• Title/Summary/Keyword: identification of disease

Search Result 1,300, Processing Time 0.033 seconds

MLPA Applications in Genetic Testing (유전자진단에 있어서 Multiplex Ligation Dependent Probe Amplification (MLPA)의 이론과 실제)

  • Kim, Gu-Hwan;Lee, Beom-Hee;Yoo, Han-Wook
    • Journal of Genetic Medicine
    • /
    • v.6 no.2
    • /
    • pp.146-154
    • /
    • 2009
  • Multiplex ligation dependent probe amplification (MLPA) is a PCR-based method to detect gene dosage. Since its introduction, MLPA has been used to test a large number of genes for major deletions or duplications. Genetic testing, as a diagnostic tool for genetic disease, has been used primarily to identify point mutations, including base substitutions and small insertions/deletions, using PCR and sequence analysis. However, it is difficult to identify large deletions or duplications using routine PCR- gel based assays, especially in heterozygotes. The MLPA is a more feasible method for identification of gene dosage than another routine PCR-based methods, and better able to detect deleterious deletions or duplications. In addition to detection of gene dosage, MLPA can be applied to identify methylation patterns of target genes, aneuploidy during prenatal diagnoses, and large deletions or duplications that may be associated with various cancers. The MLPA method offers numerous advantages, as it requires only a small amount of template DNA, is applicable to a wide variety of applications, and is high-throughput. On the other hand, this method suffers from disadvantages including the possibility of false positive results affected by template DNA quality, difficulties identifying SNPs located in probe sequences, and analytical complications in quantitative aspects.

  • PDF

Identification of Cold Stress-related Proteins in Rice Leaf Tissue (벼의 잎 조직에서 발현되는 저온 스트레스 관련 단백질의 분리 동정)

  • Lee Dong-Gi;Lee Sang-Hoon;Lee Byung-Hyun
    • Journal of The Korean Society of Grassland and Forage Science
    • /
    • v.25 no.4
    • /
    • pp.287-296
    • /
    • 2005
  • To investigation protein expression pattern in rice leaves exposed to cold stress, the soluble proteins extracted from leaf tissue were fractionated with $15\%$ PEG and separated by two-dimensional polyacrylamide gel electrophoresis (2-DE). Differentially expressed proteins were identified by peptide mass fingerprinting using matrix assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS). Eight proteins up-regulated and 10 down-regulated were found in $15\%$ PEG supernatant fraction. In addition, 13 proteins up-regulated and 14 down-regulated were found in $15\%$ PEG pellet fraction. It was identified the differentially expressed proteins in $15\%$ PEG supernatant fraction as pimerase/dehydratase fructokinase, ribose-5-phosphate isomerase (Rpi), chaperonin 21 precursor, probable photosystem II oxygen-envolving complex (PS II OEC) protein 2 precursor and thioredoxin h-type (Trx-h) and those in $15\%$ PEG pellet fraction as OSINBb0059K02.15, hypothetical protein, putative mitogen-activated protein kinase kinase (MAPKK), beta 7 subunit of 205 proteasome, ribulose-1, 5-bisphosphate carboxylase/oxygenase (Rubisco) small subunit. These proteins are involved in metabolism, energy, protein synthesis, disease/defense and signal transduction-related proteins.

Identification of Characteristics and Risk Factors Associated with Mortality in Hydrops Fetalis (태아수종의 특성 및 사망률과 연관된 위험인자)

  • Ko, Hoon;Lee, Byong-Sop;Kim, Ki-Soo;Won, Hye-Sung;Lee, Pil-Ryang;Shim, Jae-Yoon;Kim, Ahm;Kim, Ai-Rhan
    • Neonatal Medicine
    • /
    • v.18 no.2
    • /
    • pp.221-227
    • /
    • 2011
  • Purpose: The objectives were to identify the characteristics of neonates with hydrops fetalis, and to identify the risk factors associated with mortality. Methods: A retrospective review of AMC (Asan Medical Center) dataset was performed from January 1990 to June 2009. The characteristics of 71 patients with hydrops fetalis were investigated and they were divided into two groups: the survived group and the expired group. Various perinatal and neonatal factors in two groups were compared to find out risk factors associated with mortality based on univariate analysis, followed by multiple regression analyses (SPSS version 18.0). Results: Of those 71 neonates (average gestational age: 33 weeks, birth weight: 2.6 kg), 38 survived, 33 died, resulting in overall mortality rate of 46.5%. The most common etiology was idiopathic followed by chylothorax, cardiac anomalies, twin-to-twin transfusion, meconium peritonitis, cardiac arrythmias, and congenital infections. Factors that were associated independently with mortality in logistic regression analyses were low 5-minutes Apgar score, hyaline membrane disease and delayed in achieving 50th percentile ideal body weight for appropriate gestational age by 10 days. Conclusion: In this study, 5-minutes Apgar score, hyaline membrane disease and delayed in achieving 50th percentile ideal body weight for appropriate gestational age by 10 days were significant risk factors associated with mortality in hydrops fetalis. Therefore, the risk of death among neonates with hydrops fetalis depends on the illness immediately after birth and severity of hydrops fetalis. Informations from this study may prove useful in prediction of prognosis to neonates with hydrops fetalis.

