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A Newborn Case of Maple Syrup Urine Disease Type 1B Presenting with Lethargy and Central Apnea (기면과 중추성 무호흡으로 나타난 단풍시럽뇨병 Type 1B 신생아 1례)

  • Kang, Youngtae;Choi, Sung Hwan;Ko, Jung Min;Shin, Seung Han;Kim, Ee-Kyung;Kim, Han-Suk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.43-49
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    • 2018
  • Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

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Full mouth Rehabilitation with Orthognathic Surgery in Facial Asymmetry Patient : Case Report (안면 비대칭환자의 악교정 수술을 동반한 완전구강회복)

  • Im, So-Min;Shin, Hyoung-Joo;Kim, Dae-Gon;Park, Chan-Jin;Cho, Lee-Ra
    • Journal of Dental Rehabilitation and Applied Science
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    • v.26 no.3
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    • pp.359-371
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    • 2010
  • Facial asymmetry has been found with a higher frequency (70~84%) in skeletal class III malocclusion patients. Anticipating the poor prognosis of prosthesis due to malocclusion, occlusal stability must be obtained by orthodontic treatment. Moreover, orthodontic surgery would be needed in some severe cases for better functional and esthetic results. The orthognathic surgery is performed on one jaw or two jaw depending on the results of facial diagnosis. Genioplasty may change the vertical, horizontal, sagittal position of chin by osteotomy or augmentation using implants, also. This case is about a 24 year-old male patient who visited our clinic to solve the facial asymmetry and mandibular prognathism. Skeletal class III malocclusion, maxillary canting and menton deviation to left by 13 mm were detected. Multiple ill-fitting prostheses, unesthetic maxillary anterior prostheses, and several dental caries were found. After pre-operative orthodontic treatment, Le-Fort I osteotomy, sagittal split ramus osteotomy, genioplasty, right mandibular angle augmentation were done for the correction of jaw relation and asymmetry. By diagnostic wax-up after post-operative orthodontic treatment, maxillary full mouth rehabilitation and mandibular posterior restorations were planned out. For better result, clinical crown lengthening procedure was done on #11, 12 and implant was placed on left mandibular first molar area. The patient was satisfied with the final prostheses. Because of his high caries risk, long-term prognosis will depend on the consistent maintenance of oral hygiene and periodic follow-up.

Music Recall Technique for Affect Modification using Stimulative-Sedative Music : Case Study of Anorexia Nervosa (자극성-진정성 음악을 이용한 부적 정서 조절의 음악회상기법 (Music Recall Technique) : 신경성 식욕부진증 환자의 사례 연구)

  • Gill, Su Yeon
    • Journal of Music and Human Behavior
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    • v.2 no.1
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    • pp.1-15
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    • 2005
  • The purpose of this study is to develop Music Recall Technique for affect modification using programmed series of classical music, and further to apply the technique as therapeutic intervention for clients with anorexia nervosa. Music Recall Technique is composed of two sub-technique: first one is 'Music Recall(MR)' which is the way to reproduce of existing music on one's head and mind after listening to the music, and second intervention is 'Creative Music Recall(CMR)' which is the way to modify the exposed musical pieces or newly learned musical pieces. A client with anorexia nervosa with severe anxiety, anger and depression participated in this case study. The MRT is implemented in different stages pertaining to client's level of utilizing the music recall skill for the period of 10 sessions. Situations eliciting negative emotions were identified and music recalling was reinforced for the pertaining situation in order for the negative emotion to be coped and reduced by the end of session time. The client participated for 10 sessions, and was asked to fill out self-report on the affect change using MRT. Visual Analogue Scale was used for pre and post test for each session to measure the self perceived level of negative affect. State-trait anxiety inventory was also used to measure the anxiety level following the implementation of MRT. As results, negative emotions, such as anxiety, anger and depression were modified during stimulative-sedative music recall process. These negative emotions were decreased mostly during stimulative MR, especially, in the beginning process. Each negative affect on negative situation measured by VAS during each and entire session have been decreased. Negative emotion measured by state-trait anxiety inventory, state-trait anger expression inventory, and hopelessness-depression inventory were decreased as well. The results suggest that stimulative music using contemporary classic music was effective in reduction and modification of negative affect such as anxiety, anger and depression. It shows that Music Recall Technique can be a meaningful intervention for affect modification, and further it can be utilized as self-help in the outside of music therapy setting.

