• Title/Summary/Keyword: 환자 선별

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18-year Follow-up of Extended Newborn Screening for Metabolic and Endocrine Disorders (대사 및 내분비 질환에 대한 광범위 신생아 선별 검사의 18년 추적 관찰)

  • Song, Wung Joo;Lee, Sunho;Jeon, Young Mi;Kim, Sook Za;Jang, Mea Young
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.35-42
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    • 2018
  • Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.

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Clinical Importance of the Resection Margin Distance in Gastric Cancer Patients (위암환자에서 위절제술 시 근위부 절제연거리의 임상적 중요성)

  • Ha, Tae-Kyung;Kwon, Sung-Joon
    • Journal of Gastric Cancer
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    • v.6 no.4
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    • pp.277-283
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    • 2006
  • Purpose: The way in which the resection margin distance for gastric cancer patients who undergo a gastric resection influences the recurrence rate, aspects of recurrence, and the prognosis according to the characteristic of the tumor is not known. We aim to find a standard for tailor-made treatment after selecting patients in this point of view who need a more sufficient resection margin. Materials and Methods: A retrospective study was done on 1,472 patients who underwent a gastrectomy due to gastric cancer at our hospital from 1992 to 2005. The median follow-up period was 37 months. Results: There were no significant differences in the recurrence rate, the aspects of recurrence, and the 5-year survival rate between early gastric cancer (EGC) patients with a resection margin distance of less than 2 cm compared with EGC patients with a resection margin distance of greater than 2 cm. However, significant differences in the survival rate were found in advanced gastric cancer (AGC) patients when the patients were classified into groups with resection margin distances less than or greater than 3 cm (P=0.02). Significant differences were noted especially in cases of diffuse histologic-type tumors located in the lower third of the stomach and in cases with Borrmann type-3 and -4 tumors. Conclusion: The distance between the tumor resection margin and the proximal gastric resection margin has no significant influence on the survival rate in EGC patients if the resection margin is negative. However, to improve a patient's survival rate, it is important to guarantee a resection margin of more than 3 cm in AGC patients, especially when the tumor is a diffuse histologic type located in the lower third of the stomach or a Borrmann type 3 and 4.

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The Comparison of Usefulness between MDCT Angiography and DSA in the Diagnosis of Intracranial Aneurysm (뇌 동맥류 진단에 있어 디지털 감산 혈관조영술과 다중검출기 전산화단층촬영 혈관조영술의 유용성 비교)

  • Khang, Hyun-Soo;Seo, Sun-Youl;Han, Dong-Kyoon;Kwon, Soo-Il;Shim, Su-Jung;Cho, Sam-Ju
    • Progress in Medical Physics
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    • v.22 no.4
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    • pp.184-189
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    • 2011
  • The purpose of this study was to compare the image between DSA and MDCT Angiography and to examine whether MDCT Angiography could be useful as a screening test for the diagnosis of cerebral aneurysm in patients who were diagnosed with cerebral aneurysm on DSA. Of patients who were diagnosed with cerebral aneurysm DSA at University Hospital, 194 patients who concomitantly underwent MDCT Angiography were enrolled in the current retrospective study. The methods for analyzing cerebral aneurysm were to analyze the presence of cerebral aneurysm on DSA and MDCT Angiography. In cases in which it exceeded 1, the corresponding cases were classified as narrow-neck aneurysms. In otherwise cases, they were classified as wide-neck aneurysms. Thus, a comparative analysis could be performed to ascertain if cases were narrow-neck or wide-neck aneurysms. As compared with DSA, the sensitivity of MDCT Angiography for cerebral aneurysm was measured to be 97.4%. The degree of consistency between narrow-neck and wide-neck aneurysms was 90.2% and the proportion of undetectable an at MDCT Angiography was 2.54%. mean size was 2.4 mm. It is expected that a non-invasive diagnostic modality for a screening test for cerebral aneurysm, MDCT Angiography might be a very useful regimen as compared with an invasive one, DSA.

