Objectives To investigate the expression and clinical significance of HOXA10 gene in the eutopic and ectopic endometrium of endometriosis.Mehtods Between Jan.2009 to Aug.2010,30 patients with endometriosis undergoing laparoscopic surgery in Maternal and Children's Hospital of Foshan.Eutopic and ectopic endometrium were obtained.In the mean time,30 patients with benign ovary cyst or tubal infertihty undergoing laparoscopic surgery were selected as controls.Their uterine endometrium were obtained real-time fluorescent quantitation,western blot and immunohistochemistry technique were used to detect mRNA and protein expression of HOXA10 gene in the eutopic endometrium group,ectopic endometrium group and control group.Results The mRNA and protein expression of HOXA10 gene were 0.61 ±0.07 and 0.47 ±0.05 in the eutopic endometrium of endometriosis,0.64 ±0.06 and 0.50 ±0.05 in ectopic endometrium of endometriosis,which were significantly lower than 1.22 ± 0.14 and 1.42 ± 0.14 in control group ( P ＜ 0.01 ).However,the mRNA and protein expression of HOXA 10 between eutopic and ectopic endometrium of endometriosis did not reach statistical difference ( P ＞ 0.05 ).The expression of HOXA10 in eutopic and ectopic endometrium of endometriosis were decreased by immunohistochemistry staining.Conclusion The lower expression of HOXA10 gene in the eutopic and ectopic endometrium of endometriosis might be associated with pathogenesis and infertility of endometriosis.

Purpose To compare the pathological differences between cervical high-grade intraepithelial lesions (CHGIL) positive resection surgical margin after cold knife conization and total hysterectomy,and to explore how to take further clinical treatment measures.Methods The pathologic results of 74 patients with CHGIL positive surgical margin after cold knife conization and hysterectomy were analyzed retrospectively.Results There was a correlation between positive cervical incision margin and residual uterine lesion (P ＜ 0.01).Age,menopause status,gland involvement did not related to residual uterine lesions(P ＞ 0.05).There was significant correlation between the lesion-related quadrant and the residual rate of uterine lesion (P ＜ 0.01).Conclusion Cold knife conization and hysterectomy are safe and effective treatments for CHGIL.However,for the positive resection surgical margin after cold knife conization cases,hysterectomy should be carefully chosen and may choose conservative treatment or re-cone cutting.

Objective To investigate the invasion situation of cardinal ligaments(CL) in stage Ⅰ A2 - ⅡA2 cervical cancer and to find the high risk clinicopathological factors affecting its invasion .Methods The retrospective analysis was performed on the clinicopathological data in 2 982 patients with cervical cancer treated by operation extracted in 5 hospitals from January 2004 to De‐cember 2014 .Results (1) Totally 855 cases according with the research condition were included .The CL invasion was found in 20 cases(2 .3% ) .No CL invasion occurred in the stage ⅠA2 ,the CL invasion rate in the stage ⅠB1 was 1 .7% ,in the stage ⅠB2 was 1 .2% ,in the stage ⅡA1 was 5 .7% and in the stage ⅡA2 was 2 .9% .With the increase of FIGO staging ,the CL invasion rate had no significant increase(P=0 .269) .(2) The infiltration rate of left CL and right CL had no statistical difference among the stageⅠA2- ⅡA2(P=1 .000) .And the invasion rate of the left CL with different FIGO stages had no statistical difference(P=0 .286) , while the right one had statistical difference(P=0 .005) ,in which the highest was in the stage ⅡA1 (4 .3% ) .(3)The univariate a‐nalysis found that lymph‐vascular invasion ,cervical stroma infiltration depth ,pelvic lymph node metastasis ,uterus body infiltration and vaginal fornix infiltration were the risk factors of CL invasion(P<0 .01);the further multivariate analysis determined that the invasion of uterine body(OR=11 .858) ,pelvic lymph node metastasis(OR=6 .359 ,) ,vaginal fornix infiltration(OR=6 .012 ,) were the risk factors for CL invasion(P<0 .05) .Conclusion The invasion rate of CL invasion in early stage cervcial cancer is low .The invasion of uterine body ,pelvic lymph node metastasis and vaginal fornix filtration are the risk factors for CL invasion in the stageⅠA2- ⅡA2 cervical cancer .

OBJECTIVETo identify potential mutation of TRAPPC2 gene in a Chinese family affected with X-linked spondyloepiphyseal dysplasia tarda (X-SEDL), and explore its underlying molecular mechanism.

