• Journal of Genetic Medicine
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• v.1 no.1
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• pp.27-31
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• 1997

Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia (CAH) and is caused by genetic impairment of the gene (CYP21B). In the human genome, CYP21B is located within the MHC class III region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of fourth component of complement. This highly complex gene cluster in this area may predispose genetic instability of CYP21, i.e. mutations. In this study, tried to investigate the frequency of duplication and deletion of CYP21 and patterns of the genetic alterations of these genes.We also compared the genetic alteration in normal subjects with those of the CAH patients. The results showed that 15% of the normal korean population have duplication or deletion of CYP21. There was one normal subject with heterozygous deletion of CYP21B. Of the 5 CAH patients examined, 2 were found to show abnormal patterns. One was a large-scale gene conversion and the other a gene conversion associated with deletion involving both CYP21B and C4 locus II gene. Through this study, we carne to the conclusion that the duplication or even deletion of CYP21 and C4 might be quite a common event in the Korean population and these rearrangements must be regarded as polymorphisms. It could contribute to a high incidencs of CAH by providing a genetic pool of instable CYP21.

• The Korean Journal of Nuclear Medicine
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• v.33 no.1
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• pp.49-56
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• 1999

Purpose: Heart to liver ratio on T1-201 per rectal scintigraphy (shunt index) is known to be useful in the assessment of portal systemic shunt. We assessed T1-201 uptake pattern and early liver/heart uptake rate of T1-201 and correlated with shunt index in patients with chronic active hepatitis (CAH) and liver cirrhosis (LC). Materials and Methods: Fifty eight patients with biopsy-proven chronic liver disease (35 with CAH, 23 with LC) underwent T1-201 per rectum scintigraphy after instillation of 18.5 MBq of T1-201 into the upper rectum. We evaluated hepatic uptake (type 1 : homogeneous, 2: inhomogeneous segmental, 3: inhomogeneous nonsegmental) and extrahepatic uptake of spleen, heart and kidney (grade 0: no uptake, 1: less than liver, 2: equal to liver, 3: greater than liver). We measured the early liver/heart uptake rate (the slope of the liver to heart uptake ratio for 10 min) and shunt index (heart to liver uptake ratio). T1-201 uptake pattern and early liver/heart uptake rate of T1-201 was correlated with the pathologic diagnosis and shunt index. Results: Hepatic uptake patterns of type 1 and 2 were dominant in CAH (CAH: 27/35, LC. 8/23), and type 3 in LC (CAH: 8/35, LC: 15/23)(p<0.005). The grades of extrahepatic uptake were higher in LC than in CAH (spleen: p<0.001, other soft tissue: p<0.005). The early liver/heart uptake rate of CAH ($0.110{\pm}0.111$) was significantly higher than that of LC ($0.014{\pm}0.090$)(p<0.001). The sensitivity and specificity of the early liver/heart uptake rate were 77.7% and 67.7% in differentiating LC from CAH. There was negative correlation between early liver/heart uptake rate and shunt index (r=-0.3347, p<0.01). Conclusion: Hepatic and extrahepatic uptake pattern and early liver/heart uptake rate on T1-201 per rectum scintigraphy are useful in the assessment of portal systemic shunt in patients with chronic liver disease.

• Journal of the Microelectronics and Packaging Society
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• v.23 no.1
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• pp.23-28
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• 2016

In this study, the effects of the contact angle (CA) and contact angle hyteresis (CAH) of planar and nano-patterned surfaces on rolling resistance of water droplet were studied. Based on the investigation on the CAH of water droplet on surfaces with various static wettability, it was found that the rolling resistance coefficient of water droplet is highly influenced by the surface pattern as well as CAH. The observed results suggest that the optimal surface patterns should be designed in order to minimize the rolling resistance of water droplet for the practical applications where superhydrophocitiy is required.

• The Korean Journal of Nuclear Medicine
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• v.17 no.2
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• pp.49-55
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• 1983

By radioimmunoassay, serologic markers of Hepatitis B Virus were studied in 44 patients with acute viral hepatitis, 10 patients with chronic persistent hepatitis, 10 patients with chronic active hepatitis, 44 patients with liver cirrhosis and 25 patients with primary hepato cellular carcinoma. The results were follows: 1) HBsAg was present in 77.2% of AVH, 40% of CPH, 80% of CAH, 55.1% of LC and 68 % of PHC. In this HBsAg positive groups, all but one in liver cirrhosis had Anti-HBc. 2) Anti-HBs was most commonly detected in CPR and accompanied by Anti-HBc except one case in AVH. 3) Anti-HBc was the only marker detected in 11.4% of AVH, 20% of CPH, 20% of CAH, 16.3% of LC and 8% of PHC. 4) HBeAg was most commonly found in HBsAg-positive CPH but Anti-HBe was most frequently detected in PHC. 5) The absence of HBV markers was noted in 2.3% of AVH, 10% of CPH, 8% of PHC except CAH and LC.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.37-42
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• 2024

Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by decreased cortisol secretion, with 21-hydroxylase deficiency being the most common type. It is uncommon for CAH to present primarily as cholestasis; therefore, when a patient presents with prolonged jaundice, it is difficult to suspect CAH immediately. In this report, we aim to share our experience with an exceptional case of 21-hydroxylase deficiency. A 28-day-old male visited the outpatient clinic due to prolonged jaundice and elevated 17α-hydroxyprogesterone (17-OHP) levels in the newborn screening test. Since he showed no other symptoms such as lethargy or vomiting, he underwent a routine blood test for jaundice and a retest of 17-OHP at the outpatient clinic. Two hours after the blood draw, he was found to have severe hyponatremia and hyperkalemia, so he was immediately admitted to the intensive care unit. After treatment with hydrocortisone, fludrocortisone, sodium chloride, and intravenous fluids, the cholestasis and electrolyte imbalances improved over time. He was diagnosed with 21-hydroxylase deficiency, salt-wasting type, which was confirmed by the ACTH stimulation test and genetic testing. It is important to make a prompt diagnosis of CAH to avoid missing critical timing. Therefore, CAH should not be overlooked, even if the patient does not exhibit typical symptoms.

• Journal of Biomedical Engineering Research
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• v.14 no.4
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• pp.341-348
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• 1993

Automated system to analyze liver function test results is presented based on fuzzy logic knowledge. Clinician's knowledge and experience was first expressed in linguistic terms fol- lowed by conversion to numerical values to create membership functions of disease possibility for each test item and liver disease. Membership functions were then compensated for different relative importances of test items. Liver diseases considered were acute viral hepatitis (AVH), chronic persistent hepatitis(CPH), chronic active hepatitis(CAH), and liver cirrhosis(LC), Liver function test results of alanine aminotransferase(ALT), aspartate amino- transferase(AST) , glutamate dehydrogenase(GDH), ornithine carbamyltransferase(OCT) , ALT/AST, and 10* GDH/ALT in 218 patients were analyzed by the present system, welch resulted in 80% accuracy. AVH and CAH showed the highest 93 % and the lowest 58% ac- curacies, respectively, which was similar to the clinician's expectation. The simple mathemat- ical formulation of the present system would enable an easy implementation in commercial analysis instruments. Also, the identical fuzzy logic can be applied to similar diagnostic envi- ronments in general.

• Proceedings of the Korean Society of Soil and Groundwater Environment Conference
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• 2001.04a
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• pp.214-217
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• 2001

자연계에서는 오염물질이 단일물질로 존재하기보다는 혼합물로 존재하는 것이 대부분이다. 본 연구에서는 지하수 오염물질 chlorinated aliphatic hydrocarbon(CAH)들 중 trichloroethylene(TCE), vinyl chloride(VC)에 대해서 Fe$^{\circ}$와 함께 미생물, 활성탄을 이용하여 단일물질 및 혼합물질상태에서 그 분해특성을 살펴보았다. 실험은 120$m\ell$ serum bottle을 이용하여 단일물질 및 혼합물질상태에서 그 분해특성을 살펴보았다. 실험은 120$m\ell$ serum bottle을 이용하였고 headspace 50${\mu}\ell$를 GC에 주입하여 각 오염물질 농도를 분석하였으며, Fe$^{\circ}$, Fe$^{\circ}$+ cell, Fe$^{\circ}$+ 활성탄 3가지 조건에서 TCE (25${\mu}\ell$)가 단일화합물 또는 VC(10$\mu\textrm{m}$)와 혼합화학물로 존재시 분해특성을 조사하였다. 단일화합물로 존재시 2시간후 TCE농도 측정 결과 Fe$^{\circ}$만을 이용하였을 때보다 활성탄, Cell을 함께 이용하였을 경우 그 분해율이 각각 1.6배, 1.8배 높게 나타났다. 그러나, VC와 혼화합물로 존재시 TCE 분해율은 단일 화합물로 존재시와 비교 Fe$^{\circ}$, Fe$^{\circ}$+ 활성탄, Fe$^{\circ}$+ cell 조건에서 각각 63%, 28%, 5%로 나타났다. VC는 Fe$^{\circ}$만으로는 분해가 되지 않았지만 cell에 의해 완전분해 되었으며, 함께 존재시 TC는 Fe$^{\circ}$만으로는 분해가 되지 않았지만 cell에 의해 완전분해 되었으며, 함께 존재시 TCE분해에 저해작용을 미치는 것으로 나타났다.

