OBJECTIVES: Considering large diversity of clinical presentation of schizophrenia, it is important to identify valid clinical subtypes or dimensions that might have homogeneous biological underpinning. The current study aimed to explore lifetime symptom-based dimensional phenotypes in patients with chronic schizophrenia, and to investigate their correlation with cognitive functions and other clinical characteristics. METHODS: Lifetime-based symptoms and additional clinical variables were measured using the Diagnostic Interview for Genetic Studies and the Schedule for the Deficit Syndrome in 315 clinically stable patients with chronic schizophrenia. Through principal components factor analysis, eight dimensional phenotypes were obtained. Comprehensive neuropsychological tests were administered for 103 out of 315 patients, and domain scores were calculated for cognitive domains defined in the MATRICS consensus battery. RESULTS: 'Non-paranoid delusion factor' including delusions of grandiose or religious nature, showed significant negative correlation with processing speed, working memory, attention/vigilance, and general cognitive ability, and positive correlation with intra-individual variability. 'Negative symptom factor' showed significant negative correlation only with general cognitive ability. Those two factors were also negatively correlated with function levels measured by Global Assessment Scale (GAS), and associated with poor treatment responses. CONCLUSION: Symptom-based dimensional phenotypes of schizophrenia measured on a lifetime basis showed discriminative correlation with cognitive function domains, global functioning level, and overall treatment responses, indicating their possibility as valid phenotype axes of schizophrenia having homogeneous biologic basis.
Appointments and Schedules ; Cognition ; Consensus ; Delusions ; Humans ; Memory, Short-Term ; Neuropsychological Tests ; Phenotype ; Schizophrenia*

No abstract available.
Korea ; Prekallikrein

We have been testing familial relationships based on short tandem repeats (STRs) in families who requested it either voluntarily or by order of the court. Here, we present a summary of our 5-year experience of autosomal STR-based paternity tests. A total of 1,431 individuals from 588 cases were tested, including 878 pairs of either of the parent, and a child. Among these 588 cases, genetic information about the other parent was available only for 135 cases. Five hundred eighteen pairs were concluded to be parent-child relations, for which the median paternity index (PI) was 72,826, and the median decimal logarithm was 4.860. Autosomal mutation was observed in nine pairs (1.74%), and the pairs harbored only one mismatched locus among the 15 standard loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA). The number of mismatched loci did not increase even after additional loci were included in the study. The observed mutation rates were D13S317 (0.193%), D18S51 (0.193%), D19S433 (0.193%), FGA (0.193%), vWA (0.386%), Penta D (0.387%), and Penta E (0.193%). There were 14 pairs with two mismatched loci, which we excluded through additional tests on either autosomal or X chromosomal STRs, and mitochondrial sequencing. Although PI is useful for determining parent-child relation, it provides indirect information; it is an interpretation of the test results that is based on probability. Additional genotyping on sex chromosome and mitochondrial DNA, or participation of other family members might be beneficial for a reliable conclusion.
Child ; DNA, Mitochondrial ; Humans ; Microsatellite Repeats ; Mutation Rate ; Parent-Child Relations ; Parents ; Paternity* ; Sex Chromosomes

PURPOSE: Voiding cystourethrography(VCUG) is required to detect vesicoureteral reflux(VUR), which may manifest as urinary tract infection(UTI) in children. It is well known that VCUG can cause UTI(post-VCUG UTI). In this study, risk factors for post-VCUG UTI and the preventive effect of antibiotics against this complication of VCUG were explored. METHODS: Medical records of 284 patients who underwent VCUG at our hospital in 2007 were reviewed retrospectively. The incidence of post-VCUG UTI and risk factors for post-VCUG UTI, and the impact of antibiotic use on prevention of post-VCUG UTI were evaluated. According to antibiotics usage, we divided the enrolled patients into 4 groups of noantibiotics group, prophylactic antibiotics group(prophylactic antibiotics having been used before), antibiotics-for-VCUG group(antibiotics added for VCUG) and antibiotics-for-treatment group(treatment dose of antibiotics). RESULTS: Seven of 284 children(2.5%) developed UTI after they underwent VCUG. High-grade(grade> or =III) VUR was the only statistically significant risk factor(odds ratio[OR] 6.266, P=0.026) for post-VCUG UTI, while sex, age, and other anomalies of urinary system were not significant. Five post-VCUG UTI cases belonged to prophylactic antibiotics group. Antibiotics use (three groups using antibiotics vs. no-antibiotics group) or addition of antibiotics for VCUG (antibiotics-for-VCUG vs. other groups) did not have any effect on prevention of post-VCUG UTI. CONCLUSION: The risk factor for post-VCUG UTI was high-grade VUR. Antibiotics use did not prevent post-VCUG UTI in this study.
Anti-Bacterial Agents ; Child ; Humans ; Incidence ; Medical Records ; Retrospective Studies ; Risk Factors ; Urinary Tract ; Urinary Tract Infections

