• Title/Summary/Keyword: 환자 선별

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3-methyl-crotonyl-CoA carboxylase deficiency 환자의 임상경과와 분자유전학적 특성

  • Jeong, Chang-U;Kim, Gu-Hwan;Lee, Beom-Hui;Lee, Jin;Choe, Jin-Ho;Yu, Han-Uk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.11 no.1
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    • pp.106-109
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    • 2011
  • MCG는 3-methylcrotonyl-CoA의 결핍으로 발생하는 선천성 leucine 대사 장애이다. 무증상에서 간질지속증 등의 다양한 임상양상을 보이며 주로 신생아대사이상선별검사에서 의심되어, 소변 유기산 검사를 통해 3- hydroxyisovaleric acid의 증가의 소견이 보인다. 치료는 leucine 제한 식이와 L-carnitine의 복용 등의 식이요법이 있다. 서울아산병원에서 MCG로 확진된 9가계 11명의 환자를 대상으로 임상상과 분자 유전학적 특성을 조사하였다. 9명은 신생아 대사이상검사로 발견되었으며, 나머지 2명은 가족검사를 통해서 진단되었다. 총 2-10세($2.6{\pm}1.96$년)까지의 관찰 기간 동안 모든 환자는 정상 발달을 보였으며, 신경학적 이상이나 대사불균형의 이상소견은 보이지 않았다. 총 18개의 대립유전자 중 17개에서 돌연변이를 발견하였으며, p.D280Y 돌연변이가 66.7%의 대립유전자에서 확인되어, 한국인 MCG에서 흔한 돌연변이임을 알 수 있었다. 또한 p.S342K, p.P459S, p.552S, p.Q496H, p.T556A 등 대부분의 돌연변이가 이전에 보고된 바가 없던 돌연변이로 한국인 MCG환자의 유전학적 특성이 다른 민족과 다름을 시사한다.

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Prevalence and Clinical Features of Probable REM Sleep Behavior Disorder-An Epidemiological Study in Osan City (유력 렘수면 행동장애 환자 유병률과 임상 양상-오산시 역학 연구)

  • Choe, Young-Min;Yoon, In-Young;Kim, Ki-Woong;Lee, Sang-Don;Ju, Ga-Won;Park, Joon-Hyuk
    • Sleep Medicine and Psychophysiology
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    • v.18 no.1
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    • pp.23-28
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    • 2011
  • Objectives: REM sleep behavior disorder (RBD) has received little attention in epidemiologic studies. This study aimed to determine the prevalence of probable REM sleep behavior disorder (pRBD) in the elderly population and its clinical features. Methods: A random sample of 1,588 was selected from a roster of 14,050 elderly population living in Osan city. The subjects were asked to fill out the REM sleep behavior disorder screening questionnaire (RBDSQ). Subjects whose score were 5 or higher on RBDSQ underwent a diagnostic phase of person-to-person assessment by experts in RBD. Results: Among 1,588 subjects, 886 elderly subjects participated in the screening phase and 123 subjects were assessed in the diagnostic phase. Eleven subjects were diagnosed as having pRBD, so prevalence was 1.5% (95% CI=0.70-2.30%). The frequency of depression and cognitive decline was significantly increased in patients with pRBD compared to subjects without pRBD, and there was no difference in sleep disturbances between two groups. Conclusions: Probable REM sleep behavior disorder is not rare in the elderly but frequently under-recognized. More attention should be paid to evaluation and treatment of RBD.

Efficacy of Assisted Hatching by Laser in Human IVF-ET Program (체외수정 및 배아이식술에서 레이저를 이용한 보조부화술의 효용성에 대한 연구)

