Child ; Choristoma ; Humans ; Male ; Neck ; pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Thymus Gland ; pathology ; Thymus Neoplasms

Objective To investigate the correlation of variations of ABCB11 gene and primary intrahepatic stone (PIS).Methods The retrospective case-control study was conducted.The clinical data of 319 patients with PIS and 344 healthy controls who were admitted to the Southwest Hospital of the Third Military Medical University between December 2012 and December 2015 were collected.Three hundred and ninteen patients with PIS and 344 healthy controls were respectively allocated into the PIS and control groups.Twenty-seven exons in ABCB11 gene were detected via polymerase chain reaction (PCR) and DNA sanger sequencing.Observation indicators included:(1) variations and genotype frequency distribution of ABCB11 gene in the 2 groups;(2) correlation analysis between variations of ABCB11 gene and clinical data of patients with PIS:preoperative indicators of liver function test,recurrent episodes of cholangitis,preoperative obstructive jaundice,type and recurrence of stones.Comparison between groups in variations and genotype frequency distribution of ABCB11 gene was analyzed by the Logistic regression.The Kruskal-Wallis H test was performed to explore the correlation between genotype of ABCB11 gene and clinical test results of patients with PIS.Correlation between genotype of ABCB11 gene and clinicopathological data of patients with PIS was analyzed by the chi-square test.Results (1) Variations and genotype frequency distribution of ABCB11 gene in the 2 groups:whole-exome sequencing results showed that synonymous mutations of rs3815675,rs2287616 and rs497692 and missense mutations of rs2287617,rs2287622 and rs118109635 in the PIS group were respectively detected in exon 4,9,24 and 9,13,21.CT genotype frequency of rs118109635 was 4.70％(15/319) in the PIS group and 1.45％ (5/344) in the control group,respectively,with a statistically significant difference [OR=3.49,95％ confidence interval (CI):1.17-10.40,P＜0.05].GG and AG+GG genotype frequency of rs497692 were 46.08％ (147/319),87.46％ (279/319) in the PIS group and 37.79％ (130/344),79.36％ (273/344) in the control group,respectively,with a statistically significant difference (OR=1.73,1.65,95％ CI:1.05-2.83,1.04-2.61,P＜0.05).(2) Correlation analysis between variations of ABCB11 gene and clinical data of patients with PIS:levels of glutamyl-transpeptidase (GGT),alkaline phosphatase (ALP) and direct bilirubin (DBil) in the PIS group were 167 U/L (range,7-1 968 U/L),166 U/L (range,36-1 527 U/L),4 μmol/L(range,1-272 μmol/L) in the CC genotype of rs118109635 and 433 U/L(range,17-864 U/L),232 U/L (range,85-613 U/L),6 μmol/L(range,2-173 μmol/L) in the CT genotype of rs118109635,respectively,with a statistically significant difference (H=6.025,5.879,8.056,P＜0.05).Globulin level of PIS group was respectively 32 g/L (range,20-40 g/L),34 g/L(range,17-50 g/L) and 33 g/L(range,14-49 g/L) in the AA,AG and GG genotype of rs497692,respectively,with a statistically significant difference (H=12.119,P＜0.05).Of 81 patients with recurrence of PIS,GG and GA genotypes of rs2287617 were detected in 78 and 3 patients,respectively,with a statistically significant difference (x2=5.367,P＜0.05);TT,TC and CC genotypes of rs2287622 were detected in 12,39 and 30 patients,respectively,with a statistically significant difference (x2=6.153,P＜0.05).Of 127 patients with obstructive jaundice,116 and 11 patients had CC and CT genotypes of rs118109635,respectively,with a statistically significant difference (x2=7.381,P＜0.05);11,43 and 73 patients had AA,AG and GG genotypes of rs497692,respectively,with a statistically significant difference (x2 =11.364,P＜0.05).Conclusion There is a correlation between rs118109635 and rs497692 of ABCB11 gene and PIS,meanwhile,the above variation loci are associated with obstruction of biliary tract and cholestasis.

Objective To compare everolimus (EVR) with calcineurin inhibitor (CNI) minimization or withdrawal on renal function of liver transplant patients with standard CNI therapy.Methods A search was conducted on databases which included the PubMed,Embase and Cochrane library for randomized controlled trials (RCTs) comparing EVR with CNI with minimization or withdrawal (the EVR group) with standard CNI therapy (the standard CNIs group) on renal function of liver transplant patients.A metaanalysis was performed using RevMan 5.3 software.Results Five RCTs which included 1 264 patients were selected into this study.There were 790 patients in the EVR group and 474 patients in the standard CNIs group.On meta-analysis,the EVR group had significantly better renal function (SMD =0.36,95％ CI 0.09 ～ 0.64,P ＜ 0.05),but higher rates of infection (RR =1.37,95％ CI 1.08 ～ 1.74,P ＜ 0.05),dyslipidemia (RR =2.46,95％ CI 1.79 ～ 3.38) and leukopenia (RR =2.37,95％ CI 1.32 ～ 4.26).No significant differences were found on the mortality and the acute rejection rates between the two groups (all P ＜ 0.05).Conclusions EVR with CNI minimization or withdrawal after liver transplantation provided effective immunosuppression and improved patients' renal function.The treatment increased the rates of infection,dyslipidemia and leukopenia.

