• Title/Summary/Keyword: Genetic Evaluation

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CLINICAL STUDY OF POSITRON EMISSION TOMOGRAPHY WITH $[^{18}F]$-FLUORODEOXYGLUCOSE IN MAXILLOFACIAL TUMOR DIAGNOSIS (구강 악안면 영역의 암종 진단에 있어서 $[^{18}F]$-Fluorodeoxyglucose를 이용한 양전자방출 단층촬영의 임상적 연구)

  • Kim, Jae-Hwan;Kim, Kyung-Wook;Kim, Yong-Kack
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.26 no.5
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    • pp.462-469
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    • 2000
  • Positron Emission Tomography(PET) is a new diagnostic method that can create functional images of the distribution of positron emitting radionuclides, which when administered intravenously in the body, makes possible anatomical and functional analysis by quantity of biochemical and physiological process. After genetic and biochemical changes in initial stage, malignant tumor undergoes functional changes before undergoing anatomical changes. So, early diagnosis of malignant tumors by functional analysis with PET can be achieved, replacing traditional anatomical analysis, such as computed tomography(CT) and magnetic resonance image(MRI), etc. Similarly, PET can identify malignant tumor without confusion with scar and fibrosis in follow up check. In the Korea Cancer Center Hospital(KCCH) from October 1997 to September 1999, clinical study was performed in 79 cases that underwent 89 times PET evaluation with [18F]-Fluorodeoxyglucose for diagnosis of oral and maxillofacial tumors, and the data was analysed by Bayesian $2{\times}2$ Classification Table. The results were as follows : Evaluation for initial diagnosis with FDG-PET (P<0.005) 1. Agreement rate or accuracy rate is 88.9%. 2. Sensitivity is 95.2%, and specificity 66.7%. 3. Positive predictive rate is 90.9%, and negative predictive rate 80.0%. 4. In consideration of tumor stage, diagnostic rate in less than stage II was 90% and in greater than stage III 100%. 5. In consideration of tumor size, diagnostic rate in less than T2 was 92.3% and in greater than T3 100%. After primary treatment, evaluation for follow up check with FDG-PET (P < 0.001) 1. Agreement rate or accuracy rate is 85.4%. 2. Sensitivity is 87.5%, and specificity 82.4%. 3. Positive predictive rate is 87.5%, and negative predictive rate 82.4%. 4. In 24 recurred cases, 6 had distant metastasis, and 5 of them were diagnosed with FDG-PET, resulting in diagnostic rate of FDG-PET of 83.3%. From the above results, Positron Emission Tomography with [18F]- Fluorodeoxyglucose appears to be more sensitive and accurate for detecting the presence of oral and maxillofacial tumors, and has various clinical applications such as early diagnosis of tumor in initial and follow up check and detection of distant metastasis.

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THE IMMUNOHISTOCHEMICAL STUDY ON THE EXPRESSION OF p53 PROTEIN AND CYCLIN D1 IN ORAL SQUAMOUS CELL CARCINOMAS (구강 편평세포암종에서 p53 단백과 Cyclin D1발현에 대한 면역조직화학적 연구)

  • Kim, Jong-Yub;Kim, Kyung-Wook;Lee, Jae-Hoon;Kim, Chang-Jin
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.21 no.2
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    • pp.139-148
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    • 1999
  • Oral cancer is a common neoplasm in humans and etiologic mechanism is not well known, so treatment and evaluation of oral cancer is difficult problem. Traditional TNM classification between prognosis of tumors and classification of histopathologic differentiation has problem like lack of objectivity through operators. In molecular biology, cancer is developed by alteration of activation of oncogene and/or inactivation of tumor suppressor gene. The p53 gene, one of the tumor suppresor genes, is believed to play an important role through mutation and overexpression in the progression of human cancers. The p53 mutation is most frequent genetic disorder in humans. The Cyclin D1 has tumor suppresion activity by regulation of cell cycle. The Cyclin D1 regulate activity of Rb tumor suppresor gene by stimulation of CDK4 The purpose of this study was to observe the expression of p53 protein and Cyclin D1 in oral squamous cell carcinoma, and to get expectation of the malignancy and prognosis of oral squamous cell carcinoma. Using the 15 cases of squamous cell carcinoma and the microscopic H&E and immunohistochemical stain. We divided it into 3 groups according to the stain extent, clinical stage and histologic differentiation. The results were as follows1.In the features of immunohistochemical stain of 15 cases of squamous cell carcinoma, positive reaction of p53 was identified in 8 cases (53.3%) and positive reaction of cyclin D1 was identified in 3 cases (20%). Both positive reaction of p53 protein and Cyclin D1 was show in only one case. 2.8 of p53 positive cases were linked in 87.5% of the end stage tumor, 62.5% of neck node involvement, 87.5% of poorly and moderately histopathplogic differentiation. 3. All 3 of Cyclin D1 positive cases were linked in the end stage tumor, neck node involvement, poorly and moderately histopathologic differentiation. From above results, expression of p53 protein was identified in 53.3% of 15 cases and these results mean oral squamous cell carcinoma was drived by mutation of p53 protein. Especially, highly positive reaction of p53 protein and Cyclin D1 was identified in cases that involvement of neck lymph node and the end stage tumors and it means that the evaluation of p53 protein and Cyclin D1 was useful for evaluation of malignant tumor as specific tumor marker.

