• Title/Summary/Keyword: Genetic Disease

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Pedicled Deep Inferior Epigastric Perforator Flap for Treatment of Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma in the Groin - Case Report - (심부하복벽동맥 천공지 유경 피판을 이용한 이영양성 수포성 표피박리증에 합병된 서혜부 편평 세포 상피암의 치료 - 증례 보고 -)

  • Kim, Kyung-Pil;Kim, Ji-Hoon;Kim, Eui-Sik;Hwang, Jae-Ha;Kim, Kwang-Seog;Lee, Sam-Yong
    • Archives of Reconstructive Microsurgery
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    • v.19 no.2
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    • pp.97-100
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    • 2010
  • Purpose: Epidermolysis bullosa is a rare genetic disease, characterized by the presence of extremely fragile skin and formation of recurrent blister resulting from even a minor mechanical injury. Squamous cell carcinoma (SCC) is recognized as a complication of the chronic scarring associated with dystrophic epidermolysis bullosa (DEB). When a soft tissue defect happens in a patient with epidermolysis bullosa, it is difficult to cover it with a skin graft or a flap. We describe the successful use of a pedicled deep inferior epigastric perforator flap for the reconstruction of SCC associated with DEB in the groin. Methods: A 29-year-old man diagnosed with DEB at birth sustained an ulcer increasing in the right groin for the last 7 months. Under general anesthesia, the mass lesion and lymph nodes were removed and the resulting defect was covered with a pedicled deep inferior epigastric perforator flap. Results: The flap survived completely and his postoperative course was uneventful. Histopathological examination revealed a SCC in the right groin and malignant tumor cells in the removed lymph nodes as well. Additional positron emission tomogram showed a malignant lesion in the ileocecal area with regional lymph node metastasis. The patient was referred to an oncologist for chemotheraphy, but the patient refused to take it. During a 4-month follow-up period, there was no recurrence in the right groin. Conclusion: We suggest that perforator flaps can be considered as a reliable alternative for the reconstruction of soft tissue defects in a patient with DEB.

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Human and Animal Disease Biomarkers and Biomonitoring of Deoxynivalenol and Related Fungal Metabolites as Cereal and Feed Contaminants (곡물 및 사료오염 데옥시니발레놀 및 대사체에 의한 인축질환 연계 생체지표 및 바이오모니터링)

  • Moon, Yuseok;Kim, Dongwook
    • Journal of Food Hygiene and Safety
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    • v.29 no.2
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    • pp.85-91
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    • 2014
  • Deoxynivalenol (DON) and related trichothecene mycotoxins are extensively distributed in the cereal-based food and feed stuffs worldwide. Recent climate changes and global grain trade increased chance of exposure to more DON and related toxic metabolites in poorly managed production systems. Monitoring the biological and environmental exposures to the toxins are crucial in protecting human and animals from toxicities of the hazardous contaminants in food or feeds. Exposure biomarkers including urine DON itself are prone to shift to less harmful metabolites by intestinal microbiota and liver metabolic enzymes. De-epoxyfication of DON by gut microbes such as Eubacterium strain BBSH 797 and Eubacterium sp. DSM 11798 leads to more fecal secretion of DOM-1. By contrast, most of plant-derived DON-glucoside is also easily catabolized to free DON by gut microbes, which produces more burden to body. Phase 2 hepatic metabolism also contributes to the glucuronidation of DON, which can be useful urine biomarkers. However, chemical modification could be very typical depending on the anthropologic or genetic background, luminal bacteria, and hepatic metabolic enzyme susceptibility to the toxins in the diet. After toxin exposure, effect biomarkers are also important in estimating the linkage and mechanisms of foodborne diseases in human and animal population. Most prominent adverse effects are demonstrated in the DON-induced immunological and behavioral disorders. For instance, acutely elevated interleukin-8 from insulted gut exposed to dietaty DON is a dominant clinical biomarker in human and animals. Moreover, subchronic exposure to the toxins is associated with high levels of serum IgA, a biological mediator of IgA nephritis. In particular, anorexia monitoring using mouse models are recently developed to monitor the biological activities of DON-induced feed refusal. It is also mechanistically linked to alteration of serotoin and peptide YY, which are promising biomarkers of neurological disorders by the toxins. As animal-alternative biomonitoring, huamn enterocyte-based assay has been developed and more realistic gut mimetic models would be useful in monitoring the effect biomarkers in resposne to toxic contaminants in the future investigations.