  • Lee, Jung-Hyun;Han, Ji-Eun;Kim, You-Shin;Won, Hyung-Jae;Cho, Chung-Hyun;Kwak, In-Pyung;Eum, Jin-Hee;Park, Eun-A;Choi, Yoon-Jung;Lee, Dong-Ryul;Yoon, Tae-Ki
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.3
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    • pp.193-202
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    • 2008
  • Objective: To evaluate efficacy of assisted hatching by laser (AHL) and acidified Tyrode solution (AHA) in selected groups of IVF-ET patients who have a poor prognosis. Methods: From February 2006 to September 2006, total of 328 IVF-ET cycles with advanced female age (${\geq}38$ years), recurrent implantation failure (${\geq}3$ cycles), thick zona (${\geq}17{\mu}m$), and/or poor quality of embryo were randomly divided into assisted hatching by acidified Tyrode solution (AHA, n=180) and the assisted hatching using the ZILOS-tk laser (AHL, n=148) groups. Clinical outcomes were analyzed and compared between AHA and AHL group based on the patient characteristics. Results: In all AHL and AHA group, there were no significant differences in pregnancy (42.6%, 63/148 vs. 33.3%, 60/180) and implantation rates (17.4%, 82/470 vs. 16.0%, 89/556) However, in advanced female age group (Group 1), pregnancy (37.0%, 20/54 vs. 18.7%, 14/75) and implantation rates (14.4%, 23/160 vs. 7.1%, 15/210) in AHL group were significantly (p<0.05) higher than those of AHA, although there was no difference in patient parameters of both groups. And, the clinical outcome of groups with recurrent implantation failure (Group 2), thick zona pellucida (Group 3) and poor quality embryo (Group 4) were improved in AHL compared to those of AHA: 43.8% (21/48) and 31.6% (25/79) in Group 2, 43.8% (32/73) and 34.1% (28/82) in Group 3, 25.0% (7/28) and 14.6% (6/41) in Group 4, but no significance. Conclusion: The AHL improved the pregnancy and implantation rates in patients with advanced female age and recurrent implantation failure when compared to outcomes achieved from AHA. Therefore, this AHL technique may be a efficient and safe method for patients with poor prognosis.

Collection, Analysis and Classification of Pathological Voice from ARS using Neural Network (ARS와 신경회로망을 이용한 장애음성의 수집, 분석 및 식별에 관한 연구)

  • 김광인;조철우;김대현;왕수건;전계록;안시훈;김기련;김용주
    • Proceedings of the IEEK Conference
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    • 2000.09a
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    • pp.955-958
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    • 2000
  • 본 논문은 음성신호를 이용해 성대의 질환이 있는 환자를 진단하고 병명을 판별하게끔 유도하는 자동 진단 시스템을 개발하기 위한 연구의 일부로, 그중 ARS를 이용하여 환자의 음성을 수집, 분석, 식별의 실험에 대한 연구이다. 본 연구 팀에서는 이미 CSL을 이용한 장애음성 데이터의 수집과 식별에 관한 연구 결과를 발표한바 있다. 하지만 선행연구에서는 방음실에서 디지털 녹음기를 이용하여 수집한 음성을 사용했기 때문에, ARS를 통하여 녹음한 음성과는 샘플링 주파수나 대역폭, 잡음성분등의 데이터의 특성이 상당한 차이가 있다. 이러한 이유로 ARS를 통하여 녹음한 음성에 보다 적합한 파라미터 분석프로그램을 작성하여 파라미터를 구하였다. 이 파라미터들은 Kay사의 MDVP를 기초로하여 작성하였고, 대부분 80%정도의 신뢰성을 가졌다. 수집한 음성의 식별은 정상음성과 양성음성의 두가지 경우로 분리하였다. 식별기법으로는 신경망을 이용하였고, 식별파라미터는 구한 파라미터중 6개의 파라미터를 선별하여 식별한 결과 약 90%정도의 식별율을 가졌다.

