• Title/Summary/Keyword: deficiency of Gi

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COMPLEX DISTRACTION OSTEOGENESIS ON HEMIMANDIBULAR HYPOPLASIA : A CASE REPORT (하악과두 골절후 발생한 편측성 하악골 형성부전의 치료로서 복합적 악골 신장술의 임상증례)

  • Oh, Sung-Hwan;Min, Seung-Gi;Kwon, Kyong-Hwan;Koh, Se-Wook;Lee, Kyong-Seuk
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.30 no.3
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    • pp.246-250
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    • 2004
  • Uni- or bilateral mandibular hypoplasia can be associated with various syndromes or is acquired after early traumatic or inflammatory disease in the temporomandibular joint(TMJ). Early treatment is necessary to avoid consequent impairment of midfacial growth. The standard treatment of these malformations consists of the application of bone grafts which can lead to unpredictable growth, but the new procedure of bone lengthening which was presented by McCarthy et al. represents a limited surgical intervention and therefore open up a new perspective of treatment, especially in younger children with severe deformities. Patients with hemifacial microsomia and facial asymmetry have a vertically short maxilla, a tilted occlusal plane, and a short mandible. A 14-years-old boy with facial asymmetry, who was fractured on both condyle and mandibular symphysis before 8 years ago, was treated by mandibular ramus lengthening, symphysial widening and surgically assisted rapid palatal expansion with corticotomy. After allowing 1 week for the healing of the periosteum, the distraction was performed at the rate of 0.5-1.0mm per day for 7 days on maxilla and 14 days on mandible. The device was maintained on maxilla and mandible for 12 weeks following distraction. The difference in ramus and mandibular transverse deficiency were corrected and facial asymmetry was improved with complex distraction osteogenesis.

Korean Children with Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy: Experiences in a Single Institution (단일 기관에서 경험한 비후성 심근병증으로 발현된 영아형 폼페병)

  • Ko, Jung Min;Lee, Young Ah;Kim, Gi Beom;Park, Sung Sup;Song, Jung-Han
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.12 no.1
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    • pp.42-48
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    • 2012
  • Pompe disease is a rare lysosomal glycogen storage disorder caused by a total or partial deficiency of the acid ${\alpha}$-glucosidase (GAA) enzyme due to the GAA gene mutations. The classic infantile form of Pompe disease is a rapidly progressive multi-organ disease with hypotonia, generalized muscle weakness, and hypertrophic cardiomyopathy, usually leading to death in the first 2 years of life. Enzyme replacement therapy with recombinant human GAA has been shown to be effective and subsequently yielded promising results. Here, we present clinical and genetic characteristics of three Korean non-classic infantile Pompe patients, and the short term efficacy of enzyme replacement therapy. Considering that enzyme replacement therapy can change the natural course of infantile Pompe disease, early diagnosis and early initiation of treatment is critical to improving patient outcomes.

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Results of Thumb-pulp Loss Reconstruction with a Heterodigital Neurovascular Island Flap Using a Nerve Disconnecting-Reconnecting Technique (무지 피부 결손에 신경 분리-문합을 이용한 이종 수지 신경혈관 도서형 유경 피판술의 결과)

  • Chung, Duke-Whan;Kim, Gi-Bong
    • Archives of Reconstructive Microsurgery
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    • v.10 no.2
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    • pp.169-174
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    • 2001
  • Purpose : The problems of late deterioration of sensation and a double sensibility phenomenon are a known deficiency of the original neurovascular island flap. To eliminate this problems, the authors was performed to assess the results of Thumb-pulp loss reconstruction with a heterodigital neurovascular island Flap Using a Nerve Disconnecting-Reconnecting Technique Material and Methods : Between July. 1987 and November. 2000, we have used a disconnecting-reconnecting technique for heterodigital island flaps in which divided nerve of the transferred island flap is sutured to original nerve of the thumb in 9 patients. 9 patients with a mean follow-up period of 3.6 years were examined, while 7 patients were follow-up for 2years or more. Evaluation of results was based on flap quality, donor site quality, classic two-point sensory discrimination(2PD), and location of sensation(double sensibility), donor site cold intolerance, neuroma formation, scar contractures, total active movement(TAM) of the thumb and donor digit and subjective results and objective results. Results : The two-point discrimination was average 6.7 mm. Donor site paresthesia was observed more frequently in a short postoperative period. Sensation was referred to the thumb in all cases and the recovery occurred over a period of a two months. There were no flap complication or failures and the length of the thumb tip was preserved in all cases. Conclusion : This technique was found to provide well-vascularized pulp of the thumb with proper cortical representation in one operative stage.

