Objective To investigate the manifestations and genetic mechanisms of male sex reversal syndrome. Methods A 22 year old male patient with 46,XX karyotype was systemically examined and a Y specific sequence tagged site (STS),sY14,was chosen to detect sex determining region of Y (SRY) gene by polymerase chain reaction (PCR). Results This patient shows primary and secondary male sex characters while gonads are hypoplastic and malfunctional.The patent has 46,XX karyotype and SRY gene.Therefore,the patient is diagnosed as 46,XX male sex reversal syndrome. Conclusions Translocation of SRY can bring about 46,XX male sex reversal syndrome,whereas gonads of the patients are hypoplastic and malfunctional because of the absence of other genes on Y chromosome.SRY gene plays an important role in sex determination.

Objective To construct directional expressing cDNA library from normal testes in Chinese males for further studying the structure and functions of spermatogenesis related genes. Methods mRNA of normal testes from a Chinese male was isolated and the cDNA synthesized by reverse transcription.After being digested by SalI and NotI ,dscDNA was subcloned into expressing plasmid pSPORT1 directionally.Finally,the directional expressing cDNA library from normal testes in Chinese males was constructed. Results The transformation rate of the library was 7?10 5.Ten clones were chosen and analysed. Digested by SalI and NotI ,the fragments of 0.5～2.0 kb were obtained with cDNA inserted. Conclusions The present study indicates that the directional expressing cDNA library from normal testes in Chinese males is qualified to screen genes and is considered to be helpful for studying the structure and functions of spermatogenesis related genes.

Objective To investigate the condition of microdeletions of AZF region of the Y chromosome in Chinese patients with spermatogenetic malfunction. Methods Six Y chromosome specific sequence-tagged-sites(STS) in AZF region were screened and the microdeletions were determined by PCR in 27 patients with spermatogenetic malfunction. Results Microdeletions in genomic DNA were observed in 2 cases who presented with azoospermia and limited to AZFc subregion.The total deletion rate was 7.4%.The deletion patterns of the 2 cases were DAZ(sY254,sY255) and DAZ plus sY157,respectively. Conclusions Like other races, microdeletions of the Y chromosome in Chinese people may be one of the causes of spermatogenetic malfunction.Therefore prior to assistant reproduction,screening for microdeletions of the Y chromosome in patients with spermatogenetic malfunction is necessary.

Adult ; Drowning ; Humans ; Hydrogen Sulfide ; poisoning ; Male ; Radiography, Thoracic ; X-Ray Film ; Young Adult

Adolescent ; Amblyopia ; genetics ; Child, Preschool ; Female ; Finger Joint ; pathology ; Hearing Loss, Conductive ; congenital ; genetics ; Humans ; Male ; Pedigree ; Young Adult

PURPOSE: With the process of neoangiogenesis being linked to the growth and metastasis of various tumors, anticancer therapeutics with a basis in the suppression of neoangiogenesis has recently been receiving attention. In this study, we tried to clarify the immunoreactivities of vascular endothelial growth factor (VEGF), major angiogenic inducer and thrombospondin-1 (TSP-1), major angiogenic inhibitor in human Wilms' tumor and its clinicopathological significance. MATERAILS AND METHODS: Utilizing immunohistochemical staining, we assessed the immunoreactivities of VEGF and TSP-1 in archival tissues of 29 Wilms' tumors and 25 normal kidneys. Also, we assessed the relationship between expression of each factor and clinicopathological parameters in 29 cases of Wilms' tumors. RESULTS: Immunoreactivities of VEGF and TSP-1 were detected mainly in the cytoplasm of the tubular cells in normal kidneys. In Wilms' tumors, whereas VEGF was detected in the cytoplasm of the tumor cells and peritumoral stromal tissues, but TSP-1 only in the peritumoral stromal tissues. Immunohistochemical expression patterns of each factor were divided into two groups according to the area of immunoreactivity (negative:<10%, positive: > OR =10%). VEGF immunoreactivity was detected in 25 (100%) normal kidneys and in 20 (69%) Wilms' tumors. However, TSP-1 immunoreactivity was detected in 24 (97%) normal kidneys and in 3 (10%) Wilms' tumors. Therefore, although no significant difference was observed between the expressions of VEGF and TSP-1 in normal kidney, the TSP-1 immunoreactivity was significantly lower than VEGF immunoreactivity in Wilms' tumors. A relatively higher rate of positive expression of TSP-1 was observed in the patients with no demonstrable lymph node metastasis. Also, as for the VEGF, maximal diameter of the tumor was larger in the positive expression group. However, it proved otherwise for TSP-1 as the negative expression group demonstrated tumors with larger maximal diameters. CONCLUSIONS: Our study demonstrated that the TSP-1 immunoreactivity was significantly lower than VEGF immunoreactivity in Wilms' tumors, and disease progression has a tendency to be found in the VEGF-positive cases and TSP-1 negative cases. We suggest that the growth and metastasis of Wilms' tumor may be influenced mainly by TSP-1 decrease rather than VEGF increase.
Cytoplasm ; Disease Progression ; Humans ; Kidney ; Lymph Nodes ; Neoplasm Metastasis ; Thrombospondin 1 ; Vascular Endothelial Growth Factor A* ; Wilms Tumor*

