Transesophageal echocardiography is a useful device to evaluate the posterior structure of heart with an advantage of enabling clearer images, as compared to transthoracic echocardiography. With intraoperative transesophageal echocardiography, we can reconfirm pre-diagnosed lesions, determine the success of the operation, and in particular, diagnose new lesions that are undetected in pre-operative evaluation. In the present case, undiagnosed patent ductus arteriosus was found on intraoperative transesophageal echocardiography during cardiopulmonary bypass. Subsequently, the patent ductus arteriosus was ligated successfully. With transesophageal echocardiography, we can diagnose the structural and functional abnormality of heart unidentified in the pre-operative evaluation. Also, transesophageal echocardiography can play the role of a rescuer to solve the problems that occur during cardiopulmonary bypass.
Cardiopulmonary Bypass* ; Ductus Arteriosus, Patent* ; Echocardiography ; Echocardiography, Transesophageal* ; Heart ; Humans

OBJECTIVE: Severity of nausea and vomiting of pregnancy (NVP) is associated with adverse pregnancy outcomes and poorer quality of life (QOL). The aim of this study was to evaluate the severity of NVP and maternal well-being status using the Pregnancy-Unique Quantification of Emesis and Nausea (PUQE) scale in a Korean population. METHODS: A total of 527 pregnant women who were receiving prenatal care at 4 hospitals were asked to participate in the study between January 2015 and June 2015. The severity of NVP was evaluated by the PUQE scale and maternal well-being status was evaluated using the visual analogue scale (VAS). Statistical analyses were performed to determine the risk factors associated with NVP and the associations between the severity of NVP and QOL. RESULTS: Among the 472 eligible pregnant women, 381 (80.7%) were suffering from NVP during pregnancy. No significant differences (P>0.05) were observed in any of the variables between the 2 study groups, with the exception of smoking, alcohol consumption, and history of NVP. NVP history was found to be the most powerful risk factor (adjusted odds ratio, 11.6; 95% confidence interval, 4.7–28.7). The correlation coefficient (r) between the VAS scores of maternal well-being status and PUQE severity was −0.25 (r 2=0.062; P-< 0.001). CONCLUSION: In this study, an explicit decline in maternal well-being status was observed according to severity of NVP. The PUQE scale may be of help to clinicians, healthcare providers, and researchers because of its simplicity and usefulness as a tool for NVP evaluation.
Alcohol Drinking ; Female ; Health Personnel ; Humans ; Korea ; Nausea ; Odds Ratio ; Pregnancy Outcome ; Pregnancy ; Pregnant Women ; Prenatal Care ; Quality of Life ; Risk Factors ; Smoke ; Smoking ; Visual Analog Scale ; Vomiting

OBJECTIVE: To estimate the odds ratio of prepregnant body mass index (BMI), gestational weight gain (GWG), and gestational diabetes mellitus (GDM) for excessive fetal growth, which we define as large for gestational age (LGA). METHODS: We included 16,297 women who delivered a live-born singleton baby at term. We fit logistic regressions to estimate the odds ratios of variables, including maternal age, parity, prepregnant BMI > or =23, GWG > or =15 kg, and GDM, for LGA. We classified GWG into four categories (<10, 10-14.9, 15-19.9, and > or =20 kg) and BMI into four categories (underweight, normal, overweight, and obese). After adjusting for age and parity, we analyzed the odds ratios of prepregnant BMI according to GWG between non-GDM and GDM women for LGA. RESULTS: The odds ratios of GWG > or =15 kg and prepregnancy BMI > or =23 for LGA were 2.40 (95% confidence interval [CI], 2.16-2.67) and 2.24 (95% CI, 1.99-2.51), respectively. The odd ratio of GDM was 1.37 (95% CI, 1.09-1.71). The risk of GDM women with normal/-overweight BMI and GWG <15 kg for LGA was not significantly greater than those of the reference group. The odd ratios of GDM women with overweight/obese BMI and GWG 15 to 19.9 kg were 3.95 (95% CI, 1.26-12.38) and 9.70 (95% CI, 3.79-24.87), respectively. CONCLUSION: GWG > or =15 kg might be a more important risk factor for LGA than either prepregnancy BMI > or =23 or GDM. Risk for LGA was highest in obese GDM women with GWG > or =15 kg.
Birth Weight ; Body Mass Index ; Diabetes, Gestational ; Female ; Fetal Development* ; Gestational Age ; Humans ; Logistic Models ; Maternal Age ; Odds Ratio ; Overweight ; Parity ; Pregnancy ; Risk Factors* ; Weight Gain*

