• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.9-13
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• 2017

Tandem mass spectrometry and other new technologies for the multiplex and quantitative analysis of dried blood spots have emerged as powerful techniques for the early screening and assessment of newborns for lysosomal storage diseases (LSDs). Screening newborns for these diseases is important, since treatment options, including enzyme replacement therapy or hematopoietic transplantation, are available for some LSDs, such as infant-onset Pompe disease, Fabry disease, some types of mucopolysaccharidoses (MPSs), and Krabbe disease. For these diseases, early initiation of treatment, before symptoms worsen, often leads to better clinical outcomes. Several problems, however, are associated with newborn screening for LSDs, including the development of accurate test methods to reduce low false-positive rates and treatment guidelines for late-onset or mild disease variants, the high costs associated with multiplex assays, and ethical issues. In this review, we discuss the history, current status, and ethical problems associated with the newborn screening for LSDs, including MPSs.

• Journal of Korean Neurosurgical Society
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• v.51 no.6
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• pp.367-369
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• 2012

Terson syndrome was originally used to describe a vitreous hemorrhage arising from aneurysmal subrarachnoid hemorrhage. Terson syndrome can be caused by intracranial hemorrhage, subdural or epidural hematoma and severe brain injury but is extremely rare in intraventricular hemorrhage associated with moyamoya disease. A 41-year-old man presented with left visual disturbance. He had a history of intraventicular hemorrhage associated with moyamoya disease three months prior to admission. At that time he was in comatose mentality. Ophthalmologic examination at our hospital detected a vitreous hemorrhage in his left eye, with right eye remaining normal. Vitrectomy with epiretinal membrane removal was performed. After operation his left visual acuity was recovered. Careful ophthalmologic examination is mandatory in patients with hemorrhagic moyamoya disease.

• Proceedings of the Korean Society of Plant Pathology Conference
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• 1997.06a
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• pp.5-21
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• 1997

Unique virus-like particles were associated with five eriophyid mite-borne plant diseases of unknown etiology; fig mosaic, redbud yellow ringspot, rose orsette, thistle mosaic, and high plains disease of corn and wheat. Quasi-spherical, double membrane-bound particles (DMPs), 120 - 200 nm in diameter, were observed in the cytoplasm of all cell types in symptomatic leaves of infected plants. No DMPs were observed in symptomless plants. The DMPs in symptomatic thistles were associated with two types of inclusions, electron-dense amorphous material and tubular aggregates. Similar amorphous inclusions were also found in corn and wheat with high plains disease, while tubular inclusions were observed in figs with mosaic symptoms. The particles and inclusions were similar in some aspects to immature particles associated with viroplasms of animal and insect poxviruses and also to the double-enveloped particles of tomato spotted wilt virus associated with viroplasms during early stages of infection, but were unique and unlike any known plant viruses. The DMPs and associated viroplasm-like inclusions in the high plains disease were specifically immunogold labeled in situ with the disease-specific antiserum. Thread-like structures, similar to tenuivirus particles, present in the partially purified virus preparations were also immunogold labeled with the antiserum. It is suggested that the thread-like structures are derived from the DMP. In many cells of symptomatic corn and wheat samples, DMPs occurred together with flexuous rod-shaped particles and cylindrical inclusions of wheat streak mosaic potyvirus (WSMV), suggesting that the disease is caused by a mixed infection of WSMV and the agent represented by the DMPs. Based on cytopathology, symptomatology and mite and/or graft-transmissibility, the five diseases described in this paper are potentially caused by virus(es) and the DMPs associated with these diseases may represent virus particles. If the DMPs are indeed viral in nature, they would comprise a new group of plant viruses.

• Korean Journal of Clinical Pharmacy
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• v.24 no.3
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• pp.199-205
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• 2014

Objectives: Current studies are debating on the association of vascular calcification and the benefit of treatment to lower serum phosphorus level in patients with chronic kidney disease. The aim of this study was to evaluate the association of mortality and risk of vascular calcification in patients with CKD who were taking phosphate binders. Methods: This study was conducted through retrospective medical chart review for 420 patients aged 18 years and older who were admitted for chronic kidney disease. Results: Vascular calcification was not statistically significantly associated with increased mortality in patients with CKD [16.7% vs. 19.2%; 95% CI; 0.388 to 1.818 (p=0.656)]. Intervention of calcium-based phosphate binders was not significantly associated with vascular calcification in patients with CKD [9.1% vs. 12.5%; 95% CI; 0.364 to 1.358 (p=0.292)]. Ca x P product ${\geq}55mg^2/dL^2$ was not significantly associated with increased 1 year mortality in patients with CKD [25.4% vs. 17.5%; 95% CI; 0.851 to 3.013 (p=0.142)]. Intervention of sevelamer was significantly associated with reduced 1 year mortality in patients with CKD than that of patients who did not take sevelamer [6.3% vs. 25.3%; 95% CI; 0.044 to 0.880 (p=0.020)]. Conclusion: There was not a statistically significant association between vascular calcification and phosphate binder's use. But phosphate binder use was significantly associated with decreased mortality in patients with CKD.