Development of Molecular Markers Conferring Bacterial Leaf Pustule Resistance Gene, rxp, using Resistant and Susceptible Cultivars in Soybean (콩 불마름병 저항성 및 감수성 품종을 이용한 rxp 유전자 근접 분자표지 개발)

  • Yang, Kiwoung;Lee, Yeong Hoon;Ko, Jong Min;Jeon, Myeong Gi;Lee, Byong Won;Kim, Hyun Tae;Yun, Hong Tae;Jung, Chan Sik;Baek, In Youl
    • Korean Journal of Breeding Science
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    • v.43 no.4
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    • pp.282-287
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    • 2011
  • Bacterial pustule (BP) is a leaf disease of soybean that is most common in Korea. Inoculation of 8ra, pathogen strain, to resistant and susceptible cultivars for finding the BP resistance gene (rxp) was much tried but the sequence of the exact gene is not found. This research performed in order to confirm the rxp gene near molecular marker by using the resistant and susceptible cultivars. Soybean BP resistance gene which related to region of near molecular marker could select the resistant cultivar. For the near molecular marker of rxp, reference genomics data available at sequenced Phytozome was used for designing molecular markers. The rxp was mapped between Satt372 and Satt486 on chromosome 17. According to previous study, rxp released in find mapping 7.2 Mbp to 7.3 Mbp on chromosome 17. In this study, we developed 3 random markers near from 6.6 Mbp to 7.3 Mbp on chromosome 17 identified to increase the genetic resolution of the rxp gene region using resistant and susceptible cultivars. Particularly, Rxp17-700 marker was mostly coincided resistance and susceptible genotype to rxp. This result suggests that Rxp17-700 marker will be more tightly linked to rxp gene.

Scab Resistance of Some Pear Genetic Resources and Inter Specific Hybrid Seedlings in Field Condition (포장조건에서 주요 배 유전자원과 종간교배 집단의 검은별무늬병 저항성)

  • Kim, Yoon-Kyeong;Jeong, Hae-Won;Won, Kyung-Ho;Kang, Sam-Seok;Lee, Ug-Yong;Han, Tae-Ho
    • Korean Journal of Plant Resources
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    • v.32 no.4
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    • pp.296-302
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    • 2019
  • This study was accomplished to select breeding materials among the pear germplasm 6 species 43 accessions and check out the expression of scab incidence of inter specific hybrids of 5 crosses 609 seedlings for scab resistance breeding. Fruitlets scab incidence of P. pyrifolia, P. bretschneideri and P. ussuriensis were 59.5, 73.4 and 63.0% respectively, and also fruitlets scab incidence of interspecific hybrid cultivars between P. pyrifolia and P. bretschneideri were 77.7%. However, fruitlets scab incidence of P. communis and interspecific hybrid accessions between P. pyrifolia and P. communis were significantly less than 15%. As a result of the Duncan test, scab resistance of pear accessions were classified into two groups: P. communis and their hybrid were resistance and P. bretschneideri, P. pyrifolia, P. ussuriensis, and among their hybrid were susceptible. Also, it showed the same trend in the seedlings. Scab incidence of 'Seolwon' ${\times}$ 'Chuwhangbae' and 'Supergold' ${\times}$ 'Mantienhong' in P. pyrifolia seedlings showed more than 80%, while that of interspecific hybrid between P. pyrifolia and P. communis showed about 2%. It showed scab resistance of P. communis transferred to hybrid seedlings and expressed to be dominant in their seedlings. Namely, P. communis was good breeding materials for scab resistance.

SREBP-1c Ablation Protects Against ER Stress-induced Hepatic Steatosis by Preventing Impaired Fatty Acid Oxidation (지방산 산화 장애 제어를 통한 SREBP-1c 결핍의 소포체 스트레스 유발 비알콜성지방간 보호작용)

  • Lee, Young-Seung;Osborne, Timothy F.;Seo, Young-Kyo;Jeon, Tae-Il
    • Journal of Life Science
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    • v.31 no.9
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    • pp.796-805
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    • 2021
  • Hepatic endoplasmic reticulum (ER) stress contributes to the development of steatosis and insulin resistance. The components of unfolded protein response (UPR) regulate lipid metabolism. Recent studies have reported an association between ER stress and aberrant cellular lipid control; moreover, research has confirmed the involvement of sterol regulatory element-binding proteins (SREBPs)-the central regulators of lipid metabolism-in the process. However, the exact role of SREBPs in controlling lipid metabolism during ER stress and its contribution to fatty liver disease remain unknown. Here, we show that SREBP-1c deficiency protects against ER stress-induced hepatic steatosis in mice by regulating UPR, inflammation, and fatty acid oxidation. SREBP-1c directly regulated inositol-requiring kinase 1α (IRE1α) expression and mediated ER stress-induced tumor necrosis factor-α activation, leading to a reduction in expression of peroxisome proliferator-activated receptor γ coactivator 1-α and subsequent impairment of fatty acid oxidation. However, the genetic ablation of SREBP-1c prevented these events, alleviating hepatic inflammation and steatosis. Although the mechanism by which SREBP-1c deficiency prevents ER stress-induced inflammatory signaling remains to be elucidated, alteration of the IRE1α signal in SREBP-1c-depleted Kupffer cells might be involved in the signaling. Overall, the results suggest that SREBP-1c plays a crucial role in the regulation of UPR and inflammation in ER stress-induced hepatic steatosis.

