Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

BACKGROUND: This cross-sectional study assessed the sleep quality using the ActiGraph and investigated the relationship between the parameters of sleep assessment and the type of shift work in Korean firefighters. METHODS: The participants were 359 firefighters: 65 day workers (control group) and 294 shift workers (shift work group: 77 firefighters with 3-day shift, 72 firefighters with 6-day shift, 65 firefighters with 9-day shift, and 80 firefighters with 21-day shift). Sleep assessments were performed using the ActiGraph (wGT3X-BT) for 24 hours during day shift (control and shift work group) and night shift and rest day (shift work group). The participants recorded bed time and sleep hours during the measurement period. RESULTS: Sleep efficiency, total sleep time, and percentage of wake after sleep onset during night work were lower in the shift work group than control group (p < 0.05). Sleep efficiency decreased in night shift and increased in rest day, whereas wake after sleep onset increased in night shift and decreased in rest day (p < 0.05). Among shift work groups, sleep efficiency of 6-day shift was higher in day shift, and sleep efficiency of 21-day shift was lower in night shift than other shift groups (p < 0.05). CONCLUSION: We found that the sleep quality in night shift of the shift work group was poorer than the control group. As to the type of shift work, sleep quality was good in 6-day shift and poor in 21-day shift. Thus, fast rotating shift such as 6-day shift may be recommended to improve the sleep quality of the firefighters.
Cross-Sectional Studies ; Firefighters ; Humans

Epidemic keratoconjunctivitis (EKC) and acute hemorrhagic conjunctivitis (AHC) are common diseases caused by human adenoviruses (HAdV) and enteroviruses, respectively, in South Korea. However, there are limited studies on the molecular epidemiology of viral conjunctivitis in South Korea. The main objective of this study was to characterize the genotypes of adenoviruses and enteroviruses causing viral conjunctivitis in the southwest region of South Korea. We collected conjunctival swabs from 492 patients with suspected cases of viral conjunctivitis from 6 ophthalmic hospitals in Gwangju Metropolitan City, in South Korea, between 2012 and 2016. Of the 492 samples tested, HAdVs and enteroviruses were detected in 249 samples (50.6%) and 19 samples (3.9%), respectively. The genotype analysis detected HAdV-8 in 183 samples (73.5%), HAdV-37 in 14 samples (5.6%), and HAdV-3, and HAdV-4 in 9 samples (3.6%) each. We detected coxsackievirus A24 (CVA24) and coxsackievirus B1 (CVB1) in 8 samples (42.0%) and 4 samples (21.0%), respectively. We also reported for the first time HAdV-56-infected cases of EKC in South Korea. Furthermore, we found three cases of coinfection with HAdV and enterovirus genotypes in our samples. HAdV-8 and CVA24, the main causes of EKC and AHC, respectively, worldwide, were also found to be the predominant genotypes in our study.
Adenoviridae ; Adenoviruses, Human ; Coinfection ; Conjunctivitis, Acute Hemorrhagic ; Conjunctivitis, Viral* ; Enterovirus ; Genotype ; Gwangju ; Humans ; Keratoconjunctivitis ; Korea* ; Molecular Epidemiology*

This study was to clarify population pharmacokinetics (PK) of sildenafil and its metabolite, N-desmethyl sildenafil (NDS) in Korean healthy male population using a pooled data from multiple clinical trials in consideration of inter-institution and inter-laboratory difference. A population PK analysis was performed with data of 243 healthy volunteers from five single-center (4 centers) comparative PK trials. The dataset included 7,376 sildenafil and NDS concentration (3,688 for each analyte) observed during 24 hours after the single dose of original sildenafil (either 50 mg or 100 mg of Viagra®). The plasma concentration was assayed in two laboratories. Various model structure was tested and the final model was evaluated using visual predictive checks. Demographic and clinical variables were assessed as potential covariates for PK parameters. A one-compartment first-order elimination model with proportional error was selected for the dispositional characteristics of sildenafil, and two-compartment model was chosen for NDS. Three transit compartments with Erlang-type absorption for fast absorption pathway and one compartment for slow absorption pathway constructed overall absorption model. The first-pass effect was rejected since it does not improve the model. The difference of NDS level by the bioanalysis laboratory was selected as the only covariate. Even though a direct comparison was difficult, the general trend in PK of sildenafil and NDS for Korean healthy male was considered similar to that of the other populations reported previously. It is recommended that the laboratory effect should be explored and evaluated when dataset is built using results from several laboratories.
Absorption ; Administration, Oral* ; Asian Continental Ancestry Group ; Dataset ; Healthy Volunteers ; Humans ; Male* ; Pharmacokinetics* ; Plasma ; Sildenafil Citrate* ; Volunteers*

