Objective To study effects of GDNF and HSV GDNF on apoptosis of spinal cord motoneurons after scratch injury in vitro. Methods In the period of culture cell,motor neurons were periodically observed and counted.Scratch injury was executed on culturing 12th day,in the same time,cultured neurons were divided into 4 groups,and each group was given corresponding medium(medium serum free control group,serum group,HSV GDNF group,GDNF group).On the 4th and 7th day after scratch injury,TUNEL staining was respectively performed,and the number and the mean densities of apoptotic motoneurons were observed. Results The number of living motoneurons was in inverse proportion to time of scratch injury in each group.The number of apoptotic motoneurons from control group,HSV GDNF group to GDNF group was successively decreased as well as the mean densities of apoptotic motoneurons on the 4th and 7th day after scratch injury.Furthermore,the effects of groups with serum were no better than those of medium serum free groups,in the same time,difference was not obviously in HSV GDNF group and GDNF group. Conclusion GDNF and HSV GDNF can decrease apoptosis of injured motoneurons in vitro .It suggests that GDNF and HSV GDNF might play an important role in the growth and development of motor neurons.

One new sesquiterpene was isolated from the fermentation broth of Streptomyces sp. and the structure was elucidated by spectral analysis as caryolane-1, 6beta-diol (1). An intermediate 1alpha, 6beta, 11-eudesmanetriol (2) in the biosynthesis of geosmin was also found in this strain which proved sequence for the reactions, especially bicyclization preceding dealkylation.

OBJECTIVE: To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism. METHODS: DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software. RESULTS: Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father. CONCLUSION The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Child ; Congenital Hypothyroidism ; diagnosis ; genetics ; Dual Oxidases ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense

