• Title/Summary/Keyword: medical informatics

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Five Most Common Prognostically Important Fusion Oncogenes are Detected in the Majority of Pakistani Pediatric Acute Lymphoblastic Leukemia Patients and are Strongly Associated with Disease Biology and Treatment Outcome

  • Awan, Tashfeen;Iqbal, Zafar;Aleem, Aamer;Sabir, Noreen;Absar, Muhammad;Rasool, Mahmood;Tahir, Ammara H.;Basit, Sulman;Khalid, Ahmad Mukhtar;Sabar, Muhammad Farooq;Asad, Sultan;Ali, Agha Shabbir;Mahmood, Amer;Akram, Muhammad;Saeed, Tariq;Saleem, Arsalan;Mohsin, Danish;Shah, Ijaz Hussain;Khalid, Muhammad;Asif, Muhammad;Haq, Riazul;Iqbal, Mudassar;Akhtar, Tanveer
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5469-5475
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    • 2012
  • Background and Objectives: Acute lymphoblastic leukemia (ALL) is a complex genetic disease involving many fusion oncogenes (FO) having prognostic significance. The frequency of various FO can vary in different ethnic groups, with important implications for prognosis, drug selection and treatment outcome. Method: We studied fusion oncogenes in 101 pediatric ALL patients using interphase FISH and RT-PCR, and their associations with clinical features and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL t (22; 9), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (del 1p32) were found in 89/101 (88.1%) patients. Frequency of BCR-ABL was 44.5% (45/101). BCR-ABL positive patients had a significantly lower survival ($43.7{\pm}4.24$ weeks) and higher white cell count as compared to others, except patients with MLL-AF4. The highest relapse-free survival was documented with ETV6-RUNX1 (14.2 months) followed closely by those cases in which no gene was detected (13.100). RFS with BCR-ABL, MLL-AF4, TCF3-PBX1 and SIL-TAL1 was less than 10 months (8.0, 3.6, 5.5 and 8.1 months, respectively). Conclusions: This is the first study from Pakistan correlating molecular markers with disease biology and treatment outcome in pediatric ALL. It revealed the highest reported frequency of BCR-ABL FO in pediatric ALL, associated with poor overall survival. Our data indicate an immediate need for incorporation of tyrosine kinase inhibitors in the treatment of BCR-ABL+ pediatric ALL in this population and the development of facilities for stem cell transplantation.

Genome-wide Association Study Identification of a New Genetic Locus with Susceptibility to Osteoporotic Fracture in the Korean Population

  • Hwang, Joo-Yeon;Lee, Seung-Hun;Go, Min-Jin;Kim, Beom-Jun;Kim, Young-Jin;Kim, Dong-Joon;Oh, Ji-Hee;Koo, Hee-Jo;Cha, My-Jung;Lee, Min-Hye;Yun, Ji-Young;Yoo, Hye-Sook;Kang, Young-Ah;Oh, Ki-Won;Kang, Moo-Il;Son, Ho-Young;Kim, Shin-Yoon;Kim, Ghi-Su;Han, Bok-Ghee;Cho, Yoon-Shin;Koh, Jung-Min;Lee, Jong-Young
    • Genomics & Informatics
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    • v.9 no.2
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    • pp.52-58
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    • 2011
  • Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genome-wide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=$1.27{\times}10^{-6}$) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.

Pollen-Food Allergy Syndrome in Korean Pollinosis Patients: A Nationwide Survey

  • Kim, Mi-Ae;Kim, Dong-Kyu;Yang, Hyeon-Jong;Yoo, Young;Ahn, Youngmin;Park, Hae-Sim;Lee, Hyun Jong;Jeong, Yi Yeong;Kim, Bong-Seong;Bae, Woo Yong;Jang, An-Soo;Park, Yang;Koh, Young-Il;Lee, Jaechun;Lim, Dae Hyun;Kim, Jeong Hee;Lee, Sang Min;Kim, Yong Min;Jun, Young Joon;Kim, Hyo Yeol;Kim, Yunsun;Choi, Jeong-Hee;Work Group for Rhinitis, the Korean Academy of Asthma, Allergy and Clinical Immunology
    • Allergy, Asthma & Immunology Research
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    • v.10 no.6
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    • pp.648-661
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    • 2018
  • Purpose: Pollen-food allergy syndrome (PFAS) is an immunoglobulin E (IgE)-mediated allergy in pollinosis patients caused by raw fruits and vegetables and is the most common food allergy in adults. However, there has been no nationwide study on PFAS in Korea. In this study, we investigated the prevalence and clinical characteristics of PFAS in Korea. Methods: Twenty-two investigators participated in this study, in which patients with allergic rhinoconjunctivitis and/or bronchial asthma with pollen allergy were enrolled. The questionnaires included demographic characteristics, a list of fruits and vegetables, and clinical manifestations of food allergy. Pollen allergy was diagnosed by skin prick test and/or measurement of the serum level of specific IgE. Results: A total of 648 pollinosis patients were enrolled. The prevalence of PFAS was 41.7% (n = 270). PFAS patients exhibited cutaneous (43.0%), respiratory (20.0%), cardiovascular (3.7%) or neurologic symptoms (4.8%) in addition to oropharyngeal symptoms. Anaphylaxis was noted in 8.9% of the PFAS patients. Seventy types of foods were linked to PFAS; e.g., peach (48.5%), apple (46.7%), kiwi (30.4%), peanut (17.4%), plum (16.3%), chestnut (14.8%), pineapple (13.7%), walnut (14.1%), Korean melon (12.6%), tomato (11.9%), melon (11.5%) and apricot (10.7%). Korean foods such as taro/taro stem (8.9%), ginseong (8.2%), perilla leaf (4.4%), bellflower root (4.4%), crown daisy (3.0%), deodeok (3.3%), kudzu root (3.0%) and lotus root (2.6%) were also linked to PFAS. Conclusions: This was the first nationwide study of PFAS in Korea. The prevalence of PFAS was 41.7%, and 8.9% of the PFAS patients had anaphylaxis. These results will provide clinically useful information to physicians.

