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AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

  • Ko, Jung-Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.72-79
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    • 2007
  • Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

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The Association between Periodontal Disease and Renal Disease Occurrence : A Retrospective Cohort Study (치주질환과 신장질환 발생과의 연관성: 후향적 코호트 연구)

  • Seon-Ju Sim;MinHee Hong;Ja-Young Moon;Hye-Sun Shin
    • Journal of Korean Dental Hygiene Science
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    • v.7 no.1
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    • pp.53-68
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    • 2024
  • Background: Research on the association between renal disease and periodontal conditions has yet to yield definitive results. In this study, we analyzed whether periodontal disease increases the risk of developing renal disease using Korean national cohort data over a period of 11 years. Methods: From 2002 to 2015, a retrospective follow-up investigation was conducted on the 203,538 Korean population using the National Health Insurance Service-National Sample Cohort. Periodontal disease and renal disease were identified through diagnoses using the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10) codes. The assessment of periodontal status involved considering the number of dental visits related to periodontal disease during the baseline 3-year period. Results: During the 11-year follow-up period, renal disease occurred in 19,868 out of the total 203,538 individuals. After adjusting for age, gender, income, smoking, drinking, physical activity, diabetes, hypertension, obesity, hypercholesterolemia, ischemic heart disease, and advanced periodontal treatment, periodontal disease increased the risk of renal disease occurrence by 1.04 times (adjusted hazard ratio [aHR] = 1.04, 95% CI = 1.01 to 1.08). Additionally, a higher frequency of dental visits attributed to periodontal disease was associated with an increased risk of renal disease,exhibiting a dose-response trend (aHR = 1.02, 95% CI = 1.00 to 1.06 for once; aHR = 1.08, 95% CI = 1.04 to 1.13 for two times; aHR = 1.11, 95% CI = 1.03 to 1.21 for three times). Conclusions: Our data confirmed that periodontal disease is associated witha higher incidence of renal disease.

Prehospital Status of the Patients with Ischemic Chest Pain before Admitting in the Emergency Department (허혈성 흉통 환자의 응급의료센터 방문 전 상황)

  • Jin, Hye-Hwa;Lee, Sam-Beom;Do, Byung-Soo;Chun, Byung-Yeol
    • Journal of Yeungnam Medical Science
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    • v.24 no.1
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    • pp.41-54
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    • 2007
  • Background : The causes of chest pain vary but the leading cause of chest pain is ischemic heart disease. Mortality from ischemic chest pain has increased more than two fold over the last ten years. The purpose of this study was to determine the data necessary for rapid treatment of patients with signs and symptoms of ischemic chest pain in the emergency department (ED). Materials and Methods : We interviewed 170 patients who had ischemic chest pain in the emergency department of Yeungnam University Hospital over 6 months with a protocol developed for the evaluation. The protocol used included gender, age, arriving time, prior hospital visits, methods of transportation to the hospital, past medical history, final diagnosis, and outcome information from follow up. Results : Among 170 patients, there were 118 men (69.4%) and the mean age was 63 years. The patients diagnosed with acute myocardial infarction (AMI) were 106 (62.4%) and with angina pectoris (AP) were 64 (37.6%). The patients who had visited another hospital were 68.8%, twice the number that came directly to this hospital (p<0.05). The ratio of patients who visited another hospital were higher for the AMI (75.5%) than the AP (59.4%) patients (p<0.05). The median time spent deciding whether to go to hospital was 521 minutes and for transportation was 40 minutes. With regard to patients that visited another hospital first, the median time spent at the other hospital was 40 minutes. The total median time spent before arriving at our hospital was 600 minutes (p>0.05). The patients who had a total time delay of over 6 hours was similar 54.8% in the AMI group and 57.9% in the AP group (p>0.05). As a result, only 12.2% of the patients with an AMI received thrombolytics, and 48.8% of them had a simultaneous percutaneous coronary intervention (PCI). In the emergency department 8.5% of the patients with an AMI died. Conclusion : Timing is an extremely important factor for the treatment of ischemic heart disease. Most patients arrive at the hospital after a long time lapse from the onset of chest pain. In addition, most patients present to a different hospital before they arrive at the final hospital for treatment. Therefore, important time is lost and opportunities for treatment with thrombolytics and/or PCI are diminished leading to poor outcomes for many patients in the ED. The emergency room treatment must improve for the identification and treatment of ischemic heart disease so that patients can present earlier and treatment can be started as soon as they present to an emergency room.

