• BMB Reports
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• 제48권12호
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• pp.647-654
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• 2015

Energy homeostasis in our body system is maintained by balancing the intake and expenditure of energy. Excessive accumulation of fat by disrupting the balance system causes overweight and obesity, which are increasingly becoming global health concerns. Understanding the pathogenesis of obesity focused on studying the genes related to familial types of obesity. Recently, a rare human genetic disorder, ciliopathy, links the role for genes regulating structure and function of a cellular organelle, the primary cilium, to metabolic disorder, obesity and type II diabetes. Primary cilia are microtubule based hair-like membranous structures, lacking motility and functions such as sensing the environmental cues, and transducing extracellular signals within the cells. Interestingly, the subclass of ciliopathies, such as Bardet-Biedle and Alström syndrome, manifest obesity and type II diabetes in human and mouse model systems. Moreover, studies on genetic mouse model system indicate that more ciliary genes affect energy homeostasis through multiple regulatory steps such as central and peripheral actions of leptin and insulin. In this review, we discuss the latest findings in primary cilia and metabolic disorders, and propose the possible interaction between primary cilia and the leptin and insulin signal pathways which might enhance our understanding of the unambiguous link of a cell's antenna to obesity and type II diabetes.

• Tuberculosis and Respiratory Diseases
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• 제42권6호
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• pp.934-940
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• 1995

기침, 호흡곤란 및 성한 전신 쇄약감을 주소로 내원하여 기관지 내시경 및 경부 림프절 생검을 통한 조직검사로 소세포 폐암을 확진하고, 병력상 심한 전신무력감 및 체중감소를 호소해며, 검사상 성한 저칼륨혈증 및 대사성 알칼리증의 소견이 있으며, 최근 발생된 고혈당, 고혈압 등의 증상이 있어 시행한 내분비학적 생화학 검사상 혈중 cortisol이 상승하고, cortisol의 일간 변동(diurnal variation)이 소실되었으며, 24시간 뇨 free cortisol의 현저한 상승으로 Cushing 증후군이 paraneoplastic syndrome으로 소세포 폐암에서 동반되었음을 확인한 1예를 경험하였기에 보고하는 바이다.

• 지능정보연구
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• 제16권3호
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• pp.181-199
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• 2010

인구의 고령화 및 건강에 대한 관심이 증가됨에 따라 유헬스케어 서비스는 발병 후 관리관점에서 발병 전의 예방 관점으로 그 목적이 점차 이동하고 있다. 그러나 기존의 유헬스케어 서비스는 원격진료 차원의 의료 서비스 성격이 강하여, 만성 성인병과 같은 대사 증후군을 예방 및 관리하기에는 한계가 있을 뿐만 아니라, 관리자 중심의 단방향 서비스를 제공함으로 인해 사용들이 중도에 이용을 포기하는 비율이 높았다. 이와 같은 문제를 해결하기 위하여, 본 연구에서는 사회 네트워크를 이용한 사용자 기반 유헬스케어 서비스 추천 시스템을 제안하였으며, 실세계에서 유헬스케어 서비스 추천 시스템의 활용 가능성을 제시하기 위하여 실제 의료원에서 대사 증후군 예방 및 관리를 위해 처방한 식단 및 운동 정보를 기반으로 유비쿼터스 컴퓨팅 환경에서 적용가능한 시스템을 구현하였다. 본 연구에서 제안한 시스템은 사용자가 선호하지 않는 서비스가 네트워크를 통해 확산될 가능성을 낮추는 동시에 추천의 신뢰성 제고를 위해 네이버들이 이용한 서비스를 공유함으로써 전체적인 추천 품질을 높인다. 즉, 사용자의 식습관 및 운동습관 등과 같은 생활습관을 개선하기 위하여 사회 네트워크를 활용함으로써 사용자간의 자율협업을 통한 개인화된 추천이 가능하다. 따라서 본 연구에서 제안하는 유헬스케어 서비스 추천 시스템은 생활습관 개선을 위하여 사용자에게 적합한 식단 및 운동을 제공하고, 생활습관의 개선을 통해 만성 성인병과 같은 대사증후군을 사전에 예방할 수 있을 것으로 기대된다.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.85-89
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• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• 대한유전성대사질환학회지
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• 제18권2호
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• pp.50-54
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• 2018

Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.

