• Title/Summary/Keyword: PGD

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A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD) (착상전 유전진단을 위한 유전상담 현황과 지침개발을 위한 기초 연구)

  • Kim, Min-Jee;Lee, Hyoung-Song;Kang, Inn-Soo;Jeong, Seon-Yong;Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.125-132
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    • 2010
  • Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

Simulation method of ground motion matching for multiple targets and effects of fitting parameter variation on the distribution of PGD

  • Wang, Shaoqing;Yu, Ruifang;Li, Xiaojun;Lv, Hongshan
    • Earthquakes and Structures
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    • v.16 no.5
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    • pp.563-573
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    • 2019
  • When generating spectrum-compatible artificial ground motion in engineering practices, the effect of the variation in fitting parameters on the distribution of the peak ground displacement (PGD) has not yet drawn enough attention. In this study, a method for simulating ground motion matching for multiple targets is developed. In this method, a frequency-dependent amplitude envelope function with statistical parameters is introduced to simulate the nonstationarity of the frequency in earthquake ground motion. Then, several groups of time-history acceleration with different temporal and spectral nonstationarities were generated to analyze the effect of nonstationary parameter variations on the distribution of PGD. The following conclusions are drawn from the results: (1) In the simulation of spectrum-compatible artificial ground motion, if the acceleration time-history is generated with random initial phases, the corresponding PGD distribution is quite discrete and an uncertain number of PGD values lower than the limit value are observed. Nevertheless, the mean values of PGD always meet the requirement in every group. (2) If the nonstationary frequencies of the ground motion are taken into account when fitting the target spectrum, the corresponding PGD values will increase. A correlation analysis shows that the change in the mean and the dispersion values, from before the frequencies are controlled to after, correlates with the modal parameters of the predominant frequencies. (3) Extending the maximum period of the target spectrum will increase the corresponding PGD value and, simultaneously, decrease the PGD dispersion. Finally, in order to control the PGD effectively, the ground motion simulation method suggested in this study was revised to target a specified PGD. This novel method can generate ground motion that satisfies not only the required precision of the target spectrum, peak ground acceleration (PGA), and nonstationarity characteristics of the ground motion but also meets the required limit of the PGD, improving engineering practices.

Role of Alveolar Macrophages in Productions of Prostaglandin D2 and E2 in the Inflamed Lung (프로스타글란딘 D2와 E2의 생성에 대한 허파 마크로파이지의 역할)

  • Joo, Myung-Soo
    • Journal of Life Science
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    • v.20 no.6
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    • pp.845-852
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    • 2010
  • Our previous study showed that lungs infected by Pseudomonas, a gram-negative bacteria, produce prostaglandin $D_2$ ($PGD_2$) and prostaglandin $E_2$ ($PGE_2$), the two major prostanoids generated by cyclooxygenase-2 (COX-2), and that the ratio of $PGD_2$ and $PGE_2$ can affect the outcome of the bacterial lung infection. In this study, we sought to uncover the mechanism that determines the ratio of $PGD_2$ and $PGE_2$ produced in lung inflammation. When treated with lipopolysaccharide (LPS), primary alveolar macrophages, extracted from mouse lung, more $PGE_2$ was produced than $PGD_2$, whereas MH-S, a murine alveolar macrophage cell line, produced more $PGD_2$ than $PGE_2$ in a similar experiment. Western blot analyses showed that the kinetics of COX-2 expression in both cell types is similar and epigenetic silencing of COX-2 expression did not affect expressions of lipocalin-PGD synthase (L-PGDS) and PGE synthase (mPGES-1), major enzymes synthesizing $PGD_2$ and $PGE_2$ in inflammation, respectively, indicating no effect of COX-2 on expressions of the two enzymes. Expressions of L-PGDS and mPGES-1 were also similar in both cell types, suggesting no effect of the two key enzymes in determining the ratio of $PGD_2$ and $PGE_2$ in these cells. A single intraperitoneal injection of LPS to C57BL/6 mice induced COX-2 expression and, similar to alveolar macrophages, produced more $PGE_2$ than $PGD_2$ in the lung. These results suggest that the differential expressions of $PGD_2$ and $PGE_2$ in the lung reflect those in alveolar macrophages and may not be directly determined by the enzymes responsible for $PGD_2$ and $PGE_2$ synthesis.

