• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.27-30
• /
• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• The Korean Journal of Mycology
• /
• v.27 no.6 s.93
• /
• pp.383-385
• /
• 1999

Effects of temperature and initial pH of the medium on production of citric acid from cheese whey permeate by Aspergillus niger were investigated. A. niger was cultivated at four different temperatures (27, 30, 33, $36^{\circ}C$) and four different pHs (2, 3, 4, 5) for 15 days. During the fermentation the concentrations of lactose and citric acid in the culture broth were measured. The maximum production of citric acid which was 33.9 g/l (68.26% yield based on lactose utilized) was obtained at $33^{\circ}C$ and pH 3. The production of citric acid was not much affected by shaking speed. However, the shaking speed was found to influence the form of pellets during cell growth.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.8
• /
• pp.4675-4678
• /
• 2013

The aim of this study was to detect the expression of miR196a, miR146a, miR27a and miR200a in patients with colon cancer, and investigate the effect of miR27a expression on proliferation and invasion in colonic cancer cells. RT-PCR was employed to detect the expression levels in colon cancers. Then, colon cancer cells were cultured and transfected with 100 nM of miR27a mimics (80 nmol/L) or 80 nM miR27a inhibitors (80 nmol/L) in 24-well plates. Proliferation and invasion of colonic cancer cells were then determined by CCK-8 and Transwell assays, respectively. Our data showed miR27a to be high-expressed in patients with colon cancer. In addition, proliferation and invasion in the miR27a mimic group were significantly higher than in the control group and negative group (P<0.05), while, proliferation and invasion in the miR27a inhibitor group were obviously lowered (P<0.05). In conclusion, high expression of miR27a may play an important role in enhancing proliferation and invasion of colon cancer cells.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.5
• /
• pp.2661-2665
• /
• 2016

Silibinin is a natural polyphenol with high antioxidant and anticancer properties. In this study, its influence on two of the most commonly employed human breast cancer cell lines, MCF-7 and T47D, and one non-malignant MCF-10A cell line, were investigated and compared. Cell viability, the cell cycle distribution and apoptosis induction were analyzed by MTT and flow cytometry, respectively. The effect of silibinin on PTEN, Bcl-2, P21, and P27 mRNAs expression was also investigated by real-time RT-PCR. It was found that silibinin caused G1 cell cycle arrest in MCF-7 and MCF-10A cells but had no effect on the T47D cell cycle. Silibinin induced cytotoxic and apoptotic effects in T47D cells more than the MCF-7 cells and had no cytotoxic effect in MCF-10A cells under the same conditions. Silibinin upregulated PTEN in MCF-7 and caused slightly increased P21 mRNA expression in T47D cells and slightly increased PTEN and P21 expression in MCF-10A cells. Bcl-2 expression decreased in all of the examined cells under silibinin treatment. P27 mRNA expression upregulated in T47D and MCF-10A cells under silibinin treatment. PTEN mRNA in T47D and P21 and P27 mRNAsin MCF-7 were not affected by silibinin. These results suggest that silibinin has mostly different inhibitory effects in breast cancer cells and might be an effective anticancer agent for some cells linked to influence on cell cycle progression.

• Korean Journal of Adult Nursing
• /
• v.15 no.1
• /
• pp.14-21
• /
• 2003

Purpose: The purpose of this study is to determine the level of pain related to a blood sugar test. Specifically, the study attempts to compare the varying degree of pains when different types of blood sugar test are used. Method: A sample of 56 subjects is composed of DM patients admitted to a medical ward of C university hospital in Gwangju. Data were collected from July, 2001 to December, 2001. The blood sugar tests were administered in four different ways: (1) the use of 27G needle only, (2) the use of 27G needle followed by ice-packed treatment, (3) the use of 27G needle after EMLA cream application, and (4) the use of lancet. The degree of pain is measured with a visual analogue scale and performed twice. Result: In both measures, the use of 27G needle only method is shown to cause the highest level of pain in comparison with the rest of methods (F=4.01, p=.01; F=8.14, p=.00). However, the differences in pain between time in all methods were not found to be significant (t=-.85, p=.40; t=.80, p=.42; t=.31, p=.75; t=.19, p=.85). Conclusion: The study results indicate that the method using lanceter is more recommendable than the use of 27G needle only method. Further research is needed to support the current study result with the use of different measurement scales and to determine effective methods of blood sugar test to lower pain and compliance.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
• /
• 2006.05a
• /
• pp.98-101
• /
• 2006

본 연구는 사육면적에 따른 비육후기 28개월령 비거세 한우육의 냉장중 PH, 보수력, 지방산 조성 및 전자코에 의한 향기 패턴 비교를 구명하고자 실시하였다. 도축전 6개월 동안 사육면적(9, 18, 27 $m^2$)에 따라 공시하고 도축후 등심(M. longissimus) 부위를 $4{\pm}0.5^{\circ}C$에 9일 동안 저장하면서 실험하였다. pH는 저장 3일까지 27 $m^2$에서 사육한 한우육이 9, 18 $m^2$에서 사육한 한우육보다 유의적으로 높았다(p<0.05). 사후강직후 48시간의 드립 감량은 27 $m^2$에서 사육한 한우육이 9, 18 $m^2$에서 사육한 한우육보다 유의적으로 낮았다(p<0.05). 지방산 조성에서 C20:5n3(EPA)과 PUFA n3 지방산 총량은 27 $m^2$에서 사육한 한우육이 9 $m^2$에서 사육한 한우육보다 유의 적으로 높았으며(p<0.05), PUFA n6/n3 비율은 낮았다(p<0.05). 전자코의 PCA에 의한 향기 패턴은 저장기간 동안 사육면적에 따른 차이가 나타나지 않았다. 따라서 27 $m^2$에서 사육한 비거세 한우육의 보수력 및 PUFA n3 지방산 함량이 가장 높았으며, PUFA n6/n3 비율은 가장 낮았다.

