• Title/Summary/Keyword: Past disease

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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases

  • Goh, Gerald;Choi, Murim
    • Genomics & Informatics
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    • v.10 no.4
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    • pp.214-219
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    • 2012
  • The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.

Alzheimer Disease Diagnosis using Magnetic Bead (자기 비드를 이용한 알츠하이머병 조기 진단 방법에 대한 연구)

  • Chae, Cheol-Joo;Cho, Jung-Min;Kang, Jae-Min;Kim, Kwan-Su;Song, Ki-Bong
    • Proceedings of the Korean Institute of Electrical and Electronic Material Engineers Conference
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    • 2010.06a
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    • pp.219-219
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    • 2010
  • In a past, the method in which it used the fluorescent material or it analyzes a gene was used in order to detect the Alzheimer's disease. However, in this paper, the magnetic bead is used in order to detect the Alzheimer's disease. The 'magnetic bead used in this paper is able to make the amyloid-beta and the selective binding known as cause of the Alzheimer's disease.

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Patient-specific pluripotent stem cell-based Parkinson's disease models showing endogenous alpha-synuclein aggregation

  • Oh, Yohan
    • BMB Reports
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    • v.52 no.6
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    • pp.349-359
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    • 2019
  • After the first research declaring the generation of human induced pluripotent stem cells (hiPSCs) in 2007, several attempts have been made to model neurodegenerative disease in vitro during the past decade. Parkinson's disease (PD) is the second most common neurodegenerative disorder, which is mainly characterized by motor dysfunction. The formation of unique and filamentous inclusion bodies called Lewy bodies (LBs) is the hallmark of both PD and dementia with LBs. The key pathology in PD is generally considered to be the alpha-synuclein (${\alpha}$-syn) accumulation, although it is still controversial whether this protein aggregation is a cause or consequence of neurodegeneration. In the present work, the recently published researches which recapitulated the ${\alpha}$-syn aggregation phenomena in sporadic and familial PD hiPSC models were reviewed. Furthermore, the advantages and potentials of using patient-derived PD hiPSC with focus on ${\alpha}$-syn aggregation have been discussed.

Study on the pathogeniety of aspergilli to silkworm, Bombyx mori L. in Korea (한국산 Aspergilli의 누에에 대한 병원성에 관한 연구)

  • 한계영
    • Korean Journal of Microbiology
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    • v.7 no.2
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    • pp.63-85
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    • 1969
  • This study was carried out in order to obtain clear knowledge about the effects of Aspsulphueus which is parasitic on the bean paste ball, meju, made to brew soy sauce and bean paste for domestic uses in the general silkworm rearing farmhouseholds in Korea. The major research carried by the author during the past five years (1965-58) includes, 1) the cause of disease, 2) symptoms, 3) morphological and chemical changes of the larval body tissues and 4) methods to prevent the contagion of the disease.

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Disease-related Knowledge, Stress, and Quality of Life in Patients with Varicose Veins (하지정맥류 환자의 질병관련 지식과 스트레스 및 삶의 질)

  • Lee, Seul Hee;Yoo, Yang Sook
    • Journal of Korean Biological Nursing Science
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    • v.18 no.1
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    • pp.60-67
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    • 2016
  • Purpose: The purpose of this study was to investigate the disease-related knowledge, stress and quality of life for the patients with varicose veins. Methods: Data were collected via questionnaire from 138 patients with varicose veins in C University Hospital in Korea from November in Korea 2012 to August 2013. Results: Knowledge of the symptoms and diagnosis was the lowest. The scores from patients with disease-related knowledge tended to be low for both subjects over the age of 60 and subjects with low education (less than high school). The score for stress over complications was the highest. The level of stress is higher for women, subjects without spouses, subjects with higher severity of disease and patients who had been taking hormones in the past or are still taking hormones. The disease-related quality of life tended to be lower for women and subjects without spouses. 21% of the variance in quality of life was explained by the level of disease-related stress, disease severity and knowledge. Conclusion: Education and the management of nurses to improve disease-related knowledge for patients with varicose veins is highly recommended. Intervention, by reducing stress, is necessary to improve the quality of life for women, subjects without spouses, and subjects with higher severity of the disease.

Growth Hormone Treatment in Children with Chronic Kidney Disease (만성 소아 신질환 환자에서의 성장호르몬 치료 인제의대 부산백병원 소아청소년과)

  • Chung, Woo-Yeong
    • Childhood Kidney Diseases
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    • v.13 no.1
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    • pp.14-20
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    • 2009
  • Growth retardation is a common consequenc of chronic kidney disease (CKD) in childhood. Many recent clinical and experimental data indicate that growth failure in CKD is mainly due to a relative GH insensitivity and functional IGF-I deficiency. Glucocorticoids also glucocorticoids interfere with the integrity of the somatotropic hormone axis at various levels. Over the past 10 years, recombinant growth hormone (rhGH) has been used to help short children with chronic kidney disease. A GH dosage of 0.35 mg/kg/week (28 IU/$m^2$/week) appears efficient and safe. Some clinical trial data show that final height will be within the normal target height range when GH treatment is continued for many years without remarkable adverse events.

