• Clinical and Experimental Reproductive Medicine
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• v.49 no.3
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• pp.210-214
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• 2022

Objective: Platelet-rich plasma (PRP) therapy has received a considerable attention as an adjunct to fertility treatments, especially in women with very low ovarian reserve and premature ovarian insufficiency. Although recent studies have demonstrated that PRP led to improvements in folliculogenesis and biomarkers of ovarian reserve, the effect of intraovarian PRP administration on embryo genetics has not been studied. Methods: We report a pilot study of patients who had preimplantation genetic testing for aneuploidy (PGT-A) before and then within 3 months following PRP administration. Twelve infertile women with at least one prior failed in vitro fertilization (IVF) cycle underwent ovarian stimulation (cycle 1) with a gentle stimulation protocol and PGT-A performed at the blastocyst stage. Following cycle 1, autologous intraovarian PRP administration was performed. Within 3 months following PRP administration, the patients underwent cycle 2 and produced blastocysts for PGT-A. The percentage of euploid embryos between both cycles was compared. Results: The mean age of all participants was 40.08±1.46 years, and their mean body mass index was 26.18±1.18 kg/m². The number of good-quality embryos formed at the blastocyst stage was similar between cycle 1 and cycle 2 (3.08±0.88 vs. 2.17±0.49, respectively; p=0.11). Among all patients in cycle 1, 3 of 37 embryos were euploid (8.11%) while in cycle 2, 11 out of 28 embryos were euploid (39.28%, p=0.002). Three clinical pregnancies were noted among this patient group. Conclusion: This novel study is the first to present an improvement in the embryo euploidy rate following intraovarian PRP application in infertile women with prior failed IVF cycles. The growth factors present in PRP may exhibit a local paracrine effect that could improve meiotic aberrations in human oocytes and thus improve euploidy rates. Whether PRP improves live birth rates and lowers miscarriage rates remains to be determined in large trials.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Journal of Korean Physical Therapy Science
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• v.8 no.1
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• pp.745-758
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• 2001

The purpose of study to phenomenological examine and the mechanism regarding the gene(DNA, RNA, Protein) and sports to studied, analyzed. and evaluated. This review considers the evidence for genetic effects in several determinants of endurance performance and resistance performance, namely: body measurements and physique, body fat pulmonary functions, cardiac and circulatory functions, muscle characteristics. substrate utilization, maximal aerobic power and other. Moreover, the response to aerobic training of indicators aerobic work metabolism and endurance performance is reviewed, with emphasis on the specificity of the response and the individual differences observed in training ability. This study indicate that improvement of 'Enhancer Action' in RNA genes changed by exercise or sports. Moreover exercise was effect on Central Dogma with DNA makes RNA makes Protein. and think that occurred with exercise influence on skeletal muscle into cell have to Myosin Heavy Chain (MHC) changed was after exercise performance, which accompanied into skeletal muscle that were exercise-induces gene-modulation that is, take gene mutations. This study known that existed hormone(epinephrine)-immune system with interaction. Exercise were altered insulin binding and MAP Kinase signaling increased into immune cells. This review suggested that the high rate of glutamine utilization by cells of the immune system serves to maintain a high intra cellular concentration of the intermediates of biosynthetic pathways such that optimal rates of DNA, RNA and protein synthesis can be maintained. In the absence of glutamine, lymphocytes do not proliferate in vitro: proliferation increase greatly as the glutamine concentration increase. Glutamine is synthesized in skeletal muscle. Skeletal muscle and plasma glutamine levels are lowered by sepsis, injury, bums, surgery and endurance exercise and in the overtrained athlete. The study of result show that production of ET-1 is markedly increased tissue specifically in the heart by exercise without appreciable changes in endothelin-converting enzyme and endothelial receptor expressions, suggest that myocardial ET-1 may participate in modulation of cardiac function during exercise. Conclusionally, this study indicate that improvement of 'Enhancer Action' in RNA genes changed by exercise or sports. Moreover exercise was effect on Central Dogma with DNA makes RNA makes Protein. This study is expected to contribute the area of sports science, medicine, hereafter more effort is required to establish the relation between gene alters and exercise amount.