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재조합 인간 GM-CSF의 정제 및 특성조사

  • 김규돈;윤세웅;이상미;권선훈;김범수;강환구;송지용
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 1994.04a
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    • pp.188-188
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    • 1994
  • GM-CSF는 생체내에서 백혈구의 형성을 조절하는 인자이기 때문에 골수이식을 한 환자 및 화학요법이나 방사선 치료를 받은 암환자에게서 발생하는 백혈구의 감소현상을 완화시키는 역활을 한다. 항암 보조 치료제로서 의학적 효능을 나타낼 것으로 간주되는 인체의 GM-CSF를 유전자 재조합 기술로 효모에서 발현, 정제하여 물리화학적 특성을 밝히고 역가를 측정하고자 하였다. 효모로부터 rhGM-CSF의 발현율을 상승시키기 위해 초 분비 돌연변이 균주를 선별하였고 발효 배지 조성의 차이에 따른 발현율도 비교 측정하였다. 정제된 rhGM-CSF(LBD-005)는 여러 물리화학적 특성조사를 통해 구조나 역가면에서 상대치와 거의 일치함을 보여주었다. LBD-005는 당화된 GM-CSF와 당화되지 않은 형태의 혼합물이므로 Con-A column등을 사용하여 분리하고자 하였다. 당화된 GM-CSF와 혼합물의 물리화학적 특성을 각각 조사하였으나 유사하였고 당화에 따른 역가의 차이도 없었음을 알 수 있었다.

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COVID-19 Chest X-ray reading Technique based on Deep Learning (흉부 X-ray 사진 분석을 통한 코로나 판독)

  • Kim, Sung-Jung;Yoo, JaeChern
    • Proceedings of the Korean Society of Computer Information Conference
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    • 2021.01a
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    • pp.31-32
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    • 2021
  • 신종 코로나바이러스 감염증(Coronavirus disease 2019; COVID-19)이 빠르게 확산됨에 따라 세계적인 전염병 대유행인 팬데믹(Pandemic)으로 선언되었다. 감염자들은 꾸준히 증가하고 있고 최근에는, 무증상 감염자들이 나타나고 있어 의심 환자를 조기에 판단하고 선별할 수 있는 기술이 필요하다. 본 논문에서는 흉부 방사선 검사(chest Radiography; CXR) 영상을 딥러닝(Deep Learning)하여 정상인, 폐렴 환자, 코로나바이러스 감염자를 분류할 수 있도록 한다.

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Implementation of a Computer Vision-Based Delirium Diagnosis Model (컴퓨터 비전을 통한 섬망 조기진단 모형 구현)

  • Kim, Sebin;Kim, Nahyun;Lee, Sohyun;Shin, Changhwa
    • Annual Conference of KIPS
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    • 2022.11a
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    • pp.980-982
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    • 2022
  • 본 연구는 와상환자에게 자주 발생하는 낙상, 욕창, 불면증을 영상기술을 통해 인식하여 섬망의 조기진단 모형을 구현한다. 실시간 모니터링을 통해 섬망 잠재환자를 선별하고 집중적인 관리와 치료로 이어질 수 있도록 간호인력을 보조하는 데 주된 목적을 두고 있다. 과활동형 섬망은 파생위험 중 하나인 낙상과, 저활동형 섬망은 원인 요소인 욕창과 묶어 자세인식을 통해 판정한다. 또한 주로 밤에 악화되는 섬망의 특성을 고려해 눈 깜빡임을 통한 불면증 검사를 추가로 반영하였다. 낙상과 욕창을 섬망과 묶어 융복합적인 위험예측 시스템을 구축함과 동시에, 기존의 섬망 사정도구들이 지니는 시공간적 제약을 개선함으로써 간호인력의 부담을 덜어줄 것으로 기대된다.

The Usefulness of the Berlin Questionnaire as a Screening for Obstructive Sleep Apnea in a Sleep Clinic Population (수면 클리닉을 내원한 환자에서 폐쇄성수면무호흡의 선별을 위한 베를린 설문의 유용성)

