• Title/Summary/Keyword: general form diagnosis

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Prenatal diagnosis of a de novo ring chromosome 11

  • Park, Ju-Yeon;Lee, Moon-Hee;Lee, Bom-Yi;Lee, Yeon-Woo;Ryu, Hyun-Mee;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.80-83
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    • 2007
  • A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

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Basic Study on the Significance of the Disease Pre-Sign According to the Body form Type (형상(形象) 유형(類型)에 따른 질병 전조(前兆)의 의의(意義)에 대한 기초 연구-내경(內經) 오형입(五型入)을 중심으로-)

  • Kim, Gyeong-Cheol;Lee, Yong-Tae;Ji, Gyu-Yong;Kim, Jong-Won;Lee, In-Sun;Kim, Jong-Hwan;Shin, Woo-Jin
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.23 no.2
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    • pp.301-307
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    • 2009
  • In korean society, the chronic life style diseases are increasing. It is caused by the approach of the aged society and the highly increasing income. Accordingly the preventive side of the health promotion and management is very important. In the oriental medicine, the general disease pre-estimate and the management program are necessary. On this point, the sign forecast is very significant in connection with the disease pre-estimate in the preventive disease management side. The sign forecast according to the human shape type diagnosis is mainly the sign of the super-early stage, The difference of the shape type has the difference of the special affinity about the disease. Accordingly we can find the sign forecast from the latent disease in the early stage. In NAE-GYEONG(內經), the theory of "five body form's type" can be pre-estimated the latent tendency and the clue of the disease and the growing tendency of disease in relation to the Differentiation of Syndrome, In the disease pre-estimate side, the graspe and management of the sign forecast from the latent disease will be the part of the new development.

Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

  • Oh, Yun Kyo;Choi, Koung Eun;Shin, Youn-Jeong;Kim, Eun Ryoung;Kim, Ji Yeon;Kim, Min Sun;Cho, Sung Yoon;Jin, Dong Kyu
    • Neonatal Medicine
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    • v.28 no.3
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    • pp.133-138
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    • 2021
  • Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

A Study on the Physician's Behavior of Notifiable Communicable Diseases Reporting and its Characteristics Related (법정전염병 신고행태 및 관련특성 연구)

  • 이윤현;맹광호
    • Health Policy and Management
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    • v.9 no.4
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    • pp.41-64
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    • 1999
  • The major concern for this research is to discuss and to offer some solutions to bring the effectiveness of existing notifiable diseases reporting system over the physicians' attitudes of reporting, the actual condition of performance and the reasons of inertia in notifiable diseases reporting through examining the physicians of medical institutions in nationwide such as pediatrics, internal medicine and family medicine. The actual conditions of notifiable communicable diseases(NCD) reporting was surveyed by mail objectifying an internal medicine, pediatrics and family medicine in nationwide on the basis of stratified random sampling method divided into the classification of medical institutions and areas. As a result of survey. the rate of respondents showed 145 persons from physicians, 105 persons from hospitals. 120 persons from general hospitals, and 51 persons from tertiary hospitals. The total number of respondents were 421 and was rated 59.0 %. The analysis of collected survey went through a descriptive analysis primarily to grasp physicians' attitudes on the notifiable communicable diseases reporting, and then upon the dependent variables. Following are major findings obtained form the data analysis. 1. The results of a descriptive analysis on physicians' attitudes towards reporting NCD were as follows: First, the respondents who didn't know that yellow fever is reporting NCD were 11.0% of clinic, 10.5% of hospital. 5.0% of general hospital. 11.8% of tertiary hospital. and in case of hepatitis B, were 26.9% of clinic, 35.2% of hospital. 35.0% of general hospital. 23.5% of tertiary hospital. Second, The rate of physicians' knowledge on penalties of not reporting the NCD by their medical institution were 35.2% of clinic, 45.7% of hospital. 36.7% of general hospital. 62.7% of tertiary hospital. Third, among the no-reporting physicians in whole, the major reason of not reporting NCD were uncertainty of diagnosis(78.9%), no need to report(46.4%), no adequate actions from PHC(29.1%), no knowledge of the cases being notifiable ones in the order of their frequencies(30.4%), meddling from PHC(29.1%), concerning of patient's privacy(26.3%). 2. To analyze the characteristics related to the physicians' behaviors to report NCD, univariate and multiple logistic regression analyses were applied to the variables related to physician, 4 medical facility, PHC, and reporting system. The result were as follows: First, the result of the univariate analysis on physicians' attitude to report NCD and characteristics related to reporting in odds ratio was in the case of hospital. 3.4 times higher positive responses on physicians' attitude to report NCD came up as compared to the clinic. Second, the result of the univariate analysis on physicians' action of reporting NCD and characteristics related to reporting by the classification of medical institutions showed that the odds ratio of hospital was 2.3 times, the odds ratio of general hospital was 2.0 times, the odds ratio of tertiary was 6.8 times significantly higher than clinic. And the medical institution with significantly higher positive attitudes rate by multiple logistic regression analysis was hospital that rated 2.5 times significantly higher than clinic. Also in the PHC related characteristics of reporting, the rate of action in reporting NCD was significantly higher in medical institution that were endowed with the good condition of reporting. In multiple logistic regression analysis, the medical institution that has a good conditions of reporting showed a significantly higher positive rate on the action of reporting than the others.

