• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.15-19
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• 2002

Disorders resulting from defects in peroxisomal biogenesis include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. The three diseases are now considered as a continuum of clinical features. Neonatal adrenoleukodystrophy is intermediate between Zellweger syndrome and infantile Refsum disease in severity, and is characterized by profound hypotonia, intractable seizures and premature death. We report a cases of neonatal adrenoleukodystrophy presenting with neonatal seizure and hypotonia. At the age of 43 months, she had clinical evidence of adrenal insufficiency with skin hyperpigmentation and electrolyte imbalance. She was diagnosed having neonatal adrenoleukodystrophy based on abnormally high levels of plasma very long-chain fatty acids, pipecolic acid and phytanic acid.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.25-30
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• 2015

Purpose: Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy mainly divided into CMT type 1 (CMT1) and CMT2 according to the phenotype and genotype. Although molecular pathologies for each genetic causative have not been revealed in CMT2, the correlation between cell death and accumulation of misfolded proteins in the endoplasmic reticulum (ER) of Schwann cells is well documented in CMT1. Establishment of in vitro models of ER stress-mediated Schwann cell death might be useful in developing drug-screening systems for the treatment of CMT1. Materials and Methods: To develop high-throughput screening (HTS) systems for CMT1, we generated cell models using transient expression of mutant proteins and chemical induction. Results: Overexpression of wild type and mutant peripheral myelin protein 22 (PMP22) induced ER stress. Similar results were obtained from mutant myelin protein zero (MPZ) proteins. Protein localization revealed that expressed mutant PMP22 and MPZ proteins accumulated in the ER of Schwann cells. Overexpression of wild type and L16P mutant PMP22 also reduced cell viability, implying protein accumulation-mediated ER stress causes cell death. To develop more stable screening systems, we mimicked the ER stress-mediated cell death in Schwann cells using ER stress inducing chemicals. Thapsigargin treatment caused cell death via ER stress in a dose dependent manner, which was measured by expression of ER stress markers. Conclusion: We have developed genetically and chemically induced ER stress models using Schwann cells. Application of these models to HTS systems might facilitate the elucidation of molecular pathology and development of therapeutic options for CMT1.

• Journal of Environmental Health Sciences
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• v.45 no.3
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• pp.247-257
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• 2019

Objectives: The Korea Ministry of Environment regulates concentrations of hazardous air pollutants (HAPs) through Atmosphere Environmental Standards to protect public health from HAPs. However, simply determining the exceedance of HAP concentrations has several limitations and more comprehensive assessment is required. In addition, integrated risk assessment is needed considering exposure in all microenvironments, including outdoor as well as indoor environments. The purpose of this study was to assess the differences in risk by sub-population groups according to time-activity patterns and reported concentrations, as well as the lifetime risk for Koreans. Methods: In this study, we calculated time-weighted average exposure concentrations for benzene and $PM_{10}$ among preschool-age children, students, housewifes, workers, and the elderly using residential time and concentrations for indoor (house, school or workplace, other), outdoor, and transport by the meta-analysis method. The risk assessments were conducted by excess cancer risk and disease death risk using 1,000,000 Monte-Carlo simulations for probabilistic analysis. Results: Preschool-age children, students, housewifes, workers, and the elderly spent 91.9, 86.0, 79.8, 82.2, and 77.3% of their day in their house, workplace, or school, respectively. The more than 99% excess cancer risk for benzene exceed 1.0E-06 in all sub-populations and lifetime. The acute disease death risk for $PM_{10}$ for housewifes and workers for lifetime were 3.35E-04 and 3.18E-04, and chronic disease death risks were 2.84E-03 and 2.70E-03, respectively. Conclusions: The risk of benzene and $PM_{10}$ by sub-population group and for the lifetime of housewifes and workers were assessed. Benzene showed risky results for this study. All disease death risks of $PM_{10}$ were higher than 1.0E-04 and showed different risks by sub-population. This study can be used as a basis for lifetime exposure and risk assessment to benzene and $PM_{10}$.

• Journal of Digital Convergence
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• v.19 no.3
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• pp.295-302
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• 2021

The purpose of this paper is to pay attention to the problems of the elderly in our society, which is facing an aged society, to understand the lives of the elderly and to recognize the need for retirement and death preparation. It reviews and analyzes the story of So-young, the main character of the movie "Killing Woman," according to the context of the work. The narrative of the film illustrates the problems of suffering for the elderly, such as poverty, disease, dementia, loneliness, and fear of death. In the face of the ultra-aged era, institutional supplementation measures for underprivileged senior citizens at the national level should be established, and social interest and safety nets should be secured, and specific retirement preparations are needed personally. Furthermore, support for research and education of old age preparation education programs and death education programs to prepare for retirement and death should be continuously provided.