Early growth response (Egr)-1 is a Cys2-His2-type zincfinger transcription factor. It has been shown to induce survival and proliferation of immature and mature B cells, respectively, but its role in the differentiation of B cells into plasma cells remains unclear. To examine the effects of Egr-1 deficiency on the activation of B cells, naive B cells from Egr1-/- mice and their wild-type (WT) littermates were activated to proliferate and differentiate, and then assayed by FACS. Proportions of cells undergoing proliferation and apoptosis did not differ between Egr1-/- and WT mice. However, Egr1-/- B cells gave rise to fewer plasma cells than WT B cells. Consistently, Egr1-/- mice produced significantly lower titer of antigen-specific IgG than their WT littermates upon immunization. Our results demonstrate that Egr-1 participates in the differentiation program of B cells into plasma cells, while it is dispensable for the proliferation and survival of mature B cells.
Animals ; Apoptosis ; B-Lymphocytes* ; Immunization ; Immunoglobulin G ; Mice ; Plasma Cells* ; Transcription Factors

The purpose of this study was to investigate the long-term clinical course of non-specific interstitial pneumonia (NSIP) and to determine which factors are associated with a response to steroid therapy and relapse. Thirty-five patients with pathologically proven NSIP were included. Clinical, radiological, and laboratory data were reviewed retrospectively. The male-to-female ratio was 7:28 (median age, 52 yr). Thirty (86%) patients responded to steroid therapy, and the median follow-up was 55.2 months (range, 15.9-102.0 months). Five patients (14%) showed sustained disease progression and three died despite treatment. In the five with sustained disease progression, NSIP was associated with various systemic conditions, and the seropositivity of fluorescent antinuclear antibody was significantly associated with a poor response to steroids (P = 0.028). The rate of relapse was 25%, but all relapsed patients improved after re-treatment. The initial dose of steroids was significantly low in the relapse group (P = 0.020). In conclusion, progression is associated with various systemic conditions in patients who show progression. A low dose of initial steroids is significantly associated with relapse.
Adult ; Aged ; Antibodies, Antinuclear/blood ; Female ; Follow-Up Studies ; Humans ; Idiopathic Interstitial Pneumonias/drug therapy/pathology ; Lung Diseases, Interstitial/*drug therapy/mortality/pathology ; Male ; Middle Aged ; Prognosis ; Recurrence ; Retrospective Studies ; Steroids/*therapeutic use

PURPOSE: To evaluate the pathological and clinical effects of preoperative chemoradiation (CCRT) in cases of locally advanced rectal cancer and to determine the predictive factors for tumor downstaging. MATERIALS AND METHODS: From March 2004 to August 2008, 33 patients with locally advanced rectal cancer were treated with preoperative CCRT. Twenty-eight patients (84.8%) were treated using a concomitant boost technique while five (15.2%) patients were treated using a cone down boost technique. All patients received 50.4 Gy of irradiation and concurrent chemotherapy with 5-fluorouracil. The median follow-up duration was 24.2 months (range, 9.8 to 64.7 months). RESULTS: Thirty-one (93.9%) patients underwent surgery. Twenty-four patients (72.7%) underwent anal sphincter-preserving surgery. The 3-year disease free survival (DFS) and overall survival rates were 63.4% and 78.8%, respectively. Post-operative factors were more important for DFS. Pathologic N stage, margin status, and pathologic differentiation were significant prognostic factors (p=0.001, 0.029, 0.030). Tumor size and lymphovascular invasion were also associated with marginal significance (p=0.081, 0.073). However, only pre-treatment T stage was a significant pre-operative factor (p=0.018). The complete pathological response rate was 9.1%. T-downstaging was observed in ten (30.3%) patients, whereas N-downstaging was found in 24 (72.7%) patients. Pre-treatment T stage and the interval between CCRT and operation were the predictive factors for downstaging in a univariate analysis (p=0.029, 0.027). Pre-treatment carcinoembryogenic antigen was also associated with marginal significance (p=0.068). CONCLUSION: The survival of rectal cancer patients can be better determined based on post-operative findings. Therefore, pre-operative CCRT for downstaging of the tumor seems to be important. Pre-treatment T stage and the interval between CCRT and operation can be used to predict downstaging.
Disease-Free Survival ; Fluorouracil ; Follow-Up Studies ; Humans ; Rectal Neoplasms ; Survival Rate

