• Title/Summary/Keyword: Syndrome Identification

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Discriminant Modeling for Pattern Identification Using the Korean Standard PI for Stroke-III (한국형 중풍변증 표준 III을 이용한 변증진단 판별모형)

  • Kang, Byoung-Kab;Ko, Mi-Mi;Lee, Ju-Ah;Park, Tae-Yong;Park, Yong-Gyu
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.25 no.6
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    • pp.1113-1118
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    • 2011
  • In this paper, when a physician make a diagnosis of the pattern identification (PI) in Korean stroke patients, the development methods of the PI classification function is considered by diagnostic questionnaire of the PI for stroke patients. Clinical data collected from 1,502 stroke patients who was identically diagnosed for the PI subtypes diagnosed by two physicians with more than 3 years experiences in 13 oriental medical hospitals. In order to develop the classification function into PI using Korean Stroke Syndrome Differentiation Standard was consist of the 44 items (Fire heat(19), Qi deficiency(11), Yin deficiency(7), Dampness-phlegm(7)). Using the 44 items, we took diagnostic and prediction accuracy rate through of discriminant model. The overall diagnostic and prediction accuracy rate of the PI subtypes for discriminant model was 74.37%, 70.88% respectively.

Cold-Heat and Excess-Deficiency Pattern Identification Based on Questionnaire, Pulse, and Tongue in Cancer Patients: A Feasibility Study (암 환자 대상 설문지, 맥진기, 설진기 결과를 활용한 한열허실변증에 대한 예비 연구)

  • Choi, Yujin;Kim, Soo-Dam;Kwon, Ojin;Park, Hyo-Ju;Kim, JiHye;Choi, Woosu;Ko, Myung-Hyun;Ha, Su-Jeung;Song, Si-Yeon;Park, So-Jung;Yoo, Hwa-Seung;Jeong, Mi-Kyung
    • The Journal of Korean Medicine
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    • v.42 no.1
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    • pp.1-11
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    • 2021
  • Objectives: This pilot study aimed to evaluate the agreement between traditional face-to-face Korean medicine (KM) pattern identification and non-face-to-face KM pattern identification using the data from related questionnaires, tongue image, and pulse features in patients with cancer. Methods: From January to June 2020, 16 participants with a cancer diagnosis were recruited at the one Korean medicine hospital. Three experienced Korean medicine doctors independently diagnosed the participants whether they belong to the cold pattern or not, heat pattern or not, deficiency pattern or not, and excess pattern or not. Another researcher collected KM pattern related data using questionnaires including Cold-Heat Pattern Identification (CHPI), tongue image analysis system, and pulse analyzer. Collected KM pattern related data without participants' identifier was provided for the three Korean medicine doctors in random order, and non-face-to-face KM pattern identification was carried out. The kappa value between face-to-face and non-face-to-face pattern identification was calculated. Results: From the face-to-face pattern identification, there were 13/3 cold/non-cold pattern, 4/12 heat/non-heat pattern, 14/2 deficiency/non-deficiency pattern, and 0/16 excess/non-excess pattern participants. In cold/non-cold pattern, kappa value was 0.455 (sensitivity: 0.85, specificity: 0.67, accuracy: 0.81). In heat/non-heat pattern, the kappa value was 0.429 (sensitivity: 0.75, specificity: 0.72, accuracy: 0.75). The kappa value of deficiency/non-deficiency and excess/non-excess pattern was not calculated because of the few participants of non-deficiency, and excess pattern. Conclusions: The agreement between traditional face-to-face pattern identification and non-face-to-face pattern identification seems to be moderate. The non-face-to-face pattern identification using questionnaires, tongue, and pulse features may feasible for the large clinical study.