Comparison of the Bacterial and Fungal Colonies from Rana dybowskii which Collected from Inside and Outside Frog Farms and Identification of the Bacteria from the Tadpoles (개구리 증양식장 내·외부에서 채집된 북방산개구리(Rana dybowskii)로부터 검출된 세균과 곰팡이 콜로니 수의 비교 및 유생으로부터 확인된 세균 규명)

  • Kwon, Sera;Park, Daesik;Choi, Woo-Jin;Park, Jae-Jin;Cho, Han-Na;Han, Ji-Ho;Lee, Jin-Gu;Koo, Kyo-Soung
    • Korean Journal of Environment and Ecology
    • /
    • v.31 no.5
    • /
    • pp.444-454
    • /
    • 2017
  • There are many ongoing studies of infectious diseases as the major factor responsible for global declining of the amphibian population. Although some point out the amphibian rearing facilities like frog farms as one of the important sources of harboring and spreading amphibian infectious pathogens in the wild, there have been few related studies in South Korea. In this study, we investigated the bacterial and fungal colonies on the skin and in the internal organs of frogs and tadpoles collected inside and outside of Dybowski's brown frog farms in Inje, Goesan, and Gongju to compare the difference according to the region and between inside and outside the farm. We also intended to classify the bacteria collected from the tadpoles into species by analyzing 16s rDNA gene sequences. The result showed that the number of bacterial colonies found in the skin and gut of frogs and the number of fungal colonies found in the skin and liver of frogs collected in Goesan was significantly greater than those in the frogs in Inje. However, there was no difference between the frogs collected inside and outside of farms in both regions. In the case of tadpoles, the number of fungal colonies in the tadpoles collected from Gongju was greater than that in the tadpoles collected from Inje. The comparison of inside and outside frog farms showed that there were more bacterial colonies on the skin of the tadpoles collected from inside than outside the frog farm in Inje and more bacterial colonies in the organs of the tadpoles collected from outside than inside the farm in Gongju. The frogs with higher condition factor (body weight/snout-vent length*100) showed fewer bacterial colonies on the skin and fewer fungal colonies in the heart, but there were no significant relationships in tadpoles. We identified the total of 15 genera and four phyla of bacteria, but the difference according to regions and between inside and outside farm was not evident. The result of this study indicates that the different conditions according to the locality of farm and between inside and outside farm cause the difference in the population sizes of bacterial and fungal colonies and that it can affect the overall health condition of Dybowski's brown frogs in the farm. Moreover, the result suggests that effective disease control in the facility is greatly necessary to ensure successful operation of amphibian rearing facility and to prevent the possible spread of diseases from the facility to the wild.

MRI study of temporomandibular joint disorder in orthodontic patients (교정환자에서 MRI를 이용한 측두하악관절 장애의 연구)