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Correlation-based and feature-driven mutation signature analyses to identify genetic features associated with DNA mutagenic processes in cancer genomes

  • Jeong, Hye Young;Yoo, Jinseon;Kim, Hyunwoo;Kim, Tae-Min
    • Genomics & Informatics
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    • v.19 no.4
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    • pp.40.1-40.11
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    • 2021
  • Mutation signatures represent unique sequence footprints of somatic mutations resulting from specific DNA mutagenic and repair processes. However, their causal associations and the potential utility for genome research remain largely unknown. In this study, we performed PanCancer-scale correlative analyses to identify the genomic features associated with tumor mutation burdens (TMB) and individual mutation signatures. We observed that TMB was correlated with tumor purity, ploidy, and the level of aneuploidy, as well as with the expression of cell proliferation-related genes representing genomic covariates in evaluating TMB. Correlative analyses of mutation signature levels with genes belonging to specific DNA damage-repair processes revealed that deficiencies of NHEJ1 and ALKBH3 may contribute to mutations in the settings of APOBEC cytidine deaminase activation and DNA mismatch repair deficiency, respectively. We further employed a strategy to identify feature-driven, de novo mutation signatures and demonstrated that mutation signatures can be reconstructed using known causal features. Using the strategy, we further identified tumor hypoxia-related mutation signatures similar to the APOBEC-related mutation signatures, suggesting that APOBEC activity mediates hypoxia-related mutational consequences in cancer genomes. Our study advances the mechanistic insights into the TMB and signature-based DNA mutagenic and repair processes in cancer genomes. We also propose that feature-driven mutation signature analysis can further extend the categories of cancer-relevant mutation signatures and their causal relationships.

A Study on "Dongchunohji(洞天奧旨)" ("동천오지(洞天奧旨)"에 관한 소고(小考))

  • Kim, Ki-Wook;Park, Hyun-Guk
    • Journal of Korean Medical classics
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    • v.22 no.2
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    • pp.85-99
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    • 2009
  • This book was completed in the 33rd year of Gang-hui-gapsul(康熙 甲戌) in the Cheong(淸) dynasty(1694), and was first inscribed in the 55th year of Geonryung(乾隆). In this first edition named 'Daechudangbon(大雅堂本)', his descendant Jinbonghui(陳鳳輝) wrote the postscript. There are also other editions such as 'Ga-gyeong-ganchwihyeondangbon(嘉慶間聚賢堂本)', 'Wimundanggeonsangbon(緯文堂巾箱本)' and 'Guangseo-ganseonseongdangbon(光緒間善成堂本)' Second, this book was called "Oe-gwabirok(外科秘錄)" and used the pen name 'Gibaekchunsasojeon(岐伯天師所傳)'. There are 16 volumes in total. The beginning of volume one, is a drawing of the 14 meridians. Volumes 1$\sim$4 are on the symptoms and treatment of abscesses and sores and ulcers[癰疽瘡瘍]. Volumes 5$\sim$13 are on surgery, dermatology and 156 diseases such as wounds by contusion, sharp objects and insects and beasts[跌撲, 金刃, 蟲獸傷]. Volumes 14$\sim$16 list the internal treatments, external medicine, acupuncture and moxibustion and surgery of sores and ulcers. Third, the book stressed early detection and treatment of diseases, emphasized inner resolving[內消] being cautious about using medicine, and further deepened the syndrome differentiation and treatment[辨證施治] of sores and ulcers[瘡瘍] by dividing fire toxin(火毒) into Eumhwa and Yanghwa(陰火/陽火). Also, it established the cause of sores and ulcers development as the deficiency of Gi(氣) and blood[血] and focused especially on the liver and kidney's involvement in the process. It also asserted that the pathogen[邪] is the tip[標], so one should eliminate and reinforce[攻補] to balance it out. The sore and ulcer surgery[瘡瘍外科] part is mostly based on detoxifying[解毒] and resolving[消散]. Although the meridians were mentioned, they were not emphasized, while moxibustion treatment of sores and ulcers[瘡瘍] were thoroughly analyzed. Also, of all 550 formulas in this book, 90% are experience-based which frequently use Geum-eunhwa(金銀花), Pogong-yeong(蒲公英) and Jahwajijeong(紫花地丁). The usages are unique, and the formulas have good adaptability. The symptoms of the diseases are explained first, followed by according main and sub treatments.

