• 제목/요약/키워드: cases report

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Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing (엑솜 시퀀싱으로 진단된 가족성 당원병 IXa 형 증례)

  • Sohn, Young Bae;Jang, Ju Young;Lee, Dakeun;Jang, Ja-Hyun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.96-102
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    • 2017
  • Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

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Clinical Aspects in Patients with Thyrotoxic Periodic Hypokalemic Paralysis (갑상선 중독성 주기성마비 환자의 임상적 고찰)

  • Narn, Sang-Yob;Kirn, Jae-Hong;Oh, Jung-Hyn;Park, Jin-Chul;Yoon, Hyun-Dae;Won, Kyu-Chang;Cho, Ihn-Ho;Sung, Cha-Kyung;Lee, Hyoung-Woo
    • Journal of Yeungnam Medical Science
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    • v.16 no.2
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    • pp.228-236
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    • 1999
  • Background: Thyrotoxic periodic paralysis is an uncommon illness characterized by intermittent flaccid paralysis of skeletal muscle, usually accompanied by hypokalemia, in patient with hyperthyroidism. However, the pathophysiology of thyrotoxic periodic paralysis remains largely unexplained and controversial. This report describes the clinical and biochemical findings in 19 patients with thyrotoxic periodic paralysis who were examined at the Yeungnam University Medical Center(YUMC) during the past decade. Methods: The medical records of 997 YUMC patients, seen between 1986 and 1996, with diagnosis of hyperthyroidism were reviewed. Nineteen patients out of 997 hyperthyroidism patients were diagnosed, and examined by history, physical examination, serum electrolyte value, and thyroid function test during paralysis. On the basis of these results, comparisons were made on age, sex, precipitating factors, timing, affected limbs, prognosis, serum potassium and serum phosphate and thyroid hormone levels. Results: The prevalence of periodic paralysis in hyperthyroidism was 1.9 percent and the male to female prevalence ratio was 30:1 and in all patients, the development of perodic paralysis was correlated with hyperfunctional state of the thyroid gland. Eleven cases of periodic paralysis were associated with hypokalemia and their thyroid hormone levels were significantly more increased than those of the patients without hypokalemia. Interestingly, our study shows the recurrence of paralysis after treatment. Conclusion: Although the precise pathophysiology of the disease is as yet undefined and controversial, it occurs primarily in Asians with an overwhelming male preponderance and prevalence of 2 percent in hyperthyroidism. The interactive roles of thyroid hormone, Na-K pump, and genetically inherited defect in the cellular membrane potential of the skeletal muscle can be speculated. Further investigation will be needed to firmly establish the mechanism of thyrotoxic periodic paralysis.

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Prevalence of Feline Leukemia Virus Infection in Cats in Bangladesh (방글라데시의 고양이 백혈병 바이러스의 감염율 조사)

  • Rahman, Siddiqur;Bhuiyan, Salauddin;Islam, Taohidul;Nahar, Azimun;Sarker, Roma Rani;Alam, Emtiaj;Chakrabarty, Amitavo;Sarker, Abu Sayed;Akhter, Laila;Chae, Joon-Seok
    • Journal of Veterinary Clinics
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    • v.31 no.1
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    • pp.1-5
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    • 2014
  • Feline leukemia virus (FeLV) is a retrovirus that represents one of the most common and important infectious diseases of cats worldwide and it is responsible for more deaths among cats than any other infectious diseases. Prevalence data are necessary to define prophylactic, management and therapeutic measures for stray, feral and owned cats which are lacking in Bangladesh. The study was carried out to determine the prevalence of FeLV infection in Mymensingh district of Bangladesh using RapiGEN$^{(R)}$ FeLV Ag Test Kit (RapiGEN$^{(R)}$ Inc., Republic of Korea), a rapid one-step immunochromatographic assay. Blood samples from total 130 cats (23 owned cats and 107 unowned cats) were collected and tested following the manufacturer's instruction. An overall prevalence of FeLV infection was 1.54% (2/130). Prevalence was found 1.79% (2/112) on Day 0-up to one year aged cats (young) but no positive case was found in above 1 year (Adult) aged group. In male and female cats, the prevalence was 1.72% (1/58) and 1.39% (1/72), respectively. In un-owned cats the prevalence was 1.87%. Positive cases to FeLV were found only in clinically sick cats. No significant relationship was found according to age, sex, ownership status and health status. To the best of our knowledge this is the first report of the prevalence of FeLV infection in Bangladesh using RapiGEN$^{(R)}$ FeLV test kits which is very much effective because it is easy to apply, less expensive and quick screening of such type of infection.