  • Kim, Tae-Woo;Byun, Eun-Sun;Baek, Seung-Hak;Chang, Young-Il;Nahm, Dong-Seok;Yang, Won-Sik
    • The korean journal of orthodontics
    • /
    • v.30 no.2 s.79
    • /
    • pp.235-243
    • /
    • 2000
  • Magnetic resonance imaging(MRI) of the temporomandibular joint(TMJ) is very useful method to diagnose internal derangement of the TMJ because of its high specificity foy identification of condyle-disc relationships. The purpose of this study was to evaluate the existence, incidence and severity o』 internal derangement o』 the TMJ by the MRI of Patients who are suspected to have TMJ disorder. MRI sample was composed of 50 subjects(10 males, 40 females) and the mean age was 22.9 years. 43 subjects of the sample were found to have positive findings. $56\%$ of the subjects with positive findings had ADD(anterior disc displacement) without reduction, and $65\%$ had internal derangement of bilateral joints. Distributions in the types of malocclusion in patients with positive findings, the Angle's classification had shown : the largest $41.9\%$ for Cl II ($39.6\%$ for Cl II div 1 and $2.3\%$ for Cl II div 2), $37.2\%$ for Cl I, $18.6\%$ for Cl III, and $2.3\%$ for the unidentified. $8.6\%$ of the subjects with positive findings had facial asymmetry and $55.8\%$ had openbite. We can conclude that the percentage of Cl II is the highest in patients with internal derangement of the TMJ. Openbite or facial asymmetry is considered to be uncompensated or compensated deformity which results from facial skeleton remodeling in the process of degenerative joint disease(DJD) due to TMJ degeneration. Therefore it is recommended to screen the patients with facial asymmetry or openbite by MRI before the beginning of orthodontic treatment. Differential diagnosis is essential because the tendency of relapse is high after the orthodontic treatment and continuous observation of TMJ is needed in patients with TMJ disorder.

  • PDF

MicroRNA-23b is a Potential Tumor Suppressor in Diffuse Large B-cell Lymphoma (미만성 거대 B 세포 림프종(DLBCL)에서 microRNA-23b의 잠재적 종양 억제자로서의 효과)

  • Nam, Jehyun;Kim, Eunkyung;Kim, Jinyoung;Jeong, Dawoom;Kim, Donguk;Kwak, Bomi;Kim, Sang-Woo
    • Journal of Life Science
    • /
    • v.27 no.2
    • /
    • pp.149-154
    • /
    • 2017
  • Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-hodgkin lymphoma. Advances in the chemotherapeutic treatment of this disease have improved the outcomes of DLBCL; nonetheless, many patients still die of DLBCL, and therefore, a better understanding of this disease and identification of novel therapeutic targets are urgently required. In a recent gene expression profiling study, PDE (phosphodiesterase) 4B was found to be overexpressed in chemotherapy-resistant tumors. The major function of PDE4B is to inactivate the second messenger cyclic 3',5' monophosphate (cAMP) by catalyzing the hydrolysis of cAMP to 5'AMP. It is known that cAMP induces cell cycle arrest and/or apoptosis in B cells, and PDE4B abolishes cAMP's effect on B cells. However, the mechanism by which PDE4B is overexpressed remains unclear. Here, we show that the aberrant expression of miRNA may be associated with the overexpression of this gene. The PDE4B 3' untranslated region (UTR) has three functional binding sites of miR-23b, as confirmed by luciferase reporter assays. Interestingly, miR-23b-binding sites were evolutionarily conserved from humans to lizards, implying the critical role of PDE4B-miR-23b interaction in cellular physiology. The ectopic expression of miR-2 3b repressed PDE4B mRNA levels and enhanced intracellular cAMP concentrations. Additionally, miR-23b expression inhibited cell proliferation and survival of DLBCL cells only in the presence of forskolin, an activator of adenylyl cyclase, suggesting that miR-23b's effect is via the downregulation of PDE4B. These results together suggest that miR-23b could be a therapeutic target for overcoming drug resistance by repressing PDE4B in DLBCL.

Analysis of Potential Infection Site by Highly Pathogenic Avian Influenza Using Model Patterns of Avian Influenza Outbreak Area in Republic of Korea (국내 조류인플루엔자 발생 지역의 모델 패턴을 활용한 고병원성조류인플루엔자(HPAI)의 감염가능 지역 분석)

  • EOM, Chi-Ho;PAK, Sun-Il;BAE, Sun-Hak
    • Journal of the Korean Association of Geographic Information Studies
    • /
    • v.20 no.2
    • /
    • pp.60-74
    • /
    • 2017
  • To facilitate prevention of highly pathogenic avian influenza (HPAI), a GIS is widely used for monitoring, investigating epidemics, managing HPAI-infected farms, and eradicating the disease. After the outbreak of foot-and-mouth disease in 2010 and 2011, the government of the Republic of Korea (ROK) established the GIS-based Korean Animal Health Integrated System (KAHIS) to avert livestock epidemics, including HPAI. However, the KAHIS is not sufficient for controlling HPAI outbreaks due to lack of responsibility in fieldwork, such as sterilization of HPAI-infected poultry farms and regions, control of infected animal movement, and implementation of an eradication strategy. An outbreak prediction model to support efficient HPAI control in the ROK is proposed here, constructed via analysis of HPAI outbreak patterns in the ROK. The results show that 82% of HPAI outbreaks occurred in Jeolla and Chungcheong Provinces. The density of poultry farms in these regions were $2.2{\pm}1.1/km^2$ and $4.2{\pm}5.6/km^2$, respectively. In addition, reared animal numbers ranged between 6,537 and 24,250 individuals in poultry farms located in HPAI outbreak regions. Following identification of poultry farms in HPAI outbreak regions, an HPAI outbreak prediction model was designed using factors such as the habitat range for migratory birds(HMB), freshwater system characteristics, and local road networks. Using these factors, poultry farms which reared 6,500-25,000 individuals were filtered and compared with number of farms actually affected by HPAI outbreaks in the ROK. The HPAI prediction model shows that 90.0% of the number of poultry farms and 54.8% of the locations of poultry farms overlapped between an actual HPAI outbreak poultry farms reported in 2014 and poultry farms estimated by HPAI outbreak prediction model in the present study. These results clearly show that the HPAI outbreak prediction model is applicable for estimating HPAI outbreak regions in ROK.

