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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.

PENETRATING INJURY OF FACE AND NECK WITH THE VERTEBRAL ARTERY INJURY;A CASE REPORT (추골동맥 손상을 동반한 안면과 경부의 관통성 외상 치험예)

  • Song, Woo-Sik;Kim, In-Kwon;Lee, Sang-Hyun;Hwang, Yun-Jung;Ahn, Jung-Yong
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.23 no.5
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    • pp.447-451
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    • 2001
  • With the exception of gun shot wound, the incidence of penetrating injury of face and neck areas nonorganic foreign bodies is relative low. But the diagnostic evaluation and therapeutic management of penetrating facial wounds need careful decision, when the anatomic proximity of the major vessels and nerve is considered. Penetrating facial trauma with concomitant vascular injury present challenging problems, the immediate complication of this vascular injury are severe bleeding, hematoma formation, shock, obstruction of airway. The vascular injury is conformed by angiography. In this report, a industrial tool(long tack) fired by explosive air is penetrated into face and to neck. In angiograms penetrating injury of the vertebral artery is detected. We performed the embolization of the vertebral artery with coils and manual removal of the foreign body without any complication was followed.

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Case of Ulcer resulting from buerger's disease Improve by Acupuncture Therapy (버거씨 질환으로 인한 수지궤양(手指潰瘍)의 침치료(鍼治療) 호전(好轉) 1례(例))

  • Eom, Jae-yong;Chae, Jin-suk;Ko, Tae-hyun;Son, Sung-se;Choi, Ik-sun
    • Journal of Acupuncture Research
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    • v.21 no.4
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    • pp.263-268
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    • 2004
  • Objective: The purpose of this case study is to show a case of ulcer due to buerger's disease improved by conservative acupuncture therapy. Methods : The patient was treated from 29 December, 2003 to 12 April, 2004. The patient received TDP, Infra-Red and Acupuncture therapy. Results: We evaluated through visual analog scale(VAS) and picture of patient's hand. Conclusion: We suggest to treat ulcer resulting from buerger's disease with Acupuncture therapy as a conservative therapy and would like to research acupuncture treatment plan for the further treatment.

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Differential Expression of DNA Repair Gene, N-Methylpurine-DNA Glycosylase Dduring the Development of Balb/c Mice (Balb/c 생쥐에서 DNA 회복효소인 N-Methylpurine-DNA Glycosylase(MPG)의 발생단계별 유전자 발현 조절)

  • Kim, Nam-Keun;Lee, Sook-Hwan;Kwak, In-Pyung;Han, Sei-Yul;Park, Chan;Lee, Hey-Kyung;Cha, Kwang-Eun;Cha, Kwang-Yul
    • Development and Reproduction
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    • v.1 no.1
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    • pp.37-43
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    • 1997
  • DNA 회복효소인 MPG는 DNA의 퓨린기에 결합되어 있는 메틸기 등 이물질을 염기와 함께 제거하는 작용을 한다. 본 연구에서는 노던 블롯팅 방법을 이용하여 Balb/c mice의 각 조직별로 발생단계별 mRNA 발현 정도를 조사하였다. 뇌와 콩팥조직에서는 출생직후에 발현이 가장 활발하였으며, 성체시기까지 비교적 높은 활성도가 유지되었다. 위장 조직에서는 출생직후에서 일주일 후까지는 명확히 관찰되었으나, 그 이후는 발현이 약화되었다. 간장과 폐조직에서는 그 발현 정도가 매우 약했으며, 특히, 간조직의 경우 출생 직후보다 성체에서 그 발현이 현저히 감소되었다. 이들 조직에서의 활성도는 출생후 24시간 이내에서 1주일후까지 상대적으로 높게 유지되다가 점차 감소되었다. 즉, 수유기(출생직후부터 1주일후)에는 그 활성도가 성체시기(4주에서 6개월)보다 높게 유지되었다. 이러한 결과들로 미루어 보아 늙은 생쥐가 젊고 어린 생쥐보다 alkylating mutagen들에 노출되었을대 암에 걸릴 위험성이 높다고 생각된다.

