• Title/Summary/Keyword: high throughout sequencing

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Review of Genetic Diagnostic Approaches for Glanzmann Thrombasthenia in Korea

  • Shim, Ye Jee
    • Journal of Interdisciplinary Genomics
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    • v.3 no.2
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    • pp.41-46
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    • 2021
  • Inherited platelet function disorders (IPFDs) are a disease group of heterogeneous bleeding disorders associated with congenital defects of platelet functions. Normal platelets essential role for primary hemostasis by adhesion, activation, secretion of granules, aggregation, and procoagulant activity of platelets. The accurate diagnosis of IPFDs is challenging due to unavailability of important testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. Among several IPFDs, Glanzmann thrombasthenia (GT) is a most representative IPFD and is relatively frequently found compare to the other types of rarer IPFDs. GT is an autosomal recessive disorder caused by mutations of ITGA2B or ITGB3. There are quantitative or qualitative defects of the GPIIb/IIIa complex in platelet, which is the binding receptor for fibrinogen, von Willbrand factor, and fibronectin in GT patients. Therefore, patients with GT have normal platelet count and normal platelet morphology, but they have severely decreased platelet aggregation. Thus, GT patients have a very severe hemorrhagic phenotypes that begins at a very early age and persists throughout life. In this article, the general contents about platelet functions and respective IPFDs, the overall contents of GT, and the current status of genetic diagnosis of GT in Korea will be reviewed.

Feasibility Studies on Anaerobic Sequencing Batch Retractor for Sludge Treatment

  • Duk Chang;Joo
    • Journal of Environmental Science International
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    • v.1 no.2
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    • pp.125-136
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    • 1992
  • Digestion of a municipal wastewater sludge by the anaerobic sequencing batch reactor (ASBR) was investigated to evaluate the performance of the ASBR process at a critical condition of high-solids-content fined. The reactors were operated at an HRT of 10 days with an equivalent loading rate of 0.8-1.5 gVS/L/d at 35$^{\circ}C$ The main conclusions drawn from this study were as follows: 1. Digestion of a municipal wastewater sludge was possible using the ASBR in spite of high concentration of settleable solids in the sludge. The ASBRS with 3- and 4-day cycle period showed almost identical high digestion performances. 2. No adverse effect on digestion stability was observed In the ASBRS in spite of withdrawal and replenishment of 30% or 40% of liquid contents. A conventional anaerobic digester could be easily converted to the ASBR without any stability problem. 3. Flotation thickening occurred in thicken step of the ASBRS throughout steady state, and floating bed volume at the end of thicken period occupied about 70% of the working volume of the reactor Efficiency of flotation thickening in the ASBRS could be comparable to that of additional gravity thickening of a completely mixed digester. 4. Solids were accumulated rapidly in the ASBR during start-up period. Solids concentrations in the ASBRS were 2.6 times higher than that in the completely mixed control reactor at steady state. Dehydrogenase activity had a strong correlation with the solids concentration. Dehydrogenase activity of the digested flu형e in the ASBR was 2.9 times higher than that of the flu형e in the control reactor, and about 25 times higher than that of the subnatant in the ASBR. 5. Remarkable increase in equivalent gas production of 52% was observed at the ASBRS compared with the control reactor in spite of similar quality of clarified effluent from the ASBRS and control reactor. The increase in gas production from the ASBRS was believed to be combined results of accumulation of microorganisms, higher driving force applied, and additional long-term degradation of organics continuously accumulated.

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A Study on the Effect of Bioceramics as Biochemosorption Material in Sequencing Batch Reactor (연속회분식 반응조에서 생화학흡착제로서 바이오세라믹의 영향에 관한 연구)

