• Journal of Genetic Medicine
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• v.5 no.1
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• pp.26-33
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• 2008

Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.105-110
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• 2008

Purpose: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for preeclampsia, and ICAM-1 plasma levels and/or function is genetically influenced. Therefore, we evaluated the distribution of ICAM-1 gene K469E polymorphism in pregnant Korean women with preeclampsia and evaluated the association between this polymorphism and preeclampsia. Methods: The K469E polymorphism was analyzed in peripheral blood samples from 197 preeclamptic pregnancies and 193 normotensive pregnancies by a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypic and allelic frequencies of ICAM-1 gene polymorphism (K469E) did not differ between preeclamptic and normotensive pregnancies. The distributions of the KK, KE, and EE genotypes were 40.6%, 43.7%, and 15.7%, respectively, in preeclamptic pregnancies and 38.9%, 45.1%, and 16.1%, respectively, in normotensive pregnancies. The frequencies of K and E alleles were 0.62 and 0.38, respectively, in preeclamptic pregnancies and 0.61 and 0.39, respectively, in normotensive pregnancies. By multiple logistic regression analysis, there was no increased risk of preeclampsia in subjects with ICAM-1 KE (OR, 1.08; P=0.74) or EE (OR, 1.07; P=0.88) genotypes. Conclusion: This study suggests that the ICAM-1 gene K469E polymorphism does not associate with an increased risk of preeclampsia in pregnant Korean women.

• Clinical and Experimental Pediatrics
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• v.49 no.8
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• pp.889-894
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• 2006

Purpose : Asthma is characterized by the presence of airway hyperresponsiveness(AHR) and inflammation. The extensive eosinophil infiltration into the lung is the hallmark of asthma and contributes to the damage of respiratory epithelium during late phase airway responses. Eotaxin is the major eosinophil chemoattractant found in bronchoalveolar lavage(BAL) fluid of allergic inflammation. IL-13 has been known to induce the expression of exotaxin and eosinophilia. IL-13 also induces airway inflammation, mucus production and leads to marked fibrosis, airway remodeling and AHR. We investigated whether serum IL-13 levels can reflect the presence of airway hyperresponsiveness in children with asthma, and the relationship between serum IL-13 and eotaxin levels. Methods : Using sandwich enzyme-linked immunosorbent assay, the serum IL-13 and eotaxin levels were measured in 13 atopic asthmatics, 5 atopic non-asthmatics and 12 control subjects. Metacholine challenge tests were performed in all subjects. Airway hyperresponsiveness to metacholine was expressed as provocative concentration of metacholine causing a 20% fall in FEV1[$PC_{20}mg/mL$]. $PC_{20}$ value of 25 mg/mL was used as a cut-off for defining a AHR. Results : Serum IL-13 levels showed positive correlation with eotaxin levels. Serum IL-13 and eotaxin levels showed no differences among atopic asthmatics, atopic non-asthmatics and control subjects. And there were no differences serum IL-13 and eotaxin levels in children with and without AHR and atopy. Serum IL-13 and eotaxin levels did not correlate with $logPC_{20}$ levels. Conclusion : IL-13 is closely related to the eotaxin release. But serum IL-13 and eotaxin per se can't predict the severity of airway hyperresponsiveness. IL-13 and eotaxin may have local effect on respiratory epithelium or there can be some factors to induce airway hyperresponsiveness other than serum IL-13 in asthmatic airways.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1065-1074
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• 2002

Purpose : The purpose of this study is to analyze the epidemiologic characteristics of sudden unexpected death in infancy and to evaluate the importance of postmortem autopsy. Methods : We reviewed, retrospectively, medical records of 34 infants admitted to Kangnam General Hospital from January 1987 to December 2001 because of sudden unexpected death. We investigated the cause of death through medical history, death scene examination, autopsy findings, acylcarnitine and organic acid analysis. Results : Among the total 34 infants, 18 were male(52.9%) and 16 were female(47.1%). Thirty infants(88%) were below the six months of age. Winter was the most affected season(38.2%). Eighteen infants(52.9%) died between 6 and 12AM. The prone sleeping position was observed more frequently than the supine position at death; nine cases in the prone position, six cases in the supine position. The cause of death of 23 cases could not be found by only history and death scene examination. Autopsy was done in 13 cases. Seven cases of them were thought to be SIDS. In six cases, we explained the cause of death with autosy findings. They were an endocardial fibroelastosis, a nesidioblastosis, a subdural hematoma, a bronchopneumonia and two fatty changes of liver. Metabolic screening tests performed in three cases to rule out metabolic disorder since 2000 were all normal. Conclusion : We concluded that autopsy and metabolic screening test should be performed to find out the cause of death in sudden unexpected death in infancy.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.75-80
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• 2009

