• Title/Summary/Keyword: experience report

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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.

A Development of Task Generator through an Analysis of Task Location Information Structure (작업위치 정보체계 분석을 통한 작업정보 생성기 개발)

  • Chin Sangyoon;Kang Woo-Young;Kim Yea-Sang
    • Korean Journal of Construction Engineering and Management
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    • v.5 no.2 s.18
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    • pp.64-71
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    • 2004
  • A daily report is one of the critical documents in construction projects, since it helps them keep track of various as-built information. Despite the important role in progress management, the daily reporting process is time-consuming, and the representation of task information on daily reports are not effective enough to accumulate daily as-built information for further use in project management. Task information is composed of a specific work type and a location where the task is performed, which means that the same type of work is repeated over the locations. However, in many cases the task locations are described differently depending on a reporter's preference or experience. Without representing task location information effectively, it is difficult to accumulate and to reuse as-built information. The objective of this research is to build a framework for generating task information which can be efficiently accumulated and reused for progress management. To do so, this research built a task information model with focusing on the representation of task location associated with a work type, and developed an information system that supports automated and interactive generation of task information.

Regional Development Policy in Korea-Past, Present and Future (한국의 지역발전정책-과거, 현재, 미래)

  • Jang, Jae-Hong
    • Journal of the Economic Geographical Society of Korea
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    • v.12 no.4
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    • pp.576-596
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    • 2009
  • Recently the World Bank released its World Development Report 2009 (hereafter WDR 2009) with the title 'Reshaping Economic Geography.' In the report, the Korean experience in regional development policy was highly praised. Also, the current government has been trying to reshape the regional development policy in view of 5+2 Economic Regions. The main theme of this paper is how to establish the highly valueadding economic system and how to deal with scale economies for regional development. In this paper these tasks in Korea's regional policy were discussed with reference to the WDR 2009. Enhancing the density of the central city of each Economic Region, reducing the economic distance between cities and rural areas, and getting rid of the barriers to cooperation between provinces are the keys for the efficiency and the effectiveness of the regional policy. In addition, strengthening the national solidarity through collaborative development of 5+2 Economic Regions still remains as one of the major tasks of the Korean government.

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Mesenteric Fibromatosis Mimicking Recurrence after Distal Gastrectomy for Gastric Cancer

  • Kim, Dae-Hoon;Oh, Seung-Jong;Oh, Jeong-A;Bae, Young-Sik;Choi, Min-Gew;Noh, Jae-Hyung;Sohn, Tae-Sung;Kim, Kyoung-Mee;Kim, Sung;Bae, Jae-Moon
    • Journal of Gastric Cancer
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    • v.10 no.2
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    • pp.79-83
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    • 2010
  • Mesenteric fibromatosis is a monoclonal, fibroblastic proliferation arising from musculoaponeurotic structure, and it is distinctive lesions defined as a group of non-metastasizing fibroblastic tumors which has local invasion and has a high recurrence rate after the surgical excision. The main treatment modality is the surgical excision. Radiation therapy, chemotherapy, and hormone therapy are also known as useful treatments. We report our experience of a recent case of Mesenteric fibromatosis. A 62-year old female patient had undergone gastrectomy due to gastric cancer. 18 months after gastrectomy, we detected an abdominal mass. The preoperative radiologic findings were suggestive of recurrence. Exploratory laparotomy was performed and post-operative pathologic diagnosis was confirmed as fibromatosis. We report a patient with mesenteric fibromatosis that mimic recurrence after gastrectomy for gastric cancer.