  • Lee, Seunghwan;Islam, M.S.;Kang, Meea
    • Journal of Korean Society of Water and Wastewater
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    • v.20 no.3
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    • pp.367-375
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    • 2006
  • Sequencing Batch Reactor (SBR) is well adopted for community wastewater treatment for its simplicity, performance and various advantageous treatment options. SBR is now drawing attention for its process modification such as coupled with membrane bioreactor, reverse osmosis or applying different media to achieve high removal efficiency. This study focused on the improved efficiency of carbon, nitrogen and phosphorous removal by applying zeolite materials called bioceramics to the SBR. Two laboratory-scale SBR units were operated in the same operating conditions - one with bioceramics called Bioceramic SBR (BCSBR) and the other without bioceramics used as control. Routine monitoring of COD, TP, $NH_3-N$, $NO_3-N$ was performed throughout this study. COD removal was about 80% to 100% and phosphorous removal was about 60% in the process whereas $NH_3-N$ removal efficiency was found to be 99.9% in the BCSBR unit. Addition of bioceramics also improved sludge characteristics such as sludge dewaterability, specific gravity and particle size. BCSBR can withstand high ammonia shock loading leading to the better treatment capacity of high ammonia containing wastewater. The cause of improved removal efficiencies within the biological reactor could be attributed to the biochemosorption mechanisms of bioceramics. Absorption/adsorption or desorption capacity of bioceramics was tested through laboratory experiments.

Application of Anaerobic Sequencing Batch Reactor to Mesophilic Digestion of Municipal Sewage Sludge (중온 혐기성 연속회분식 공정에 의한 도시하수슬러지의 소화가능성 평가)

  • Hur, Joon-Moo;Chang, Duk;Chung, Tai-Hak;Son, Bo-Soon;Park, Jong-An
    • Journal of Environmental Health Sciences
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    • v.24 no.2
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    • pp.9-19
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    • 1998
  • Laboratory experiments were carried out to investigate the performance of anaerobic sequencing batch reactor(ASBR) for digestion of a municipal sludge. Each cycle of the ASBR comprised feeding, two-or three-day reaction, one-day thickening, and withdrawal. The reactors were operated at an HRT of 10days and 5days with an equivalent organic loading rate of 0.8-1.54 gVS/l/d, 1.81-3.56 gVS/l/d at 35$\circ$C, respectively. Solids accumulation was remarkable in the ASBR during start-up period, and directly affected by settleable solids in the feed sludge. Floatation thickening occured in the ASBRs, and Solids profiles at the end of thickening step dramatically changed at solid-liquid interface. Slight difference in solids concentrations was observed within thickened sludge bed. Efficiencies through floatation thickening were comparable to that of additional thickening of the completely mixed control reactor. Average solids concentrations in the ASBRs were 2.2-2.6 times higher than that in the control throughout the total operation period. The dehydrogenase activity had a strong correlation with the solids concentration. Organics removals based on clarified effluent of the ASBRs were consistently above 86%. Remarkable increase in equivalent gas production of 27-52% was observed at the ASBRs compared with the control though the control and ASBRs showed similiar effluent quality. Thus, digestion of a municipal sludge was possible using the ASBR in spite of high concentration of solids in the sludge.

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Profiling Total Viable Bacteria in a Hemodialysis Water Treatment System

  • Chen, Lihua;Zhu, Xuan;Zhang, Menglu;Wang, Yuxin;Lv, Tianyu;Zhang, Shenghua;Yu, Xin
    • Journal of Microbiology and Biotechnology
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    • v.27 no.5
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    • pp.995-1004
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    • 2017
  • Culture-dependent methods, such as heterotrophic plate counting (HPC), are usually applied to evaluate the bacteriological quality of hemodialysis water. However, these methods cannot detect the uncultured or viable but non-culturable (VBNC) bacteria, both of which may be quantitatively predominant throughout the hemodialysis water treatment system. Therefore, propidium monoazide (PMA)-qPCR associated with HPC was used together to profile the distribution of the total viable bacteria in such a system. Moreover, high-throughput sequencing of 16S rRNA gene amplicons was utilized to analyze the microbial community structure and diversity. The HPC results indicated that the total bacterial counts conformed to the standards, yet the bacteria amounts were abruptly enhanced after carbon filter treatment. Nevertheless, the bacterial counts detected by PMA-qPCR, with the highest levels of $2.14{\times}10^7copies/100ml$ in softener water, were much higher than the corresponding HPC results, which demonstrated the occurrence of numerous uncultured or VBNC bacteria among the entire system before reverse osmosis (RO). In addition, the microbial community structure was very different and the diversity was enhanced after the carbon filter. Although the diversity was minimized after RO treatment, pathogens such as Escherichia could still be detected in the RO effluent. In general, both the amounts of bacteria and the complexity of microbial community in the hemodialysis water treatment system revealed by molecular approaches were much higher than by traditional method. These results suggested the higher health risk potential for hemodialysis patients from the up-to-standard water. The treatment process could also be optimized, based on the results of this study.

