• Journal of Genetic Medicine
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• v.4 no.1
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• pp.38-44
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• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.64-71
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• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.45-52
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• 2007

Purpose : A simple, rapid, and highly sensitive analytical method for Gb3 in plasma was developed without labor-ex tensive pre-treatment by electrospray ionization MS/ MS (ESI-MS/MS). Measurement of globotriaosy lceramide (Gb3, ceramide trihex oside) in plasma has clinical importance for monitoring after enzyme replacement therapy in Fabry disease patients. The disease is an X-linked lipid storage disorder that results from a deficiency of the enzyme ${\alpha}$-galactosidase A (${\alpha}$-Gal A). The lack of ${\alpha}$-Gal A causes an intracellular accumulation of glycosphingolipids, mainly Gb3. Methods : Only simple 50-fold dilution of plasma is necessary for the extraction and isolation of Gb3 in plasma. Gb3 in diluted plasma was dissolved in dioxane containing C17:0 Gb3 as an internal standard. After centrifugation it was directly injected and analyzed through guard column by in combination with multiple reaction monitoring mode of ESI-MS/MS. Results : Eight isoforms of Gb3 were completely resolved from plasma matrix. C16:0 Gb3 occupied 50% of total Gb3 as a major component in plasma. Linear relationship for Gb3 isoforms w as found in the range of 0.001-1.0 ${\mu}g$/mL. The limit of detection (S/N=3) was 0.001 ${\mu}g$/mL and limit of quantification was 0.01 ${\mu}g$/mL for C16:0 Gb3 with acceptable precision and accuracy. Correlation coefficient of calibration curves for 8 Gb3 isoforms ranged from 0.9678 to 0.9982. Conclusion : This quantitative method developed could be useful for rapid and sensitive 1st line Fabry disease screening, monitoring and/or diagnostic tool for Fabry disease.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

• The Journal of Korean Medical History
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• v.25 no.2
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• pp.121-136
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• 2012

The purpose of this paper is to derive the features of cold damage clinical medicine during the early days of the Chosun(朝鮮) period by analyzing discussions on cold damage published in the official medical book of the Chosun period, Compendium of Prescription from the Countryside(鄕藥集成方, CPC). Cold damage was one of the typical diseases in East Asia where there was constant seeking of the utilization of prescriptions, ways of preparations, and awareness regarding cold damage as shown in Zhang, Zhongjing(張仲景)'s Treatise on Cold Damage Disease(傷寒論, TCDD) below. Traditional Korean medicine which possessed the medical universality of East Asia also was no exception and through an analysis of the part on cold damage in CPC, it is expected that medical features of cold damage in Korea passed down from the Koryo(高麗) Dynasty to the early Chosun period will be revealed. For this, first there needs to be an organization of past discussions on cold damage surrounding the existence of infection and after checking the issues, exploring which of the writings related to TCDD and editions are being utilized through an analysis on citing literature of Cold Damage Disease Literature(傷寒門) and Heat Pathogen Disease Literature(熱病門) which have developed discussions on cold damage in CPC. In addition, by comparing Peaceful Holy Benevolent Prescription(太平聖惠方, PHBP) and Complete Record of Sacred Benevolence(聖濟總錄, CRSB), known to have greatly influenced CPC and Cold Damage Literature and Heat Pathogen Disease Literature, features of form and content used by CPC were analyzed. Features of form were examined through pattern of organization and number of citing literature were examined and for features of content, cold damage infection, classification, syndrome differentiation method, and utilization of materia medica among prescriptions were examined. Discussions on cold damage as being uninfectious as stated in Treatise on the Pathogenesis and Manifestations of All Diseases(諸病源候論) unlike pestilence, epidemic pathogen(時氣), warm pathogen disease(溫病), and heat pathogen disease were excluded in PHBP. PHBP opened the possibility of cold damage infection and later writings, CRSB and CPC also follow this. As a result of analyzing citing literature of the part on cold damage in CPC, it is uncertain which edition of TCDD is being utilized; however, the most distinctive feature was that Classified Emergency Materia Medica(證類本草) and not writings specializing in cold damage are in use. In general, although CPC in terms of form is similar to CRSB, content creation predominantly depended on PHBP. More specifically; first, in terms of the existence of cold damage infection, arguments of PHBP and CRSB are maintained. Second, in terms of cold damage classification, although CRSB is followed, heat pathogen disease is classified separately developing PHBP as is. Third, in terms of method, as Book of Keep Healthy(南陽活人書) and CRSB compiled in later times are cited, it is deemed that arguments were raised to a certain extent regarding six-meridian syndrome differentiation(六經辨證). Fourth, although the majority of utilized materia medica among cold damage prescriptions utilize Materia Medica from the Countryside(鄕藥本草) in CPC and materia medica from Korean Peninsula, this is due to the desire for the compilation performance of CPC to be propagated to ordinary citizens and not the ruling class. CPC as the official medical book compiled in the early days of the Chosun period was greatly influenced by the Song(宋) Dynasty's medical books, PHBP and CRSB shows that cold damage medicine in the early Chosun Period indeed possesses the medical universality of East Asia. Furthermore, the features of published medical theory and prescriptions reveal the existence of the cold damage medical tradition of the Chosun period serving as clues for cold damage research tradition among Korea's medical history.

