PURPOSE: The objective of this study was to analyze the brain volume according to the brain image of healthy adults in the 20s taken with different inversion time (TI). MATERIALS AND METHODS: Brain images of healthy adults in the 20 s were acquired using magnetization prepared rapid acquisition gradient echo (MPRAGE) pulse sequence with 1.5 mm thickness of pieces and four inversion times (1100 ms, 1000 ms, 900 ms, 800 ms). The acquired brain images were analyzed to measure the volume of white matter (WM), gray matter (GM), intracranial volume (ICV). The statistical difference according to brain volume and gender was analyzed for each TI. RESULTS: The brain volume calculated using Freesurfer was WM=486.52+/-48.64 cm3 and GM=646.86+/-57.12 cm3 in mean when adjusted by mean ICV=1278.94+/-154.92 cm3. Men's brain volume(WM, GM, ICV) was larger than women's brain volume. In the intrarater reliability test, all of the intraclass correlation coefficients were high (0.992 for WM, 0.988 for GM, and 0.997 for ICV). In the repeated measures analysis of variance, GM and ICV did not show a significant difference at each TI (GM p=0.143, ICV p=0.052), but WM showed a significant (p=0.001). In the linear structure relation analysis, all of the Pearson correlation coefficients were high. CONCLUSION: WM, GM, and ICV indicated high reliability and solid linear structure relations, but WM showed significant differences at each TI. The brain volume of healthy adults in the 20s could be used in comparison with that of patients for reference purposes and to predict the structural change of brain. It would be needed to conduct additional studies to examine the contract, SNR, and lesion detection ability according to variable TI.
Adult ; Brain* ; Healthy Volunteers* ; Humans

The sclerosing hepatocellular carcinoma is a histopathologically unusual subtype of primary hepatocellular carcinoma characterized by intense fibrous stroma in which the tubular neoplastic structures are embedded. It has been reported that hypercalcemia is much more frequently associated up to 69% in this subtype than in other subtypes of primary hepatocellular carcinoma. As we know, uncontrolled hypercalcemia may result in fatal outcome, and it was reported that hypercalcemia associated with hepatocellular carcinoma could be controlled with the resection of the tumor when it was possible. We report a case of sclerosing hepatocellular carcinoma with hypercalcemia in which the hypercalcemia was controlled with transcatheter arterial chemoembolization (TACE).
Angioplasty ; Arteriovenous Fistula ; Carcinoma, Hepatocellular* ; Fatal Outcome ; Hypercalcemia* ; Renal Dialysis

Recently, invasive infections with the human pathogen Streptococcus dysgalactiae subspeciesequisimilis (SDSE) have increased around the globe. Typing of the emm gene of SDSE, which encodes a virulence factor (M protein), has provided important information. Here, we report two cases of invasive SDSE infection that presented with endocarditis and bacteremia, and their emm gene types.
Bacteremia ; Endocarditis ; Humans ; Streptococcus* ; Virulence

Recently, invasive infections with the human pathogen Streptococcus dysgalactiae subspeciesequisimilis (SDSE) have increased around the globe. Typing of the emm gene of SDSE, which encodes a virulence factor (M protein), has provided important information. Here, we report two cases of invasive SDSE infection that presented with endocarditis and bacteremia, and their emm gene types.
Bacteremia ; Endocarditis ; Humans ; Streptococcus* ; Virulence

