OBJECTIVETo investigate the technique and therapeutic effect of laparoscopy-insisted vaginoplasty with peritoneum in patients with androgen insensitivity syndrome.

METHODSFrom May. in the Fifth People' s Hospital of Shenzhen. The therapeutic effect was retrospectively analyzed.

RESULTSLaparoscopy-insisted vaginoplasty was successfully completely with peritoneum in patients with androgen in 4 cases. Ileumtivity segyndroment was used instead of peritoneum in one case. Open operation was not adopted in any cases. The ectopic testicles were removed during operation in 4 cases. The average operation time and bleeding volume was 60 min and 20 ml, respectively. Rectum, bladder and urethra were not injured in any case. The average vaginal length was 9 cm (range 8-10 cm) 21-28 days after operation. 6 months after operation, the surface of reconstructed vagina was smooth, ruddy and flexible, with satisfactory anatomical and functional results. Normal sexual activity was achieved in 2 cases.

CONCLUSIONSLaparoscopy-insisted vaginoplasty with peritoneum could be used for female patients with androgen insensitivity syndrome. The ectopic testicles should be removed. Estrogen supplement and psychological guide after operation are also important.

Adult ; Androgen-Insensitivity Syndrome ; surgery ; Female ; Humans ; Laparoscopy ; methods ; Male ; Peritoneum ; surgery ; Reconstructive Surgical Procedures ; methods ; Vagina ; surgery ; Young Adult

OBJECTIVETo investigate the association between a functional rs4149601 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and essential hypertension in Kazakh.

METHODSIn this population-based association study, the genotypes of rs4149601 polymorphism were identified by TaqMan PCR in 883 subjects (male 375 383 hypertensives) and its distribution and relationship to hypertension were studied. The association between haplotype (rs4149601, 296921-296923delTTG, rs2288774 and rs2288775, the last three polymorphisms are representative variations identified from 94 Kazakh hypertensive individuals by screening the functional region of NEDD4L previously) and hypertension was also investigated.

RESULTSThe genotype distribution of rs4149601 polymorphism was in Hardy-Weinberg equilibrium. The genotype distribution of rs4149601 polymorphism was similar between the essential hypertension patients and the control individuals (all P > 0.05). In the haplotype-based case-control analysis, the distribution of the haplotypes was not significantly different between the case and the control individuals in total and in male subjects but the frequency of D-C-G-G (296921-3delTTG/rs2288774/rs2288775/rs4149601) haplotype was significantly higher in hypertensive than in control individuals in female (P = 0.026).

CONCLUSIONOur results suggested that D-C-G-G haplotype of NEDD4L but not rs4149601 polymorphism was linked with hypertension in Kazakh.

Adult ; Alleles ; Asian Continental Ancestry Group ; genetics ; China ; epidemiology ; Endosomal Sorting Complexes Required for Transport ; genetics ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Hypertension ; epidemiology ; genetics ; Male ; Middle Aged ; Nedd4 Ubiquitin Protein Ligases ; Neurons ; Polymorphism, Single Nucleotide ; Ubiquitin-Protein Ligases ; genetics

OBJECTIVETo investigate the relationships between rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene and obesity in Kazakh general population.

METHODSBased on a cross-sectional epidemiological study in a Kazakh general population, a case-control study was conducted. The rs3865418 polymorphism in a Kazakh general population (856 subjects, including 364 males and 492 females; 478 in obesity group and 378 in normal control group) was genotyped by TaqMan polymerase chain reaction, and the relationship between rs3865418 polymorphism and obesity was analyzed.

RESULTSThe rs3865418 polymorphism was successfully genotyped in 851 Kazakh subjects. The distribution of the genotypes and alleles of rs3865418 polymorphism did not differ significantly between the obesity group and normal control group in terms of general populations, males, and females (all P > 0.05). The waist circumference showed a tendency of C/C > C/T > T/T in males and C/C < C/T < T/T in females, but without statistical significance (P > 0.05).

CONCLUSIONSThe rs3865418 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene may not be associated with obesity in Kazakh general population. In other words, it is not a predisposing factor for obesity in Kazakh.

Adult ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Cross-Sectional Studies ; Endosomal Sorting Complexes Required for Transport ; genetics ; Ethnic Groups ; genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Nedd4 Ubiquitin Protein Ligases ; Obesity ; genetics ; Polymorphism, Genetic ; Ubiquitin-Protein Ligases ; genetics

Objective To investigate the feasibility of complicate myomectomy.Methods Six- seven patients with complicated uterine myomas undergoing laparoscopic myomectomy were retrospectively analyzed.The myomectomy was done using ureteral infravision imaging system or/and with self-made myoma segregate-stick.Among the total,there are 29 cases of multiple myomas(the number of myomas≥5)and 23 cases of single myoma(the diameter of myoma≥7cm,including 19 cases of intramural myoma,4 cases of subserous myoma),6 cases of myoma of broad ligament of uterus and 9 cases of cervical myoma.Results All cases were performed successfully laparoscopically.No intra-operative laparotomy or complications occurred.The average operating time and blood loss were(114?32)min and(114?78)ml respectively. The average time of hospital stay was 5.1 d.The average operating time and blood loss in the group (including multiple myoma group,intramural myoma group and cervical myoma)were significantly exceeded the other groups(including myoma of broad ligament of uterus group and subserous myoma group). Conclusions Laparoscopic complicate myomectomy can be performed and the operation indication is enlarged using Ureteral Infravision Imaging System.Advancement in surgical instruments and expert operating skills are the key to operation success.