• Neonatal Medicine
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• v.15 no.1
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• pp.67-74
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• 2008

Purpose : The purpose of this study was to assess the natural history and perinatal outcomes of twin gestations according to chorionicity. Methods : We retrospectively reviewed the medical records of 99 monochorionic (MC) and 206 dichorionic (DC) twin gestations delivered at Il Sin Christian Hospital in Busan between January 2002 and December 2007. The incidences of twin-to-twin transfusion syndrome (TTS) and selective intrauterine growth restriction (sIUGR), as well as perinatal morbidity and mortality, were evaluated. Results : MC twins had a lower gestational age (35.7 vs. 36.6 weeks, P=0.03) at birth and a higher incidence of intrauterine fetal loss (10% vs. 1.5%, P<0.001) than DC twins. The incidence of intrauterine fetal loss was higher in MC sIUGR than in DC sIUGR (19% vs. 2.5%, P=0.025) twins. The number of admissions to the neonatal intensive care unit (NICU; 31% vs. 16%, P=0.042), and the incidence of periventricular leukomalacia (7% vs. 0%, P=0.031), and respiratory distress syndrome with surfactant treatment (27% vs. 11%, P=0.049) were higher in MC than DC twins. The incidences of sIUGR and TTS were 21 and 9% among the MC twins. The incidences of intrauterine fetal loss were higher in MC twins with TTS [6 of 9 (67%)] or sIUGR [4 of 21 (19%)] than uncomplicated MC twins (P<0.001). The frequency of admission to the NICU (P=0.001), the length of hospital stay (P=0.033), the prevalence of periventricular leukomalacia (P=0.011), and intraventricular hemorrhage (P=0.007) were also higher in MC with TTS or sIUGR than in uncomplicated MC twins. Conclusion : The incidence of neonatal complications was higher in MC twins, especially those gestations complicated by TTS or sIUGR.

• 한국해양학회지
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• v.30 no.2
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• pp.91-115
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• 1995

Air-sea heat fluxes in the East Sea were estimated from the various ship's data observed from 1961 to 1990 and the JMA buoy #6 data from 1976 to 1985. The oceanic heat transport in the sea was also determined from the fluxes above and the heat storage rate of the upper layer of 200m from the sea surface. In winter, The incoming solar radiation is almost balanced with the outgoing longwave radiation. but the sea loses her heat through the sea surface mainly due to the latent and sensible heat fluxes. The spatial variation of the net surface heat flux is about 100 Wm/SUP -2/, and the maximum loss of heat is occurred near the Tsugaru Strait. There are also lots of heat losses in the southern part of the East Sea, Korea Strait and Ulleung Basin. Particularly, the heat strong loss in the south-western part of the sea might be concerned with the formation of her Intermediate Homogeneous Water. In summer, the sea is heated up to about 120∼140 Wm/SUP -2/ sue to strong incoming solar radiation and weak turbulent heat fluxes and her spatial variation is only about 20 Wm/SUP -2/. The oceanic heat flux is positive in the southeasten part f the sea and the magnitude of the flux is larger than that of the net surface heat flux. This shows the importance of the area. In the southwestern part of the sea, however, the oceanic heat flux is negative. This fact implies cold water inflow, the North Korean Cold Water. The sigh of net surface heat flux is changed from negative to positive in March and from positive to negative in September. The heat content in the upper surface 200 m from the sea surface reaches its minimum in March and maximum in October. The annual variation of the net surface heat flux is 580 Wm/SUP -2/ in southwestern part of the sea. The annual mean values of net surface heat fluxes are negative, which mean the net heat transfer from the sea to the atmosphere. The magnitude of the flux is about 130 Wm/SUP -2/ near the Tsugaru Strait. The net surface fluxes in the Korea Strait and the Ulleung Basin are relatively larger than those of the rest areas. The spatial mean values of surface heat fluxes from 35$^{\circ}C$ to 39$^{\circ}$N are 129, -90, -58, and -32 Wm/SUP -2/ for the incoming solar radiation, latent hear flux, outgoing longwave radiation, and sensible heat flux, respectively.