Purpose : In adults, valproate (VPA) has been reported to be associated with thrombocytopenia. However, few studies have investigated this association in children, and the factors affecting platelet counts remain controversial. This study was undertaken to investigate changes in platelet counts following VPA therapy and related factors in children with epilepsy. Methods : Our subjects comprised 75 epileptic children who had received VPA monotherapy for at least 1 year between January 2000 and December 2005. We regularly examined platelet counts at intervals of 6 to 12 months after baseline platelet counts before VPA treatment. We analyzed changes in platelet counts according to several factors such as sex, seizure type, underlying causes of epilepsy, age at the start of medication as well as at the last follow up, duration of VPA administration, VPA dose, serum VPA level, and body weight at the last follow up. Results : Overall, the platelet counts decreased significantly after VPA therapy. The average baseline platelet count was $312.5{\pm}109.1{\times}10^6/mL$. At the last follow up, the average platelet count was $261.7{\pm}72.2{\times}10^6/mL$. We observed the relationship between platelet counts and serum levels of VPA; while children with serum VPA <$75{\mu}g/mL$ showed no change in platelet counts (P=0.102), children with serum VPA >$75{\mu}g/mL$ showed a significant decrease in platelet counts. Conclusion : VPA may cause a significantly decreased platelet count in children with epilepsy. High serum VPA levels were associated with development of thrombocytopenia.

• Clinical and Experimental Pediatrics
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• v.50 no.5
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• pp.449-456
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• 2007

Purpose : Antibody persistence after primary series of Haemophilus influenzae type b (Hib) vaccine and responses to a boosters are little known in Korean children. We performed this study to evaluate the antibody titer in relation with a booster immunization of Hib vaccine in Korean children. Methods : One hundred forty-four children aged 12-23 months old were enrolled in three university hospitals. The immunogenicity of a boosters with Hib vaccine was assessed in children previously primed with Hib vaccine. Antibody persistence was also assessed in children who had received 3 doses of Hib vaccine without a booster. Anti-polyribosylribitol phosphate (PRP) IgG antibody levels and bactericidal titers were determined by enzyme immunoassay and bactericidal assay at the Center for Vaccine Evaluation and Study, Medical Research Institute, Ewha Womans University. Results : Prior to a booster in the second year of life, geometric mean antibody concentrations were $2.39{\mu}g/mL$ and the percent of subjects who had a anti-PRP antibody level ${\geq}1{\mu}g/mL$ was 68.6%. After boosting, antibody concentration was $19.09{\mu}g/mL$ and the percent of subjects who had a anti-PRP antibody level ${\geq}1{\mu}g/mL$ was 96.5%, which reflects previous immune priming. In subjects who had finished primary immunization only, the bactericidal titer was 3,946 and in subjects who had a booster, it was 11,205. Anti-PRP antibody level was correlated with serum bactericidal titer. Conclusion : Many children aged 12-23 month old still had protective antibodies after recommended primary immunization only. A booster dose seemed to induce good anamnestic antibody responses in Korean children.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.56-61
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• 2009

Purpose: Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be placentally expressed and subject to imprinting with preferential transmission of the maternal allele. The purpose of this study is to investigate whether there is an association between the STOX1 Y153H variation and preeclampsia in Korean pregnant women. Materials and Methods: This study involved 202 preeclamptic and 204 healthy pregnant women who were genotyped for the Y153H variant of the STOX1 gene using a commercially available SNapShot assay kit and an ABI Prism 3730 DNA Analyzer. Results: There were no significant differences in genotype frequencies of the Y153H variant of the STOX1 gene between preeclamptic patients and normal controls (P>0.05). The H allele frequency of the STOX1 Y153H variation was similar in patients with preeclampsia (87.1%) and in normal controls (86.5%). In addition, multiple logistic regression analysis showed that the YH, HH, and YH/HH genotypes were not associated with an increased risk of preeclampsia when compared to the YY genotype. Conclusion: This is the first study to characterize the Y153H variant of the STOX1 gene in Korean patients with preeclampsia. We found no differences in the genotype and allele frequencies between preeclamptic and normal pregnancies. Although limited by a relatively small sample size, our study suggests that the STOX1 Y153H variation is not associated with the development of preeclampsia in Korean pregnant women.

