• The korean journal of orthodontics
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• v.50 no.6
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• pp.383-390
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• 2020

Objective: To investigate the distribution, side involvement, phenotype, and associated anomalies of Korean patients with craniofacial clefts (CFC). Methods: The samples consisted of 38 CFC patients, who were treated at Seoul National University Dental Hospital during 1998-2018. The Tessier cleft type, sex, side involvement, phenotype, and associated anomalies were investigated using non-parametric statistical analysis. Results: The three most common types were #7 cleft, followed by #0 cleft and #14 cleft. There was no difference between the frequency of male and female. Patients with #0 cleft exhibited nasal deformity, bony defect, and missing teeth in the premaxilla, midline cleft lip, and eye problems. A patient with #3 cleft (unilateral type) exhibited bilateral cleft lip and alveolus. All patients with #4 cleft were the bilateral type, including a combination of #3 and #4 clefts, and had multiple missing teeth. A patient with #5 cleft (unilateral type) had a posterior openbite. In patients with #7 cleft, the unilateral type was more prevalent than the bilateral type (87.0% vs. 13.0%, p < 0.001). Sixteen patients showed hemifacial microsomia (HFM), Goldenhar syndrome, and unilateral cleft lip and palate (UCLP). There was a significant match in the side involvement of #7 cleft and HFM (87.5%, p < 0.01). Patients with #14 cleft had plagiocephaly, UCLP, or hyperterorbitism. A patient with #30 cleft exhibited tongue tie and missing tooth. Conclusions: Due to the diverse associated craniofacial anomalies in patients with CFC, a multidisciplinary approach involving a well-experienced cooperative team is mandatory for these patients.

• Toxicological Research
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• v.17
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• pp.145-155
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• 2001

Cytochrome P4502C19 (CYP2C19) is one of human polymorphic xenobiotic-metabolizing enzymes. The enzyme has been reported to catalyze more than 70 substrates, involving more than 100 reactions. These include several classes of therapeutic agents (e.g. anti-microbial. cardiovascular, psycho-active, etc.), sex hormones and insecticides. Associations of the CYP2C19 genotype/phenotype with individual differences in drug efficacy (e.g. diazepam, omeprazole, proguanil) and toxicity (e.g. mephenytoin, barbiturates) have been documented by many investigators. At least 11 allelic variants of CYP2C19 gene were reported to date. Most of the mutant alleles found in the poor metabolizer (PM) led to the production of truncated and/or inactive proteins. Except for the exon 6, single-nucleotide mutations were reported in all nine exons of the gene. Genetic polymorphism of CYP2C19 shows marked interethnic variation with the population frequencies of PM phenotype ranging from 1∼2% up to more than 50%. The prevalence of CYP2C19 PM tends to be higher in Asian and certain Pacific Islanders than other race or ethnic specificity. Genotyping results of CYP2C19 also revealed that there are different proportions of individual mutant alleles among ethnic populations. This may, in part, explains the interethnic difference in the metabolism of certain drugs (i.e. diazepam), though they were from the same CYP2C19 phenotype. Recently, our research group has studied the genotype and phenotype of CYP2C19 and found that the PM frequency (7∼8%) in Thais is lower than other Asian populations. Molecular and clinical impacts of this finding warrant to further investigation.

• Asian-Australasian Journal of Animal Sciences
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• v.15 no.5
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• pp.732-739
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• 2002

Milk samples with different phenotype combination of $\{kappa}$-casein and ${\beta}$-lactoglobulin and different preheating temperatures of 30, 70, 75 and $80^{\circ}C$ were used for cheesemaking under laboratory conditions. For the 853 batches of cheese, mean composition was 59.64% total solids, 30.24% fat and 23.66% protein, and the whey contained 6.93% total solids, 0.30% fat and 0.87% protein. Least squares analysis of the data indicated that heating temperature of the milk and ${\kappa}$-CN/${\beta}$-LG phenotypes had significant effects on cheese and whey compositions. The total solids, fat and protein contents of cheese were negatively correlated with preheating temperatures of milk. Cheese from BB/BB phenotype milk had the highest and those from AA/AA phenotype milk had the lowest concentrations of total solids, fat and protein. Mean recoveries of milk components in the cheese were 53.71% of total solids, 87.15% of fat, and 80.32% of protein. For the 10 different types of milk, maximum recoveries of milk components in cheese occurred with preheating temperature of $70^{\circ}C$ or $75^{\circ}C$ and lowest recoveries occurred at $80^{\circ}C$. The whey averaged 6.94% total solids, 0.30% fat and 0.87% protein. Losses of milk components in the whey were lowest for milk preheated at $80^{\circ}C$ and for milk containing the BB/BB phenotype.

