• Title/Summary/Keyword: age

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A Case Report of Novel Mutation in GNPTAB in Two Siblings with Mucolipidosis Type III Alpha/beta (GNPTAB 유전자에서 새로운 돌연변이가 확인된 뮤코지방증 III형 남매)

  • Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.99-106
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    • 2018
  • Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

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A New Attempt to Establish the Extrinsic Aging Hair Model to Evaluate The Response to Aging in Physical Property (모발 노화에 따른 물성변화와 외인성 노화모델의 개발)

  • Song, Sang-Hun;Choi, Wonkyung;Park, Hyunsub;Lim, Byung Tack;Park, Kyoung Ran;Kim, Younghyun;Park, Sujin;Son, Seong Kil;Lee, Sang-Min;Kang, Nae-Gyu
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.45 no.2
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    • pp.185-198
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    • 2019
  • Human tissue undergoes aging by the oxidant damage via structural change and its physical properties. The skin aging process is well known and many evaluations have been conducted. However, studies on hair aging were relatively few and thus care for aging hair is difficult. This study aims to fabricate an aging hair and identify anti-aging effect with known ingredient in anti-aging. First of all, physical properties of aging hair of age 60s by physiologically intrinsic factors were compared to those of the hair made by various extrinsic factors such as several chemical reactions and iteration numbers of the treatments. The extrinsic aging hair of this study relates to the less amount of lipid and to the hair of perm treated once accordingly, wherein several physical properties, preferably comprise roughness and tensile strength, present a novel concept of the intrinsic aging hair. The penetration of peptide into the aging hair was leading the extrinsic hair towards more structurally directed a younger hair. In addition to the structural change, the penetration of the peptide enhanced texture and tensile strength of the aging hair. These patterns have been also found in addition of propolis. For the first time, these qualitative studies exhibit that indeed our extrinsic aging hair well describes the anti-aging efficacy as a receptor for a cross-linker and the ingredients of human hair.

Clinical Spectrum and Short-term Effects of Enzyme Replacement Therapy for Mucopolysaccharidosis Type II (제2형 뮤코다당증의 임상적 스펙트럼과 효소대치요법의 단기간 효과)

  • Cheon, Chong Kun;Hwu, Wuh-Liang
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.78-86
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    • 2018
  • Purpose: We aimed to delineate clinical spectrum and short-term effects after enzyme replacement therapy (ERT) for 5 mucopolysaccharidosis type II (MPS II). Methods: Five patients were diagnosed with MPS II by clinical findings, enzyme activity, and genetic testing. Idursulfase was administered by intravenous infusion at a dose of 0.5 mg/kg every week. Observational chart analysis of patients, who underwent systematic investigations more than 12 months after initiation of ERT was done retrospectively. Results: Three patients were classified as having the attenuated type, and 2 patients were classified as having the severe type. The median age at the diagnosis was 9.6 years (range 3.4-26 years). Four different mutations in 5 Korean patients (4 families) with MPS II were identified, among which two were novel mutations (1 small insertion mutation: p.Thr409Hisfs*22, and 1 missense mutation: p.Gly134Glu). Two severe type sibling patients with the same mutation had different clinical manifestation. Urinary glycosaminoglycan excretion decreased within the twelve months of ERT (P=0.043). Liver and spleen volumes showed reductions that were maintained in all patients (P=0.043 and P=0.043, respectively). Improvements were also noted in left ventricular mass index (P=0.042), shoulder flexion (P=0.043), shoulder abduction (P=0.039), knee flexion (P=0.043), elbow flexion (P=0.042), and respiratory distress index (P=0.041). Conclusion: This study demonstrates that Korean patients with MPS II are clinically heterogeneous and indicates that idursulfase is relatively effective in several clinical parameters including heart size and respiratory distress index without infusion-related reactions in patients with MPS II.

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Food purchase in e-commerce and its relation to food habit of adult women in Incheon and Gyeonggi (인천 및 경기지역 성인 여성의 전자상거래에서 식품 구매실태와 식습관과의 관련성)