Myocardial Perfusion SPECT as a Screening Test before Planned Vascular Surgery for Predicting Perioperative Cardiac Complications (혈관 수술 후 심장 합병증 발생을 예측하기 위한 선별 검사로서 심근 관류 단일 광자 단층촬영의 유용성에 대한 연구)

  • Lee, Hyung-Chae;Hwang, Youn-Ho;Wi, Jin-Hong;Jun, Hee Jae;Lee, Yang-Haeng;Cho, Kwang-Hyun
    • Journal of Chest Surgery
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    • v.43 no.1
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    • pp.25-32
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    • 2010
  • Background: Patients with vascular diseases commonly have coronary artery disease and associated cardiac problems. Therefore, their underlying heart diseases may be induced or exacerbated after vascular surgery. The effectiveness of SPECT imaging, which is a relatively simple and non-invasive imaging modality, for assessing these underlying heart diseases is still controversial. This study was performed to evaluate the clinical effect of tests and treatment based on SPECT imaging prior to vascular surgery on the development of post-operation cardiac complications. Material and Method: Sixty three patients who were treated at Inje University Pusan Paik Hospital between April 2004 and September 2007 and who underwent adenosine infusion technetium-99m (Tc-99m) tetrofosmin SPECT imaging prior to vascular surgery were selected for this study and we retrospectively reviewed their records. Result: The sensitivity and specificity of detecting a perfusion defect on SPECT to predict the development of cardiac complications was relatively low at 41.2% and 52.2%, respectively. However when coronary angiographies were done on the patients with abnormal SPECT and this was followed by aggressive treatment such as coronary artery intervention and coronary artery bypass grafting based on the angiography results, there was a tendency for lower cardiac complication rates. Conclusion: SPECT imaging shows low effectiveness as a screening test for predicting cardiac complications after vascular surgery.

Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome (리증후군에서의 혈장 아미노산 및 소변 유기산 분석)

  • Na, Ji-Hoon;Lee, Hyunjoo;Lee, Hae-in;Huh, Euira;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.1
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    • pp.28-36
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    • 2022
  • Purpose: Detection of abnormal metabolites in plasma amino acid (PAA) and urine organic acid (UOA) analyses has been used to diagnose clinical mitochondrial diseases, such as Leigh syndrome. In this study, the diagnostic values and effectiveness of PAA and UOA analyses were reviewed. Methods: This was a retrospective study of patients with Leigh syndrome who were diagnosed between 2003 and 2018 in a single tertiary care center. Through a whole mitochondrial sequencing and nuclear DNA associated mitochondrial gene panel analysis, 19 patients were found to be positive for mitochondrial DNA (mtDNA) mutation-associated Leigh syndrome, and 57 patients were negative. Their PAA and UOA analyses results were then compared. Results: In the comparison of the PAA and UOA analyses results between the two groups, no abnormal metabolites showed obvious differences between the mtDNA mutation-positive Leigh syndrome and mtDNA mutation-negative Leigh syndrome groups. Conclusion: PAA and UOA analyses are inappropriate test methods for diagnosing Leigh syndrome or screening of mtDNA mutation-associated Leigh syndrome. However, UOA analysis might still be a suitable screening test for Leigh syndrome.

Expression of VEGF, p53, Apaf-1 and Caspase-9 in Head and Neck Squamous Cell Carcinoma (두경부 편평세포암에서 VEGF, p53, Apaf-1 and Caspase-9의 발현)

