• Title/Summary/Keyword: Direct Detection

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A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia

  • Ko, Jung-Min;Kwack, Kyu-Sung;Baek, Kum-Nyeo;Cho, Dae-Yeon;Kim, Hyon-Ju
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.81-86
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    • 2009
  • Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of 12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.

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Detection and Identification of Mycobacterium Tuberculosis in Patients with Tuberculous Cervical Lymphadenitis by PCR-RFLP (경부 결핵성 임파선염 환자에서 PCR-RELP를 이용한 결핵균의 검출 및 확인)

  • Lee Sang-Sook;Cho Young-Rok;Chun Ji-Min;Choi Yong-Seok;Sohn Eun-Ju;Park Nam-Cho;Park June-Sik
    • Korean Journal of Head & Neck Oncology
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    • v.12 no.2
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    • pp.169-176
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    • 1996
  • Tuberculous cervical lymphadenitis is still an important cause of neck mass in Korea. Tuberculosis is an important differential diagnosis in patients of cervical lymphadenopathy. Rapid and sensitive test for the diagnosis of tuberculosis is essential for the approapiate treatment. Up to now, conventional diagnostic methods for M. tuberculosis were acid-fast bacilli(AFB) stain and culture of M. tuberculosis. The direct microscopic examination of AFB by Ziehl-Neelsen stain is rapid, but often negative. The culture for M. tuberculosis is time-consuming, taking 4 to 8 weeks. Recently various methods to detect Mycobacterial DNA, including PCR and restriction fragment length polymorphism(RFLP) analysis have been reported. Here we represent a simple method for the confirmation of M. tuberculosis and exclusion of the other Mycobacterial species by RFLP analysis and silver staining of polyacrylamide gel electrophoresis after nested PCR for a repetitive DNA sequence(IS986) specific for M. tuberculosis from fresh or paraffin-embedded biopsy specimens. This result leads us to conclude that this method is simple, rapid and possibly applicable to confirm M. tuberculosis and rule out the other Mycobacteria species from the clinical specimens in the clinical laboratories.

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Spatial Analysis of Skin Cancer Incidence in Iran

  • Pakzad, Reza;Ghoncheh, Mahshid;Pournamdar, Zahra;Pakzad, Iraj;Momenimovahed, Zohre;Salehiniya, Hamid;Towhidi, Farhad;Makhsosi, Behnam Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.33-37
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    • 2016
  • Skin cancer is one of the most common cancers worldwide, including in Iran. Variations in its incidence rate among geographical areas are due to various contributing factors. Since there has been a lack of studies on this topic in our country, the present spatial analysis of skin cancer incidence in Iran in 2009 was conducted using data from the cancer registry system for the country. The reported incidences of the disease were standardized on the basis of the World Health Organization population and the direct method. Then the data were inserted into the GIS software, and finally, using the analysis of hot spots (Getis-Ord Gi), high-risk areas were drawn. Provinces that were 1.9 SD higher or lower than the national average were considered hot spots or cold spots, with significance at the level of 0.05. In 2009, a total of 9,964 cases of skin cancer occurred, 3,696 in women and 6,268 in men (standardized incidence rates of 15.8 and 22.6, respectively). The results of the study showed that in men and women, the disease demonstrated high incidence in the central provinces and desert regions. In women, Yazd Province and in men, Qom Province had significant hot spots (p <0.05). While Isfahan, Markazi, Tehran and Kurdistan provinces were expected to be hot spots, the differences from the national average were not significant at the 0.05 level. As well, the provinces of Sistan Va Baluchistan, Kerman, and Hormozgan were identified as cold or low-risk disease regions (p <0.05). The central provinces of the country due to hot weather conditions, more solar radiation, and closer vicinity to the central desert of Iran demonstrated higher incidence rates for skin cancer, so further epidemiological studies into the etiology and early detection are essential in these areas.

