Objective To investigate the relationship between leprosy and some correlative immunomolecules in peripheral blood.Methods lymphocytes from peripheral blood in 16 leprosy patients in different periods were immunologically labeled by monoclonal antibodies from mouse CD 3/CD 4/CD 8,CD 3/CD (16+56) (NK) and CD 3/HLA-DR were determined by using flow cytometry(FCM).Results The levels of CD 3 +/CD 4 +,CD 3 +/HLA-DR and CD 4/CD 8 ratio in active period were lower in 16 patients than those of normal group,while CD 3 +/CD (16+56) +,CD 3 +/HLA-DR + were higher,NK was in the normal range.In stable period 2～4 week after treatment CD 3 +/CD 4 +,CD 3/HLA-DR - and CD 4/CD 8 were gradually increased,CD 3 +/CD (16+56) +,CD 3 +/CD 8 + and CD 3 +/HLA-DR + were increased slightly or no change ,and NK was increased slightly in 13 cases in unstable period.In other 3 case,CD 3 +/CD 4 +,CD 3 +/HLA-DR and CD 4/CD 8 were decreased than that in stable period,while the CD 3 +/CD (16+56) +,CD 3 +/HLA-DR + and NK were double increased than that in stable period.Conclusions Dynamic determination of associated immunlogical molecules in peripheral blood of leprosy patients is helpful to evaluate the change of illness state,it also play an important role in the treatmant of the disease.

Objective To explore the feasibility and safety of primary suture in laparoscopic common bile duct exploration(LCBDE) for treating choledocholithiasis.Methods The clinical data in 185 cases of choledocholithiasis underwent LCBDE in Sun Yat-sen Memorial Hospital from March 2010 to October 2015 were retrospectively analyzed.The patients were divided into 1aparoscopic common bile duct exploration and primary suture(LBEPS) group(117 cases) and T tube drainage group(68 cases) according to different processing modes of common bile duct incision.The operative time,intra-operative blood loss amount and postoperative complications were observed in the two groups.Results All operations were successfully performed in both two groups without converting to laparotomy.The operative time,intra-operative blood loss amounts and postoperative complications had no statistically significant differences between the LBEPS group and T tube drainage group(P>0.05).The postoperative hospital stay of the LBEPS group was significantly shorter than that of the T tube drainage group(P<0.01).There was no bile duct stricture or stone recurrence during the follow up period in the two groups.Conclusion Under strictly grasping the operation indication,selecting correct suture material and possessing practiced operating skills,primary suture of laparoscopic choledocholithiasis is safe and feasible,can avoid the risk of T tube placing related complications,has short postoperative hospitalization duration and increases postoperative living quality.

AIM To study the effects of poly- N -acetylglucosamine on the metabolism of low density lipoprotein and lipoprotein (a). METHODS Poly- N -acetylglucosamine was injected into the body of hedgehogs viathe armpit vein 2 minutes before the 125 I low density lipoprotein ( 125 I-LDL), 125 I lipoprotein(a) 〔 125 I-Lp(a)〕, 125 I desialylated low density lipoprotein ( 125 I-ds-LDL) or 125 I desialylated lipoprotein(a) 〔 125 I-ds-Lp(a)〕 were injected separatively . The animals were put to death in one hour. The radioactivity in the blood, liver, kidney, spleen, gall and adrenal were measured. RESULTS Absorption of ds-LDL and ds-Lp(a) increased in the liver. Later ds-LDL was reutilized and released into blood, but the majority of ds-Lp(a) was excreted out of the body from liver. It was not eliminated that ds-LDL was metabolized via the LDL receptor for the uptake of ds-LDL also increased in the kidney and the adrenal. It is possible that ds-Lp(a) and the part of ds-LDL may be catabolized via the desialylated lipoprotein-related receptor. Poly- N -acetylglucosamine could increase the absorption of LDL in the liver and the adrenal, meanwhile the concentration of LDL decreased in the blood and the absorption of LDL decreased in the spleen. CONCLUSION Poly- N -acetylglucosamine has the effects of lowering lipids through activating LDL receptor.