  • Park, Yu-Jin;Kim, Mi-Hyun;Choi, Mi-Kyeong
    • Journal of Nutrition and Health
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    • v.52 no.3
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    • pp.310-322
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    • 2019
  • Purpose: This study examined the food purchases from e-commerce and its relation to eating behaviors or habits in adult women in Incheon and Gyeonggi. Methods: A total of 410 subjects participated in the questionnaire survey. Food purchases in e-commerce and food habits were compared according to age, marital status, and food purchase status in e-commerce of the subjects. Results: Approximately 88% of the subjects had experience of buying foods by e-commerce; more than 40% of the subjects spent less than 100,000 Won buying foods by e-commerce in the past 6 months. The major purchases were coffee and tea, instant food and frozen food, and water and beverages. The reasons for buying foods in e-commerce were cheaper price, convenience of delivery, and variety of food choices. The main factors considered for purchasing foods in e-commerce were price and quality followed by rapid and accurate delivery, and food label and information. Approximately 70% of the subjects were very satisfied or satisfied with their food purchase in e-commerce, and 96% answered that they were willing to buy food in e-commerce again. The perception on the advantages of food purchases in e-commerce was 3.6 points out of 5 and significantly lower in the over 50s and married group. The subjects with experience and high cost of food purchase in e-commerce showed significantly low scores of dietary behaviors and eating habits, which is undesirable. Conclusion: A high percentage of people purchased foods by e-commerce, and they showed undesirable eating habits, especially when the cost of purchasing foods by e-commerce is high. These results showed that purchasing foods in e-commerce may be related to consumers' food habits. Therefore, continuous attention and nutrition guidance for e-commerce consumers are needed.

A Study on the Effects of Career Interrupted Women' Personal Attitude and Subjective Norm on Entrepreneurial Intention: Focusing on Moderating Effects on the Entrepreneurial Supporting Policy (경력단절여성의 창업행위에 대한 태도와 주관적 규범이 창업의도에 미치는 영향)

  • Choi, Jinsook;Lee, Namhee;Hwang, Kumju
    • Asia-Pacific Journal of Business Venturing and Entrepreneurship
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    • v.14 no.4
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    • pp.113-132
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    • 2019
  • The degree of females' participation in corporate activity has been recently increased over the world and females' participation in economic activity may be new dynamic fuel for the Korean economy that falls into the vicious cycle of low growth. Start-up, therefore, has increasingly taken attention as an opportunity for females whose careers were interrupted to re-enter the labor market. The need for studies that examine factors influencing the decision of start-up is also increased along with the increase of the ratio of females' start-up. This study aims to verify effects of the women's characteristics(women discrimination, women's role conflict) and the human networks of females whose careers were interrupted, with the intention for entrepreneurial intention, which are mediated by personal attitudes and subjective norm suggested by Ajzen's Theory of Reasoned Action, based on an empirical research. The findings show that the human networks of females have an effect on attitudes toward start-up activity and subjective norm and the woman discrimination influence the personal attitudes. In contrast, the women's role conflict have no effect on both personal attitude toward start-up activity and subjective norm. This can be supposed as an outcome resulted from the subjects' low level of conflict caused by their sex roles, on their age distribution. The relation between subjective norm and entrepreneurial Intention seemed to be moderated by their perceived strong entrepreneurial supporting policy. Their attitudes toward start-up activity were found to have a mediating effect on the relation between the women discrimination, human networks and entrepreneurial Intention, while the subjective norm only mediated the relation between human networks and entrepreneurial Intention. Based on such results, this study attempts to suggest theoretical suggestions and the direction of various entrepreneurial supporting policy for the increase and the growth of start-up of females whose careers were interrupted, in Korea.

Relationship between health behaviors and high level of low density lipoprotein-cholesterol applying cardiovascular risk factors among Korean adults: based on the sixth Korea National Health and Nutrition Examination Survey (KNHANES VI), 2013 ~ 2015 (성인의 심혈관계 위험인자를 적용한 고저밀도지단백-콜레스테롤혈증과 건강행태의 관련성 연구 : 국민건강영양조사 제6기 (2013 ~ 2015) 자료 이용)