• Journal of radiological science and technology
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• v.34 no.1
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• pp.59-64
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• 2011

We investigated the radiation exposure caused by DIPS, which is used to identify accurate repositioning and tumor location in pediatric cancer patients proton therapy. To compare and analyze DIPS condition, 50 pediatric cancer patients who underwent proton therapy were selected in Ilsan K cancer-specialized hospital from March 2007 to October 2009. For DIP exposure, 0.09~1.57 mGy is measured in AP and lateral directions and 23.55 mGy is measured in CSI patients. In whole brain patient, the amount of a day DIP exposure dose was 1.13 mGy. During treatment period, who exposed the biggest DIP dose are whole brain patients, 632.71 mGy is exposed. It is 1.13% of prescribed dose, represented dose is adequate because it is not exceeded 2% of recommended dose. Even though the exposed dose is not exceeded more than 2% of prescribed in DIP exposure, we should recognize the radiation damage and genetic influences to pediatric cancer patients, who is much sensitive to radiation and has longer mean residual life time. Therefore, DIPS guideline for pediatric cancer patients should be indicated to minimize the radiation exposure.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.10 no.1
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• pp.43-46
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• 2014

Cerebral Palsy is a genetic term referring to abnormalities of motor control caused by damage to a child's brain early in the course of development. Due to the impairment of balanced perioral muscle development, the prevalence of malocclusions in patients with cerebral palsy such as maxillary protrusion is high. But most clinicians may feel uncomfortable to treatment of these problems. Here a case report about mitigation of maxillary anterior teeth protruded in patient with cerebral palsy. 8y 4m old boy who have cerebral palsy visited our dental hospital. He showed severely protrusive maxillary anterior teeth with mouth breathing and could not close his mouth. He and his mother wanted to improve dental and facial esthetic problem. Specially designed or modified intraoral fixed appliance and rubber elastic chain was used in the therapy. Treatment carried out for 8 months and we could observe maxillary incisor angle was improved and mouth breathing habit was stopped. In conclusion, modified fixed appliance therapy for the patients with cerebral palsy might be useful. Continuous rehabilitation training of lips should be followed after treatment to correct imbalance of muscle tone.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1919-1924
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• 2015

Polymorphisms in the region of the interleukin IL-28 gene on chromosome 19 have been related with clearance of hepatitis C virus (HCV), a major human pathogen responsible for chronic hepatitis, cirrhosis and hepatocellular carcinoma. About 3% of the world's population is infected with HCV. The long-term response to therapy is influenced by many host and viral factors, and recent evidence has indicated that some host genetic polymorphisms related to IL-28 are the most powerful predictors of virological response in patients with HCV. This study assessed frequency of the IL-28 polymorphism (rs8099917) in 50 patients (39 men and 11 women) with chronic hepatitis C using ZNA probe real time PCR new method. All patients were tested for genotype of HCV and the HCV viral load. In parallel, the levels of SGOT, SGPT and ALK enzymes were assessed. Treatment using Peg-interferon alpha with ribavirin was conducted for patients and subsequently samples were collected to detect any change in viral load or liver enzyme rates. The overall frequency of the TT allele is 74%, TG allele 20% and GG allele 6% and the percent of patients who had T allele was 84%. Clear reduction in viral load and liver enzymes was reported in patients with the T allele. Especially for genotype 1 which is relatively resistant to treatment, these alleles may have a role in this decline. In conclusion, we showed that IL-28 polymorphism rs8099917 strongly predicts virological response in HCV infection and that real-time PCR with Zip nucleic acid probes is a sensitive, specific and rapid detection method for detection of SNPs which will be essential for monitoring patients undergoing antiviral therapy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.7-11
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• 2008

