• Clinical Nutrition Research
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• v.11 no.4
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• pp.316-330
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• 2022

Iron plays a role in energy metabolism as a component of vital enzymes and electron transport chains (ETCs) for adenosine triphosphate (ATP) synthesis. The tricarboxylic acid (TCA) cycle and oxidative phosphorylation are crucial in generating ATP in mitochondria. At the mitochondria matrix, heme and iron-sulfur clusters are synthesized. Iron-sulfur cluster is a part of the aconitase in the TCA cycle and a functional or structural component of electron transfer proteins. Heme is the prosthetic group for cytochrome c, a principal component of the respiratory ETC. Regarding fat metabolism, iron regulates mitochondrial fat oxidation and affects the thermogenesis of brown adipose tissue (BAT). Thermogenesis is a process that increases energy expenditure, and BAT is a tissue that generates heat via mitochondrial fuel oxidation. Iron deficiency may impair mitochondrial fuel oxidation by inhibiting iron-containing molecules, leading to decreased energy expenditure. Although it is expected that impaired mitochondrial fuel oxidation may be restored by iron supplementation, its underlying mechanisms have not been clearly identified. Therefore, this review summarizes the current evidence on how iron regulates energy metabolism considering the TCA cycle, oxidative phosphorylation, and thermogenesis. Additionally, we relate iron-mediated metabolic regulation to obesity and obesity-related complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.227-233
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• 2009

Purpose : Growth hormone (GH) replacement after retesting is necessary because impairment of body composition and cardiovascular health has been more severe in adult patients with persistent GH deficiency (GHD) from childhood to adulthood. This study aimed to investigate the factors for persistent GHD and define a highly probable group of persistent GHD in young adults with childhood-onset GHD. Methods : GHD was reassessed by insulin tolerance test (ITT) in 55 adult patients (39 males, 16 females) with childhood-onset GHD. Twelve patients presented with idiopathic GHD and 43 patients presented with organic GHD caused by tumors involving the hypothalamus-pituitary (H-P) region (n=33), other brain tumors (n=3), meningitis (n=3), leukemia (n=2) and others (n=2). Results : Forty-nine (89.1%) of 55 patients had persistent GHD. IGF-I was positively correlated with log of peak GH (r=0.57, P<0.001). There was no difference in the proportion of persistent GHD between idiopathic and organic GHD. The percentage of patients with persistent GHD was 40%, 80%, and 95.6% for patients with zero, one, two or more additional pituitary hormone deficiencies (PHDs), respectively (P=0.002). The probability of persistent GHD was higher in patients with diseases involving the H-P region (P=0.003). GHD persisted in 15 of 18 patients treated with cranial irradiation. Conclusion : We suggest that the probability of persistent GHD in adulthood was high in patients with 2 or more additional PHDs, and diseases involving the H-P region.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.13 no.1
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• pp.23-29
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• 2010

Purpose: The aim of this study was to assess the benefits of routine pre-endoscopy coagulation screening tests and platelet counts in Korean children. Methods: Between March 2004 and December 2009, children who underwent gastrointestinal endoscopy for the evaluation of various gastrointestinal symptoms were included. All of the subjects included in the study also underwent routine coagulation screening and platelet count determinations prior to endoscopy and biopsy. The clinical records and laboratory tests were retrospectively reviewed in all patients. Results: One hundred sixty-two of 1,476 (11%) patients who underwent endoscopy had abnormal results on pre-screening coagulation tests. Fourteen patients underwent coagulation factor assays due to abnormal clotting results in consecutive tests or due to clinical evidence of a bleeding tendency. Seven patients were diagnosed with factor XII deficiency, one patient was diagnosed with von Willebrand disease, one patient had von Willebrand disease and factor XII deficiency, and one patient was presumed to have mild hemophilia. The remaining 4 patients had normal results with the factor assays. The results of platelet counts were normal with the exception of 1 patient. No patient had significant bleeding during the endoscopic procedures, despite abnormal pre-endoscopic coagulation tests. Conclusion: Routine coagulation screening tests and platelet counts revealed abnormal results in some patients. Most of the patients with abnormal clotting were shown to have a factor XII deficiency, which had no significant associated bleeding tendencies; the other patients were diagnosed with hemophilia or von Willebrand disease. Therefore, although abnormal pre-endoscopic coagulation is not always related to significant bleeding complications, pre-endoscopic coagulation screening may be useful in some children in predicting the risk of bleeding tendency during endoscopic procedures.