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A Study on The Kinds and Characteristics of Fast Foods - By Highschool Students in Daejeon - (패스트푸드의 종류 및 특징에 대한 연구 - 대전지역 고등학생을 대상으로 -)

  • Bae, Young-kung;Kim, Youngnam
    • Journal of Korean Home Economics Education Association
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    • v.28 no.3
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    • pp.79-88
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    • 2016
  • The purpose of this study was to distinguish which food is fast foods and to define the characteristics of fast foods. The 14 kind of foods(hamburger, pizza, fried chicken, raymyeon, hotdog, doughnut, fried fish cake, jajangmyeon udong, ice cream, dukbokki, spaghetti, sandwich, gimbab, and salad) and 5 characteristics of fast foods(takeout, franchise, fast serving, unhealthy, and cheap price foods) were selected based on the dictionary and previous research papers about fast foods for this study. A total of 306 male and female high school student in Daejeon area were participated. The data were gathered by questionnaire and analyzed by SPSS/WIN 18.0 program. The participants evaluated the fast foods as delicious and convenient foods but non-nutritious, i.e. high fat but vitamin deficient foods. Among the 14 foods examined, hamburger, pizza, and fried chicken were the foods which more than 90% of the participants acknowledged to fast foods. Dukbokki, spaghetti, sandwich, gimbab, and salad were the foods which less than 50% of the participant acknowledged to fast foods. Among the 5 characteristics of fast food examined, unhealthy foods showed the highest sensitivity, specificity, predictive value, and odds ratio(0.803, 0.712, 0.597, and 2.79, respectively), and cheap price showed the lowest values of those(0.565, 0.335, 0.242, and 0.85, respectively) for acknowledging foods to fast foods. As conclusion, hamburger, pizza, and fried chicken were the representative foods of fast foods. Fast foods are generally considered as fast served cheap price foods, but the participants did not think the fast foods as fast and cheap foods. The most distinguished characteristics of fast foods in the students' minds was unhealthy foods.

Evaluation of the Bioequivalence of Simvastatin 20mg Tablets in Healthy Volunteers (조코 정에 대한 엘바스타 정의 생물학적 동등성 평가)

  • Yun, Hwi-yeol;Kang, Wonku;Kwon, Kwang-il
    • Korean Journal of Clinical Pharmacy
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    • v.15 no.1
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    • pp.41-45
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    • 2005
  • 심바스타틴은 cholesterol 생합성 과정에서 속도 조절 효소인 HMG-CoA reductase의 강력한 상경적 길항약으로서 고지혈증 치료에 널리 쓰이는 약물이다. 심바스타틴 제제인 MSD 사의 조코 20 mg정을 대조약으로 하여 시험약인 유영 제약의 엘바스타 20mg정의 생물학적 동등성 평가를 하기 위해 22명의 건강한 지원자를 모집하였다. 지원자를 두 군으로 나누어 2정씩 투여하였고 $2{\times}2$ 교차시험을 실시하였다. 심바스타틴의 혈장 중의 농도를 정량하기 위하여 발리데이션된 LC/MS/MS를 사용하였다. 채혈 시간은 투약 전 및 투약 후 0.5, 1, 1.5, 2, 2.5, 3, 4, 6, 8, 10, 12 시간에 걸쳐 총 12시점에 걸쳐 시행하였다. 생물학적 동등성을 판정하기 위한 파라미터로 12시간까지의 혈장 중 농도곡선 하 면적 ($AUC_{12hr}$)과 최고 혈중 농도($C_{max}$)를 사용하였다. 12시간 까지의 혈중 농도 곡선 하 면적의 기하 평균은 $17.30ng{\cdot}ml/hr$(시험약)과 $17.35ng{\cdot}ml/hr$(대조약)으로 나타났다. 최고 혈중 농도의 경우 각 각 5.08 ng/ml(시험약)과 5.20 ng/ml(대조약)으로 관찰 되었다. $AUC_{12hr}$의 경우 로그변환한 평균치 차의 $90{\%}$ 신뢰구간이 log0.8510 - log1.1694이었고, $C_{max}$의 경우 log0.8176 - log1.1649로 계산되어 두 항목 모두 log0.8-log1.25이어야 한다는 식품의약품 안전청과 FDA의 기준을 모두 만족시켰다. 이상의 결과를 종합하면 시험약 엘바스타 정 20mg은 대조약 조코정 20 mg에 대하여 생물학적 동등한 것으로 판정되었다.트리머 전기비저항 탐사를 수행하였다. 이를 통해 하저에 케이블을 설치하는 방식에 비해 매우 신속하고 경제적으로 하저에 분포하는 이상대의 분포범위와 발달방향을 규명할 수 있었다.대에 대해 가장 효과적이다. 모델과 현장 적용 결과들을 통해 GRM SSM 방법을 이용하여 불규칙한 굴절면을 가진 지층들에 대해 좀 더 신뢰할 수 있는 정밀한 탄성파 속도를 산출할 수 있음을 보여주고 있다.별한 주의를 기울여야 한다.EX>$\alpha/\beta$=10인 경우 $62.0\~121.9\;Gy_{10}$ (중앙값: $93.0\;Gy_{10}$)의 분포를, ${\alpha/\beta}=3$인 경우 $93.6\~187.3\;Gy_3$ (중앙값=$137.6\;Gy_3$ )의 분포를 보였다. MD-BED $Gy_3$는 직장합병증 발생과의 관계는 통계적으로 유의하였고, 방광합병증과는 유의하지 않았다. 직장합병증과의 연관성은 MD-BED $Gy_3$보다 개별 환자의 직장전벽 총 선량 BED값인 R-BED $Gy_3$가 훨씬 더 높았다. 요도카테터 풍선의 후방지점이 대변하는 방광의 총 선량 BED값인 V-BED $Gy_3$도 방광합병증과 경향성 테스트에서 통계적 유의성을 보였다. 하지만, 어떠한 방사선선량도 골반제어율과 의미 있는 상관관계를 보이지 않았다. 본 기관에서 주치의의 선호도에 따라 강내근접치료가 외부방사선치료의 중간에 시행되는 형태인 샌드위치기법과 외부방사선치료 후반부에 시행되는 순차적 기법으로 구분하였을 때, 두 방식간 치료성적 및 합병증의 차이는 없었다. 총 치료기간에 대한 분석에서는 치료기간이 길어질수록 재발 위험이 커지는 경향을 보였으나, 나이 및 병기, 종양의 크기, MD-BED $Gy_{10}$