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Genomic selection through single-step genomic best linear unbiased prediction improves the accuracy of evaluation in Hanwoo cattle

  • Park, Mi Na;Alam, Mahboob;Kim, Sidong;Park, Byoungho;Lee, Seung Hwan;Lee, Sung Soo
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.10
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    • pp.1544-1557
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    • 2020
  • Objective: Genomic selection (GS) is becoming popular in animals' genetic development. We, therefore, investigated the single-step genomic best linear unbiased prediction (ssGBLUP) as tool for GS, and compared its efficacy with the traditional pedigree BLUP (pedBLUP) method. Methods: A total of 9,952 males born between 1997 and 2018 under Hanwoo proven-bull selection program was studied. We analyzed body weight at 12 months and carcass weight (kg), backfat thickness, eye muscle area, and marbling score traits. About 7,387 bulls were genotyped using Illumina 50K BeadChip Arrays. Multiple-trait animal model analyses were performed using BLUPF90 software programs. Breeding value accuracy was calculated using two methods: i) Pearson's correlation of genomic estimated breeding value (GEBV) with EBV of all animals (rM1) and ii) correlation using inverse of coefficient matrix from the mixed-model equations (rM2). Then, we compared these accuracies by overall population, info-type (PHEN, phenotyped-only; GEN, genotyped-only; and PH+GEN, phenotyped and genotyped), and bull-types (YBULL, young male calves; CBULL, young candidate bulls; and PBULL, proven bulls). Results: The rM1 estimates in the study were between 0.90 and 0.96 among five traits. The rM1 estimates varied slightly by population and info-type, but noticeably by bull-type for traits. Generally average rM2 estimates were much smaller than rM1 (pedBLUP, 0.40 to0.44; ssGBLUP, 0.41 to 0.45) at population level. However, rM2 from both BLUP models varied noticeably across info-types and bull-types. The ssGBLUP estimates of rM2 in PHEN, GEN, and PH+ GEN ranged between 0.51 and 0.63, 0.66 and 0.70, and 0.68 and 0.73, respectively. In YBULL, CBULL, and PBULL, the rM2 estimates ranged between 0.54 and 0.57, 0.55 and 0.62, and 0.70 and 0.74, respectively. The pedBLUP based rM2 estimates were also relatively lower than ssGBLUP estimates. At the population level, we found an increase in accuracy by 2.0% to 4.5% among traits. Traits in PHEN were least influenced by ssGBLUP (0% to 2.0%), whereas the highest positive changes were in GEN (8.1% to 10.7%). PH+GEN also showed 6.5% to 8.5% increase in accuracy by ssGBLUP. However, the highest improvements were found in bull-types (YBULL, 21% to 35.7%; CBULL, 3.3% to 9.3%; PBULL, 2.8% to 6.1%). Conclusion: A noticeable improvement by ssGBLUP was observed in this study. Findings of differential responses to ssGBLUP by various bulls could assist in better selection decision making as well. We, therefore, suggest that ssGBLUP could be used for GS in Hanwoo proven-bull evaluation program.