  • Cha, Bo-Kyoung
    • Journal of Nutrition and Health
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    • v.51 no.6
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    • pp.556-566
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    • 2018
  • Purpose: This study was designed to determine the relationship between health behaviors and high levels of low-density lipoprotein-cholesterol (LDL-cholesterol) according to cardiovascular risk factors among Korean adults. Methods: This cross-sectional study was based on the sixth Korea national health and nutrition examination survey (KNHANES VI). Participants were 13,841 adults aged 19 years and older. Cardiovascular risk factors were stroke, myocardial infarction or angina, diabetes mellitus, smoking, hypertension, aging, high density lipoprotein-cholesterol (HDL-cholesterol) under 40 mg/dL and HDL-cholesterol over 60 mg/dL. Cardiovascular risk groups were classified as very high risk (stroke, myocardial infarction or angina), high risk (diabetes mellitus), moderate risk (over 2 risk factors), and low risk (below 1 risk factor). The prevalence of high LDL-cholesterol was calculated using the LDL-cholesterol target level according to cardiovascular risk group. Results: The prevalence of high LDL-cholesterol was 25.5% in males and 21.7% in females. Complex sample cross tabulation demonstrated that the high LDL-cholesterol and normal groups differed significantly according to age, education, body mass index, percentage of energy from carbohydrate, fat, saturated fat and n-6 in males and females. These two groups were also significantly different according to smoking in males and the percentage of energy from n-3 in females. Complex sample multiple logistic regression analysis adjusted for multiple confounding factors demonstrated that the probability of high LDL-cholesterol was significantly associated with current smoking (OR: 1.66, 95% CI: 1.40-1.99), obesity (OR: 1.95, 95% CI: 1.64-2.31) in males, and current smoking (OR: 1.73, 95% CI: 1.19-2.52), obesity (OR: 1.63, 95% CI: 1.39-1.90), percentage of energy from n-3 (quartile 1 vs. quartile 2; OR: 0.77, 95% CI: 0.62-0.96; quartile 1 vs. quartile 3; OR: 0.73, 95% CI: 0.56-0.94; quartile 1 vs. quartile 4: OR: 0.67, 95% CI: 0.51-0.87) in females. Conclusion: This study reveals the impact of smoking, obesity, energy percentage of nutrient intake on LDL-cholesterol.

The Characteristics and Types of Psychiatric Consultation for Insomnia Symptom in Hospitalized Patients (불면증으로 의뢰된 입원환자의 임상적 특징 및 협진 유형 분석)

  • Jeon, Hansol;Ryu, Seung-Ho;Ha, Jee Hyun;Jeon, Hong Jun;Park, Doo-Heum
    • Sleep Medicine and Psychophysiology
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    • v.25 no.2
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    • pp.68-73
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    • 2018
  • Objectives: The purpose of this study was to explore insomniac demographic characteristics and the type of consultation provided to hospitalized patients asked to the Department of Psychiatry for insomnia and to compare patient insomnia characteristics by consultation type. Methods: We performed a retrospective chart review of 4,966 patients who were hospitalized from August 1, 2005 to December 31, 2011 that received consultation in the Department of Psychiatry. Among them, 236 patients were referred for insomnia. We compared the differences in demographic characteristics and types of consultation between the insomnia patient group and other patient group. We also compared the difference between demographic characteristics and type of consultation by dividing total subjects into 'with reconsultation' and 'without reconsultation' groups. Results: Our results came from the analysis of 9,689 consecutive consultation requests. There were 4,966 patients that participated in the study over 6 years and 6 months. The overall consultation rate was 3.3% of all admissions and insomnia patients comprised 4.8% of those. The ratio of re-consultation for insomnia was 27.5%. There was no significant difference in mean age between the insomnia 'with reconsultation group' and the insomnia 'without reconsultation group', but the 'with reconsultation' group had significantly more male patients and medical patients than the 'without re-consultation' group. For insomnia patients, consultation types were in the order of Mending request (51.3%), Paralle request (36.6%), Complementary request (9.0%) and this composition differed from that of total admission patients. Conclusion: Hospitalized patients referred for insomnia showed a higher proportion of male patients, lower rates of re-consultation compared with other patients, and most of these were for secondary insomnia. Each doctor should be aware of the possibility of inpatient insomnia, conduct positive assessments and referrals as necessary, and psychiatrists who might be asked for consultation need to prepare an active intervention with initial diagnosis and treatment, as well as recommendations for the timing of reconsultation.

Clozapine Administration Potentiate Platelet Activation in Patients with Schizophrenia : Retrospective Study (클로자핀을 투여한 조현병 환자에서 혈소판 활성 증가에 관한 후향적 연구)

  • Kim, Hyun-Ah;Lee, Jong Wook;Kim, Seung-Jun;Oh, Hong-Seok;Im, Woo Young;Kim, Ji-Woong
    • Korean Journal of Psychosomatic Medicine
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    • v.26 no.2
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    • pp.188-193
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    • 2018
  • Objectives : Clozapine is a widely prescribed antipsychotic drug for schizophrenia and is known to increase the risk of cardiovascular disease due to its metabolic side effects. However, little is known about the effect of clozapine on the platelet activation, another important factor in the development of cardiovascular disease. In this study, we tried to investigate the effect of clozapine on platelet activity in patients with schizophrenia by comparing the mean platelet component (MPC) values before and after the clozapine administration. Methods : A retrospective review of medical records of patients with schizophrenia, who newly started clozapine treatment from September 1st, 2003 to April 30th, 2007 at the Department of Psychiatry, Konyang University Hospital in Republic of Korea was performed. The final statistical analysis included 14 participants. Bayer ADVIA $120^{(R)}$ system was used to measure MPC. Results : Among the 14 participants, five subjects were males (28.60%), and ten subjects were females (71.40%). The mean age of participants was $37.50{\pm}11.64years$. Average of duration of illness was $91.00{\pm}93.96months$, with the mean dosage of clozapine taken by participants at the time of the last blood test was $337.50{\pm}109.52mg$. The mean MPC measurement before and after receiving clozapine was $26.12{\pm}2.22g/dL$ and $25.14{\pm}2.08g/dL$ respectively. Wilcoxon signed rank test showed that there was a statistically significant decrease in MPC levels after clozapine administration (V=16, p=0.024). Conclusions : Decreased MPC levels after clozapine administration implies that clozapine may increase platelet activation which could have an adverse effect on the occurrence of thromboembolic disease. Our findings also suggest that careful monitoring of the risk factors of cardiovascular diseases, such as platelets activity, is necessary when administering clozapine.