ObjectiveTo investigate long-term effect on radiofrequency heat-coagulation (RF)endometrial ablation in treatment of anovulatory dysfunctional uterine bleeding (DUB). MethodsFrom Jul.2001 to Nov. 2009, 1 196 patients with DUB who were failed by medical treatment( including 127 patients with dysmenorrheal) were enrolled into this study in Jinan Millitary General HospitaL Those patients were divided into two groups according to age:427 patients at age of or more than 45 years (average age 48 years) in Group A who were treated by RF procedure for amenorrhea;769 patients at age of less than 45 years old (average 37 years) in group B were treated by RF for controlling excessive menstrual bleeding. All the patients had the results of menstrual score (pictorial blood loss assessment chart, PBAC), hemoglobin (Hb) ,endometrial curettage pathology and hysteroscopy examination immediately after RF procedure; Some patients still had another endometrial curettage pathology and clinical results in 6 months after RF. The mean follow-up time was 72 months ( range:6 to 100 months). The evaluation criterion for RF treatment was to use optimal and significant effect measurements. For group A, the optimal treatment effect (cure) was defined as bleeding cessation and achieving amenorrhea that continued for more than 12 months after treatment. For group B, the optimal treatment effect (cure) was also defined as bleeding cessation and resuming normal menstruation which continued for more than 12 months after treatment. Significant treatment effect was defined as irregular, minor bleeding, but PBAC score less than 100 within 12 months. If patient symptoms and PBAC scores did not change compared with those before treatment, the treatment was defined as failure. For dysmenorrhea, the optimal treatment effect was disappearance for more than 12 months, the significant treatment effect was remission, and treatment failure was not changed from the pre-treatment baseline. The effective rate was the sum of that of the optimal and significant effect. One hundred and twentyfive patients with DUB treated by agents at the same time were chosen as control group. Results( 1 ) The recent and long-term effective rates for bleeding cessation by RF: the total recent effective rates within 1 months were 94. 82％ ( 1134/1196), including 96. 5％ (412/427) in group A and 93.9％ (722/769) in group B. The total curative rates for dysmenorrheal were 82. 7％ ( 105/127 ), including 86. 4％ ( 38/44 ) in group A and 80. 7％ ( 67/83 ) in group B. Pathology examination after hysteroscopy immediately after RF showed a completely and whole destroyed endometrium in group A, and a little rested endometrium in group B. The long-term effect rates for bleeding cessation by RF after 12, 24 and 36 months were 92. 55％ (969/1047), 93.9％ (866/922) and 93.7％ (609/650), respectively. PBAC and Hb in group A and group B within 12, 24, 36 and more than 36 months were improved significantly ( P ＜ 0. 05 ). (2) Complications : the major complication was irregular minor bleeding in 1 to 2 months after treatment, the rate was 8.03％ (96/ 1196). The second one was menorrhea in 3 months after RF, the rate was 5. 18％ (62/1 196 ). This condition was corrected by the second RF. No hysterectomy was performed on those patients. Conclusion RF is the safe, efficient and minimal invasive procedure in treatment for DUB. The mechanism of keeping longterm curative effect and preventing recurrence is due to endonetrium inactivation and fibrosis by thermocoagulation.

Objective:To explore the genetic etiology of a fetus with cryptophthalmos detected by prenatal ultrasonography.Methods:A fetus undergoing induced labor at 32nd gestational week due to absence of bilateral eye fissures detected by prenatal ultrasonography in January 2017 was selected as the study subject. Umbilical cord blood sample from the fetus and peripheral blood samples from its parents were collected for the extraction of genomic DNA. Pathogenic variants were screened through whole exome sequencing (WES) and verified by Sanger sequencing. Pathogenicity of candidate variants was verified by bioinformatic analysis and protein structure simulation. Based on the results of genetic testing, prenatal diagnosis was provided to the couple upon their subsequent pregnancy.Results:The couple had four adverse pregnancies previously. The aborted fetus was the fifth, with fused bilateral upper and lower eyelids, poorly developed eyeballs, adhesion of the cornea with the upper eyelid, low-set ears, and abnormal plantar creases, and was diagnosed with cryptophthalmos. WES and Sanger sequencing revealed that the fetus has harbored compound heterozygous variants of the FREM2 gene, namely c. 4537G>A (p.D1513N) and c.7292C>T (p.T2431M). Both variants were unreported associated with cryptophthalmos previously. Protein structure simulation showed that they may lead to loss of hydrogen bonds in the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1_Supporting+ PM2_Supporting+ PM5+ PP3+ PP4; PM2_Supporting+ PM3+ PP3+ PP4). The mother was performed prenatal diagnosis in her sixth pregnancy based on the variants detected in this family, and delivered a daughter with normal phenotype. Conclusion:The FREM2: c. 4537G>A and c. 7292C>T compound heterozygous variants probably underlay the pathogenesis of cryptophthalmos in this fetus. Above finding has enriched the mutational spectrum of the FREM2 gene.

Objective To identify the clinical features and pathogenic variants in two unrelated families with gna-thodiaphyseal dysplasia(GDD),a rare genetic bone disorder.Methods Facial and limb deformities and skeletal morphology were observed in the probands and their family members.Peripheral blood samples(3-4 mL)were col-lected from the probands and their parents.Genomic DNA was extracted by standard phenol-chloroform method.Whole exome sequencing(WES)was performed to screen for candidate pathogenic gene variants of the probands.PCR-Sanger sequencing was used to validate the candidate pathogenic variants in the probands and their family members.The pathogenic variants responsible for GDD in the target families were determined through co-segregation of the pathogenic variants in the affected families,evolutionary conservation at the mutation sites,population allele frequency analysis and bioinformatics analysis.Results Heterozygous missense variants in the ANO5 gene were identified in both GDD probands.In family 1,the pathogenic variant was c.1 066T＞G located in the exon 11 of the ANO5 gene,while in family 2,the pathogenic variant was c.1 553G＞A located in the exon 15 of the ANO5.These two variants resulted in the substitutions of amino acid cysteine with glycine at position 356(p.Cys356Gly)and amino acid glycine with glutamic acid at position 518(p.Gly518Glu)in the ANO5 protein,respectively.Conclusions This study first identified the pathogenic variant c.1 066T＞G(p.Cys356Gly)in Chinese population,provided important evidence for prediction of disease prognosis and development of potential prenatal genetic diagnosis.