Characterization of Dopamine Receptor D4 Gene Polymorphisms in Horses (말에서 Dopamine Receptor D4 유전자의 변이 특성 분석)

  • Choi, Jae-Young;Choi, Yeonju;Lee, Jongan;Shin, Sang-Min;Yoon, Minjung;Kang, Yong-Jun;Shin, Moon-Cheol;Yoo, Ji-Hyun;Kim, Hyeonah;Cho, In-Cheol;Yang, Byoung-Chul;Kim, Nam-Young
    • Journal of Life Science
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    • v.32 no.1
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    • pp.29-35
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    • 2022
  • This study was conducted to analyze the genetic polymorphisms of dopamine receptor D4 (DRD4) in horse breeds and its association with substrate characteristics in Jeju crossbreds (Jeju Horse × Thoroughbred). Polymorphisms in DRD4 are candidate genes associated with temperament in various mammals, including humans. Single nucleotide polymorphism (SNP) G292A in the exon 3 region of the horse DRD4 has a reported association with curiosity and vigilance in thoroughbreds. Sanger sequencing was used to identify polymorphisms of the mutations in DRD4 in three horse breeds. The SNP frequency in Jeju horses was significantly different from the frequency in other breeds. Character evaluation, conducted in the Jeju crossbreds and scored using a temperament test and contact test, revealed a high correlation between each test. Comparison of the polymorphism in the DRD4 of horses and the results of the character evaluation revealed lower scores for all temperaments in horses carrying allele A. Comparison of the SNP of G292A and blood dopamine levels in Jeju crossbreds showed 2.87 times higher levels for the GA type than for the GG type. This study identified an association between DRD4 polymorphism and various test methods for evaluating horse temperament and levels of neurotransmitters. Further research could validate the use of this gene as a genetic marker for character evaluation.

Expression of Expanded Polyglutamine Disease Proteins in Drosophila (Drosophila Polyglutamine Disease Models) (증가된 글루타민에 의해 초래되는 뇌신경질환의 초파리 모델에 대한 연구)

  • Shin, Sang Min;Paik, Kyung Hoon;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.48 no.4
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    • pp.425-432
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    • 2005
  • Purpose : Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic Drosophila models show similar dysfunctions as are seen in human patients. Methods : Polyglutamine disease transgenic Drosophila were tested for their climbing ability. And using genetic methods, the effects of anti-apoptotic gene bcl-2 and chemical chaperones on neurodegeneration were observed. Also, spinocerebellar ataxia 2 (SCA2) transgenic Drosophila lines were generated for future studies. Results : Expanded forms of spinocerebellar ataxia 3 (SCA3) transgenic protein causes characteristic locomotor dysfunction when expressed in the nervous system of Drosophila but the anti-apoptotic gene bcl-2 shows no evidence of ameliorating the deleterious effect of the expanded protein. However, Glycerol, a chemical chaperone, seemed to reduce the toxicity, at least in the eyes of the transgenic flies. The level SCA2 expression is too weak in the transgenic SCA2 Drosophila for evaluation. Conclusion : SCA3 transgenic Drosophila show ataxic behavior as observed in human patients. Chemical chaperones such as glycerol may prove beneficial in this class of genetic disease, which has no current method of cure.

Evaluation of mango saponin in broilers: effects on growth performance, carcass characteristics, meat quality and plasma biochemical indices

  • Zhang, Y.N.;Wang, J.;Qi, B.;Wu, S.G.;Chen, H.R.;Luo, H.Y.;Yin, D.J.;Lu, F.J.;Zhang, H.J.;Qi, G.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.8
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    • pp.1143-1149
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    • 2017
  • Objective: The objective of the present study was to determine whether mango saponin (MS) could be used as a feed additive in broiler chicks by evaluating growth performance, carcass characteristics, meat quality, and plasma biochemical indices. Methods: A total of 216 1-d-old Arbor Acres male broiler chicks were randomly assigned into three dietary treatments supplemented with 0 (control), 0.14% (MS 0.14%), or 0.28% (MS 0.28%) MS. Each treatment had six replicates (cages) with 12 chicks each. The feeding trial lasted for six weeks. Results: Compared with the control, dietary supplemented with 0.14% or 0.28% MS increased average daily weight gain of chicks in the grower (22 to 42 d) and the whole (1 to 42 d) phases, and the final body weight of chicks on d 42 was higher in MS supplemented groups (p<0.05). Lower $L_{45min}{^{\star}}$ (lightness) and $L_{24h}{^{\star}}$ values, lower $b_{24h}{^{\star}}$ (yellowness) value, and higher $a_{45min}{^{\star}}$ (redness) and $a_{24h}{^{\star}}$ values of the breast muscle were observed in chicks fed with 0.28% MS on d 42 (p<0.05). The total antioxidant capacity in plasma increased in MS 0.14% group on d 21 (p<0.001). Lower contents of plasma total cholesterol and triglyceride were observed in chicks fed with 0.28% MS on d 21 and d 42, whereas the group supplemented with 0.14% MS only decreased plasma triglyceride content on d 21 (p<0.05). The glucose content in plasma decreased in MS 0.28% group on d 42 (p<0.001). Conclusion: Overall, MS could be used as a feed additive in broiler chicks, and the supplemental level of 0.28% MS in diet could improve growth performance, meat quality, and plasma lipid metabolism in broiler chicks.

