OBJECTIVES: Autism is a complex neurodevelopmental spectrum disorder with a strong genetic component. Previous neurochemical and genetic studies suggested the possible involvement of glutamate N-methyl-D-aspartate(NMDA) receptor in autism. The aim of study was to investigate the association between the NMDA2B receptor gene(GRIN2B) and autism spectrum disorders(ASD) in the Korean population. METHODS: The patients with ASD were diagnosed with Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule based on DSM-IV diagnostic classification. The present study was conducted with the detection of four single nucleotide polymorphisms(SNPs) in GRIK2 and family-based association analysis of the single nucleotide polymorphisms in Korean ASD trios using transmission disequilibrium test (TDT). RESULTS: One hundred twenty six patients with ASD and their biological parents were analyzed. 86.5% were male and 85.1% were diagnosed as autistic disorder. The mean age was 71.9+/-31.6 months(range : 26-185 months). We found that rs1805247 showed significantly preferential transmission(TDT chi-square=12.8, p < 0.001) in ASD. CONCLUSION: One SNP in GRIN2B gene was significantly associated with ASD in the Korean population. This result suggests the possible involvement of glutamate NMDA receptor gene in the development of ASD.
Appointments and Schedules ; Autistic Disorder* ; Child ; Autism Spectrum Disorder* ; Classification ; Diagnostic and Statistical Manual of Mental Disorders ; Glutamic Acid* ; Humans ; Male ; N-Methylaspartate* ; Parents ; Polymorphism, Single Nucleotide ; Receptors, Glutamate*

This study evaluated the family-based genetic association between autism spectrum disorders (ASDs) and 5 single-nucleotide polymorphisms (SNPs) in the catechol-o-methyltransferase gene (COMT), which was found among 151 Korean ASDs family trios (dominant model Z = 2.598, P = 0.009, P(FDR) = 0.045). We found a statistically significant allele transmission or association in terms of the rs6269 SNP in the ASDs trios. Moreover, in the haplotype analysis, the haplotypes with rs6269 demonstrated significant evidence of an association with ASDs (additive model rs6269-rs4818-rs4680-rs769224 haplotype P = 0.004, P(FDR) = 0.040). Thus, an association may exist between the variants of the COMT gene and the occurrence of ASDs in Koreans.
Alleles ; Asian Continental Ancestry Group/*genetics ; Catechol O-Methyltransferase/*genetics ; Child ; Child Development Disorders, Pervasive/diagnosis/*genetics ; Child, Preschool ; Female ; Genotype ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; *Polymorphism, Single Nucleotide ; Republic of Korea

OBJECTIVE: Autism spectrum disorders (ASDs) are a group of early childhood-onset neurodevelopmental disorders characterized by deficits in social interaction and language skills, and repetitive behaviors. Brain-derived neurotrophic factor (BDNF) plays a critical role in the differentiation of normal neuronal cells during embryonic and postnatal neuronal development through its neurotrophic effects. METHODS: In this study, we performed a family-based association test (FBAT) between single nucleotide polymorphisms (SNPs; rs6265, rs11030101, rs7103411, and rs7103873) or haplotypes in the BDNF gene and affection status or several quantitative traits characterized by ADI-R with151 Korean trios, including a child diagnosed as ASDs. RESULTS: While no significant association was found between SNPs or haplotypes and the ASDs disease status, a quantitative transmission disequilibrium test (QTDT) by using quantitative traits identified associations of the SNPs (rs6265 and rs11030101) with a domain score for "Restricted, Repetitive and Stereotyped patterns of behavior" (C domain), especially at the subdomain scores for "encompassing preoccupation or circumscribed pattern of interest" (C1) (rs6265A allele, dominant model, p-value=0.019; rs11030101 A allele, additive model, p-value=0.015) and "preoccupations with part of objects or non-functional elements of material" (C4) (rs11030101 A allele, additive model, p-value=0.015) within the ADI-R diagnostic algorithm. In addition, significant associations were also identified between the haplotypes and these quantitative traits (C1, p-value=0.016; C4, p-value=0.012). CONCLUSION: We conclude that BDNF gene polymorphisms have a possible role in the pathogenesis of ASDs.
Alleles ; Brain-Derived Neurotrophic Factor* ; Child ; Autism Spectrum Disorder* ; Haplotypes ; Humans ; Interpersonal Relations ; Neurons ; Polymorphism, Single Nucleotide

OBJECTIVES : The serotonin transporter gene(SLC6A4) is one of the most widely studied candidate genes in autism spectrum disorder(ASD), but there have been conflicting results from studies into the association between SLC6A4 and ASD. The aim of this study was to evaluate the association between single nucleotide polymorphisms(SNPs) in the SLC6A4 gene and ASD in the Korean population. METHODS : We selected 12 SNPs in SLC6A4 and observed the genotype of 151 Korean ASD trios. We tested the family-based association for each individual polymorphism and haplotype by using the standard TDT method in Haploview(http : /www.broad.mit.edu/mpg/haploview/). RESULTS : Through transmission-disequilibrium testing and haplotype analysis, we could not find any statistically significant transmitted allele or haplotype. In addition, a case-control association test with Korean HapMap data did not reveal any statistical significance. CONCLUSION : Although serotonin-related genes must be considered candidate genes for ASD, we suggest that common SNPs of SLC6A4 are not important markers for associations with Korean ASD.
Alleles ; Autistic Disorder ; Case-Control Studies ; Child ; Autism Spectrum Disorder ; Genotype ; Haplotypes ; HapMap Project ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Serotonin Plasma Membrane Transport Proteins

