The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population / 亚洲男科学杂志(英文版)

The stromal antigen 3 (STAG3) gene, encoding a meiosis-specific cohesin component, is a strong candidate for causing male infertility, but little is known about this gene so far. We identified STAG3 in patients with nonobstructive azoospermia (NOA) and normozoospermia in the Korean population. The coding regions and their intron boundaries of STAG3 were identified in 120 Korean men with spermatogenic impairments and 245 normal controls by using direct sequencing and haplotype analysis. A total of 30 sequence variations were identified in this study. Of the total, seven were exonic variants, 18 were intronic variants, one was in the 5'-UTR, and four were in the 3'-UTR. Pathogenic variations that directly caused NOA were not identified. However, two variants, c.3669+35C>G (rs1727130) and +198A>T (rs1052482), showed significant differences in the frequency between the patient and control groups (P = 0.021, odds ratio [OR]: 1.79, 95% confidence interval [CI]: 1.098-2.918) and were tightly linked in the linkage disequilibrium (LD) block. When pmir-rs1052482A was cotransfected with miR-3162-5p, there was a substantial decrease in luciferase activity, compared with pmir-rs1052482T. This result suggests that rs1052482 was located within a binding site of miR-3162-5p in the STAG3 3'-UTR, and the minor allele, the rs1052482T polymorphism, might offset inhibition by miR-3162-5p. We are the first to identify a total of 30 single-nucleotide variations (SNVs) of STAG3 gene in the Korean population. We found that two SNVs (rs1727130 and rs1052482) located in the 3'-UTR region may be associated with the NOA phenotype. Our findings contribute to understanding male infertility with spermatogenic impairment.

Effect of Garcinia mangostana L. and propolis extracts on the inhibition of inflammation and alveolar bone loss in ligature-induced periodontitis in rats

The purpose of this study was to evaluate the effect of mangosteen extract complex (MEC; Garcinia mangostana L. and propolis extracts) on the inhibition of inflammation and prevention of alveolar bone loss using a ligature-induced periodontitis model. Rat molars were ligatured with silk, and 1 µg/mL of lipopolysaccharide of Porphyromonas gingivalis was injected into the buccal and palatal gingivae of the teeth with or without treatment with the MEC. Changes in the expression levels of prostaglandin E₂ (PGE₂), interleukin-8 (IL-8), inducible nitric oxide synthase (iNOS), matrix metalloproteinase-8 (MMP-8), cyclooxygenase (COX)-1, and COX-2 in gingival tissues were evaluated using enzyme-linked immunosorbent assays. Alveolar bone loss around the ligated molars was examined using micro-computed tomography. The expression levels of PGE₂, IL-8, iNOS, MMP-8, COX-1, and COX-2 in gingival tissues were significantly reduced in the group treated with a mixture of 16 µg of mangosteen extract powder and 544 µg of propolis extract powder (ligation [Lig] + lipopolysaccharide extracted from P. gingivalis KCOM 2804 [L] + MEC 1:34). Additionally, alveolar bone loss was significantly reduced in the Lig + L + MEC 1:34 group compared with that in other groups. These results indicate that the MEC could be useful in preventing and treating periodontitis.

A Case of Sarcomatoid Cholangiocarcinoma Which Developed at the Site Previously Treated by Transarterial Chemoembolization

Intrahepatic sarcomatoid carcinoma is a rare tumor with poor prognosis due to its highly invasive and metastatic nature and difficulty for early detection. The most common form of intrahepatic sarcomatoid carcinoma is the sarcomatoid hepatocellular carcinoma, the development of which is usually associated with previous treatment for hepatocellular carcinoma. In contrast, sarcomatoid cholangiocarcinoma is extremely rare and results from spontaneous sarcomatoid transformation during the development of tumor. Here, we report a case of sarcomatoid cholangiocarcinoma, in a 58-year-old male, which developed at the site of previous treatment for hepatocellular carcinoma. A 9 × 7 cm sized tumor which had not been detected in the computed tomography exam 3 months before diagnosis was newly observed. The tumor rapidly progressed and the patient died only 31 days after the diagnosis.

Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women

PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1 genes of 1,408 women were analyzed by polymerase chain reaction and Southern blot analysis. To estimate the prevalence of expansion alleles, the individuals were divided into low risk and high risk group. RESULTS: Within this population, 98.4% had normal alleles and 1.6% had abnormal alleles including intermediate (0.6%), premutation (0.5%), full mutation (0.1%), and hemizygous (0.4%) alleles. There were 2 premutation alleles (1:666, 95% confidence interval [CI] 1:250-1,776) in the low risk group and 5 premutation alleles (1:15, 95% 1:6-36) in the high risk group. There were 8 intermediate alleles (1:167, 95% CI 1:130-213) in the low risk group and 1 intermediate alleles (1:76, 95% CI 1:11-533) in the high group. Six of the 7 premutation alleles did not contain AGG interruptions within the repeats and 1 had a single AGG interruption. Four of the 9 intermediate alleles contained 2-3 AGG, 4 had a single AGG, and 1 had no AGG interruptions. CONCLUSION: Our study demonstrates the prevalence and CGG/AGG structure of expansion alleles in Korean women. The identified premutation prevalence is higher than that of other Asian populations and lower than that of Caucasian populations. Although our study is limited by size and population bias, our findings could prove useful for genetic counseling of preconceptional or pregnant women.