Feasibility Studies on Anaerobic Sequencing Batch Reactor for Sludge Treatment

  • Chang Duk;Hur Joon-Moo;Son Bu-Soon;Park Jong-An;Jang Bong-Ki
    • Environmental Sciences Bulletin of The Korean Environmental Sciences Society
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    • v.1 no.2
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    • pp.125-136
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    • 1997
  • Digestion of a municipal wastewater sludge by the anaerobic sequencing batch reactor(ASBR) was investigated to evaluate the performance of the ASBR process at a critical condition of high-solids-content feed. The reactors were operated at an HRT of 10 days with an equivalent loading rate of 0.8-1.5 gVS/L/d at $35^{\circ}C.$ The main conclusions drawn from this study were as follows: 1. Digestion of a municipal wastewater sludge was possible using the ASBR in spite of high concentration of settleable solids in the sludge. The ASBRS with 3- and 4-day cycle period showed almost identical high digestion performances. 2. No adverse effect on digestion stability was observed in the ASBRS in spite of withdrawal and replenishment of $30\%\;or\;40\%$ of liquid contents. A conventional anaerobic digester could be easily converted to the ASBR without any stability problem. 3. Flotation thickening occurred in thicken step of the ASBRS throughout steady state, and floating bed volume at the end of thicken period occupied about $70\%$ of the working volume of the reactor. Efficiency of flotation thickening in the ASBRS could be comparable to that of additional gravity thickening of a completely mixed digester. 4. Solids were accumulated rapidly in the ASBR during start-up period. Solids concentrations in the ASBRS were 2.6 times higher than that in the completely mixed control reactor at steady state. Dehydrogenase activity had a strong correlation with the solids concentration. Dehydrogenase activity of the digested sludge in the ASBR was 2.9 times higher than that of the sludge in the control reactor, and about 25 times higher than that of the subnatant in the ASBR. 5. Remarkable increase in equivalent gas production of $52\%$ was observed at the ASBRS compared with the control reactor in spite of similar Quality of clarified effluent from the ASBRS and control reactor. The increase in gas production from the ASBRS was believed to be combined results of accumulation of microorganisms, higher driving force applied, and additional long-term degradation of organics continuously accumulated.

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Complete Genome Sequencing of Bacillus velezensis WRN014, and Comparison with Genome Sequences of other Bacillus velezensis Strains

  • Wang, Junru;Xing, Juyuan;Lu, Jiangkun;Sun, Yingjiao;Zhao, Juanjuan;Miao, Shaohua;Xiong, Qin;Zhang, Yonggang;Zhang, Guishan
    • Journal of Microbiology and Biotechnology
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    • v.29 no.5
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    • pp.794-808
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    • 2019
  • Bacillus velezensis strain WRN014 was isolated from banana fields in Hainan, China. Bacillus velezensis is an important member of the plant growth-promoting rhizobacteria (PGPR) which can enhance plant growth and control soil-borne disease. The complete genome of Bacillus velezensis WRN014 was sequenced by combining Illumina Hiseq 2500 system and Pacific Biosciences SMRT high-throughput sequencing technologies. Then, the genome of Bacillus velezensis WRN014, together with 45 other completed genome sequences of the Bacillus velezensis strains, were comparatively studied. The genome of Bacillus velezensis WRN014 was 4,063,541bp in length and contained 4,062 coding sequences, 9 genomic islands and 13 gene clusters. The results of comparative genomic analysis provide evidence that (i) The 46 Bacillus velezensis strains formed 2 obviously closely related clades in phylogenetic trees. (ii) The pangenome in this study is open and is increasing with the addition of new sequenced genomes. (iii) Analysis of single nucleotide polymorphisms (SNPs) revealed local diversification of the 46 Bacillus velezensis genomes. Surprisingly, SNPs were not evenly distributed throughout the whole genome. (iv) Analysis of gene clusters revealed that rich gene clusters spread over Bacillus velezensis strains and some gene clusters are conserved in different strains. This study reveals that the strain WRN014 and other Bacillus velezensis strains have potential to be used as PGPR and biopesticide.

