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Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

  • Yu, Eun Jeong;Kim, Min Jee;Park, Eun A;Hong, Ye Seul;Park, Sun Ok;Park, Sang-Hee;Lee, Yu Bin;Yoon, Tae Ki;Kang, Inn Soo
    • Journal of Genetic Medicine
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    • v.19 no.1
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    • pp.14-21
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    • 2022
  • Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Usefulness of a new polyvinyl alcohol hydrogel (PVA-H)-based simulator for endoscopic submucosal dissection training: a pilot study

  • Dong Seok Lee;Gin Hyug Lee;Sang Gyun Kim;Kook Lae Lee;Ji Won Kim;Ji Bong Jeong;Yong Jin Jung;Hyoun Woo Kang
    • Clinical Endoscopy
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    • v.56 no.5
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    • pp.604-612
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    • 2023
  • Background/Aims: We developed a new endoscopic submucosal dissection (ESD) simulator and evaluated its efficacy and realism for use training endoscopists. Methods: An ESD simulator was constructed using polyvinyl alcohol hydrogel sheets and compared to a previous ESD simulator. Between March 1, 2020, and December 30, 2021, eight expert endoscopists from three different centers analyzed the procedure-related factors of the simulator. Five trainees performed gastric ESD exercises under the guidance of these experts. Results: Although the two ESD simulators provided overall favorable outcomes in terms of ESD-related factors, the new simulator had several benefits, including better marking of the target lesion's limits (p<0.001) and overall handling (p<0.001). Trainees tested the usefulness of the new ESD simulator. The complete resection rate improved after 3 ESD training sessions (9 procedures), and the perforation rate decreased after 4 sessions (12 procedures). Conclusions: We have developed a new ESD simulator that can help beginners achieve a high level of technical experience before performing real-time ESD procedures in patients.

Suppressed CD31 Expression in Sarcoma-180 Tumors after Injection with Toxoplasma gondii Lysate Antigen in BALB/c Mice

  • Pyo, Kyoung-Ho;Jung, Bong-Kwang;Chai, Jong-Yil;Shin, Eun-Hee
    • Parasites, Hosts and Diseases
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    • v.48 no.2
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    • pp.171-174
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    • 2010
  • The anti-tumorigenic effects of Toxoplasma gondii (RH) antigens were studied in a murine sarcoma-180 tumor model. To determine the anti-tumor effects, the reduction in tumor size and expression of CD31 (an angiogenesis marker in the tumor tissue) were examined after injection of BALB/c mice with T. gondii lysate antigen (TLA) or formalin-fixed, proliferation-inhibited, T. gondii tachyzoites. Tumors were successfully produced by an intradermal injection of sarcoma-180 cells with plain Matrigel in the mid-backs of mice. After injection with TLA or formalin-fixed T. gondii tachyzoites, the increase in tumor size and weight nearly stopped while tumor growth continued in control mice that were injected with PBS. CD31 expression in TLA-treated or formalin-fixed T. gondii-injected mice was lower than the control mice. Accordingly, the present study shows that the treatment of mice with formalin-fixed T. gondii or TLA in the murine sarcoma-180 tumor model results in a decrease of both tumor size and CD31 expression.

A successful experience of soil-transmitted helminth control in the Republic of Korea

  • Hong Sung-Tae;Chai Jong-Yil;Choi Min-Ho;Huh Sun;Rim Han-Jong;Lee Soon-Hyung
    • Parasites, Hosts and Diseases
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    • v.44 no.3
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    • pp.177-185
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    • 2006
  • Soil-transmitted helminths (STH), namely Ascaris, Trichuris and hookworms (Ancylostoma and Necator), present a global health problem to about a half of the earth's population. In the Republic of Korea, STH were highly prevalent and were considered a high priority target for national control. To promote the control, a non-governmental organization named Korea Association for Parasite Eradication (currently Korea Association of Health Promotion) was founded in 1964, and mass fecal examination followed by selective mass chemotherapy with anthelmintics was performed twice a year from 1969 to 1995 targeting whole nationwide schoolchildren. Meanwhile, decreasing patterns of national STH infections have been monitored by 7 times' quinquennial national surveys targeting general population. In 1971, the overall intestinal helminth egg positive rate was 84.3% (Ascaris 58.2%, Trichuris 65.4%, and hookworms 10.7%), which became 63.2% in 1976, 41.1% in 1981, 12.9% in 1986, 3.8% in 1992, 2.4% in 1997, and 4.3% (Ascaris 0.03%, Trichuris 0.02%, and hookworms 0%) in 2004. During the control period, national economy rapidly developed, and living standards including environment, sanitation, and agricultural technology greatly improved, which undoubtedly boosted the STH control effects. Our experience indicates that social driving force to establish an eligible national control system to conduct repeated mass chemotherapy, together with improvement of environment and sanitation, is important for initiating and achieving STH control in a developing community.