The Preventive Measures On Terrorism Against Overseas Korean Businessmen(A view of recent ethnic minority separation movement) (해외근무(海外覲務) 기업체(企業體)에 대(對)한 테러 방지책(防止策) - 최근(最近) 소수민족분리주의운동지역(小數民族分離主義運動地域)을 중심(中心)으로 -)

  • Choi, Yoon-Soo
    • Korean Security Journal
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    • no.1
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    • pp.351-370
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    • 1997
  • This study concerns possible measures to prevent separatists' terrorist acts against overseas Korean businessmen. Of late, many Korean enterprises are helping a number of foreign countries develop their economy, by building factories and manning regional offices in those countries. But recent development of terrorism especially against Korean businessmen is alarming. This report discusses the need for Korean enterprises heading overseas to prepare themselves with awareness of terrorism and possible protective measures against it, besides their routine pursuance of profits; and for the government and prospective enterprises to refrain from investing in those countries having active separatist movements. If an investment has become inevitable, a careful survey of the region in conflict should be conducted and self-protective measures should be put in place through security information exchange, emergency coordination and training of personnel, etc. This study will first review the past terrorist incidents involving employees of overseas Korean enterprises, and then will focuss on seeking effective measures on the basis of the reported incidents. In carrying out the study, related literature from both home and abroad have been used along with the preliminary materials reported and known on the Internet from recent incidents. 1. The separatist movements of minority groups Lately, minority separatist groups are increasingly resorting to terrorism to draw international attention with the political aim of gaining extended self rule or independence. 2. The state of terrorism against overseas Korean enterprises and Koreans Korean enterprises are now operating businesses, and having their own personnel stationed, in 85 countries including those in South East Asia and Middle East regions. In Sri Lanka, where a Korean enterprise recently became a target of terrorist bombing, there are 75 business firms from Korea and some 700 Korean employees are stationed as of August 1996. A total of 19 different terrorist incidents have taken place against Koreans abroad since 1990. 3. Terrorism preventive measures Terrorism preventive measures are discussed in two ways: measures by the government and by the enterprises. ${\blacktriangleleft}$ Measures by the government - Possible measures at governmental level can include collection and dissemination of terrorist activity information. Emphasis should be given to the information on North Korean activities in particular. ${\blacktriangleleft}$ Measures by individual enterprises - Organizational security plan must be established by individual enterprises and there should also be an increase of security budget. A reason for reluctant effort toward positive security plan is the perception that the security budget is not immediately linked to an increment of profit gain. Ensuring safety for overseas personnel is a fundamental obligation of an enterprise. Consultation and information exchange on security plan, and an emergency support system at a threat to security must be sought after and implemented. 4. Conclusion Today's terrorism varies widely depending on reasons and causes, and its means has become increasingly informationalized and scientific as well while its method is becoming more clandestine and violent. Terrorist organizations are increasingly aiming at enterprises for acquisition of budgets needed for their activities. Korean enterprises have extended their business realm to foreign countries since 1970, exposing themselves to terrorism. Enterprises and their employees, therefore, should establish their own security measures on the one hand while the government must provide general measures, on the other, for the protection of the life and property of Korean residents abroad from terrorist attacks. In this regard, set-up of a counter terrorist organization that coordinates the efforts of government authorities in various levels in planning and executing counter terrorist measures is desired. Since 1965, when the hostile North Korea began to step up its terrorist activities against South Koreans, there have been 7 different occasions of assassination attempt on South Korean presidents and some 500 cases of various kidnappings and attempted kidnappings. North Korea, nervous over the continued economic growth and social stabilization of South Korea, is now concentrating its efforts in the destruction and deterioration of the national power of South Korea for its earlier realization of reunification by force. The possibility of North Korean terrorism can be divided into external terrorist acts and internal terrorist acts depending on the nationality of the terrorists it uses. The external terrorist acts include those committed directly by North Korean agents in South Korea and abroad and those committed by dissident Koreans, hired Korean residents, or international professionals or independent international terrorists bought or instigated by North Korea. To protect the life and property of Korean enterprises and their employees abroad from the threat of terrorism, the government's administrative support and the organizational efforts of enterprises should necessarily be directed toward the planning of proper security measures and training of employees. Also, proper actions should be taken against possible terrorist acts toward Korean business employees abroad as long as there are ongoing hostilities from minority groups against their governments.