• Journal of Nutrition and Health
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• v.9 no.4
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• pp.19-27
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• 1976

Perilla (frutescens) seed oil, which is widely used as a source of vegetable oil in Korea, contains a strikingly large amount (58.4% of total fatty acids) of polyunsaturated linolenic acid (18 : 3) which is one of the essential fatty acids. Our hypothesis was that vitamin E contained in this oil would not be enough to prevent peroxidation of this polyunsaturated oil. A comparative study was carried out using rats and chicks devided into seven groups with various diet combinations emphasizing fat sources for the period of four weeks. The level of fat in each diet was 15% and animals were fed ad libitum. Various diet combinations were as follows; perilla seed oil and sesame seed oil with and without vitamin E supplementation, tallow as a saturated fat source and perilla seed hull group (10% at the expense of carbohydrate). The fat constituents of control group were consisted of 50% vegetable oil and 50% animal fat. A few important findings are as follows: 1. Rats fed perilla seed oil lost their hair focally around the neck and suffered from a bad skin lesion at the same place. In chicks, yellow pigmentation both of feather and of skin was clearly observed only in groups fed perilla seed oil with or without vitamin E supplementation. The basis of biochemical mechanisms of this phenomena remains as an important research interest. 2. The mean value for hematocrit was significantly lower for the chicks fed perilla seed oil than for those fed control diet. This result seems to be attributable to the effect on the red cell membrane known as peroxidation-hemolysis of vitamin E deficiency. 3. The serum cholesterol level was higher for the rats fed perilla seed oil than for those fed control diet, whereas in chicks the group fed perilla seed oil showed lower value than the control group indicating that different animal species could vary in their responses to the same diet. 4. In pathological examinations, the sign of hepatic fibrosis was seen in the perilla seed hull group and it was noticeable that the level of hepatic RNA was significantly increased in the rat recovering from vitamin E deficiency. It is hoped that more detailed studies on perilla seed oil and hulls will soon be carried out in many aspects especially i) at various levels of fat in the diet, ii) in relation to dietary selenium level and iii) to find an optimum level of dietary essential fatty acids in terms of P/S ratio using various animal species. In the mean time, the public should be informed to preserve this particular oil with care to minimize fatty acid oxidation and should be discouraged from overconsuming this oil. This study was supported by UB (United Board) Research Grant (Graduate School, Yonsei University, Seoul, Korea)

• Journal of Nutrition and Health
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• v.45 no.1
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• pp.20-29
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• 2012

Metabolic syndrome (MetS) has become a global epidemic. In particular, it is known that there is a dramatic increase in the prevalence of MetS among women during the postmenopausal period. Recently, accumulating studies have suggested that vitamin D deficiency may be inversely associated with the risk factors regarding MetS. However, evidence from postmenopausal women is limited. In this study, we examined the association between the serum 25-hydroxyvitamin D [25(OH)D] and the MetS in Korean adult women aged 20-69 years (n = 2,618) by using the 2007-2008 Korean National Health and Nutrition Examination Survey data. The geometric mean of plasma 25(OH)D were $17.16{\pm}6.28\;ng$/mL and $20.20{\pm}7.69\;ng$/mL for premenopausal and postmenopausal women, respectively. The percentages of vitamin D deficiency [25(OH)D < 12 ng/mL] were 22.5% and 14.4%, respectively. MetS was more prevalent in postmenopausal women (43.0%) compared with premenopausal women (11.2%). When serum concentrations of 25(OH)D were categorized in quintiles, there was no relationship in the prevalence of MetS in both premonopausal and postmenopausal women. However, in premenopausal women, compared with the lowest 25(OH)D quintile, the odds ratio for hypertriglyceridemia in the highest quintile was 0.57 (95% CI 0.34-0.95, $P_{trend}$ = 0.041) and for low serum HDL cholesterol 0.60 (95% CI 0.42-0.85, $P_{trend}$ = 0.014) after adjusting for all potential confounders. On the other hand, we observed the tendency of an inverse relationship for 25(OH)D regarding low serum HDL cholesterol (OR 0.78, 95% CI 0.50-1.22, $P_{trend}$ = 0.029) and a direct relationship with abdominal obesity (OR 1.94, 95% CI 1.01, 3.74, $P_{trend}$ = 0.049) in postmenopausal women. Further studies are needed to confirm these findings in other research settings.