• Journal of Animal Environmental Science
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• v.2 no.1
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• pp.41-52
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• 1996

This experiment was carried out to study the effect of sprinkler and fan cooling system on the physiological parameter, milk production and milk composition for Holstein cows in hot, humid climates. Thirty cows were assigned to one of two sections of open-sided loose barn. Water nozzles of sprinkler system were spaced in line at 1.2m intervals. Forced air was provided by 85cm diameter fans at rate of 3.4㎥/sec. The results obtained from these experiments are as follows: 1. There was no significant difference in meteorological data between control and fan + sprinkler cooling system(treatment group). 2. Skin temperature and rectal temperature of the treatment group were significantly lower than those of the control group (32.96 : 39.53$^{\circ}C$ vs 34.02 : 41.21$^{\circ}C$ respectively) (P<0.05). 3. Serum cortisol concentration of the treatment group(0.90$\mu\textrm{g}$/dL) was lower than that of control group(1.44$\mu\textrm{g}$/dL)(P<0.05). 4. Milk production of cows cooled with a sprinkler and fan cooling system was significantly higher than that of no cooling system (P<0.0l). 5. Lactose, protein and solid-not-fat content of milk were not changed by the treatments. Milk fat content of the control(3.23%) was low compared with the treatment group(3.38%). Somatic cell count was reduced by 26.63% in the treatment. The results indicate that a sprinkler and fan cooling systems can provide an effective means to relieve heat stress and enhance productivity of lactating Holstein cows during hot and humid summer season.

• Korean journal of food and cookery science
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• v.19 no.5
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• pp.603-608
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• 2003

In approximate composition, crude protein, lipid, ash, crude fiber, and N-free extract constituted 14.70%, 3.10%, 6.90%, 18.20%, and 57.10%, respectively, in Korean safflower flowers, compared to 12.60%, 2.70%, 5.80%, 16.40% and 62.50%, respectively, in Chinese safflower flowers. This indicated that Korean safflower flowers surpassed their Chinese counterparts except in terms of N-free extract. Free sugars such as fructose, glucose, and sucrose were proven to be dominant in both domestic and Chinese safflower flowers, while little xylose was contained. For content of polyphenolic compound, Korean safflower flowers contained 13.85% water soluble extract and 9.70% MeOH extract, compared to 9.39% and 7.04%, respectively, for the Chinese variety, confirming the higher levels in the Korean variety. For fatty acids, (Ed- the following results are not presented in ratio form) saturated fatty acids and unsaturated fatty acids comprised 6.80% and 93.20% in Korean safflower flowers and 16.0% and 84.0% in Chinese safflower flowers, respectively. Linoleic, oleic, and palmitoleic acids comprised 75.30%, 11.60%, and 3.40% in Korean safflower flowers, and 66.70%, 11.20%, and 6.10% in the Chinese variety, respectively. Of amino acids, essential amino acids comprised 46.67% in Korean safflower flowers and 36.79% in the Chinese variety. Moreover, total essential amino acids in Korean safflower flowers were higher than those of their counterparts. Non-essential amino acid comprised 65.17% in the Korean variety and 54.49% in the Chinese. In terms of mineral content, Korean safflower flowers contained more Ca, Cu, Fe and Mn than those of China, while Chinese safflower flowers contained more A1, Ba, Mg, K, Na, Zn, Sr and P.

• Food Science of Animal Resources
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• v.30 no.3
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• pp.495-503
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• 2010

Analyses were conducted to estimate the effect of quality grade on the carcass characteristics, physico-chemical and sensory traits of Longissimus dorsi in Hanwoo. A total of 42,113 carcasses were selected on the basis of five quality grades (grade $1^{++}$, $1^+$, 1, 2, and 3) and an additional 258 samples of Longissimus dorsi were used to evaluate the beef quality. The increase in quality grade from grade 3 to grade $1^{++}$ was significant (p<0.05) for carcass weight (from 338.7 kg to 387.2 kg), backfat thickness (from 7.45 mm to 12.23 mm) and marbling score (from 1.09 to 8.31). In contrast, significantly decreased levels of meat color, fat color, texture and maturity were apparent with increasing quality grade (p<0.05). Increasing quality grade was also correlated with significant increases (p<0.05) in crude fat contents (from 3.57% to 25.68%) and water holding capacity (from 52.41% to 58.03), and a decrease of the Warner-Bratzler shear force from 8.29 kg to 2.83 kg. The highest $L^*$ value (41.53) and highest cooking loss (22.11%) were observed with grade $1^{++}$ and 3 beef, respectively. There was no difference observed on $pH_{24}$ (5.53 to 5.66) among the quality grades, which were within the normal range. Sensory evaluation experiments revealed that quality grades were associated with significantly altered (all p<0.05) tenderness, juiciness, flavor, and overall acceptability. The crude fat contents showed significant correlation with juiciness (r=0.59), tenderness (r=0.71), flavor (r=0.55), and overall acceptability (r=0.69). The lower sensory trait scores were related to higher WBs. Grade $1^+$ Hanwoo beef had a significantly higher WBs and lower fat contents when compared to grade $1^{++}$ Hanwoo beef (p<0.05).