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Computer Assisted EPID Analysis of Breast Intrafractional and Interfractional Positioning Error (유방암 방사선치료에 있어 치료도중 및 분할치료 간 위치오차에 대한 전자포탈영상의 컴퓨터를 이용한 자동 분석)

  • Sohn Jason W.;Mansur David B.;Monroe James I.;Drzymala Robert E.;Jin Ho-Sang;Suh Tae-Suk;Dempsey James F.;Klein Eric E.
    • Progress in Medical Physics
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    • v.17 no.1
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    • pp.24-31
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    • 2006
  • Automated analysis software was developed to measure the magnitude of the intrafractional and interfractional errors during breast radiation treatments. Error analysis results are important for determining suitable planning target volumes (PTV) prior to Implementing breast-conserving 3-D conformal radiation treatment (CRT). The electrical portal imaging device (EPID) used for this study was a Portal Vision LC250 liquid-filled ionization detector (fast frame-averaging mode, 1.4 frames per second, 256X256 pixels). Twelve patients were imaged for a minimum of 7 treatment days. During each treatment day, an average of 8 to 9 images per field were acquired (dose rate of 400 MU/minute). We developed automated image analysis software to quantitatively analyze 2,931 images (encompassing 720 measurements). Standard deviations ($\sigma$) of intrafractional (breathing motion) and intefractional (setup uncertainty) errors were calculated. The PTV margin to include the clinical target volume (CTV) with 95% confidence level was calculated as $2\;(1.96\;{\sigma})$. To compensate for intra-fractional error (mainly due to breathing motion) the required PTV margin ranged from 2 mm to 4 mm. However, PTV margins compensating for intefractional error ranged from 7 mm to 31 mm. The total average error observed for 12 patients was 17 mm. The intefractional setup error ranged from 2 to 15 times larger than intrafractional errors associated with breathing motion. Prior to 3-D conformal radiation treatment or IMRT breast treatment, the magnitude of setup errors must be measured and properly incorporated into the PTV. To reduce large PTVs for breast IMRT or 3-D CRT, an image-guided system would be extremely valuable, if not required. EPID systems should incorporate automated analysis software as described in this report to process and take advantage of the large numbers of EPID images available for error analysis which will help Individual clinics arrive at an appropriate PTV for their practice. Such systems can also provide valuable patient monitoring information with minimal effort.

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Management and Use of Oral History Archives on Forced Mobilization -Centering on oral history archives collected by the Truth Commission on Forced Mobilization under the Japanese Imperialism Republic of Korea- (강제동원 구술자료의 관리와 활용 -일제강점하강제동원피해진상규명위원회 소장 구술자료를 중심으로-)

