Objective To explore the relationship between serum omentin, C1q/tumor necrosis factor-related protein-9 (CTRP9), and visceral fat-specific serine protease inhibitor (vaspin) levels in different phenotypes in patients with polycystic ovary syndrome (PCOS). Methods One hundred PCOS patients treated at our hospital's clinic of reproductive medicine were chosen and included into the research group, and 100 healthy women who came for physical examination during the same time period were included into the control group. According to the definition of obesity by the WHO (body mass index (BMI) ≥25 kg/m2), 100 patients with PCOS were equally divided into obese (study group A) and nonobese (study group B) groups. 100 healthy women were also divided into obese (control group A) and nonobese (control group B) groups with 50 patients each. Comparison among the 4 groups was performed in factors/indicators including the serum omentin, CTRP9, and vaspin levels and biochemical indexes (triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), fasting insulin (FINS), total testosterone, and homeostasis model assessment of insulin resistance (HOMA-IR) levels), and the correlation analysis was conducted with omentin, CTRP9, and vaspin. Results There was no significant difference in age, TG, TC, and LDL-C among the 4 groups (P > 0.05). The BMI, WHR, HDL-C, and omentin of the obese phenotype were significantly different from those of the nonobese phenotype (P < 0.05). Among the four groups, FINS, HOMA-IR, and vaspin in group A (obesity) was the highest, and the control group B (nonobese) was the lowest. There was no significant difference in the levels of study group B (nonobese) and control group A (obesity). The level of CTRP9 in the study group was significantly lower than that in the control group (P < 0.05). Taking serum omentin, CTRP9, and vaspin levels of patients in the study group as dependent variables, Pearson correlation analysis showed that the omentin level was negatively correlated with BMI, WHR, FINS, TG, TC, LDL-C, HOMA-IR, and TT levels (P < 0.05) and was positively correlated with the HDL-C level (P < 0.05); CTRP9 level was negatively correlated with BMI, TC, and HOMA-IR (P < 0.05) and was not correlated with age, WHR, FINS, TG, HDL-C, LDL-C, HOMA-IR, and TT levels. The vaspin level was positively correlated with BMI, WHR, FINS, TG, TC, LDL-C, HOMA-IR, and TT levels (P < 0.05) and negatively correlated with HDL-C levels (P < 0.05) and was not correlated with age. Conclusion When compared with healthy people, PCOS patients have higher serum vaspin levels and lower CTRP9 levels; BMI, TC, LDL-C, FINS, TG, total testosterone, HDL-C levels, waist-to-hip ratio, and HOMA-IR are all closely related to serum vaspin and CTRP9 levels; increasing serum CTRP9 levels and decreasing vaspin levels help to slow progress and promote prognosis of the disease. Serum omentin level is connected with the obesity index but not with PCOS.

Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the causal gene mutation sites in a family with nonsyndromic oligodontia, whole-exome sequencing (WES) was performed to seek the causative locus of the family. The candidate mutation was further identified by Sanger sequencing afterward. Two mutations of MSX1 were found both in the proband and her mother. One novel heterozygous missense mutation (c.C667G, p.R223G) of MSX1 inherited from the asymptomatic mother with mosaic mutation was located in the highly conserved fragment of exon 2. The other was a synonymous mutation (c.C348T, p.G116G) in exon 1, which had been reported. The novel maternal heterozygous missense mutation (c.C667G, p.R223G) was likely to be the major reason for nonsyndromic oligodontia in the family. This is the first mosaic variant that has been recorded of the MSX1 gene. Our study expands the phenotype-genotype correlation associated with MSX1 variants. Our study also suggests that the determination of the mosaicism is essential for precise genetic counseling if a disease appears to arise de novo.

