Objective: To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD). Methods: The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient’s condition. Results: The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c. 960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c. 960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, β-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c. 467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software. Conclusion The patient’s condition may be attributed to the compound heterozygous c. 467G>A (p.Gly156Asp) and c. 960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.

Objective To evaluate the accuracy of target-controlled infusion (TCI) of sufentanil at low concentration.Methods Sixty patients with American Society of Anesthesiologists physical status Ⅰ or Ⅱ,aged 18-68 yr,scheduled for elective surgery under general anesthesia,were included in this study.Anesthesia was induced and maintained with sufentanil TCI combined with propofol TCI,and muscle relaxation was maintained by intermittent injection of rocuronium as needed.The patients were divided into 3 groups (n=20 each) using the sealed envelope method:0.08 ng/ml group (group Ⅰ),0.10 ng/ml group (group Ⅱ) and 0.12 ng/ml group (group Ⅲ).Arterial blood samples were collected in 10 patients randomly selected from each group for measurement of plasma sufentanil concentrations by liquid chromatography-mass spectrometry/mass spectrometry.The accuracy of sufentanil TCI was evaluated by calculating bias (median performance error),precision (median absolute performance error) and wobble.Results In Ⅰ,Ⅱ and Ⅲ groups,the bias of sufentanil TCI was-6.1％,-10.2％ and-5.0％,respectively,the precision was 19.4％,15.8％ and 14.2％,respectively,and the wobble was 20.9％,11.0％ and 10.8％,respectively.The pooled bias,precision and wobble were-7.1％,16.8％ and 13.5％ in Ⅰ,Ⅱ and Ⅲ groups,respectively.Conclusion The accuracy of sufentanil TCI at low concentration is considered acceptable in clinical anesthesia,and the measured plasma sufentanil concentration is approximately 7％ lower than the target plasma sufentanil concentration in surgical patients.

Objective To explore the characteristics of emotional memory in patients with earlystage Parkinson's disease (PD).Methods The methods of emotional memory neuro-cognitive test and event-related evoked potentials (ERPs) test were set.The emotional memory was detected in 30 early-stage PD patients without treatment (PD group) and 30 matched (including education level,etc) healthy controls (control group),who were recruited in the Department of Neurology,Anqing Municipal Hospital from June 2016 to June 2018.Results Compared with the control group (55.83％±4.17％),the negative valence picture recognition rate in the PD group (50.30％±4.04％) showed statistically significant difference (t=4.85,P＜0.05).The ERPs-P300 latency was (337.47 ± 7.87) ms,the amplitude was (6.34 ± 0.62) μV,and the reaction time was (3 729.21±226.85) ms in the control group,showing statistically significant difference (t=-3.30,4.04,2.76,P＜0.05) compared with that in the PD group ((344.20±7.94) ms,(5.75±0.52) μV,(3 935.33±222.24) ms,respectively).There was no statistically significant difference in positive and neutral stimuli recognition between the two groups (P＞0.05).In the PD group,the correct recognition in positive,neutral and negative valence pictures (57.97％ ±4.44％,49.77％ ±4.49％,50.30％ ±4.04％,respectively)showed statistically significant difference (F=39.17,P＜0.05),also seen in the reaction time ((3 725.87 ±210.10) ms,(4 085.80±231.67) ms and (3 935.33±222.24) ms,respectively;F=9.58,P＜0.05),P300 latency ((328.07±6,07) ms,(347.37±7.49) ms and (344.20±7.94) ms,respectively;F=60.32,P＜0.05),and amplitude ((6.55±0.66) μV,(5.57 ± 0.63) μV and (5.75 ± 0.52) μV,respectively;F=22.44,P＜0.05).But there was no statistically significant difference between negative and neutral stimuli recognition in the PD group (P＞0.05).In the control group,the correct recognition in positive,neutral and negative valence pictures (59.47％ ±4.61％,50.63％±4.96％,55.83％±4.17％,respectively) also showed statistically significant difference (F=25.85,P＜0.05),also seen in the reaction time ((3 657.13±218.85) ms,(4 026.81±221.23) ms and (3 729.21±226.85) ms,respectively;F=8.57,P＜0.05),P300 latency ((326.13±5.96) ms,(345.10±7.95) ms and (337.47±7.87) ms,respectively;F=51.04,P＜0.05),and amplitude ((6.69±0.68) μV,(5.59±0.67) μV and (6.34±0.62)μV,respectively;F=22.15,P＜0.05).There was no statistically significant difference in the rating of valence of emotional pictures between the PD and the control groups (P＞0.05).However,there was statistically significant difference in the latency and amplitude of P300 in the rating of negative valence of emotional pictures between the two groups (t=-5.63,4.16,P＜0.05).Conclusions The results suggest that there is emotional memory impairment in early stage of PD,which is mainly based on selective negative emotional valence.Testing the emotional memory of patients with PD is helpful for early identification and intervention.

