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 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

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 analyze the association between the genetic variations of functional region in neural precursor cell expressed developmentally down-regulated 4 ( NEDD4) gene and hypertension in Kazak Chinese in Xinjiang Uygur Autonomous Region.

METHODSThe sequences of NEDD4 gene functional region (all exons, exon-intron boundaries, and the putative promoter region, including the 5'- and 3'-untranslated regions 1 kb) were sequenced in Kazak Chinese patients with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 938 Kazak individuals, including 451 hypertensive patients and 487 normotensive subjects. The association between genetic variations of NEDD4 and hypertension in Kazak was analyzed.

RESULTSThirteen novel and 15 known single nucleotide polymorphism (SNPs) or mutations, including 7 missense mutations, were identified at the function region of NEDD4 gene in 94 Kazak patients with hypertension. In the nine representative variations genotyped, 4 rare missense mutations [77291T>G (S189R), 77748 C>T (R342W), 123925C>T (P152L), rs1912403 (76821A>G, M33V)] were not specific for the prevalence of hypertension; in addition, the distribution of 5 common SNPs [77943A>C (N407H), rs2303580 (132882G>A, R607Q), rs8028559 (154845T>C), rs7162435 (164420A>G), and rs11550869 (165622C>G)] and haplotypes were not significantly different between the hypertensive patients and normotensive subjects (P>0.05).

CONCLUSIONThe NEDD4 gene polymorphisms is no associated with hypertension in Kazak Chinese population.

Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Endosomal Sorting Complexes Required for Transport ; genetics ; Female ; Humans ; Hypertension ; genetics ; Male ; Middle Aged ; Minority Groups ; Nedd4 Ubiquitin Protein Ligases ; Polymorphism, Genetic ; Ubiquitin-Protein Ligases ; genetics

OBJECTIVETo explore the relationship between six-transmembrane epithelial antigen of prostate 4 (STEAP4) genetic polymorphisms and insulin resistance (IR) in Uygur Chinese general population.

METHODSIn this cross-sectional study on the metabolic diseases (e.g. obesity) among Uygur Chinese in Hetian, Xinjiang, China,from January to February 2007, 2127 Uygur individuals were enrolled. The sample size for IR subjects [homeostasis model assessment for insulin resistance (HOMA-IR) ≥2.3 65%] was 669, whereas that for non-IR controls was 664 (HOMA-IR≤1.335%). STEAP4 gene was sequenced in 50 Uygur Chinese individuals with IR (HOMA-IR≥2.3). The representative variations were selected from the population based on a r(2) cutoff of 0.8 and a minor allele frequency of >5% for case-control study.

RESULTSTotally 16 variations including 10 novel variations (no reported in dbSNP) were identified in 50 Uygur individuals with IR. 7414 G/A (rs8122)(P/Pc=0.004/0.012)and 224A/G (rs1981529, Gly75Asp)(P/Pc=0.015/0.045)variations were significantly correlated with IR phenotype in Uygur subjects. As shown by multiple linear regression analysis, the mean values of waist circumference (WC) (P/Pc=0.032/0.256), body mass index (BMI) (P/Pc=0.004/0.032), HOMA-IR (P/Pc=0.010/0.08), and fasting insulin (P/Pc=0.023/0.184) among A (protection) allele carriers of rs8122 and the mean values of WC (P/Pc=0.005/0.040) and BMI (P/Pc=0.002/0.016) among G (protection) allele carriers of rs1981529 gradually declined. Haplotype 1 (rs8122 G- rs1981529 A- rs34741656 G) was significantly associated with a higher prevalence of IR (Permutation P=0.021).

CONCLUSIONSTEAP4 genetic variations are likely to be associated with obesity-related insulin resistance in Uygur Chinese general population.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; epidemiology ; Cross-Sectional Studies ; Ethnic Groups ; genetics ; Female ; Humans ; Insulin Resistance ; genetics ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Oxidoreductases ; genetics ; Polymorphism, Genetic ; Young Adult

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