Objective To discuss the microsurgical resection of intracranial cystic tumors.Methods From August 2003 to August 2010, 47 patients who had been diagnosed by imaging with intracranial cystic tumor received microsurgical resection. The tumors were confirmed by pathological examination postoperation.There were 22 cases of cystic glioma,8 cases of cystic meningioma,3 cases of malignant cystic meningioma,4 cases of cystic ependymoma,4 cases of angioreticuloma and 6 cases of cystic metastatic tumor.When the skull was minimally opened according to the location of the tumor,the hydatid fluid was absorbed before separation and resection of the tumor with its capsule under endoscopy. Results Total resection was performed in 31 cases (65.96％) and sub-total resection in 16cases (34.04％).No operative death occurred.Neural dysfunction was observed not long postoperation in 6 cases (12.77％),including one case of trigeminal nerve injury,one case of abducent nerve injury,one case of facial nerve dysfunction,one case of glossopharyngeal nerve injury,2 cases of paralysis and 2cases of hydrocephalus.Forty-one patients were followed up for 0.5 to 6 years.Eight patients (17.02％)had recurrence and 2 died. Conclusion Microneurosurgery can improve the total resection rate of intracranial cystic tumors with minimal invasion to neural functions.

OBJECTIVETo observe the expressions of E-cadherin and beta-catenin in LNCaP and ARCaP cell lines and explore their relationship with the metastasis of human prostate cancer.

METHODSThe expressions and distribution of E-cadherin and beta-catenin in LNCaP and ARCaP cell lines (IF11 and IA8) were detected by Western blot and immunofluorescent staining.

RESULTSThe expression of E-cadherin was high in LNCaP, but absent in IF11 and IA8, while beta-catenin was expressed highly in IF11 and LA8, but lowly in LNCaP. Immunofluorescent staining showed that E-cadherin was mainly in the membrane of LNCaP, while beta-catenin both in the membrane of LNCaP and in the nuclei of IF11 and IA8.

CONCLUSIONE-cadherin and beta-catenin are differently expressed and distributed in prostate cancer cell lines with different characteristics of epithelial-mesenchymal transition (EMT), and the abnormal activation of the beta-catenin signal pathway may be involved in the EMT of prostate cancer cells.

Cadherins ; metabolism ; Cell Line, Tumor ; Humans ; Male ; Prostatic Neoplasms ; metabolism ; pathology ; beta Catenin ; metabolism

OBJECTIVETo investigate the association of the rs4149601 polymorphisms of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and obesity in Xinjiang Kazakh population.

METHODSThe rs4149601 polymorphism of the NEDD4L gene was genotyped in a Xinjiang Kazakh general population including 856 subjects (aged 30 to 60 years, 478 obese and 378 control individuals).

RESULTSThe polymorphism was successfully genotyped in 853 Xinjiang Kazakh subjects. The distribution of the additive model and dominant model (AG+ AA vs. GG) of the rs4149601 polymorphism differed significantly between the case and control in both total and females (all P< 0.05). After adjusting for confounding factors, logistic regression analysis showed that the rs4149601 polymorphism (in dominant model) was significantly associated with obesity (OR= 1.479, 95% CI: 1.103-1.983, P= 0.009) in Kazakh. Covariate variance analysis showed that compared with subjects with AA + AG genotypes, the waist circumference was significantly higher in subjects with GG genotype after adjusting for age, smoking and drinking (P= 0.028).

CONCLUSIONThe genetic variations of the NEDD4L gene may be associated with obesity in Xinjiang Kazakh general population.

Adult ; Analysis of Variance ; China ; ethnology ; Endosomal Sorting Complexes Required for Transport ; genetics ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Hyperlipidemias ; genetics ; Hypertension ; genetics ; Male ; Middle Aged ; Nedd4 Ubiquitin Protein Ligases ; Obesity ; genetics ; Polymorphism, Genetic ; genetics ; Regression Analysis ; Ubiquitin-Protein Ligases ; genetics