  • Kwon, Mi-Hyun
    • The Korean Journal of Archival Studies
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    • no.16
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    • pp.303-339
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    • 2007
  • "The damage incurred from forced mobilization under the Japanese Imperialism" means the life, physical, and property damage suffered by those who were forced to lead a life as soldiers, civilians attached to the military, laborers, and comfort women forcibly mobilized by the Japanese Imperialists during the period between the Manchurian Incident and the Pacific War. Up to the present time, every effort to restore the history on such a compulsory mobilization-borne damage has been made by the damaged parties, bereaved families, civil organizations, and academic circles concerned; as a result, on March 5, 2004, Disclosure act of Forced Mobilization under the Japanese Imperialism[part of it was partially revised on May 17, 2007]was officially established and proclaimed. On the basis of this law, the Truth Commission on Forced Mobilization under the Japanese Imperialism Republic of Korea[Compulsory Mobilization Commission hence after] was launched under the jurisdiction of the Prime Minister on November 10, 2004. Since February 1, 2005, this organ has begun its work with the aim of looking into the real aspects of damage incurred from compulsory mobilization under the Japanese Imperialism, by which making the historical truth open to the world. The major business of this organ is to receive the damage report and investigation of the reported damage[examination of the alleged victims and bereaved families, and decision-making], receipt of the application for the fact-finding & fact finding; fact finding and matters impossible to make judgment; correction of a family register subsequent to the damage judgement; collection & analysis of data concerning compulsory mobilization at home and from abroad and writing up of a report; exhumation of the remains, remains saving, their repatriation, and building project for historical records hall and museum & memorial place, etc. The Truth Commission on Compulsory Mobilization has dug out and collected a variety of records to meet the examination of the damage and fact finding business. As is often the case with other history of damage, the records which had already been made open to the public or have been newly dug out usually have their limits to ascertaining of the diverse historical context involved in compulsory mobilization in their quantity or quality. Of course, there may happen a case where the interested parties' story can fill the vacancy of records or has its foundational value more than its related record itself. The Truth Commission on Compulsory mobilization generated a variety of oral history records through oral interviews with the alleged damage-suffered survivors and puts those data to use for examination business, attempting to make use of those data for public use while managing those on a systematic method. The Truth Commission on compulsory mobilization-possessed oral history archives were generated based on a drastic planning from the beginning of their generation, and induced digital medium-based production of those data while bearing the conveniences of their management and usage in mind from the stage of production. In addition, in order to surpass the limits of the oral history archives produced in the process of the investigating process, this organ conducted several special training sessions for the interviewees and let the interviewees leave their real context in time of their oral testimony in an interview journal. The Truth Commission on compulsory mobilization isn't equipped with an extra records management system for the management of the collected archives. The digital archives are generated through the management system of the real aspects of damage and electronic approval system, and they plays a role in registering and searching the produced, collected, and contributed records. The oral history archives are registered at the digital archive and preserved together with real records. The collected oral history archives are technically classified at the same time of their registration and given a proper number for registration, classification, and keeping. The Truth Commission on compulsory mobilization has continued its publication of oral history archives collection for the positive use of them and is also planning on producing an image-based matters. The oral history archives collected by this organ are produced, managed and used in as positive a way as possible surpassing the limits produced in the process of investigation business and budgetary deficits as well as the absence of records management system, etc. as the form of time-limit structure. The accumulated oral history archives, if a historical records hall and museum should be built as regulated in Disclosure act of forced mobilization, would be more systematically managed and used for the public users.

Radioimmunoassay Reagent Survey and Evaluation (검사별 radioimmunoassay시약 조사 및 비교실험)