Objective:To investigate the learning curve of laparoscopic transanal total mesorectal excision (taTME) for rectal cancer operated by one or two surgery teams.Methods:The retrospective cross-sectional study was conducted. Based on the concept of real-world research, the clinical data of 1 458 patients undergoing laparoscopic rectal cancer taTME from 44 medical centers who were registered in the Chinese taTME registry collaborative (CTRC) database from May 2010 to May 2020 were collected. The 1 458 patients were divided into cohorts with one surgery team or two surgery teams according to the operation method. Patients with one surgery team underwent taTME by transabdominal operation and then by transanal operation. Patients with two surgery teams underwent taTME by transabdominal and transanal operation simultaneously with duration of the simutaneous operation time ≥30 minutes. The entire surgical process of patients with two surgery teams is not required to be performed by two surgery teams simutaneously. The clinical data were collected from the medical centers with similar operation amount according to the operation time sequence to analyze the difference between different operation stages and explore the learning curve. The operation time was taken as the parameter to carry out cumulative sum analysis and draw the learning curve of laparoscopic rectal cancer taTME in each medical center. The clinicopathological characteristics of patients from two medical centers with the largest difference in learning curves were analyzed. Observation indicators: (1) screening results of clinical data; (2) clinical data collection of patients with one surgery team; (3) surgical situations of laparoscopic rectal cancer taTME from the one surgery team in different operation stages; (4) learning curve of the one surgery team; (5) clinical data collection of patients with two surgery teams; (6) surgical situations of laparoscopic rectal cancer taTME from the two surgery teams; (7) learning curve of the two surgery teams. The cumulative sum was calculated by the CUSUM=∑i=1nXi-U, where Xi represented the operation time of each taTME, U represented the average operation time of all cases, and n represented the operation number. Fitting process was conducted on scatter plot of learning curves. Taking the apex of learning curve as the boundary, the learning curve was divided into two stages. The abscissa corresponding to the apex of learning curve was the number of operations that needed to be performed to cross the learning curve. Measurement data with normal distribution were represented as Mean±SD. Comparison between two groups was conducted using the t test and comparison between multiple groups was conducted using the ANOVA. Measurement data with skewed distribution were represented as M( P25,P75), and comparison between groups was conducted using the Mann-Whitney U test. Comparison of ordinal data was analyzed using the rank sum test. Count data were analyzed using the chi-square test or Fisher exact probability. Results:(1) Screening results of clinical data:the clinical data of 661 patients from 7 medical centers with one surgery team and two surgery teams were collected. (2) Clinical data collection of patients with one surgery team: the clinical data of 312 patients undergoing laparoscopic rectal cancer taTME from 5 medical centers were collected including 42 cases in the number 2 medical center, 97 cases in the number 20 medical center, 82 cases in the number 33 medical center, 35 cases in the number 37 medical center and 56 cases in the number 39 medical center, respectively. (3) Surgical situations of laparoscopic rectal cancer taTME from the one surgery team in different operation stages: three medical centers including the number 2, number 37 and number 39 medical center with close operation volume provided the clinical data of cases distributed in five operation stages. Among the five operation stages, the proportion of high-quality operation of total mesorectal excision (TME) was ≥17/18, the incidence of postoperative complications was ≤13.3%(4/30) and the incidence of anastomotic leakage was ≤10.0%(3/30). There was no significant difference in the TME quality, postoperative complications or anastomotic leakage among the five operation stages ( P>0.05). There was no significant difference in the operation time among the five operation stages ( χ2=6.950, P>0.05). (4) Learning curve of the one surgery team: the number of operations corresponding to the turning point of learning curve in number 2 and number 20 medical center was 22 and 39, respectively. The number of operations corresponding to the turning points of learning curve in number 33 and number 37 medical center was 15, 66 and 10, 28, respectively. The number of operations corresponding to the turning point of learning curve in number 39 medical center was 20. The overall curve of number 20 medical center was in line with the trend of learning curve and 39 cases of operations was the minimum number needed to cross the learning curve. The biggest difference in learning curve was shown between the number 20 and number 33 medical center. Cases with the gender of male or female, age, body mass index, cases classified as stage 1, stage 2, stage 3 or stage 4 of the American Society of Anesthesiologists (ASA) Classification, cases with neoadjuvant therapy, duration of postoperative hospital stay of the number 20 medical center were 77, 20, (60±10)years, 24 kg/m 2(22 kg/m 2, 26 kg/m 2), 1, 88, 8, 0, 8, 8, 11 days (9 days, 13 days), respectively, versus 51, 31, (64±11)years, 23 kg/m 2(21 kg/m 2, 26 kg/m 2), 0, 35, 43, 1, 31, 16 days (13 day, 21 day) of number 33 medical center, showing significant differences in the above indicators between the two medical centers ( χ2 =6.442, t=-2.265, Z=-2.032, -6.870, χ2 =22.120, Z=-8.408, P<0.05). (5) Clinical data collection of the two surgery teams: the clinical data of 259 patients undergoing laparoscopic rectal cancer taTME from 5 medical centers were collected, including 46 cases in the number 2 medical center, 47 cases in the number 8 medical center, 78 cases in the number 18 medical center, 43 cases in the number 33 medical center and 45 cases in the number 44 medical center, respectively. (6) Surgical situations of laparoscopic rectal cancer taTME from the two surgery teams: four medical centers including the number 2, number 8, number 33 and number 44 medical center with close operation volume provided the clinical data of cases distributed in four operation stages. Among the four operation stages, the proportion of high-quality operation of TME was ≥50.0%(13/26), the incidence of postoperative complications was ≤35.0%(14/40) and the incidence of anastomotic leakage was ≤22.5%(9/40). There was no significant difference in the TME quality, postoperative complications or operation time among the four operation stages ( χ2 =3.252, 4.733, 8.848, P>0.05). There was a significant difference in the incidence of anastomotic leakage among the four operation stages ( P<0.05). (7) Learning curve of the two surgery teams: the number of operations corresponding to the turning point of learning curve in number 2 and number 8 medical center was 28 and 16, respectively. The number of operations corresponding to the turning points of learning curve in number 18, number 33 and number 44 medical center was 12 and 58, 10 and 36, 14 and 36, respectively. The overall curve of number 2 medical center was in line with the trend of learning curve and 28 cases of operations was the minimum number needed to cross the learning curve. The biggest difference in learning curve was shown between the number 2 and number 33 medical center. The age and cases with tumor in stage T0 and (or) Tis, stage T1, stage T2, stage T3 or stage T4 of the T staging of the number 2 and number 33 medical center were (60±12)years, 3, 1, 9, 11, 20 and (65±10)years, 2, 3, 22, 15, 0, respectively, showing significant differences in the above indicators between the two medical centers ( t=-2.280, Z=-4.033, P<0.05). Conclusion:Thirty-nine cases of operations was the minimum number for the one surgery team to cross the learning curve of laparoscopic rectal cancer taTME and 28 cases of operations was the minimum number for the two surgery teams to cross the learning curve of laparoscopic rectal cancer taTME.

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c.1663dup23). All parents were found to be carriers of the mutations. CONCLUSION Mutations of the SLC25A13 gene probably underlie the NICCD among the five patients, among which 851del4 and 1638-1660dup were the most common ones. This has enriched the spectrum of SLC25A13 mutation in association with NICCD.

OBJECTIVETo investigate the constituents from Huperzia serrata.

METHODTwo diterpenoid compounds were isolated by column chromatography with silica gel and Sephadex LH-20. The structures were elucidated by spectral analysis and X-ray crystallographic analysis.

RESULTTheir structures were determined as (15R)-12, 16-epoxy-11, 14-dihydroxy-8, 11, 13-abietatrien-7-one (1) and 3beta-hydroxysandaracopimaric acid (2).

CONCLUSIONCompound 1 was a new natural abietane-type diterpenoid, compound 2 was isolated from this plant for the first time.