• Journal of Physiology & Pathology in Korean Medicine
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• v.29 no.5
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• pp.378-385
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• 2015

Dizziness is one of the most common symptoms in clinical practice. The purpose of this study was to investigate the characteristics of patients with dizziness who visited Korean medicine hospital. This study analyzed 328 patients with dizziness who visited Dunsan Korean Medicine Hospital of Dae-Jeon University from Nov. 1st, 2012 to Oct. 31st, 2014. We gathered the data of the patients based on the medical charts. The patients were divided into 4 gorups ; central dizziness group, peripheral dizziness group, presyncope dizziness group, functional dizziness group, In the distribution according to sex, the number of female patients was higher than the male patients in all the types of dizziness except the presyncope group. The average age of the central group was higher than any other types. The peripheral and central group were most frequently admitted. The average hospitalization period were categorized as follows : central group 37.31, presyncope group 17, functional group 14.21, peripheral group 13.5 days. The following numbers of patients showed the distribution of each syndrome differentiation ; deficiency of qi and blood(氣血兩虛) 58.8%, plegm-dampness syndrome(濕痰中阻) 18.0%, hyperactivity of liver yang(肝陽上亢) 14.3%, deficiency of kidney essence(腎精不足) 8.8%. The distribution of herbal medicine for dizziness were categorized as follows ; Jaeumkeonbi-tang(Ziyinjianpi-tang, 滋陰健脾湯) 50.4%, Banhabaekchulcheonma-tang(Banxiabaishutianma-tang, 半夏白朮天麻湯) 10.2% and Bojungikgi-tang(Buzhongyiqi-tang, 補中益氣湯) 4.1%. The 86.0% of patients with dizziness has improved. The peripheral showed highest rate of improvement(100%). This report would serve as a reference data for further study about patients with dizziness in the clinical field of Korean medicine.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.58-63
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• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Korean Journal of Community Nutrition
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• v.19 no.2
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• pp.122-132
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• 2014

Objectives: This study was conducted to investigate the vitamin D status and to determine the association between serum 25-hydroxyvitamin D [25(OH)D] concentrations and consumption frequencies of vitamin D rich foods in Korean adults and older adults. Methods: Subjects were 10,374 adults and 2,792 older adults participating in the 2008-2009 Korea National Health and Nutrition Examination Survey (KNHANES). Consumption frequencies of vitamin D rich foods were estimated by using a qualitative food frequency questionnaire (FFQ). Eleven food items such as beef, egg, mackerel, tuna, yellow corvina, pollack, anchovy, mushroom, milk, yogurt, and ice cream were selected as vitamin D rich foods based on previous research. Results: The proportions of deficiency (< 12 ng/mL), inadequacy (12-20 ng/mL) and sufficiency (${\geq}20ng/mL$) of serum 25(OH)D concentrations from June to November and December to May in adults were 8.8%, 42.3%, 48.8%, and 28.2%, 52.8%, 19.1%, respectively. The proportions of deficiency, inadequacy and sufficiency of serum 25(OH)D concentrations from June to November and December to May in older adults were 10.1%, 32.4%, 57.5%, and 24.1%, 45.4%, 30.5%, respectively. The mean serum 25(OH)D concentrations in adults were positively related to the consumption frequencies of mackerel, anchovy, all fish, milk and milk dairy products. The mean serum 25(OH)D concentrations in older adults were positively related to the consumption frequencies of yellow corvina and negatively related to the consumption frequencies of ice cream. Conclusions: Our results suggest that Korean adults were more deficient in serum 25(OH)D concentrations than older adults. The consumption of vitamin D rich foods may affect vitamin D status in Korean adults. Further studies are required to confirm these findings.

