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Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

  • Seo, Yeon Jeong;Lee, Ko Eun;Ko, Jung Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.44-48
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    • 2015
  • Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

A Study on the Selection of Distribution Center in the City Using GIS: With Seoul as the center (GIS를 활용한 도심 물류센터 거점 선정을 위한 연구: 서울시를 중심으로)

  • Jun, In-Sung;Ahn, Seung-Bum;Yun, Kyong-Jun
    • Journal of Korea Port Economic Association
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    • v.40 no.1
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    • pp.71-85
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    • 2024
  • Due to the impact of COVID-19 in 2020, online growth is increasing more rapidly, and the need for MFCs has become important to strengthen the Last Mile service, especially in Gangnam and Seocho, where population density is high. This study analyzed MFC operation case studies using Arc GIS (Geographic Information System), and in the case of Seoul, delivery to four MFC bases is not possible within 30 minutes, and for delivery within 30 minutes, it is necessary to secure MFC bases in areas with many consumers. As a result of the analysis, it was confirmed that two to three MFC operating bases are needed for each region based on Seoul Metropolitan Government and at least one base for each administrative district depending on the delivery service after ordering.

Effects of on-the-job Training for Health Extension Workers in Tigray, Ethiopia: A Pilot Study (에티오피아 일개 지역 보건지소 건강관리요원에 대한 직무교육의 효과)

  • Bang, Kyung-Sook;Lee, Insook;Chae, Sun-Mi;Kang, Hyunju;Yu, Juyoun;Park, Ji-Sun
    • Korean Parent-Child Health Journal
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    • v.16 no.1
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    • pp.11-16
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    • 2013
  • Purpose: Ethiopia is one of the sub-Saharan countries most affected by high maternal and infant mortality. The government has trained health extension workers (HEWs), the community health workers, to deliver preventive and basic curative health services to community residents in Ethiopia. Very few studies have investigated on-the-job educational effects for HEWs on improvement of their knowledge and performance confidence in maternal and child health care (MCH). This study aimed at identifying the educational effects for HEWs in one health center in Tigray, Ethiopia on improvement of their knowledge in MCH. Methods: Twelve HEWs from 6 health posts participated in this study. A health center officer provided a total of 5 educational sessions on antenatal and postnatal care, family planning, and newborn care from August, 2012 to April, 2013. Ten to 12 items regarding the topics were tested before and after each education. Wilcoxon signed rank test was used to analyze the data. Results: All the HEWs were female with average 4-year working experience. Their knowledge significantly increased after education, except the first session. Their satisfaction on education was greater than 45 points out of 50. Conclusion: This study suggests a focused education for HEWs should continue to improve their capacity on MCH.

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A case of amebiasis in the newborn period (신생아에서 나타난 아메바증 1례)

  • Park, Ji Young;Bae, Seung Young;Kim, Dong Hwan;Choi, Chang Hee;Cho, Eun Young;Choi, Jeong Hoon;Kim, Sun Mi
    • Pediatric Infection and Vaccine
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    • v.14 no.1
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    • pp.111-115
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    • 2007
  • Entamoeba histolytica (E. histolytica) is a worldwide protozoan parasite causing a wide rage of intestinal disease in human, including asymptomatic cyst carriage, acute diarrhea, fulminant dysentery, and chronic nondysenteric colitis. Extraintestinal amebiasis such as hepatic abscess also occurs. Spread of the infection occurs due to consumption of food and water that is contaminated with the cyst. Amebiasis is rarely reported in the newborn period. We report a case of a 6-day-old female newborn with watery diarrhea that progressed to bloody mucoid diarrhea with persistent fever. The fresh stool microscopic examination disclosed E. histolytica trophozoites. She was born of spontaneous vaginal delivery at 41 weeks of gestation after premature rupture of membrane. She was given breast-feeding after birth, then entered postpartum care center. Her mother's stool microscopic examination showed negative result. Infection might have occurred from giving sweetened water following birth or contamination of the baby's bottles at the postpartum care center. She was treated with oral metronidazole for 24 days.