• Development and Reproduction
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• v.20 no.2
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• pp.135-140
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• 2016

Genomic DNAs isolated from crucian carp of four rivers, belonging to the family Cyprinidae was amplified by seven oligonucleotides primers. In the present study, we employed hierarchical clustering method in order to reveal genetic distances and variations. Crucian carp was acquired from Hangang river (CAH), Geumgang river (CAG), Nakdonggang river (CAN) and Yeongsangang river (CAY). The primer BION-12 generated the most loci (a total of 50) with an average of 10 in the CAY population. The primer BION-10 generated the least loci (a total of 19), with an average of 3.8 in the CAG population, in comparison to the other primers used. Seven oligonucleotides primers made 16.7 average no. per primer of specific loci in the CAH population, 7.4 in the CAG population, 8.6 in the CAN population and 0.9 in the CAY population, respectively. The specific loci generated by oligonucleotides primers revealed inter-individual-specific characteristics, thus disclosing DNA polymorphisms. The dendrogram obtained by the seven oligonucleotides primers indicates four genetic clusters. The genetic distance that displayed significant molecular differences was between individuals no.06 and no.08 from the CAG population (genetic distance = 0.036), while the genetic distance among the five individuals that displayed significant molecular differences was between individuals no.08 and no.09 from the CAG population (genetic distance = 0.088). With regard to average bandsharing value (BS) results, individuals from CAY population ($0.985{\pm}0.009$) exhibited higher bandsharing values than did individuals from CAH population ($0.779{\pm}0.049$) (P<0.05). Relatively, individuals of CAY population were fairly closely related to that of CAN location (genetic distance between two populations<0.016).

• Proceedings of the Korean Society of Soil and Groundwater Environment Conference
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• 2003.04a
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• pp.188-191
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• 2003

Sing]e-well-push-pull tests were developed for use in assessing the feasibility of in-situ aerobic cometabolism of chlorinated aliphatic hydrocarbons (CAHs). The series includes Transport tests, Biostimulation tests, and Activity tests. Transport tests are conducted to evaluate the mobility of solutes used in subsequent tests. These included bromide or chloride (conservative tracers), propane (growth substrate), ethylene, propylene (CAH surrogates), dissolved oxygen (electron acceptor) and nitrate (a minor nutrient). Tests were conducted at an experimental well field of Oregon State University. At this site, extraction phase breakthrough curves for all solutes were similar, indicating apparent conservative transport of the dissolved gases and nitrate prior to biostimulation. Biostimulation tests were conducted to stimulate propane-utilizing activity of indigenous microorganisms and consisted of sequential injections of site groundwater containing dissolved propane and oxygen. Biostimulation was detected by the increase in rates of propane and oxygen utilization after each injection. Activity tests were conducted to quantify rates of substrate utilization and to confirm that CAH-transforming activity had been stimulated. In particular, the transformation of injected CAH surrogates ethylene and propylene to the cometabolic byproducts ethylene oxide and propylene oxide provided evidence that activity of the monooxygenase enzyme system, responsible for aerobic cometabolic transformations of CAHs had been stimulated. Estimated zero-order transformation rates decreased in the order propane > ethylene > propylene. The series of push-pu3l tests developed and field tested in this study should prove useful for conducting rapid, low-cost feasibility assessments for in situ aerobic cometabolism of CAHs.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.150-155
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• 2014

The measurement of $17{\alpha}$-hydroxyprogesterone ($17{\alpha}$-OHP) in a dried blood spot on filter paper is an important for screening of congenital adrenal hyperplasia (CAH). Since high levels of $17{\alpha}$-OHP are frequently observed in premature infants without congenital adrenal hyperplasia, we evaluated cuts-off based on birth weight and performed validation. Birth weight and $17{\alpha}$-OHP concentration data of 292,204 newborn screening subjects in Greencross labopratories were analyzed. The cut-off values based on birth weight were newly evaluated and validated with the original data. The mean $17{\alpha}$-OHP concentration were 7.25 ng/mL in very low birth weight (VLBW) group, 4.02 ng/mL in low birth weight (LBW) group, 2.53 g/mL in normal birth weight (NBW) group, and 2.24 ng/mL in heavy birth weight (HBW) group. The cut-offs for CAH were decided as follows: 21.12 ng/mL for VLBW and LBW groups and 11.14 ng/mL for NBW and HBW groups. When applied new cut-offs for original data, positive rates in VLBW and LBW groups were decreased and positive rates in NBW and HBW groups were increased. The cut-offs based on birth weight should be used in the screening for CAH. We believe that our new cut-off reduce the false positive rate and false negative rate and our experience for cut-off set up and validation will be helpful for other laboratories doing newborn screening test.