Objective To investigate the clinical effect of modified storage type of autologous blood transfu-sion combined with shed blooding retransformation technique after OrthoPAT for artificial total knee arthroplasty. Methods 70 patients with total knee replacement were randomly divided into observation group and control group, 35 cases in each group.The observation group was treated with the modified storage autotransfusion combined shed blooding retransformation technique after OrthoPAT,while the control group was given conventional allogeneic blood transfusion.The hemoglobin values and blood coagulation function of the two groups at immediately before anesthesia and surgery,10min before autologous blood transfusion and after reinfusion of 15min,after 6h and 24h of surgery were recorded,and the drainage blood total value,allogeneic blood transfusion measurement issues and transfusion rate after 24h were recorded.Results The hemodynamics of the two groups were stable at each time,there were no difference at urine volume (all P >0.05).The coagulation conditions were normal of the two groups at each time,there were no statistically significant differences between the two groups (all P >0.05).The average volume and homologous blood transfusion rate in the observation group were (126.3 ±6.5)mL,1 /35,which were significantly lower than those in the control group [(476.4 ±10.6)mL,2 /35],the differences were statistically significant (t =10.73,χ2 =6.31,all P <0.05).The incidence rate of postoperative complication of the observation group was 5.7%,which was signifi-cantly lower than 22.9% of the control group,the difference between the two groups was statistically significant (χ2 =4.93,P <0.05).Conclusion The improved storage type of autologous blood transfusion combined with shed bloo-ding retransformation technique after OrthoPAT has exact effect for artificial total knee arthroplasty,the incidence of adverse reactions is low,as well as the low blood transfusion rate.

Objective To study the effect of total knee arthroplasty after limb position on postoperative hemorrhage,to provide basis for clinical diagnosis and treatment.Methods 270 cases of total knee arthroplasty were selected.The patients were divided into groupⅠ,group Ⅱand group Ⅲ according to the random number table method, 90 cases in each group.Patients of group Ⅰ with limb hip and knee were straight,group Ⅱ hip joint elevation of 45 degrees,70 degrees of knee flexion,group Ⅲ hip joint elevation of 45 degrees,the knee extension.All the patients were intervened for 12h after operation,were placed drainage bag 24 hours.The lead flow,preoperative,postoperative hemoglobin and 5 days after the knee joint activity were compared in the three groups.Results Induced flow after surgery in group Ⅰ was (433.4 ±25.3)mL,which was significantly higher than (402.6 ±19.6)mL and (403.5 ± 21.5)mL in group Ⅱand group Ⅲ,and the differences were statistically significant (t =5.253,5.301,all P <0.05),there was no significant difference of induced flow between groupⅡ and group Ⅲ(P >0.05).The hemoglobin levels of the three groups were (92.3 ±4.2)g/L,(114.9 ±6.4)g/L and (113.2 ±7.5)g/L,which were significantly decreased after operation,the differences were statistically significant compared with before operation (t =5.083, 6.034,7.893,all P <0.05),the hemoglobin after surgery of group Ⅰ was significantly lower than group Ⅱ and groupⅢ,the differences were statistically significant (t =6.423,7.043,all P <0.05),there was no significant difference between group Ⅱ and group Ⅲ (P >0.05).There was no significant difference of range of motion in the three groups after 5 days of operation (P >0.05).Conclusion Hip flexion can effectively reduce bleeding after total knee arthro-plasty,the flexion and extension of knee joint had no significant effect on postoperative hemorrhage.

Objective:To compare two flexible embryo catheters and determine whether clinical out-come differs in the in vitro fertilization-embryo transfer (IVF-ET)cycles.Methods:This prospective control study was conducted by one doctor between July 2012 and November 2013.In the study,2 064 patients undergoing fresh embryo transfer by using IVF-ET/intracytoplasmic sperm injection (ICSI)-ET in Reproductive Medical Center of Peking University Third Hospital were recruited.The subjects were di-vided into two groups.Cook Sydney IVF embryo transfer catheters (product model:K-JETS-7019-SIVF) were used for embryo transfer in group 1 (n =949),and FrydmanCCD catheters (product model:131230301)were used in group 2 (n =1 115).Pregnancy outcomes were compared between these two groups.Results:There was no significant difference in age,diagnosis for infertility and stimulation proto-col used between the two groups.In addition,there was no difference in the number of oocytes collected and in the number and score of embryos transferred.The significantly higher implantation rate,clinical pregnancy rate,and live birth rate (34.40% vs.26.92%,51.21% vs.41.52%,42.57% vs. 33.09%,P <0.05)were observed in group 1 compared with group 2.The abortion rate was not signifi-cantly different between the two groups (11.93% vs.15.98%,P >0.05).The proportion of difficult transfer was higher in group 1 than that in group 2 (5.27% vs.3.41%,P <0.05 ).There was no difference in the clinical pregnancy rate and live birth rate between the two difficult transfer cycles.Con-clusion:The type of embryo transfer catheter affects the clinical outcome in IVF.Good clinical outcome can be obtained by using Cook Sydney IVF catheter,which is worthy of clinical promotion.