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Aprotinin Therapy for Cardiac Operation in Adult -Full dose regimen- (개심술에서 아프로티닌의 효과 (고용량 요법))

  • 장운하;오태윤;김미혜
    • Journal of Chest Surgery
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    • v.32 no.4
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    • pp.358-363
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    • 1999
  • Background: Recently, many cardiac centers have been using aprotinin to reduce operative bleeding in cardiac operations using cardiopulmonary bypass. A variety of reports have confirmed the effectiveness of the drug in cardiac operations. In addition to the operations which could be considered to cause severe operative bleeding such as redo operation, long cardiopulmonary bypass operation and etc, the use of aprotinin is increasing in the field of primary cardiac operations. Varying doses of regimen have been introduced since the first report by Royston et al, and also various opinions on the effectiveness and safeness of the each regimen have been reported. We reviewed our own experience of the full dose aprotinin regimen(Hammersmith regimen) retrospectively. Material and Method: From October 1994 to February 1998, 40 cases of cardiac operative patients were randomized into two groups: aprotinin group(20 patients) which received a full dose aprotinin regimen and control group(20 patients) which did not receive aprotinin. To evaluate the degree of bleeding decrease, we analysed and compared the amount of postoperative 6 hours and 24 hours bleeding in the each group. To confirm the renal dysfunction, we measured the postoperative creatinine level. Result: In the amount of postoperative 6 hours bleeding, a statistically significant bleeding decrease was demonstrated in the aprotinin group compared to the control group(aprotinin group: 186${\pm}$40cc, control group:409${\pm}$69cc, P=0.010). Similar result was observed in the postoperative 24 hours(aprotinin group:317${\pm}$53cc, control group: 671${\pm}$133cc, P=0.024). Conclusion: We concluded that full dose regimen of aprotinin can remarkably reduce postoperative bleeding in cardiac operations without significant renal dysfunctions.

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The First 20 Cases of Cardiac Surgery Using the da $Vinci^{TM}$ Surgical System: A Single Center Experience (다빈치 수술로봇을 이용한 심장수술 20예 보고 - 단일 기관 보고 -)

  • Je, Hyoung-Gon;Lee, Yong-Jik;Jung, Sung-Ho;Jung, Jae-Seung;Kang, Pil-Je;Choo, Suk-Jung;Song, Hyun;Chung, Cheol-Hyun;Lee, Jae-Won
    • Journal of Chest Surgery
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    • v.41 no.4
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    • pp.423-429
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    • 2008
  • Background: The interest in robotic cardiac surgery has recently grown but there has not been much clinical research reported on this. The aim of this study is to examine our initial experience, since August 2007, with robotic cardiac surgery using the da $Vince^{TM}$ surgical system and to evaluate the feasibility and safety of it. Material and Method: Between August and December 2007, a total of 20 patients underwent robotic cardiac surgery using the da Vinci surgical system. For mitral valve repair (n=11), tricuspid valve repair (n=1), and ASD repair (n=1), cannulation, antegrade cardioplegia and transthoracic aortic cross-clamping were conducted for the right femoral vessels and the right internal jugular vein. For minimally invasive direct CABG (MIDCAB) (n=7), the internal thoracic artery (ITA) was harvested with the da Vinci surgical system. Result: The mean age of the patients was 50.1 (range: $26{\sim}78$) years. Three concomitant Maze procedures and one tricuspid annuloplasty were combined with mitral valve repair. The mean cardiopulmonary bypass time was $208.0{\pm}61.3$ minutes and the aortic cross clamp time was $158.8{\pm}40.6$ minutes. No patients showed more than mild mitral regurgitation after repair and the median hospital stay was 4 days. The robotic-harvested ITA was used for either left ITA (n=6) or bilateral ITA (n=1). The mean harvest time was $43.2{\pm}12.0$ minutes. The harvested ITA showed good flow and it was anastomosed under direct vision after left anterolateral thoracotomy. The patency of all the grafts was 100% (18/18) in MIDCAB. Conclusion: Robotic cardiac surgery using the da Vinci surgical system was variously adapted to areas such as mitral and tricuspid valve repair, ASD repair and ITA harvest for MIDCAB. The early results of the robotic cardiac surgery showed its safety and feasibility. With this primary report, we anticipate that clinical applications and further studies on robotic cardiac surgery using the da Vinci surgical system will be actively conducted in Korea.