Avulsion of the Tibial Attachment of the Posterior Cruciate Ligament in a 13-year-old child - A Case Report - (13세 소아에서 후방십자인대의 경골 부착 부위의 견열 골절 - 증례보고-)

  • Lee Kwang-Won;Lee Seung-Hun;Kim Ha-Yong;Kim Byung-Sung;Choy Won-Sik
    • Journal of Korean Orthopaedic Sports Medicine
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    • v.1 no.1
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    • pp.61-64
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    • 2002
  • The authors report one case of isolated avulsion fracture of the tibial attachment of the posterior cruciate ligament. A 13 years old boy was admitted for right knee pain and swelling after the soccer injury on his knee. Hemarthrosis and posterior instability were present. Simple roentgenographic examination showed an isolated avulsion fracture of the tibial attachment of the posterior cruciate ligament. Open approach through the popliteal fossa was used and bony fragment was fixed into its bed using pull-out sutures. Postoperatively, a long leg cast was applied for 4 weeks. The patient was followed for 6 months. He returned to his previous activity levels. There was no residual laxity. Isolated avulsion of the posterior cruciate ligament from the tibia before the epiphyseal fusion is very rare in children. We reported one case of our experience and its result.

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Sciatic Nerve Injury Following a Delayed Surgical Procedure for the Hamstring Muscle Avulsion from the Ischial Tuberosity - A Case Report - (슬근 좌골 결절 견열 손상의 지연 수술후 발생한 좌골신경 손상 - 증례 보고 -)

  • Kim Hui Taek;Yoo Chong Il;Yun Pyung Ju;Lee Jong Seo
    • Journal of Korean Orthopaedic Sports Medicine
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    • v.1 no.1
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    • pp.75-78
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    • 2002
  • Avulsion of the hamstring tendon from the ischial tuberosity is common in many sports, especially with younger athletes. The injury results from a sudden forceful flexion of the hip joint when the knee is extended and the hamstring muscles powerfully contracted. Early diagnosis and surgical repair with reattachment of avulsed muscles to the ischial tuberosity restore function and correct deformity. But, a delay in the diagnosis and treatment leads to a poor result functionally and clinically. Complication, such as heterotopic ossification and failure of the fixation, etc., were reported following a surgical procedure for this injury. However, sciatic nerve injury has not been reported in the literature. We report our experience of a sciatic nerve palsy after surgery that was performed three months after that the initial injury.

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Compression of the Superficial Radial Nerve by Schwannoma: A Case Report (신경초종에 의한 표재요골신경의 압박)

  • Kim, Hyun-Sung;Kim, Chul-Han;Kang, Sang-Gue;Tark, Min-Seong
    • Archives of Plastic Surgery
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    • v.38 no.4
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    • pp.494-497
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    • 2011
  • Purpose: Schwannoma, a benign peripheral nerve tumor, is slow-growing, encapsulated neoplasm that originates from the Schwann cell of the nerve sheath. Schwannoma most frequently involves the major nerve. Schwannoma occurring in the superficial radial nerve rare. This is a report of our experience with schwannoma arising from the superficial radial nerve with neurologic symptom. Methods: A 55-year-old woman presented with eight-month history of progressive numbness and paresthesia in dorsum of the thumb and index finger. Physical examination revealed a localized mass on the midforearm. Sonographic examination showed an ovoid, heterogenous, hypoechoic lesion, located eccentrically in related to the superficial radial nerve. The lesion was mobile in the transverse but not in the longitudinal axis of the nerve, which was thought to favour schwannoma rather than neurofibroma. At operation, a $20{\times}15mm$ ovoid, yellowish grey mass was seen arising from the superficial radial nerve. The tumor present as eccentric masses over which the nerve fibers are splayed. Using operating microscope, the tumor was removed, preserving the surrounding nerve. Results: Histology confirmed that the mass was a benign schwannoma. There were no postoperative complications. After two months the patient had no clinically demonstrable sensory deficit. Conclusion: An unsusual case of a schwannoma of the superficial radial nerve is presented. In case with neurologic symptom, prompt surgical decompression must be made to prevent further nerve damage and to restore nerve function early.