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The Accuracy of Tuberculosis Notification Reports at a Private General Hospital after Enforcement of New Korean Tuberculosis Surveillance System (새로운 국가결핵감시체계 시행 후 한 민간종합병원에서 작성된 결핵정보관리보고서의 정확도 조사)

  • Kim, Cheol Hong;Koh, Won-Jung;Kwon, O Jung;Ahn, Young Mee;Lim, Seong Young;An, Chang Hyeok;Youn, Jong Wook;Hwang, Jung Hye;Suh, Gee Young;Chung, Man Pyo;Kim, Hojoong
    • Tuberculosis and Respiratory Diseases
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    • v.54 no.2
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    • pp.178-190
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    • 2003
  • Background : The committee of tuberculosis(TB) survey planning for the year 2000 decided to construct the Korean Tuberculosis Surveillance System (KTBS), based on a doctor's routine reporting method. The successful keys of the KTBS rely on the precision of the recorded TB notification forms. The purpose of this study was to determine that the accuracy of the TB notification form written at a private general hospital given to the corresponding health center and to improve the comprehensiveness of these reporting systems. Materials and Methods : 291 adult TB patients who had been diagnosed from August 2000 to January 2001, were enrolled in this study. The lists of TB notification forms were compared with the medical records and the various laboratory results; case characteristics, history of previous treatment, examinations for diagnosis, site of the TB by the international classification of the disease, and treatment. Results : In the list of examinations for a diagnosis in 222 pulmonary TB patients, the concordance rate of the 'sputum smear exam' was 76% but that of the 'sputum culture exam' was only 23%. Among the 198 cases of the sputum culture exam labeled 'not examined', 43(21.7%) cases proved to be true 'not examined', 70 cases(35.4%) were proven to be 'culture positive', and 85(43.0%) cases were proven to be 'culture negative'. In the list of examinations for a diagnosis in 69 extrapulmonary TB patients, the concordance rate of the 'smear exam other than sputum' was 54%. In the list of treatments, the overall concordance rate of the 'type of registration' in the TB notification form was 85%. Among the 246 'new' cases on the TB notification form, 217(88%) cases were true 'new' cases and 13 were proven to be 'relapse', 2 were proven to be 'treatment after failure', one was proven to be 'treatment after default', 12 were proven to be 'transferred-in' and one was proven to be 'chronic'. Among the 204 HREZ prescribed regimen, 172(84.3%) patients were taking the HREZ regimen, and the others were prescribed other drug regimens. Conclusion : Correct recording of the TB notification form at the private sectors is necessary for supporting the effective TB surveillance system in Korea.

