• Title/Summary/Keyword: definite diagnosis

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A Case of Urologic Manifestation of IARS2-associated Leigh Syndrome (IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례)

  • Hyunjoo Lee;Ji-Hoon Na;Young-Mock Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.1
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    • pp.25-30
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    • 2023
  • Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

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REPORT OF EXPERIENCE WITH KIMURA'S DISEASE (기무라씨 질환, 5 예 보고)

  • Seel David J.;Park Yoon-Kyu;Lee Kwang-Min
    • Korean Journal of Head & Neck Oncology
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    • v.5 no.1
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    • pp.39-46
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    • 1989
  • Kimura's Disease is a chronic inflammatory and proliferative condition producing subcutaneous masses especially in the head and neck area. This report of our experience with 5 patients with this disease is the first in the Korean surgical literature. Kimura's Disease is thought to be part of the larger spectrum of the entity known as angiolymphoid hyperplasia with eosinophilia (ALHE). It is characterized pathologically by hyperplastic lymphoid follicles, eosinophilic infiltration, and vase 비 ar proliferation. It produces masses which are most common in the area of the parotid, submandibular gland and upper neck. These masses occupy the subcutaneous tissues but also extend into salivary tissue and into upper neck nodes. One of our patients had masses in the groin. The tumors are extremely vascular due to the presence of new proliferative vessels and sinusoids. The average age of our 5 patients was 35, but all but one case were younger than 38 years of age. The male: female ratio was 3 : 2, and the average duration of symptoms was 5,2years. All patients had peripheral blood eosinophilia. All had multiple masses, sometimes symmetrical. The management was surgery alone in one case, surgery and steroids in one case, surgery and radiotherapy in two cases, and all three modalities in one case. The relationship of this entity to ALHE and our experience in the management of this disease are presented. A clinicopathological discrepancy alerted us to the existence of Kimura's Disease. A nineteen-year old male presented with subcutaneous masses over both mastoid areas present for 3 years (Case III). When biopsy on each side was reported as 'eosinophilic granuloma' we submitted the slides to an internationally expert pathologist. Symmetrically occurring tumors in the peri-parotid subcutaneous areas did not fit any category of neoplasm or granuloma known to us. The diagnosis, made by Dr. Gist Fan at the Ochsner Clinic, was Kimura's Disease. We found two additional cases in a review of soft tissue eosinophilic granuloma previously reported at Presbyterian Medical Center, and since then have diagnosed two new cases. These five cases constitute the basis for this, the largest series to be reported in Korea. These vascular, tumor-like lesions of the skin, subcutaneous areas and subjacent structures of the head and neck have been a variety of names, such as angiolymphoid hyperplasia with eosinophilia, eosinophilic hyperplastic lymphogranuloma, angioblastic lymphoid hyperplasia with eosinophilia, histioid hemangioma, and epithelioid hemangioma. The history of this disease spectrum dates back to 1937 when Kimm and Szeto (1) reported 7 cases of 'eosinophilic hyperplastic lymphogranuloma' in the Proceedings of the Chinese Medical Journal. In 1948 Kimura and his associates(2) reported additional cases in Japan under the title 'On the unusual granulation combined with hyperplastic changes of lymphatic tissue.' From then until 1966 several hundred cases were reported in China and Japan. The first report from the West was by Wells and Whimster(3) in the British Journal of Dermatology, in 1969. These authors coined the