Clinical Benefits and Complications of Cryotherapy in Advanced Lung Cancer with Central Airway Obstruction (중심성 기도 폐쇄를 동반한 폐암에서 냉동치료의 임상적 유용성 및 부작용)

  • Jung, Jin Yong;Lee, Sung Yong;Kim, Dae Hyun;Lee, Kyung Joo;Lee, Eun Joo;Kang, Eun Hae;Jung, Ki Hwan;Kim, Je Hyeong;Shin, Chol;Shim, Jae Jeong;In, Kwang Ho;Kang, Kyung Ho;Yoo, Se Hwa
    • Tuberculosis and Respiratory Diseases
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    • v.64 no.4
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    • pp.272-277
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    • 2008
  • Background: The efficacy of the use of the interventional bronchoscope for palliation of patients with central airway obstruction has been established. In the palliative setting to alleviate central airway obstruction, the use of laser resection, electrocautery, argon plasma coagulation, photodynamic therapy and cryotherapy can provide relief of an airway obstruction. Cryotherapy is the therapeutic application of extreme cold for the local destruction of living tissue. Recently, this technique has been used for endoscopic management of central airway obstructions in Korea. We report the role and complications of the use of cryotherapy for airway obstructions in patients with advanced lung cancer. Methods: We used a flexible cryoprobe for cryotherapy using nitrous oxide as a cryogen. The cryoprobe was applied through the working channel of a flexible fiberoptic bronchoscope. The temperature of the tip was approximately $-89^{\circ}C$, and the icing time was 5~20 seconds. Results: Four patients with a central airway obstruction from advanced lung cancer were treated with cryotherapy. Three of the four patients were treated successfully and the airway obstruction was improved after the cryotherapy procedure. Dyspnea, hypoxia and atelectais were improved in three cases. Two patients experienced complications- one patient experienced pneumomediastinum and the other patient experienced massive hemoptysis during the cryotherapy procedure. However, these complications resolved and did not influence mortality. Conclusion: This technique is effective and relatively safe for palliation of inoperable advanced lung cancer with a central airway obstruction.

ROOT RESORPTION OF PRIMARY TEETH WITHOUT PERMANENT SUCCESSORS (계승영구치가 선천적 결손된 유치의 치근 흡수)

  • Lee, Jung-Eun;Lee, Jae-Ho;Choi, Hyung-Jun;Kim, Seong-Oh;Song, Je-Seon;Son, Heung-Kyu;Choi, Byung-Jai
    • Journal of the korean academy of Pediatric Dentistry
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    • v.36 no.4
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    • pp.625-630
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    • 2009
  • Root resorption of primary teeth usually occurs as the succeeding permanent teeth erupt, which induces differentiation of the hemopoietic cells into osteoclasts. Their root resorption pattern reflects the eruption path of the succeeding permanent teeth, and eventually the primary teeth shed as their succeeding permanent teeth erupt. Even when a permanent tooth germ is congenitally missing, root resorption of the corresponding primary tooth may still occur due to various factors, such as inflammation, traumatic occlusal force, and weakness of periodontium etc. Such congenital missing of permanent teeth is a commonly observed phenomenon in human be ing, and it often accompanies delayed retention of primary teeth. The etiologic factors for congenital missing in elude not only systemic diseases, but also local factors and human evolution process. In the radiographs of the cases in this report, the primary teeth without succeeding permanent teeth show pathologic root resorption. Root resorption progressed about 1/2~3/4 of the roots, and the surfaces of the resorption area were irregular. Considering high susceptibility of the periodontal ligament of primary teeth to root resorption, pathologic root resorption of primary teeth with delayed retention can be explained by the increased masticatory muscle force and abnormal occlusion developed during the mixed dentition. When the primary teeth without succeeding permanent teeth are lost, decision for space maintenance is required and long-term treatment plan for further prosthetic or orthodontic treatment should be establsihed.

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How to Reflect Sustainable Development, exemplified by the Equator Principles, in Overseas Investment (해외투자(海外投資)와 지속가능발전 원칙 - 프로젝트 파이낸스의 적도원칙(赤道原則)을 중심으로 -)