OBJECTIVES: The incidence of hepatitis A infections among young adults has recently increased in South Korea. Although universal vaccination has often been suggested to mitigate the problem, its rationale has not been well-understood. Estimating the societal costs of hepatitis A infections might support the development of intervention strategies. METHODS: We classified hepatitis A infections into eight clinical pathways and estimated the number of occurrences and cost per case for each clinical pathway using claim data from National Health Insurance and several national surveys as well as assumptions based on previous studies. To determine the total costs of a hepatitis A infection, both direct and indirect costs were estimated. Indirect costs were estimated using the human-capital approach. All costs are adjusted to the year 2008. RESULTS: There were 30,240 identified cases of hepatitis A infections in 2008 for a total cost of 80,873 million won (2.7 million won per case). Direct and indirect costs constituted 56.2% and 43.8% of the total costs, respectively. People aged 20-39 accounted for 71.3% of total cases and 74.6% of total costs. Medical costs per capita were the lowest in the 0-4 age group and highest in the 20-29 age group. CONCLUSIONS: This study could provide evidence for development of cost-effective interventions to control hepatitis A infections. But the true costs including uncaptured and intangible costs of hepatitis A infections might be higher than our results indicate.
Cost of Illness ; Critical Pathways ; Hepatitis A* ; Humans ; Incidence ; Korea ; National Health Programs ; Republic of Korea ; Vaccination ; Young Adult

OBJECTIVES: To develop a tool which can easily access the hospital information system (HIS) to facilitate outpatient care and maximize patient satisfaction on his or her hospital visit. METHODS: Our Center for Informatics developed an outpatient guidance system (OGS) after careful analysis of the list of daily tasks undergone by patients and related work processes. Bluetooth beacons were installed to assist patients, to inform them of points of interest, and to guide them along the proper routes to and within the hospital. RESULTS: The OGS conveniently provided patients' clinic schedules, routes to the hospital, and direct costs; all of this information was embedded in the HIS accessed from patients' personal mobile devices or kiosks. Patients were also able to identify their locations within the hospital, receiving proper directions to subsequent task. Since its launch in October 2014, the number of mobile accesses increased from 4,011 to 8,242 per month within a year. CONCLUSIONS: The substantial growth of interest in and use of our OGS in such a short period indicate that this system has been successfully incorporated into patients' daily activities. We believe that this system will continue to help improve health services and the well-being of those visiting the hospital.
Ambulatory Care ; Appointments and Schedules ; Health Services ; Hospital Information Systems ; Humans ; Informatics ; Outpatients* ; Patient Care ; Patient Satisfaction ; Smartphone

OBJECTIVE: We aimed to investigate the neurocognitive and behavioral endophenotypes of premorbid mood disorder. We compared intelligence, neuropsychological functioning, and behavioral problems among three groups: 1) a high-risk group [attention-deficit hyperactivity disorder (ADHD) children of parents with a history of a mood disorder], 2) a low-risk group (ADHD children of parents without a history of a mood disorder), and 3) normal comparison subjects. METHODS: We used the Korean Educational Development Institute Wechsler Intelligence Scale for Children-Revised (KEDI-WISC-R), the Stroop Color Word Interference Test (Stroop), the Wisconsin Card Sorting Test (WCST), and the Rey-Osterrieth Complex Figure Test (RCFT) as neurocognitive measures, and we used the Child Behavior Checklist (CBCL) as a behavioral measure. Performance on these neuropsychological tests and score on the CBCL of 18 high-risk children were compared to those of 20 low-risk children and 24 healthy children. We also assessed the children's current mood state and familial functioning to control for the confounding effects of these variables. RESULTS: Compared to low-risk and healthy children, high-risk children were impaired on the Picture Completion and Stroop Word subtest and showed higher scores on the CBCL subscales representing internalizing symptoms. These significant group differences persisted even after adjustment for the children's current mood state and familial functioning. CONCLUSION: Neuropsychological deficits in the offspring of parents with a mood disorder may be associated with the current mood state rather than with innate characteristics, while their internalizing symptoms may partially stem from innate characteristics that are endophenotypes of a premorbid mood disorder.
Attention Deficit Disorder with Hyperactivity ; Checklist ; Child Behavior ; Child* ; Endophenotypes ; Humans ; Intelligence ; Mood Disorders* ; Neuropsychological Tests ; Neuropsychology ; Parents* ; Pilot Projects* ; Wisconsin