term, angiolymphoid hyperplasia with eosinophilia (ALHE). Since that time a debate has ensued as to whether Kimura's Disease and ALHE are distinct entities, or whether Kimura's is part of the larger spectrum of ALHE, perhaps a later or advanced phase. From the clinical perspective, surgeons should be aware of the diagnosis of Kimura's Disease not only as part of the differential diagnosis of head and neck tumors but also because these lesions are indolent, and generally require conservative surgical removal as part of the management program. CASE I. A 37-year-old female company employee presented in August 1982 with submental swelling of 12 years' duration and with inguinal swelling of 7 years' duration. The submental mass measured 5x5cm. and the inguinal mass was 8x4cm. in size. Peripheral eosinophilia varying from 14% to 40% was found. On August 20, 1982, the submental mass was removed and a superficial groin dissection was done. In May 1983 an intraoral lesion of the palate was removed. The patient is free of disease. CASE II. A 23-year-old unemployed man visited this hospital for the first time in July, 1984, with swelling of the right cheek present for 6 years. The mass was soft and ill-defined but measured 10x20cm. and extended from the submandibular upper neck to the zygomatic arch, and from the mastoid to the cheek, over the parotid gland. Eosinophilia varying from 27% to 29% was noted in the peripheral blood. On March 21, 1986, the lesion was resected. The procedure comprised an extended superficial parotidectomy from the temporalis fascia to the upper neck. Post-operatively radiotherapy 3000 rad tissue dose was administered using the 6 MeV linear accelerator. The patient remains free of disease. CASE III. A 19-year-old student came to the clinic with masses over both mastoid areas, present 3 years. On the right there were two adjacent lesions, one over the mastoid, the other in the upper jugular level of the neck. On the left it was a single mass over the mastoid. Eosinophilia varied from 13 to 32% in the peripheral blood, and 11.6% in the bone marrow. Incisional biopsy revealed 'eosinophilic granuloma' and a trial of predisolone was employed. The mass increased in size so a small dose of radiation (600 rads) was used, with substantial regression,. The lesion on the left was excised and follwed by 1000 rads radiotherapy. Finally recurrent tumor on the right side was removed on November 5, 1985. The patient remains free of disease. CASE N. A 29-year-old local merchant had had swelling of both upper necks since childhood. At the time of his first visit on March 17, 1986, the right submandibular mass measured 5x3.5cm. and the ,right upper neck and parotid tail mass measured 2.5cm. On the left there were masses in the upper neck, the largest of which measured 2.5cm, and of the parotid tail, 2.0cm. in size.(See Fig. 1) Peripheral eosinophilia of 39% was recorded. Left side partial parotidectomy and resection of the upper neck and subdigstric mases was done on May 2, 1986. The mass involving the right parotid tail and upper neck nodes was removed on Angust 7,1986. Postoperatively the patient was placed on prednisolone 30 mg. per day. No definite masses are palpable. CASE V. A 66-year-old housewife informed us, at the time of her first visit in May, 1986, that she had had multiple neck masses since 10 years ago. On the right side there was a 2.5cm. subcutaneous mass of the upper neck, over the upper jugular chain. On the left there was a 9x4.5cm. mass involving the entire parotid, the post-auricular area and the upper neck. A third mass presented in the submental area and measured 3.5cm. (See Fig. 2) Eosinophilia of 51% was noted in the peripheral blood. partial excision of the left upper neck lesion and complete excision of the submental mass were performed on june 6, 1986. post-operatively she was placed on 20 mg. of prednisolone daily, but when the mass re-grew after two months she was referred to Radiation Therapy for a 2500 rad course of treatment. A barely palpable thickening remains.