Gastrointestinal stromal tumors (GIST) are mesenchymal gut tumors that lack markers of myogenic differentiation, but express CD34 and CD117, which are products of the c-kit oncogene. They present commonly gastrointestinal bleeding and abdominal pain and/or palpable mass. The other symptoms may include anorexia, weight loss, obstruction, perforation or fever. Fever due to abscess formation is rare complaint of GIST. We report a case of GIST of stomach with abscess and gastric fistula in a 54-year-old male who presented a three-week history of abdominal pain and fever. Fistula opening site was observed by endoscope, and abdominal CT showed multiple air pockets within the mass representing communication with bowel lumen by fistula.
Abdominal Pain ; Abscess ; Anorexia ; Endoscopes ; Fever ; Fistula ; Gastric Fistula* ; Gastrointestinal Stromal Tumors* ; Hemorrhage ; Humans ; Male ; Middle Aged ; Oncogenes ; Stomach* ; Tomography, X-Ray Computed ; Weight Loss

PURPOSE: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. MATERIALS AND METHODS: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. RESULTS: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). CONCLUSION: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase ; Abortion, Spontaneous ; Alleles ; Aneuploidy ; Child ; Down Syndrome ; Female ; Ferredoxin-NADP Reductase ; Fetus ; Genotype ; Humans ; Intellectual Disability ; Methionine ; Mothers ; Odds Ratio ; Oxidoreductases ; Pregnancy ; Risk Factors

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.
Adolescent ; Diagnosis* ; Exome* ; Genetic Heterogeneity* ; Humans ; Kidney Failure, Chronic ; Korea ; Liver ; Mass Screening ; Wills

Purpose: In men with metastatic castration-resistant prostate cancer (mCRPC), new bone lesions are sometimes not properly categorized through a confirmatory bone scan, and clinical significance of the test itself remains unclear. This study aimed to demonstrate the performance rate of confirmatory bone scans in a real-world setting and their prognostic impact in enzalutamide-treated mCRPC. Materials and Methods: Patients who received oral enzalutamide for mCRPC during 2014-2017 at 14 tertiary centers in Korea were included. Patients lacking imaging assessment data or insufficient drug exposure were excluded. The primary outcome was overall survival (OS). Secondary outcomes included performance rate of confirmatory bone scans in a real-world setting. Kaplan-Meier analysis and multivariate Cox regression analysis were performed. Results: Overall, 520 patients with mCRPC were enrolled (240 [26.2%] chemotherapy-naïve and 280 [53.2%] after chemotherapy). Among 352 responders, 92 patients (26.1%) showed new bone lesions in their early bone scan. Confirmatory bone scan was performed in 41 patients (44.6%), and it was associated with prolonged OS in the entire population (median, 30.9 vs. 19.7 months; p < 0.001), as well as in the chemotherapy-naïve (median, 47.2 vs. 20.5 months; p=0.011) and post-chemotherapy sub-groups (median, 25.5 vs. 18.0 months; p=0.006). Multivariate Cox regression showed that confirmatory bone scan performance was an independent prognostic factor for OS (hazard ratio 0.35, 95% confidence interval, 0.18 to 0.69; p=0.002). Conclusion Confirmatory bone scan performance was associated with prolonged OS. Thus, the premature discontinuation of enzalutamide without confirmatory bone scans should be discouraged.