• Clinical and Experimental Pediatrics
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• 제45권2호
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• pp.183-191
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• 2002

목 적 : 본 연구에서는 임상적으로 XLA로 진단받고 현재 치료 중인 한가족 3명 환아의 가계를 대상으로 말초혈액 단핵구의 Btk 단백질 발현과 Btk 유전자 변이를 분석하고자 하였다. 방 법 : 환아 말초혈액 단핵구의 Btk 발현도를 항 Btk 항체를 이용한 유세포계측을 통해 분석하고 PCR-SSCP 및 직접 염기서열 분석에 의해 Btk 유전자 변이를 분석하였다. 결 과 : 유세포 계측 및 PCR-SSCP에 의하여 가계내의 환자 3명 및 보인자 4명을 확인하였으며 환아들의 단핵구의 Btk 발현도를 조사한 결과 2.7% 미만으로 건강인에 비해 매우 유의한 감소를 나타내었다. 유전자 변이 분석 결과 Btk 유전자 exon 3에서 점돌연변이($T{\rightarrow}C$)가 발견되어 61번째 아미노산의 치환이 일어난 과오돌연변이를 확인할 수 있었다. 동일한 유전형을 지닌 3명의 환아들은 임상적으로 매우 다양한 표현형을 나타내었다. 특히 환아들의 혈청 IgG level이 낮을수록 임상 양상은 심한 소견을 보였다. 결 론 : 본 연구 결과를 종합해 볼 때 임상적으로 XLA로 진단된 환아와 가족에 대한 항 Btk 항체를 이용한 유세포계측 및 PCR-SSCP 방법은 XLA 환아 및 보인자의 진단에 매우 유용하며 신속하게 적용될 수 있는 기법으로 생각된다. 또한 분자유전학 기법을 이용하여 환아의 유전자 변이를 검색한 결과 Btk의 PH 도메인 내 한개의 과오돌연변이를 검색하여 XLA를 최종 확진할 수 있었다.

• Journal of Nutrition and Health
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• 제7권3호
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• pp.27-44
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• 1974

A general survey of 82 perschool children and 473 school children (from 1st to 3rd grade) residing in the Dongnae area of Shindong Myun, choonseoung Gun, Kangwon Province was conducted from June 12 to 21, 1973, to obtain information concerning nutritional status, especially the protein and iron nutrition of preschool and school children in a rural area of Korea. A sample of 58 children 2 to 9 years old was selected from these 555 children for hematological, biochemical and parasitological tests. The results of these tests are presented below, 1) Both the mean body height and mean body weight of these children were higher and heavier than the averages in the Korean Physical Standards. About 39 per cent were above the 90 th percentile of the Korean Physical Standards of height and 35 per cent were above the 90th percentile of the Korean Physical Standards of weight. 2) The rate of infestation by helminthes was 67.6 per cent and there were no cases of hookworm infestation Among the ascaris-infected children, 61.6 per cent fell within an Ascaris E.P.G. count range of $501{\sim}2,000$. This was considered a rather mild intensify of ascaris infection. Nutrient loss due to helminthes was also estimated to be low. 3) The mean hemoglobin level was 11.3gm% $({\pm}0.94)$, and 68.4 per cent of the children were anemic (less than 11gm% among those 5 years old or less, less than l2gm% among those 6 years old or more). The average hematocrit value was 36.1% $({\pm}2.36)$, and only 3.5 per cent showed more than 34% on the M.C.H.C. test. These results showed that the incidence of anemia, in these rural children was high, and that in general it displayed hypochromic characteristics. 4) The average serum iron level was $78.2{\mu}g%$\;({\pm}29.8). The Proportion of the children showing less than $50{\mu}g% in the serum iron level was 5.6 per cent, while 41.8 percent revealed $450{\mu}g% or more in the TIBC determination. Transferrin saturation was below 15% in 71.4 percent of the preschool children, and in 28.6 percent of the school children. Those who had a serum iron level of $50{\mu}g% or less and a TIBC of more than $450{\mu}g% constituted 11.9 percent of the children examined. From these results, it was concluded that especially preschool children were low in iron nutrition, and that most of the anemia might be iron-deficiency anemia. 5) The mean values of total serum protein and albumin were 6.98gm% and 4.99gm% respectively. Especially in serum albumin, all children stowed more than 4 gm%. 6) The mean urinary urea nitrogen Per creatinine ratio was 11.5 $({\pm}4.2)$, and 21.8 percent had a ratio of more than 15. Considering these results, it was suggested that protein nutrition in these children was relatively good.