Objective To conduct a systematic review on the safety and efficacy of enhanced recov -ery after surgery ( ERAS) in perioperative management of hepatectomy .Methods A literature search was conducted on databases which included the PubMed , Embase, Cochrane Library, Sinomed, Wangfang, VIP and CNKI for randomized controlled trials ( RCTs) on application of ERAS in patients after hepatectomy . The data collection ended in August 2015.A meta-analysis was performed using RevMan 5.3 software.Re-sults Eleven RCTs which included 1074 patients were selected into this study .There were 530 patients in the ERAS group and 544 patients in the control group .On Meta-analysis, when compared with the control group, the ERAS group had significantly shorter length of hospital day (WMD=-2.36, 95%CI: -3.19~-1.54 , P<0.05 ) , shorter time for functional recovery ( WMD=-2.30 , 95%CI: -3.77 ~-0.83 , P<0.05), lower total complication rate (RR=0.65, 95%CI:0.52~0.80, P<0.05), and significantly decreased rates of postoperative pulmonary infection (RR=0.36, 95%CI:0.14~0.91, P<0.05) and nausea and vomiting (RR=0.48, 95%CI:0.26~0.89, P<0.05).There were no significant differences between the two groups on the rates of postoperative bleeding , biliary fistula, abdominal infection, delayed incisional healing, wound infection and urinary tract infection (P>0.05).The ERAS group had significant-ly lower hospitalization cost (SMD=-1.61, 95%CI:-2.42~-0.80, P<0.05), but the differences between the two groups on mortality and re-admission rates were not significant (P>0.05).When compared with the control group , the drainage tube removal time ( WMD=-2.83 , 95% CI:-3.92~-1.76 , P<0.05), time to first mobilization (SMD=-2.34, 95%CI:-2.98~-1.70, P<0.05), time to first feeding ( SMD=-5.08 , 95%CI: -9.33~-0.83 , P<0.05) , time to passage of first flatus ( SMD=-3.60, 95%CI:-4.85~-2.34, P<0.05) in the ERAS group were significantly shorter , but there was no significant difference on the time to the first bowel motion ( P>0.05 ) .Conclusions ERAS in the peri-operative management of hepatectomy was safe and beneficial .

Objective To investigate the clinical efficacy of acupuncture plus bloodletting therapy for post-stroke limb sensory disturbance.Methods Ninety patients with post-stroke limb sensory disturbance were randomly allocated to treatment and control groups, 45 cases each. The treatment group received acupuncture plus bloodletting therapy and the control group, acupuncture alone. The disease and motor function were scored in the two groups before and after treatment. The clinical therapeutic effects were compared between the two groups.Results There were statistically significant pre-/post-treatment differences in the disease score and the motor function score in the two groups (P<0.05). There were statistically significant post-treatment differences in the disease score and the motor function score between the treatment and control groups (P<0.05). The total efficacy rate was 91.1% in the treatment group and 66.7% in the control group; there was a statistically significant difference between the two groups (P<0.01). Conclusions Acupuncture plus bloodletting therapy is an effective way to treat post-stroke sensory disturbance. It can improve the clinical symptoms and motor function in the patients.

Objective To compare the effect between intra-arterial and intra-venous neoadjuvant chemotherapy(NACT)in stage Ⅰb2-Ⅱ b cervical carcinoma.Methods A retrospective analysis Was done on 52 cases of intra-venous NACT and 95 eases of intm-arterial NACT for stage Ⅰ b2-Ⅱ b cervical carcinoma treatad in Peking Union Medical College Hospital from 1999.ResulIs The response rate of intraveHous NACT and intra-arterial NACT was 88%(46/52)and 79%(75/95).and the operative rate after NACT Was 81%(42/52)and 72%(68/95)respectively(P>0.05).There were no significant differences in surgery time,blood loss and pest-operative morbidity between these two groups.Pathological parametrial positive rate after NACT in arterial group(6%)Was significantly lower than that of venous group (50%,P>0.05).The venous group had very similar recurrence rates(13%vs 17%)and death rates (9%VS 12%)when compared with the arterial group(P>0.05).Conclusions The intra-arterial and intra-venous NACT for stage Ⅰ b2-Ⅱb cervical carcinoma show similar response rate.operative rate and surgical difficulties.Arterial NACT shows a better effect on parametrial infiltration.