Spatial Analysis of Colorectal Cancer in Iran

  • Pakzad, Reza;Moudi, Asieh;Pournamdar, Zahra;Pakzad, Iraj;Mohammadian-Hafshejani, Abdollah;Momenimovahed, Zohre;Salehiniya, Hamid;Towhidi, Farhad;Makhsosi, Behnam Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.53-57
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    • 2016
  • Colorectal cancer is one of the most common cancers. Due to demographic changes, it is predicted that the incidence of this cancer will increase. Variations of its incidence rate among geographical areas are due to various contributing factors. Since there have been a lack of studies on this topic in our country, the present assessment of spatial patterns of colorectal cancer incidence in Iran was performed. In this ecological study, the new cases of colon cancer were extracted from Cancer Registry Center report of the Health Deputy of Iran in 2009. The reported incidences of the disease were standardized on the basis of the World Health Organization population and the direct method. Then the data were inserted into the GIS software, and finally, using the analysis of hot spots (Getis-Ord Gi) high-risk areas were drawn. Provinces that are higher or lower than the national average (1.9 SD) were considered hot spots or cold spots, significant at the level of 0.05. A total of 6,210 cases of colorectal cancer were registered in Iran in 2009, of which 3,727 were in men and 2,783 in women (age-standardized rates of 11.3 and 10.9 per 100,000 population, respectively). The results showed that in central and northern Iran including Isfahan, Qom, Tehran, Qazvin and Mazandaran significant hot spots in men were present (p <0.05). In women also we have high incidence in northern and central states: Mazandaran province (p<0.01) and the province of Tehran (p<0.05) had higher incidences than the national average and were apparent as significant hot spots. Analysis of the spatial distribution of colorectal cancer showed significant differences between different areas pointing to the necessity for further epidemiological studies into the etiology and early detection.

Studies on the Effects of the Pine Needle Gall Midge, Thecodiplosis japonensis Uchida et Inouye, on the Growth of the Red Pine, Pinus densiflora S. et Z.(III) -Radial Growth Impact- (솔잎혹파리가 소나무생장(生長)에 미치는 영향(影響)에 관(關)한 연구(硏究)(III) -직경생장저해(直徑生長沮害)-)

  • Park, Ki Nam;Hyun, Jai Sun
    • Journal of Korean Society of Forest Science
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    • v.65 no.1
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    • pp.48-53
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    • 1984
  • Using the Duff and Noland's method, the annual ring growth patterns of the red pine in the natural stands were examined at two locations; Seocheon, Chungnam-do where the stand had been infested with the pine needle gall midge, Thecodiplosis japonensis, during the years from 1975 to 1978, and Hongsong, Chungnam-do where had been no incidence of the insect damage. The results obtained are as follows: 1) With the normal red pine of 13 year old, the growth pattern in the oblique sequence indicates that the annual growth rates are maximum at the few terminal internodes, and decrease gradually with the downward internodes. Such characteristic of the growth pattern is not clear in the horizontal sequence of annual rings. 2) The indications of the radial growth reduction of the pine tree due to the pine gall midge infestation could be examined with any of three series at the crown level internodes; horizontal, vertical and oblique series. For the basal internodes, however, the horizontal series appeared to be inadequate for the analysis of the damage impact because it seemed to be masked by various factors other than direct effects of the damage. 3) Of the three ways of radial growth analyses, oblique sequence seems to be the most usefull, especially for the detection of the impact on growth caused by incipient or light infestation.

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Establishment of I-131, Tc-99m Labeling Methods to In-house Anti-CEA Antibodies and Evaluation of the Immunological Characteristics (국산 항 CEA 항체의 I-131, Tc-99m 표지법 확립 및 면역학적 특성 분석)