Crystallography, X-Ray ; Diterpenes ; analysis ; chemistry ; Huperzia ; chemistry ; Magnetic Resonance Spectroscopy ; Molecular Structure ; Plants, Medicinal ; chemistry ; Spectrometry, Mass, Electrospray Ionization

OBJECTIVE: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease. METHODS: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Suspected mutations were analyzed with bioinformatic software and verified by Sanger sequencing. RESULTS: The patient had jaundice in his eyes and skin. Serum bilirubin was elevated along with hepatomegaly. Next generation sequencing showed that the patient has carried c.18C>A(p.C6X) and c.2556delA mutations in the MRP2 gene, which were respectively inherited from his father and mother. CONCLUSION The missense mutation c.18C>A and frameshift mutation c.2556delA probably account for the disease. NGS has provided a powerful tool for the diagnosis of rare genetic diseases including Dubin-Johnson syndrome.
Asian Continental Ancestry Group ; DNA ; High-Throughput Nucleotide Sequencing ; Humans ; Jaundice, Chronic Idiopathic ; Male ; Mutation

OBJECTIVE: To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome. METHODS: Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother. CONCLUSION The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.
Asian Continental Ancestry Group ; China ; Coffin-Lowry Syndrome ; genetics ; Humans ; Mutation ; Pedigree ; Ribosomal Protein S6 Kinases, 90-kDa ; genetics ; Sequence Deletion

Objective To evaluate the efficacy and safety of preoperative intra-aortic balloon pump(IABP) insertion in acute myocardial infarction(AMI) without cardiogenic shock(CS) patients receiving off-pump coronary artery bypass grafting ( OPCABG).Methods 444 consecutive AMI patients who underwent isolated OPCABG from January 2009 to December 2016 were enrolled.158 patients who underwent preoperative IABP placement(IABP group) and the other of 286 patients who did not have IABP placement(control group).The in-hospital mortality rate, postoperative complications, mechanical ventilation time, ICU stay and hospital length were compared between the two groups.Results The overall mortality was 5.0%.135 pairs of patients were matched.The preoperative IABP insertion showed benefits in postoperative survival rate compared with the control group(0 vs.5.9%, P＝0.004).However, patients with preoperative IABP were more likely to prolong duration of mechanical ventilation and ICU stay.The postoperative length of stay in hospital didn't show significant difference between the two groups.Conclusion Survival advantage was observed from preoperative IABP insertion in AMI patients without CS under-going OPCABG.

Objective:To explore the risk factors of lymph node metastasis and prognosis in Siewert Ⅱ/Ⅲ adenocarcinoma of esophagogastric junction (AEG) patients.Methods:A total of 134 patients who underwent surgical operation between June 2013 and December 2019 at the Beijing Friendship Hospital, Capital Medical University were retrospectively reviewed, including 112 males and 22 females, with a male to female ratio of 5.5∶1 and an average age of 62.1(27-82 years old). The primary outcomes were lymph node metastasis risk and 3-years overall survival. The secondary outcomes were the rate and pattern of lymph node metastasis. Follow-up methods mainly include outpatient and telephone. During the follow-up period, the patient needs to receive physical examination, laboratory examinations, chest and abdominal CT scan and gastroscopy to evaluate the status of disease. The patients were followed up until January 2020. Chi-square test or Fisher test was used for the comparison between count data group, and rank sum test was used for the comparison between grade data group. Stepwise Logistic regression was used for multivariate analysis, and COX regression risk model was used for survival analysis.Results:Multivariate analysis revealed that the parameters infiltration depth ( OR=4.341, 95% CI: 2.498-7.545, P=0.000), gross type ( OR=3.626, 95% CI: 1.425-9.228, P=0.007) and intravascular cancer embolus ( OR=2.888, 95% CI: 1.106-7.544, P=0.030) correlated with lymph node metastasis. For all patients, the lymph nodes No. 1, 2, 3, 4, 7, 11 indicated higher lymph node metastatic rate in the abdominal cavity. However, No.5 and No. 6 indicated different tendency, which was higher in Siewert Ⅲ AEG and lower in Siewert Ⅱ AEG patients. Mediastinal lymph node metastasis of Siewert Ⅱ AEG mainly occurred in No. 110 and No. 111 cases corresponding to 7.1 and 3.0%, respectively, compared with those noted in Siewert Ⅲ AEG patients. The 3-year overall survival analysis revealed that lymph node metastasis (82.1% vs 46.1%, P=0.046) and chemotherapy (60.6% vs 39.4%, P=0.007) exhibited significant differences. Conclusions:The infiltration depth, gross type and intravascular cancer embolus are independent risk factors of lymph node metastasis. In addition, patients with lymph node metastasis exhibite worse long-term prognosis. The data indicate that perioperative chemotherapy could improve the prognosis of AEG patients.