In recent study, exercise hypertension is associated with a lower adjusted mortality rate and is likely to a good prognostic sign, although its clinical significance is uncertain. The purpose of this investigation was to study exercise hypertensive reaction and to search its related factors. From June. 1st to Aug. 31st 1996, 108 males, mean age 41.5years(range, 20~70) attended the exercise stress test as volunteers during checking-up of health & disease at Health Service Center of Kwang-ju Christian hospital. The exercise stress test using stationary leg bicycle was done until the examiner were exhausted, at which we measured peak exercise systolic blood pressure & Pulse rate. The results are shown as follows. Exercise hypertension was present in 22 subjects(20.0% ). Including age, body mass index, RPE scales at 70% maximal heart rate, rate of level of elevation of heart rate during exercise, no significant related factors associated with exercise hypertension was present by the discriminant analysis. Multivariate regression analysis demonstrated that exercise-induced increase in systolic blood pressure was positively correlated with only resting systolic pressure(r=0.101, p less than 0.01). RPE(Rating of Perceived Exertion) scales was 18.05+/-1.31 when pulse rate of the examiner was reached to 70% of rnaximal heart rate(220-age (years) ). In conclusion, no significant related factor associated with exercise hypertension was presents, but exercise-induced increase of systolic blood pressure was positively correlated with only resting systolic pressure.
Blood Pressure ; Body Mass Index ; Exercise Test ; Gwangju ; Health Services ; Heart ; Heart Rate ; Humans ; Hypertension* ; Leg ; Male ; Mortality ; Volunteers ; Weights and Measures

Some cases of renal malignancy associated with adult (autosomal dominant) polycystic kidney disease have been reported. Most of these malignancies were diagnosed as renal cell carcinoma. But the case of transitional cell carcinoma has not been reported. We report a case of renal pelvic and urethral transitional cell carcinoma associated with adult polycystic kidney.
Adult* ; Carcinoma, Renal Cell ; Carcinoma, Transitional Cell* ; Humans ; Kidney ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant*

We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in related studies, we built a database, cataloging the CNVs and related information. This system helps researchers browsing these variants with gene and structure variant annotations. Users can easily find specific regions with search options and verify them from system-integrated genome browsers with annotations.
Asian Continental Ancestry Group ; Cataloging ; Coat Protein Complex I ; Genome ; Humans

Recently, the detection of traumatic intracerebral hematoma has been greatly expedited by the advent of computed tomography. However, Traumatic Basal Ganglia Hematoma(TBGH) has remained rare and its prognosis has been regarded as poor. The authors obtained following results from the analysis of clinical features and outcome on 50 cases of TBGH who has been treated at the department of neurosurgery, Wonju Christian Hospital from January, 1984 to June, 1988. 1) The incidence of TBGH was 2% of all head-injured patients. 2) The average age of patient was 26.6 years, and the most common cause was motorvehicular accident(80%). 3) The clinical features revealed mental deterioration on 44 cases, followed by motor weakness(23 cases), and decerebrate rigidity(16 cases). 4) The frequent location of hematoma was putamen(27 cases, >50%), internal capsule(9 cases, 14%). 5) The combined lesion showed mostly lower GCS(Glasgow Coma Scale) than solitary lesion(P<0.001). 6) The groups of both GCS above 8(P<0.001) and small hematoma volume below < 15ml(P<0.001) showed relatively good outcome.
Basal Ganglia* ; Coma ; Gangwon-do ; Hematoma ; Humans ; Incidence ; Neurosurgery ; Prognosis

Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered. Although the examination of relatively large numbers of specific ethnic groups has recently started in regard to inter-ethnic group differences in CNVs, identifying and understanding particular instances of natural selection have not been performed. The traditional FST measure, obtained from differences in allele frequencies between populations, has been used to identify CNVs loci subject to geographically varying selection. Here, we review advances and the application of multinomial-Dirichlet likelihood methods of inference for identifying genome regions that have been subject to natural selection with the FST estimates. The contents of presentation are not new; however, this review clarifies how the application of the methods to CNV data, which remains largely unexplored, is possible. A hierarchical Bayesian method, which is implemented via Markov Chain Monte Carlo, estimates locus-specific FST and can identify outlying CNVs loci with large values of FST. By applying this Bayesian method to the publicly available CNV data, we identified the CNV loci that show signals of natural selection, which may elucidate the genetic basis of human disease and diversity.
Bayes Theorem ; Coat Protein Complex I ; DNA Copy Number Variations ; Ethnic Groups ; Gene Frequency ; Genome ; Humans ; Markov Chains ; Selection, Genetic

Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered. Although the examination of relatively large numbers of specific ethnic groups has recently started in regard to inter-ethnic group differences in CNVs, identifying and understanding particular instances of natural selection have not been performed. The traditional FST measure, obtained from differences in allele frequencies between populations, has been used to identify CNVs loci subject to geographically varying selection. Here, we review advances and the application of multinomial-Dirichlet likelihood methods of inference for identifying genome regions that have been subject to natural selection with the FST estimates. The contents of presentation are not new; however, this review clarifies how the application of the methods to CNV data, which remains largely unexplored, is possible. A hierarchical Bayesian method, which is implemented via Markov Chain Monte Carlo, estimates locus-specific FST and can identify outlying CNVs loci with large values of FST. By applying this Bayesian method to the publicly available CNV data, we identified the CNV loci that show signals of natural selection, which may elucidate the genetic basis of human disease and diversity.
Bayes Theorem ; Coat Protein Complex I ; DNA Copy Number Variations ; Ethnic Groups ; Gene Frequency ; Genome ; Humans ; Markov Chains ; Selection, Genetic

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

Hypernatremia is a rare cause of rhabdomyolysis. Here, we report a case of hypernatremia-induced rhabdomyolysis in a patient with meningioma involving the pituitary gland. A 61-year-old male was admitted for decreased mentality and poor oral intake. He had undergone an operation for meningioma 10 years prior. At admission, he appeared lethargic and severely dehydrated with an initial sodium level of 178 mEq/L. Hypernatremia remained persistent despite massive hydration and the serum creatine phosphokinase level was 18,047 U/L after 3 days. Bone scintigraphy also showed findings consistent with rhabdomyolysis. Brain magnetic resonance imaging revealed extensive masses involving the pituitary gland and an intranasal biopsy confirmed meningioma. Polyuria, and low anti-diuretic hormone levels supported the diagnosis of central diabetes insipidus-induced hypernatremia. Desmopressin was administered intranasally and the patient's serum sodium and muscle enzyme levels were normalized.
Biopsy ; Brain ; Creatine Kinase ; Deamino Arginine Vasopressin ; Diabetes Insipidus ; Diagnosis ; Humans ; Hypernatremia ; Magnetic Resonance Imaging ; Male ; Meningioma* ; Middle Aged ; Pituitary Gland* ; Polyuria ; Radionuclide Imaging ; Rhabdomyolysis* ; Sodium

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

Primary lymphoma of the small intestine is commonly diagnosed after serious complications, such as bowel perforation and bleeding. It results from vague symptoms and the lack of routine screening programs due to low prevalence. Ileal intubation can be used for screening and diagnosis of various small intestinal diseases. However, the value of routine terminal ileum intubation during colonoscopy remains controversial because of its low diagnostic yield. In Korea, there has been no report of asymptomatic primary lymphoma of the small intestine discovered through ileal intubation during colonoscopy. Thus, we report a case of asymptomatic primary lymphoma of the small intestine diagnosed incidentally through terminal ileum intubation during screening colonoscopy, and we review the literature on small intestinal lymphoma and the value of routine ileal intubation.
Colonoscopy* ; Diagnosis ; Endoscopy ; Hemorrhage ; Ileum ; Intestinal Diseases ; Intestine, Small ; Intubation* ; Korea ; Lymphoma* ; Mass Screening* ; Prevalence