Evaluation of Optimal Time Between Overhaul Period of the First Driving Devices for High-Speed Railway Vehicle (고속철도차량 1차 구동장치에 대한 완전분해정비의 최적 주기 평가)

  • Jung, Jin-Tae;Kim, Chul-Su
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.16 no.12
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    • pp.8700-8706
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    • 2015
  • The first driving device of the power bogies for the Korean high-speed railway vehicle consists of the traction motor (TM) and the motor reduction gears unit (MRU). Although TM and MRU are the mechanically integrated structures, their time between overhauls (TBO) have two separate intervals due to different technical requirements(i.e. TBO of MRU: $1.8{\times}10^6km$, TBO of TM: $2.5{\times}10^6km$). Therefore, to reduce the unnecessary number of preventive maintenances, it is important to evaluate the optimal TBO with a viewpoint of reliability-center maintenance towards cost-effective solution. In this study, derived from the field data in maintenance, fault tree analysis and failure rate of the subsystem considering criticality of the components are evaluated respectively. To minimize the conventional total maintenance cost, the same optimal TBO of the components is derived from genetic algorithm considering target reliability and improvement factor. In this algorithm, a chromosome which comprised of each individual is the minimum preventive maintenance interval. The fitness function of the individual in generation is acquired through the formulation using an inverse number of the total maintenance cost. Whereas the lowest common multiple method produces only a four percent reduction compared to what the existing method did, the optimal TBO of them using genetic algorithm is $2.25{\times}10^6$km, which is reduced to about 14% comparing the conventional method.

Determination of Ozone Tolerance on Environmental Tree Species Using Standard Index (표준화 지수를 이용한 환경수목의 오존 내성 결정)

  • Han, Sim-Hee;Kim, Du-Hyun
    • Korean Journal of Agricultural and Forest Meteorology
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    • v.11 no.1
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    • pp.3-12
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    • 2009
  • Ozone tolerance of tree species was determined by standard index of physiological damages and biochemical defense responses under short-term ozone exposure. At the end of 150ppb $O_3$ fumigation, photosynthetic characteristics and antioxidative enzyme activities were analyzed in the leaves of five species(Koelreuteria paniculata, Firmiana simplex, Styrax japonica, Fraxinus rhynchophylla, Viburnum sargentii). Injury index was determined by the effect of ozone on photosynthetic parameters and malondialdehyde(MDA) content, and tolerance index was calculated using the rate of increase in superoxide dismutase(SOD), ascorbate-peroxidase(APX), glutathione reductase(GR) and catalase(CAT) activities. Apparent quantum yield(AQY), carboxylation efficiency(Ce) and photo-respiration rate(PR) decreased in the leaves of five species with increasing ozone exposure time. These parameters were considered as an appropriate indicator for stress evaluation. Antioxidative enzyme activities showed various results depending on the tree species, exposure time, and enzyme types. SOD activity of K. paniculata increased with ozone exposure time, and that of F. rhynchophylla increased only after 6 hours of ozone exposure. CAT activity of $O_3$-exposed F. simplex was lower than the control. Based on standard index, ozone tolerance ability of five species was determined as two tolerant species(F. rhynchophylla > K. paniculata) and three sensitive species(S. japonica > F. simplex > V. sargentii).