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Schizandra chinensis Alkaloids Inhibit Lipopolysaccharide-Induced Inflammatory Responses in BV2 Microglial Cells

  • Choi, Min-Sik;Kwon, Kyung-Ja;Jeon, Se-Jin;Go, Hyo-Sang;Kim, Ki-Chan;Ryu, Jae-Ryun;Lee, Jong-Min;Han, Seol-Heui;Cheong, Jae-Hoon;Ryu, Jong-Hoon;Bae, Ki-Hwan;Shin, Chan-Young;Ko, Kwang-Ho
    • Biomolecules & Therapeutics
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    • v.17 no.1
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    • pp.47-56
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    • 2009
  • Schizandra chinensis (S. chinensis) exhibits a harmless, 'adaptogen-type' effect leading to improvements in mental performance and learning efficacy in brain. Activated microglia contributes to neuronal injury by releasing neurotoxic products, which make it important to regulate microglial activation to prevent further cytological as well as functional brain damage. However, the effect of S. chinensis on microglial activation has not been examined yet. We have investigated the effects of four compounds (Gomisin A, Gomisin N, Schizandrin and Schizandrol A) from S. chinensis on lipopolysaccharide (LPS)-induced microglial activation. In this study, BV2 microglial cells were activated with LPS and the microglial activation was assessed by up-regulation of activation markers such as nitric oxide (NO), reactive oxygen species (ROS), and matrix metalloproteinase-9 (MMP-9). The results showed that all four compounds significantly reduced the intracellular level of ROS, the release of NO and MMP-9 as well as LPS-induced phosphorylation of ERK1/2. These results strongly suggested that S. chinensis may be useful to modulate inflammation-mediated brain damage by regulating microglial activation.

Fabrication and Characterization of New Glass Wasteforms for Radioactive Iodine Immobilization

  • Kang, Min-Ji;Kim, Miae;Hong, Kyong-Soo
    • Proceedings of the Korean Radioactive Waste Society Conference
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    • 2019.05a
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    • pp.229-230
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    • 2019
  • We fabricated three $AgI-Ag_2O-B_2O_3$ glasses with different compositions. As a result, two specimens appeared in amorphous phases and one in a crystalline phase. The prepared glasses in this study are considered as one candidate of immobilizing matrices for $^{129}I$.

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Bone Formation Effect of the RGD-bioconjugated Mussel Adhesive Proteins Composite Hydroxypropyl Methylcellulose Hydrogel Based Nano Hydroxyapatite and Collagen Membrane in Rabbits

  • Kim, Dong-Myong;Kim, Hyun-Cho;Yeun, Chang-Ho;Lee, Che-Hyun;Lee, Un-Yun;Lim, Hun-Yu;Chang, Young-An;Kim, Young-Dae;Choi, Sung-Ju;Lee, Chong-Suk;Cha, Hyung Joon
    • Journal of Marine Bioscience and Biotechnology
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    • v.7 no.2
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    • pp.58-70
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    • 2015
  • Injectable RGD-bioconjugated Mussel Adhesive Proteins (RGD-MAPs) composite hydroxypropyl methylcellulose (HPMC) hydrogels provide local periodontal tissue for bone filling in periodontal surgery. Previously we developed a novel type of injectable self-supported hydrogel (2 mg/ml of RGD-MAPs/HPMC) based porcine nano hydroxyapatite (MPH) for dental graft, which could good handling property, biodegradation or biocompatibility with the hydrogel disassembly and provided efficient cell adhesion activity and no inflammatory responses. Herein, the aim of this work was to evaluate bone formation following implantation of MPH and collagen membrane in rabbit calvarial defects. Eight male New Zealand rabbits were used and four circular calvarial defects were created on each animal. Defects were filled with different graft materials: 1) collagen membrane, 2) collagen membrane with MPH, 3) collagen membrane with bovine bone hydroxyapatite (BBH), and 4) control. The animals were sacrificed after 2 and 8 weeks of healing periods for histologic analysis. Both sites receiving MPH and BBH showed statistically increased augmented volume and new bone formation (p < 0.05). However, there was no statistical difference in new bone formation between the MPH, BBH and collagen membrane group at all healing periods. Within the limits of this study, collagen membrane with MPH was an effective material for bone formation and space maintaining in rabbit calvarial defects.

