• 수면정신생리
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• 제4권1호
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• pp.96-106
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• 1997

The clinical validity of a korean EEG and EP mapping system(Neuronics) was evaluated with schizophrenic patients(n=20), normal controls(n=19), and 10 patients with central nervous system disease(8 patients with cerebrovascular accident, 1 patient with brain mass, and 1 patient with periodic paralysis). In the normal control group, the pattern of resting computerized EEG with eyes closed showed normal parieto-occipital dominance of alpha wave. Compared with normal controls, schizophrenic patients had more delta activity in the frontal region, and less alpha activity especially in the parieto-occipital region. In most cases patients with cortical organic lesions(n=5) revealed increased delta and theta activity and decreased alpha activity on the lesion areas. These findings were compatible with their MRI and clinical findings. However in the cases of subcortical lesions(n=5) EEG showed various findings which suggest diverse influences of subcortical abnormalities on cortical activities. The P300 of schizophrenic group was smaller and more delayed than those of normal controls. These results are generally compatible with the previous studies using other EEG and EP mapping systems consequenty and suggest that the this EEG and EP mapping system(Neuronics) has clinical validity.

• Genomics & Informatics
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• 제7권4호
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• pp.181-186
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• 2009

Myotonic dystrophy type 1 (DM1), which is a dominantly inherited neurodegenerative disorder, results from a CTG trinucleotide repeat expansion in the 3'-untranslated region (3'-UTR) of the myotonic dystrophy protein kinase (DMPK) gene. Retention of mutant DMPK (mDMPK) transcripts in the nuclei of affected cells has been known to be the main cause of pathogenesis of the disease. Thus, reducing the RNA toxicity through elimination of the mutant RNA has been suggested as one therapeutic strategy against DM1. In this study, we suggested RNA replacement with a trans -splicing ribozyme as an alternate genetic therapeutic approach for amelioration of DM1. To this end, we identified the regions of mDMPK 3'-UTR RNA that were accessible to ribozymes by using an RNA mapping strategy based on a trans-splicing ribozyme library. We found that particularly accessible sites were present not only upstream but also downstream of the expanded repeat sequence. Repair or replacement of the mDMPK transcript with the specific ribozyme will be useful for DM1 treatment through reduction of toxic mutant transcripts and simultaneously restore wild-type DMPK or release nucleus-entrapped mDMPK transcripts to the cytoplasm.

• Communications for Statistical Applications and Methods
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• 제13권1호
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• pp.177-190
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• 2006

The aim of this study is to propose a Bayesian model for fitting mortality rate of colon cancer. For the analysis of mortality rate of a disease, factors such as age classes of population and spatial characteristics of the location are very important. The model proposed in this study allows the age class to be a random effect in addition to its conventional role as the covariate of a linear regression, while the spatial factor being a random effect. The model is fitted using Metropolis-Hastings algorithm. Posterior expected predictive deviances, standardized residuals, and residual plots are used for comparison of models. It is found that the proposed model has smaller residuals and better predictive accuracy. Lastly, we described patterns in disease maps for colon cancer.

• 한국양식학회지
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• 제18권2호
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• pp.130-132
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• 2005

Genomics research has two ultimate applied goals: to Isolate and clone genes of economic importance for bio-technology and gene-assisted selection (GAS), and to locate and use markers for marker-assisted selection (MAS) in selective breeding programs. To this end, we have identified linked markers for feed conversion efficiency growth rate, and disease resistance to enteric septicemia of catfish (ESC). Three microsatellite markers Ip266, Ip384, and Ip607 were identified to be linked to feed conversion efficiency. Similarly one marker each was identified to be linked to growth rate (Ip607) and disease resistance to ESC (Ip477). Ip607 marker linked to both growth rate and feed conversion efficiency, indicating that the QTL for both growth rate and feed conversion efficiency may either be the same or located in the same chromosomal region in the catfish genome. On phenotypic evaluation, certain traits such as growth rate can be accurately evaluated by body weight evaluation while other traits such as disease resistance can be quite complex. The linked DNA markers will be highly useful for MAS programs and for directing further efforts of genomic mapping for important quantitative traits.