• Archives of Pharmacal Research
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• 제25권6호
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• pp.747-758
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• 2002

The skin displays a highly active metabolism of polyunsaturated fatty acids (PUFA). Dietary deficiency of linoleic acid (LA), an 18-carbon (n-6) PUFA, results in characteristic scaly skin disorder and excessive epidermal water loss. Although arachidonic acid (AA), a 20-carbon (n6) PUFA, is metabolized via cyclooxygenase pathway into predominantly prostaglandin $E_2(PGE_2)$ and $PGF_{2{\alpha}}$, the metabolism of AA via the 15-lipoxygenase (15-LOX) pathway, which is very active in skin epidermis and catalyzes the transformation of M into predominantly 15S-hydroxyeicosatetraenoic acid (15S-HETE). Additionally, the 15-LOX also metabolizes the 18-carbon LA into 13S-hydroxyoctadecadienoic acid (13S-HODE), respectively. Interestingly, 15-LOX catalyzes the transformation of $dihomo-{\gamma}-linolenic$ acid (DGLA), derived from dietary gamma-linolenic acid, to 15S-hydroxyeicosatrienoic acid (15S-HETrE). These monohydroxy fatty acids are incorporated into the membrane inositol phospholipids which undergo hydrolytic cleavage to yield substituted-diacylglycerols such as 13S-HODE-DAG from 13S-HODE and 15S-HETrE-DAG from 15S-HETrE. These substituted-monohydroxy fatty acids seemingly exert anti-inflammatory/antiproliferative effects via the modulation of selective protein kinase C as well as on the upstream/down-stream nuclear MAP-kinase/AP-1/apoptotic signaling events.

• 대한지역사회영양학회지
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• 제8권3호
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• pp.302-310
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• 2003

This study was undertaken to assess nutritional status of the low income elderly residing in Gwangju. Anthropometric data showed that mean height of the subjects was lower than that of Korean Standard Growth data but weight was similar to that standard value. As the subjects became older, their heights and weights were decreased. Body mass index (BMI) in males and females were 22.9 and 24.4 respectively. However, BMI distribution showed that 56% of the elderly females under 75 were underweight. Advancing age conoibutes significant difference in triceps skinfold thickness in females (p < 0.001). Total cholesterol level was higher in the elderly females than the males. It was found that a considerable number of subjects had anemia determined by hemoglobin and hematocrit level, which indicated un iron deficiency. Twenty-four hour dietary recall revealed that, except for phosphorus and vitamin C, all the nutrient intakes of the subjects were below 75％ of Korean RDA. Surprisingly, vitamin A and riboflavin intakes of the elderly were below 50％ of Korean RDA. Energy intakes of the elderly males and females were 58.7% and 59.6% of Korean RDA respectively. Unbalanced energy ratios of carbohydrate, protein and fat were noted in both genders. Nutrient intakes of females' were lower than those of males'. Thus, there was a significant gender difference in nutrient intakes. It might be further suggested that an appropriate nutritional program should be developed and implemented to improve the Poor nutritional status of the low income elderly living in cities.

• Journal of Nutrition and Health
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• 제16권3호
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• pp.193-199
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• 1983

Clinical and epidemiologic data point to a causal interrelationship between nutritional deficiency and infectious illness. Both are major contributors to childhood morbidity and mortality, particulary in underprivileged population groups. Protein-calorie malnutrition depress a variety of immune funtions. Delayed hypersensitivity and number of T-lymphocytes are consistently reduced. The interrelationship between nutritional status and immune response was studied in 80 children aged under 6 years. According to the anthropometric assessment based on weight for height for age, 36 children were classified as normal, 22 as morderate malnutrition, and 22 as severe malnutrition. The following determinations were made : hemeglobin, hematocrit, serum albumin, immunoglobulin G, complement 3, and WBC levels. Results indicate that levels of Hb, Hct, serum albumin, and C3 concentration were decreased in moderate and severe malnutrition children. However, levels of IgG and WBC were not affected by the nutritional status. It is suggested that nutritional status has more profound effects on complement system than humoral immunity.