The aim of this study was to investigate the parameters of gene frequencies, haplotype frequencies and linkage disequilibrium of HLA-A, -B, -Cw in HLA classical I loci for Chinese Han population. HLA-A, HLA-B and HLA-Cw loci were genotyped in 1014 unrelated China people using low resolution PCR-SSP typing method, and their genetic parameters were analyzed by statistic methods. The results indicated that among all the detected HLA-I genes, A*02 (0.33), A*11 (0.24), B*15 (0.14), B*13 (0.13), Cw*03 (0.25) and Cw*07 (0.18) were the popular gene groups distributing in Chinese Han population, and A*02-B*46 (0.071), A*11-B*15 (0.051), A*02-Cw*01 (0.084), A*11-Cw*03 (0.079), B*46-Cw*01 (0.095) and B*13-Cw*03 (0.071) were the predominant haplotypes in Han population. Additionally, A*02-B*46, A*30-B*13, A*30-Cw*06, A*02-Cw*01, B*46-Cw*01 and B*58-Cw*03 were statistically significant with strong linkage disequilibrium. While A*02-B*15, A*02-B*40, A*24-Cw*03, A*02-Cw*03 and A*31-Cw*03 were in low linkage disequilibrium, among them A*24-Cw*03 appeared frequently in HLA recombination events. In addition, A*02-B*46-Cw*01 (0.075), A*30-B*13-Cw*06 (0.046), A*11-B*13-Cw*03 (0.045), A*33-B*58-Cw*03 (0.044), A*11-B*15-Cw*08 (0.027), A*02-B*38-Cw*07 (0.023) and A*11-B*40-Cw*07 (0.022) were the main extended haplotypes in Han population. In conclusions, this study investigated systematically the genetic polymorphism features of Chinese Han population, which may provide useful genetic parameters for researches in colonial evolution, clinical transplantation and disease susceptibility.
Adult ; Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Female ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Polymorphism, Genetic

OBJECTIVETo analyze the distribution of genes in HLA-Cw locus from Han population of China in a large scale, and to provide basic data for further study on the genetic characteristics of HLA-Cw locus of this population.

METHODSTotally 1285 unrelated Chinese Han individuals were typed by PCR-SSP, and statistics was utilized to investigate the distribution rules of detected genes.

RESULTSTwenty-three HLA-Cw alleles were identified in Chinese Han population, out of them HLA-Cw*01, *03, *07 and *08 were the commonest genes, which accounted for frequencies of 0.1529, 0.2385, 0.1747 and 0.1004, respectively. Five genes which could not be identified by serological method were deaed: HLA-Cw*12, *14, *15, *16 and *17. Hardy-Weinberg test showed that the observed genetic polymorphism distribution values were correspondent with the expected (chi-square=73.74, df=98, P>0.5).

CONCLUSIONThis study may serve a full-scale scientific genetic parameters of HLA-Cw genes for Chinese Han population studies.

Adolescent ; Adult ; Aged ; Alleles ; Child ; Child, Preschool ; Female ; Gene Frequency ; HLA-C Antigens ; genetics ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Tissue Donors ; Young Adult

BACKGROUNDCoordinated regulation of nutrient and inflammatory responses by six transmembrane epithelial antigen of prostate 4 (STEAP4) was essential for metabolic homeostasis. STEAP4 expression in human white adipose tissue was associated with obesity. This study aimed to evaluate association between STEAP4 genetic polymorphisms and obesity in Uygur Chinese general population.

METHODSThe functional regions of STEAP4 gene were sequenced in 96 Uygur with obesity (body mass index (BMI) > 30 kg/m²). Representative variations were selected according to the function and linkage disequilibrium and genotyped in 1507 obesity (BMI ≥ 25 kg/m²) and 825 non-obesity control (BMI < 25 kg/m²), all of whom were selected from epidemiology study of obesity-related diseases during January to February 2007 among Uygur population in Hetian area of Xinjiang Uygur Autonomous Region.

RESULTSFourteen novel and 6 known single nucleotide polymorphism (SNPs), including 2 nonsynonymous SNPs (nsSNPs), in the STEAP4 gene were identified. Of the 3 representative SNPs, the nsSNP rs1981529 (Gly75Asp, 224A/G) was significantly associated with obesity phenotype (additive P/Pc = 0.001/0.006, dominant P/Pc = 0.003/0.018, odds ratio (OR) and 95% confidence interval (CI) adjusted for age, gender and drinking 0.755 (0.641 - 0.890) and 0.750 (0.621 - 0.907), respectively). By the multiple linear regression analysis, the quantitative phenotypes of BMI (P/Pc = 0.002/0.004) and waist circumference (P/Pc = 0.004/0.008) were found to be significantly associated with the genotypes of rs1981529 (Gly75Asp, 224A/G) in Uygur general population, and effect size (beta value) of one allele G of rs1981529 (Gly75Asp, 224A/G) was - 0.553 kg/m² for BMI and - 1.311 cm for waist circumference after controlling age, gender and drinking factors.

CONCLUSIONSThe present study shows an association of the common variation rs1981529 (Gly75Asp, 224A/G) in the STEAP4 gene with obesity in Uygur general population. Further studies should replicate the results using larger populations.

Adult ; Asian Continental Ancestry Group ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Linkage Disequilibrium ; genetics ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Obesity ; genetics ; Oxidoreductases ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Waist Circumference ; genetics