Treatments for patient with ankylosing spondylitis (AS) include non-steroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs) and anti-tumor necrosis factor-alpha (TNFalpha) agents. However, owing to the well-known nephrotoxicity of NSAIDs and some DMARDs, the use of these drugs is limited in AS patients with renal insufficiency. As the pharmacokinetics and metabolism of anti-TNFalpha agents in patients of end stage renal disease, especially those receiving peritoneal dialysis (PD), have not been investigated well, little is known about treating them with anti-TNFalpha agents. We described the safety and efficacy of etanercept, a soluble fusion protein comprising the TNF receptor 2 in linkage with the Fc portion of immunoglobulin G, in a 40-year-old male AS patient receiving PD.
Adult ; Anti-Inflammatory Agents, Non-Steroidal ; Antirheumatic Agents ; Humans ; Immunoglobulin G ; Kidney Failure, Chronic ; Male ; Metabolism ; Necrosis ; Peritoneal Dialysis* ; Pharmacokinetics ; Receptors, Tumor Necrosis Factor ; Renal Insufficiency ; Spondylitis, Ankylosing* ; Tumor Necrosis Factor-alpha ; Etanercept

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

To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population, and identified that chromosomal losses on 8p23.1 and on 17p11.2 are significantly associated with autism. In this study, we developed an 8.5K ASD-specific BAC array covering 27 previously reported ASD-associated CNV loci including ours and examined whether the associations would be replicated in 8 ASD patient cell lines of four different ethnic groups and 10 Korean normal controls. As a result, a CNV-loss on 8p23.1 was found to be significantly more frequent in patients regardless of ethnicity (p<0.0001). This CNV region contains two coding genes, DEFA1 and DEFA3, which are members of DEFENSIN gene family. Two other CNVs on 17p11.2 and Xp22.31 were also distributed differently between ASDs and controls, but not significant (p=0.069 and 0.092, respectively). All the other loci did not show significant association. When these evidences are considered, the association between ASD and CNV of DEFENSIN gene seems worthy of further exploration to elucidate the pathogenesis of ASD. Validation studies with a larger sample size will be required to verify its biological implication.
Autistic Disorder ; Cell Line ; Child ; Clinical Coding ; Coat Protein Complex I ; Comparative Genomic Hybridization ; Ethnic Groups ; Genetic Markers ; Humans ; Sample Size ; Autism Spectrum Disorder

The purpose of this paper is to provide reference data related to the body weight, food & water consumptions, urinalysis, hematology and serum biochemistry parameters and absolute & relative organ weights obtained from control Sprague-Dawley rats, used in the 4-week and 13-week repeated-dose toxicity studies conducted in our laboratory between 2005 and 2008. The mean, standard deviation, minimum and maximum range values for hematology and serum biochemistry parameters, data of absolute & relative organ weights, and the difference between sexes and study duration of week 4 versus 13 week are presented. The studies were conducted according to "the standards of Toxicity Study for Medicinal Products" (2005) and The KFDA Notification No. 2000-63 'Good Laboratory Practice (GLP)' (2000) issued by KFDA. These data could be used as reference material of Sprague-Dawley rats by conducting the studies to evaluate the toxicological profile of pre-clinical toxicity studies.
Biochemistry ; Body Weight ; Hematology ; Organ Size ; Rats, Sprague-Dawley ; Urinalysis ; Water

Kaposi's sarcoma (KS) is an unusual multifocal neoplasm of vascular endothelial cell origin. The trunk, arms, head, and neck are the most common sites. It is common in men and has four distinct variants: classic, Africa-endemic, immunosuppressive drug-associated, and acquired immunodeficiency syndrome-associated KS. KS appears to develop immunosuppressed patients, but is uncommon in patients on dialysis. A 79-year-old man on hemodialysis for 2 months presented with pruritus over the entire body and multiple, discrete, variable-sized, dark blue papulonodules (papuloplaques, maculopapules) on the left arm and shoulder. A biopsy specimen form the left arm showed spindle cells with slit-like spaces and extravasated red blood cells. The specimen was positive for CD 34 antigen, and human herpesvirus 8 was detected. We report a case of KS that occurred in a 79-year-old patient on hemodialysis.
Aged ; Arm ; Biopsy ; Dialysis ; Endothelial Cells ; Erythrocytes ; Head ; Herpesvirus 8, Human ; Humans ; Male ; Neck ; Pruritus ; Renal Dialysis ; Sarcoma, Kaposi ; Shoulder