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Comparison of IVF-ET outcomes in patients with hydrosalpinx pretreated with either sclerotherapy or laparoscopic salpingectomy

  • Na, Eun Duc;Cha, Dong Hyun;Cho, Jung Hyun;Kim, Mi Kyoung
    • Clinical and Experimental Reproductive Medicine
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    • v.39 no.4
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    • pp.182-186
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    • 2012
  • Objective: Many studies have demonstrated that hydrosalpinx has a detrimental effect on the outcome of IVF. Treating hydrosalpinges prior to the IVF procedure in women with hydrosalpinges is thought to improve the likelihood of successful IVF outcome. Vaginal ultrasound-guided aspiration of hydrosalpinx fluid (HSF) with injection of the sclerosing agent in situ might be simpler than invasive procedures like salpingectomy. Therefore, we carried out a retrospective study on the effects of ultrasound-guided HSF aspiration and injection of the sclerosing agent of ultrasonically diagnosed hydrosalpinx on IVF outcome. Methods: In our retrospective study, 97 tubal factor infertile female patients that underwent IVF treatment between January 2005 and December 2012 at the Reproductive Medicine Center of CHA Hospital were divided into two study groups. Fifty-six patients underwent interventional ultrasound sclerotherapy (group 1), and the remaining 41 patients received laparoscopic salpingectomy (group 2) before IVF. We compared the IVF outcomes of the two groups. Results: The results showed that ultrasound-guided HSF aspiration and sclerotherapy have IVF outcomes comparable to laparoscopic salpingectomy. Conclusion: Interventional ultrasound guided sclerotherapy before IVF is an effective and less invasive prophylactic intervention alternative to salpingectomy with hydrosalpinx.

Parathyroid Adenoma Causing Spontaneous Cervical Hematoma: A Case Report and Review of Literature (급성 경부 혈종을 일으킨 부갑상선선종 1예)

  • Shin, Tae-Hyun;Park, Sung-Su;Won, Cheong-Se;Kim, Mi Kyung;Kim, Min-Su
    • Korean Journal of Head & Neck Oncology
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    • v.35 no.2
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    • pp.27-30
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    • 2019
  • Parathyroid adenoma can cause extracapsular bleeding. In 1934, Capps first reported a case of massive hemorrhage secondary to rupture of a parathyroid adenoma. Recently, we experienced a 73-year-old female presented with pharyngeal discomfort and extensive ecchymosis over the neck without history of trauma. Endoscopic investigation revealed submucosal hemorrhage in the posterior wall of the hypopharynx. CT scan and ultrasonography demonstrated the presence of a mass below the left thyroid lobe. Serum calcium level was normal and PTH level was elevated. We underwent left thyroidectomy and parathyroidectomy 2 weeks later from first visit. During the operation, hypopharyngeal mucosa was teared and it was treated with pharyngostoma formation and L-tube feeding. We report a rare case of normocalcemic parathyroid adenoma with spontaneous hemorrhage and propose the proper management period with a literature review.

Associations between Smartphone Addiction Proneness and Psychopathology (스마트폰중독과 정신병리 사이의 상관관계)

  • Lee, Sung-Jae;Kim, Borah;Choi, Tai Kiu;Lee, Sang-Hyuk;Yook, Ki-Hwan
    • Korean Journal of Biological Psychiatry
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    • v.21 no.4
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    • pp.161-167
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    • 2014
  • Objectives This study aims to investigate possible associations between proneness toward smartphone addiction and certain psychopathological variables to evaluate the psychopathological meaning of smartphone addiction. Methods Questionnaires were assigned to 755 adults between September and November 2012. We used the Korean Smartphone Addiction Proneness Scale (SAPS), the Beck Depression Inventory (BDI), the Beck Anxiety Inventory (BAI), the Obsessive-Compulsive Inventory-Revised (OCI-R), and the Barratt Impulsivity Scale-11 (BIS-11). Subjects were classified into two groups according to the scores of the SAPS ; the addiction proneness group and the normal-user group. Results The addiction proneness group had significantly higher scores than the normal-user group in the BDI, BAI, OCI-R, and BIS-11. The scores of the SAPS were positively correlated with the scores of the BDI, BAI, OCI-R, and BIS-11. Using logistic regression analysis, smartphone addiction proneness showed a significant association with BIS-11. Conclusions The results of this study suggest that smartphone addiction proneness may be associated with depression, anxiety, obsessive-compulsive symptoms, and impulsivity. Furthermore, impulsivity could be a vulnerability marker for smartphone addiction proneness.