A study on The Pulse taking diagnostics of Nan Jing 1-23 Nan (난경(難經) 1-23난중(難中) 맥학조(脈學條)에 관한 연구(硏究))

  • Kim, Bup-Jin;Park, Won-Hwan
    • The Journal of Dong Guk Oriental Medicine
    • /
    • v.8 no.2
    • /
    • pp.131-154
    • /
    • 2000
  • Nan Jing(Difficult Classic), as a catechism, describes in detail and deeply the ideas in Nei Jing(Huangdi's Internal Classic). The description of Nan Jing is focused on basic theories including theories about some disease and is excellent in identification and analysis. The contents of Nan Jing are as follows: 1-23 Nan-pulse and pulse condition, 24~29 Nan-channels and collaterals, 30~47 Nan-viscera and bowels(Zang Fu organs), 48~61 Nan-disease, 62~68 Nan-acupuncture points, 69~91 Nan-acupuncture. Especially, diagnosis techniques in Nan Jing make 'Only method of cunkou pulse taking' that is a technique for feeling the pulse widely applied in these days in Oriental medicine clear. Thus, this book adjusts the theory of pulse and pulse condition given in 1~23 Nan of 'The Study of Nan Jing' in order to enhance an understanding about the theory of pulse and pulse condition. The text of 1~23 Nan about pulse lore centers on all pulse of human body interconnected each other and cunkou, both ends of the pulse, and contrasts regular pulse with irregular pulse. 1. 10 Nan describes the theory about five kinds of evils and hardness and softness, and unique pulse condition of each bowels. 2. 13 Nan explains that the relative difficulty of medical treatment is determined by the degree of balance or unbalance among three factors-colors, pulse and pulse condition, flesh shape. 3. 14 Nan divides pulse and pulse condition into slow pulse and rapid pulse, and explains separately abnormality, great loss of semen, death caused by slow pulse, and abnormality, great loss of semen, death caused by rapid pulse. 4. 15 Nan about taut pulse(弦), full pulse(鉤), floating pulse(毛), deep pulse(石脈) describes that pulse and pulse condition differs according to four seasons. Therefore, Nan Jing establishes clearly techniques of feeling the pulse in 'Only method of cunkou pulse taking(獨取寸口)' and advances the theory of Nei Jing. Futhermore, Nan Jing is more valuable in that it suggests unique theory different with Nei Jing.

  • PDF

A Prospective Study on Duodenitis, Duodenal Ulcer, and Gastric Metaplasia in Children Infected by Helicobacter pylori (Helicobacter pylori에 감염된 소아에서 십이지장염, 십이지장 궤양 및 위 상피화생에 대한 전향적 연구)