METHODSPeripheral blood samples were collected from 32 members of the family and 50 healthy adults to extract genomic DNA. DNA sequences of exons 3 to 6 and their exon/intron boundaries were amplified with PCR amplification. Direct bi-directional sequencing analysis was performed on the PCR products. The sequences were aligned to the reference sequences from the GenBank to determine mutation site and type.

RESULTSA nucleotide substitution of the splice-donor in TRAPPC2 intron 3, c.93+5G>A, was detected in the proband, but no sequence change was detected in TRAPPC2 exons 3 to 6. All of the 6 male patients and 8 female carriers from the family were detected to have carried this mutation. The same mutation was not found in the remaining 18 family members with a normal phenotype and 50 healthy controls.

CONCLUSIONWe have detected a c.93+5G>A mutation in the TRAPPC2 gene in a Chinese family affected with X-SEDL. Our results have expanded the spectrum of TRAPPC2 mutations and is helpful for presymptomatic and prenatal diagnoses of this disease.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; China ; DNA Mutational Analysis ; Exons ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Introns ; Male ; Membrane Transport Proteins ; genetics ; Molecular Sequence Data ; Osteochondrodysplasias ; genetics ; Pedigree ; Transcription Factors ; genetics

OBJECTIVE: To analyze deafness gene mutations by genechip. METHOD: The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. The deafness gene mutations were distinguished by genechip. RESULT: Among 42 patients with non-syndromic hearing loss, GJB2 235delC was found in 11 cases (7 cases were homozygosis, 4 cases were heterozygosis); 4 cases were shown to carry the PDS IVS7-2A>G mutation. CONCLUSION The incidence of GJB2 gene and PDS IVS7-2A>G mutations among the deaf- mute children in Guiyang city is 38.10%. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
Adolescent ; Child ; Child, Preschool ; China ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Genetic Testing ; Humans ; Infant ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Sulfate Transporters ; Surveys and Questionnaires ; Young Adult

Objective To determine the levels of plasma M-CSF in cervical cancer patients and cervical intraepitheliai neoplasia(CIN)patients,and to discuss the diagnostic utility of M-CSF in the development of cervi-cal cancer. Methods Forty-nine cases of cervical cancer,60 cases of CIN and 40 healthy controls were selected from June 2014 to June 2016. Plasma levels of M-CSF and SCC-Ag were determined by using ELISA and MEIA, respectively. Results Significantly different concentrations of M-CSF and SCC-Ag were observed in patients with cervical cancer compared to the healthy controls and CIN patients(P<0.01,respectively). Significant difference in plasma M-CSF level between the healthy controls and benign lesion patients were also found(P<0.05).However, no significant difference in SCC-Ag was found between the healthy controls and benign lesion patients. SCC-Ag combined M-CSF could obviously increase the detection rate of cervical cancer,without increasing the false posi-tive rate. The level of M-CSF in patients with cervical cancer and high grade of CIN reduced to the normal level, with significant difference before and after surgery(P<0.05).Meanwhile,the level of SCCAg in CIN patients was significantly reduced before and after surgery(P<0.05).Conclusions This study suggests the potential utility of M-CSF as a good candidate for a serum marker of cervical cancer,as well as benign lesions of this organ(CIN), and M-CSF may also be use to predict the outcome of CIN.

Objective To evaluate the survival and prognostic factors of esophageal cancer treated with definitive ( chemo ) radiotherapy by applying novel radiation techniques including three-dimensional conformal radiotherapy (3DCRT) or intensity-modulated radiotherapy (IMRT). Methods Clinical data of 2762 patients with non-operated esophageal squamous cell carcinoma who underwent definitive ( chemo ) radiotherapy from 2002 to 2016 in 10 hospitals were retrospectively analyzed.The prognostic factors were also identified and analyzed. Results The median follow-up time was 60. 8 months. The 1-, 2-, 3-and 5-year overall survival (OS) of all patients was 71. 4％,48. 9％,39. 3％,and 30. 9％,respectively.The 1-,2-,3-and 5-year progression-free survival (PFS) was 59.5％,41.5％,35.2％,and 30％,respectively.The median survival was 23 months.The median time to progression was 17. 2 months.Multivariate analysis demonstrated that age, primary tumor location, clinical stage, tumor target volume, EQD2 and treatment mode were the independent prognostic factors for OS.Primary tumor location,clinical stage,tumor target volume and EQD2 were the independent prognostic factors for PFS. Conclusions In this first large-scale multi-center retrospective analysis of definitive ( chemo) radiotherapy for esophageal squamous cell carcinoma in China, the 5-year OS of patients with esophageal squamous cell carcinoma is significantly improved by 3DCRT, IMRT combined with chemotherapy drugs. However, the findings remain to be validated by prospective clinical trials with high-level medical evidence.