  • Chung, June-Key;Lee, Dong-Soo;Lee, Myung-Chul;Chung, Hong-Keun;Koh, Chang-Soon;Hong, Mee-Kyoung;Choi, Seok-Rye;Seo, Il-Taek;Chung, Jun-Ho
    • The Korean Journal of Nuclear Medicine
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    • v.26 no.2
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    • pp.346-354
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    • 1992
  • Cancer cells have several tumor-associated antigens on the cell surfaces, and antibodies against these antigens have been developed by many investigators. Radiolabeled antibodies have been used as new methods to diagnose and treat malignant tumors. Especially anti-carcinoembryonic antigen (CEA) is the most popular antibody for these purposes. In this investigation, we tried to label $^{131}I$ and $^{99m}Tc $ to anti-CEA monoclonal antibodies which were developed in the Seoul National University College of Medicine. We found CEA-79 and CEA-92 antibodies had the better immunological characteristics among 8 anti-CEA monoclonal antibodies. And radioiodination of CEA-79 could be performed by chloramine-T method, while radioiodination of CEA-92 by iodogen method. To label these antibodies with $^{99m}Tc $, we used pretargeting transchelation as direct labeling method. At first, $^{99m}Tc $ was bound to glucaric acid, and monoclonal antibody was reduced by $\beta-mercaptoethanol$. When these were incubated together. $^{99m}Tc $ bound to glucarate was switched to monoclonal antibody because of higher affinity. We established conditions of several steps in this method. Anti-CEA monoclonal antibodies labeled with $^{131}I$ and $^{99m}Tc $ are expected to be used valuably in the detection and treatment of malignant tumors.

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Diversity of Acid-Tolerant Epiphytic Bacterial Communities on Plant Leaves in the Industrial Area and the Natural Forest Area Based on 16S rDNA (16S rDNA 염기서열에 의한 청정지역 및 공단지역 내 식물잎권의 내산성세균 군집의 다양성)

  • 정필문;신광수;임종순;이인수;박성주
    • Korean Journal of Microbiology
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    • v.37 no.4
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    • pp.265-272
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    • 2001
  • The diversity of acid-tolerant epiphytic bacterial communities on deciduous oak tree (Quercus dentate Thunb.) leaves was examined both in the natural forest area with a clean air and in the industrial estate to assess effects of acidic depositions to the phyllosphere using 16S rDNA sequence data. A total of 444 acid-tolerant epiphytic bacterial clones were obtained, resulting in 17 phylotypes by performing a analysis of restriction fragment length polymorphism (RFLP) for PCR-amplified 16S rDNA products. A very low diversity of dominating acid tolerant bacterial communities in both areas was found, just 2 subphyla groups, $\gamma$-Proteobacteria and low-G+C gram-positive bacteria. As tree leaves grow older, diversities of acid-tolerant bacteria on them significantly increased. The community structure of acid-tolerant epiphytic bacteria consisted of Pseudomonas and Enterobacteriaceae groups in the $\gamma$-Proteobacteria subphylum, and Streptococcaceae and Staphylococcus groups in the low-G+C gram-positive bacteria subphylum. The direct influence of acidic depositions on bacterial phylogenetic composition could not be detected especially when higher taxonomic levels such as subphylum, but at narrower or finer levels it could be observed by a detection of Xanthomonadales group belonged to the $\gamma$-Proteobacteria only in the industrial area and of Acetobacteraceae group belonged to the $\alpha$-Proteobacteria. There remains that these specific acid-tolerant epiphytic bacterial groups could be used as indicators for assessing effects of acidic depositions on the phyllosphere.

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Determination of Volatile Organic Compounds emitted from Municipal Solid Waste Landfill Site by Thermal Desorption-Cryofocusing-GC/FID/FPD (열탈착-저온농축-GC/FID/FPD에 의한 도시 생활폐기물 매립장에서 방출되는 휘발성 유기화합물의 측정에 관한 연구)

  • Kim, Man-Goo;Jung, Young-Rim;Seo, Young-Min;Nam, Sung-Hyun;Kwon, Young-Jin
    • Analytical Science and Technology
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    • v.14 no.3
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    • pp.274-285
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    • 2001
  • In this study, the thermal desorption-cryofocusing-gas chromatographic(TD-C-GC) method was developed for determination of volatile organic compounds(VOCs) in ambient air and was applied at the municipal solid waste landfill sites. On-column cryofocusing was possible only with a 100 ml dewars bottle in TD-C-GC method with a stainless steel column. However, high operating pressure was needed for purging VOCs from the absorbent trap, which was able to solve by pressure programming with a electric pressure controller. By using both pressure and temperature programming brought increasing of resolution power in on-column cryofocusing method, but the high pressure caused a leakage of sample tube with repeated use. A loop cryofocusing devise was also developed and compared with the direct on-column method. In loop cryofocusing method, VOCs were concentrated on a 0.8mm i.d. loop which is located between the injector and separation column by using liquid nitrogen. In order to purge VOCs from the absorbent trap, only 0.4 psi of pressure was need in the loop cryofocusing method. Dual detection system was applied for the analysis of VOCs; a FID was used for hydrocarbons and a FPD was used for sulfur-containing compounds. Qualitative analysis was done by on-column cryofocusing GC-MS system. Among the large number of VOCs, toluene was the most abundant. Hydrogen sulfide, dimethyl sulfide, carbon disulfide, dimethyl disulfide and methyl propyl disulfide were detected at landfill site by FPD.