• Journal of Veterinary Clinics
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• v.18 no.4
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• pp.334-340
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• 2001

This study was conducted to investigate changes in blood properties of high potassium (HK) phenotype Jindo dogs (15kg$\pm$2kg) after daily oral administration with water celery extracts (10 ml/kg) for 7 days. Blood samples were collected for three days in a row before administration of water celery extracts. After water celery extracts administration, blood samples were collected at 3h, 6h, 9h and then on daily basis until day 10 post administration (PA). At day 15, final sample was collected. Blood samples were analyzed on the basis of red blood cell (RBC), white blood cell (WBC), packed cell volume (PCV), hemoglobin (Hb) concentration, mean corpuscular volume(MCV), mean corpuscular hemoglobin concentration(MCHC), gluthathione concentration(GSH) and met-hemoglobin(Met-Hb) concentration. The significant changes (p<0.01, p<0.05) of RBCs were shown at 3 h to day 5, and days 7 and 9 after administration. PCV values were decreased form 3 h to day 10 after administration. Mean Hb concentration showed significant increase as 3 h to day 3, and day 6 to day 9 after administration. The significant changes (p<0.05) of WBCs were shown at 9 h and day 1 after administration. The increased numbers of MCV were detected at days 6 to 9 after administration (p<0.05, p<0.01). The significant changes of MCHC were shown at 9h and day 1 after administration. The significant increases (p<0.01, p<0.05) of GSH concentration were detected at days 1, 6 and 7 after administration. In Met-Hb concentration, the significant increases (p<0.05) occurred at only 9h and day 7 after administration, The significant increases (p<0.01, p<0.05) of reticulocyte were detected at days 2, 4, 5, 6 and 7. Data from blood samples collected at day 15 after administration showed that all of blood analysis results returned to normal level, compared to controls.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.29 no.1
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• pp.145-156
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• 2016

Objective : We performed a literature review for developing the clinical phenotype evaluation system of atopic dermatitis.Methods : We searched the papers that describe symptoms for atopic dermatitis through Oriental Medicine Advanced Searching Integrated System(OASIS) and Korean Studies Incategoryation Service System(KISS). We looked through all the papers and finally chose 47 papers that are suitable for inclusion. Then, we extracted symptoms from these papers and arranged them in order of frequency and validity through experts' conference.Results : We found 360 papers and chose 47 papers. We decided to include general information of patients, systemic and dermatologic symptoms in evaluation category of atopic dermatitis. Through experts' conference, it was decided that general information has age, sex and body type; Systemic symptoms have 9 items; Dermatologic symptoms have 15 items.Conclusion : To evaluate atopic dermatitis objectively, the standardization of diagnostic tool is needed. Therefore we developed a clinical phenotype evaluation system of atopic dermatitis.

• Molecules and Cells
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• v.24 no.2
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• pp.255-260
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• 2007

Bone marrow (BM) derived mesenchymal stem cells (MSC) are pluripotent cells which can differentiate into osteogenic, adipogenic and other lineages. In spite of the broad interest, the information about the changes in BM cell composition, in particularly about the variation of MSC number and their properties in relation to the age of the donor is still controversial. The aim of this study was to investigate the age associated changes in variations of BM cell composition, phenotype and differentiation capacities of MSC using a rat model. Cell populations were characterized by flow cytometry using light scattering parameters, DNA content and a set of monoclonal antibodies. Single cell analysis was performed by conventional fluorescent microscopy. In vitro culture of MSC was established and their phenotype and capability for in vitro differentiation into osteogenic and adipogenic cells was shown. Age related changes in tibiae and femurs, amount of BM tissue, BM cell composition, proportions of separated MSC and yield of MSC in 2 weeks of in vitro culture were found. At the same time, neither change in phenotype no in differentiation capacities of MSC was registered. Age-related changes of the number of MSC should be taken into account whenever MSC are intended to be used for investigations.

• Journal of Preventive Medicine and Public Health
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• v.27 no.3 s.47
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• pp.569-579
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• 1994

The genetically determined ability to metabolize debrisoquine (DBR) is related to risk of lung cancer and DBR hydroxylation exhibits wide inter-individual variation. In this study, 100 korean adults were tested for their ability to metabolize DBR. The DBR metabolic phenotype were determined by metabolic ratio (MR, DBR / 4-HDBR) which is the percent dose excreted as unchanged DBR divided by the percent dose excreted as 4-hydroxyebrisoquine(4-HDBR) in a aliquot of an eight hour urine sample, after 10mg DBR test dose administration. Analysis was performed on a capillary gas chromatograph fitted with electron capture detector. The results were as follows; 1 Geometric mean of DBR MR was 0.32 in male,0.27 in female,0.30 in total and the distribution of log (MR) was seemed to follow normal distribution. 2. Metabolic ratio of DBR was higher in non-smoker and non-drinker than in smoker and drinker without any statistically significant difference. 3. None of personal factors was significantly related to DBR MR except age. 4. The DBR metabolic phenotype was extensive metabolizer(EM) 93, intermediate metabolizer(IM) 7 by traditional method and EM 98, IM 3 by Caporaso's method. The poor metabolizer (PM) phenotype was not found by either method. 5. Maximal expected PM phenotype was 0.36% by traditional method and 0.04% by Caporaso's method.

