• Title/Summary/Keyword: 주소정보

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A Case of Glycogen Storage Disease Type III Diagnosed by Gene Panel Sequencing (유전자 패널 검사로 진단된 당원병 III형 증례)

  • Kim, Seong Wan;Jang, Ju Young;Lee, Jang Hoon;Sohn, Young Bae;Jang, Ja-Hyun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.1
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    • pp.24-28
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    • 2020
  • Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.

Three-Dimensional Evaluation of Impacted Mesiodens Using Dental Cone-Beam Computed Tomography in Korean Children and Adolescents (치과용 cone beam CT를 이용한 한국인 소아 및 청소년의 매복 정중과잉치에 대한 3차원적 분석)

  • Kim, Sang-Duk;Lee, Sang-Ho;Lee, Nan-Young;Jeon, Sang-Yun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.40 no.3
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    • pp.149-158
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    • 2013
  • The purpose of this study was to evaluate the shape and impacted pattern of mesiodens and associated complications using three dimensional images produced by dental CBCT. This study was based on the CBCT (CB Mercury, Hitachi, Tokyo, Japan) radiographic view of 280 pediatric patients who visited the Department of Pediatric Dentistry at the Chosun University Dental Hospital with the chief complain of mesiodens during between 2007 and 2012. Impacted mesiodens occurs more frequently in boys than in girls, the ratio being approximately 3.3:1 and most cases were observed between 6 and 8 years of age. The number of mesiodens per patient was 1.38. Majority of the mesiodens were conical (79.5%) in shape and inverted (48.6%) in direction. The mesio-distal position of mesiodens were the most common in middle sector (81.8%), vertical level were the most common near cervical (60.3%), and labio-palatal position were the most common at palatal side of the dental arch (73.8%). 47.5% of mesiodens had complications and common complications associated with mesiodens were displaced tooth and delayed eruptions. The shape, vertical level, and labio-palatal position of mesiodens had correlations with complications. CBCT appears to be an excellent diagnostic tool, providing three dimensional information and accurate images, for diagnosis of impacted mesiodens.

Low-power 6LoWPAN Protocol Design (저 전력 6LoWPAN 프로토콜 설계)

  • Kim, Chang-Hoon;Kim, Il-Hyu;Cha, Jung-Woo;Nam, In-Gil;Lee, Chae-Wook
    • Journal of the Institute of Convergence Signal Processing
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    • v.12 no.4
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    • pp.274-280
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    • 2011
  • Due to their rapid growth and new paradigm applications, wireless sensor networks(WSNs) are morphing into low power personal area networks(LoWPANs), which are envisioned to grow radically. The fragmentation and reassembly of IP data packet is one of the most important function in the 6LoWPAN based communication between Internet and wireless sensor network. However, since the 6LoWPAN data unit size is 102 byte for IPv6 MTU size is 1200 byte, it increases the number of fragmentation and reassembly. In order to reduce the number of fragmentation and reassembly, this paper presents a new scheme that can be applicable to 6LoWPAN. When a fragmented packet header is constructed, we can have more space for data. This is because we use 8-bits routing table ill instead of 16-bits or 54-bits MAC address to decide the destination node. Analysis shows that our design has roughly 7% or 22% less transmission number of fragmented packets, depending on MAC address size(16-bits or 54-bits), compared with the previously proposed scheme in RFC4944. The reduced fragmented packet transmission means a low power consumption since the packet transmission is the very high power function in wireless sensor networks. Therefore the presented fragmented transmission scheme is well suited for low-power wireless sensor networks.

Chronic Abdominal Pain-related Childhood Functional Gastrointestinal Disorders Based on the Rome III Criteria in Korea (국내 소아청소년에서 Rome III Criteria에 근거한 만성 복통 관련 기능 위장관 질환 연구)

  • Han, Jae-Joon;Yang, Hye-Ran;Ko, Jae-Sung;Seo, Jeong-Kee
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.12 no.2
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    • pp.111-119
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    • 2009
  • Purpose: Chronic abdominal pain is a common complaint encountered in pediatric clinics. This study aimed to investigate chronic functional abdominal pain in Korean children and adolescents by applying the Rome III criteria. Methods: A prospective study on chronic abdominal pain in 194 patients was conducted between July 2006 and August 2007. The parents of the subjects were asked to respond to a questionnaire based on the Rome III criteria. These responses were evaluated by pediatricians, and subsequently, the patients were clinically evaluated. Results: On the basis of the results of the medical evaluation, 167 of the 194 patients (86.1%) were diagnosed with functional gastrointestinal disorders, i.e., no organic causes of chronic abdominal pain were detected during the medical evaluation. Of these 167 patients, 89.8% of the patients satisfied one of the Rome III criteria, while 10.2% of the patients did not satisfy any of the Rome III criteria for chronic abdominal pain-related functional gastrointestinal disorders (functional dyspepsia, 29.3%; irritable bowel syndrome, 25.7%; abdominal migraine, 7.8%; childhood functional abdominal pain, 27.0%; and childhood functional abdominal pain syndrome, 12.6%). Compared to other symptom subtypes, children with childhood functional abdominal pain experienced an earlier onset and a shorter duration of symptoms. Conclusion: The Rome III criteria are more comprehensive; the use of these criteria will provide more accurate information and better diagnoses for children and adolescents with chronic abdominal pain.