  • Lee, Sung Hak;Kang, Yeo Ju;Jo, Ui Ju;Lee, Youn Soo;Kang, Chang Suk
    • Korean Journal of Head & Neck Oncology
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    • v.28 no.2
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    • pp.107-113
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    • 2012
  • 배 경 편평상피암은 두경부의 악성종양 중 가장 흔하며, 임상적인 경과가 불량하다. 따라서 나쁜 예후를 가지는 환자군을 조기에 선별하여 더 적극적인 치료의 시행을 결정짓는 표지자의 필요성이 대두된다. 우리는 일련의 두경부 편평세포암 검체에서 몇몇 분자 표지자의 예후적 유용성을 평가하고자 하였다. 방 법 23예의 두경부 편평세포암 검체를 대상으로 VEGF, p53, Apaf-1, caspase-9의 발현과 몇몇 임상병리학적 지표들간의 연관성을 면역조직화학염색을 통해 조사하였다. 결 과 환자군은 남성이 더 많았으며 평균연령은 63.7세였다. 1기가 5예, 2기가 2예, 3기가 8예, 4기가 8예였다. 평균생존기간은 37.3개월이었다. VEGF단백 발현은 종양의 크기와 통계적으로 유의한 연관성을 보였다. 이와 더불어 VEGF단백 발현은 병기, 그리고 림프관 침습과 연관적인 경향성을 보였다. 그러나 VEGF단백 발현과 생존기간과는 관련성이 없었다. 또한, Apaf-1과 caspase-9의 단백발현은 다른 임상지표, 환자의 생존기간과는 관련이 없었다. 결 론 VEGF단백 발현은 두경부 편평세포암 환자에서 나쁜 임상경과를 예측할 수 있게 하는 표지자로서의 역할을 할 수 있다. 또한 본 연구는 두경부 편평세포암에서 별로 연구되지 않은 Apaf-1과 caspase-9의 발현상태를 밝힌 점에서 의의가 있다.

Development of Language Rehabilitation Program Using the Smart Device-based Application (스마트 기기 기반 언어재활 프로그램 개발)

  • Hwang, Yu Mi;Park, Kinam;Jung, Young Hee;Pyun, Sung-Bom
    • Journal of Digital Convergence
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    • v.17 no.10
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    • pp.321-327
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    • 2019
  • The purpose of this study is to develop a smart device-based Language Rehabilitation Program (LRP) to improve communication ability for the patients with language disability. The content of the LRP includes a variety of semantic categories and grammatical elements and consists of 17 semantic categories, 29 tasks and 3780 items to improve comprehension/production ability at word level, semantic category level, sentence level and discourse level. We developed LRP as a Windows-base management program and an Android-base language rehabilitation application. LRP was developed into an application for smart devices, providing real-time delivery of training contents, measurement and database of training task results, and patient progress and monitoring. A follow-up study will be conducted on the verification of the language rehabilitation effect using LRP by patients with language disability.

Nerve Blocks for Diagnosis and Prognosis of Chronic Pain (만성통증의 진단과 예후판정을 위한 신경차단)

  • Lee, Doo-Ik
    • The Korean Journal of Pain
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    • v.11 no.2
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    • pp.173-181
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    • 1998
  • 감별신경차단이 주의깊은 병력 청취, 이학적검사, 신경학적검사를 대체할 수는 없으며 적절한 검사실 또는 심리학적 연구를 줄이는데 의도되서는 안된다. 그러나 이들의 진단적 노력에서도 환자 통증의 원인을 규명할 수 없고 따라서 적절한 치료를 지침해줄 수 없을 때 감별신경차단이 상당한 도움이 될 수 있다. 감별신경차단이 통상적인 진단방법의 결과와 다른 기전을 말해 줄 수 있으나 그런 결과들이 사전의 치료방법이 환자 통증의 제거 실패한 점을 설명해줄 수 있으며, 나아가 특이한 증후군에 대한 적절한 치료방법을 결정해줄 수 있다. 발표된 논문들을 기본으로 고찰한 바, 진단과 예후판정을 위한 도루로써의 신경차단의 이론적 배경을 위축시키는 많은 제한성들이 있음을 알 수 있다. 추가해서 이들 수기들은 임상적 유용성을 증명하기에는 미흡하다. 그러므로 이상적인 진단적 신경차단을 위해서는, 수기관리와 호과의 입증 뿐만 아니라 결과의 분석과 적용에 있어서도 주의가 필요하다. 연구자들은 어떤 경우들에 있어 이들 수기가 계속되는 치료의 지침에 도움이 되는 정보를 제공한다고 보고 있으며, 그러므로 수행자들의 축적된 판단을 조급하게 일축할 필요는 없다. 끝으로 만성통증의 진단적 분류가 혼동되고 복잡하기 때문에 비록 유효성의 증명이 미흡하지만 해부학적 및 생리학적 감각을 얻기 위해서는 진단적 차단의 선별적인 사용의 필요서을 합리화해주고 있다.