Distribution and genetic diversity of Feline calicivirus in Moscow metropolitan area

  • Alina, Komina;Nikita, Krasnikov;Oksana, Kucheruk;Elena, Zhukova;Anton, Yuzhakov;Alexey, Gulyukin
    • Journal of Veterinary Science
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    • v.23 no.6
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    • pp.92.1-92.8
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    • 2022
  • Background: Feline calicivirus (FCV) is widespread throughout the world. An FCV infection is associated with conjunctivitis, rhinitis, and mouth ulcers that can lead to the animal's death. Because vaccination is not always effective, it is necessary to monitor the infection regularly. Objectives: This study examined the FCV epizootic situation in the Moscow metropolitan area by conducting a molecular phylogenetic analysis of the virus isolates. Methods: Samples from 6213 animals were examined by a reverse transcription polymerase chain reaction. For phylogenetic analysis, 12 nucleotide sequences obtained from animal samples were selected. Sequencing was performed using the Sanger method. Phylogenetic analysis was conducted using the Maximum Likelihood method. Results: The FCV genome was detected in 1,596 (25.7%) samples out of 6,213. In 2018, calicivirus was detected in 18.9% of samples, 27.8% in 2019, 21.4% in 2020, and 32.6% in 2021. Phylogenetic analysis of the F ORF2 region and the ORF3 start region led to division into two FCV genogroups. Most of the isolates (8 out of 12) were close to the Chinese strains. On the other hand, there were isolates closely related to European and American strains. The isolates circulating in Moscow were not included in clusters with vaccine strains; their nucleotide similarity varied from 77% to 83%. Conclusions: This study revealed a high prevalence and genetic diversity of the FCV in Moscow. The epizootic situation remains stably tense because 24 viruses were detected in 25% of animals annually.

Characteristics of Norovirus Occurrence in Jeju (제주지역 노로바이러스의 발생 특성)

  • Kim, Yun-Joo;Lee, Min-Gyu;Kam, Sang-Kyu
    • Journal of Environmental Science International
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    • v.23 no.2
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    • pp.219-229
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    • 2014
  • The occurrence trends and moleculargenetic characteristics of noroviruses detected from gastroenteritis patients in Jeju from 2008 to 2010 were investigated. In addition, the norovirus contamination and its characteristics of groundwaters in Jeju were examined. The incidence caused by norovirus in viral gastroenteritis patients has increased every year and was higher in male than in female. The patients caused by norovirus occurred throughout all months. The incidences started to increase from November, were very high from December to February, started to decrease from March, and were very low from June to September. The patients caused by norovirus occurred throughout all ages, however, the infants below 5 years were the most susceptible to norovirus infection and the age group from teens to forties were the most insensitive to norovirus infection. The sequencing analysis showed that 18 genotypes (8 genogroup I (GI) and 10 genogroup II (GII)) were detected, the incidences caused by GI and GII were 11.5% and 88.5%, respectively, and predominant genotype was GII-4 (70.5%), which was the major genotype giving rise to norovirus incidences in Jeju, together with GII-3 (6.1%) and GI-4 (4.1%). Among 20 groundwaters sampled at 9 wells (4 non-drinking water wells and 5 drinking water wells), noroviruses were detected from 2 groundwaters sampled at one non-drinking water well and their genotypes were GI-5 and GI-8.

RASA1-Related Parkes Weber Syndrome in a Neonate

  • Koh, Hong Ryul;Lee, Yeon Kyung;Ko, Sun Young;Shin, Son Moon;Han, Byoung-Hee
    • Neonatal Medicine
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    • v.25 no.3
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    • pp.126-130
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    • 2018
  • Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.