A Study on The Iron Monument in The era of Joseon Dynasty (조선시대(朝鮮時代) 철비(鐵碑)의 조영(造營) 연구(硏究))

  • Hong, Dai Han
    • The Korean Journal of Archival Studies
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    • no.24
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    • pp.215-274
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    • 2010
  • Iron-making industries of the country, regardless of age has been the focus. This makes the iron production technology and production techniques that result in increased economic activity and because of the central charge. Therefore, the social development of ancient iron-making technology is based on phase-sensitive. Modern steel making up the monopoly of the country's target under the strict control of production, distribution was. It is essential to produce iron weapons was a threat is because you can keep the throne in the hands of the forces that can cause side effects when I went was to block. This study created a rail Cholbi(iron monument) and the regional distribution pattern of the production, construction background, looked on. Cholbi(iron monument) for the production and recording "the Annals of the Joseon Dynasty" often appear in history books and many academic interests, but was off target. Compared to a stone monument that was not generally as well as the Japanese colonial period and over the course of modernization destroyed, damaged a lot of cases the cause may be found in front. Cholbi(iron monument), except for the gravestones of the Joseon Dynasty monument erected in honor of virtue, as an example of content that dominated a packman business, founding of the school and confirmed that a few were built as a special purpose. Cholbi(iron monument) compared to the production technology or the cost of the monument's difficulty in financing follows. Therefore Cholbi(iron monument) the establishment of the Joseon Dynasty through the background of the economic situation and the local government can look. And iron technology began complaining about the object of history, economic conditions, with the change of season has been a change in people's consciousness tells you. Important data of ancient history as an epigraph that has been as important, the Middle Ages to modern times ranging from newly born to the time Cholbi(iron monument) in the development of the country's documentary subject to change should have been brought. Based on these discussions changes the identity of the hero monument and production inspector, review of production through the Joseon Dynasty period Cholbi (iron monument) contemplated the significance is reflected in production.

A Systematic Review of Community Elder Abuse Studies in South Korea (한국 지역사회 거주 노인학대 연구의 체계적 고찰)

  • Kim, Dong Ha;Kang, Serin;Lee, Yoon Kyoung;Cha, Ye Won;Yoo, Seunghyun;Kim, Hongsoo
    • 한국노년학
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    • v.36 no.4
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    • pp.1003-1024
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    • 2016
  • The human rights of older people have gotten more attention recently in South Korea, a country that is in transition to a super-aged society. This study aimed to systematically review studies on elder abuse and related factors among community-dwelling older adults in South Korea over twenty years (1994-2016). We searched major databases (Riss, DBpia, KISS, KMbase, and PubMed) and identified published studies relevant to the topic. Based on inclusion and exclusion criteria related to study quality, a total of 31 studies were selected for this review. We examined types, measurements, and risk factors of elder abuse as well as study designs in the selected studies, guided by Johannesen's theoretical framework on elder abuse. All of the reviewed studies on elder abuse in Korea were cross-sectional studies, most of which focused on older people living in urban areas, using a non-random sampling method. All of the studies focused on certain types of elder abuse only. Some adopted elder-abuse instruments that were not validated, and others used self-developed instruments without psychometric tests. As for the risk factors of elder abuse in South Korea, the physical and mental health of the victims and aggressors impacted the risk of elder abuse, but general sociodemographic factors such as age, sex, and education were less likely to be related to the risk. In addition, decreasing caregiver burden and building elder-friendly communities are important for the prevention of elder abuse. Needed are further empirical studies on elder abuse with a theoretical framework that gives consideration to the unique sociocultural contexts of Korea. It is also recommended to develop instruments to measure elder abuse reflecting the sociocultural contexts of Korea, and to examine the multi-dimensional risk factors of elder abuse.