Peroxisome proliferator-activated receptor γ is essential for secretion of ANP induced by prostaglandin D2 in the beating rat atrium

  • Zhang, Ying;Li, Xiang;Liu, Li-Ping;Hong, Lan;Liu, Xia;Zhang, Bo;Wu, Cheng-Zhe;Cui, Xun
    • The Korean Journal of Physiology and Pharmacology
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    • v.21 no.3
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    • pp.293-300
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    • 2017
  • Prostaglandin $D_2$ ($PGD_2$) may act against myocardial ischemia-reperfusion (I/R) injury and play an anti-inflammatory role in the heart. Although the effect of $PGD_2$ in regulation of ANP secretion of the atrium was reported, the mechanisms involved are not clearly identified. The aim of the present study was to investigate whether $PGD_2$ can regulate ANP secretion in the isolated perfused beating rat atrium, and its underlying mechanisms. $PGD_2$ (0.1 to $10{\mu}M$) significantly increased atrial ANP secretion concomitantly with positive inotropy in a dose-dependent manner. Effects of $PGD_2$ on atrial ANP secretion and mechanical dynamics were abolished by AH-6809 ($1.0{\mu}M$) and AL-8810 ($1.0{\mu}M$), $PGD_2$ and prostaglandin $F2{\alpha}$ ($PGF2{\alpha}$) receptor antagonists, respectively. Moreover, $PGD_2$ clearly upregulated atrial peroxisome proliferator-activated receptor gamma ($PPAR{\gamma}$) and the $PGD_2$ metabolite 15-deoxy-${\Delta}12$, 14-$PGJ_2$ (15d-$PGJ_2$, $0.1{\mu}M$) dramatically increased atrial ANP secretion. Increased ANP secretions induced by $PGD_2$ and 15d-$PGJ_2$ were completely blocked by the $PPAR{\gamma}$ antagonist GW9662 ($0.1{\mu}M$). PD98059 ($10.0{\mu}M$) and LY294002 ($1.0{\mu}M$), antagonists of mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK) and phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt) signaling, respectively, significantly attenuated the increase of atrial ANP secretion by $PGD_2$. These results indicated that $PGD_2$ stimulated atrial ANP secretion and promoted positive inotropy by activating $PPAR{\gamma}$ in beating rat atria. MAPK/ERK and PI3K/Akt signaling pathways were each partially involved in regulating $PGD_2$-induced atrial ANP secretion.

Inactivation of the Wall-Associated De-N-acetylase (PgdA) of Listeria monocytogenes Results in Greater Susceptibility of the Cells to Induced Autolysis

  • Popowska, Magdalena;Kusio, Monika;Szymanska, Paulina;Markiewicz, Zdzislaw
    • Journal of Microbiology and Biotechnology
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    • v.19 no.9
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    • pp.932-945
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    • 2009
  • Several species of Gram-positive bacteria have cell wall peptidoglycan (syn. murein) in which not all of the sugar moieties are N-acetylated. This has recently been shown to be a secondary effect, caused by the action of a peptidoglycan N-acetylglucosamine deacetylase. We have found that the opportunistic pathogen Listeria monocytogenes is unusual in having three enzymes with such activity, two of which remain in the cytoplasm. Here, we examine the enzyme (PgdA) that crosses the cytoplasmic membrane and is localized in the cell wall. We purified a hexa-His-tagged form of PgdA to study its activity and constructed a mutant devoid of functional Lmo0415 (PgdA) protein. L. monocytogenes PgdA protein exhibited peptidoglycan N-acetylglucosamine deacetylase activity with natural substrates (peptidoglycan) from both L. monocytogenes and Escherichia coli as well as the peptidoglycan sugar chain component N-acetylglucosamine, but not with N-acetylmuramic acid. As was reported recently [6], inactivation of the structural gene was not lethal for L. monocytogenes nor did it affect growth rate or morphology of the cells. However, the pgdA mutant was more prone to autolysis induced by such agents as Triton X-100 and EDTA, and is more susceptible to the cationic antimicrobial peptides (CAMP) lysozyme and mutanolysin, using either peptidoglycan muramidases or autolysis-inducing agents. The pgdA mutant was also slightly more susceptible than the wild-type strain to the action of certain beta-lactam antibiotics. Our results indicate that protein PgdA plays a protective physiological role for listerial cells.