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

PURPOSE: Adequate hemostasis in thyroidectomy is important to reduce postoperative complications including bleeding and hematoma. The object of this study was to evaluate the utility of thyroidectomy using ultrasonically activated shears. METHODS: This was a prospective randomized controlled study. It was conducted on 95 patients who underwent total thyroidectomy between January and March 2009. Patients were divided into two groups according to operation method used: group A (n=49) underwent total thyroidectomy using ultrasonically activated shears, group B (n=46) involved the conventional clamp and tie maneuver. Comparisons included operation time, drain amount, hospitalization, postoperative complications and off-thyroglobulin. RESULTS: The two groups had no significant differences regarding drain amount, hospitalization, postoperative complications and off-thyroglobulin. Operation time was statistically shorter in group A than group B (96.6±22.7 min vs 114.6±24.3 min) (P=.00). CONCLUSION: Thyroidectomy using ultrasonically activated shears reduces operation time significantly, and enables a complete and safe operation without postoperative complications. We recommend the use of ultrasonically activated shears in thyroidectomy.
Hematoma ; Hemorrhage ; Hemostasis ; Hospitalization ; Humans ; Methods ; Postoperative Complications ; Prospective Studies* ; Thyroidectomy*

A desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm that occurs predominantly in children and young men. It presents as a large mass inside the abdomen, particularly within the pelvis, and may be accompanied by extensive tumor implants throughout the peritoneum. Microscopically, it typically appears as nests of small undifferentiated cells within a desmoplastic stroma. A DSRCT shows a special immunohistochemical staining pattern, expressing epithelial, neural, and muscle markers. A DSRCT is associated with a specific chromosomal translocation, t (11;22) (p13;q12), resulting in a chimeric EWS/WT1 transcript that is helpful for diagnosing this tumor. We experienced a case of DSRCT in a 19-year-old man who had been diagnosed with Down's syndrome.
Abdomen ; Child ; Desmoplastic Small Round Cell Tumor ; Down Syndrome ; Humans ; Male ; Muscles ; Pelvis ; Peritoneum ; Translocation, Genetic ; Young Adult

Posttraumatic high-flow communications between the intracavernous internal carotid artery (ICA) and the cavernous sinus may give rise to two different pathological entities. A connection from the intracavernous ICA system can theoretically connect with two different structures; the vein of the plexus (CCF) or the perivascular bare spaces between the veins (pseudoaneurysm). A CCF and a pseudoaneurysm can be present in the same patient. A 24-year-old man was admitted to our hospital due to sudden mental deterioration. Carotid angiography revealed a CCF, which had occurred after a trauma 5 years earlier, associated with left visual disturbance and skull base fractures. The treatment of choice was permanent coil occlusion of the intracavernous ICA at the level of the lesion. The collateral circulation was evaluated before the endovascular treatment using a balloon test occlusion (BTO). During the BTO, adequate collateral circulation was defined as symmetric angiographic filling of both hemispheres. A continuous neurological examination was performed during the procedure. The follow-up angiography showed a persistent aneurysm occlusion. We report our experience of the successful endovascular treatment of combined lesions with a review of the relevant literature.
Aneurysm ; Aneurysm, False* ; Angiography ; Carotid Artery, Internal ; Cavernous Sinus ; Collateral Circulation ; Fistula* ; Follow-Up Studies ; Humans ; Neurologic Examination ; Skull Base ; Veins ; Young Adult

A nine-year old boy was found unconscious by his father in his apartment house. He was transferred to the emergency unit immediately but resuscitation was failed. Drain cleansing was performed just before the deceased came home. The father stated that there was foul odor in the house when he opened the door. The autopsy finding showed only nonspecific findings including severe pulmonary edema. Significant amount of sulfide ion was detected from blood and brain tissue. The cause of death was concluded as hydrogen sulfide poisoning.
Autopsy ; Brain ; Cause of Death ; Emergency Service, Hospital ; Fathers ; Humans ; Hydrogen Sulfide* ; Hydrogen* ; Male ; Odors ; Poisoning* ; Pulmonary Edema ; Resuscitation