• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• 보건행정학회지
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• 제28권2호
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• pp.168-177
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• 2018

Background: This study investigates the potential volume and outcome association of coronary heart disease (CHD) patients who have undergone percutaneous coronary intervention (PCI) using a large and representative sample. Methods: We used a National Health Insurance Service-Cohort Sample Database from 2002 to 2013 released by the Korean National Health Insurance Service. A total of 8,908 subjects were analyzed. The primary analysis was based on Cox proportional hazards models to examine our hypothesis. Results: After adjusting for confounders, the hazard ratio of thirty-day and 1-year mortality in hospitals with a low volume of CHD patients with PCI was 2.8 and 2.2 times higher (p=0.00) compared to hospitals with a high volume of CHD patients with PCI, respectively. Thirty-day and 1-year mortality of CHD patients with PCI in low-volume hospitals admitted through the emergency room were 3.101 (p=0.00) and 2.8 times higher (p=0.01) than those in high-volume hospitals, respectively. Only 30-day mortality in low-volume hospitals of angina pectoris and myocardial infarction patients with PCI was 5.3 and 2.4 times those in high-volume hospitals with PCI, respectively. Conclusion: Mortality was significantly lower when PCI was performed in a high-volume hospital than in a low-volume hospital. Among patients admitted through the emergency room and diagnosed with angina pectoris, total PCI volume (low vs. high) was associated with significantly greater cardiac mortality risk of CHD patients. Thus, There is a need for better strategic approaches from both clinical and health policy standpoints for treatment of CHD patients.

• 지역사회간호학회지
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• 제25권4호
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• pp.248-258
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• 2014

Purpose: This study was to investigate factors influencing the Framingham risk score-Coronary heart disease (FRS-CHD) according to gender and body mass index (BMI) of adults who participated in the 5th Korea National Health and Nutrition Examination Survey (KNHANES V-3). Methods: This study used a cross-sectional design with secondary analysis with KNHANES V-3. The FRS-CHD scores were measured with ages, sex, blood pressure, cholesterol, high density lipoprotein, smoking, and diabetes mellitus. With demographic characteristics, family history of ischemic heart disease, types (intensity) and days of physical activities, perceived stress, drinking, menopause (in female), and BMI scores were measured. The data were analyzed with descriptive statistics, Pearson's correlation coefficients, and multiple regressions. Results: FRS-CHD was significantly associated with types (intensity) and days of physical activities, educational level, occupation, and marital status, explaining 19.1~76.8% of the variance in men. FRS-CHD was significantly associated with types (intensity) and days of physical activities, menopause, and education level, explaining 55.0~59.5% of the variance in women. Conclusion: Factors influencing FRS-CHD were significantly different according to gender and BMI. To reduce the risk of coronary artery disease, it is necessary to develop gender-specific physical activity programs according to BMI.

• Journal of Preventive Medicine and Public Health
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• 제32권4호
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• pp.491-498
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• 1999

Objectives : To determine the relations between seven blood lipids such as total cholesterol(TC), triglyceride(TG), HDL-cholesterol(HDL), LDL-cholesterol(LDL), apolipoprotein A-1(Apo A1), apolipoprotein B(Apo B) and lipoprotein(a)(Lp(A)) and the coronary heart diseases(CHD), the quantitative techniques of meta-analysis were applied to studios of blood lipids and CHD in Koreans. Methods : We searched the Korean and the English literature published from 1980 to August, 1997 by manual search and bibliography review. Information on sample size, study design, participant characteristics(gender, age) and blood lipid levels were abstracted by reviewers using inclusion criteria. Estimates of the effect sizes of blood lipid levels on CHD in Koreans and corresponding 95% confidence intervals were calculated using random-effect models. Results : We identified 16 case-control studies to apply meta-analysis. The overall effect sizes for CHD were 20.3(95% CI: 14.23-20.22) in TC, 24.8(95% CI: 12.6-36.86) in TG, 15.16(95% CI: 3.99-26.33) in LDL, -3.48(95% CI: -5.79 - -1.17) in HDL, -9.78(95% CI: -16.98 - -2.58) in Apo-a1, 17.88(95% CI: 9.72-26.05) in Apo B and 18.95(95% CI: 17.88-20.02) in Lp(a). Conclusions : Our results suggested that seven blood lipids were significantly associated with CHD in Koreans. Well-designed and prospective studies between blood lipids and CMD in Koreans should be peformed.