Impact of Registration Program after Hypertensive or Diabetic Patient Detection through Community Partnership on Compliance and Blood Pressure or Blood Sugar Control (고혈압·당뇨병 신규 환자 발견 이후 지역사회 협력을 통한 등록관리가 치료순응도 및 혈압 및 혈당 조절에 미치는 영향)

  • Hong, Du-Ho;Seo, Hwa-Jeong;Kang, Kyoung-Hee;Kim, Eun-Ju;Im, Jeong-Soo;Oh, Dae-Kyu;Yim, Jun
    • Journal of agricultural medicine and community health
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    • v.33 no.3
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    • pp.316-323
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    • 2008
  • = ABSTRACT = Objectives : Incheon metropolitan city has set a model program of community partnership for hypertensive or diabetic patients detection and follow-up since 2005. This study examines the effects of the model on the compliance and the control of blood pressure or blood sugar level Methods : Telephone-surveys were done for 140 persons selected from 408 patients who were detected newly as hypertensive or diabetic patients at Gangwha-Gun and Seo-Gu in Incheon between January 1st and August 31th in 2006, and finally completed in 110 patients(78.6%). Survey questionnaires included socio-demographic(age, gender, and educational level), health behavioral (smoking, drinking, physical activity, and diet), and therapy-related (registration state, compliance, blood pressure or blood sugar control) variables. Odds ratio and 95% CI were derived from logistic regression model. Results : Registered group exhibited high compliance and well managed blood pressure or blood sugar level. The odds ratio of registration were 5.55(95% CI:1.83~16.89) for compliance and 3.78(95% CI:1.43~9.99) for blood pressure or blood sugar control after adjusting for age, gender, disease, and area Conclusions : It is independently related to compliance and blood pressure or blood sugar control whether the patient is registered or not. To control hypertension or diabetes mellitus in terms of compliance and control state, a community-based registration program through community partnership could be a powerful tool.

Standardization of Reference Values among Laboratories of Korean Association of Health Promotion-3rd Attempt (한국건강관리협회 임상병리검사결과 참고범위 설정 및 표준화 (3회차))

  • Lee, Gap-No;Yun, Jong-Hyeon;Jo, Han-Ik;Jeong, Hu-Geun;Park, Hyeon-Mo;Yun, Cheong-Ha;Kim, Sang-In
    • Journal of Korea Association of Health Promotion
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    • v.2 no.1
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    • pp.1-8
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    • 2004
  • Background : Since 2001 the Korean Association of Health Promotion has attempted to establish her own reference valves that can be used in her all fifteen branch laboratories instead of using those adapted from the published data or there commended data by the reagent companies supplied as inserts. However, the previous two reference values derived from the statistics(year 2001 and 2002) were need to adjust to apply to actual practice. Besides there was an unavoidable situation that the reagent has to be changed to other companies in 2002 that creates another statistical problem. Subsequently, the third attempt to derive the reference ranges of tests in KAHP to solve those problems and define common)v acceptable reference ranges was done and and reported here. Methods : Al1 the results performed during January 2, 2003 through September 30, 2003 were collected in Excel tile format. All the data include dthe necessary information such as age and sex. The age was grouped in six; baby(0-3y), children(4-l2y), adolescent(13-l8y), adult(19-S4y), younger elderly (65-79y),old elderly(oyer 80y), with references of statistics in medical informatics and WHO classification. The data were statistically analyzed with SAS 6.04 for-Gaussian distribution as the previous two occasions. None of the tests showed Gaussian distribution. These procedures had been repeated twice or three times after trimming out the results lying outside three standard deviations. Though, all the tests showed non-Gaussian distribution. Subsequently, the reference ranges were defined in the range from the point of lower 2.5% to the point of higher 97.5 %. And in case the lower range could be "0", the reference ranges were defined in the range of 0 to 95%.Results : The reference ranges of most of 56 test items were newly assigned. Also with adaptation of the recommendation of WHO etc. on fasting blood sugar, hemoglobin, cholesterol. Among these there were eight tests that needed reference ranges by the age groups and nine tests by the sex. Conclusions : The third attempt will credit more the reference range of all15 laboratories of Korean Association of Health Promotion, which will be essential part of the better service to the patient and clients to visit KAHP.