Reoperation after Open Heart Surgery -Clinical analysis of 27 cases- (개심술후 재수술에 대한 임상적 고찰)

  • 서의수
    • Journal of Chest Surgery
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    • v.22 no.1
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    • pp.50-58
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    • 1989
  • The emergence and expansion of cardiac surgery over the past decade has resulted in an increasing number of patients undergoing cardiac operations but many kinds of heart surgery was realized only palliative, resulting in increasing numbers of secondary cardiac procedures. From 1978 to 1988, 10 cases of various congenital heart diseases and 17 cases of acquired heart diseases were reoperated at Hanyang University Hospital. The leading indication of second operation was residual shunt or valvular malfunction due to technical failure in congenital heart disease and primary valve failure, endocarditis, paravalvular leakage were for acquired heart disease. The mortality of reoperation was 0% for congenital heart disease and 11.7%[2 death among the 17 patients] for acquired heart disease. The leading causes of death were myocardial failure, sepsis with endocarditis, acute renal failure and congestive heart failure.

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Understanding of systemic disease in dental clinic (임상가를 위한 특집 1 - 임상에서 흔히 만날 수 있는 전신 질환에 대한 이해)

  • Shin, Jae-Myung
    • The Journal of the Korean dental association
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    • v.48 no.1
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    • pp.20-26
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    • 2010
  • The fundamental goal of dental treatment is rehabilitation of oral health thus various dental treatment are done. Most of the dental procedures are not life threatening but patients who are medically compromised are exceptional. Fortunately systemic disease can be easily diagnosed by medical insurance(medicare) or annual medical check examination in Korea. Diseases which were fatal at the past are successfully treated nowadays and consequently the population of the elder increases. As the population of elder increases, patients who need medical care as well as dental patient with compromised medical condition increases. It is essential to find out if the patient has any systemic disease. Consultant to the appropriated physician of medically compromised patients? is demanded and also for a successful dental treatment, deep knowledge of the systemic disease is necessary.

Relationship between smoking history and periodontal disease among the elderly in Korea

  • Kim, So-Yeong
    • Journal of Korean society of Dental Hygiene
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    • v.21 no.3
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    • pp.227-234
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    • 2021
  • Objectives: The objective of this study was to investigate the relationship between smoking history and periodontal disease among the elderly in South Korea. Methods: The study subjects comprised 2,703 elderly people who underwent oral health examination as part of the 7th South Korea National Health and Nutrition Examination Survey (KNHANES; 2016-2018). Data were analyzed using frequency analysis, Rao-Scott chi-square test, t-test, and binary logistic regression analysis. Results: A complex sample logistic regression analysis showed that the odds for periodontal disease development were higher in past smokers (odds ratio [OR]=1.461; 95% CI=1.070-1.994) and current smokers (OR=1.601; 95% CI=1.011-2.536) than in lifetime non-smokers. Conclusions: Smokers must actively participate in smoking cessation programs and interventions starting from middle age.

A Study on Changes in Trends of Disease of Residents Who Received Treatment at Nam Jeju County Primary Health Care Post(1997~2003) (남제주군 보건진료소 이용 주민의 상병양상변화 고찰(1997년~2003년))

  • Kang, Na-Yon
    • Journal of Korean Academy of Rural Health Nursing
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    • v.2 no.2
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    • pp.133-144
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    • 2007
  • Purpose: The purpose of this study was to examine the trends of disease of residents who had treatment in primary health care posts in N-county over the past seven years (1997-2003). The data will assist in planning responses to changes in the health care environment and in planning health promotion programs. Method: A retrospective descriptive survey was conducted of the computerized records of primary health care done by community health practitioners over the last seven years. Cross analysis was conducted among the data using SAS, and the results were displayed in frequencies and percentages. The data were collected from May to September 2004. Results: The results of the study are as follows: 1. The six most frequent diseases were ranked as follows: diseases of the 1) respiratory system, 2) musculoskeletal system and connective tissue, 3) digestive system, 4) skin and subcutaneous tissue, 5) circulatory system, and 6) symptoms, signs and abnormal clinical and laboratory findings. Especially in 2002, circulatory system related disease rose two steps in the ranking and digestive system related disease went a step down. 2. The patients' use of primary health care posts over the past seven years continued to increase on the whole. Conclusions: According to these results, each primary health care post should carry out special health promotion programs that fit the local society of N- county and are in accordance with changes in health care needs.