  • Lee, Jung Bok;Im, Hae Ra;Jung, Dong Hae;Ryoo, Eell;Jeon, In-Sang;Cho, Kang Ho;Sun, Young Han;Hong, Hee-Joo;Tchah, Hann
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.7 no.2
    • /
    • pp.170-178
    • /
    • 2004
  • Purpose: Helicobacter pylori (H. pylori) infection has been known to be vital in the pathogenesis of duodenal ulcer disease in children as well as in adults. But the relationship between H. pylori infection and the histopathologic findings of the duodenum has not been explained obviously in children yet. So the aim of this study is to determine whether duodenitis and/or gastric metaplasia in the duodenum increases the risk of duodenal ulcer disease in children infected by H. pylori. Methods: From October 2001 to April 2004 gastric and duodenal biopsies were performed in 177 children who visited Department of Pediatrics, Gil Hospital, Gachon Medical School. Biopsy sections were stained with hematoxylin and eosin and also with Giemsa for identification of H. pylori. The grades of duodenitis and gastric metaplasia were classified from 0 to 3 and from 0 to 4, respectively. Results: The incidence of H. pylori infection was 54% in total patients. Amongst 163 children with duodenitis there was a lack of correlation between H. pylori infection and the grade of duodenitis. Amongst 11 patients with duodenal ucler, only 4 children were infected by H. pylori. And amongst 5 patients with gastric metaplasia, H. pylori and duodenal ulcer were detected in 2 and 3 children, respectively. The occurrence of duodenal ulcer and gastric metaplasia were increased significantly in proportion to the grade of duodenitis (p<0.0001 and p=0.0365, respectively). Conclusion: As opposed to the results of previously reported articles, there were lacks of correlation between H. pylori infection and duodenitis, duodenal ulcer, and gastric metaplasia. So further study hould be done to clarify the effect of H. pylori on the duodenal histopathology in children infected by H. pylori.

  • PDF

Identification and Measurement of Hospital-Related Fears in Hospitalized School-Aged Children (학령기 입원아동의 병원관련 공포에 관한 탐색연구)

  • 문영임
    • Journal of Korean Academy of Nursing
    • /
    • v.25 no.1
    • /
    • pp.61-79
    • /
    • 1995
  • When children are admitted to hospital, they have to adapt to new and unfamiliar stimuli. Children may respond with fear to stimuli such as pain or unfamiliar experiences. One goal of nursing is to help hospitalized children to adapt effectively to their hospital experience. Accordingly, nurses need to assess childrens' fears of their hospital experience to contribute to the planning of care to alleviate these fears. The problem addressed by this study was to identify and measure hospital-related fears(hereafter called HRF) in hospitalized school-aged children. The study was conceptualized with Roy's model. A descriptive qualitative approach was used first, followed by a quantitative approach. This study was conducted from November 30, 1989 to January 12, 1991. The sample consisted of 395 hospitalized school-aged children selected through an allocated sampling technique in nine general hospitals. The HRF questionnaire (three point likert scale ) was developed by a delphi technique. The data were analyzed by an SAS program. Factor analysis was used for the examination of component factors. Differences in the HRF related to demographic variables were examined by t-test, analysis of variance and the Scheffe test. The crude scores of the HRF scale were transformed into T- scores to calculate the standard scores. The results included the following : 1. Forty-four items were derived from 188 statements identifying the childrens' hospital-re-lated fears. These items clustered into 14 factors, fear of injections, operations, bodily harm others' pain, medical rounds, physical examinations, medical staff, disease process, blood and X-rays, drugs and cockroaches, tests, harsh discipline from parents or staff, being absent from school, and separation from family. The 14 factors was classified into four categories,'pain','the unfamiliar','the un-known' and 'separation'. 2. The reliability of the HRF instruments was .92(Cronbach's alpha). In the factor analysis, Cronbach's alpha coefficients for the 14 factors ranged from .84 to .86 and Cronbach's alpha coefficients for the four categories ranged from .70 to .84. Pearson correlation coefficient scores for relationships among the 14 factors ranged from ,11 to .50, and among the four categories, from ,44 to ,63, indicating their relative independence. 3. The total group HRF score ranged from 45 to 130 in a possible range of H to 132, with a mean of 74.51. The fears identified by the children were, in order, injections, harsh discipline by parents or staff, bodily harm, operations, medical staff, disease process, and medical rounds ; the least feared was others' pain. The fear item with the highest mean score was surgery and the lowest was examination by a doctor. HRF scores were higher for girls than for boys, and for grade 1 students than for grade 6 students. HRF scores were lower for children whose fathers were over 40 than for those whose fathers were in the 30 to 39 age group, and whose mothers were over 35 than for those whose mothers were in the 20 to 34 age group. HRF scores were lower when the mother rather than any other person stayed with the child. The expressed fear of pain, the unfamiliar, the un-known and of separation directs nurses' concern to the threat felt by hospitalized children to their concept of self. This study contributes to the assessment of fears of hospitalized children and of stimuli impinging on those fears. Accordingly, nursing practice will be directed to the alleviation of pain, pre-admission orientation to the hospital setting and routines, initiation of information about procedures and experiences and arrangments for mothers to stay with their children. Recommendations were made for further research in different settings and for development and testing of the instrument.

  • PDF