• Biomolecules & Therapeutics
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• 제29권4호
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• pp.427-433
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• 2021

Free fatty acid receptor 2 (FFA2, also known as GPR43), a G-protein-coupled receptor, has been known to recognize short-chain fatty acids and regulate inflammatory responses. FFA2 gene deficiency exacerbated disease states in several models of inflammatory conditions including asthma. However, in vivo efficacy of FFA2 agonists has not been tested in allergic asthma. Thus, we investigated effect of 4-chloro-α-(1-methylethyl)-N-2-thiazoylylbenzeneacetanilide (4-CMTB), a FFA2 agonist, on antigen-induced degranulation in RBL-2H3 cells and ovalbumin-induced allergic asthma in BALB/c mice. Treatment of 4-CMTB inhibited the antigen-induced degranulation concentration-dependently. Administration of 4-CMTB decreased the immune cell numbers in the bronchoalveolar lavage fluid and suppressed the expression of inflammatory Th2 cytokines (IL-4, IL-5, and IL-13) in the lung tissues. Histological studies revealed that 4-CMTB suppressed mucin production and inflammation in the lungs. Thus, results proved that FFA2 functions to suppress allergic asthma, suggesting 4-CMTB activation of FFA2 as a therapeutic tool for allergic asthma.

• Journal of Yeungnam Medical Science
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• 제40권4호
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• pp.328-334
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• 2023

An aging population and changes in dietary habits have increased the incidence of diabetes, resulting in complications such as diabetic foot ulcers (DFUs). DFUs can lead to serious disabilities, substantial reductions in patient quality of life, and high financial costs for society. By understanding the etiology and pathophysiology of DFUs, their occurrence can be prevented and managed more effectively. The pathophysiology of DFUs involves metabolic dysfunction, diabetic immunopathy, diabetic neuropathy, and angiopathy. The processes by which hyperglycemia causes peripheral nerve damage are related to adenosine triphosphate deficiency, the polyol pathway, oxidative stress, protein kinase C activity, and proinflammatory processes. In the context of hyperglycemia, the suppression of endothelial nitric oxide production leads to microcirculation atherosclerosis, heightened inflammation, and abnormal intimal growth. Diabetic neuropathy involves sensory, motor, and autonomic neuropathies. The interaction between these neuropathies forms a callus that leads to subcutaneous hemorrhage and skin ulcers. Hyperglycemia causes peripheral vascular changes that result in endothelial cell dysfunction and decreased vasodilator secretion, leading to ischemia. The interplay among these four preceding pathophysiological factors fosters the development and progression of infections in individuals with diabetes. Charcot neuroarthropathy is a chronic and progressive degenerative arthropathy characterized by heightened blood flow, increased calcium dissolution, and repeated minor trauma to insensate joints. Directly and comprehensively addressing the pathogenesis of DFUs could pave the way for the development of innovative treatment approaches with the potential to avoid the most serious complications, including major amputations.

• Journal of Plant Biotechnology
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• 제50권
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• pp.225-231
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• 2023