• Journal of the Korean Data and Information Science Society
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• 제26권1호
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• pp.101-109
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• 2015

행정구역상 읍/면/동 단위의 소지역 (small area)별로 질병위험의 차이에 대한 분석을 위해, 2005년 기준 서울 행정동을 기준으로 2005년부터 2008년까지 질병, 사고, 암 사망자료에 대한 표준화 사망률 (SMR; standardized mortality rate)을 고려하였다. 소지역 단위로 질병사망률을 직접 추정하는 것은 소지역 내 표본수가 작아, 개발 소지역 단위에서의 직접 계산된 SMR은 그 추정치의 정도 (precision) 확보가 어려운 문제점이 발생한다. 따라서, 본 연구에서는 각 소지역간 효과 추정을 위해 공간적 상관성 (spatial correlation)을 가지는 다단계 일반화 선형모형 (HGLM; hierarchical generalized linear models)을 고려하였다. 이를 통해, 서울지역 동별 주요 사망원인에 따른 공변량의 효과 및 추정된 SMR을 근거로 질병지도 결과를 제시하였다.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권1호
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• pp.21-25
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• 2018

Fabry disease is a hereditary lysosomal storage disorder caused by the reduction or absence of lysosomal enzyme alpha-galactosidase A and the accumulation of glycosphingolipids, such as globotriaosylceramide (Gb3), in various organs, including the heart. The prevention of cardiac involvement in Fabry disease can only be achieved by enzyme replacement therapy (ERT), and the method of assessing the efficacy of ERT should be confirmed. Changes in the electrocardiogram, such as the shortening of PQ interval, prolongation of QTc and repolarization abnormalities as well as left ventricular hypertrophy in voltage criteria, can be used to identify Fabry disease patients; however, the usefulness of electrocardiograms for evaluating the efficacy of ERT is limited. The assessment of left ventricular hypertrophy using echocardiography has been established to evaluate the efficacy of ERT during long-term period. A new technique involving speckled tracking method might be useful for detecting early cardiac dysfunction and identifying the effect of ERT for a relatively short period. The estimation of left ventricular hypertrophy using cardiac magnetic resonance (CMR) is also useful for assessing the efficacy of ERT. Identifying late gadolinium enhancement in CMR may affect the effectiveness of ERT, and the new technique of T1 mapping might be useful for monitoring the accumulation of Gb3 during ERT. Histopathology in cardiac biopsy specimens is another potentially useful method for identifying the accumulation of GB3; however, the use of histopathology to evaluate of the efficacy of ERT is limited because of the invasive nature of an endomyocardial biopsy.

• Korean Journal of Radiology
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• 제24권12호
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• pp.1200-1220
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• 2023

Dilated cardiomyopathy (DCM) is one of the most common types of non-ischemic cardiomyopathy. DCM is characterized by left ventricle (LV) dilatation and systolic dysfunction without coronary artery disease or abnormal loading conditions. DCM is not a single disease entity and has a complex historical background of revisions and updates to its definition because of its diverse etiology and clinical manifestations. In cases of LV dilatation and dysfunction, conditions with phenotypic overlap should be excluded before establishing a DCM diagnosis. The differential diagnoses of DCM include ischemic cardiomyopathy, valvular heart disease, burned-out hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, and non-compaction. Cardiac magnetic resonance (CMR) imaging is helpful for evaluating DCM because it provides precise measurements of cardiac size, function, mass, and tissue characterization. Comprehensive analyses using various sequences, including cine imaging, late gadolinium enhancement imaging, and T1 and T2 mapping, may help establish differential diagnoses, etiological work-up, disease stratification, prognostic determination, and follow-up procedures in patients with DCM phenotypes. This article aimed to review the utilities and limitations of CMR in the diagnosis and assessment of DCM.

• 생물정신의학
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• 제1권1호
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• pp.60-66
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• 1994

Advances in molecular biology have renewed hope for the discovery of disease relevant gene. The basic strategy is gene mapping and likely to have on important role in psychiatric research and practice. Recent linkage studies of chromosomal loci to psychiatric diseases shed light on the potential for new genetics in psychiatric science. This article reviews molecular application to psychiatrymethodological issues in genetic linkage, study of gene expression by analysis of mRNA, and current linkage studies in psychiatric diseases.

• Genomics & Informatics
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• 제3권1호
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• pp.1-7
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• 2005

Case-control studies are widely used for disease gene mapping using individual genotyping data. However, analyses of large samples are often impractical due to the expense of individual genotyping. The use of DNA pooling can significantly reduce the number of genotyping reactions required; hence reducing the cost of large-scale case-control association studies. Here, we discuss the design and analysis of DNA pooling genetic association studies.

• Communications for Statistical Applications and Methods
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• 제6권3호
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• pp.781-790
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• 1999

In this paper we consider estimation of cancer incidence rates for local areas. The raw estimates usually are based on small sample sizes and hence are usually unreliable. A hierarchical Bayes generalized linear model is used which connects the local areas thereby enabling one to 'borrow strength' Random effects with pairwise difference priors model the spatial structure in the data. The methods are applied to cancer incidence estimation for census tracts in a certain region of the state of New York.