• Journal of Nutrition and Health
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• 제33권8호
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• pp.873-881
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• 2000

Recent research reported health risks associate with high carbohydrates diets. Objectives of this study were to evaluate in a cross-sectional study if high carbohydrate diet is associated with coronary heart disease(CHD) risk factors: examined blood concnetration of triglyceride(TG), total cholesterol, high density lipoprotein cholesterol(HDL-C), plasma glucose, systolic blood pressure(BP), body mas index(BMI), wasit-hip ratio(WHR) and waist-stature ratio(WSR). Using the most recent US National Health and Nutrition Examination Survey(IIINHANES III) data, the nationally representative US population (3772 men, 4095 women of 25-64 years of age) was divided into low vs. high carbohydrate diet groups(below 40% vs. above 60% energy intake from cab carbohydrates) and compared by the CHD risk factors. Triglyceride was higher(p<0.001) in the high carbohydrate group, whereas high density-lipoprotein cholesterol(HDL-C)was lower(p<0.01) in the high carbohydrate diet group. In plasma glucose, there was no significant differences between high carbohydrate diet and low carbohydrate diet. In adiposity(BMI, WHR and WSR), it also showed no significant differences, After adjustment for age, ethnicity, alcohol and smoking in upper 60%-carbohydrate diet, Odds Ratio of TG and HDL-C were 1.42 and 1.23 in men and 1.22 and 1.17 in women. 50-60% carbohydrate diet was associated with decreased risk of CHD. Dietary guidelines for Koreans recommend 60-70% of total energy from carbohydrate, as Koreans traditionally consumed high carbohydrate diets. In a cross-sectional population of adults, diets containing 55-60% energy from carbohydrate were suggested as a dietary guideline of carbohydrate intake for Koreans. (Korean J Nutrition 33(8) : 873-881, 2000)

• 성인간호학회지
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• 제20권6호
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• pp.917-931
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• 2008

Purpose: This study was aimed to determine the optimum low-density lipoprotein : high-density lipoprotein-cholesterol (LDL : HDL-C) ratio for predicting coronary heart disease(CHD) in Korean people. Methods: It was analyzed this data of 5,431 adults who had undergone health examinations in a hospital in Gyeonggi-do between January 2006 and December 2007. The covariation of the coronary risk factors such as age, HbA1C, systolic blood pressure(SBP), and waist-to-stature ratio(WSR) were analyzed by using logistic regression analysis. Results: The LDL : HDL-C ratio in the male and female groups was mostly distributed between 1.5 and 4.0. The LDL : HDL-C ratio was the most significant cholesterol-related parameter influencing CHD (male: B = .306, p = .054, female : B = .940, p = .010), followed by LDL-C and total cholesterol. It was observed a sharp increase in the odds ratios for LDL : HDL-C ratios of 2.25 - 2.50(male) and 2.00 - 2.25(female). A significant difference was observed in both male(2.25 : $x^2$ = 2.494, p = .072) and female(2.00 : $x^2$ = 413.742, p = .000) groups. Conclusion: The risk level of CHD was set to 2.25 for males and 2.00 for females. Therefore, the optimum LDL : HDL-C ratio for Koreans should be far lower than that for the people in western countries.

• 성인간호학회지
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• 제22권1호
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• pp.80-89
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• 2010

Purpose: This paper has attempted to investigate the association between the subclinical thyroid function disorder caused by natural change in thyroid hormones or thyroid remedies and the incidence of CHD. Methods: Data was analyzed of 7,675 women who had undergone health examinations in a hospital in Gyeonggi-do between January 2007 and December 2008. The covariation of the coronary risk factors such as age, BMI, HbA1C, systolic blood pressure, LDL:HDL-cholesterol ratio, CRP, smoking and exercise were analyzed by using logistic regression analysis. Results: A significant increase in serum TSH was observed with higher age (F=26.91, p=.00). In terms of age, the risk of CHD started to gradually increase since the 40s and sharply since the 60s (${\chi}^2$=113.29, p=.00). The serum TSH was the most significant parameter influencing CHD (B=.12, p=.00). The risk of coronary heart disease was 3.12 times higher in the subclinical hypothyroidism group (OR=3.12) while no significant difference was observed in the subclinical hyperthyroidism group. Conclusion: Subclinical hypothyroidism may be an independent risk factors for CHD. A nurse nursing patients with thyroid disorder should be well informed of their state of subclinical thyroid function disorder and make efforts to extend their health expectancy.

• Journal of information and communication convergence engineering
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• 제20권1호
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• pp.31-40
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• 2022

Coronary heart disease (CHD) is a comorbidity of COVID-19; therefore, routine early diagnosis is crucial. A large number of examination attributes in the context of diagnosing CHD is a distinct obstacle during the pandemic when the number of health service users is significant. The development of a precise machine learning model for diagnosis with a minimum number of examination attributes can allow examinations and healthcare actions to be undertaken quickly. This study proposes a CHD diagnosis model based on feature selection, data balancing, and ensemble-based classification methods. In the feature selection stage, a hybrid SVM-GA combined with fast correlation-based filter (FCBF) is used. The proposed system achieved an accuracy of 94.60% and area under the curve (AUC) of 97.5% when tested on the z-Alizadeh Sani dataset and used only 8 of 54 inspection attributes. In terms of performance, the proposed model can be placed in the very good category.