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Relationships Between Dietary Behavior and Serum Lipids of Health Examinees at General Hospitals in Busan (부산지역 건강검진 수검자의 식행태와 혈청 지질과의 관계)

  • Son, Eun-Joo;Lyu, Eun-Soon
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.42 no.1
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    • pp.46-52
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    • 2013
  • The purpose of this study was to measure the serum lipid concentrations by gender and age, and to investigate the relationship between dietary behavior and serum lipid levels in Korean adults. The subjects consisted of 209 volunteers (121 men and 88 women) who visited a health promotion center. Their anthropometric and biochemical blood indices were measured, and data on lifestyles were obtained using structured questionnaires. The blood total cholesterol, LDL-cholesterol, and triglyceride concentrations increased significantly with age in women (p<0.01). The food habit score of men and women increased with age, and total food habit score was negatively correlated with BMI (p<0.05). The rate of skipping meals (p<0.001), overeating (p<0.05), eating instant food (p<0.001), and eating out (p<0.05) decreased significantly with age, and the intake rate of vegetables (p<0.001) and carbohydrates (p<0.05) significantly increased with it. The food intake frequency of 21 food items was also measured, and snacks (p<0.05), high fat foods (p<0.01) meats (p<0.05), and instant foods (p<0.01) were negatively correlated with HDL-cholesterol. Snacks (p<0.05) and high fat foods (p<0.01) were positively correlated with LDL-cholesterol. Snacks (p<0.05) and fats/oils (p<0.01) were positively correlated with triglycerides. These results suggest that the food habits and food intake frequency may be one of the important factors affecting serum lipid concentrations in Korean adults.

Effects of Hamburger Patties Added Sea Tangle (Laminaria japonica) Powder and/or Cooked Rice on Postprandial Blood Glucose and Lipid Levels (다시마 분말과 밥을 이용한 햄버거 패티가 식후 혈당과 혈중 지질 농도에 미치는 영향)

  • Oh, Hyun-Kyung;Lim, Hyeon-Sook
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.40 no.6
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    • pp.809-817
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    • 2011
  • This study was performed to determine the effects of hamburger patties added sea tangle powder and/or cooked rice on postprandial plasma glucose and lipid levels. Four patties were prepared; one control patty (C) and three experimental patties (L, LI, and LII). L was the patty with sea tangle powder substituted for 2.5% of meat while LI and LII were the patties with cooked rice containing sea tangle powder substituted for 25% and 50% of meat, respectively. Ten healthy women voluntarily participated in the clinical test. Plasma glucose and lipid levels were measured at 0, 30, 60, 90, 120, 180, and 240 minutes after consuming each of the four patties. After consuming L, LI, or LII, changes in area under curve (${\Delta}$-AUCs) of plasma glucose, triglyceride, total cholesterol, and LDL-cholesterol were significantly lower than that after consuming C. However, ${\Delta}$-AUCs of plasma HDL-cholesterol after consuming L, LI, or LII were significantly higher than that after consuming C. These results indicate that the patty substituted with 2.5% sea tangle powder for meat might improve blood glucose concentration, whereas patties substituted with cooked rice containing 25% or 50% sea tangle powder might ameliorate plasma lipid profiles.