Establishment of Measurement of Human Cytomegalovirus with in situ ELISA (in situ ELISA를 이용한 사람세포거대바이러스의 측정법 개발)

  • Hwang, Eung-Soo;Kim, Jin-Hee;Park, Chung-Gyu;Cha, Chang-Yong
    • The Journal of Korean Society of Virology
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    • v.30 no.2
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    • pp.125-130
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    • 2000
  • Infection with human cytomegalovirus (HCMV) is of considerable clinical relevance after placental transmission and in immunosuppressed patients such as transplant recipients or patients with AIDS. The rapid detection method of HCMV has been required to overcome the time-consuming methods such as classical plaque assay or other immunological methods. This study was performed to establish the in situ ELISA, in which human lung fibroblasts infected with HCMV were fixed and used directly as antigen in 96 well culture plate. Expressed HCMV antigens were detected with HCMV-specific monoclonal antibodies. This method could detect HCMV dose-dependently upto $3{\times}10^2\;pfu/ml$. Antiviral activity of ganciclovir could be assayed within the known range of effective dose. This result showed that HCMV could be quantitated by in situ ELISA. The chemical, which was selected on the basis of component analysis in natural product, was tested to have the anti-HCMV activity by in situ ELISA, and three among five samples were found to have anti-HCMV activity with the dose-dependent manner. Conclusively in situ ELISA could be useful method for quantitation of HCMV and screening antiviral activity of samples to HCMV.

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Correlation between Caloric Intake and Lung Function Parameters in Patients with Chronic Obstructive Pulmonary Disease (만성폐쇄성폐질환 환자에서 열량섭취와 폐기능지표와의 상관관계)

  • Yoon, Ho Il;Park, Young Mi;Choue, Ryowon;Kang, Yeong Ae;Kwon, Sung Youn;Lee, Jae Ho;Lee, Choon-Taek
    • Tuberculosis and Respiratory Diseases
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    • v.65 no.5
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    • pp.385-389
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    • 2008
  • Background: There are reports that food deprivation causes emphysematous changes in the lungs of rats and humans. However, the meaning of this phenomenon in patients with chronic obstructive pulmonary disease has not been evaluated. The aim of this study was to determine the correlations between the caloric intake and parameters of the lung function in patients with chronic obstructive pulmonary disease. Methods: Patients with chronic obstructive pulmonary disease who had visited the respiratory clinic from March, 2006 for one year were enrolled in this study. The patients underwent pulmonary function tests, and a dietitian evaluated their nutritional intake using a food record method. Results: There was no correlation between the total caloric intake and forced vital capacity (FVC, %predicted) or forced expiratory volume in one second ($FEV_1$, %predicted). The total caloric intake showed a positive correlation with the diffusing capacity of carbon monoxide (DLCO %predicted, DLCO/VA %predicted), and a negative correlation with the total lung capacity (TLC, %predicted). Of the calories taken, only calories from protein intake correlated with the diffusing capacity of carbon monoxide (DLCO %predicted, DLCO/VA %predicted). Conclusion: The total caloric intake of patients with chronic obstructive pulmonary disease showed a positive correlation with the diffusing capacity of the lung, and a negative correlation with the total lung capacity. Further study on the linkage between the caloric intake and severity of emphysema is needed.

Analysis of Hexaconazole in Agricultural Products using Multi Class Pesticide Multiresidue Method (다종 농약 다성분 분석법을 이용한 농산물 중 hexaconzole 분석)

  • Choi, Su Jeong;Hwang, In Sook;Cho, Tae Hee;Lee, Jae In;Lee, In Sook;Yook, Dong Hyun;Park, Won Hee;Kim, Moo Sang;Kim, Gun Hee
    • Journal of Food Hygiene and Safety
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    • v.30 no.4
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    • pp.366-371
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    • 2015
  • This work was conducted to apply the multi class pesticide multiresidue method for determining the use of hexaconazole in the agricultural products using GC-NPD. The multi class pesticide multiresidue method results were validated for the assay of hexaconazole by using linearity, accuracy, precision, limit of detection and quantitation. The linearity in the concentration ranged from 0.025 to 5.0 mg/L ($R^2$ > 0.999). Lettuce recoveries ranged from 89.42% to 94.15% with relative standard deviations below 7.78%, for spiking levels from 0.04 to 4.0 mg/kg. The limit of detection was 0.04 mg/kg, and the limit of quantitation was 0.11 mg/kg. The intra- and inter-day precisions were 2.42~3.49% and 4.90~7.78%, respectively. We suggested that the multi class pesticide multiresidue method for determining hexaconazole was highly accurate and reproducible, and it will be used as a routine analysis in agricultural products.

Quality Control of Residual Solvents in $[^{18}F]$FDG Preparations by Gas Chromatography (기체 크로마토그래피를 이용한 $[^{18}F]$FDG 주사액 중의 잔류 용매의 정도관리)

  • Lee, Hak-Jeong;Jeong, Jae-Min;Lee, Yun-Sang;Kim, Hyung-Woo;Chang, Young-Soo;Lee, Dong-Soo;Chung, June-Key;Lee, Myung-Chul
    • Nuclear Medicine and Molecular Imaging
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    • v.41 no.6
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    • pp.566-569
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    • 2007
  • Purpose: Analysis of volatile organic solvents in 2-deoxy-2-$[^{18}F]$ fluoro-D-glucose ($[^{18}F]$FDG) preparations was performed by gas chromatography (GC), in accordance with USP. Materials and Methods: Analyses were carried out on a Hewlett-Packard 6890 gas chromatography equipped with an FID. Results: We determined the amounts of ethanol and acetonitrile on every batch of our routine $[^{18}F]$FDG preparations, ranging between 5000 ppm and 100 ppm. In our routine preparation of $[^{18}F]$FDG, the amount of acetonitrile and ethanol in the final product were well below the maximum allowable limit described in the USP. Conclusion: Our $[^{18}F]$FDG preparations were in accordance with the suggested USP maximum allowable levels of the quality control analysis of volatile organic compounds.