A Case Report of Isolated Inguinal Tuberculous Lymphadenitis (서혜부 단독 결핵성 림프염의 증례보고)

  • Koo, Hyun-Kook;Kim, Young-Seok;Kim, Min-Joo;Roh, Tai-Suk;Rah, Dong-Kwun
    • Archives of Plastic Surgery
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    • v.37 no.5
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    • pp.705-707
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    • 2010
  • Purpose: Tuberculous lymphadenitis constitutes about 30% of all types of extrapulmonary tuberculosis. Cervical lymphadenitis is the commonest form (70%), followed by axillary and inguinal. But inguinal tuberculous lymphadenitis is rare form. Especially isolated inguinal tuberculous lymphadenitis was seldom reported. In Korea, that case was not reported. This case emphasizes the need for awareness of tuberculosis as a possible cause of isolated inguinal adenitis. Methods: We experienced one case of isolated inguinal tuberculous lymphadenitis. We analyzed clinical features, preoperative assessments and method of treatments. Results: A 37-year-old female patient presented with a painless swelling in the left inguinal region of 12 month's duration. There was no history of urethral discharge, dysuria, genital sores, unprotected sexual contacts or trauma. Examination revealed enlarged left inguinal lymph nodes, $2{\times}1\;cm$, non-tender and firm mass. The external iliac, popliteal, right inguinal and other groups of lymph nodes were normal. Serologic tests, urinary tests and chest radiologic test were normal. The excision of mass was performed under the general anesthesia. A excisional biopsy showed chronic granulomatous inflammation with caseous necrosis, consistent with tuberculosis. After excision, the primary repair was done and completely healed on postoperative 25 days. Conclusion: The isolated inguinal tuberculous lymphadenitis was rare form of inguinal suppurative mass. Although medical management is the principal mode of therapy of tuberculous adenitis and surgery is rarely necessary, we didn't consider the possibility of tuberculous lymphadenitis in our case. A high index of suspicion is essential for a diagnosis of isolated inguinal tuberculous lymphadenitis. Our case emphasizes this importance and illustrates the need for awareness of tuberculosis as a possible cause of isolated inguinal adenitis.

Review on Hyungsang Medicine (형상의학(形象醫學)에 대한 논문 고찰)

  • Seo, Jae-Ho;Park, Young-Bae;Park, Young-Jae
    • The Journal of Korean Medicine
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    • v.34 no.1
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    • pp.52-68
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    • 2013
  • Objectives: Hyungsang medicine (HM) is an inspection which emphasizes the relationships between pathological patterns and one's facial or bodily shape, color and movement. The purpose of this study was to review previously published study results of the HM. Methods: The authors reviewed a total of 51 HM-related studies published from 2000 to 2012 found on PubMed and various domestic Oriental medicine journals. Each study was classified into theoretical, diagnostic, or treatment-related category. Results: Theoretical studies were mostly based on the Nei-Ching and Dong-Eui-Bo-Gam texts, and dealt with differences in form between types such as masculine and feminine, the five organ image types, the four-type categorization of body essence, vital energy (Qi), mentality, and Blood, Gallbladder and Bladder, the four-type categorization of fish, bird, horse, and turtle types, and the six meridian types. Research on diagnosis has been performed on diagnostic characteristics of HM, correlation between HM and general coordinative manipulation (GCM), and Hyungsang medicine and ante-disease pattern (未病類型). Studies on treatments could largely be classified as treatments for specific diseases using certain acupuncture or herbal prescriptions based on HM. Treatments were mostly evaluated solely through subjective symptom improvement of patients. Conclusions: Our review results suggest that HM-related studies were focused on the constitutional characteristics and clinical utility of HM. To strengthen the theoretical basis of HM and its clinical utility, clinical trials including randomized, treatment-placebo and blind methods are needed.

Process operation improvement methodology based on statistical data analysis (통계적 분석기법을 이용한 공정 운전 향상의 방법)