Utility of Integrated Analysis of Pharmacogenomics and Pharmacometabolomics in Early Phase Clinical Trial: A Case Study of a New Molecular Entity

  • Oh, Jaeseong;Yi, Sojeong;Gu, Namyi;Shin, Dongseong;Yu, Kyung-Sang;Yoon, Seo Hyun;Cho, Joo-Youn;Jang, In-Jin
    • Genomics & Informatics
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    • v.16 no.3
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    • pp.52-58
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    • 2018
  • In this report, we present a case study of how pharmacogenomics and pharmacometabolomics can be useful to characterize safety and pharmacokinetic profiles in early phase new drug development clinical trials. During conducting a first-in-human trial for a new molecular entity, we were able to determine the mechanism of dichotomized variability in plasma drug concentrations, which appeared closely related to adverse drug reactions (ADRs) through integrated omics analysis. The pharmacogenomics screening was performed from whole blood samples using the Affymetrix DMET (Drug-Metabolizing Enzymes and Transporters) Plus microarray, and confirmation of genetic variants was performed using real-time polymerase chain reaction. Metabolomics profiling was performed from plasma samples using liquid chromatography coupled with quadrupole time-of-flight mass spectrometry. A GSTM1 null polymorphism was identified in pharmacogenomics test and the drug concentrations was higher in GSTM1 null subjects than GSTM1 functional subjects. The apparent drug clearance was 13-fold lower in GSTM1 null subjects than GSTM1 functional subjects (p < 0.001). By metabolomics analysis, we identified that the study drug was metabolized by cysteinylglycine conjugation in GSTM functional subjects but those not in GSTM1 null subjects. The incidence rate and the severity of ADRs were higher in the GSTM1 null subjects than the GSTM1 functional subjects. Through the integrated omics analysis, we could understand the mechanism of inter-individual variability in drug exposure and in adverse response. In conclusion, integrated multi-omics analysis can be useful for elucidating the various characteristics of new drug candidates in early phase clinical trials.

Cation Deficiencies in Needles and Fine Roots of Pitch Pine in Seoul Metropolitan Area (首都圈地域에서 리기다소나무 잎과 잔뿌리 속의 陽이온 부족)

  • Rhyu, Tae-Cheol;Kim, Kee-Dae;Kim, Joon-Ho
    • The Korean Journal of Ecology
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    • v.17 no.3
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    • pp.277-286
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    • 1994
  • The contents of major elements were determined in current-year and previous-year needles and fine roots of pitch pine (Pinus yzgida) at 33 sites in Seoul and its vicinity. Contrary to Ca and Al in needles, N, P, Mg and K contents in current-year needles were higher than those in previous-year needles. The N, P, K and Al contents in current-year needles in Seoul were not significantly different from those in rural areas. In contrast, Ca and Mg contents in needles in Seoul were significantly lower than those in suburbs and rural areas. The N /Ca and N /Mg ratios in needles in urban Seoul were higher than those in rural areas. Mg contents in fine roots in soil of 0-5 cm depth increased along with distance from the center of Seoul, while Al contents in fine root in soil of 5-10 cm depth decreased along with distance from the center of Seoul. Al contents in fine roots in soil layer in Seoul and suburbs were higher than those in rural areas. Al contents in fine roots in litter layer were 1 /3 - 1 /2 times lower than those in soil layer for all areas. A1 content in fine roots in deep soil was higher than that in top soil. Therefore growth decline of pitch pine in Seoul and suburbs was thought to be caused by Ca and Mg deficiency in plant tissues and Al toxicity to fine roots. Abnormal vertical distribution of fine roots of pitch pine in Seoul and its vicinity were interpreted as the result of growth reduction of fine roots by Al toxicity in deep layer of acid soil.

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