No abstract available.
Hair Follicle* ; Hair* ; Humans*

No abstract available.
Hair Follicle* ; Hair* ; Humans*

OBJECTIVES: Urocanase domain containing 1 (UROC1) has never been studied in prior studies on autism spectrum disorders (ASDs). UROC1 causes urocanic aciduria, one of the symptoms of which is mental retardation. The aim of this study was to investigate the association between the UROC1 gene and ASDs in a Korean population. METHODS: A total of 258 control and 214 patients with ASD were used as subjects of this study. SNPs selected from UROC1 were genotyped using Illumina Golden-Gate Genotyping assay with VeraCode(R) technology. Statistical analysis was performed using SAS and Plink software. RESULTS: We found no association of the 12 SNPs in the UROC1 gene with ASDs in a Korean population. CONCLUSION: Our study suggests that the 12 SNPs (11 SNPs and 1 SNP in the intron and 3'UTR region, respectively) in the UROC1 were not associated with ASDs in a Korean population. Further study on the exon region of UROC1 is needed.
3' Untranslated Regions ; Autistic Disorder ; Child ; Autism Spectrum Disorder ; Exons ; Humans ; Intellectual Disability ; Introns ; Phenothiazines ; Polymorphism, Single Nucleotide ; Urocanate Hydratase

OBJECTIVES: The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. METHODS: Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. RESULTS: All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. CONCLUSION: Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.
Alleles ; Autistic Disorder ; Child ; Autism Spectrum Disorder ; DNA ; Genotype ; Humans ; Logistic Models ; Phenothiazines ; Polymorphism, Single Nucleotide

OBJECTIVES: The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. METHODS: Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. RESULTS: All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. CONCLUSION: Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.
Alleles ; Autistic Disorder ; Child ; Autism Spectrum Disorder ; DNA ; Genotype ; Humans ; Logistic Models ; Phenothiazines ; Polymorphism, Single Nucleotide

OBJECTIVES: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormalities of social functioning, communication and behavior. The association of the 7q21-34 region with ASD has been reported. The DLX6 gene, which is located at the 7q22 region, is one of the positional and functional candidate genes for ASD. We found that there is no association between DLX6 polymorphisms and ASD in the Korean male population. METHODS: We selected three single nucleotide polymorphisms (SNPs) that might be implicated in the change of the DLX6 gene expression. The genomic DNA was collected from the venous blood of 147 male controls and 179 male patients with ASD. The genotypes of the selected SNPs were determined using the Illumina GoldenGate assay, and the statistical analyses were performed using HapAnalyzer software and SAS Enterprise. RESULTS: We found no association of the three SNPs in the DLX6 gene with ASD in the Korean male population. CONCLUSION: Our study suggests that the three SNPs in the DLX6 gene are not associated with ASD, and we need to analyze the previously reported regions for their associations with ASD.
Autistic Disorder ; Child ; Autism Spectrum Disorder ; DNA ; Gene Expression ; Genotype ; Humans ; Male ; Phenothiazines ; Polymorphism, Single Nucleotide

A patient, with severe chest pain and isolated ST segment elevation, was evaluated in order to differentiate ischemic heart disease, such as acute myocardial infarction. A fishhook was incidentally found during coronary angiography, chest CT and esophagoscopy. With this information, the patient was re-interviewed, and it was learned that the patient had swallowed the fishhook from cooked fish after fishing trip. The patient was diagnosed as traumatic acute pericarditis with acute mediastinitis, associated with esophageal and pericardial perforation. The patient was successfully treated by surgical treatment drainage and adequate antibiotic use. We report a case of traumatic acute pericarditis, which mimicked an acute myocardial infarction, with a review of the literature.
Chest Pain ; Coronary Angiography ; Deglutition* ; Drainage ; Esophagoscopy ; Humans ; Mediastinitis ; Myocardial Infarction* ; Myocardial Ischemia ; Pericarditis* ; Tomography, X-Ray Computed

No abstract available.
Echocardiography* ; Humans ; Mitral Valve*

OBJECTIVES: Hypertrophic cardiomyopathy (HCM) has been of great interest to clinicians because of its diverse clinical, morphologic, pathophysiologic and molecular genetic manifestations. We investigated the frequencies and clinical manifestations according to the types in Maron's classification of HCM. METHODS: Patients with HCM who were seen at our institution from June 1999 to July 2001 were retrospectively reviewed. Echocardiographic patterns were classified by Maron's classification. RESULTS: Of 62 patients (M/F=39/23, 56+/-14.8 years), 6 patients (9.7%) were type I (relatively mild left ventricular hypertrophy confined to the anterior portion of ventricular septum), 10 patients (16.1%) were type II (hypertrophy of the anterior and posterior septum in the absence of free-wall thickening), 25 patients (40.3%) were type III (diffuse hypertrophy of substantial portion of both the ventricular septum and anterolateral free wall), 1 patients (1.6%) were type IV (hypertrophy in the posterior septum or anterolateral free wall) and 20 patients (32.3%) were type V (apical hypertrophy). Compared with western countries in which the type III was most common, type III was also most common in Korea, but type V was more common in Korea. Systolic anterior motion of mitral leaflet (SAM) were noted in 12 patients in which 10 patients had type III. 43 of 62 patients (69.4%) had chest pain (33.9%), dyspnea on exertion (30.6%), palpitation (1.6%) and syncope (3.2%). 19 of 62 patients (30.6%) had no subjective symptoms, and there was no significant statistical difference between types. Three of 62 patients had anomalous insertion of papillary muscle at mitral valve. SUMMARY: The most common type was type III, and SAM was found mostly in type III. Anomalous insertion of papillary muscle was noted in 3 out of 62 cases. There was no differences in subjective symptom between the types.
Cardiomyopathy, Hypertrophic* ; Chest Pain ; Classification ; Dyspnea ; Echocardiography* ; Humans ; Hypertrophy ; Hypertrophy, Left Ventricular ; Korea ; Mitral Valve ; Molecular Biology ; Papillary Muscles* ; Retrospective Studies ; Syncope ; Ventricular Septum

A spontaneous coronary artery dissection is a rare cause of acute myocardial ischemia. However, its precise etiology, pathogenesis, prevalence and treatment is unclear. The clinical presentation of a spontaneous coronary artery dissection can be sudden death or an acute coronary syndrome and sometimes no symptoms are present. We report a case of a 39-year-old man with a spontaneous coronary artery dissection in the right coronary artery. He presented with a history of chest pain persisting for 4 hours. The initial electrocardiogram showed a ST segment elevation in lead II III and aVF. He received intravenous urokinase, but no improvement in his symptoms was observed and the electrocardiographic changes did not resolve. A rescue coronary angiogram was performed, which demonstrated an area of dissection in the distal right coronary artery with resultant TIMI II flow. A 3.5x36 mm MAC stent was deployed across the lesion. After implanting the stent, the remainder of his stay was uncomplicated and he has remained asymptomatic at the time of this review.
Acute Coronary Syndrome ; Adult ; Chest Pain ; Coronary Vessels* ; Death, Sudden ; Electrocardiography ; Humans ; Myocardial Infarction* ; Myocardial Ischemia ; Prevalence ; Stents ; Urokinase-Type Plasminogen Activator