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Clinical Value of a Desktop Spirometer (HI-801) for Spirometry Screening (선별 검사를 위한 탁상용 폐활량기 (HI-801)의 임상적 유용성에 관한 고찰)

  • Choi, Hye Sook;Choi, Cheon Woong;Park, Myung Jae;Kang, Hong Mo;Yoo, Hong Ji
    • Tuberculosis and Respiratory Diseases
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    • v.62 no.4
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    • pp.276-283
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    • 2007
  • Background: A national health care initiative recommends routine spirometry screening of all smokers over age 45 or patients with respiratory symptoms. In response to the recommendation, new, simple, and inexpensive desktop spirometers for the purpose of promoting widespread spirometric screening were marketed. The performance of these spirometers was evaluated in vivo testing with healthy subjects. However, the clinical setting allows spirometric assessment of various pathologic combinations of flow and volume. Objective: The aim of this study was to compare the accuracy of a desktop spirometer to a standard laboratory spirometer, in a clinical setting with pathologic pulmonary function. Method: In a health check-up center, where screening pulmonary funct test was performed using the HI-801 spirometer. Subjects who revealed the ventilation defect in screening spirometry, performed the spirometry again using the standard Vmax spectra 22d spirometer in a tertiary care hospital pulmonary function laboratory. Pulmonary function test with both spirometer was performed according to the guidelines of the American Thoracic Society. Results: 109 patients were enrolled. Pulmonary function measurements (FVC, $FEV_1$, PEFR, FEF25%-75%) from the HI-801 correlated closely (r=0.94, 0.93, 0.81, 0.84, respectively) with those performed with the Vmax spectra 22d and showed the good limits of agreement and differences between the 2 devices; FVC +0.35 L, $FEV_1$ +0.16 L, PEFR +1.85 L/s, FEF25%-75%-0.13 L/s. With the exception of $FEV_1$, FEF25%-75%, these differences were significant(p<0.05) but small. Conclusion: The HI-801 spirometer is comparable to the standard laboratory spirometer, Vmax spectra 22d, with high accurary for $FEV_1$ and FVC and acceptable differences for clinical use.

Correlation Between Cognitive Impairment Screening Test (CIST), Korean-Mini Mental State Examination, 2nd Edition (K-MMSE~2) and Clinical Dementia Rating (CDR) of Patients with Stroke (뇌졸중 환자를 대상으로 한 인지선별검사(CIST), 한국판 간이정신상태검사 2판(K-MMSE~2) 및 임상치매척도(CDR)의 상관성)

  • Hwang, Do-Yeon;Ryu, Sung-Hyun;Kwon, Ki-Hyun;Choi, Cho-Rong;Kim, Soo-A
    • Therapeutic Science for Rehabilitation
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    • v.11 no.2
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    • pp.53-62
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    • 2022
  • Objective : This study aimed to present basic data that could help in selecting or using evaluation tools in clinical settings. Methods : This study included 51 patients with stroke. The Cognitive Impairment Screening Test (CIST), Korean-Mini Mental State Examination, 2nd Edition (K-MMSE~2), and Clinical Dementia Rating (CDR) were used as evaluation tools. The correlation between evaluation tool scores was analyzed using Spearman's rank correlation coefficient, and the comparison of total scores between the CIST and K-MMSE~2 according to global CDR scores was analyzed using the Wilcoxon signed-rank test. Results : The correlation between the total CIST and K-MMSE~2 scores and global CDR scores was statistically significant (p<.01). The correlation between the sub-scores of the CIST and K-MMSE~2 showed a statistically significant correlation for all sub-scores (p<.01). The comparison of total scores between the CIST and K-MMSE~2 according to global CDR scores showed no statistically significant differences in all global CDR scores. Conclusion : This study showed that there was a correlation between CIST, K-MMSE~2, and CDR in patients with stroke. In the future, we hope that the results of this study will help to select or use cognitive function evaluation tools in clinical settings.