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The Role of Rest Image in Patients Showing Normal Stress Image on Tc-99m Myocardial Perfusion Scan (심근 관류스캔 중 정상 부하영상 소견을 보인 환자에서 휴식기 영상의 필요성에 대한 평가)

  • Bom, Hee-Seung;Song, Ho-Chun;Min, Jung-Jun;Kim, Ji-Yeul
    • The Korean Journal of Nuclear Medicine
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    • v.30 no.4
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    • pp.502-506
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    • 1996
  • Tc-99m myocardial perfusion agents such as Tc-99m sestamibi or Tc-99m tetrofosmin has advantages over T1-201 for myocardial perfusion scan fuck as low attenuation and easy availability. However, Tc-99m agents do not redistribute so they need to be given T times, namely after stress and at rest. To evaluate whether rest image is needed in patients showing normal stress image, 43 patients who underwent both myocardial perfusion scan and coronary angiography and showed normal stress images were evaluated. Findings of rest images of them were evaluated whether they change the diagnosis or treatment plans. Among 43 patients who showed normal stress myocardial perfusion imaging, 31 (72.1%) showed no additional informations. However, among 5 patients with vasospastic angina 4 (80%) showed abnormal rest images in spite of normal stress images. So, when vasospastic angina is suspected clinically, rest image could be helpful in identifying patients with coronary vasospasm. In conclusion, rest myocardial perfusion images were not helpful in 72.1 % of patients with angina when stress images were normal. In only exception was those with vasospastic angina.

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THE DIAGNOSIS OF IMPACTED MAXILLARY MESIODENS USING 3-DIMENSIONAL COMPUTED TOMOGRAPHY : A CASE REPORT (3차원 전산화 단층촬영을 이용한 상악 정중 과잉치의 진단)

  • Hong, Young-Woo;Kim, Seong-Oh;Sohn, Hyung-Kyu;Lee, Jong-Gap
    • Journal of the korean academy of Pediatric Dentistry
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    • v.25 no.3
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    • pp.549-554
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    • 1998
  • The prevalence of the supernumerary tooth is $1{\sim}4%$. It usually occurs in the permanent dentition. It frequently occurs in the maxillary mid palatal area. The presence of the supernumerary tooth causes the following problems ; (1) interfering the eruption of successional tooth, (2) displacing the neighboring teeth, (3) resulting large diastema, (4) forming cystic change. So the supernumerary tooth should be removed as soon as possible. To extract the supernumerary tooth, the exact position must be noticed first. Radiographic techniques that were used in the past are tube shift technique, right angle technique, sterioradiography, using radiopaque contrast media and conventional tomography. But these methods include the subjective opinion of the operator. So, a technique eliminating the operator's opinion and showing the position 3-dimentionally can be used. 3-dimentional computed tomography equipped with dental softwares can show the position of the impacted supernumerally tooth in 3-dimentional position. It has an advantage to eliminate the subjective opinion of the operator. With a fast computer this techenique is done in a relatively short period of time. The rationale of this methods is relatively simple. After tacking X-ray and reconstructing the data 3-dimentionally, sequential removal of the soft tissue and hard tissue(bone) CT number leaves the teeth alone in 3-dimentional position. The image can be seen from anywhere, so the operator can see the image in front, rear, upper, and lower positions. In both cases 1 and 2, the position of the impacted supernumerary tooth is viewed by the 3-dimensional computed tomography. And it made the operator easy to figureout the exact position.

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Maturation of the First Molars in Primary Dentition with Class III Malocclusion (유치열기 골격성과 비골격성 3급 부정교합 환아의 제1대구치 성숙도 비교)

  • Jung, Boram;Kim, Shin;Jeong, Taesung;Kim, Jiyeon
    • Journal of the korean academy of Pediatric Dentistry
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    • v.42 no.2
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    • pp.144-150
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    • 2015
  • Early treatment is recommended for class III malocclusion in the primary dentition, though it is difficult to diagnose correctly. It was recommended dental maturation can possibly be used to make a differential diagnosis of skeletal class III malocclusion. This study aimed to compare dental maturation of first molars in children with skeletal or non-skeletal class III malocclusion in the primary dentition and to determine if dental maturation could be used to make a differential diagnosis of class III malocclusion. Among the children visiting the department of pediatric dentistry in Pusan National University Dental Hospital for anterior crossbite in the primary dentition, 18 were categorized into the non-skeletal class III malocclusion and 34 into the skeletal class III malocclusion. Panoramic radiographs were used to make comparative analysis of dental age and the eruption rate of the first molars. The following results were obtained. No difference was found between chronologic and dental age by the skeletal features or gender, with the latter being older than the former (p < 0.05). The discrepancies in eruption rate of first molars were significantly different between skeletal (18.91%) and non-skeletal groups (16.53%) (p < 0.05). This result implies that maturation of the first molars might be used to make a differential diagnosis of class III malocclusion.