  • Kim, Ji-Na;An, Jae-seok;Jeon, Young-woo;Yoon, Sang-hyuk;Kim, Yoon-cheol
    • The Korean Journal of Nuclear Medicine Technology
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    • v.25 no.1
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    • pp.34-40
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    • 2021
  • Purpose If a new test is introduced or reagents are changed in the laboratory of a medical institution, the characteristics of the test should be analyzed according to the procedure and the assessment of reagents should be made. However, several necessary conditions must be met to perform all required comparative evaluations, first enough samples should be prepared for each test, and secondly, various reagents applicable to the comparative evaluations must be supplied. Even if enough comparative evaluations have been done, there is a limit to the fact that the data variation for the new reagent represents the overall patient data variation, The fact puts a burden on the laboratory to the change the reagent. Due to these various difficulties, reagent changes in the laboratory are limited. In order to introduce a competitive bid, the institute conducted a full investigation of Radioimmunoassay(RIA) reagents for each test and established the range of reagents available in the laboratory through comparative evaluations. We wanted to share this process. Materials and Methods There are 20 items of tests conducted in our laboratory except for consignment tests. For each test, RIA reagents that can be used were fully investigated with the reference to external quality control report. and the manuals for each reagent were obtained. Each reagent was checked for the manual to check the test method, Incubation time, sample volume needed for the test. After that, the primary selection was made according to whether it was available in this laboratory. The primary selected reagents were supplied with 2kits based on 100tests, and the data correlation test, sensitivity measurement, recovery rate measurement, and dilution test were conducted. The secondary selection was performed according to the results of the comparative evaluation. The reagents that passed the primary and secondary selections were submitted to the competitive bidding list. In the case of reagent is designated as a singular, we submitted a explanatory statement with the data obtained during the primary and secondary selection processes. Results Excluded from the primary selection was the case where TAT was expected to be delayed at the moment, and it was impossible to apply to our equipment due to the large volume of reagents used during the test. In the primary selection, there were five items which only one reagent was available.(squamous cell carcinoma Ag(SCC Ag), β-human chorionic gonadotropin(β-HCG), vitamin B12, folate, free testosterone), two reagents were available(CA19-9, CA125, CA72-4, ferritin, thyroglobulin antibody(TG Ab), microsomal antibody(Mic Ab), thyroid stimulating hormone-receptor-antibody(TSH-R-Ab), calcitonin), three reagents were available (triiodothyronine(T3), Tree T3, Free T4, TSH, intact parathyroid hormone(intact PTH)) and four reagents were available are carcinoembryonic antigen(CEA), TG. In the secondary selection, there were eight items which only one reagent was available.(ferritin, TG, CA19-9, SCC, β-HCG, vitaminB12, folate, free testosterone), two reagents were available(TG Ab, Mic Ab, TSH-R-Ab, CA125, CA72-4, intact PTH, calcitonin), three reagents were available(T3, Tree T3, Free T4, TSH, CEA). Reasons excluded from the secondary selection were the lack of reagent supply for comparative evaluations, the problems with data reproducibility, and the inability to accept data variations. The most problematic part of comparative evaluations was sample collection. It didn't matter if the number of samples requested was large and the capacity needed for the test was small. It was difficult to collect various concentration samples in the case of a small number of tests(100 cases per month or less), and it was difficult to conduct a recovery rate test in the case of a relatively large volume of samples required for a single test(more than 100 uL). In addition, the lack of dilution solution or standard zero material for sensitivity measurement or dilution tests was one of the problems. Conclusion Comparative evaluation for changing test reagents require appropriate preparation time to collect diverse and sufficient samples. In addition, setting the total sample volume and reagent volume range required for comparative evaluations, depending on the sample volume and reagent volume required for one test, will reduce the burden of sample collection and planning for each comparative evaluation.

Treatment of Osteoid Osteoma (유골 골종의 치료)

  • Han, Chung-Soo;Cho, Chang-Hyun;Cho, Young-Lin;Cho, Nam-Su;Lim, Chan-Teak
    • The Journal of the Korean bone and joint tumor society
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    • v.6 no.1
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    • pp.22-29
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    • 2000
  • Purpose : The purpose of the current study was to report the results of curettage and en bloc excision as well as to introduce how to excise the nidus percutaneously with Halo-mill. Material and Methods : Twenty patients(14 men and 6 women) were evaluated, who had operative treatments after diagnosed as osteoid osteoma from March 1990 to January 1998. These patients ranged in age from 7 to 42 years(average: 20.8 years). Locations were 9 femurs, 6 tibias, 2 vertebras, 1 ulna, 1 maxilla and 1 skull. Nine femoral lesions included 5 proximal metaphysis, 2 neck and 2 diaphysis, while 5 tibial lesions included 3 diaphysis, 1 proximal metaphysis and 1 distal metaphysis. We used simple radiography, bone scan, CT and MRI for the accurate diagnosis and localization. As for surgical treatments, while excision and curettage had to need open-exposure of lesion, the percutaneous excision of nidus did not need openexposure : guided Halo-mill into K-wire inserted to nidus under image intensifier. Results : Simple radiography showed that 10 cases had typical nidus and others had only cortical sclerosis. Bone scan was performed at 14 cases and all had hot uptake except one case. We used CT in 10 cases and MRI in 4 cases as diagnostic methods, of which 1 case didn't reveal nidus at CT. Surgical treatment consisted of 6 curettages, 11 excisions, 2 percutaneous excisions with halo-mill and 1 total elbow arthroplasty. We used 7mm sized Halo-mill. During the follow-up period, all patient relieved symptoms and there were no recurrences. All had histologically typical findings except one which had hyperostosis without nidus. Conclusion : Complete removal of the nidus is the most important factor in the treatment. We could excise the nidus percutaneously in 2 cases with the minimal injury to surrounding soft tissues. If we could evaluate the precise location, size of nidus and percutaneous acccesibility, the percutaneous excision of nidus with Halo-mill could be an alternative method as a treatment of osteoid osteoma.

