiles as the boundary points: group 1 (SUA<442 μmol/L, n=52), group 2 (SUA 442-620 μmol/L, n=101) and group 3 (SUA>620 μmol/L, n=48). The results showed that the patients in group 1 were older and had more proportion of patients with diabetes mellitus and cardiovascular diseases than those in group 3 (all P<0.05). Compared to group 3, the serum albumin, serum phosphorus and serum creatinine were lower in group 1, while the hypersensitive C-reactive protein was higher (all P<0.05). Pearson correlation analysis showed that SUA level was positively correlated with albumin (r=0.135, P=0.047), blood phosphorus (r=0.269, P<0.001) and serum creatinine (r=0.333, P<0.001), and negatively correlated with hypersensitive C-reactive protein (r=-0.216, P=0.002). After a median follow-up of 49.8 months, 66(32.8%) all-cause deaths and 32(15.9%) cardiovascular deaths were recorded. Kaplan-Meier method showed that with the decrease of SUA, all-cause mortality (Log-rank χ²=18.27, P<0.001) and cardiovascular mortality (Log-rank χ²=15.04, P=0.001) increased. After adjusting for age, gender, comorbidity and other factors using the Cox proportional hazards model, the all-cause mortality and cardiovascular mortality decreased by 20.1% (HR=0.799, 95% CI 0.651-0.980, P=0.031) and 29.6% (HR=0.704, 95% CI 0.524-0.946, P=0.020) for each 100 μmol/L increase in baseline SUA. Compared to group 1, all-cause mortality (HR=0.332, 95%CI 0.142-0.774, P=0.011) and cardiovascular mortality (HR=0.140, 95%CI 0.030-0.657, P=0.013) were lower in the group 3. Conclusion Low SUA level increases the risk of all-cause mortality and cardiovascular mortality in MHD patients.

Objective To summarize the experience in diagnosis and treatment of donor bile leakage after living donor liver transplantation. Methods Clinical data of 95 donors underwent living donor liver transplantation were retrospectively analyzed.Postoperative complications of bile leakage were observed,and clinical performance,treatment methods and therapeutic effects were analyzed. Results Bile leakage occurred in 9 donors of 95 donors with liver transplantation,and the incidence was 9%.The location of donor liver was left lateral lobe in 9 cases with bile leakage,all of which were delayed bile leakage of liver section.The clinical performance showed no typical bile peritonitis with increased serum bilirubin.All patients were cured after treatment of percutaneous puncture drainage or drainage tube retention,and there were no cases underwent second operation and death cases. Conclusions Changes in donor liver function and hepatic artery hemodynamics shall be monitored after living donor liver transplantation,and the donors with bile leakage shall be treated actively and will achieve favorable prognosis.

Objective: Through the hospital fixed assets management mode and method of transformation, to play the biggest economic benefit and use efficiency of fixed assets, better service for the hospital development. Methods: Through the bar code and PDA, realize the accurate inventory of fixed assets, improve the efficiency of inventory, and implement the whole bar code tracking and outbound, department transfers of assets in the whole process supervision. Results: It will use department, management department, finance department of equipment management work has focused on an information system platform. Conclusion:It can complete hospital various aspects of fixed assets management, truly achieve account, card, content is consistent.

Background and purpose:Along with the development of diagnosis and treatment technology, the disease free survival and overall survival of breast cancer have been extended. In order to improve the quality of life after mastectomy, more and more breast reconstructions were applied in breast cancer patients. We retrospectively reviewed 118 cases of free abdominal lfaps for breast reconstruction performed in Fudan University Shanghai Cancer Center. Clinical outcomes, reconstructive techniques and experiences are discussed. Methods:From November, 2006 to June, 2013, we used free abdominal lfaps to perform 118 cases of breast reconstruction on 117 female patients after mastectomy. We observed the surgery, complications and safety of this technic. Results:We performed 118 cases of lfaps based on deep inferior epigastric vessels. The average operation time was 7.72 h. The average time of ischemia was 78.74min. The average anastomosis time was 60.83min. The average number of perforators included in the lfap was 3. The internal thoracic vessels were preferred recipient vessels. Ten cases of vessel crisis occurred and 6 of them were venous thrombosis and 4 cases were venous kink. Seven of them were salvaged, and the other 3 failed, the success rate was 97.46%. Postoperative infection rate was 7.00%. Abdominal bulge occurred in 3.50%of patients. None of the patients developed abdominal hernia. The median interval between surgery and the ifrst cycle of adjuvant chemotherapy was 19 days. The median follow-up time was 12 months. One case of distant metastasis, but no local recurrence was observed. Conclusion: Although free abdominal flap breast reconstruction requires complicated microsurgical techniques, and the learning curve does exist, free abdominal lfap breast reconstruction has a high success rate with oncological safety and few complications.