• 제목/요약/키워드: Genetic test

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Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report

  • Juhyung Kim;Soyoon Hwang;Narae Hwang;Yeonji Lee;Hee Jeong Cho;Joon Ho Moon;Sang Kyun Sohn;Dong Won Baek
    • Journal of Yeungnam Medical Science
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    • 제40권3호
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    • pp.283-288
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    • 2023
  • Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.

Novel non-invasive molecular identification method for two tree frogs, Dryophytes suweonensis and Dryophytes japonicus, based on high resolution melting(HRM) analysis

  • Nakyung Yoo;Keun-Yong Kim;Jung Soo Heo;Ju-Duk Yoon;Keun-Sik Kim
    • 환경생물
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    • 제40권2호
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    • pp.199-205
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    • 2022
  • Two tree frogs, Dryophytes suweonensis and Dryophytes japonicus, inhabiting Korea, are morphologically similar and share the same habitats. Therefore, they are identified mainly through their calls, especially for males. Dryophytes suweonensis is registered as an endangered (IUCN: EN grade) and protected species in South Korea. Thus, it is necessary to develop a method to rapidly identify and discriminate the two species and establish efficient protection and restoration plans. We identified significant genetic variation between them by sequencing a maternally-inherited mitochondrial 12S ribosomal DNA region. Based on the sequence data, we designed a pair of primers containing 7bp differences for high resolution melting(HRM) analysis to rapidly and accurately characterize their genotypes. The HRM analysis using genomic DNA showed that the melting peak for D. suweonensis was 76.4±0.06℃, whereas that of D. japonicus was 75.0±0.05℃. The differential melt curve plot further showed a distinct difference between them. We also carried out a pilot test for the application of HRM analysis based on immersing D. suweonensis in distilled water for 30 min to generate artificial environmental DNA(eDNA). The results showed 1.10-1.31℃ differences in the melting peaks between the two tree frog samples. Therefore, this HRM analysis is rapid and accurate in identifying two tree frogs not only using their genomic DNA but also using highly non-invasive eDNA.

경남지역 야생 멧돼지의 바이러스성 질병 감염 실태 조사 (The prevalence of viral diseases in wild boars (Sus scrofa) in Gyeongsangnam-do, South Korea)

  • 김철호;손용우;최유정;고병효;강원화;김경애;이승윤;김우현
    • 한국동물위생학회지
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    • 제46권1호
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    • pp.59-66
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    • 2023
  • Wild boar is closely related to domestic pigs in terms of genetic homogeneity and the possibility of a source of infection by contact. This study investigated the prevalence of viral diseases from wild boars inhabiting Gyeongsangnam-do, South Korea. A total of 374 blood samples were collected and subjected to antigen tests to detect African swine fever virus (ASFV), Porcine circovirus type-2 (PCV2), Porcine reproductive and respiratory syndrome virus (PRRSV). For seroprevalence, PCV2, PRRS, classical swine fever virus (CSFV), Aujezsky's disease (ADV), and foot and mouth disease virus (FMDV) were investigated. The antigenic analysis revealed 73 positive cases (19.5%) for PCV2, while no positive cases for ASFV and PRRSV. For the antibody test, 225 (60.2%), 2 (0.5%), and 48 (12.8%) cases were detected against PCV2, PRRSV, and CSFV, respectively. There were no antibodies detected against both ADV and FMDV. Our results suggest that the viruses infecting both wild boar and domestic pig, mainly PCV2, are circulating in the wild boar population thus, the consistent monitoring of prevalence in wild boar will be needed for transboundary spillover to the domestic pig.