Association of the Risk of Leukemia and Non-Hodgkin's Lymphoma (NHL) with Environmental Agents (모 지역의 소아 백혈병 및 악성림프종 발병 사례와 환경적 요인의 연관성 조사)

  • Park, Dong-Uk;Choi, Sangjun;Youn, Kanwoo;Kim, So-Yeon;Kim, Hee-Yun;Park, Yun-Kyung;Kim, Won;Iim, Sanghyuk;Park, Jihoon
    • Journal of Environmental Health Sciences
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    • v.45 no.3
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    • pp.203-212
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    • 2019
  • Objective: A total of five students at same middle school were reported to be diagnosed with pediatric leukemia (n=2), non-Hodgkin's lymphoma (NHL, n=1) and aplastic anemia (n=2) between 2016 and 2017. The aims of this study are to assess exposure to environmental hazardous agents known to be associated with the risk of leukemia and to examine whether the environment of school is associated with the risk leukemia. Method: A total of 11 environmental agents causing childhood leukemia were monitored using international certified method in schools where patients had ever attended. Radon & Thoron detector was used to monitor real-time airborne radon and thoron level ($Bq/m^3$). Clinician interviewed two among nine patients who agreed to participate in this study in order to examine the association of demographic and genetic factors by individually. Leukemia, NHL, and aplastic anemia were grouped into lymphohematopoietic disorder (LHP). Results: Except for airborne radon level, no environmental agents in school and household where patients may be exposed were found to higher than recommended airborne level. Clinical investigation found no individual factors that may be associated with the risk of LHP. Higher airborne radon level than Korea EPA's airborne radon criteria ($148Bq/m^3$) was monitored at most of several after-class room of one elementary school, where two leukemia patients graduated. Significant radon level was not monitored at class-room. Significant exposure to radon of patients was not estimated based on time-activity pattern. Conclusions: Our results have concluded that there have been no environmental factors in school and household environment that may be associated the risk of LHP.

Nematode-Trapping Fungi Showed Different Predacity among Nematode Species (선충 종류별 4종 포식성곰팡이의 포식력 차이)

  • Kang, Heonil;Choi, Insoo;Park, Namsook;Bae, Changhwan;Kim, Donggeun
    • Research in Plant Disease
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    • v.25 no.3
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    • pp.149-155
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    • 2019
  • Nematode-trapping fungi develop trap and consume nematodes are an important part of the subsoil ecosystem and they share a special predator-prey relationship. Four nematode-trapping species, there with adhesive network, Arthrobotrys oligospora, A. sinensis, A. thaumasia and one with constricting ring, Drechslerella brochopaga were collected from soils in Korea and tested their predacity against 12 different nematode species. They were three feeding groups, plant-parasitic (Meloidogyne incognita and Pratylenchus penetrans), fungivorous (Aphelenchus avenae), bacteriovorous (Betlerius sp. and Diplogasteritus sp. in diplogasterid, Panagrolaimus labiatus, P. multidentatus in panagrolaimid, Mesorhabditis irregularis, Pelodera strongyloides and Rhabditis sp., in rhabditid, and Acrobeloides sp. in cephalobid). Results showed that nematode-trapping fungi successfully captured most of nematodes in Petri dish in the group of plant-parasitic nematodes and rhabditids, moderately and variably in other nematodes in 15 days. But it didn't captured A. avenae and Acrobeloides sp. both belongs to c-p group 2. Numbers of Acrobeloides sp. and A. avenae even increased during the test period. The results of this study indicated that nematode-trapping fungi may have specificity among nematode species.

Detection of genome-wide structural variations in the Shanghai Holstein cattle population using next-generation sequencing