A Study of Relationship of Atheroembolic Risk Factors with Postoperative Recovery in Renal Function after Partial Nephrectomy in Patients Staged T1-2 Renal Cell Carcinoma during Median 4-Year Follow-up / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The objective of this study is to evaluate the relationship of atheroembolic risk factors with postoperative recovery of renal function after on-clamp partial nephrectomy (PN) with warm ischemia in patients with staged T1-2 renal cell carcinoma (RCC). MATERIALS AND METHODS: A total of 234 patients from 2004 to 2012 were included, and their clinicopathologic and operative parameters, including atheroembolic risk factors were reviewed retrospectively. Renal function, as determined by estimated glomerular filtration rate (eGFR) and measurement of serum creatinine level (Cr) at each scheduled follow-up for a median four years, was compared between the high-risk (HR) group (n=49, > or = five risk factors) and the low-risk (LR) group (n=185, < five risk factors). RESULTS: Except for baseline renal function and number of risk factors for atheroembolism, differences in characteristics between groups were comparatively insignificant. At 3 months after the operation, Cr and eGFR differed significantly between the two groups (p < 0.05), but no differences were observed afterward. Significant deterioration from baseline in Cr and eGFR was observed in both groups at 1 month after the operation, with a greater change in the HR group (p < 0.05). From measurement to measurement, significantly faster deterioration in Cr and eGFR was observed in the HR group than in the LR group until 6 months after the operation (Cr: LR, 0.02 mg/dL and HR, 0.13 mg/dL; eGFR: LR, 1.50 mL/min/1.73 m2 and HR, 6.38 mL/min/1.73 m2; p < 0.05). CONCLUSION: The presence of atheroembolic risk factors may negatively influence postoperative recovery of renal function after PN in patients with localized RCC.

Total Hip Arthroplasties with High Dislocation in Tuberculous Hip and Developmental Dysplasia of the Hip / 대한정형외과학회잡지

PURPOSE: To confirm the effect of the frog leg lateral radiographs for determining the clinical indication of total hip arthroplasty for high riding dislocation and to discuss its theoretical background. MATERIALS AND METHODS: A consequent series of reconstructive THA were studied in 28 recent tuberculous hips. Twenty-three hips (17patients) with developmental dysplastic hip were compared. Preoperatively, frog-leg lateral radiographs were performed in all the patients, which were enhanced using a 2-dimensional computer model to predict the reattachment of the greater trochanter. RESULTS: The modified scores of Merle d'aubigne and Postel improved from a mean of 2.6 points preoperatively to a mean of 5.1 points. Sciatic nerve palsies occurred in three cases. In two cases, they fully recovered, but in one case, it did not. We confirmed that old high dislocation of the hip could be adopted in type 1 and 2 categories of frog leg lateral position. The reconstruction of hip was relatively simple in type 3, however, further study is necessary in type 5 due to unsuitable abduction contracture. CONCLUSION: We confirm that frog leg lateral radiography is effective for determining the operative indication of high riding dislocation. However irreducible frog leg lateral position is absolutely contraindirated for total hip arthroplasty.

Characteristics of Unilateral Cryptorchid Testes Treated by Orchiectomy : Analysis of 78 Cases / 대한비뇨기과학회지

No abstract available.

A Case of Unilateral Ectopic Scrotum with Cryptorchidism / 대한비뇨기과학회지

Ectopic scrotum is extremely rare and refers to the anomalous position of one hemiscrotum along the inguinal canal. Only two cases of ectopic scrotum have been reported in Korea. We experienced a case of unilateral ectopic scrotum with crytorchidism. The penis showed normal in appearence. The ectopic scrotum with cryptorchidism was found on the left inguinal area. And there was left ipsilateral renal agenesis on the ultrasonogram and DMSA renal scanning. We successfully performed scrotoplasty and orchiopexy.

Operative Risk and Results of Reoperation for Heart Valve Prostheses / 대한흉부외과학회지

We reviewed data of 64 patients who underwent reoperation because of prosthetic valve malfunction from January 1991 to December 1995. The indications for reoperation were prosthetic valve failure(primary tissue failure: 53 patients, 82.8%), prosthetic valve thrombosis(6 patients, 9.4%), paravalvular leak(3 patients, 4.7%), prosthetic valve endocarditis(2 patients, 3.6%). Prosthetic valve failure developed most frequently in mitral portion(40 patients, 75%), prosthetic valve thrombosis also in mitral portion(4 patients, 67%), paravalvular leak significantly in aortic portion(3 patients, 100%). Explant period was longest in prosthetic valve failure(mean 107.4+/-24.6 months), shortest in prosthetic valve endocarditis with prosthetic valve thrombosis(1 patient, 1 month). Mean explant period, defined as from first valve replacement operation to redo-valve replacement operatopn, was 109.2+/-10.7 months in mitral portion, 97.8+/-10.4 months in aortic portion, 109.5+/-10.4 months in total. Overall hospital mortality was 9.38%. The most common cause of death was the low cardiac output(4 patients), other causes were bleeding(1 patient), CNS injury(1 patient). Preoperative NYHA class IV(P=0.011), emergency operation(P=0.011), prosthetic valve endocarditis(P=0.001) were the independent risk factors, but age, sex, explant period, ACC time, double valve replacement, valve position, second reoperation did not appear to be significant risk factors. Mean follow up period was 28.8+/-17.8 months. Actuarial survival at 3 year was 92.0+/-6.2%, 2 year event-free survival was 84.3+/-6.1%. We propose that patients undergoing reoperation because of prosthetic valve failure are carfully controlled and selected in regarding to above mentioned risk factors - NYHA class IV, emergency operation, prosthetic valve endocarditis in preoperative state. About other risk factors possible, there is necessary of following study.