Effects of the crude protein concentration on the growth performance and blood parameters in growing Hanwoo steers (Bos taurus coreanae)

  • Seoyoung, Jeon;Hyunjin, Cho;Hamin, Kang;Kyewon, Kang;Mingyung, Lee;Enkyu, Park;Seokman, Hong;Seongwon, Seo
    • 농업과학연구
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    • 제48권4호
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    • pp.975-985
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    • 2021
  • The sufficient amount of protein supply is crucial for improving the growth performance of growing beef cattle. In addition, due to the improvement in the genetic potential of the carcass weight of Hanwoo steers, dietary protein requirements may be increased during the rapid growth period. Accordingly, the dietary crude protein (CP) level in growing Hanwoo steers has been increasing in the field. However, little scientific evidence is available in relation to this. Therefore, this study was conducted to test whether a higher dietary CP level than convention would improve the growth performance and body metabolism in growing Hanwoo steers. Fifty growing Hanwoo steers were randomly divided into two groups and fed either a commercial diet (CON) or a higher CP (HCP) concentrate mix, provided with a similar level of dietary energy. Tall fescue hay was provided ad libitum. The dietary CP level did not affect growth performance and blood metabolite. Nitrogen intake, predicted nitrogen excretion, and retained nitrogen were higher in the HCP group than in the CON group (p < 0.01). Although there was no difference in the nitrogen utilization efficiency, the growth efficiency per retained nitrogen decreased in the HCP group (p = 0.02). A higher dietary CP level may increase nitrogen retention in growing Hanwoo steers without improving growth performance, which leads to reduced growth efficiency per retained nitrogen. Furthermore, considering the high price of feed protein and increased nitrogen excretion to the environment, a further increase in the protein level may not be sustainable.

Identification and Characterization of Pseudomonas syringae pv. syringae, a Causative Bacterium of Apple Canker in Korea

  • Seunghee, Lee;Wonsu, Cheon;Hyeok Tae, Kwon;Younmi, Lee;Jungyeon, Kim;Kotnala, Balaraju;Yongho, Jeon
    • The Plant Pathology Journal
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    • 제39권1호
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    • pp.88-107
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    • 2023
  • In the present investigation, bacterial isolates from infected apple trees causing apple canker during winter were studied in the northern Gyeongbuk Province, Korea. The pathogen was identified as Pseudomonas syringae pv. syringae (Pss) through various physiological and biochemical characterization assays such as BIOLOG, gas chromatography of fatty acid methyl esters, and 16S rRNA. Bioassays for the production of phytotoxins were positive for syringopeptin and syringomycin against Bacillus megaterium and Geotrichum candidum, respectively. The polymerase chain reaction (PCR) method enabled the detection of toxin-producing genes, syrB1, and sypB in Pss. The differentiation of strains was performed using LOPAT and GATTa tests. Pss further exhibited ice nucleation activity (INA) at a temperature of -0.7℃, indicating an INA+ bacterium. The ice-nucleating temperature was -4.7℃ for a non-treated control (sterilized distilled water), whereas it was -9.6℃ for an INA- bacterium Escherichia coli TOP10. These methods detected pathogenic strains from apple orchards. Pss might exist in an apple tree during ice injury, and it secretes a toxin that makes leaves yellow and cause canker symptoms. Until now, Korea has not developed antibiotics targeting Pss. Therefore, it is necessary to develop effective disease control to combat Pss in apple orchards. Pathogenicity test on apple leaves and stems showed canker symptoms. The pathogenic bacterium was re-isolated from symptomatic plant tissue and confirmed as original isolates by 16S rRNA. Repetitive element sequence-based PCR and enterobacterial repetitive intergenic consensus PCR primers revealed different genetic profiles within P. syringae pathovars. High antibiotic susceptibility results showed the misreading of mRNA caused by streptomycin and oxytetracycline.