Objective To identify the differentially expressed genes in cardinal ligament between patients with pelvic organ prolapse ( POP) and postmenopausal women without POP by Human Genome Expression Chip and explore the potential molecular mechanism involved in POP.Methods From January to May,2007,cardinal ligament samples were obtained from 3 postmenopausal patients with POP-Q stage Ⅲ and 3 postmenopausal patients underwent hysterectomy due to other benign gynecologic diseases without POP in Peking Union Medical College Hospital.HE and Masson's trichrome staining was used to verify tissue origin and inspect histological changes.Those differentially expressed genes in cardinal ligaments were identified by Human Genome Chip and further interrogated with Gene Ontology (GO) and Pathway Analysis.Those remarkable expressed genes were confirmed by qRT-PCR.Results Alterations of ligament architecture in POP patients included disarrangement and collapse of smooth muscle bundles and collagen fibers.A total of 179 differentially expressed genes were screened between POP and non-POP cardinal ligament tissue,including 20 functional unknown genes.A total of 107 genes were upregulated in POP group,while 72 genes downregulated.Those differentially genes were revealed associated with multiple functional proteins and metabolic pathways by biological analysis.Among these,Wnt signaling pathway exhibited the most remarkable changes.Real-time quantitative PCR showed the genes of COL1Al,DKK1,SFRP1,FZD5,WNT16b in POP group (2.98 ±1.40,3.03 ±0.48,8.13 ±4.42,5.19 ±3.50,12.40± 3.88) were upregulated significantly compared with non-POP group (1.09 ±0.08,1/20 ±0.18,0.41 ± 0.51,0.87 ±0.24,1.40 ±0.47; P < 0.05 ).Conclusions The pathophysiology of POP is complex and associated with multiple functional proteins and metabolic pathways.Among these,the antagonist DKK1,SFRP1 in Wnt signaling pathway may contribute to a neurodegenerative role in POP development.

Objective To evaluate the clinical value of noninvasive positive-pressure ventilation (NPPV) treatment in acute respiratory distress syndrome caused by acute pancreatitis. Methods A retrospective study of 27 cases, with acute respiratory distress syndrome (ARDS) caused by acute paucreatitis,who were admitted to our department from Jan 2007 to May 2010 and treated with NPPV, was performed. The changes of heart rate, respiratory rate, PaO2, oxygenation index (OI) and PaCO2 before and after treatment were compared. Results The heart rate, respiratory rate of 25(92.6％ ) patients decreased from (118.4 ±13.4)/min, (32.1 ± 1.7)/min to ( 81.9 + 8.5 )/min, ( 19.9 ± 2.1 )/min; PaO2, OI and PaCO2 increased from (74.1 ±5.0)mmHg, (148.2 +10.0)mmHg, (28.7 ±1.6)mmHg to (110.4 ±20.8)mmHg, (204.5±71.1)mmHg, (38.4 +3.6)mmHg 48 h after NPPV, respectively, and they recovered and were transited to oxygen supply by Venturi mask. 2 (7.4％) patients deteriorated and were transited to invasive positive-pressure ventilation support. Conclusions NPPV could effectively improve oxygenation of patients with ARDS caused by acute pancreatitis. The procedure of NPPV is relatively easy to use and to learn with few complications, and worth of clinical application.

Objective To evaluate the prognosis and fertility outcomes of patients with early stage of cervical cancer treated by vaginal radical trachelectomy ( VRT ) in combination with laparoscopic pelvic lymphadenectomy.Methods The surgical data , disease recurrences and fertility outcomes were analyzed retrospectively for 51 patients who received VRT in Peking Union Medical College Hospital from Dec.2003 to Nov.2013.Results Forty-eight patients succeeded in preserving fertility.The median age was 29 years.International Federation of Gynecology and Obstetrics ( FIGO ) stage: 5 cases Ⅰa1 with lymph vascular space invasion (LVSI),4 cases Ⅰa2 and 39 cases in stage Ⅰb1.Tumor size: 20 cases with no visible lesion, 20 cases with tumor size ≤2 cm, 8 cases with tumor size >2 cm.Histological type:42 cases with squamous carcinoma , 6 cases with adenocarcinoma or adeno-squamous carcinoma.The mean excised cervical length and parametrial width was ( 2.6 ±0.6 ) cm and ( 1.9 ±0.5 ) cm, respectively.Six recurrences ( 12%) were observed after following up for a mean duration of ( 35 ±21 ) months.The recurrent rate in patients with tumor size >2 cm was 3/8, which was significantly higher than that of the
patients with tumor size ≤2 cm (8%, 3/40;P<0.01).Of the 35 patients who desired to conceive after the surgery, 13 women had 17 pregnancies and the pregnant rate was 37% (13/35).Nine women obtained 10 healthy live birth babies.The fertility rate was 26%( 9/35 ).Conclusions VRT in combination with laparoscopic pelvic lymphadenectomy could preserve the fertility of patients with early stage of cervical cancer with acceptable oncologic and fertility outcomes.Tumor size ≤2 cm should be emphasized as the indication of VRT in considering of the higher recurrent rate in patients with tumor size >2 cm.

With the rapid development of medical genetics,online Medelian inheritance in man (OMIM) manifests a more and more important role in medical genetics teaching.Using the educational form combining ‘ classroom teaching,review writing and seminar’,‘ Query and use of OMIM ’was introduced into the education of medical genetics.Reality practice revealed that this educational practice maintained advanced and timely status of knowledge and deeply activated self-studying and independent thinking ability of students.