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Coronary Artery Bypass Surgery Using Retrograde Cardioplegics (역행성 심정지액을 이용한 관상동맥 우회술)

  • Mun, Hyeon-Jong;Kim, Gi-Bong;No, Jun-Ryang
    • Journal of Chest Surgery
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    • v.30 no.1
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    • pp.27-33
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    • 1997
  • Retrograde myocardial protection is widely accepted in CABG operation because of the limitations of the antegrade method in the coronary arterial stenosis lesions. We analyzed 76 c ses of retrograde myocardial protection among 96 cases of CABG operation performed between April 1994 and August 1995, There were 48 males and 25 females, and the mean age was 58.2 $\pm$ 8.3 years. 53 patients (70%) were operated for unstable angina, 14 (18%) for stable angina, 6 (8%) for post-infarct angina, 1 (1%) for acute myocardial infarction, and 2()%) for failed PTCA. Preoperative coronary angiography revealed 3-vessel disease in 42 cases, 2-vessel disease in 11, 1-vessel disease in 10, and left main disease in 13 cases. We used SVG(63 cases), LIMA(69 cases), RIMA(11 cases), radial artery(6 cases), and gastroepiploic artery(1 case) for the grafts. Mean anastomosis was 3.2 $\pm$ 1.1. We protected the myocardium with antegrade induction and retrograde maintenance in all the cases except a case of retrograde induction and maintenance. During the aortic cross-clamping, blood cardioplegia was administered intermittently in 19 cases, and continuously in 57 In 39 cases, we used retrograde ardioplegia and antegrade perfusion of RCA graft simultaneously. We had no operative motality. Perioperative complications were arrhythmia in 15 cases, perioperatve myocardial infarction in 10, low cardiac output syndrome In 8, transient neurologic problem in 7, transient psychiatric problem in 6, ARF in 3, bleeding in 2, pneumonia in 2, wound infection in 1, and duodenal ulcer perforation in 1 . In this report, we experienced 76 cases of CABG operation with retrograde myocardial protection under the acceptable operative risk without operative mortality.

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A Clinical Study of Aseptic Meningitis in the Northern Area of Seoul in 2002 (2002년 서울 북부지역에서 유행한 무균성 수막염의 임상적 고찰)