  • Kang, Hyeon-Hui;Kang, Ji-Young;Lee, Sang-Haak;Moon, Hwa-Sik
    • Sleep Medicine and Psychophysiology
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    • v.18 no.2
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    • pp.82-86
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    • 2011
  • Objectives: The Berlin Questionnaire (BQ) has been used to help identify patients at high risk of having sleep apnea in primary care. But it has not been validated in a sleep clinic for Korean patients. The aim of this study is to evaluate the usefulness of the BQ as a screening tool for obstructive sleep apnea (OSA) for Korean patients in a sleep clinic. Methods: The BQ was prospectively applied to 121 subjects with OSA suspicion who visited to our sleep clinic. All subjects performed overnight polysomnography. OSA was defined as an apnea-hypopnea index (AHI) ${\geq}5$. We investigated the sensitivity, specificity, positive and negative predictive values of the BQ according to severity by AHI. Results: In 121 subjects, 73.6% were males, with a mean age of $48.8{\pm}13.0$ years. Twenty-five (20.6%) patients did not have OSA (AHI<5), 30 (25%) patients had mild OSA ($AHI{\geq}5$ and <15), 26 (21.4%) had moderate ($AHI{\geq}15$ and <30), and 40 (33%) had severe OSA ($AHI{\geq}30$). The BQ identified 69.4% of the patients as being at high risk for having OSA. The sensitivity and specificity of the BQ were 71.9% and 40%, for $AHI{\geq}5$, 75.8% and 38.2% for $AHI{\geq}15$, 77.5% and 34.6% for $AHI{\geq}30$, respectively. The positive and negative predictive values of the BQ were 82.1% and 27.0% for $AHI{\geq}5$, respectively. Positive and negative likelihood ratios were 1.2 and 0.7, and the overall diagnostic accuracy of the BQ was 65.3%, using an AHI cut-off of 5. Conclusion: Due to modest sensitivity and low specificity, the BQ does not seem to be an appropriate tool for identifying patients with obstructive sleep apnea in a sleep clinic population.

The Accuracy of Echocardiography and ECG in the Left Ventricular Hypertrophy (좌심실비대 진단에서 심장초음파와 심전도검사의 정확성)

  • Yang, SungHee;Lee, Jin-Soo;Kim, Changsoo
    • The Journal of the Korea Contents Association
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    • v.16 no.2
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    • pp.666-672
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    • 2016
  • We extracted 50 LVH patients out of 30'~80's who performing ECG and echocardiography examination. We used Devereux's theory to examinate LVH with echocardiography and used Sokolow-Lyon's theory to examinate LVH with ECG. We used regression and correlation analysis by SPSS, used ROC curve analysis to decide predominance of two ways of .Age, BMI, SBP and DBP whice are the danger factors of LVH and standard value of LVH diagnosis examination seems correlated. Out of 50 LVH patients, 50 patients were diagnosed LVH by echcardiography examination and only 21 patients were diagnosed LVH by ECG examination. Also echocardiography was AUC 99%, sensitivity 96%, singularity 95%, accuracy 95.5%. And ECG was AUC 76%, sensitivity 62%, singularity 76%, accuracy 68%.By comparing accuracy between echocardiography and ECG in diagnosing LVH, we could tell echocardiography was examination with higher accuracy. Therefore, if one was diagnosed with summit on 1st examination with ECG, considering age, body mass index, systolic blood pressure and dilator blood pressure, should offer echocardiography examination.

Hereditary Hemorrhagic Telangiectasia (유전성출혈모세혈관확장증의 증례 및 문헌 고찰)

  • Kwon, Jeong-Seung;Ahn, Hyung-Joon;Choi, Jong-Hoon
    • Journal of Oral Medicine and Pain
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    • v.37 no.3
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    • pp.135-139
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    • 2012
  • Hereditary hemorrhagic telangiectasia is a rare autosomal dorminant disease that features abnormal and fragile vascular dilations of terminal vessels in skin and mucous membranes, as well as arteriovenous malformations of internal organs, particularly lungs, brain, and liver. Often patients have not been diagnosed with HHT for a long time, and undiagnosed HHT patients unnecessarily develop serious complications such as severe life-threatening hemorrhage, stroke or brain abscess. Therefore, early detection and appropriate screening is very important. Early detection of HHT allows the appropriate screening for the presence of silent disease such as AVMs in the lungs, liver, or brain, and preventive treatment in the patient and their affected family members. Dentists should be familiar with HHT because the telangiectases on skin and oral mucosa are often the most dramatic and most easily identified component of HHT. Recently, we experienced a case of HHT. We present the case with a review of the literature.