• Journal of Life Science
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• v.18 no.11
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• pp.1521-1531
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• 2008

After pigs was fed by commercial diets supplemented with various concentrations (0, 0.5, 1, and 1.5%) of the fermented mushroom by-product of Pleurotus eryngii, the meat qualities and the serum lipid compositions of the individual pig groups were investigated. The levels of total lipid, total cholesterol, and triglyceride in the serum were significantly lower when the pigs were fed with the diet supplemented with 1.5% fermented mushroom by-product than those of the control pigs. HDL-, LDL-, and VLDL-cholesterol contents in the serum exhibited no significant difference between the pig group fed by the diet containing the fermented mushroom by-product and the control group. In comparison to the control group, the pig group fed by the diet supplemented with 1.5% fermented mushroom by-product showed significantly lower level of AI, CRF, GOT, and LDH values in the serum, whereas the difference in the level of antioxidant activity of the serum was not significant. Sensory evaluation regarding color, off-flavor, tenderness, juiciness, and overall acceptability also showed that the pork from the pig group fed by the diet supplemented with the fermented mushroom by-product ($0.5{\sim}1.5%$) was better than that from the control group. Although enhancement in the lghtness ($a^*$) value of the pork was significant in 20 days of storage at $4^{\circ}C$, the redness ($L^*$) value was not significantly differential during the storage periods regardless of the supplementation of the fermented mushroom by-product into the diet. The cooking loss of the pork from the pig group fed by the diet supplemented with the fermented mushroom by-product (1% and 1.5%) decreased in the storage 10 days, but it increased in the storage 20 days. After storage for 20 days at $4^{\circ}C$, shear force of the pork obtained from the pigs fed by the diet supplemented with $1%{\sim}1.5%$ fermented mushroom by-product appeared to become significantly lower than that of the control. There were, however, no significant changes between two groups in the level of moisture content, crude lipid, and pH during the storage period. Although the TBARS content was enhanced in all groups during the storage period, the enhancement appeared to be more significant in the pork from the pig group fed by the diet containing the fermented mushroom by-product in comparison to the control. On the other hand, the ratio of UFA/SFA for the pork obtained from the individual pig groups showed no considerable diet-associated alterations during the storage period.

• The Korean Journal of Food And Nutrition
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• v.29 no.6
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• pp.998-1007
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• 2016

The objective of this study was to investigate the effects of a lettuce (Lactuca sativa L.) extract on the inflammation of human umbilical vein endothelial cell (HUVEC) and blood lipid improvement in hypercholesterolemic mice fed a high cholesterol diet. The lettuce extract (100% ethanol extract) inhibited the expression of intercellular adhesion molecule-1 and vascular cell adhesion molecule-1 in HUVEC treated with tumor necrosis factor-${\alpha}$ (TNF-${\alpha}$). The lettuce extract suppressed the adhesion of THP-1 to TNF-${\alpha}$-treated HUVEC. The lettuce extract decreased the TNF-${\alpha}$-stimulated production of proinflammatory cytokine interleukin-6, interleukin-8 and chemokine monocyte chemotactic protein 1. In hypercholesterolemic mice, the lettuce extract reduced serum total cholesterol, triglyceride, and low-density lipoprotein-cholesterol level, while the lettuce extract elevated high-density lipoprotein-cholesterol level, resulting in the decrease of atherogenic index and cardiac risk factor level. These results suggested that lettuce extract can be an useful resource to show an anti-inflammatory effect and improve lipid metabolism.

• Journal of Yeungnam Medical Science
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• v.16 no.2
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• pp.347-356
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• 1999

Background: Exit site/tunnel infection causes considerable morbidity and technique failure in CAPD patients. We presently use a unique revision method for the treatment of refractory ESI/TI in CAPD patients and mupirocin prophylaxis for high risk patients. Materials and Methods: We reviewed 139 CAPD patients about the ESI/TI from October 1993 to February 1999 at Yeungnam University Hospital. At the beginning of the ESI. we usually started medications with rifampicin and ciprofloxacin and then changed the antibiotics according to the sensitivity test. If the ESI had persisted and there were TI symptoms (purulent discharge, abscess lesion around exit site). we performed catheter revision(external cuff shaving, disinfection around tunnel and new exit site on opposit direction) with a combination of proper antibiotics. We applied local mupirocin ointment at the exit site three times per week to the 34 patients who had the risk of ESI starting from October 1998. Results: The total follow-up was 2401 patient months(pt. mon). ESI occurred on 105 occasions in 36 out of 139 patients, and peritonitis occurred on 112 occasions in 67 out of 139 patients. The total number of incidences of ESI and peritonitis was 1 per 23.0 pt. mon and 1 per 2l.6 pt.mon. The most common organism responsible for ESI was Staphylococcus aureus (26 of 54 isolated cases, 48%), followed by the Methicillin resistant S. aureus(MRSA) (13 cases, 24%). Seven patients(5: MRSA. 2: Pseudomonas) had to be treated with a revision to control infection. Three patients experienced ESI relapse after revision. One of them improved with antibiotics, while another needed a second revision and the remaining required catheter removal due to persistent MRSA infection with re-insertion at the same time. But, there was no more ESI in these 3 patients who were received management to relapse (The mean duration: 14.0 months). The rates of ESI were significantly reduced after using mupirocin than before(1 per 12.7 vs 34.0 pt.mon, P<0.01). Conclusions: In summary, revision technique can be regarded as an effective method for refractory ESI/TI before catheter removal. Also local mupirocin ointment can play a significant role in the prevention of ESI.