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Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans

  • Kwak, Soo Heon;Kim, Yoon Ji;Chae, Jeesoo;Lee, Cue Hyunkyu;Han, Buhm;Kim, Jong-Il;Jung, Hye Seung;Cho, Young Min;Park, Kyong Soo
    • Genomics & Informatics
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    • v.13 no.4
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    • pp.126-131
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    • 2015
  • Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA) genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The $HLA-DRB1^*04:05-HLA-DQB1^*04:01$ haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009). A histidine residue at $HLA-DR{\beta}1$ position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI, 1.01 to 5.94; p = 0.054). Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.

The Survey of Perception on Obstacles in Implementing Generic HACCP Plan for School Foodservice Operations (학교급식에 일반 HACCP 모델 적용시 장애요인에 대한 인지도)

  • Choe, Suk-Hui;Kim, Seong-Hui;Gwak, Dong-Gyeong
    • Journal of the Korean Dietetic Association
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    • v.9 no.3
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    • pp.209-218
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    • 2003
  • The purpose of this study was to identify obstacles by surveying dieticians' perception in implementing Generic HACCP Plan for school foodservice operations from 2001. The survey was conducted in five areas; Seoul, Kyoung-gi Province, In-cheon, Kwang-ju and Dae-jeon. Five hundred and sixty questionnaire were sent by the e-mail address and the local school dietician's Community Board on the internet, 263 were returned. Two hundred and forty were returned by E-mail, return rate was 42.86%. Twenty three were received by the local school dietician's Community Board on the internet. The obstacles were grouped of six fields and indicated thirteen factors in implementation of the Generic HACCP Plan for school foodservice. The six fields were 'status of cooperation within HACCP team', 'cooperation with the external people' such as teachers, food suppliers, student's parents, 'understanding HACCP system of the dieticians', 'hygiene facilities', 'training & educating employees', and 'difficulty of monitoring'. To assess the factor as a obstacle we used Likert's scale; 5-agree strongly, 4-agree, 3-medial, 2-don't agree, 1-don't agree strongly. Results of this study are as follows; 1) The scores of thirteen factors indicated as obstacles were over 3(medial) except ‘lack of dietician's understanding about HACCP System(2.86$\pm$0.97)'. Also only about 63% dieticians recognized that as an obstacle factor. 2) ‘Deficiency of hygiene facilities(4.41$\pm$0.76), ‘lack of teachers' cooperation(4.23$\pm$0.77)', ‘inadequacy of the kitchen lay-out(4.19$\pm$0.95)' and ‘lack of training and educating program for employees(3.97$\pm$0.85)' scored most highly. Results from this study show that financial resources and educating system are very important to settle down HACCP system for School Foodservices successfully.

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Zinc and Zinc Related Enzymes in Precancerous and Cancerous Tissue in the Colon of Dimethyl Hydrazine Treated Rats

  • Christudoss, Pamela;Selvakumar, R.;Pulimood, Anna B.;Fleming, Jude Joseph;Mathew, George
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.2
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    • pp.487-492
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    • 2012
  • Trace element zinc deficiency or excess is implicated in the development or progression of some cancers. The exact role of zinc in the etiology of colon cancer is unclear. To cast light on this question, an experimental model of colon carcinogenesis was applied here. Six week old rats were given sub cutaneous injections of DMH (30 mg/kg body weight) twice a week for three months and sacrificed after 4 months (precancer model) and 6 months (cancer model). Plasma zinc levels showed a significant decrease (p<0.05) at 4 months and a greater significant decrease at 6 months (p<0.01) as compared with controls. In the large intestine there was a significant decrease in tissue zinc levels (p<0.005) and in CuZnSOD, and alkaline phosphatase activity (p<0.05) in the pre-cancerous model and a greater significant decrease in tissue zinc (p<0.0001), and in CuZnSOD and alkaline phosphatase activity (p<0.001), in the carcinoma model. The tissue zinc levels showed a significant decrease in the small intestine and stomach (p<0.005) and in liver (p<0.05) in the cancer model. 87% of the rats in the precancer group and 92% rats in the cancer group showed histological evidence of precancerous lesions and carcinomas respectively in the colon mucosa. This study suggests that the decrease in plasma zinc, tissue zinc and activity of zinc related enzymes are associated with the development of preneoplastic lesions and these biochemical parameters further decrease with progression to carcinoma in the colon.