• Clinical and Experimental Pediatrics
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• v.53 no.5
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• pp.639-643
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• 2010

Purpose: Hand-foot-mouth disease (HFMD) is a common viral illness in children, which is usually mild and self-limiting. However, in recent epidemics of HFMD in Asia, enterovirus 71 (EV71) has been recognized as a causative agent with severe neurological symptoms with or without cardiopulmonary involvement. HFMD was epidemic in Korea in the spring of 2009. Severe cases with complications including death have been reported. The clinical characteristics in children with neurologic manifestations of EV71 were studied in Ewha Womans University Mokdong Hospital. Methods: Examinations for EV71 were performed from the stools, respiratory secretion or CSF of children who presented neurologic symptoms associated with HFMD by realtime PCR. Clinical and radiologic data of the patients were collected and analyzed. Results: EV71 was isolated from the stool of 16 patients but not from respiratory secretion or CSF. Among the 16 patients, meningitis (n=10) was the most common manifestation, followed by Guillain-Barre syndrome (n=3), meningoencephalitis (n=2), poliomyelitis-like paralytic disease (n=1), and myoclonus (n=1). Gene analysis showed that most of them were caused by EV71 subgenotype C4a, which was prevalent in China in 2008. Conclusion: Because EV71 causes severe complications and death in children, a surveillance system to predict upcoming outbreaks should be established and maintained and adequate public health measures are needed to control disease.

• Journal of Environmental Health Sciences
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• v.38 no.2
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• pp.166-174
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• 2012

Introduction: After 17 years since the first production of humidifier disinfectants in Korea, Korea Centers for Disease Control and Prevention (KCDC) announced that the odds ratio of lung injury related with humidifier disinfectant usage was 47.3 (95% confidence interval 6.0-369.7) according to a case-control study with 18 adult cases, including 8 pregnant women at a university hospital in Seoul. Results: From September 2011 to April 2012, one-hundred and seventy four victim cases have been reported to an environmental non-governmental group (NGO). We summarized timetable of humidifier disinfectants accidents, analyzed health outcomes (death, lung or lung and heart transplantation, pulmonary disease) of reported victims, and classified some information for humidifier disinfectants with health outcomes, and government action for this accident. Among the victims, number of death cases are 52 (30.0%), including 26 babies less than 3 years old. Sixty-nine victims come from twenty-seven family with 2 to 4 members per family. About twenty types of humidifier disinfectant products and about 600,000 product items a year have been sold. Fifty-two death cases used 7 different types of disinfectant products, including imported goods and some private brands of well-known supermarkets. KCDC confirmed inhalation toxicity of 6 products through an animal experimental test, and based on this observation recalled disinfectants containing PHMG (polyhexamethylene guanidine) and PGH (Oligo(2-(2-ethoxy)ethoxyethyl guanidinium chloride). Discussions: The use of these biocides involved highly fatal consequences among biologically vulnerable victims, such as pregnant women, several family member victims after semi-acute exposure. This is the first biocide disaster in Korea with non-specific targets, and unknown scale of victims, warranting concerns on use of biocides in the living environment. Conclusions: Special administrative agency for chemical safety and compensation act for environmental health victims are needed to prevent similar problems.

• Molecules and Cells
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• v.37 no.9
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• pp.672-684
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• 2014

The exact causes of cell death in Parkinson's disease (PD) remain unknown despite extensive studies on PD.The identification of signaling and metabolic pathways involved in PD might provide insight into the molecular mechanisms underlying PD. The neurotoxin 1-methyl-4-phenylpyridinium ($MPP^+$) induces cellular changes characteristic of PD, and $MPP^+$-based models have been extensively used for PD studies. In this study, pathways that were significantly perturbed in $MPP^+$-treated human neuroblastoma SH-EP cells were identified from genome-wide gene expression data for five time points (1.5, 3, 9, 12, and 24 h) after treatment. The mitogen-activated protein kinase (MAPK) signaling pathway and endoplasmic reticulum (ER) protein processing pathway showed significant perturbation at all time points. Perturbation of each of these pathways resulted in the common outcome of upregulation of DNA-damage-inducible transcript 3 (DDIT3). Genes involved in ER protein processing pathway included ubiquitin ligase complex genes and ER-associated degradation (ERAD)-related genes. Additionally, overexpression of DDIT3 might induce oxidative stress via glutathione depletion as a result of overexpression of CHAC1. This study suggests that upregulation of DDIT3 caused by perturbation of the MAPK signaling pathway and ER protein processing pathway might play a key role in $MPP^+$-induced neuronal cell death. Moreover, the toxicity signal of $MPP^+$ resulting from mitochondrial dysfunction through inhibition of complex I of the electron transport chain might feed back to the mitochondria via ER stress. This positive feedback could contribute to amplification of the death signal induced by $MPP^+$.