• Herbal Formula Science
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• v.19 no.1
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• pp.51-58
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• 2011

Objectives : This study was performed to investigate applications of 171 prescriptions including Astragali Radix and Angelicae gigantis Radix in Dongeuibogam. Methods : 171 prescriptions including Astragali Radix and Angelicae gigantis Radix which have been used separately or concurrently in Oriental Medicine for a long time as a treatment for various disease in Dongeuibogam were studied through order of frequency, symptoms, dosages, etc. Results : 1. 27 times(15.79%) prescriptions are recorded in intumescence chapter, 21 times(12.28%) in fatigue chapter, 11 times(6.43%) in women chapter and 9 times(5.26%) in anus chapter, which are arranged in order of frequency. 2. Yin-yang deficiency treat herbs are ranked top, eliminating intumescence methods, bloody stool, discharging blood from one's vagina, yang deficiency treat herbs are ranked in order of frequency among 107 symptoms in prescriptions including Astragali Radix and Angelicae gigantis Radix. 3. The dosages of Astragali Radix which is more used than Angelicae gigantis Radix are ranged from 3 puns:1 pun ~ 2 nyangs:1.5 nyangs. 1 jeon:5 puns is recorded 8 times(14.29%), 2 jeon:1 jeon is 7 times(12.50%), 1 jeon:3 puns and 1 jeon:7 puns are 24 times(11.2%), 1 nyang is 21 times(9.8%), same amount is 11 times(5.1%), 5 pun is 4 times(7.14%) each, 1.5 jeon:5 puns is 3 times(5.36%) used among 56 prescriptions including Astragali Radix and Angelicae gigantis Radix. 4. The dosages of Astragali Radix which is used same amount Angelicae gigantis Radix are ranged from 2.5 puns each ~ 2 nyangs each, 2.5 chons, same amount each. 1 jeon each is recorded 36 times(38.71%), 1 nyang each is 15 times(16.13%), 0.7 jeon each is recorded 12 times(12.90%), 0.5 jeon each is recorded 6 times(6.45%) used among 93 prescriptions including Astragali Radix and Angelicae gigantis Radix. 5. The dosages of Astragali Radix which is less used than Angelicae gigantis Radix are ranged from 3 puns:7 pun ~ 5 nyangs:12 nyangs. 1 jeon:1.5 jeons is recorded 3 times(13.64%), 0.8 jeon:1 jeon and 1 nyang:2 nyangs are 2 times(9.09%) each, the others are 1 time(4.55%) used among 22 prescriptions including Astragali Radix and Angelicae gigantis Radix. 6. The dosages of (Astragali Radix $\gg$ Angelicae gigantis Radix), (Astragali Radix = Angelicae gigantis Radix) and (Astragali Radix $\ll$ Angelicae gigantis Radix) which are recorded by counts (decoction groups: the other groups) are 52:4(92.86%:7.14%), 70:23(75.27%:24.73%), 13:9 (59.09%:40.91%) respectively. 7. The less using dosage of Astragali Radix and Angelicae gigantis Radix has a more percentage of decoctions groups, The more using dosage of Astragali Radix and Angelicae gigantis Radix has a more percentage of the other groups except decoctions. The less using prescriptions have an effects of controling yin and yang, enhancing blood and chi, etc, as a whole. The more using prescriptions as a form of compound powder have an effects in incurableness disease, chronic diseases, etc. Conclusions : The 171 prescriptions including Astragali Radix and Angelicae gigantis Radix in Dongeuibogam are mainly composed of Dangguibohyul-tang, Samool-tang, Sagoonja-tang and Gobangpoong-tang, Gamri-hwan, etc.