Paroxysmal nocturnal hemoglobinuria(PNH) is an acquired hematologic disorder characterized by intravascular hemolysis, nocturnal hemoglobinuria, thrombotic events and bone marrow failure. It rarely occurs in children and can be complicated by acute renal failure(ARF). Here, we present two cases of ARF complicating PNH which has not been reported yet in Korean children. We suggest that PNH should be considered in differential diagnosis of ARF in children associated with intravascular hemolysis.
Acute Kidney Injury ; Bone Marrow ; Child ; Diagnosis, Differential ; Hemoglobinuria ; Hemoglobinuria, Paroxysmal ; Hemolysis ; Humans

PURPOSE: It has been reported that the survival of patients with locally advanced gastric cancer (LAGC) is better in East Asia countries than in developed western countries; however, the prognosis of LAGC remains poor. This study aimed to evaluate the effects of perioperative chemotherapy on the long-term survival of East Asia patients with LAGC. MATERIALS AND METHODS: From October 2006 through August 2008, 43 patients with LAGC received perioperative S-1 combined with weekly docetaxel in a phase II study (neoadjuvant group). These patients were matched using propensity scores to patients who underwent surgery without neoadjuvant chemotherapy during the same period (surgery group). The surgical outcomes and long-term survivals were compared between the 2 groups. RESULTS: After matching, 43 and 86 patients were included in the neoadjuvant and surgery groups, respectively, and there was no significant difference in their baseline characteristics. Although the operating time was longer in the neoadjuvant group, there was no significant difference in postoperative complications between the 2 groups. The neoadjuvant group had a significantly higher 5-year overall survival (OS) rate (73.3% vs. 51.1%, P=0.005) and a trend towards higher 5-year progression-free survival (PFS) (62.8% vs. 49.9%, P=0.145). In the multivariate analysis, perioperative chemotherapy was an independent factor for OS, with a hazard ratio of 0.4 (P=0.005) and a marginal effect on the PFS (P=0.054). CONCLUSIONS: Perioperative chemotherapy was associated with better long-term survival without increasing postoperative complications in the setting of D2 surgery for patients with LAGC, suggesting that perioperative chemotherapy can be a therapeutic option in East Asia countries.
Disease-Free Survival ; Drug Therapy* ; Far East ; Humans ; Multivariate Analysis ; Neoadjuvant Therapy ; Postoperative Complications ; Prognosis ; Propensity Score* ; Stomach Neoplasms*

Background: The purpose of this study was to evaluate the effect of vanishing twin (VT) on maternal serum marker concentrations and nuchal translucency (NT). Methods: This is a secondary analysis of a multicenter prospective cohort study in 12 institutions. Serum concentrations of pregnancy-associated plasma protein-A in the first trimester and alpha-fetoprotein (AFP), total human chorionic gonadotrophin, unconjugated estriol, and inhibin A in the second trimester were measured, and NT was measured between 10 and 14 weeks of gestation. Results: Among 6,793 pregnant women, 5,381 women were measured for serum markers in the first or second trimester, including 65 cases in the VT group and 5,316 cases in the normal singleton group. The cases in the VT group had a higher median multiple of the median value of AFP and inhibin A than the normal singleton group. The values of other serum markers and NT were not different between the two groups. After the permutation test with adjustment,AFP and inhibin A remained significant differences. The frequency of abnormally increased AFP was also higher in the VT group than in the normal singleton group. Conclusion VT can be considered as an adjustment factor for risk assessment in the secondtrimester serum screening test.