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The Characteristics and Fates of Pulmonary Tuberculosis Patients Seen at Medical Department of A Medium Sized General Hospital (부산에 한 중형 종합 병원 내과에서의 폐결핵 환자의 양상과 귀결)

  • Kim, Young-Hyo;Park, Ki-Chan;Bae, Seong;Lee, Sang-Hun;Chun, Myung-Ho;Lee, Sang-Ki;Jun, Kwang-Su;Lee, Chan-Se
    • Tuberculosis and Respiratory Diseases
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    • v.39 no.5
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    • pp.417-424
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    • 1992
  • Background: There were many reports about the clinical aspect and outcomes of pulmonary tuberculosis in health center but few in a medium sized general hospital. The purposes of this study were to find any characteristic differencies in the patients and the general outcomes of the treatments and also to give some suggestive points for the insurance policy making. Methods: We made a retrograde analysis of the medical records of 1981 patients (male 992 female 1,059) who attended our clinics of the 4th internal department, Daedong general hospital during two years from January 1989 to December 1990. Result: 1) Of 1981 patients, 96 were diagnosed as pulmonary tuberculosis taking relatively large proportion in the prevalence. The ratio of prevalence between male and female was 7.81% to 2.27%. The 61.46% were the first diagnosis & initial treatment cases and the remaining 38.54% were the retreatment cases with no statistical significance between sex. 2) The most prevalent age group was between 21~40 years old and the prevalence rate was 45.45% of male and 76.76% of female. The lowest age group in male patient was above 61 showed 3.03%, and there was no female patients above age 60 years old. This phenomena could be thought as the negligence for the treatment of pulmonary tuberculosis in the old age groups rather than true tuberculosis prevalence and it could be proved by the higher rates towards old age groups in the national tuberculosis prevalence survey. 3) There were 57.07% of the minimal case, 48.96% of the moderate, 18.75% of the far advanced. The sputum examination showed 37.07% were culture positive, 46.88% were the negative, and 15.63% of the patients had no stutum examination. Moreover, uncoperatives among the far advanced cases were notable showing 22.22% of the stutum examination, where 16.13% in the minimal cases. The stutum positive rate among the initial treatment cases were 41.07% and 55.00% for the retreatment cases. The sputum no examination rates were 17.86% and 12.50% respectively. 4) The classfication of the mode of disease onset showed 68.75% with gradual onset, 9.38% hemoptic, 3.13% acute pneumonic and 18.75% was found through the radiologic examination in various occasions. 5) The percentages of patients who continued their treatment for more than 8 month were 35.71% (for initial treatment), 25.00% (for retrement), 16.13% (for the minimal), 27.78% (for the far advanced). 6) The group of patients who were treated more than 8 months showed the negative conversion rate of 80% on sputum and marked improvement on chest x-ray in 56.67%. However, in far advanced or retreatment cases, the rate of negative conversion on sputum and the rate of improvement on chest x-ray were low being 60% and 20% for the former and 60% and 10% for the latter, each respectively. Conclusion: It would be strongly emphasized that the improvement of National medical insurance system and social welfare system in Korea must be definite to improve overall treatment and control of tuberculosis diseases as well as physician's devotious National tuberculosis control policy.

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A Comparative Study of the Standard Uptake Values of the PET Reconstruction Methods; Using Contrast Enhanced CT and Non Contrast Enhanced CT (PET/CT 영상에서 조영제를 사용하지 않은 CT와 조영제를 사용한 CT를 이용한 감쇠보정에 따른 표준화섭취계수의 비교)

  • Lee, Seung-Jae;Park, Hoon-Hee;Ahn, Sha-Ron;Oh, Shin-Hyun;NamKoong, Heuk;Lim, Han-Sang;Kim, Jae-Sam;Lee, Chang-Ho
    • The Korean Journal of Nuclear Medicine Technology
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    • v.12 no.3
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    • pp.235-240
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    • 2008
  • Purpose: At the beginning of PET/CT, Computed Tomography was mainly used only for Attenuation Correction (AC), but as the performance of the CT have been increase, it could give improved diagnostic information with Contrast Media. But it was controversial that Contrast Media could affect AC on PET/CT scan. Some submitted thesis' show that Contrast Media could overestimate when it is for AC data processing. On the contrary, the opinion that Contrast Media could be possible to affect the alteration of SUV because of the overestimated AC. But it does not have a definite effect on the diagnosis. Thus, the affection of Contrast Media on AC was investigated in this study. Materials and Methods: Patient inclusion criteria required a history of a malignancy and performance of an integrated PET/CT scan and contrast- enhanced CT scan within a 1-day period. Thirty oncologic patients who had PET/CT scan from December 2007 to June 2008 underwent staging evaluation and met these criteria. All patients fasted for at least 6 hr before the IV injection of approximately 5.6 MBq/kg (0.15 mCi/kg) of $^{18}F$-FDG and were scanned about 60 min after injection. All patients had a whole body PET/CT performed without IV contrast media followed by a contrast-enhanced CT on the Discovery STe PET/CT scanner. CT data were used for AC and PET images came out after AC. The ROIs drew and measured SUV. A paired t-test of these results was performed to assess the significance of the difference between the SUV obtained from the two attenuation corrected PET images. Results: The mean and maximum Standardized Uptake Values (SUV) for different regions averaged over all Patients. Comparing before using Contrast Media and after using, Most of ROIs have the increased SUV when it did Contrast Enhanced CT compare to Non-Contrast enhanced CT. All regions have increased SUV and also their p value was under 0.05 except the mean SUV of the Heart region. Conclusion: In this regard, the effect on SUV measurements that occurs when a contrast-enhanced CT is used for attenuation correction could have significant clinical ramifications. But some submitted thesis insisted that the percentage change in SUV that can determine or modify clinical management of oncology patients is small. Because there was not much difference that could be discovered by interpreter. But obviously the numerical change was occurred and on the stage finding primary region, small change would be base line, such as the region of liver which has greater change than the other regions needs more attention.