• 대한간호학회지
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• 제37권6호
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• pp.902-913
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• 2007

Purpose: The purpose of this study was to identify the effects of a physical activity-behavior modification combined intervention(PABM-intervention) on metabolic risk factors in overweight and obese elementary school children. Methods: Thirty-two participants ($BMI\geq85$ percentile or relative $obesity\geq10$) were allocated to the PABM-intervention group and behavior modification only intervention group. The PABM -intervention was composed of exercise intervention consisting of 50 minutes of physical activity(Hip-hop dance & gym-based exercises) twice a week and the behavior modification intervention consisted of 50 minutes of instruction for modifying lifestyle habits(diet & exercise) once a week. Effectiveness of intervention was based on waist circumference, BP, HDL-cholesterol, TG, and fasting glucose before and after the intervention. Results: The proportion of subjects with 1, 2, 3 or more metabolic risk factors were 28.1, 43.8, and 15.6%, respectively. After the 8-week intervention, waist circumference, systolic BP, diastolic BP, and HDL-cholesterol changed significantly(p<.01) in the PABM group. Conclusion: This provides evidence that a PABM-intervention is effective in changing metabolic risk factors such as waist circumference, systolic BP, diastolic BP, and HDL-cholesterol in overweight and obese elementary school children.

• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.139-146
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• 2012

Obese postmenopausal women increase their risk of developing breast cancer (BC), in particular if they display an android-type pattern of adiposity, which is also associated to increased risks of diabetes mellitus, hypertension and cardiovascular disease. In order to explore the associations among anthropometry (body mass index, body composition, somatotype), some specific items of medical history (diabetes, hypertension, dislypidemias, hyperuricemia) and the risk of BC in Uruguayan women, a case-control study was carried out between 2004-2009 at our Oncology Unit. 912 women of ages between 23-69 years (367 new BC cases and 545 non hospitalized, age-matched controls with a normal mammography) were interviewed. Twenty body measurements were taken in order to calculate body composition and somatotype. Patients were queried on socio-demographics, reproductive history, family history of cancer, a brief food frequency questionnaire and on personal history of diabetes, dislypidemias, hyperuricemia, hypertension and gallbladder stones. Uni- and multivariate analyses were done, generating odds ratios (ORs) as an expression of relative risks. A personal history of diabetes was positively associated to BC risk (OR=1.64, 95% CI 1.00-2.69), being higher among postmenopausal women (OR=1.92, 95% CI 1.04-3.52). The risks of BC for diabetes in postmenopausal women with overweight combined with dislypidemia (OR=9.33, 95% CI 2.10-41.5) and high fat/muscle ratio (OR=7.81, 95% CI 2.01-30.3) were significantly high. As a conclusion, a personal history of diabetes and overweight was strongly associated to BC. The studied sample had a subset of high-risk of BC featured by postmenopausal overweight and diabetic women, who also had a personal history of hypertension and/or dyslipidemia. The present results could contribute to define new high risk groups and individuals for primary as well as for secondary prevention, since this pattern linked to the metabolic syndrome is usually not considered for BC prevention.

