• 대한소아치과학회지
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• 제37권2호
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• pp.207-212
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• 2010

단백 C 결핍증은 항응고인자인 단백 C의 결핍으로 혈전 색전증의 위험성이 높다. 선천성 단백 C 결핍증 중 동형접합성 단백 C 결핍증은 단백 C의 활성도가 측정되지 않을 정도로 낮고 1/25만~50만의 발생 빈도를 가지는 희귀한 질환이다. 동형접합성 단백 C 결핍증의 주요 증상은 자반성 및 괴사성 피부 병변, 반상출혈, 실명, 중추신경계의 혈전증 등이다. 본 증례는 동형접합성 단백 C 결핍증인 만 4세 여아로 치아의 전반적인 우식을 주소로 내원하였다. 본 환아는 와파린 복용 중이었고 치과치료시 합병증의 예방을 위해 소아청소년과에 협진 의뢰하였다. 와파린 복용 중단 시 혈전으로 인한 심각한 합병증이 예상되어 와파린을 적절하게 (INR 3~5) 복용하되 치과 치료 중 과다 출혈 시 신선냉동혈장으로 조절할 것을 권고받았다. 이 환아는 실명을 동반한 중증 장애 아이로 행동조절이 어려웠고 과다 출혈시 신속한 처치가 가능하도록 하기 위해 전신마취 하에 치과치료를 시행하였다. 저자는 치아의 전반적인 우식을 주소로 내원한 만 4세 단백 C 결핍 환아에 대하여 전신마취 하 치과치료를 시행하였으며 다소의 지견을 얻었기에 보고하는 바이다.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.123-126
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• 1999

A successful outcome of pregnancy requires an efficient uteroplacental vascular system. Since this system may be compromised by disorders of haemostasis associated with a prothrombotic state, maternal thrombophilia might be a risk factor for fetal loss. Hereditary deficiencies of the naturally occuring anticoagulants are well recognized conditions predisposing to recurrent venous thromboembolism. Since thrombotic phenomena have been implied as a cause of abortion and stillbirth, these deficiencies might increase the risk of fetal demise. We have experienced a case of antiphospholipid syndrome associated with protein C deficiency in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

• Molecules and Cells
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• 제37권11호
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• pp.777-784
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• 2014

Epidemiologic studies have shown that low-density lipoprotein cholesterol (LDL-C) is a strong risk factor, whilst high-density lipoprotein cholesterol (HDL-C) reduces the risk of coronary heart disease (CHD). Therefore, strategies to manage dyslipidemia in an effort to prevent or treat CHD have primarily attempted at decreasing LDL-C and raising HDL-C levels. Cholesteryl ester transfer protein (CETP) mediates the exchange of cholesteryl ester for triglycerides between HDL and VLDL and LDL. We have published the first report indicating that a group of Japanese patients who were lacking CETP had extremely high HDL-C levels, low LDL-C levels and a low incidence of CHD. Animal studies, as well as clinical and epidemiologic evidences, have suggested that inhibition of CETP provides an effective strategy to raise HDL-C and reduce LDL-C levels. Four CETP inhibitors have substantially increased HDL-C levels in dyslipidemic patients. This review will discuss the current status and future prospects of CETP inhibitors in the treatment of CHD. At present anacetrapib by Merck and evacetrapib by Eli Lilly are under development. By 100mg of anacetrapib HDL-C increased by 138%, and LDL-C decreased by 40%. Evacetrapib 500 mg also showed dramatic 132% increase of HDL-C, while LDL-C decreased by 40%. If larger, long-term, randomized, clinical end point trials could corroborate other findings in reducing atherosclerosis, CETP inhibitors could have a significant impact in the management of dyslipidemic CHD patients. Inhibition of CETP synthesis by antisense oligonucleotide or small molecules will produce more similar conditions to human CETP deficiency and may be effective in reducing atherosclerosis and cardiovascular events. We are expecting the final data of prospective clinical trials by CETP inhibitors in 2015.