OBJECTIVES: We investigated the association of Val108/158Met polymorphism on catechol-O-methyl transferase(COMT) gene with smooth pursuit eye movement(SPEM) abnormality in Korean schizophrenia patients. METHODS: We measured SPEM in 217 Korean schizophrenia patients(male 116, female 101) and divided them into two groups, one was a good SPEM function group and the other was a poor SPEM function group. Then we analyzed Val108/158Met polymorphism on COMT gene. We compared the differences of genotype and allele distributions of the polymorphism on COMT gene between the two groups. RESULTS: The natural logarithm value of signal/noise ratio(Ln S/N ratio) of the good SPEM function group was 4.39+/-0.33(mean+/-s.d.) and that of poor SPEM function group was 3.17+/-0.71. There were no statistically significant differences of age and male/female ratio between the two groups. There were no significant differences of genotype or allele distributions of the Val108/158Met polymorphism on COMT gene between the two schizophrenic groups. CONCLUSIONS: The results suggest that Val108/158Met polymorphism on COMT gene is not related to SPEM function abnormality in schizophrenia.
Alleles ; Eye ; Female ; Genotype ; Humans ; Polymorphism, Genetic ; Pursuit, Smooth ; Schizophrenia

BACKGROUND: The purpose of this study was to survey the nasal colonization of methicillin-resistant Staphylococcus aureus (MRSA) among the patients admitted in a medical intensive care unit (MICU) and analyze risk factors associated with the colonization. METHODS: The study was carried out on patients admitted into the MICU in a 1,250-bed tertiary care university hospital from January through December 2006. Nasal surveillance cultures were obtained from patients within 24 hours of admission to the unit. Data were analyzed retrospectively by the review of medical records. RESULTS: A total of 312 patients were screened with active nasal cultures; 36 patients (11.6%) were positive for MRSA. Of these, 22 (7.1%) were positive in the nasal cultures only and 14 (4.5%) were positive in the cultures of other specimens (13, sputum; 1, joint fluid) in addition to the nasal swabs. Among the risk factors for MRSA nasal colonization were sex (man), route of admission (from other ICUs or wards), a history of ICU admission during the recent 12 months, and prolonged hospital days in ICU. CONCLUSION: MRSA nasal carrier rate was found higher in this study than in those reported in the literature. Most of the patients colonized with MRSA in the nostril were not colonized with the organism elsewhere in the body. Whether or not active surveillance for MRSA should be performed would depend on the nasal colonization rate of the patients at the time of admission to the ICU.
Colon* ; Humans ; Intensive Care Units* ; Critical Care* ; Joints ; Medical Records ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Retrospective Studies ; Risk Factors ; Sputum ; Tertiary Healthcare

BACKGROUND: Mycoplasma pneumoniae is the most frequent cause of respiratory tract infections in schoolaged children and adolescents. For appropriate use of antibiotics, diagnosis of M. pneumoniae infection in routine clinical practice has been based on serology using a single serum sample. We evaluated the seroprevalence of anti-M. pneumoniae-specific antibodies in 500 asymptomatic, healthy persons in Jeonnam Province. METHODS: Sera were collected from 500 healthy persons in Jeonnam Province. Anti-M. pneumoniae antibody titer was measured using a microparticle agglutination assay Serodia Myco II (Fujirebio, Japan) and VIRCELL IgM Mycoplasma ELISA kits (Vircell, Granada, Spain). RESULTS: Anti-M. pneumoniae antibody titers in 500 healthy individuals were 1:20 in 344 (68.8%), 1:40 in 16 (3.2%), 1:80 in 71 (14.2%), 1:160 in 45 (9.0%), 1:320 in 14 (2.8%), and <1:320 in 10 (2.0%). The positive rate of M. pneumoniae IgM antibodies was 3.2% (15/473). The prevalence of IgM was 10.0% in the 7~9 years, 9.1% in the 10~19 years, and 5.0% in the 20~29 years old group, which was significantly higher than that in elderly people. CONCLUSION: Some of healthy people showed a high anti-M. pneumoniae antibody titer (>1:160) and positive IgM, and an assessment of current infection with single serum serology has its limitation for the diagnosis of M. pneumoniae infections.
Adolescent ; Aged ; Agglutination ; Anti-Bacterial Agents ; Antibodies* ; Child ; Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Humans ; Immunoglobulin M ; Jeollanam-do* ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia ; Pneumonia, Mycoplasma* ; Prevalence* ; Respiratory Tract Infections ; Seroepidemiologic Studies