  • Park, Whon-Il
    • THE INTERNATIONAL COMMERCE & LAW REVIEW
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    • v.31
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    • pp.27-56
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    • 2006
  • Today's financial institutions usually take environmental issues seriously into consideration as they could not evade lender liability in an increasing number of cases. On the international scene, a brand-new concept of the "Equator Principles" in the New Millenium has driven more and more international banks to adopt these Principles in project financing. Sustainable development has been a key word in understanding new trends of the governments, financial institutions, corporations and civic groups in the 21st century. The Equator Principles are a set of voluntary environmental and social guidelines for sustainable finance. These Principles commit bank officers to avoid financial support to projects that fail to meet these guidelines. The Principles were conceived in 2002 on an initiative of the International Finance Corporation(IFC), and launched in June 2003. Since then, dozens of major banks, accounting for up to 80 percent of project loan market, have adopted the Principles. Accordingly, the Principles have become the de facto standard for all banks and investors on how to deal with potential social and environmental issues of projects to be financed. Compliance with the Equator Principles facilitates for endorsing banks to participate in the syndicated loan and help them to manage the risks associated with large-scale projects. The Equator Principles call for financial institutions to provide loans to projects under the following circumstances: - The risk of the project is categorized in accordance with internal guidelines based upon the environmental and social screening criteria of the IFC. - For Category A and B projects, borrowers or sponsors are required to conduct a Social and Environmental Assessment, the preparation of which must meet certain requirements and satisfactorily address key social and environmental issues. - The Social and Environmental Assessment report should address baseline social and environmental conditions, requirements under host country laws and regulations, sustainable development, and, as appropriate, IFC's Environmental, Health and Safety Guidelines, etc. - Based on the Social and Environmental Assessment, Equator banks then make agreements with borrowers on how they mitigate, monitor and manage the risks through a Social and Environmental Management System. Compliance with the plan is included in the covenant clause of loan agreements. If the borrower doesn't comply with the agreed terms, the bank will take corrective actions. The Equator Principles are not a mere declaration of cautious banks but a full commitment of lenders. A violation of the Principles in the process of project financing, which led to an unexpected damage to the affected community, would not give rise to any specific legal remedies other than ordinary lawsuits. So it is more effective for banks to ensure consistent implementation of the Principles and to have them take responsible measures to solve social and environmental issues. Public interests have recently mounted up with respect to environmental issues on the occasion of the Supreme Court's decision (2006Du330) on the fiercely debated reclamation project at Saemangeum. The majority Justices said that the expected environmental damages like probable pollution of water and soil were not believed so serious and that the Administration should continue to implement the project seeking ways to make it more environment friendly. In this case, though the Category A Saemangeum Project was carried out by a government agency, the Supreme Court behaved itself as a signal giver to approve or stop the environment-related project like an Equator bank in project financing. At present, there is no Equator bank in Korea in contrast to three big banks in Japan. Also Korean contractors, which are aggressively bidding for Category A-type projects in South East Asia and Mideast, might find themselves in a disadvantageous position because they are generally ignorant of the environmental assessment associated with project financing. In this regard, Korean banks and overseas project contractors should care for the revised Equator Principles and the latest developments in project financing more seriously. It's because its scope has expanded to the capital cost of US$10 million or more across all industry sectors regardless of developing countries or not. It should be noted that, for a Korean bank, being an Equator bank is more or less burdensome in a short-term period, but it must be conducive to minimizing risks and building up good reputation in the long run.

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An Analysis of Landslides at Jinhae District Dated 25th of August, 1979 (1979년(年) 8월(月) 집중호우(集中豪雨)에 의한 진해지구(鎭海地区)의 산사태(山沙汰)에 관한 연구(研究))

  • Kang, Wee Pyung
    • Journal of Korean Society of Forest Science
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    • v.52 no.1
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    • pp.72-78
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    • 1981
  • On August 25, 1979 a heavy daily rainfall of 465 mm pured into Jinhae area by the influence of Typhoon Judy. In consequence of the typhoon, 38 persons were killed, houses and arable land were demolished and caused wide ranges of landslides in the area. According to the previous investigation, there had been five cases of such typhoons accompanied a daily precipitation over 300 mm for 27 years, however, there had not occurred any landslides before, even though it is reported that any typhoon accompanied by heavy daily rainfalls over 300 mm is normally known to cause various kinds of landslides. This phonomenon was described to the fact that there has been a qualitative change in the agents of landslides such as precipitation, geology, topography and forest. Thus, in this report, the relations of the agents to the development of landslides were to be analysed and brought forth the following confirmation: 1. In the district, 71 landslides of which area covered 15.3 ha were observed. 2. In terms of geology of the landslided sites. 89 and 11% in numbers were observed in the andesite and the granite respectively, and the areas of those landslide estimated 45 and 55% respectively. 3. In a topographical point of view, 44% of the numbers of landslides(55% in area basis) were occurred within the slopes of $26-35^{\circ}$, while no landslides were observed in either lower (below $9^{\circ}$) or upper (above $41^{\circ}$) slopes. In terms of slope patterns, 39 and 33% in numbers (52 and 46% on the basis of area) were observed in concave slopes and compound slopes respectively. 4. In terms of forest ages, the most landslides were observed in 5-15 year-old forest, of which averages were 2.19 landslides per 100 ha and 0.47 ha per 100 ha. However, no landslides were observed in the forest of over 26 years old. 5. Among the agents, precipitation, geology, topography are considered not to be controlled but the only agent, the forest, to be controlled by human beings. Thus, this firstly observed landslides at Jinhae District are conclusively considered as the result of qualitative changes of one agent, the forest, in the area.

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