Both immunosuppressants and antibiotics (ABX) are indispensable for transplant patients. However, the former increases the risk of new-onset diabetes, whereas the latter impacts intestinal microbiota (IM). It is still unclear whether and how the interaction between immunosuppressants and ABX alters the IM and thus leads to glucose metabolism disorders. This study examined the alterations of glucose and lipid metabolism and IM in mice exposed to tacrolimus (TAC) with or without ABX. We found that ABX further aggravated TAC-induced glucose tolerance and increased insulin secretion. Combined treatment resulted in exacerbated lipid accumulation in the liver. TAC-altered microbial community was further amplified by ABX administration, as characterized by reductions in phylum Firmicutes, family Lachnospiraceae, and genus Coprococcus. Analyses based on the metagenomic profiles revealed that ABX augmented the effect of TAC on microbial metabolic function mostly related to lipid metabolism. The altered components of gut microbiome and predicted microbial functional profiles showed significant correlation with hepatic lipid accumulation and glucose disorders. In conclusion, ABX aggravated the effect of TAC on the microbiome and its metabolic capacities, which might contribute to hepatic lipid accumulation and glucose disorders. These findings suggest that the ABX-altered microbiome can amplify the diabetogenic effect of TAC and could be a novel therapeutic target for patients.

Objective To investigate the clinical efficacy of adjustable external fixaor combined with limited internal fixation for type C distal radius fractures. Methods A total of 22 patients with type C distal radius fractures were treated with adjustable external fixator combined with limited internal fixation from October 2013 to January 2016. Accoiding to AO/ASIF classification, there were 6 cases defined as Cl, 7 cases as 02 and 9 cases as C3. All cases were followed up completely. The clinical efficacy was evaluated based on the wrist join function and X-ray materials. Results They were followed up from 6 month to 18 month(mean 11 months). It showed that all the fractures were healed within 3 months according to X-ray examination. According to Garland-werley evaluation standard, 15 cases were excellent, 5 cases were good and 2 cases were fair. The excellent and good rate was 90. 91％. Condusion For type C distal radius fractures, the method of adjustable external fìxaor combined with limited internal fixation can recover and maintain radius height, volar tilt angle and ulnar inclination angle effectively. It can provide satisfactory wrist join function.

Objective To evaluate the detection competence of HbA2 and HbF in Guangxi medical laboratories.Methods The external quality assessment(EQA) of HbA2 and HbF was conducted twice a year and five samples was detected each time during 2012 to 2016.The laboratories participated in EQA completed the samples' detection and submitted the detection results at specified time according to the requirements of EQA.The distribution of each detection system,the qualification rate of each laboratory,the variation degrees of each detection system and each detection method,and the variations of results for different levels of quality control(QC) materials during 5 years were analyzed based on the returned results.Results The application of high performance liquid chromatography (HPLC) and capillary electrophoresis(CE) increased year by year and their usage rates in 2016 reached up to 46.1％ (82/178) and 18.0％ (32/178),respectively.The qualification rates of HbA2 and HbF increased from 51.5％ (34/66) and 60.6％ (40/66) in 2012 to 93.3％ (166/178) and 92.1％ (164/178) in 2016,respectively.The average coefficient of variation(CV) of each detection system decreased year by year.There were good CVs for the results of high,medium and low levels of HbA2 QC materials detected by the Bio-Rad Variant Ⅱ and Sebia CAPILLARYS 2 systems,and they were less than 6.0％.HPLC and CE could quantitatively detect the HbA2 and HbF levels,and their total detection competence was superior to that of agarose gel electrophoresis.Conclusion EQA can assess the abihty of one laboratory detecting HbA2 and HbF,and quantitatively analyze the levels of HbA2 and HbF,which may provide the quality assurance and data support for the screening and prevention of thalassemia.