Purpose: The use of antiplatelet and/or anticoagulant therapies has become common. In rare cases, these therapies may increase the risk of dangerous postoperative bleeding. We investigated the association of antiplatelets and/or anticoagulants with postoperative major bleeding risk in laparoscopic gastric cancer surgery. Methods: We retrospectively enrolled 3,663 gastric cancer patients (antiplatelet/anticoagulant group, 518; control group, 3,145) who had undergone laparoscopic surgery between January 2012 and December 2017. To minimize selection bias, 508 patients in each group were matched using propensity score matching (PSM) method. The primary outcome was postoperative major bleeding. Secondary outcomes were intraoperative, postoperative transfusion and early complications. Results: After PSM, postoperative major bleeding occurred in 10 (2.0%) and 3 cases (0.6%) in the antiplatelets/ anticoagulants and control groups, respectively (P = 0.090). Intraoperative and postoperative transfusions were not significantly different between 2 groups (2.4% vs. 1.4%, P = 0.355 and 5.5% vs. 4.3%, P = 0.469). Early complications developed in 58 (11.4%) and 43 patients (8.5%) in the antiplatelets/anticoagulants and control groups, respectively (P = 0.142). The mean amounts of intraoperative and postoperative transfusions were not significantly different between the groups (366.67 ± 238.68 mL vs. 371.43 ± 138.01 mL, P = 0.962; 728.57 ± 642.25 mL vs. 508.09 ± 468.95 mL, P = 0.185). In multivariable analysis, male (P = 0.008) and advanced stage (III, IV) (P = 0.024) were independent significant risk factors for postoperative major bleeding. Conclusion Preoperative antiplatelets and/or anticoagulants administration did not significantly increase the risk of postoperative major bleeding after laparoscopic gastric cancer surgery.

Purpose: This study aimed to evaluate the outcomes and current status of reduced-port laparoscopic distal gastrectomy (RLDG) compared with multiport laparoscopic distal gastrectomy (MLDG) based on a 2019 nationwide survey of surgical gastric cancer treatments by the Korean Gastric Cancer Association (KGCA). Materials and Methods: The study was conducted retrospectively from March to December 2020 using data from the 2019 KGCA nationwide survey database. To compare RLDG and MLDG based on age, sex, body mass index, American Society of Anesthesiologists score, histological type, tumor invasion, and lymph node metastasis, propensity score matching was performed. Results: Of the 14,076 registered patients with gastric cancer, the five-port approach was the most favored for multiport gastrectomy, accounting for 6,396 (70.9%) cases, followed by the four-port approach, with 1,462 (16.2%) cases. The single-port approach was used in 303 (3.4%) cases, the two-port approach in 95 (1.1%) cases, and the three-port approach in 731 (8.1%) cases. RLDG was performed in 805 patients (6.4%), MLDG was conducted in 4,831 patients (34.3%), and 804 patients were 1:1 matched in each group. The average operation time was shorter in the RLDG (168.2±49.1 min vs. 179.5±61.5 min, P<0.001). No significant difference was found in blood loss (84.8±115.9 cc vs. 75.5±119.6 cc, P=0.152), overall complication rates (11.3% vs. 13.1%, P=0.254), or complications ≥ to grade IIIa (3.2% vs. 4.4%, P=0.240). Conclusions This study revealed that RLDG is a safe and effective surgical option for gastric cancer with the potential to offer shorter operation times without increasing the risk of complications.

Purpose: This study aimed to evaluate the outcomes and current status of reduced-port laparoscopic distal gastrectomy (RLDG) compared with multiport laparoscopic distal gastrectomy (MLDG) based on a 2019 nationwide survey of surgical gastric cancer treatments by the Korean Gastric Cancer Association (KGCA). Materials and Methods: The study was conducted retrospectively from March to December 2020 using data from the 2019 KGCA nationwide survey database. To compare RLDG and MLDG based on age, sex, body mass index, American Society of Anesthesiologists score, histological type, tumor invasion, and lymph node metastasis, propensity score matching was performed. Results: Of the 14,076 registered patients with gastric cancer, the five-port approach was the most favored for multiport gastrectomy, accounting for 6,396 (70.9%) cases, followed by the four-port approach, with 1,462 (16.2%) cases. The single-port approach was used in 303 (3.4%) cases, the two-port approach in 95 (1.1%) cases, and the three-port approach in 731 (8.1%) cases. RLDG was performed in 805 patients (6.4%), MLDG was conducted in 4,831 patients (34.3%), and 804 patients were 1:1 matched in each group. The average operation time was shorter in the RLDG (168.2±49.1 min vs. 179.5±61.5 min, P<0.001). No significant difference was found in blood loss (84.8±115.9 cc vs. 75.5±119.6 cc, P=0.152), overall complication rates (11.3% vs. 13.1%, P=0.254), or complications ≥ to grade IIIa (3.2% vs. 4.4%, P=0.240). Conclusions This study revealed that RLDG is a safe and effective surgical option for gastric cancer with the potential to offer shorter operation times without increasing the risk of complications.