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Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block

  • Park, Hyoung-Seob;Kim, Yoon-Nyun;Lee, Young-Soo;Jung, Byung-Chun;Lee, Sang-Hee;Shin, Dong-Gu;Cho, Yong-Keun;Bae, Myung-Hwan;Han, Sang-Mi;Lee, Myung-Hoon
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.110-116
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    • 2012
  • Recent several studies have shown that the genetic variation of SCN5A is related with atrioventricular conduction block (AVB); no study has yet been published in Koreans. Therefore, to determine the AVB-associated genetic variation in Korean patients, we investigated the genetic variation of SCN5A in Korean patients with AVB and compared with normal control subjects. We enrolled 113 patients with AVB and 80 normal controls with no cardiac symptoms. DNA was isolated from the peripheral blood, and all exons (exon 2-exon 28) except the untranslated region and exon-intron boundaries of the SCN5A gene were amplified by multiplex PCR and directly sequenced using an ABI PRISM 3100 Genetic Analyzer. When a variation was discovered in genomic DNA from AVB patients, we confirmed whether the same variation existed in the control genomic DNA. In the present study, a total of 7 genetic variations were detected in 113 AVB patients. Of the 7 variations, 5 (G87A-A29A, intervening sequence 9-3C>A, A1673G-H558R, G3578A-R1193Q, and T5457C-D1819D) have been reported in previous studies, and 2 (C48G-F16L and G3048A-T1016T) were novel variations that have not been reported. The 2 newly discovered variations were not found in the 80 normal controls. In addition, G298S, G514C, P1008S, G1406R, and D1595N, identified in other ethnic populations, were not detected in this study. We found 2 novel genetic variations in the SCN5A gene in Korean patients with AVB. However, further functional study might be needed.

Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study

  • Pyun, Jung-A;Kim, Sun-Shin;Park, Kyung-Chae;Baik, In-Kyung;Cho, Nam-H.;Koh, In-Song;Lee, Jong-Young;Cho, Yoon-Shin;Kim, Young-Jin;Go, Min-Jin;Shim, Eu-Gene;Kwack, Kyu-Bum;Shin, Chol
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.88-98
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    • 2012
  • Lipoprotein lipase (LPL) plays an essential role in the regulation of high-density lipoprotein cholesterol (HDLC) and triglyceride levels, which have been closely associated with cardiovascular diseases. Genetic studies in European have shown that LPL single-nucleotide polymorphisms (SNPs) are strongly associated with lipid levels. However, studies about the influence of interactions between LPL SNPs and lifestyle factors have not been sufficiently performed. Here, we examine if LPL polymorphisms, as well as their interaction with lifestyle factors, influence lipid concentrations in a Korean population. A two-stage association study was performed using genotype data for SNPs on the LPL gene, including the 3' flanking region from 7,536 (stage 1) and 3,703 (stage 2) individuals. The association study showed that 15 SNPs and 4 haplotypes were strongly associated with HDLC (lowest $p=2.86{\times}10^{-22}$) and triglyceride levels (lowest $p=3.0{\times}10^{-15}$). Interactions between LPL polymorphisms and lifestyle factors (lowest $p=9.6{\times}10^{-4}$) were also observed on lipid concentrations. These findings suggest that there are interaction effects of LPL polymorphisms with lifestyle variables, including energy intake, fat intake, smoking, and alcohol consumption, as well as effects of LPL polymorphisms themselves, on lipid concentrations in a Korean population.

Analyzing association between low-density lipoprotein reduction by statin and adherence to medication using national health insurance service-national sample cohort (NHIS-NSC) (표본코호트기반 고지혈증 약제의 저밀도 콜레스테롤 감소량 및 투약순응도 분석)

  • Kim, Kyu-Jin;Jun, Chi-Hyuck;Lee, Hyeseon;Kim, Hun-Sung
    • Journal of the Korean Data and Information Science Society
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    • v.28 no.5
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    • pp.1027-1041
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    • 2017
  • Hyperlipidemia, the status of blood with high level of low-density lipoprotein cholesterol (LDL-C), is known as a main cause of coronary artery diseases such as myocardiac infarction or brain infarct. Statin is the representative prescription to hyperlipidemia and the effects of it depend on the patient's individual conditions such as health-caring habits or adherence to medication. The main effect of statin is reducing LDL-C, which should reach the target range based on National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) guideline. In this research, the reduction of LDL-C and attainment to patient's target range are considered effects of statin. The association between factors - individual conditions and adherence to medication of patients - and the effects of statin is analyzed with National Health Insurance Service-National Sample Cohort (NHIS-NSC).