Molecular characterization and prenatal molecular evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome

  • Yoo, Han-Wook;Kim, Gu-Hwan
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.17-22
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    • 1998
  • The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management of the patients with the Lesch-Nyhan syndrome is frustrating and requires burdensome medical treatment since it cripples the patient and shortens the life span by progression of neurological symptoms, but there are no cures or measures for relieving relentless natural course of the disease yet. Therefore, prenatal diagnosis of the affected fetus is important in genetic counselling for the family at high risk. In this study, four different mutations in the HPRT gene of four probands have been identified in four unrelated families; K215X, Q109X, nt.631 ${\Delta}A$, and nt.289 ${\Delta}GT$. Two mutations among them altered restriction enzyme sites; SpeI for Q109X and MaeI for nt.289 ${\Delta}GT$. Based on their molecular defects, prenatal diagnoses of 3 the fetuses were successfully made between ninth and eleventh week of gestation by polymerase chain reaction (PCR), restriction digestion and DNA sequencing using cDNA obtained from chorionic villus samples (CVS). We predicted the outcome of all fetuses prenatally. Among the three fetuses two were male and one was female according to the identification made by PCR amplification of the sex determining region of the Y chromosome(SRY) gene. Each carried a wild type allele for the corresponding mutant allele. They were also tested postnatally for the mutations to be unaffected.

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Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

  • Hong, Hyun Dae;Kim, Eunja;Nam, Soo Hyun;Yoo, Da Hye;Suh, Bum Chun;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.109-117
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    • 2015
  • Purpose: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. Materials and Methods: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS). Results: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene (MT-TK) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. Conclusion: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.

Study on Pattern of Metabolic Syndrome about Stroke Patients in Oriental Hospital (대전지역 한방병원 중풍환자의 대사증후군 분포에 대한 연구)

  • Moon, Seung-Hee;Kang, Byung-Gab;Kang, Ji-Sun;Kim, Min-Ji;An, Joung-Jo;Jo, Hyun-Kyung;Yoo, Ho-Rhyong;Seol, In-Chan;Kim, Yoon-Sik
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.23 no.4
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    • pp.903-907
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    • 2009
  • The purpose of this study is to investigate the pattern of metabolic syndrome(Mets) in stroke patients who were hospitalized in Daejeon oriental hospital. The present study was done over 445 hospitalized patient with stroke in the Daejeon University Oriental Medical Hospital in the period of November 2006 to December 2008. Stroke patients had been interviewed by residents and specialists who studied standard operation procedures in Fundamental study for Standardization and Objectification of Differentiation and Pattern Identification of Syndrome of Oriental Medicine for Stroke. We analyzed all registered data and evaluated the prevalence of Mets and specific components of Mets. The distribution of Mets in stroke patients according to American Heart Association/National Heart Lung and Blood Institute(AHA/NHLBI) criteria is 65.63%. The distribution of Mets in stroke patients according to International Diabetes Federation(IDF) criteria is 48.05%. The distribution of female patients is higher than that of male patients. The distribution of central obesity, low HDL cholesterol and hypertension is higher in female patients. There is no significant relationship between Mets and stroke type in AHA/NHLBI criteria.. But, there is significant relationship between Mets and stroke type in IDF criteria.

Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis (신석회증을 동반한 희귀한 법랑질 형성 부전증 : 증례 보고)

  • Choi, Sooji;Sohn, Young Bae;Ji, Suk;Song, Seungil;Shin, Jeongwon;Kim, Seunghye
    • Journal of the korean academy of Pediatric Dentistry
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    • v.47 no.3
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    • pp.344-351
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    • 2020
  • Amelogenesis imperfecta (AI) occurs either in isolation or in association with other dental abnormalities and systemic disorder. A rare syndrome associating AI with nephrocalcinosis was named as Enamel Renal Syndrome (ERS; OMIM #204690). This syndrome is characterized by severe enamel hypoplasia, failed tooth eruption, intra pulpal calcifications, enlarged gingiva, and nephrocalcinosis. Nephrocalcinosis is a condition where calcium salts are deposited in renal tissue, and this may lead to critical kidney complications. This rare syndrome shows pathognomonic oral characteristics that are easily detectable at an early age, which proceeds the onset of renal involvement. Pediatric dentists are the first oral health practitioners whom ERS patients will meet at early age. The role of pediatric dentists is critically important for early diagnosis and referral of patients to both nephrologists for renal assessment and geneticists for identification of causative mutation and diagnosis. Early detection of renal involvement may provide chances to prevent further undesired renal complications.