BACKGROUND: Aseptic loosening occurs after long-term total hip replacement, which directly affects the service life and prospective efficacy of artificial joints. The particles produced by artificial joint wear lead to the surrounding bone dissolved, further cause loosening, among which, polyethylene particles because of acetabular liner wear stand out. OBJECTIVE: To systematically assess the acetabular liner wear, loosening and osteolysis caused by cross-linked polyethylene or conventional polyethylene after total hip arthroplasty. METHODS: A computer-based research of Medline, EMbase, CBM, CNKI, CqVip, WanFang databases before December 2015 and Cochrane (3rd issue, 2011) was performed in accordance with the retrieval strategy made by Cochrane collaboration. A manual retrieval of related bone journals and conference papers was conducted. Eleven randomized controlled trials about the wear caused by cross-linked polyethylene or conventional polyethylene after total hip arthroplasty were enrolled based on inclusion criteria, followed by a Meta-analysis using RevMan 5.0 software. RESULTS AND CONCLUSION: (1) Eleven randomized controlled trials involving 952 patients were included. (2) Meta-analysis showed that the acetabular liner wear rate of cross-linked polyethylene was significantly lower than that of conventional polyethylene at 5 years postoperatively [MD=-0.07, CI(-0.09, -0.05), I2=93%, P < 0.00001]; the large heterogeneity was decreased [MD=-0.06, 95%CI (-0.07, -0.04), I2=39%, P < 0.00001] after three research removed through sensitivity analysis. (3) The osteolysis rate in the cross-linked polyethylene group was significantly lower than that in the conventional polyethylene group [RR=0.39, 95%CI (0.27, 0.57), I2=0%, P < 0.00001]. (4) These results suggest that the cross-linked polyethylene liners exhibit reduced radiological wear and osteolysis, but the mean follow-up of 5 years (1.8 to 8.0) cannot meet the long-term requirements. Therefore, multi-central, large sample size and high-quality randomized controlled trials are needed to testify the efficacy and safety of cross-linked polyethylene.BACKGROUND: Aseptic loosening occurs after long-term total hip replacement, which directly affects the service life and prospective efficacy of artificial joints. The particles produced by artificial joint wear lead to the surrounding bone dissolved, further cause loosening, among which, polyethylene particles because of acetabular liner wear stand out. OBJECTIVE: To systematically assess the acetabular liner wear, loosening and osteolysis caused by cross-linked polyethylene or conventional polyethylene after total hip arthroplasty. METHODS: A computer-based research of Medline, EMbase, CBM, CNKI, CqVip, WanFang databases before December 2015 and Cochrane (3rd issue, 2011) was performed in accordance with the retrieval strategy made by Cochrane collaboration. A manual retrieval of related bone journals and conference papers was conducted. Eleven randomized controlled trials about the wear caused by cross-linked polyethylene or conventional polyethylene after total hip arthroplasty were enrolled based on inclusion criteria, followed by a Meta-analysis using RevMan 5.0 software. RESULTS AND CONCLUSION: (1) Eleven randomized controlled trials involving 952 patients were included. (2) Meta-analysis showed that the acetabular liner wear rate of cross-linked polyethylene was significantly lower than that of conventional polyethylene at 5 years postoperatively [MD=-0.07, CI(-0.09, -0.05), I2=93%, P < 0.00001]; the large heterogeneity was decreased [MD=-0.06, 95%CI (-0.07, -0.04), I2=39%, P < 0.00001] after three research removed through sensitivity analysis. (3) The osteolysis rate in the cross-linked polyethylene group was significantly lower than that in the conventional polyethylene group [RR=0.39, 95%CI (0.27, 0.57), I2=0%, P < 0.00001]. (4) These results suggest that the cross-linked polyethylene liners exhibit reduced radiological wear and osteolysis, but the mean follow-up of 5 years (1.8 to 8.0) cannot meet the long-term requirements. Therefore, multi-central, large sample size and high-quality randomized controlled trials are needed to testify the efficacy and safety of cross-linked polyethylene.