Short-term Effects of Ambient Air Pollution on Emergency Department Visits for Asthma: An Assessment of Effect Modification by Prior Allergic Disease History

  • Noh, Juhwan;Sohn, Jungwoo;Cho, Jaelim;Cho, Seong-Kyung;Choi, Yoon Jung;Kim, Changsoo;Shin, Dong Chun
    • Journal of Preventive Medicine and Public Health
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    • v.49 no.5
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    • pp.329-341
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    • 2016
  • Objectives: The goal of this study was to investigate the short-term effect of ambient air pollution on emergency department (ED) visits in Seoul for asthma according to patients' prior history of allergic diseases. Methods: Data on ED visits from 2005 to 2009 were obtained from the Health Insurance Review and Assessment Service. To evaluate the risk of ED visits for asthma related to ambient air pollutants (carbon monoxide [CO], nitrogen dioxide [$NO_2$], ozone [$O_3$], sulfur dioxide [$SO_2$], and particulate matter with an aerodynamic diameter <$10{\mu}m$ [$PM_{10}$]), a generalized additive model with a Poisson distribution was used; a single-lag model and a cumulative-effect model (average concentration over the previous 1-7 days) were also explored. The percent increase and 95% confidence interval (CI) were calculated for each interquartile range (IQR) increment in the concentration of each air pollutant. Subgroup analyses were done by age, gender, the presence of allergic disease, and season. Results: A total of 33 751 asthma attack cases were observed during the study period. The strongest association was a 9.6% increase (95% CI, 6.9% to 12.3%) in the risk of ED visits for asthma per IQR increase in $O_3$ concentration. IQR changes in $NO_2$ and $PM_{10}$ concentrations were also significantly associated with ED visits in the cumulative lag 7 model. Among patients with a prior history of allergic rhinitis or atopic dermatitis, the risk of ED visits for asthma per IQR increase in $PM_{10}$ concentration was higher (3.9%; 95% CI, 1.2% to 6.7%) than in patients with no such history. Conclusions: Ambient air pollutants were positively associated with ED visits for asthma, especially among subjects with a prior history of allergic rhinitis or atopic dermatitis.

Analysis of the relationship between lifestyle habits and glycosylated hemoglobin control based on data from a Health Management Plan

  • Wang, Ya-Chun;Wang, Chi;Shih, Ping-Wen;Tang, Pei-Ling
    • Nutrition Research and Practice
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    • v.14 no.3
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    • pp.218-229
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    • 2020
  • BACKGROUND/OBJECTIVES: Type 2 Diabetes mellitus (T2DM) is a hereditary disease that is also strongly dependent on environmental factors, lifestyles, and dietary habits. This study explored the relationship between lifestyle habits and glycosylated hemoglobin management in T2DM patients to provide empirical outcomes to improve T2DM management and patient health literacy. SUBJECTS/METHODS: This study enrolled 349 diabetic patients with more than 5 care visits to a Diabetes Mellitus care network under the Health Management Plan led by Taiwan Department of Health (DOH). Based on relevant literature, an Outpatient Record Form of Diabetes Mellitus Care was designed and lipid profile tests were conducted for data collection and analysis. RESULTS: When modeling the data, the results showed that the odds for HbA1c > 7.5% in T2DM patients duration over 10 years was 3.785 (P = 0.002) times that in patients with disease duration of fewer than 3 years. The odds of HbA1c > 7.5% in illiterate patients was 3.128 (P = 0.039) times that in patients with senior high school education or above. The odds of HbA1c > 7.5% in patients with other chronic illness was 2.207 (P = 0.019) times that in participants without chronic illness. Among 5 beneficial lifestyle habits, the odds of HbA1c > 7.5% in patients with 2 or 3 good habits were 3.243 (P = 0.003) and 3.424 (P = 0.001) times that in patients with more than 3 good habits, respectively. CONCLUSION: This empirical outcome shows that maintaining a good lifestyle improves T2DM management and patients' knowledge, motivation, and ability to use health information. Patients with longer disease duration, education, or good lifestyle habits had optimal HbA1c management than those in patients who did not. Thus, effective selfmanagement and precaution in daily life and improved health literacy of diabetic patients are necessary to increase the quality of T2DM care.