Review on the Development State and Utilization of Pattern Identification Questionnaire in Korean Medicine by U Code of Korean Classification of Disease (한국표준질병·사인분류에 따른 한의 변증 설문지 개발 및 활용현황 고찰)

  • Jang, Eunsu;Kim, Yunyoung;Lee, Eun Jung;Yoo, Ho Ryong;Jung, In chul
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.30 no.2
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    • pp.124-130
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    • 2016
  • The aim of this study was to suggest the future direction of diagnostic and evaluative pattern identification questionnaire (PIQ) by reviewing the state of development and utilization of PIQ according to Korean classification of disease-U (KCD-U). We surveyed the database of OASIS, NDSL, KISS, DBPIA, and Pub-med to know the kinds of developed and developing PIQ of Korean medicine. We used 'Pattern Identification' and 'Questionnaire' to find suitable papers. The inclusion criteria met 47 cases. The number of PIQ before 2000yrs, between 2001 to 2005, 2006-2010, 2011-2015 were 2, 5, 18, 22cases. The number of PIQ belonged to the disease of Korean medicine, the pathological symptom of korean medicine, the Sasang constitutional pattern identification and etc according to KCD-U were 20(42.6%), 8(17%), 9(19.1%) and 10(21.3%). Twenties among forty seven PIQ were validated, and the rest of them were not validated. The distribution of the numbers of PIQ were significantly different according to KCD-U (p=0.003). The direction of Utilization of PIQ was 36 questionnaires in diagnosing PI, 14 cases in evaluating health state, 4cases in evaluating effects of a treatment and 8 ones in diagnosing Sasang constitutional types. This study reveals the status on validated and non-validated PIQ of Korean medicine and suggests the basic information for the direction of developing PIQ in the future.

Study of the Indicators of Each Pattern Identification Based on Korean Standard Differentiation of the Symptoms and Signs for Stroke (한국형 중풍 변증 표준안-Ⅱ의 변증별 변증지표의 분포 및 타당도에 관한 연구)

  • Moon, Seung-Hee;Kang, Byung-Gab;An, Joung-Jo;Jo, Hyun-Kyung;Yoo, Ho-Rhyong;Seol, In-Chan;Kim, Yoon-Sik
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.22 no.2
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    • pp.487-496
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    • 2008
  • The purpose of this study is to investigate clinical frequency and priority of five pattern identification settled by Korean Standard Differentiation of the Symptoms and Sign for Stroke. The present study was done over 177 hospitalized patient with stroke in the Daejeon University Oriental Medical Hospital in the period of November 2006 to July 2007. Stroke patients had been interviewed by residents and specialists who studied standard operation procedures in Fundamental study for Standardization and Objectification of Differentiation and Pattern Identification of Syndrome of Oriental Medicine for Stroke. In Heat-transformation pattern group, men showed significantly high frequency and in Deficiency of Gi pattern group, women showed significantly high frequency. In Heat-transformation pattern group, the indicators such as 'aversion to heat during fever', 'flushed face', 'full and rapid pulse', 'dryness of the eyes, 'yellow coating of the tongue', 'feverishness of the limbs', 'dryness of the eyes' showed significantly high frequency. In Dampphlegm syndrome group, the indicators such as 'white coating of the tongue', 'yellowish face', 'thick coating of the tongue', 'wheezing in the throat with sputum', 'swollen tongue', 'slippery pulse' showed significantly high frequency. In Deficiency of Gi pattern group, the indicators such as 'pale tongue', 'lassitude', 'pale face', 'weakness pulse' showed significantly high frequency. In Deficiency of Eum group, the indicators such as 'short and rapid pulse', 'mirror-like tongue' showed significantly high frequency. For more sensitive Korean Standard Differentiation of the Symptoms and Signs for Stroke, Large scale study is to be done, giving weight on the important indicators.