• Journal of The Korean Society of Integrative Medicine
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• v.6 no.1
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• pp.55-62
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• 2018

Purpose : Preeclampsia(PE) is a pregnancy-specific disease which is characterized by hypertension and proteinuria. This disease occurs in about 2-8 % of pregnancies in developing countries and remains among the major causes of maternal and neonatal mortality and morbidity throughout the world. Although the causes of PE are not fully understood, the infection has been considered as the main risk factor for this diseases. Periodontal disease may provide a chronic burden of endotoxin and inflammatory cytokines and the disease has been considered as risk factors of systemic illnesses including cardiovascular disease, atherosclerosis, and cerebrovascular ischemia. So, studies performed over the last 15 years have suggested that periodontal disease may be associated with adverse pregnancy outcomes such as PE. However, this association has not been found in all populations. The aim of this review article was to evaluate whether periodontal status and the presence of specific periodontal pathogens may influence the incidence of PE. Methods : Many research articles searched at the electronic databases(MEDLINE; 2000 to July 2017) including search term as periodontal disease and preeclampsia. Result : There were 10 case-control studies and 5 cohort studies meeting our inclusion criteria. The results showed that maternal periodontitis (adjusted odds ratio: 1.5 to 9.3) was associated with preeclampsia in 15 epidemiological studies. Conclusion : It is clear that maternal periodontitis is a risk factor associated with preeclampsia, emphasizing the importance of periodontal care in prenatal programs.

• Journal of East-West Nursing Research
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• v.27 no.2
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• pp.166-176
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• 2021

Purpose: This study was conducted to assess the effect of household types on the occurrence of chronic diseases depending on gender and to identify the factors associated with chronic disease occurrence in one-person households. Methods: Multivariate logistic regression analysis was conducted using the data of 15,949 adults with the age of 19 years or older from the sixth Korea National Health and Nutrition Examination Survey (2013~2015). Results: For male, the risk of chronic disease occurrence was higher in one-person households than in multi-person households, and the same held true after adjusting for the confounding factors. For female, no significant relationship was found between household types and chronic disease occurrence. Factors associated with chronic disease occurrence were age, employment state, marital state, smoking, perceived stress, and depression in male, and age, employment state, physical activity, and obesity in female. Conclusion: It is necessary to monitor the disparity in health depending on household types in male. Additionally, providing a gender specific chronic disease prevention and health enhancement program is required.

• Journal of Korean Biological Nursing Science
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• v.23 no.4
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• pp.308-317
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• 2021

Purpose: The purpose of this study was to elucidate the relationship between readiness to quit smoking and smoking cessation, and identify factors associated with smoking cessation in smokers with ischemic heart disease post-coronary angiography (CAG). Methods: This descriptive study was conducted between December 1, 2020 and May 14, 2021 at a P hospital, Busan. A total of 164 subjects completed the questionnaire including general characteristics, coronary artery disease characteristics, readiness to quit smoking, and smoking cession behavior during hospitalization and 4 weeks after discharge. Results: The success rate of smoking cessation after coronary angiography in patients with ischemic heart disease was 49.4% (n = 81). In addition, 48.2% of smokers (n = 83) attempted smoking cessation after CAG, while 39.8% showed changes in smoking behavior. The readiness to quit smoking was significantly associated with smoking cessation (OR= 2.23, p< .005). Conclusion: Readiness to quit smoking was identified as an important factor associated with smoking cessation in patients with cardiovascular disease in this study. In order to increase the smoking cessation rate, it is necessary to strengthen the readiness to quit smoking, followed by a tailored program for smoking cessation in patients with ischemic heart disease.

• Journal of Korean Biological Nursing Science
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• v.13 no.3
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• pp.262-268
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• 2011

Purpose: The purpose of this study was to identify the relationship between health behaviors and musculoskeletal disease in adults. Methods: The data of 7,421 adults applied in this study were collected from health behaviors (smoking, drinking, exercise, weight, sleeping, stress) and related with musculoskeletal disease form 2009 Korea National Health and Nutrition Examination Survey. Date were collected through self-report questionnaires from January to December, 2009. Data were analyzed using chi-square test, Multivariate logistic regression with SPSS/WIN 17.0. Results: The prevalence rate of musculoskeletal disease was 30.6%. In multivariate analyses, the sex, age, BMI, stress and education were statistically strongly associated with most of musculoskeletal disease among adults. Conclusion: The results of this study suggest that musculoskeletal disease prevention and nursing intervention programs should be necessarily established and continuously managed in order to treat with the musculoskeletal disease.

• Clinical and Experimental Pediatrics
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• v.57 no.6
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• pp.287-291
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• 2014

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with thyrotoxicosis. Recently, we encountered two adolescent Korean patients with Moyamoya disease associated with Graves' disease who presented with episodic right-sided hemiparesis and syncope. These two girls who had Graves' disease had no history of other diseases or head trauma. A thyroid function test revealed a euthyroid state and a high thyroid-stimulating hormone (TSH) receptor antibody titer at that time. The patients were diagnosed with Moyamoya disease based on brain magnetic resonance angiography and cerebral four-vessel angiography. The patients underwent cranial revascularization by encephalo-duroarterio-synangiosis as soon as a diagnosis was made, which resulted in successful symptom resolution. They fared well and had no additional neurological symptoms as of their last follow-up visits. Here, we report these two cases of confirmed Moyamoya disease complicated by Graves' disease with a review of the literature, and discuss the possible association between the two diseases. To our knowledge, this is the first report in South Korea on Moyamoya disease associated with Graves' disease in adolescents with a euthyroid.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.