• Journal of Preventive Medicine and Public Health
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• 제48권5호
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• pp.249-256
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• 2015

Objectives: Epidemiological studies have reported that vitamin D deficiency is associated with inflammatory disease. Smoking is a well-known risk factor for inflammation. However, few studies have investigated the interactive effect of vitamin D deficiency and smoking on inflammation. This study aims to investigate the interaction of vitamin D and smoking with inflammatory markers in the urban elderly. Methods: We used data from the Korean Elderly Environmental Panel Study, which began in August 2008 and ended in August 2010, and included 560 Koreans ${\geq}60$ years old living in Seoul. Data was collected via questionnaires that included items about smoking status at the first visit. Vitamin D levels, high-sensitivity C-reactive protein (hs-CRP), and white blood cell (WBC) counts were repeatedly measured up to three times. Results: The association of vitamin D and hs-CRP was significant after adjusting for known confounders (${\beta}=-0.080$, p=0.041). After separate analysis by smoking status, the association of vitamin D deficiency and hs-CRP in smokers was stronger than that in nonsmokers (smokers: ${\beta}=-0.375$, p=0.013; non-smokers: ${\beta}=-0.060$, p=0.150). Smoking status was an effect modifier that changed the association between vitamin D deficiency and hs-CRP (interaction estimate: ${\beta}=-0.254$, p=0.032). Vitamin D was not significantly associated with WBC count (${\beta}=0.003$, p=0.805). Conclusions: Vitamin D deficiency was associated with hs-CRP in the urban elderly. Smoking status was an effect modifier of this association. Vitamin D deficiency was not significantly associated with WBC count.

• Molecules and Cells
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• 제20권2호
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• pp.228-234
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• 2005

Caenorhabditis elegans him-6 mutants, which show a high incidence of males and partial embryonic lethality, are defective in the orthologue of human Bloom's syndrome protein (BLM). When strain him-6(e1104) containing a missense him-6 mutation was irradiated with ${\gamma}$-rays during germ cell development or embryogenesis, embryonic lethality was higher than in the wild type, suggesting a critical function of the wild type gene in mitotic and pachytene stage germ cells as well as in early embryos. Even in the absence of ${\gamma}$-irradiation, apoptosis was elevated in the germ cells of the him-6 strain and this increase was dependent on a functional p53 homologue (CEP-1), suggesting that spontaneous DNA damage accumulates due to him-6 deficiency. However, induction of germline apoptosis by ionizing radiation was not significantly affected by the deficiency, indicating that HIM-6 has no role in the induction of apoptosis by exogenous DNA damage. We conclude that the C. elegans BLM orthologue is involved in DNA repair in promeiotic cells undergoing homologous recombination, as well as in actively dividing germline and somatic cells.

• Journal of Nutrition and Health
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• 제41권8호
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• pp.691-700
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• 2008

본 연구는 착상 후 단계의 쥐 배아와 난황낭을 대상으로 구리 결핍이 NO 하부 신호전달체계에 영향을 주는지를 알아보기 위한 것으로, 연구 결과는 다음과 같이 요약할 수 있다. 첫째, 구리 결핍은 정상적인 배아 및 난황낭 발달을 억제하고, NO의 생물학적 이용도와 아세틸콜린에 대한 NO dose-response를 낮추었다. 둘째, 구리 결핍은 NO의 하부 신호전달 물질인 cGMP 수준을 감소시켰으나, NO/cGMP 하부 신호전달체계 표적 중 하나인 P-VASP에는 영향을 미치지 않았다. 셋째, 구리 결핍 배양액에 NO donor를 첨가하는 것은 구리 결핍 배아와 난황낭의 기형 발생 빈도를 구리 정상군과 비슷한 수준으로 개선시켰다. 넷째, NO donor 첨가는 구리 결핍군에서 감소되었던 cGMP의 농도를 유의적으로 증가시켰지만, P-VASP에는 영향을 미치지 않았다. 상기 연구 결과들은 구리 결핍으로 인한 NO의 생물학적 이용도의 감소가 기형발생의 주요 발생 기전이라는 것을 뒷 받침하고 있다. 또한, 임상적으로 임신 기간 중 적절한 구리 섭취의 중요성을 강조한다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.29-31
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• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• Journal of Nutrition and Health
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• 제29권8호
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• pp.881-888
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• 1996