  • Hwang, Dae-Hee;Ahn, Tae-Jin;Han, Chonghun
    • 제어로봇시스템학회:학술대회논문집
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    • 1997.10a
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    • pp.1516-1519
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    • 1997
  • With disseminationof Distributed Control Systems(DCS), the huge amounts of process operation data could have been available and led to figure out process behaviors better on the statistical basis. Until now, the statistical modeling technology has been susally applied to process monitoring and fault diagnosis. however, it has been also thought that these process information, extracted from statistical analysis, might serve a great opportunity for process operation improvements and process improvements. This paper proposed a general methodolgy for process operation improvements including data analysis, backing up the result of analysis based on the methodology, and the mapping physical physical phenomena to the Principal Components(PC) which is the most distinguished feature in the methodology form traditional statistical analyses. The application of the proposed methodology to the Balst Furnace(BF) process has been presented for details. The BF process is one of the complicated processes, due to the highly nonlinear and correlated behaviors, and so the analysis for the process based on the mathematical modeling has been very difficult. So the statisitical analysis has come forward as a alternative way for the useful analysis. Using the proposed methodology, we could interpret the complicated process, the BF, better than any other mathematical methods and find the direction for process operation improvement. The direction of process operationimprovement, in the BF case, is to increase the fludization and the permeability, while decreasing the effect of tapping operation. These guide directions, with those physical meanings, could save fuel cost and process operator's pressure for proper actions, the better set point changes, in addition to the assistance with the better knowledge of the process. Open to set point change, the BF has a variety of steady state modes. In usual almost chemical processes are under the same situation with the BF in the point of multimode steady states. The proposed methodology focused on the application to the multimode steady state process such as the BF, consequently can be applied to any chemical processes set point changing whether operator intervened or not.

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Design and manufacture of supersonic waves system that there is no invasion that there is no stimulation of embedded base for crush bone fracture patient's treatment (II) (파쇄 골절환자의 치료를 위한 임베디드 기반의 무자극, 무침습 초음파 시스템의 설계 및 제작(II))

  • Kim, Whi-Young
    • Journal of the Korea Computer Industry Society
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    • v.7 no.5
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    • pp.583-590
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    • 2006
  • BT technology, medical treatment engineering technology is offering important role and grow by creative technology. Specially, bone fracture treatment can achieve very important role in research of bone, physiology and dynamics of bone is very useful patient's diagnostic and treatment in presence at a sickbed. <중략>Furthermore embedded base of in administration aspect as well as if supersonic waves curer is treatment innocuously and without invasion very efficient tell. If apply supersonic waves in bone fracture treatment, can reduce curer about 40%. Operation frequency through bone fracture treatment supersonic waves curer of embedded base designs and manufactured 1m Hz, 1.2mHz, 1.3mHz, 1.4mHz, supersonic waves origination that have 1.5mHz's tranducer, and embodied protocol in PDA base in this research, and did so that is interfaced to general PC. If is using but supplement research water that see clinically by diagnosis in city, is seen to become convenient medical treatment assistance mounting to bone fracture patient's treatment and courtesy call. Specially, tried to approach basic form after modeling processing if may be applied variously to physiotherapy, orthopaedics patient who gouge late, and study standardization special quality little more.

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Fifth Metatarsal Stress Fracture (운동선수의 제5 중족골 피로골절)

  • Lee, Kyung-Tai;Park, Young-Uk;JeGal, Hyuk;Kim, Jun-Beom
    • Journal of Korean Foot and Ankle Society
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    • v.16 no.2
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    • pp.87-93
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    • 2012
  • Fractures located at the metaphyseal/diaphyseal junction at the base of the fifth metatarsal were first described by Sir Robert Jones in 1902. However, ever since, there has been disagreement and debate regarding the diagnosis, classification, pathomechanics, the incidences, and potential causes of delayed unions and nonunions, and the optimal method of treatment. It appears to be widely agreed that proximal fractures of the metaphyseal/diaphyseal region of the fifth metatarsal are prone to delayed union or even nonunion. Several classifications of proximal fifth metatarsal stress fractures have been devised. Torg et al. classified fractures involving the proximal part of the diaphysis of the fifth metatarsal into three types. The Torg classification is a good grading system that can be used to determine the type of surgery needed as well as for the prediction of prognosis. The ''plantar gap'' might add to the decision-making process for surgery and improve the prediction of patient prognosis. In addition, the new classification using 'plantar gap' might be used for classification of fifth metatarsal stress fracture. Fifth metatarsal stress fractures can be treated conservatively or surgically, and excellent results have been reported for surgery with rapid recovery in athletes. Intramedullary screw fixation has become a popular form of fixation for fifth metatarsal stress fractures. Bone grafting presents the problems of a longer recovery time and additional skin incision for harvesting. The modified tension band wiring is an useful and simple option for surgical treatment of challenging fifth metatarsal stress fractures.