Cold stress is one of the most vulnerable environmental stresses that affect plant growth and crop yields. With the recent advancements in genetic approaches using Arabidopsis and other model systems, genes involved in cold-stress response have been identified and the key cold signaling factors have been characterized. Exposure to low-temperature stress triggers the activation of a set of genes known as cold regulatory (COR) genes. This activation process plays a crucial role in enhancing the resistance of plants to cold and freezing stress. The inducer of the C-repeatbinding factor (CBF) expression 1-CBF module (ICE1-CBF module) is a key cold signaling pathway regulator that enhances the expression of downstream COR genes; however, this signaling module in Panax ginseng remains elusive. Here, we identified cold-signaling-related genes, PgCBF1, PgCBF3, and PgICE1 and conducted functional genomic analysis with a heterologous system. We confirmed that the overexpression of cold- PgCBF3 in the cbf1/2/3 triple Arabidopsis mutant compensated for the cold stress-induced deficiency of COR15A and salt-stress tolerance. In addition, nuclearlocalized PgICE1 has evolutionarily conserved phosphorylation sites that are modulated by brassinsteroid insensitive 2 (PgBIN2) and sucrose non-fermenting 1 (SNF1)-related protein kinase 3 (PgSnRK3), with which it physically interacted in a yeast two-hybrid assay. Overall, our data reveal that the regulators identified in our study, PgICE1 and PgCBFs, are evolutionarily conserved in the P. ginseng genome and are functionally involved in cold and abiotic stress responses.

• 대한유전성대사질환학회지
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• 제17권1호
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 (CPS1) 결핍은 요소회로 이상 질환 중 하나로 상염색체 열성으로 유전되며 2q35 염색체에 존재하는 CPS1 유전자 변이로 발생된다. CPS1의 완전한 결핍을 가진 경우 신생아 시기에 빠르게 진행하는 고암모니아혈증으로 발현한다. 신생아 시기의 심한 고암모니아혈증은 즉각적인 치료를 받지 않을 시 심각한 뇌 손상, 혼수, 사망에 이르기에 진단 시 응급 투석과 체계적인 집중 치료가 필요하다. 본 증례는 생후 4일 째 신생아실에서 발열, 경련, 고암모니아혈증이 확인되어 생화학적, 분자유전학적 방법으로 두 개의 새로운 변이 c.1117G>C (p.Ala373 Pro)와 c.1883G>T (p.Gly628Val)가 이형접합체로 발견되고 CPS1 결핍이 진단된 신생아에서 응급 투석 및 집중치료와 함께 궁극적인 치료인 간이식 전 간세포이식술을 생후 1개월에 시행하여 반복적인 고암모니아혈증 발생을 막고 불가역적인 신경손상을 예방하여 현재 생후 6개월까지 단기간 경과관찰 결과 성장과 발달 및 신경학적 예후가 좋음을 보고하는 바이다.

• Journal of Nutrition and Health
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• 제35권2호
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• pp.223-228
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• 2002

The purpose of this study was to investigate the relationship between iron deficiency without anemia and physical performance in healthy women aged 20-21 yrs. Ten subjects with normal iron stores (serum ferritin $\geq$ 12$\mu\textrm{g}$/L: iron-sufficient group) and 11 subjects with iron depletion without anemia (serum ferritin < 12 $\mu\textrm{g}$/L and serum hemoglobin > 120 g/L: iron-depleted group) were chosen from a group of 50 women and were given physical-performance tests, including determinations of maximum oxygen consumption (VO$_2$ max) and ventilatory threshold. Iron status assessment included determination of hemoglobin, hematocrit, seam ferritin, total iron-binding rapacity, serum iron and transferrin saturation values. Dietary iron intake was assessed based on seven-day food intake records written by the subjects. Physical activity level was estimated by frequency questionnaires and two-week physical activity records were compiled daily by the subjects. Blood ferritin concentration was significantly lower in the iron-depleted group than in the iron-sufficient group (p < 0.05). However, other variables showing iron status was not different between the groups. There were no significant differences in body size, body composition and physical activity levels between the groups. Daily dietary iron, total protein and animal protein intakes of the iron-sufficient group were significantly higher than those of the iron depleted group. However, no differences were found in the amount of dietary vitamin C and fiber between the groups. The values for VO$_2$max and VO$_2$max corrected with weight or fat-free mass were not different between the groups. However, the ventilatory threshold was significantly higher in the iron sufficient group than in the iron-depleted group. The lower ventilatory threshold in the iron-depleted group suggests that iron depletion without anemia could diminish aerobic physical performance in young women. In addition, a significant correlation of physical performance to serum fferritin level was shown only in the iron depleted group.