Improvement of Abiotic Stress Resilience for Stable Rice Production

  • Dongjin Shin;Hyunggon Mang;Jiyun Lee
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.13-13
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    • 2022
  • Recently, stable crop production is threatened by the effects of climate change. In particular, it is difficult to consistently maintain agricultural policies due to large price fluctuations depending on the difference in total domestic rice production from year to year. For stable rice production amid changes in the crop growing environment, development of varieties with improved disease resistance and abiotic stress stability is becoming more important. In here, drought and cold tolerant trait have been studied. First, for the development of drought tolerant varieties, we analyzed which agricultural traits are mainly affected by domestic drought conditions. As a result, it was observed that drought caused by the lack of water during transplanting season inhibits the development of the number of tiller and reduces the yield. 'Samgang' was selected as a useful genetic resource with strong drought tolerant and stable tiller number development even under drought conditions by phenotype screening. Three of drought tolerant QTLs were identified using doubled haploid (DH) population derived from a cross between Nacdong and Samgang, a drought sensitive and a tolerant, respectively. Among these QTLs, when qVDT2 and qVDTl1 were integrated, it was investigated that the tiller number development was relatively stable in the rainfed paddy field conditions. It is known that the high-yielding Tongil-type cultivars are severely affected by cold stress throughout the entire growth stage. In this study, we established conditions that can test the cold tolerance phenotype with alternate temperature to treat low temperatures in indoor growth conditions similar to those in field conditions at seedling stage. Three cold tolerant QTLs were explored using population derived from a cross between Hanareum2 (cold sensitive variety, Tongil-type) and Unkwang (cold tolerant variety, Japonica). Among these QTLs, qSCT12 showed strong cold tolerant phenotype, and when all of three QTLs were integrated, it was investigated that cold tolerant score was relatively similar to its donor parent, Unkwang, in our experimental conditions. We are performing that development of new variety with improved cold tolerant through the introduction of these QTLs.

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New typhoid vaccine using sponge-like reduced protocol: development and evaluation

  • Rehab Bahy;Asmaa Gaber;Hamdallah Zedan;Mona Mabrook
    • Clinical and Experimental Vaccine Research
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    • 제12권1호
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    • pp.70-76
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    • 2023
  • Purpose: Typhoid remains a major health problem, especially in the developing world. Furthermore, the emergence of multidrug-resistant and extensively drug-resistant strains of Salmonella typhi added a sense of urgency to develop more effective typhoid vaccines, one of which is bacterial ghosts (BGs), prepared by both genetic and chemical means. The chemical method includes incubation with numerous agents for a short time at their minimum inhibitory or minimum growth concentrations. This study included the preparation of BGs by a sponge-like reduced protocol (SLRP). Materials and Methods: Critical concentrations of sodium dodecyl sulfate, NaOH, and H2O2 were used. Moreover, high-quality BGs were visualized by scanning electron microscope (SEM). Subculturing was used to confirm the absence of vital cells. Besides, the concentrations of the released DNA and protein were estimated spectrophotometrically. In addition, the integrity of cells was proved by visualizing Gram-stained cells using a light microscope. Furthermore, a comparison between the immunogenicity and safety of the prepared vaccine and the available whole-cell killed vaccine was established. Results: Improved preparation of high-quality BGs of S. typhi, visualized by SEM, revealed punctured cells with intact outer shells. Moreover, the absence of vital cells was confirmed by subculturing. At the same time, the release of respective amounts of proteins and DNA is another evidence of BGs' production. Additionally, the challenge test provided evidence that the prepared BGs are immunogenic and have the same efficacy as the whole cell vaccine. Conclusion: The SLRP provided a simple, economical, and feasible method for BGs preparation.

Characterization of Extended Spectrum Beta-Lactamases (ESBL) Producing Escherichia coli Isolates from Surface Water Adjacent to Pharmaceutical Industries in Bangladesh: Antimicrobial Resistance and Virulence Pattern