• Genomics & Informatics
• /
• v.18 no.3
• /
• pp.27.1-27.12
• /
• 2020

The prevalence of early-onset type 2 diabetes (EOT2D) is increasing in Asian countries. Genome-wide association studies performed in European and various other populations have identified associations of numerous variants with type 2 diabetes in adults. However, the genetic component of EOT2D which is still unexplored could have similarities with late-onset type 2 diabetes. Here in the present study we aim to identify the association of variants with EOT2D in South Indian population. Twenty-five variants from 18 gene loci were genotyped in 1,188 EOT2D and 1,183 normal glucose tolerant subjects using the MassARRAY technology. We confirm the association of the HHEX variant rs1111875 with EOT2D in this South Indian population and also the association of CDKN2A/2B (rs7020996) and TCF7L2 (rs4506565) with EOT2D. Logistic regression analyses of the TCF7L2 variant rs4506565(A/T), showed that the heterozygous and homozygous carriers for allele 'T' have odds ratios of 1.47 (95% confidence interval [CI], 1.17 to 1.83; p = 0.001) and 1.65 (95% CI, 1.18 to 2.28; p = 0.006) respectively, relative to AA homozygote. For the HHEX variant rs1111875 (T/C), heterozygous and homozygous carriers for allele 'C' have odds ratios of 1.13 (95% CI, 0.91 to 1.42; p = 0.27) and 1.58 (95% CI, 1.17 to 2.12; p = 0.003) respectively, relative to the TT homozygote. For CDKN2A/2B variant rs7020996, the heterozygous and homozygous carriers of allele 'C' were protective with odds ratios of 0.65 (95% CI, 0.51 to 0.83; p = 0.0004) and 0.62 (95% CI, 0.27 to 1.39; p = 0.24) respectively, relative to TT homozygote. This is the first study to report on the association of HHEX variant rs1111875 with EOT2D in this population.

• Horticultural Science & Technology
• /
• v.17 no.1
• /
• pp.23-28
• /
• 1999

To examine taxonomic relationships among 53 plums derived from Prunus cerasifera, P. domestica, and P. salicina, principal component analysis (PCA) and cluster analysis on 27 morphological characters were conducted. Of 27 characters, leaf size, leaf shape, and leaf hair were useful characters for plum identification and understanding of taxonomic relationships among them. Leaf length, petiole length, number of leaf nectaries, leaf shape, leaf base, and date of full blooming showed the clear differences between P. salicina group and P. domestica group. Results of cluster analysis using scores of the first three principal components indicated that 53 plums could be grouped into P. salicina-P. cerasifera, P. domestica, and P. spinosa phenon at 1.0 of average distance in UPGMA. Although PCA was useful for rough classification of plums, much more characters were needed for the exact classification.

• Tuberculosis and Respiratory Diseases
• /
• v.53 no.3
• /
• pp.253-264
• /
• 2002

Background : It has been reported that the expression of protein which influences on the cell cycle is significantly involved in the development, progress, treatment response, and survival of cancer, and also that the degree of expression of p27 and CDK4 is related to the prognosis. Recent research has revealed that uteroglobin, tumor suppressor gene, is related to cell cycle. This study is focused on the relations between expression of proteins related to cell cycle and clinical index of and survival of NSCLC. Methods : We examined immunohistochemically specimens of 110 surgically resected NSCLCs for expression of p27, CDK, Uteroglobin. Tissue array slide were obtained from 110 surgically resected NSCLCs. Immunohistochemical staining was performed by immuno-peroxidase technique using avidin-biotinylated horseradish peroxidase complex. Results : In 110 patients with resected NSCLCs, the ratio of male to female was 87:13, the median age was $56.43{\pm}9.41$ yrs. The positive staining of p27 was detected in 75% of the cases. A non-statistically significant trend toward increased p27 expression was observed in smoker and squamous cell cancer. The positive staining of CDK4 was detected in 89%, which was the highest expression of protein among 3 types. The survival ratio of CDK4 negative staining group was higher than that of positive staining group, which was significant diffrernce(P<0.05). There was no association between p27 or uteroglobin expression and survival. Conclusion : The expression degree of CDK4 is related to the prognosis. This findings suggests that the measurement of CDK4 may be useful in identifying patient at high risk for disease recurrence and survival.

• Proceedings of the Botanical Society of Korea Conference
• /
• 2001.04a
• /
• pp.27-27
• /
• 2001