• 대한방사선기술학회지:방사선기술과학
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• 제41권4호
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• pp.305-312
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• 2018

The incidence of cardiovascular disease increases rapidly after 40's. The thickness of the epicardial adipose tissue was measured to analyze the risk factors affecting the thickness change. We present the cut off value for the epicardial adipose tissue thickness for high impacted variables. For the study, 547 patients underwent echocardiography, epicardial adipose tissue thickness, body mass index, abdominal subcutaneous fat thickness and diabetes mellitus were used as analytical variables. As a result, multiple regression analysis of age group showed that diabetes mellitus was highly influential in all age group, so we could predict the cut off value for the epicardial adipose tissue thickness for diabetes mellitus. As a result of ROC curve analysis, cut off value of 7.44 mm was obtained with sensitivity of 79.6% and specificity of 60.6% for diab etes variab le. Logistic regression analysis b ased on this value showed that the risk for diab etes increased 6 times with each increase in the thickness of the epicardial adipose tissue. Among the various obesity indexes, epicardial adipose tissue is used as an important index especially to prevent the risk of cardiovascular disease. Therefore, we suggest that the use of echocardiography as a routine screening method for the prevention of cardiovascular disease and metabolic syndrome, which is rapidly increasing in patients over 40's age, will enable more effective monitoring. Radiation is the emission or transmission of energy in the form of waves or particles through space or through a material medium.

• 대한지역사회영양학회지
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• 제23권4호
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• pp.277-288
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• 2018

Objectives: This study was performed to verify the validity and judgment criteria setting of a health status assessment tool based on dietary patterns for middle-aged women. Methods: A total of 474 middle-aged women who visited the Comprehensive Medical Examination Center at Hanmaeum Hospital in Changwon were enrolled (IRB 2013-0005). The validity was verified using clinical indicators for the diagnosis of metabolic syndrome (MS), and it was used to set the criteria for the tool. A logistic regression analysis was performed for validation. The area under-receiver operation (AUC), sensitivity, specificity, and Youden Index were calculated through ROC curve analysis. Statistical analysis was performed by SPSS 21, and p value <0.05 was considered to be statistically significant. Results: The mean score of the group with no MS (73.3 points) was significantly higher compared to the group with MS (65.7 points) (p<0.001). An analysis of the association between the tool scores and risk of MS showed a 0.15-fold reduction in the risk of MS every time the tool's score increased by one point. As the result of the ROC curve analysis, the assessment reference point was set to 71 points, indicating 77.0% sensitivity and 61.0% specificity. Risk of MS was significantly higher in the group with a score of less than 71.0 than a group with more than 71 points (OR=5.28, p<0.001). Conclusions: This study was the first attempt to develop a health status assessment tool based on the dietary patterns for middle-aged women, and this tool has proven its usefulness as an MS assessment tool through the application of middle-aged women in the field of health screening.

• 대한임상검사과학회지
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• 제41권4호
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• pp.196-207
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• 2009

For the estimation of prevalence state of major chronic adult disease and their relationships with drinking and smoking habits in the Korean employees, we analyzed a medical check-up data of 155,799 subjects that was accumulated during the year of 2008. In age and sex distribution of the sample, male subjects were 106,229 and female 51,827 showing the ratio of 2:1 and the majorities were 30s and 40s covering 70.7% of the total. The prevalence rates of major chronic diseases were obesity 29.8% (male 38.3%, female 12.3%), hypertension 4.1%, HBV carrier inactive 3.3%, diabetes mellitus 2.9%, hypothyroidism 1.7% (male 1.3%, female 2.4%), hyperlipidemia 1.1%, hyperthyroidism 1.4% (male 1.1%, female 2.1%), osteoporosis 1.4% (male 1.4%, female 1.4%), anemia 0.9% (male 0.3%, female 2.0%) and renal disease 0.9%. The frequency of and volume of drinking in male group were 4.6 times and 7.5 times higher than female group respectively. The 33.8% of the workers were smoking currently. In the serological tests, all the items such as AST, ALT, ${\gamma}-GTP$, LDH for liver function, Cholesterol, TG, uric acid for hyperlipidemia and BP systolic, Fasting blood sugar, BMI for metabolic syndrome were significantly higher in the more drinking and more smoking groups than other groups (p<0.001). The higher prevalence rates in male group in the liver disease seems to be strongly related with the drinking and smoking habits in male employees. We suggest that employees should rather relying on leisure or hobbies than drinking and smoking for the stress relief.