Response Analysis of Buried Pipelines Considering Longitudinal Permanent Ground Deformation (종방향 영구지반변형에 의한 매설관로의 거동 특성 해석)

  • 김태욱
    • Proceedings of the Earthquake Engineering Society of Korea Conference
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    • 2000.10a
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    • pp.184-191
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    • 2000
  • In this research, a numerical model is developed for analysis of buried pipelines considering longitudinal permanent ground deformation(PGD) due to liquefaction induced lateral spreading. Buried pipelines and surrounding soil are medeled as continuous pipelines using the beam elements and a series of elasto-plastic springs uniformly distributed along the pipelines, respectively. Idealized various PGD patte군 based on the observation of PGD are used as a loading configuration and the length of the lateral spread zone is considered as a loading parameter. Numerical results are verified with other research results and efficient applicability of developed procedure is shown. Analyses are performed by varying different parameters such as PGD pattern, pipe diameter and pipe thickness. Results show that response of buried pipelines are more affected by pipe thickness than pipe diameter. Finally, the critical length of the lateral spread zone and the critical magnitude of PGD which cause yielding, local buckling or tension failure are proposed for the steel pipe which are normally used in Korea.

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Preimplantation Genetic Diagnosis in Inborn Error Metabolic Disorders (유전성 대사질환의 착상전 유전진단)

  • Kang, Inn Soo
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.94-107
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    • 2005
  • Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

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Crystal Structures of 6-Phosphogluconate Dehydrogenase from Corynebacterium glutamicum

  • Hyeonjeong Yu;Jiyeon Hong;Jihye Seok;Young-Bae Seu;Il-Kwon Kim;Kyung-Jin Kim
    • Journal of Microbiology and Biotechnology
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    • v.33 no.10
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    • pp.1361-1369
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    • 2023
  • Corynebacterium glutamicum (C. glutamicum) has been considered a very important and meaningful industrial microorganism for the production of amino acids worldwide. To produce amino acids, cells require nicotinamide adenine dinucleotide phosphate (NADPH), which is a biological reducing agent. The pentose phosphate pathway (PPP) can supply NADPH in cells via the 6-phosphogluconate dehydrogenase (6PGD) enzyme, which is an oxidoreductase that converts 6-phosphogluconate (6PG) to ribulose 5-phosphate (Ru5P), to produce NADPH. In this study, we identified the crystal structure of 6PGD_apo and 6PGD_NADP from C. glutamicum ATCC 13032 (Cg6PGD) and reported our biological research based on this structure. We identified the substrate binding site and co-factor binding site of Cg6PGD, which are crucial for understanding this enzyme. Based on the findings of our research, Cg6PGD is expected to be used as a NADPH resource in the food industry and as a drug target in the pharmaceutical industry.

Response Analysis of Buried Pipeline Subjected to Longitudinal Permanent Ground Deformation (종방향 영구지반변형에 대한 지중 매설관로의 거동특성 해석)

  • 김문겸;임윤묵;김태욱;박종헌
    • Journal of the Earthquake Engineering Society of Korea
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    • v.6 no.2
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    • pp.51-61
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    • 2002
  • In this research, a numerical algorithm is developed for the response analysis of burined pipelines considering longitudinal permanent ground deformation(PGD) due to liquefaction induced lateral spreading. Buried pipelines and surrounding soil are modeled as continuous pipelines using the beam elements and a series of elasto-plastic springs represented for equivalent soil stiffness, respectively. Idealized various PGD patterns based on the observation of PGD are used as a loading configuration and the length of the lateral spread zone is considered as loading parameter. Numerical results are verified with other research results and efficient applicability of developed procedure is shown. Analyses are performed by varying different parameters such as PGD pattern, pipe diameter and pipe thickness. Through these procedures, relative influences of various parameters on the response of buried pipeline subject to longitudinal PGD are investigated.

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease

  • Lee, Hyoung-Song;Kim, Min Jee;Ko, Duck Sung;Jeon, Eun Jin;Kim, Jin Young;Kang, Inn Soo
    • Clinical and Experimental Reproductive Medicine
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    • v.40 no.4
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    • pp.163-168
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    • 2013
  • Objective: Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of multiplex fluorescent polymerase chain reaction (PCR) followed by fragment analysis or sequencing using single lymphocytes. We performed six cycles of PGD for CMT1A and one cycle for CMT2F. Results: Two duplex and two triplex protocols were developed according to the available markers for each CMT1A couple. Depending on the PCR protocols, the amplification rates and ADO rates ranged from 90.0% to 98.3% and 0.0% to 11.1%, respectively. For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. In case of CMT1A, 60 out of 63 embryos (95.2%) were diagnosed and 13 out of 21 unaffected embryos were transferred in five cycles. Two pregnancies were achieved and three babies were delivered without any complications. In the case of CMT2F, a total of eight embryos were analyzed and diagnosed. Seven embryos were diagnosed as unaffected and four embryos were transferred, resulting in a twin pregnancy. Two healthy babies were delivered. Conclusion: This is the first report of successful pregnancy and delivery after specific PGD for CMT disease in Korea. Our PGD procedure could provide healthy babies to couples with a high risk of transmitting genetic diseases.