Evaluation of the Genetic Toxicity of Synthetic Chemicals (XI) - a Synthetic Sulfonylurea Herbicide, Pyrazosulfuron-ethyl-

  • Ryu, Jae-Chun;Kim, Eun-Young;Kim, Young-Seok;Yun, Hye-Jung
    • Environmental Mutagens and Carcinogens
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    • v.24 no.1
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    • pp.33-39
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    • 2004
  • To validate and to estimate the chemical hazard playa very important role to environment and human health. The detection of many synthetic chemicals including agrochemicals that may pose a genetic hazard in our environment is of great concern at present. Since these substances are not limited to the original products, and enter the environment, they have become widespread environmental pollutants, thus leading to a variety of chemicals that possibly threaten the public health. Pyrazosulfuron-ethyl [Ethyl-5-(4,6-dimethoxypyrimidin-2-ylcarbamoylsulfamoyl)-1-methylpyrazole-4-carboxylate, $C_{14}H_{18}N{6}O_{7}S,$ M.W. =414.39, CAS No. 93697-74-6], is one of well known rice herbicide belong in the sulfonyl urea group. To clarify the genotoxicity of this agrochemical, Ames bacterial reversion assay, in vitro chromosomal aberration assay with Chinese hamster lung (CHL) fibroblast and bone marrow micronucleus assay in mice were subjected. In Ames assay, although pyrazosulfuron-ethyl revealed cytotoxic at 5,000-140 $\mug/plate$ in Salmonella typhimurium TA100, no dose-dependent mutagenic potential in 4.4~70 $\mug/plate$ of S. typhimurium TA 98, TA 100, TA1535 and TA 1537 both in the absence and presence of S-9 metabolic activation system was observed. Using CHL fibroblasts, the 50% cell growth inhibition concentration $(IC_{50})$ of pyrazosulfuron-ethyl was determined as 1,243 $\mug/mL,$ and no chromosomal aberration was observed both in the absence and presence of S-9 mixture in the concentration range of 311-1,243 $\mug/mL.$ And also, in vivo micronucleus assay using mouse bone marrow, pyrazosulfuron-ethyl revealed no remarkable induction of MNPCE (micronucleated polychromatic erythrocytes/1000 polychromatic erythrocytes) in the dose range of 625-2,500 mg/kg body weight when administered orally. Consequently, Ames bacterial gene mutation with Salmonella typhimurium, in vitro chromosome aberration with mammalian cells and in vivo bone marrow micronucleus assay revealed no clastogenic potential of pyrazosulfuron-ethyl in this study.

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Comparison of In Vitro Cell Transformation Assay Using Murine Fibroblasts and Human Keratinocytes

  • Ahn, Jun-Ho;Park, Sue-Nie;Yum, Yung-Na;Kim, Ji-Young;Lee, Michael
    • Toxicological Research
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    • v.24 no.1
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    • pp.37-44
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    • 2008
  • The in vitro cell transformation assays (CTA) were performed using BALB/3T3 murine fibroblasts and HaCaT human keratinocytes in order to evaluate concordance between both in vitro CTAs and carcinogenicity with compounds differing in their genotoxic and carcinogenic potential. Six test articles were evaluated, two each from three classes of compounds: genotoxic carcinogens (2-amino-5-nitrophenol and 4-nitroquinoline-N-oxide), genotoxic noncarcinogens (8-hydroxyquinoline and benzyl alcohol), and nongenotoxic carcinogens (methyl carbamate and N-nitrosodiphenylamine). Any foci of size $\geq$2 mm regardless of invasiveness and piling was scored as positive in CTA with BALB/3T3. As expected, four carcinogens regardless of their genotoxicity had positive outcomes in two-stage CTA using BALB/3T3 cells. However, of the two genotoxic noncarcinogens, benzyl alcohol was positive CTA finding. We concluded that, of the 6 chemicals tested, the sensitivity for BALB/3T3 system was reasonably high, being 100%. The respective specificity for BALB/3T3 assay was 50%. We also investigated the correlation between results of BALB/3T3 assay and results from HaCaT assay in order to develop a reliable human cell transformation assay. However, evaluation of staining at later time points beyond the confluency stage did not yield further assessable data because most of HaCaT cells were detached after $2{\sim}3$ days of confluency. Thus, after test article treatment, HaCaT cells were split before massive cell death began. In this modified protocol for this HaCaT system, growing attached colonies were counted instead of transformed foci 3 weeks since last subculture. Compared to BALB/3T3 assay, HaCaT assay showed moderate low sensitivity and high specificity. Despite these differences in specificity and sensitivity, both cell systems did exhibit same good concordance between in vitro CTA and rodent carcinogenicity findings (overall 83% concordant results). At present the major weakness of these in vitro CTA is lack of validation for regulatory acceptance and use. Thus, more controlled studies will be needed in order to be better able to assess and quantitatively estimate in vitro CTA data.