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Background Chronic kidney disease is a significant health burden worldwide, with increasing incidence. Although several genome-wide association studies (GWAS) have investigated single nucleotide polymorphisms (SNP) associated with kidney trait, most studies were focused on European ancestry. Methods We utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES). Results More than five million SNPs from 58,406 participants were analyzed. After meta-GWAS, 1,360 loci associated with estimated glomerular filtration rate (eGFR) at a genome-wide significant level (p = 5 × 10–8) were identified. Among them, 399 loci were validated with at least one other biomarker (blood urea nitrogen [BUN] or eGFRcysC) and 149 loci were validated using both markers. Among them, 18 SNPs (nine known ones and nine novel ones) with 20 putative genes were found. The aggregated effect of genes estimated by MAGMA gene analysis showed that these significant genes were enriched in kidney-associated pathways, with the kidney and liver being the most enriched tissues. Conclusion In this study, we conducted GWAS for more than 50,000 Korean individuals and identified several variants associated with kidney traits, including eGFR, BUN, and eGFRcysC. We also investigated functions of relevant genes using computational methods to define putative causal variants.

ObjectiveThis study aimed to determine the factors affecting pathologic discrepancy and final diagnosis between colposcopic biopsy and pathology by loop electrosurgical excision procedure (LEEP).MethodsBetween 2004 and 2016, 1,200 patients who underwent LEEP were enrolled for this study. 667 underwent cervical cytology, human papillomavirus (HPV) test, colposcopic biopsy, and LEEP. We analyzed patient's age, menopausal status, number of delivery, abortion times, cervical cytology, number of punch biopsies, HPV type, LEEP, and interval between colposcopic biopsy and LEEP.ResultsLogistic regression analysis of the final diagnosis showed that age 30–39 years and other high HPV group types were associated with cancer diagnosis, whereas atypical squamous cells cannot exclude high-grade squamous intraepithelial lesion (ASC-H), high-grade squamous intraepithelial lesion (HSIL), and HPV type 16 affected the diagnosis of cervical intraepithelial neoplasia (CIN) 2. The overall concordance rate of histopathology between punch biopsy and LEEP was 43.3%. The rates of detecting a more severe lesion by LEEP than those by biopsy were 23.1%. The rates of a less severe lesion detected by LEEP than those by biopsy were 33.6%. Factors related with biopsy underestimation were as follows:

Benign multicystic peritoneal mesothelioma (BMPM) is rare and difficult to diagnose before surgery. We report a case of BMPM incidentally discovered during laparoendoscopic single site surgery (LESS) for treatment of a pelvic mass. A 47-year-old Korean menopaused woman presented to our outpatient clinic with a pelvic mass. She had a history of right ovary cystectomy with adhesiolysis at a local hospital in 2010. Imaging study of the pelvis revealed a multilocular cystic mass. LESS was performed and multiple grapelike clusters of cysts were seen in the uterus, cul-de-sac, both adnexa, pelvic wall, and omentum. The appendix was grossly free. Frozen biopsy confirmed BMPM. Excision of multiple cyst clusters of cysts, resection of the uterus with both adnexa, appendectomy, omentectomy, and adhesiolysis were performed with LESS. She is well for 2 years with no recurrence. BMPM should be included in the differential diagnosis when small multichamber cystic mass is found on ultrasonography.

Polysplenia syndrome is a rare situs ambiguous anomaly associated with multiple spleens and anomalies of abdominal organs. Because most of the minor anomalies do not cause clinical symptoms, polysplenia syndrome is detected incidentally in the adults. Anomalies of abdominal organs may include multiple spleens of variable size or right-sided spleen, large midline or left-sided liver, midline gallbladder, biliary tract anomalies, short pancreas, right-sided stomach, intestinal malrotation, inferior vena cava interruption with azygos or hemiazygos continuation, and a preduodenal portal vein. As the multidetector computed tomography is increasingly used, situs anomalies will likely to be found with greater frequency in the adults. Therefore, radiologists should become familiar with these rare and peculiar anomalies of abdominal organs in polysplenia syndrome.