PURPOSE: To investigate the value of image post-processing software (FreeSurfer, IBASPM [individual brain atlases using statistical parametric mapping software]) and inversion time (TI) in volumetric analyses of the hippocampus and to identify differences in comparison with manual tracing. MATERIALS AND METHODS: Brain images from 12 normal adults were acquired using magnetization prepared rapid acquisition gradient echo (MPRAGE) with a slice thickness of 1.3 mm and TI of 800, 900, 1000, and 1100 ms. Hippocampal volumes were measured using FreeSurfer, IBASPM and manual tracing. Statistical differences were examined using correlation analyses accounting for spatial interpretations percent volume overlap and percent volume difference. RESULTS: FreeSurfer revealed a maximum percent volume overlap and maximum percent volume difference at TI = 800 ms (77.1 +/- 2.9%) and TI = 1100 ms (13.1 +/- 2.1%), respectively. The respective values for IBASPM were TI = 1100 ms (55.3 +/- 9.1%) and TI = 800 ms (43.1 +/- 10.7%). FreeSurfer presented a higher correlation than IBASPM but it was not statistically significant. CONCLUSIONS: FreeSurfer performed better in volumetric determination than IBASPM. Given the subjective nature of manual tracing, automated image acquisition and analysis image is accurate and preferable.
Adult* ; Brain ; Hippocampus ; Humans

Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenoma and of colonic adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestation are seen. Several reports have demontrated a high incidence of papillry carcinoma of thyroid. We experienced a case of familial adenomatous polyposis, presenting with thyoid papillry carcinoma, and reported with a brief review of literatures.
Adenocarcinoma ; Adenoma ; Adenomatous Polyposis Coli* ; Carcinoma, Papillary* ; Colon ; Incidence ; Thyroid Gland* ; Thyroid Neoplasms

Together with single nucleotide polymorphism (SNP), copy number variations (CNV) are recognized to be the major component of human genetic diversity and used as a genetic marker in many disease association studies. Affymetrix Genome-wide SNP 5.0 is one of the commonly used SNP array platforms for SNP-GWAS as well as CNV analysis. However, there has been no report that validated the accuracy and reproducibility of CNVs identified by Affymetrix SNP array 5.0. In this study, we compared the characteristics of CNVs from the same set of genomic DNAs detected by three different array platforms; Affymetrix SNP array 5.0, Agilent 2X244K CNV array and NimbleGen 2.1M CNV array. In our analysis, Affymetrix SNP array 5.0 seems to detect CNVs in a reliable manner, which can be applied for association studies. However, for the purpose of defining CNVs in detail, Affymetrix Genome-wide SNP 5.0 might be relatively less ideal than NimbleGen 2.1M CNV array and Agilent 2X244K CNV array, which outperform Affymetrix array for defining the small-sized single copy variants. This result will help researchers to select a suitable array platform for CNV analysis.
Coat Protein Complex I ; DNA ; Genetic Markers ; Genetic Variation ; Humans ; Polymorphism, Single Nucleotide

Although autism spectrum disorder (ASD) has been thought to have a substantial genetic background, major contributing genes have yet to be identified or successfully replicated. Immunological dysfunction has been suggested to be associated with ASD, and T cell-mediated immunity was considered important for the development of ASD. In this study, we analyzed 163 ASD subjects and 97 normal controls by genomic quantitative PCR to evaluate the association between the copy number variation of the 7q34 locus, harboring the TCRB gene, and ASDs. As a result, there was no significant difference of the frequency distribution of TCRB copy numbers between ASD cases and normal controls. TCRB gene copy numbers ranged from 0 to 5 copies, and the frequency distribution of each copy number was similar between the two groups. The proportion of the individuals with <2 copies of TCRB was 52.8% (86/163) in ASD cases and 57.1% (52/91) in the control group (p=0.44). The proportion of individuals with >2 copies of TCRB was 11.7% (19/163) in ASD cases and 12.1% (11/91) in the control group (p=0.68). After the effects of sex were adjusted by logistic regression, ORs for individuals with <2 copies or >2 copies showed no significant difference compared with the diploid copy number as reference (n=2). Although we could not see the positive association, our results will be valuable information for mining ASD-associated genes and for exploring the role of T cell immunity further in the pathogenesis of ASD.
Autistic Disorder ; Child ; Coat Protein Complex I ; Diploidy ; Electrolytes ; Gene Dosage ; Immunity, Cellular ; Logistic Models ; Mining ; Polymerase Chain Reaction ; Autism Spectrum Disorder