• Toxicological Research
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• v.14 no.4
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• pp.569-575
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• 1998

One of the most frequent dejects in human cancer is the uncontrolled activation of the ms-signaling pathways. Significant evidence has accumulated to directly implicate members of the matrix metalloproteinases (MMPs) in tumor invasion and metastasis formation. We have previously shown that MMP-9 expression was significantly enhanced in the ras-tranfected HT1080 human fibrosarcoma cells at the mRNA level. In the present study, we investigated the roles of MMP-2 and -9 on the H-ras-induced invasive phenotypes of MCF 10A human breast epithelial cells and HT 1080 human fibrosarcoma cells. We show that H-ras is able to induce or enhance a signaling pathway leading to the enhancement of an invasive phenotype in both MCF10A and HT1080 cells as determined by matrigel invasion assay. We then examined the effect of H-ras activation on the expression of MMP-2 and -9 by measuring enzymatic activities and mRNA levels. Our data clearly demonstrated that H-ras prominently induces expression of MMP-2 in MCF10A cells, while it efficiently up regulates MMP-9 in HT1080 cells. Taken together, these findings suggest that the correlation between ras-mediated invasiveness and enhanced expression of MMPs may be cell type-specific: MMP-9 is closely associated with the invasive phenotype induced by ras activation in fibrosarcoma cells, whereas MMP-2 is more likely associated with it in epithelial cells.

• Annals of Laboratory Medicine
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• v.38 no.6
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• pp.585-590
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• 2018

Background: Although testing to detect weak D antigens using the antihuman globulin reagent is not required for D- patients in many countries, it is routinely performed in Korea. However, weak D testing can be omitted in D- patients with a C-E- phenotype as this indicates complete deletion of the RHD gene, except in rare cases. We designed a new algorithm for weak D testing, which consisted of RhCE phenotyping followed by weak D testing in C+ or E+ samples, and compared it with the current algorithm with respect to time and cost-effectiveness. Methods: In this retrospective study, 74,889 test results from January to July 2017 in a tertiary hospital in Korea were analyzed. Agreement between the current and proposed algorithms was evaluated, and total number of tests, time required for testing, and test costs were compared. With both algorithms, RHD genotyping was conducted for samples that were C+ or E+ and negative for weak D testing. Results: The algorithms showed perfect agreement (agreement=100%; ${\kappa}=1.00$). By applying the proposed algorithm, 29.56% (115/389 tests/yr) of tests could be omitted, time required for testing could be reduced by 36% (8,672/24,084 min/yr), and the test cost could be reduced by 16.53% (536.11/3,241.08 USD/yr). Conclusions: Our algorithm omitting weak D testing in D- patients with C-E- phenotype may be a cost-effective testing strategy in Korea.

• Journal of Microbiology and Biotechnology
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• v.32 no.3
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• pp.387-395
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• 2022

Deciphering the metabolites of human diseases is an important objective of biomedical research. Here, we aimed to capture the core metabolites of Fanconi anemia (FA) using the bioinformatics method of a multi-omics composite network. Based on the assumption that metabolite levels can directly mirror the physiological state of the human body, we used a multi-omics composite network that integrates six types of interactions in humans (gene-gene, disease phenotype-phenotype, disease-related metabolite-metabolite, gene-phenotype, gene-metabolite, and metabolite-phenotype) to procure the core metabolites of FA. This method is applicable in predicting and prioritizing disease candidate metabolites and is effective in a network without known disease metabolites. In this report, we first singled out the differentially expressed genes upon different groups that were related with FA and then constructed the multi-omics composite network of FA by integrating the aforementioned six networks. Ultimately, we utilized random walk with restart (RWR) to screen the prioritized candidate metabolites of FA, and meanwhile the co-expression gene network of FA was also obtained. As a result, the top 5 metabolites of FA were tenormin (TN), guanosine 5'-triphosphate, guanosine 5'-diphosphate, triphosadenine (DCF) and adenosine 5'-diphosphate, all of which were reported to have a direct or indirect relationship with FA. Furthermore, the top 5 co-expressed genes were CASP3, BCL2, HSPD1, RAF1 and MMP9. By prioritizing the metabolites, the multi-omics composite network may provide us with additional indicators closely linked to FA.