• Korean Circulation Journal
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• v.48 no.11
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• pp.989-999
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• 2018

Background and Objectives: We aimed to compare outcomes of complete revascularization (CR) versus culprit-only revascularization for ST-segment elevation myocardial infarction (STEMI) and multivessel disease (MVD) in the $2^{nd}$ generation drug-eluting stent (DES) era. Methods: From 2009 to 2014, patients with STEMI and MVD, who underwent primary percutaneous coronary intervention (PCI) using a $2^{nd}$ generation DES for culprit lesions were enrolled. CR was defined as PCI for a non-infarct-related artery during the index admission. Major adverse cardiovascular event (MACE) was defined as cardiovascular (CV) death, non-fatal myocardial infarction, target lesion revascularization, or heart failure during the follow-up year. Results: In total, 705 MVD patients were suitable for the analysis, of whom 286 (41%) underwent culprit-only PCI and 419 (59%) underwent CR during the index admission. The incidence of MACE was 11.5% in the CR group versus 18.5% in the culprit-only group (hazard ratio [HR], 0.56; 95% confidence interval [CI], 0.37-0.86; p<0.01; adjusted HR, 0.64; 95% CI, 0.40-0.99; p=0.04). The CR group revealed a significantly lower incidence of CV death (7.2% vs. 12.9%; HR, 0.51; 95% CI, 0.31-0.86; p=0.01 and adjusted HR, 0.57; 95% CI; 0.32-0.97; p=0.03, respectively). Conclusions: CR was associated with better outcomes including reductions in MACE and CV death at 1 year of follow-up compared with culprit-only PCI in the $2^{nd}$ generation DES era.

• Health Policy and Management
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• v.31 no.1
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• pp.100-113
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• 2021

Background: This study aims to figure out the gaps in health status by estimating amenable mortality rate by region, reflecting the characteristics of Korea, and estimating the years of life lost (YLL) per capita by disease. Methods: People who died from amenable diseases between 2008 and 2018 were extracted from the cause of death statistics provided by Statistics Korea. The age-standardized amenable mortality rates were estimated to compare the health status of 229 regions. YLL per capita was calculated to compute the burden of diseases caused by treatable deaths by region. The YLL per capita by region was calculated to identify the burden of disease caused by amenable deaths. Results: First, while the annual amenable mortality rate in Korea is on a steady decline, but there is still a considerable gap between urban and rural areas when comparing the mortality rates of 229 areas. Second, YLL per capita due to the amenable deaths is approximately 14 person-years during the analysis period (2008-2018). Conclusion: Although the health status of Koreans has continuously improved, there is still a gap in health status region by region in terms of amenable mortality rates. Amenable death accounts for a loss of life equivalent to 14 person-years per year. Since the amenable mortality rate is an indicator that can measure the performance of the health care system, efforts at each local area are required to lower it.

• Journal of Korean Medical classics
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• v.23 no.2
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• pp.157-189
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• 2010

Many chapters of the Hwangjenaegyeong[HN] explain the process of transmission and transmutation of disease. The transmission and transmutation process in the HN can be categorized into one between the viscera and bowels, and another of the external pathogenic gi itself. The process between the viscera and bowels indicates the transport of the pathologic burden between each viscera and bowel. This again is categorized into three types. Interpromoting, intercontrolling and that by Saeng-yang(生陽), Sa-eum(死陰). Next, the transport of the pathogenic gi can be categorized into one moving inwards from the exterior according to personal traits, and that according to the three Eum and three Yang. Although there are numerous types of transmission and transmutation, there are two main criteria in understanding the process. First, whether the process is in accordance with the physiological or natural flow of the body. Interpromoting and three Eum three Yang processes are such examples. To follow the physiological flow of the body means to correspond to either the Heaven and Earth or the original physiology of the human body. Therefore, the disease progresses according to a certain date or season. This indicates a partial malfunction in the circulation of the vital energy, which is relatively easy to recover. In contrast, there are processes that go against the physiological flow, for example, intercontrolling transmission and transmutation. This process focuses on the movement of the pathogenic gi rather than the vital gi. The disease progresses regardless of the flow of the vital energy, and sequential functional damage occurs accordingly. Consequently, as the transmission and transmutation continue, formerly passed organs are left damaged, and the whole process is headed towards death. The second criteria for understanding the process is whether it is cyclic or not. To have a cyclic pattern means that the occurrence of a disease and the time of death is not fixed. Transmission and transmutation processes that have a cyclic pattern mostly follow the physiological flow of the body. As a result, they rarely end in deaths, and the process is centered on vital energy. On the other hand, those with acyclic patterns have a fixed occurrence and death point in the course of the disease. They are mostly unnatural processes, found in fatal acute diseases or consumption diseases.