  • Song, Myoung Hak;Chung, Ju Young;Kwon, Ji Won;Kim, Sang Woo
    • Pediatric Infection and Vaccine
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    • v.11 no.2
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    • pp.176-182
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    • 2004
  • Purpose : The etiologic agents of aseptic meningitis remain mostly unknown due to difficulty of viral culture and identification. There was an outbreak of aseptic meningitis in northern area of Seoul from June to August, 2002. We report the clinical features, laboratory data and causative viruses on 196 children with aseptic meningitis during this period. Methods : We retrospectively studied about clinical manifestations and laboratory findings 196 patients diagnosed as aseptic meningitis at Sanggye-Paik hospital. Virus isolation and serotype identification were performed by cell culture and reverse transcription polymerase chain reaction(RT-PCR) of the cerebrospinal fluid. Results : The male to female ratio was 1.39 : 1 and the mean age was 5.8+3 years. The clinical manifestations were fever, headache and vomiting. It occurred mostly in June, July and August. The numbers of peripheral blood leukocytes were $4,800{\sim}24,360/mm^3$. On cerebrospinal fluid examinations, leukocytes were in range of 10~2,000(mean 105)/$mm^3$, protein level in range of 15~171(mean 41.4) mg/dL and glucose level from 16~97(mean 57.9) mg/dL. Viral culture of cerebrospinal fluid showed 3 cases of Echovirus 9, 1 case of 25 and 30. In stool culture, 2 cases of Echovirus 6, 2 cases of Echovirus 13 and 1 case of Echovirus 30 were isolated. Conclusion : The etiologic viruses of the aseptic meningitis in northern area of Seoul in 2002 are presumed to be Echovirus 6, 9, 13, 25, 30.

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Biological Identity of Hwangchung and History on the Control of Hwangchung Outbreaks in Joseon Dynasty Analyzed through the Database Program on the Annals of the Joseon Dynasty and the Enrollment of Haegoeje (조선왕조실록과 해괴제등록 분석을 통한 황충(蝗蟲)의 실체와 방제 역사)

  • Park, Hae-Chul;Han, Man-Jong;Lee, Young-Bo;Lee, Gwan-Seok;Kang, Tae-Hwa;Han, Tae-Man;Hwang, Seok-Jo;Kim, Tae-Woo
    • Korean journal of applied entomology
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    • v.49 no.4
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    • pp.375-384
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    • 2010
  • We tried to establish the history of outbreaks and control methods of 'hwangchung' in Joseon Dynasty, uncovering the biological reality of the 'hwangchung' (called hwang or bihwang) analyzed through the Database program on 'the Annals of the Joseon Dynasty' and 'the Emollment of Haegoeje', two of the finest examples of classical historical records. The total number of articles on the outbreak of the hwangchung is 261 in the Annals of the Joseon Dynasty and 65 in the Emollment of Haegoeje. There were four peaks by hwangchung throughout the Joseon Era. Among them, the periods of King Taejo to King Sejong had the highest incidence. By comparing the number of records of the hwangchung from the Annals of the Joseon Dynasty with that in the Emollment of Haegoeje during the same period, results show the former was less than the latter, 35 vs 65. However, both records were relatively inconsistent with each other. Insect pests in forests as well as in agriculture were included in the biological identities of the hwangchung in the Joseon Dynasty periods, which is in accordance with those of Saigo's. The taxonomic identity could be confirmed in only 25 cases (9.5%) among the articles on hwangchung. It largely coincided with Paik's opinion: II in armyworm, nine in moth larva, one in rice stem borer, two in migratory locust, one in planthopper and one in rice-plant weevil. Therefore, it is not reasonable to regard hwangchung as a migratory locust or grasshopper only. The number of reports on the occurrence of hwangchung in the Annals of the Joseon Dynasty was 173 (66% of the total) and 47% of them were just simple reports, which means the report itself on the appearance of hwangchung was very significant. The reports on controlling insect pests were of low frequency, in 20% (34 cases) of the total reports, capturing insect pests or holding traditional ceremony called 'Poje'. Among them, only one case related to the treatment of seeds to prevent the damage by hwangchung was published in the King Sejong period. There were 37 discussions about changes and management of government policies due to disasters by hwangchung. They were mostly about relief or tax cut to the people who suffered damage and about cancellation of recruiting people to military training, constructing castles, and so on. It seems that not only the people but also the king was influenced by the hwangchung. In the case of King Seongjong, he referred to the stress of the prevention measure of locusts in 10 articles. The damage also had an effect on abdication in the reign of King Jeongjong.