A Case Report of Focal Ossification of the Auricular Cartilage (귀 연골조직에서 발생한 부분적 골화)

  • Suh, Hyeun Woo;Kim, Hyo Seong;Ha, Ki Young;Han, Eun Mee;Kim, Boo Yeong
    • Archives of Craniofacial Surgery
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    • v.12 no.1
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    • pp.58-62
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    • 2011
  • Purpose: The focal ossification of auricular cartilage is an unusual clinical entity in which the ear becomes partially or totally rigid and immalleable. This condition may result from cold injury, local trauma, inflammation, or various systemic diseases. Patients may feel mild discomfort, but there are usually no other serious symptoms. We present a case of focal ossification of auricular cartilage in which the cause is unknown. Methods: A healthy 58-year-old man presented with a 2-year history of hard mass of right posterior auricular area. He denied any precipitating historical events like cold injury and inflammation. Routine testing did not demonstrate systemic abnormalities. Ultrasonographic examination revealed a $22{\times}10{\times}11mm$ sized heterogenous isoechoic mass showing an acoustic shadow. Results: Excisional biopsy was performed under local anesthesia. Histological examination revealed the ossification with deposition of trabecular bone in normal elastic cartilage. The patient was healed without any problems and satisfied with the result. Conclusion: We report clinical experience of focal ossification of auricular cartilage, which is quite a rare clinical entity. It should be considered that there is the possibility of ossification of cartilage when it meets the benign mass of the ear.

Reconstruction of Long Term Neglected, Complicated Scalp and Calvarial Defects with Subdural Abscess Using Latissimus Dorsi Myocutaneous Free Flap: A Case Report (장기간 방치된 경막하 농양을 동반한 복합 두피 및 두개골 결손 환자에서 광배근 유리 근피부피판을 이용한 치험례)

  • Noh, Yongjoon;Lee, Sang Hyung;Jeong, Eui Cheol;Park, Ji Ung
    • Archives of Craniofacial Surgery
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    • v.12 no.2
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    • pp.107-110
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    • 2011
  • Purpose: There have been few case reports regarding treatment plans for long-term, neglected scalp defects and calvarial defects with subdural abscess. The purpose of this case report is to present our experience with a free latissimus dorsi musculocutaneous flap for scalp and calvarial defects and to discuss flap options in comparison with a literature review. Methods: A 60-year-old man who fell down from a four-story-height that resulted in a craniotomy in 1979; he visited our outpatient clinic for a chronic, purulent scalp and calvarial defects with unidentified artificial bone. The artificial bone was removed by a neurosurgeon and reconstructed with a free latissimus dorsi musculocutaneous flap. The deep temporal artery was used as a recipient artery. The postoperative flap status was excellent until the 6th day post-operation when the patient experienced a seizure, and an arterial insufficiency occurred at the flap probably due to an arterial spasm. Emergency exploration with arterial re-anastomosis was performed and the flap status was stabilized. Results: Complete wound healing was achieved after 3 weeks without infectious and systemic postoperative complications. During the 6 month follow-up period, there were no complications. Conclusion: We suggest the latissimus dorsi myocutaneous free flap as a good treatment option for a chronic, purulent, complicated scalp with calvarial defect, as a well as treatment for an acute traumatic defect.

Treatment of Dizziness with Polycythemia Vera by Korean Medicine: Case Report (한방치료로 호전된 진성적혈구증가증으로 환자의 현훈 치험 1례)

  • Kim, Na-yeon;Yoon, Mi-jung;Cho, Na-kyung;Choi, Hong-sic;Kim, Seung-mo;Kim, Kyung-soon
    • The Journal of Internal Korean Medicine
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    • v.41 no.6
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    • pp.1265-1273
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    • 2020
  • Objectives: Patients with polycythemia vera can experience many symptoms, including dizziness, headache, and fatigue, caused by a high red blood cell mass and blood viscosity. Some symptoms persist even after appropriate treatment. The purpose of this study was to examine the effect of Korean medicine on dizziness following polycythemia vera treatment. Methods: A patient diagnosed with polycythemia vera was treated with Korean medicine, including pharmacopuncture, acupuncture, and herbal medicine. We used a numeral rating scale (NRS) and the Dizziness Handicap Inventory (DHI) to observe the effects of the treatment. Results: After treatment, the hematocrit and hemoglobin increased to within normal range, and the NRS scores for dizziness and fatigue, subjective discomfort, and DHI scores decreased compared with the preadmission values. Conclusions: This report shows that Korean medicine helped to relieve dizziness in a patient with polycythemia vera. However, we need further studies to establish treatment regimens for polycythemia vera symptoms.