The Physical and Mental Symptoms of Normal Subjects with Mild Life Stress (생활 스트레스가 경미한 일반 성인에서의 신체적 및 정신적 증상 - 종합병원 건강증진센터 내원자들을 대상으로 -)

  • Chu, Sang-Hee;Ha, Eun-Hye;Lee, Byung-Ook;Jon, Duk-In;Kim, Young-Hyun;Song, Dong-Ho
    • Korean Journal of Psychosomatic Medicine
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    • v.10 no.1
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    • pp.48-54
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    • 2002
  • Objectives : Aims of the study were to investigate the physical and mental symptom profiles related with perceived life stress in normal populations. Methods: The study subjects were 186 subjects who visited the Health Promotion Center at National Health Insurance Corporation Ilsan Hospital between July and December, 2000. We measured Life Stress Assessment Scale (LSAS), SCL-90-R (Symptom Check List-90 Revised), and Physical Health Check Questionnaires to evaluate perceived life stress for one year, and physical and mental symptoms. The physical markers related with stress were also measured. According to LSAS scores, we selected two groups from all subjects : Group I (LSAS score with lower 25 percentile) and Group II (LSAS score with higher 75 percentile). Each number of subjects was 46 in Group I and 47 in Group II. We analyzed stasistical significances of study variables between Group I and II. Results : Group II subjects showed higher scores in all subscales of SCL-90-R compared to Group I subjects. Comparing to Group I, Group II subjects complained more physiological symptoms related with anxiety and depression. But there were no statistical differences in the physical markers related stress between two groups. Conclusion: We found that past year-life stress caused various mental and physical symptoms, which didn't develop any physical illness related life stress in normal populations yet.

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The Value of Calcium-scoring CT for Ischemic Cardiovascular Disease Screening (허혈성 심혈관 질환 선별을 위한 Calcium-scoring CT의 유용성)

  • Oh, Jung-Hoan;An, Sung-Min
    • Journal of radiological science and technology
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    • v.32 no.1
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    • pp.69-78
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    • 2009
  • The cardiovascular disease has been known as a common cause of death for a long time in the west. The eating habits of Asia, including Korea, have changed recently, so that this disease is also a problem in Asia now. Annual Report on the Cause of Death Statistics from 1996 to 2006 reported that the cardiovascular disease would become the number one cause of death in the next $5{\sim}10$ years. Therefore we realize that more accurate examination is required. The aim of this study was to investigate the accuracy of Calcium-scoring CT and the relationship between risk factor and quantitative scores of Calcium-scoring CT. Through this study we expect that the national public health will be improved. Seventy patients with chest pain were chosen at random. The patients were undergone both coronary CT antigraphy and Calcium - scoring CT at G hospital in Incheon from February 1 to June 30, 2008. The result of the Calcium-scoring CT showed its usefulness for Ischemic cardiovascular disease, with an accuracy similar to that of exercise/pharmacologic stress or ECG when it is difficult for a patient to exercise due to joint problems, aging or for other reasons.

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Alterations of Human Autonomic Nervous System Activity on Capsaicin Ingestion, and Variants of UCP1 and β3- -adrenergic Receptor Polymorphism (캡사이신 섭취와 UCP1 과 β3- adrenergic Receptor Polymorphism의 다양성에 대한 자율신경활동의 변화)

  • Ko, Ki-Jun;Shin, Ki-Ok
    • Journal of Life Science
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    • v.17 no.8 s.88
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    • pp.1075-1081
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    • 2007
  • We investigated whether 1) capsaicin ingestion (100 mg) enhances autonomic nervous system (ANS) activities associated with thermogenic sympathetic activity as energy metabolic modulator, 2) UCP1 and ${\beta}_{3}$-AR variants of each subjects influence with ANS activity. Eight healthy males (24.7 ${\pm}$ 1.8 yr) volunteered for this study. The cardiac autonomic nervous activities evaluated by means of heart rate variability of power spectral analysis and energy metabolism were continuously measured during 5-min rest for total 90-min resting condition with placebo or capsaicin oral administration chosen at random. The results indicated that there were no significant differences in heart rate during rest between both trials. Autonomic nervous activity increased in capsaicin tablet trial, but the difference did not reach the statistical significance. Capsaicin, however, induced significantly lower respiratory gas exchange ratio at Test3 (CAP: 0.80 ${\pm}$ 0.02 vs. 0.85 ${\pm}$ 0.02), means ${\pm}$ SE, p<0.05). In conclusion, it may be suggested the capsaicin consumption as a valuable supplement for the treatment of individual with hyperlipidemia and/or obesity by improving lipolysis. Further studies will also be considered genetic variants such as UCP1 and/or ${\beta}_{3}$-AR associated with obesity.