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Animal Infectious Diseases Prevention through Big Data and Deep Learning (빅데이터와 딥러닝을 활용한 동물 감염병 확산 차단)

  • Kim, Sung Hyun;Choi, Joon Ki;Kim, Jae Seok;Jang, Ah Reum;Lee, Jae Ho;Cha, Kyung Jin;Lee, Sang Won
    • Journal of Intelligence and Information Systems
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    • v.24 no.4
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    • pp.137-154
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    • 2018
  • Animal infectious diseases, such as avian influenza and foot and mouth disease, occur almost every year and cause huge economic and social damage to the country. In order to prevent this, the anti-quarantine authorities have tried various human and material endeavors, but the infectious diseases have continued to occur. Avian influenza is known to be developed in 1878 and it rose as a national issue due to its high lethality. Food and mouth disease is considered as most critical animal infectious disease internationally. In a nation where this disease has not been spread, food and mouth disease is recognized as economic disease or political disease because it restricts international trade by making it complex to import processed and non-processed live stock, and also quarantine is costly. In a society where whole nation is connected by zone of life, there is no way to prevent the spread of infectious disease fully. Hence, there is a need to be aware of occurrence of the disease and to take action before it is distributed. Epidemiological investigation on definite diagnosis target is implemented and measures are taken to prevent the spread of disease according to the investigation results, simultaneously with the confirmation of both human infectious disease and animal infectious disease. The foundation of epidemiological investigation is figuring out to where one has been, and whom he or she has met. In a data perspective, this can be defined as an action taken to predict the cause of disease outbreak, outbreak location, and future infection, by collecting and analyzing geographic data and relation data. Recently, an attempt has been made to develop a prediction model of infectious disease by using Big Data and deep learning technology, but there is no active research on model building studies and case reports. KT and the Ministry of Science and ICT have been carrying out big data projects since 2014 as part of national R &D projects to analyze and predict the route of livestock related vehicles. To prevent animal infectious diseases, the researchers first developed a prediction model based on a regression analysis using vehicle movement data. After that, more accurate prediction model was constructed using machine learning algorithms such as Logistic Regression, Lasso, Support Vector Machine and Random Forest. In particular, the prediction model for 2017 added the risk of diffusion to the facilities, and the performance of the model was improved by considering the hyper-parameters of the modeling in various ways. Confusion Matrix and ROC Curve show that the model constructed in 2017 is superior to the machine learning model. The difference between the2016 model and the 2017 model is that visiting information on facilities such as feed factory and slaughter house, and information on bird livestock, which was limited to chicken and duck but now expanded to goose and quail, has been used for analysis in the later model. In addition, an explanation of the results was added to help the authorities in making decisions and to establish a basis for persuading stakeholders in 2017. This study reports an animal infectious disease prevention system which is constructed on the basis of hazardous vehicle movement, farm and environment Big Data. The significance of this study is that it describes the evolution process of the prediction model using Big Data which is used in the field and the model is expected to be more complete if the form of viruses is put into consideration. This will contribute to data utilization and analysis model development in related field. In addition, we expect that the system constructed in this study will provide more preventive and effective prevention.