Objective To investigate the effect of terlipressin on hepatic and renal function in cirrhotic patients undergoing hepatectomy.Methods Aanlyze the clinical data of 57 patients following irregular hepatectomy for hepatocellular carcinoma with cirrhosis,according to whether use terlipressin or not after operation,which were divided into terlipressin group (A group,n =27) and control group (B group,n =30).Liver function parameters (ALT,AST,TB),ascites,urine volume and renal function parameters (Cr,BUN) preoperatively and on postoperative day(POD) 1,3,5 and 7 were compared between the two gruops.Results Compared with those of POD 1,the levels of ALT,AST and ascites on POD 3,5,7 were significantly lower in two groups (P ＜ 0.05),urine volume was significantly increased (P ＜ 0.05),Cr of POD 7 was significantly lower (P ＜0.05),but it is more remarkable in group A than group B.The levels of ALT in terlipressin group on POD 5,7 were (144.9 ±76.3) U/L,(100.5 ±61.5) U/L,which were lower than those of (267.2±91.2) U/L,(199.3 ±70.5) U/L in control group.On POD 3,5,7,the levels of AST,BUN,Cr and peritoneal fluid in terlipressin group,which were respectively(211.1 ±99.8) U/L,(80.4 ±54.6) U/L,(50.6 ±46.5) U/L,(6.6 ± 1.9) mmol/L,(6.5 ± 1.7) mmol/L,(6.3 ± 2.1) mmol/L,(74.3 ± 10.9) μmol/L,(71.5 ± 8.9) μmol/L,(58.7 ±4.1) μmol/L,(247.6±60.3) ml,(58.8±54.3) ml,(40.2±31.8) ml,were significantly lower than those in control group which were (298.7 ±131.2) U/L,(201.1 ±93.4) U/L,(114.7 ±70.3) U/L,(7.3 ± 1.9) mmol/L,(7.2±1.8) mmol/L,(7.1±1.7) mmol/L,(79.5±15.1) μmol/L,(76.9±16.2) μmol/L,(69.4±11.4) μmol/L,(275.2±88.1) ml,(191.7±71.6) ml,(93.2±50.2) ml.while urine volume of (2232.3±409.8) ml,(2270.5 ±395.8) ml,(2179.0±301.4) ml was much more than that of (1921 ± 510.4) ml,(2019.1 ±411.2) ml,(1978.7±323.7) ml in the control group,the differences in the two groups were statistically significant (P ＜ 0.05).There were 11 (36.7％) patients with hepatic and renal dysfunction and hepatorenal syndrome after operation in group B,while only 2 (7.4％) patients in group A.Conclusions The use of terlipressin after partial liver resection has a protective effect on hepatic and renal function in patients with cirrhosis,and can reduce postoperative ascites and prevent hepatorenal syndrome.

Objective To review the effect of exposed and buried Kirschner wire fixation of lateral humeral condyle fracture in children.Methods Randomized control trials (RCTs) about exposed versus buried Kirschner wire fixation of lateral humeral condyle fracture in children were identified through electronic search using the Cochrane Collaboration search strategies and manual search.Electronic database included Cochrane Library,Medline,PubMed,CBM,VIP,CNKI,Wanfang database and other Chinese and English database.Manual research included related journals and conference proceedings.Quality analysis of the included literatures was performed using the methodological index for non-randomized studies (MINORS).RevMan 5.3 software was used for Meta analysis.Results Four studies involving exposed Kirschner in 150 cases and buried Kirschner in 351 cases were included.The two techniques were similar with respect to postoperative infection (OR =1.10,95％ CI 0.52 ～ 2.33,P ＞ 0.05),superficial infection (OR =1.45,95 ％ CI 0.66 ～ 3.18,P ＞ 0.05),reoperation rate (OR =2.29,95％CI 0.51 ～ 10.25,P ＞0.05),delayed union rate (OR =1.57,95％ CI 0.76 ～ 3.21,P ＞0.05) and total complications (OR =1.57,95％ CI 0.76 ～ 3.21,P ＞ 0.05).However,Kirschner wire exposure shortened the time of pulling out Kirschner wire (MD =-13.28,95％ CI-16.42 ～-10.14,P ＜0.05).Conclusion Applied for lateral humeral condyle fracture in children,exposed versus buried Kirschner wire fixation results in short Kirschner wire stabilization time that avoids local anesthetic and cost while pulling out Kirschner wire in the late stage.