Hemophilia is a group of gender-linkage inherited bleeding disorders that impair the body's ability to control blood clotting or coagulation. This sex-linked disorder is transmitted on the X chromosome. These genetic disorders have lower blood plasma clotting factor level of coagulation factor. Most common form is Hemophilia A and B. Restorative dental care and simple surgery for the hemophiliac patient are quite often neglected for fear of bleeding during procedures. Even dental specialist avoid these patients and make them severe problem patients. On the dental treatment especially, invasive procedure, special considerations of bleeding control are required. Inter-consultation with the hematologist will provide orientation on the best approach to dental treatment, such as the need of replacement therapy, the modification of antifibrinolytic therapy, the application of local hemostatic methods. In this case reports, we successfully treat early childhood caries of patient with hemophilia B under the general anesthesia.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.11 no.9
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• pp.3390-3397
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• 2010

The purpose of this study was to evaluate the validity and utility of the Korean-Ages and Stages Questionnaires(K-ASQ) as a screening tool for detecting developmental delay of preschool child in community. Informed consents from parents of 229 children were received for the process of the study. The subjects were 229 parents and the children of three to five years old who did not have reported genetic diseases or developmental delays. The result of this study, validity were calculated for the K-ASQ sensitivity 0.41%, specificity 0.76%, hyper-referral 0.14%, hypo-referral 0.21%. Predictive value of delayed development were K-ASQ 0.70% and that of normal development were K-ASQ 0.77%. K-ASQ can be feasibly used in the setting of health clinic and be the highly predictive criteria for delayed development and normal development.

• Journal of Microbiology and Biotechnology
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• v.11 no.3
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• pp.524-528
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• 2001

The measurement of radiation response using simple and informative techniques would be of great value in studying the genetic risk following occupational, therapeutic, or accidental exposure to radiation. When patients receive radiation therapy, many suffer from side effects. Since each patient receives a different dose due to different physical conditions, it is important to measure the exact dose of radiation received by each patient to lessen the side effects. Even though several biological dosimetric systems have already been developed, there is no ideal system that can satisfy all the criteria for an idean dosimetric system, especially for low-dose radiation as used in radiation therapy. In this study, an SOS Chromotest of E. coli PQ37 was evaluated as a novel dosimeter for low-dose gamma-rays. E. coli PQ37 was originally developed to screen chemical mutagens using the SOS Chromotest-a colorimtric assay, based on the induction of ${\beta}$-galactosidase ue to DNA damage. The survival fraction of E. coli PQ37 decreased dose-dependently with an increasing dose of cobalt-60 gamma-rays. Also, a good linear correlation was found between the biological damage revealed by the ${\beta}$-galactosidase expression and the doses of gamma-rays. The expression of ${\beta}$-galactosidase activity that responded to low-dose radiation under 1 Gy was $Y=0.404+(0.089{\pm}0.3)D+(-0.018{\pm}0.16)D^2$ (Y, absorbance at 420 nm; D, Dose of irradiation) as calculated using Graph Pad In Plot and Excel. When a rabbit was fed with capsules containing an agar block embdded with E. coli PQ37 showed a linear response to the radiation doses. Accordingly, the results confirm that E. coli PQ37 can be used as a sensitive biological dosimeter fro cobalt-60 gamma-rays. To the best of our knowledge, this is the first time that a bacterium has been used as a biological dosimeter, especially for low-dose radiation.

• Proceedings of the Polymer Society of Korea Conference
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• 2006.10a
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• pp.44-45
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• 2006

Gene therapy holds great promise for treating various forms of diseases with a genetic origin including cystic fibrosis, different forms of cancer, and cardiovascular disorders. The clinical use of gene therapy treatments is however restricted, mainly because of the absence of safe and efficient gene delivery technologies. In our group, with an aim of developing efficient and nontoxic polymeric gene delivery systems, several novel types of polymeric gene carriers have been designed, synthesized, and evaluated. Herein, I will mainly present our recent work on low molecular weight linear PEI-PEG-PEI triblock copolymers, degradable hyperbranched poly(ester amine)s, and reduction-sensitive poly(amido amine)s.