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Influences of Thermal Effluents on the Epilithic Algal Community in Small Stream Originating from the Seokjung Hot Spring (온천 배수 유입에 따른 소형 하천의 생태계 변화와 회복에 관한 연구 -소형 하천에서 온천 배수가 부착조류 군집에 미치는 영향)

  • 정연태;문연자;김미연;최민규;길봉섭
    • Korean Journal of Environmental Biology
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    • v.17 no.3
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    • pp.345-358
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    • 1999
  • To study the influences of thermal effluents flowing from hot spring on epilithic algal community, seasonal survey was carried out at stream and its watersheds from Seokjeong hot spring in Chollabuk-Do, Korea. Totally 7 points were divided into three regions fur sampling of water and epilithic algae, such as the direct effected, uneffected and the mixed region, respectively. At the discharging points of effluents, a dark-green cyanobacterial mat were remarkably constructed, mainly by two cyanobacteria, Oscillatoria and Phormidium. The mat formation were more obvious at low temperature than any other season, and even result in disappear with downstream and season. Totally, one hundred and fifty-three taxa of epilithic algae were classified with 15 unidentified species. Among the, diatoms occupied 58% of total species, whereas cyanobacteria was 67% of total biomass, comparatively. In terms of stream direction, relative abundance of cyanobacteria was only limited in the upstream in cold season, and result in this pattern disappeared with season change. Although all physicochemical variables at the discharging points, was very high, compare to other points, they were quickly decreased downstream. Among them, some heavy metals were not detected or below the detection levels at downstream. Nitrate nitrogen increased with downstream, as well as phosphorus and sulfate have a similar trend throughout, while ammonia quickly decreased in the initial period of discharging effluents. This suggest that although the thermal effluent with high temperature and organic compounds could polluted the small study stream, various contributions such as flowing water, intake of uneffected streawater and collaboration of cyanobacterial mat and stream bottom gradually induces a stable water system.

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Survey of Aflatoxin B1 in Domestic Doenjang and Kochujang Determined by Enzyme Linked-Immunosorbent Assay (효소면역측정법에 의한 국내산 된장과 고추장 중 Aflatoxin B1의 오염도 조사)

  • Bae, Soo-Ick;Kwak, Bo-Yeon;Park, Yun-Kyung;Kim, Young-Ho;Shon, Dong-Hwa
    • Journal of Food Hygiene and Safety
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    • v.18 no.3
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    • pp.95-100
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    • 2003
  • Competitive direct enzyme-linked immunosorbent assay(cdELISA) of aflatoxin $B_1$ ($AFB_1$) in deonjang(Korean-style soybean paste) and kochujang(fermented hot peppersoybean paste) and the level of $AFB_1$ in modern or traditional style deonjang and gochujang, produced in Korea, was surveyed by cdELISA. From the standard curve of the cdELISA, the detection limit of $AFB_1$ was 0.2 ng/m/. The average recovery of $AFB_1$ was 71.5% in the range of 1~100 ng/g after spiking $AFB_1$ into deonjang and it means that it could be possible to detect the $AFB_1$ in these range by the cdELISA in deonjang. Among the 30 kochujangs tested, no $AFB_1$ was detected in kochujangs. Among the 30 deonjangs, $AFB_1$ was detected in 6 ones in the range of 1.0~6.0 ng/g. The occurrence of $AFB_1$ in deonjang and kochujang tested in this study was less than the Korea Standard and Specification of aflatoxin in foods (10 ppb).