• Journal of Preventive Medicine and Public Health
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• 제45권5호
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• pp.291-300
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• 2012

Objectives: We aimed to estimate the annual socioeconomic burden of coronary heart disease (CHD) in Korea in 2005, using the National Health Insurance (NHI) claims data. Methods: A prevalence-based, top-down, cost-of-treatment method was used to assess the direct and indirect costs of CHD (International Classification of Diseases, 10th revision codes of I20-I25), angina pectoris (I20), and myocardial infarction (MI, I21-I23) from a societal perspective. Results: Estimated national spending on CHD in 2005 was $2.52 billion. The majority of the spending was attributable to medical costs (53.3%), followed by productivity loss due to morbidity and premature death (33.6%), transportation (8.1%), and informal caregiver costs (4.9%). While medical cost was the predominant cost attribute in treating angina (74.3% of the total cost), premature death was the largest cost attribute for patients with MI (66.9%). Annual per-capita cost of treating MI, excluding premature death cost, was $3183, which is about 2 times higher than the cost for angina ($1556). Conclusions: The total insurance-covered medical cost ($1.13 billion) of CHD accounted for approximately 6.02% of the total annual NHI expenditure. These findings suggest that the current burden of CHD on society is tremendous and that more effective prevention strategies are required in Korea.

• Clinical and Experimental Pediatrics
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• 제53권3호
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• pp.380-391
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• 2010

목 적 : RSV는 영아기에 세기관지염이나 폐렴을 일으키는 중요한 요인으로 알려져 있다. 건강한 영아에서는 RSV 감염으로 위중한 병을 일으키는 경우는 드물지만 선천성심장병과 관련된 심부전이나 청색증, 폐동맥고혈압의 상태에 있거나 조산 미숙 등과 관련된 만성폐질환 상태에 있는 영아의 경우 위중한 병을 일으킬 수 있다. 본 연구에서는 선천성심장병 소아와 비선천성심장병 소아에서 RSV 감염례를 조사하여 RSV 감염이 선천성심장병 환아에 미치는 영향에 대하여 조사하고자 하였다. 방 법 : 2003년 7월부터 2006년 6월까지 세종병원에 세기관지염이나 폐렴으로 입원한 343례의 환아의 비강 분비물에서 RSV 항원검사를 시행하여 RSV 감염에 의한 하기도염의 연령별 계절별 발생 양상을 조사하였다. RSV 감염된 하기도염 환아들에서 선천성심장병 환아의 여러 경우와 비심장병 환아의 입원 기간, 중환자 치료, 인공환기 치료 등 임상 경과를 비교하였다. 결 과 : RSV에 의한 하기도염은 어린 영아기에 많이 발생하고 있으며 온대지방에서는 겨울철에 유행하는 양상을 보이고 있다. RSV에 의한 하기도염 환아 중 선천성심장병 환아에서 비심장병 환아에 비하여 중증 감염이 많았고 장기입원을 보였다(P <0.01). 비교적 간단한 단순단락 병변인 ASD, PDA, VSD 등의 선천성심장병에서 심장수술로 교정되고 충분히 회복된 환자에서는 RSV에 의한 하기도염에서 비교적 짧은 입원기간과 가벼운 경과를 보여 비심장병 환아와 큰 차이가 없었다. 선천성심장병에 대한 완전교정 수술이나 단계적 고식수술 후에도 감염, 폐동맥고혈압, 판막역류, 혈관협착 등의 원인으로 심폐계에 상당한 문제가 남아있는 경우 RSV 감염시 비심장병 환아에 비하여 장기 입원을 보이고(P <0.01) 중증 경과를 보였다. 교정수술 받지 않은 상태의 선천성심장병을 가진 환아에서는 대부분 6개월 이내의 어린 나이에 RSV에 의한 하기도염이 발생하고 있으며 비심장병 환아에 비하여 장기 입원을 보이고(P <0.01) 중증 경과를 보였다. 선천성심장병 심장수술 후 1개월 이내의 회복기에 병원 감염을 포함하여 상당수의 RSV 감염이 발생하고 있음을 확인하였으며 이들은 심장수술 직후의 면역기능 저하와 관련하여 중증 감염으로 발전할 가능성이 있을 것으로 생각된다. 결 론 : 미교정 상태의 선천성심장병 환아와 교정 후에도 계속 심폐계에 문제가 남아있는 선천성심장병 환아에서 RSV 감염에 의해 중증 경과와 장기 입원이 초래될 수 있다. 선천성심장병 환아에서 이러한 RSV 감염의 피해를 줄이기 위해서는 RSV 감염으로 심각한 위험이 초래 될 수 있는 고위험 세부군의 파악과 이들에 대한 예방 항체 치료 등 적절한 예방 노력이 필요하다.