  • Taslin Jahan Mou;Nasrin Akter Nupur;Farhana Haque;Md Fokhrul Islam;Md. Shahedur Rahman;Md. Amdadul Huq;Anowar Khasru Parvez
    • 한국미생물·생명공학회지
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    • 제51권3호
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    • pp.268-279
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    • 2023
  • The pharmaceutical industry in Bangladesh produces a diverse range of antibiotics for human and animal use, however, waste disposal management is inadequate. This results in substantial quantities of antibiotics being discharged into water bodies, which provide suitable environment for the growth of antibiotic-resistant bacteria, capable of spreading resistance genes. This study intended for exploring the bacterial antibiotic resistance profile in adjoining aquatic environmental sources of pharmaceutical manufacturing facilities in Bangladesh. Seven surface water samples were collected from the vicinity of two pharmaceutical industries located in the Savar area and 51 Escherichia coli isolates were identified using both phenotypic and genotypic methods. Antibiotic susceptibility tests revealed the highest percentage of resistance against ampicillin, azithromycin, and nalidixic acid (100%) and the lowest resistance against meropenem (1.96%) out of sixteen different antibiotics tested. 100% of the study E. coli isolates were observed with Multidrug resistance phenotypes, with the Multiple Antibiotic Resistance (MAR) value ranging from 0.6-1.0. Furthermore, 69% of the isolates were Extended Spectrum Beta-Lactamases (ESBL) positive as per the Double Disk Diffusion Synergy Test (DDST). ESBL resistance genes blaTEM, blaCTX-M-13, blaCTX-M-15, and blaSHV were detected in 70.6% (n = 36), 60.8% (n = 32), 54.9% (n = 28), and 1.96% (n = 1) of the isolates, respectively, by Polymerase Chain Reaction (PCR). Additionally, 15.68% (n = 8) of the isolates were positive for E. coli specific virulence genes in PCR. These findings suggest that pharmaceutical wastewater, if not properly treated, could be a formidable source of antibiotic resistance spread in the surrounding aquatic environment. Therefore, continued surveillance for drug resistance among bacterial populations around drug manufacturing facilities in Bangladesh is necessary, along with proper waste disposal management.

Bacteriophage Cocktail Comprising Fifi044 and Fifi318 for Biocontrol of Erwinia amylovora

  • Byeori Kim;Seung Yeup Lee;Jungkum Park;Sujin Song;Kwang-Pyo Kim;Eunjung Roh
    • The Plant Pathology Journal
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    • 제40권2호
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    • pp.160-170
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    • 2024
  • Erwinia amylovora is a plant pathogen that causes fire blight on apples and pears. Bacteriophages, which are viruses that selectively infect specific species of bacteria and are harmless to animal cells, have been considered as biological control agents for the prevention of bacterial pathogens. In this study, we aimed to use bacteriophages that infect E. amylovora as biocontrol agents against fire blight. We isolated bacteriophages Fifi044 and Fifi318 infecting E. amylovora, and characterized their morphology, plaque form, and genetic diversity to use as cocktails for disease control. The stabilities of the two phages were investigated at various temperatures and pH values and under sunlight, and long-term storage experiment was conducted for a year. To evaluate whether the two phages were suitable for use in cocktail form, growth curves of E. amylovora were prepared after treating the bacterial cells with single phages and a phage cocktail. In addition, a disease control test was conducted using immature apples and in vitro cultured apple plantlets to determine the biocontrol effects of the phage cocktail. The two phages were morphologically and genetically different, and highly stable up to 50℃ and pH value from 4 to 10. The phages showed synergistic effect when used as a cocktail in the inhibition of host bacterial growth and the disease control. This study demonstrated that the potential of the phage cocktail as a biocontrol agent for commercial use.

Gerstmann-Sträussler-Scheinker병: 증례 보고 (Gerstmann-Sträussler-Scheinker Disease: A Case Report)

  • 신민지;김동현;허영진;백진욱;윤수영;정해웅
    • 대한영상의학회지
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    • 제84권3호
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    • pp.745-749
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    • 2023
  • Gerstmann-Strssler-Scheinker (이하 GSS) disease는 드문 유전성 프라이온 질환으로 초기에 발생해 진행하는 소뇌실조와 후기에 발생하는 인지기능 저하가 특징적이다. 저자들은 진행하는 보행장애와 5개월 후 발생한 구음 장애, 인지 기능 저하를 주소로 내원한 39세 남성 환자의 증례를 보고하고자 한다. 뇌 MRI에서 양측 대뇌피질과 기저핵, 시상에 확산 저하를 동반한 T2 강조영상에서의 고신호 강도 병변이 관찰되었다. 환자는 모두 40-50대에 비슷한 증상을 호소하였던 가족력을 동반하였으며 PRNP 유전자 검사를 통해 GSS로 확진되었다.