  • Liu, Dengying;Chen, Zhenliang;Zhang, Zhe;Sun, Hao;Ma, Peipei;Zhu, Kai;Liu, Guanglei;Wang, Qishan;Pan, Yuchun
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.3
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    • pp.320-333
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    • 2019
  • Objective: The Shanghai Holstein cattle breed is susceptible to severe mastitis and other diseases due to the hot weather and long-term humidity in Shanghai, which is the main distribution centre for providing Holstein semen to various farms throughout China. Our objective was to determine the genetic mechanisms influencing economically important traits, especially diseases that have huge impact on the yield and quality of milk as well as reproduction. Methods: In our study, we detected the structural variations of 1,092 Shanghai Holstein cows by using next-generation sequencing. We used the DELLY software to identify deletions and insertions, cn.MOPS to identify copy-number variants (CNVs). Furthermore, we annotated these structural variations using different bioinformatics tools, such as gene ontology, cattle quantitative trait locus (QTL) database and ingenuity pathway analysis (IPA). Results: The average number of high-quality reads was 3,046,279. After filtering, a total of 16,831 deletions, 12,735 insertions and 490 CNVs were identified. The annotation results showed that these mapped genes were significantly enriched for specific biological functions, such as disease and reproduction. In addition, the enrichment results based on the cattle QTL database showed that the number of variants related to milk and reproduction was higher than the number of variants related to other traits. IPA core analysis found that the structural variations were related to reproduction, lipid metabolism, and inflammation. According to the functional analysis, structural variations were important factors affecting the variation of different traits in Shanghai Holstein cattle. Our results provide meaningful information about structural variations, which may be useful in future assessments of the associations between variations and important phenotypes in Shanghai Holstein cattle. Conclusion: Structural variations identified in this study were extremely different from those of previous studies. Many structural variations were found to be associated with mastitis and reproductive system diseases; these results are in accordance with the characteristics of the environment that Shanghai Holstein cattle experience.

Fibromyalgia from the Psychiatric Perspective (정신과적 관점에서의 섬유근통)

  • Lee, Yunna;Lee, Sang-Shin;Kim, Hyunseuk;Kim, Hochan
    • Korean Journal of Psychosomatic Medicine
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    • v.28 no.2
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    • pp.99-107
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    • 2020
  • Fibromyalgia is a disorder characterized by the core symptom of chronic widespread pain, along with fatigue, sleep disturbances, mood changes, and cognitive difficulties. The etiology of fibromyalgia involves a combination of biological factors, such as genetic vulnerability, alterations in pain processing and stress response system ; psychological factors, such as anxiety, depression, anger, and perceived stress ; environmental factors, such as infections, febrile diseases, and trauma. Central sensitization, which is amplified in the process of sensory stimulation, has been emphasized as a key etiological factor, as supported by enhanced wind-up, delayed aftersensation, decreased nociceptive flexion reflex threshold and functional imaging studies. Several guidelines recommend that a multimodal approach be used to treat fibromyalgia, including both pharmacological and non-pharmacological treatments, tailored to each individual, and that clinicians should provide an intellectual framework through sufficient education and emphasis on the importance of self-management. The prevalence of mood disorders, anxiety disorders, and other psychiatric problems is 7-9 times higher in patients with fibromyalgia than in the general population ; moreover, the association between fibromyalgia and certain psychopathologies or sleep problems has also been suggested. Since psychiatric problems, with shared vulnerabilities and risk factors, interact with fibromyalgia bidirectionally and also affect the disease course, an integrated management approach is needed to determine the risk of comorbidities.

Isolation and identification of tick-borne pathogens in hard ticks collected in Daejeon (대전 주택가 산책로 진드기의 인수공통전염병 병원체 감염실태 조사)

  • Han, So-young;Sung, Sun-hye;Seo, Jin-woo;Kim, Jong-ho;Lee, Seok-ju;Yoo, Sang-sik
    • Korean Journal of Veterinary Service
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    • v.44 no.2
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    • pp.93-102
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    • 2021
  • In this study, a total of 9,449 hard ticks were collected once a month from April to October 2020 from a neighborhood park in Daejeon by flagging & dragging method and CO2 manned trap method. The collected ticks were classified according to the Yamagutsi search table using a stereoscopic microscope and molecular biological analysis of four pathogens (SFTSV, Anaplasma spp., Ehrlichia spp., Borrellia spp.). As a result of the study, Haemaphysalis longicornis were collected the most in all areas of the five boroughs at a rate of 82 to 96 percent, while adults were collected the most in May to July, nymphs were collected the most in April to June, and larvae from August to October at a rate of 78 percent to 98 percent. In pathogens, three cases of SFTSV were detected, showing a minimum infection rate (MIR) of 0.46%, while Anaplasma spp. and Ehrlichia spp. were detected one each, with 0.15% and Borrelia spp. with a minimum infection rate of 0.46%. The detected SFTSV showed 99.9% homogeneity with the KF781490 detected in Cheongwon-gun, Chungbuk Province, Anaplasma spp. showed 99.0% homogeneity with JN990105 detected in China, and Erhlichia spp. showed 98.9% genetic similarity with U96436 separated from the U.S. In this study, the distribution status and pathogen infection rate of the hard ticks in the Daejeon area are analyzed and provided as basic data for the prevention of the hard tick-borne infectious disease.