• Title/Summary/Keyword: Syndrome Identification

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Utilizing cell-free DNA to validate targeted disruption of MYO7A in rhesus macaque pre-implantation embryos

  • Junghyun Ryu;Fernanda C. Burch;Emily Mishler;Martha Neuringer;Jon D. Hennebold;Carol Hanna
    • Journal of Animal Reproduction and Biotechnology
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    • v.37 no.4
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    • pp.292-297
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    • 2022
  • Direct injection of CRISPR/Cas9 into zygotes enables the production of genetically modified nonhuman primates (NHPs) essential for modeling specific human diseases, such as Usher syndrome, and for developing novel therapeutic strategies. Usher syndrome is a rare genetic disease that causes loss of hearing, retinal degeneration, and problems with balance, and is attributed to a mutation in MYO7A, a gene that encodes an uncommon myosin motor protein expressed in the inner ear and retinal photoreceptors. To produce an Usher syndrome type 1B (USH1B) rhesus macaque model, we disrupted the MYO7A gene in developing zygotes. Identification of appropriately edited MYO7A embryos for knockout embryo transfer requires sequence analysis of material recovered from a trophectoderm (TE) cell biopsy. However, the TE biopsy procedure is labor intensive and could adversely impact embryo development. Recent studies have reported using cell-free DNA (cfDNA) from embryo culture media to detect aneuploid embryos in human in vitro fertilization (IVF) clinics. The cfDNA is released from the embryo during cell division or cell death, suggesting that cfDNA may be a viable resource for sequence analysis. Moreover, cfDNA collection is not invasive to the embryo and does not require special tools or expertise. We hypothesized that selection of appropriate edited embryos could be performed by analyzing cfDNA for MYO7A editing in embryo culture medium, and that this method would be advantageous for the subsequent generation of genetically modified NHPs. The purpose of this experiment is to determine whether cfDNA can be used to identify the target gene mutation of CRISPR/Cas9 injected embryos. In this study, we were able to obtain and utilize cfDNA to confirm the mutagenesis of MYO7A, but the method will require further optimization to obtain better accuracy before it can replace the TE biopsy approach.

Comparison of the mental health, metabolic syndrome and nutrient intake by Gender in Problem drinkers ; Based on The Fifth(2010-2012) Korean National Health and Nutrition Examination Survey (성별에 따른 문제음주자의 정신건강, 대사증후군과 영양소 섭취; 제 5기(2010-2012) 국민건강 영양조사를 중심으로)

  • Choi, Young -Sil
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.15 no.8
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    • pp.5159-5168
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    • 2014
  • The study examined the relationship among metal health, metabolic syndrome and nutrient acceptance according to gender. Implemented until 2010-2012, the 5th Korean National Health and Nutrition Examination Survey, as an original document, was used for the study. The target was problem drinkers with more than 12 points under AUDIT. Regarding mental health, it was classified into stress, depression and suicidal impulse. Metabolic syndrome was defined when three causes of BMI, waist circumference, FBS, HDL and BP were out of the normal range. The nutrient intake was obtained to confirm the energy intake of nine non-nutrients (Nutrient adequacy ratio: NAR) and the proper intake of the average non-nutrient (Mean adequacy ratio: MAR). These variables were analyzed by frequency, cross analysis and multiple regression analysis through SPSS18.0. In the general features, there was a significant difference according to age, occupation and marital status. In mental health, stress, depression and suicidal impulse were examined. Metabolic syndrome was dependant on FBS, HDL and BP. The nutrient acceptance depended on calcium, vitamin A, thiamine, riboflavin, niacin, vitamin C, and MAR. Logistic regression analysis performed on the variables showed significant differences. Stress, depression, and thoughts of suicide was significantly higher in men aged 19-29 years, and women aged 30-49 years. In the case of the male, those who employed have metabolic syndrome more than those who unemployed. In terms of female, those who were belonged into the middle - low economic level have undergone with metabolic syndrome. In the part of a Mean adequacy ratio(MAR), the male who unmarried, employed, were in the middle low economic levelwere higher. In the case of the female, it was higher for those who were in the middle - low economic level. Overall, an effective way of planning the solution regarding mental health, metabolic syndrome and nutrient intake can be found by considering these features.

Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases (FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰)

  • Kang, Jin-Hee;Lee, Sook-Hwan;Park, Sang-Hee;Park, Ji-Hyun;Kim, Ji-Youn;Han, Won-Bo;Kim, In-Hyun;Park, Sang-Won;Jang, Jin-Beum;Lee, Kyoung-Jin;Park, Hee-Jin;Jun, Hye-Sun;Lee, Kyung-Ju;Shin, Joong-Sik;Cha, Dong-Hyun
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.64-71
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    • 2007
  • Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

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Identification of a Novel Small Molecule Inhibitor Against SARS Coronavirus Helicase