BACKGROUND:DNA damage, caused by numerous carcinogens, contributes to the increased risk of different types of cancer. The base excision repair (BER) pathway including the apurinic/apyrimidic endonuclease (APE1, also known as APEX1) gene plays an important role in preventing the accumulation of DNA damage and maintaining genomic stability. The aim of the present study is to determine whether polymorphisms of APE1 are associated with the risk of prostate cancer (PCa) in the Chinese Han population.METHODS:This study consisted of 198 patients with PCa and 156 healthy controls. The polymorphisms of APE1, Asp148Glu (rs1130409) and -141T/G (rs1760944) were determined by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.RESULTS:The genotypic distributions of the two polymorphisms in controls were in Hardy-Weinberg equilibrium (p = 0.92 and p = 0.83, respectively). Logistic regression analysis indicated that the -141GG genotype was significantly associated with a decreased risk of PCa compared with the -141TT genotype (p = 0.03; OR 0.49; 95% CI 0.26 - 0.92). The G allele was also significantly associated with a reduced risk of PCa compared with the T allele (p = 0.02; OR 0.71; 95% CI 0.52 - 0.96). However, no association between Asp148Glu polymorphism and the risk of PCa was found.CONCLUSIONS:The -141GG genotype and G allele of the APE1 gene are associated with a decreased risk of PCa in the Chinese Han population.

OBJECTIVE:To investigate the clinical presentation, pathologic features, treatment and prognosis of prostatic paraganglioma.METHODS:We retrospectively studied a case of prostatic paraganglioma and reviewed relevant literature. The patient was a 39-year-old man, admitted for repeated hematospermia for over 12 months. After misdiagnosed as having prostate cancer, he underwent suprapubic prostatectomy, with the tumor completely removed.RESULTS:Postoperative pathological examination confirmed the tumor to be prostatic paraganglioma, which was non-functional, with the immunohistochemical results of NSE (+), CGA (+), S100 (+), CK (-) and Desmin (-). Postoperative blood pressure was stable. Two weeks after surgery, the urethral catheter was removed and the patient discharged. No recurrence was found during 48 months of follow-up.CONCLUSION:Lacking specific clinical characteristics, paraganglioma of the prostate is easily misdiagnosed, and can be confirmed only by postoperative pathology and immunohistochemistry. For the treatment of this rare tumor, little experience has been accumulated, and further studies are needed.

Objective To explore the clinical and histopathological features of metanephric adenoma (MA). Methods Clinical and pathological data of 10 cases of MA were analyzed retrospectively.There were 4 males and 6 females,aged from 33 to 65 years,with an average of 45 years.2 patients had flank pain,4 patients had gross hematuria,and 4 patients were found by physical examination.The average diameter of tumor was 4.5 cm (2.5 - 8.0 cm).All patients were diagnosed as renal tumor by CT scan.9 patients underwent radical nephrectomy and 1 patient underwent partial nephrectomy. Results Pathological examination found that the tumors are composed of densely packed small uniform cells with regular nuclei that formed a tubular or adenoid pattern.Mitotic figures were absent or rare.4 patients were diagnosed as MA,2 cases were diagnosed as low-grade malignant MA,and 4 cases were diagnosed as MA with malignant component (2 cases of adenocarcinoma,1 case of chromophobe cell carcinoma,and 1 case of well differentiated papillary adenocarcinoma),7 cases were followed up for 22 months ( 10 to 34 months) without recurrence or metastasis. Conclusions MA is very rare benign renal tumor originating from epithelium,and a few are malignant,and some may contain malignant ingredients.Nephron-sparing surgery and radical nephrectomy are eligible for the treatment of MA.Considering the uncertainty of the biological behavior and cellular origin of MA,a long-term follow-up is necessary.

Homeobox (Hox) genes encode homeodomain-containing transcription factors critical to development, differentiation, and homeostasis. Their dysregulation has been implicated in various cancers. In the present study, we show that HoxB3 mRNA and protein are overexpressed in primary prostate cancer tissues compared to the adjacent normal prostate tissues. Moreover, HoxB3 overexpression is associated with higher Gleason grade (⩾7) (P=0.002), clinical stage (P<0.001) and PSA level (⩾10) (P=0.013). The Kaplan and Meier analysis showed that HoxB3 overexpression predicts poor survival outcome. Overexpression of HoxB3 promotes LNCaP cells proliferation and migration in vitro. Furthermore, depletion of HoxB3 in PC-3 cells decreased the capacity of proliferation in a cell division cycle associated 3 (CDCA3)-dependent manner both in vitro and in vivo. The ChIP analysis indicates that HoxB3 can bind to the CDCA3 promoter region and transactivate the CDCA3 expression. These data suggested that HoxB3 promote prostate cancer progression by upregulating CDCA3 expression and may serve as a potential therapeutic target for human prostate cancer.