Lung cancer in never-smokers ranks as the seventh most common cause of cancer death worldwide, and the incidence of lung cancer in non-smoking Korean women appears to be steadily increasing. To identify the effect of genetic polymorphisms on lung cancer risk in non-smoking Korean women, we conducted a genome-wide association study of Korean female non-smokers with lung cancer. We analyzed 440,794 genotype data of 285 cases and 1,455 controls, and nineteen SNPs were associated with lung cancer development (P < 0.001). For external validation, nineteen SNPs were replicated in another sample set composed of 293 cases and 495 controls, and only rs10187911 on 2p16.3 was significantly associated with lung cancer development (dominant model, OR of TG or GG, 1.58, P = 0.025). We confirmed this SNP again in another replication set composed of 546 cases and 744 controls (recessive model, OR of GG, 1.32, P = 0.027). OR and P value in combined set were 1.37 and < 0.001 in additive model, 1.51 and < 0.001 in dominant model, and 1.54 and < 0.001 in recessive model. The effect of this SNP was found to be consistent only in adenocarcinoma patients (1.36 and < 0.001 in additive model, 1.49 and < 0.001 in dominant model, and 1.54 and < 0.001 in recessive model). Furthermore, after imputation with HapMap data, we found regional significance near rs10187911, and five SNPs showed P value less than that of rs10187911 (rs12478012, rs4377361, rs13005521, rs12475464, and rs7564130). Therefore, we concluded that a region on chromosome 2 is significantly associated with lung cancer risk in Korean non-smoking women.
Adenocarcinoma/*genetics/pathology ; Adult ; Aged ; Asian Continental Ancestry Group/*genetics ; Cell Adhesion Molecules, Neuronal/*genetics ; Chromosomes, Human, Pair 2 ; Female ; *Genome-Wide Association Study ; Genotype ; Humans ; Logistic Models ; Lung Neoplasms/*genetics/pathology ; Models, Genetic ; Nerve Tissue Proteins/*genetics ; Odds Ratio ; Polymorphism, Single Nucleotide ; Republic of Korea

Although the genetic component in the etiology of rheumatoid arthritis (RA) has been consistently suggested, many novel genetic loci remain to uncover. To identify RA risk loci, we performed a genome-wide association study (GWAS) with 100 RA cases and 600 controls using Affymetrix SNP array 5.0. The candidate risk locus (APOM gene) was re-sequenced to discover novel promoter and coding variants in a group of the subjects. Replication was performed with the independent case-control set comprising of 578 RAs and 711 controls. Through GWAS, we identified a novel SNP associated with RA at the APOM gene in the MHC class III region on 6p21.33 (rs805297, odds ratio (OR) = 2.28, P = 5.20 x 10(-7)). Three more polymorphisms were identified at the promoter region of the APOM by the re-sequencing. For the replication, we genotyped the four SNP loci in the independent case-control set. The association of rs805297 identified by GWAS was successfully replicated (OR = 1.40, P = 6.65 x 10(-5)). The association became more significant in the combined analysis of discovery and replication sets (OR = 1.56, P = 2.73 +/- 10(-10)). The individuals with the rs805297 risk allele (A) at the promoter region showed a significantly lower level of APOM expression compared with those with the protective allele (C) homozygote. In the logistic regressions by the phenotype status, the homozygote risk genotype (A/A) consistently showed higher ORs than the heterozygote one (A/C) for the phenotype-positive RAs. These results indicate that APOM promoter polymorphisms are significantly associated with the susceptibility to RA.
Apolipoproteins/*genetics ; Arthritis, Rheumatoid/*genetics ; Case-Control Studies ; DNA/genetics ; Female ; *Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Heterozygote ; Homozygote ; Humans ; Lipocalins/*genetics ; Luciferases/metabolism ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/*genetics ; Promoter Regions, Genetic/*genetics ; Real-Time Polymerase Chain Reaction ; Risk Factors