  • Cho, Jin-Beom;Lee, Jin-Moo;Ahn, Hee-Chul;Jeong, Yong-Joo
    • Journal of Microbiology and Biotechnology
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    • v.25 no.12
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    • pp.2007-2010
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    • 2015
  • A new chemical inhibitor against severe acute respiratory syndrome (SARS) coronavirus helicase, 7-ethyl-8-mercapto-3-methyl-3,7-dihydro-1H-purine-2,6-dione, was identified. We investigated the inhibitory effect of the compound by conducting colorimetry-based ATP hydrolysis assay and fluorescence resonance energy transfer-based double-stranded DNA unwinding assay. The compound suppressed both ATP hydrolysis and double-stranded DNA unwinding activities of helicase with IC50 values of 8.66 ± 0.26 μM and 41.6 ± 2.3 μM, respectively. Moreover, we observed that the compound did not show cytotoxicity up to 80 μM concentration. Our results suggest that the compound might serve as a SARS coronavirus inhibitor.

Identification of a Cellular Protein Interacting with Murine Retrovirus Gag Polyproteins

  • Choi, Wonja
    • Journal of Microbiology
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    • v.34 no.4
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    • pp.311-315
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    • 1996
  • The retroviral Gag polyprotein directs the assembly of virion particles and plays an important role in some events after entry into a host cell. The Gag polyprotein of a virus mixture is responsible for inducing murine acquired immunodeficiency syndrome (MAIDS) when injected into susceptible strains of mice. In order to identify the host cellular proteins which interact with the MAIDS virus Gag proteins and possibly mediate the function of the Gag proteins, mouse T-cell leukemic cDNA expression library was screened using the yeast GAL4 two hybrid system. Of 11 individual positive clones, the clone Y1 was selected for the study of protein-protein interaction. Its DNA sequence revealed that it was an exact match to the murine SH3 domain-containing protein SH3P8. It is expressed as 2.4 kbp transcripts in testis at higher levels and in various tissues tested at lower levels. Glutathione S-transferase-Y1 fusion protein binds tightly to $Pr60^{def-gag}$ as well as $Pr65^{eco-gag}$.

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Identification of porcine circoviruses with genetic variation from lymph nodes collected in pigs with PMWS

  • Lyoo, Young S.;Kim, Jin-hyun;Park, Choi-kyu
    • Korean Journal of Veterinary Research
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    • v.39 no.2
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    • pp.353-358
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    • 1999
  • New emerging post weaning multisystemic wasting syndrome (PMWS) threatening swine industry worldwide and investigation of the etiological agent is underway. The porcine circovirus (PCV) consistently identified from PMWS pigs and research result indicate that there is strong relationship between PCV and PMWS. Fauns with PMWS submitted pigs suffered from various PMWS typical signs and necropsy finding showed lymph node anomalies. The PCV DNA was amplified from inguinal lymph node collected from pigs with PMWS. PCV specific primers were successfully amplified PCV DNAs and were able to differentiate PCV type I and II. We have identified noble PCV virus with genetic variation. The virus showed insertion of the nucleic acid at the 5' of the genome but did not have PCR product with primer set corresponding to PCV type II virus.

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Upper Airway Studies in Patients with Obstructive Sleep Apnea Syndrome (폐쇄성 수면 무호흡증 환자의 상기도 검사법)

  • Kim, Jung-Soo;Lee, Kyu-Yup
    • Sleep Medicine and Psychophysiology
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    • v.11 no.1
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    • pp.5-9
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    • 2004
  • Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent cessation of breathing due to complete or partial upper airway occlusion during sleep. The incompetent tone of palatal, pharngeal, and glossal muscles which fail to maintain airway patency during sleep causes narrowing of the airway dimension and increased resistance of breathing. The identification of the sites of upper airway obstruction in patients with OSA is important in understanding the pathogenesis and deciding the treatment modality of snoring and/or OSA. Various upper airway imaging modalities have been used to assess upper airway size and precise localization of the sites of upper airway obstruction during sleep. Dynamic imaging modalities enabled assessment of dimensional changes in the upper airway during respiration and sleep. This article focused on reviews of various upper airway imaging modalities, especially dynamic upper airway imaging studies providing important information on the pathogenesis of OSA.

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Studies on the Pharmacological Actions of Cactus:Identification of Its anti-Inflammatory Effect

  • Park, Eun-Hee;Kahng, Ja-Hoon;Paek, Eun-Ah
    • Archives of Pharmacal Research
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    • v.21 no.1
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    • pp.30-34
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    • 1998
  • The ethanol extracts of Opuntia ficus-indica fructus (EEOF) and Opuntia ficus-indica stem (EEOS) were prepared and used to evaluate the pharmacological effects of cactus. Both the extracts inhibited the writhing syndrome induced by acetic acid, indicating that they contains analgesic effect. The oral administrations of EEOF and EEOS suppressed carrageenan-induced rat paw edema and also showed potent inhibition in the leukocyte migration of CMC-pouch model in rats. Moreover, the extracts suppressed the release of $\beta$-glucuronidase, a lysosomal enzyme in rat neutrophils. It was also noted that the extracts showed the protective effect on gastric mucosal layers. From the results it is suggested that the cactus extracts contain anti-inflammatory action having protective effect against gastric lesions.

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