The purpose of this study was to determine whether vitamin B6(B6) deficiency affects fuel utilization and blood cholesterol profile with exercise-training. Twenty-four rats were fed a B6 deficient(-B6) diet or a control (+B6) diet for 5 weeks and either exercised(EX) or nonexercised (NE). EX rats were exercised on treadmill(10$^{\circ}$, 0.5-0.8km/h) for 20 minutes everyday. Glucose(GLU), glycogen (GLY), protein(PRO), trglyceride(TG), free fatty acid(FFA), total cholesterl(TC), HDL-cholesterol(HDL-C) and LDL-choleterol(LDL-C) were compared in plasma(P), liver(L) and skeletal muscle(M) of rats. There was a vitamin effect on the level of P-GLU, P-TG, M-TG, L-GLY, L-PRO and an exercise effect on the level of P-PRO, P-FFA, M-PRO, L-GLY, L-TG, P-TC, P-HDL-C, P-LDL-C. Compared to +B6 rats were lower and there were no differences in P-GLU, P-FFA, P-TG. M-GLY, L-TG, P-TC and P-HDL-C. In EX group, the level of P-TG was higher and M-PRO was lower in -B6 rats. There were no differences in M-GLY, L-TG, P-TC and P-HDL-C. These results suggest that a lowered intake of vitamin B6 may impair the adaptation of animals to fuel metabolism related to a decrease of fatty acid oxidation and attenuates the exercise-traning effect on blood lipid profile.

• Journal of Nutrition and Health
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• 제32권7호
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• pp.787-792
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• 1999

The purpose of this study was to estimate the iron availability and to analyze dietary factors which influence hematological indices of 130 female adolescents with iron deficiency anemia. Intakes of iron and other nutrients were estimated using a self-administrated questionnaire combined with the 24-hour recall mehtod and iron availability was calculated by Monsen's method. Mean daily intakes of calorie, protein and vitamin C were 1631.0kcal(77.7% of RDA), 54.7g(84.2% of RDA) and 45.7mg(83.0% of RDA), respectively. In terms of iron, mean daily intake was 8.7mg(48.3% of RDA) and heme iron intake was 3.0mg which correspond to 34% of total iron intake. The amount of total absorbable iron was 1.5mg and the estimated bioavailability of dietary iron was 17.2%. In summary, intake of several nutrients for most of the subjects were under RDA. Dietary factors affecting hematological indices were analyzed by stepwise multiple regression. Intake of vitamin C was a major determinant of Hb level, while both intake of enhancing factor and iron availability were major determinants of serum ferritin level. In conclusion proper nutritional education and guidance for iron deficiency anemic female adoalescent needs to be developed and to improve their iron storage should be increased intakes of enhancing factors, female adoalescents.

• Journal of Nutrition and Health
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• 제44권3호
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• pp.222-230
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• 2011

This study was undertaken to investigate iron status and related factors in female college students residing in Gyeongnam. The subjects were divided into normal (40.8%) and iron deficiency (ID) groups (59.2%) by iron status. Mean height, weight, lean body mass, percent body fat, body mass index, and wrist to hip ratio were not significantly different between the groups, but basic metabolic rate was significantly higher in the normal group than that in the ID group. The levels of hemoglobin, hematocrit, serum ferritin, transferrin saturation, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration were significantly higher in the normal group than those in the ID group. However, total iron binding capacity was significantly lower in the normal group than that in the ID group. Daily intake of protein, heme-Fe, niacin, and vitamin C were significantly higher in the normal group than those in the ID group. The mean intake of protein, Fe, niacin, vitamin $B_{12}$, and vitamin C based on the Korean recommended intake (RI) were significantly higher in the normal group than those in the ID group. The mean intakes of Ca, vitamin $B_{12}$, and folate in both groups were < 75% of the Korean RI. In conclusion, increasing dietary heme-Fe and vitamin C may be helpful for preventing ID anemia in female college students.