Analysis of the Emergency Medical Service Area Using GIS: the Case of Seoul (GIS를 이용한 응급의료 진료권 분석: 서울시를 사례로 하여)

  • 이희연;박미영
    • Spatial Information Research
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    • v.12 no.2
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    • pp.193-209
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    • 2004
  • The purpose of this study is to analyze the service area of emergency medical centers using GIS-based spatial analysis methods in Seoul, focusing on the behaviour of patients on the choosing of emergency centers. For this analysis, six emergency centers were selected to collect data for the information on the addresses of patients from September to November hi 2003. Analysis on the service area, which was carried out by measuring the distribution of patients in terms of distance from emergency medical centers, clearly reveals that the majority of patients was located within or adjacent districts at the emergency medical center. However, the size of the primary service area f3r six emergency medical centers was much different, implying that the decision to visit specific emergency medical center by patients was closely related to the size, perception, and preference of the emergency medical center. Based on the results of the spatial characteristics of emergency medical service area, this research tries to construct the surface map of the emergency medical service level supplied by 32 regional emergency medical centers located in Seoul. Considering the levels of infrastructure for emergency medical centers, the coverage for the degree of supply of emergency medical service by each emergency medical center was constructed in terms of a distance decaying in the distribution of patients from emergency medical center imposing different weights on distance bands. Spatial overlay utilizing map algebra function was performed in order to calculate total supply level of emergency service. The results clearly show that spatial inequality exists in the supply levels of the emergency medical service among local areas of Seoul.

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A CASE OF PERVASIVE DEVELOPMENTAL DISORDER NOS WITH REPETATIVE SELF-INJURIOUS BEHAVIOR (반복적으로 머리를 때리는 전반성발달장애 환아 1례)

  • Kim, Jeong-Lim;Chung, Bo-In;Cho, Soo-Churl;Hong, Kang-E;Lim, Myung-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.10 no.2
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    • pp.244-251
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    • 1999
  • Self-injurious behavior is often showed in mental retardation, especially in autism. Self-injurious behavior has been regarded as a symptom cluster rather than a disease but it is an emergent clinical situation that can directly affect mortality. This case is about a refractory autistic patient who showed a self-injurious behavior of hitting the head repetitively. He was hospitalized and was treated by pharmacotherapy and behavior therapy and for this reason this clinical experience is reported with literature review. The patient is a 7-year old boy who was ward admitted from 1999 April 20 till July 10 into OO hospital OO ward because of self-injurious behavior. During the 12 weeks he had admission treatment. As for the pharmacotherapy, haloperidol was dosed up from 0.5mg to 1.0mg from the 4th week and combination drug therapy was done during the admission with naltrexone 25-50mg. As for the behavioral therapy, Differential Reinforcement of Other behavior was used and regular play therapy was done. To remove the physical restraint, headgear and hard sleeve was used. Currently, OPD follow up treatment is being done and haloperidol 0.5mg and naltrexone 50mg is maintained. The patient’s mother is educated and play therapy is done an hour daily at home. When the patient was released form the hospital, self-injurious behavior was decreased more than the moderate state and remission state is still being maintained at the outpatient clinic.

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1 Case of Bronchial Leiomyoma with Intralobar Pulmonary Sequestration (폐 격리증을 동반한 기관지내 평활근종 1례)

  • Jung, Bo Yong;Kim, Do Hwan;Park, Eun Seo;Han, Seung Hoe;Kim, Young Tong;Oh, Mi Hye;Lee, Seok Yul;Choi, Jae Sung;Na, Joo Ock;Seo, Ki Hyun;Kim, Yong Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.60 no.6
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    • pp.678-683
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    • 2006
  • Both bronchial leiomyoma and pulmonary sequestration are rare conditions, and to the best of our knowledge there are no reports of the two conditions coexisting. We report a female patient with bronchial leiomyoma with acquired pulmonary sequestration who presented with dyspnea, cough and purulent sputum. The patient had been treated for pneumonia at a local medical clinic. but was transferred to our clinic beacausr there was no clinical improvement. A 3-D computed tomography scan revealed a 1.5 cm sized mass near the distal portion of the left main bronchus and an anomalous artery arising from the aorta. The patient showed clinical improvement after a left lower lobectomy and a ligation of the anomalous artery.