Protective Effects and Anti-oxidative Effects of Sipjeon-Daebo-Tang and Gami-Sipjeon-Daebo-Tang in C6 Glioma Cell (십전대보탕(十全大補湯) 및 가미십전대보탕(加味十全大補湯)의 항산화 효과 및 신경교세포주 보호 효과)

  • Lee, Sang-Yeong;Kim, Hyung-Woo;Kim, Gye-Yep;Choi, Chan-Hun;Yun, Yeo-Chung;Jeong, Hyun-Woo
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.23 no.6
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    • pp.1292-1298
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    • 2009
  • Sipjeon-Daebo-Tang (SDT) is indicated for deficiency syndrome of both gi and blood, marked by pale or sallow complexion, dizziness, lassitude, shortness of breath, dislike for talking, poor appetite, pale tongue with thin whitish fur, thready and weak pulse. Gami-Sipjeon-Daebo-Tang(GSDT) is composed of 10 herbs within SDT and Cervi Pantotrichum Cornu (CPC). CPC can noursh kidney-yang, promote the production of the essence and blood, strengthen tendons and bones. Recently SDT is known as anti-cancer drug. Especially CPC is reported to have anti-oxidative action. For these reasons, we investigated the protective effects on cell death induced by chemicals such as paraquat, hydrogen peroxide and anti-oxidative effects in C6 glioma cells. In our results, GSDT accelerated proliferation rates of C6 cells in vitro. In addition, protective effects on cell death induced by hydrogen peroxide and rotenone. In addition, SOD activities were increased by treatment with both SDT and GSDT. In conclusion, these results suggest the possibility of GSDT to protect brain cell or neuronal cell from damage induced by oxidative stress. And also suggest that related mechanisms are involved in SOD activities.

A Study on the "Diagnosis and Treatment of the Postpartum Syndromes[婦人産後脈證幷治]" in "Synopsis of Golden Chamber ("금궤요략.부인산후맥증병치제이십일(婦人産後脈證幷治第二十一)"에 대(對)한 연구(硏究))

  • Lee, Yun-Cheon;Koh, Seung-Wook;Park, Kum-Sook;Jeong, Heon-Young;Keum, Kyoung-Su
    • Journal of Korean Medical classics
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    • v.21 no.1
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    • pp.43-62
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    • 2008
  • After parturition, woman in childbed's health can grow worse. Because when woman in childbed gives birth, Genital organ can be damaged, and lost a lot of blood, and also consume a lot of physical strengths. So, after parturition, woman in childbed is easy to fall in disease if do not take care in health specially. So after parturition, woman in childbed should be careful in stress, sleep, food etc. This thesis described Postpartum Spasm[痙病], Oppressive Feeling and Dizziness[鬱冒], Constipation[便秘], Abdominal Pain[腹痛], Diarrhea[下利], Annoyance[煩亂] and Vomitting Sickness[嘔逆]. Postpartum Spasm[痙病]'s major symptom is rigided body. This disease corresponds to Tetanus in modem medicine, and bacterial infection is assumed for cause. By Oriental medicine, after parturition, when blood is lacking, if patient takes wind, this disease breaks out. Oppressive Feeling and Dizziness[鬱冒]'s major symptom is dizzy head and gloomy eye. After parturition, when blood is lacking, if patient sweats too much and take cold, this disease breaks out. After parturition, if patient consumes a lot of resins of human body, Constipation[使秘] breaks out. There are four causes to Abdominal pain[腹痛]. First, due to deficiency and cold treats by Danggwisaenggangyangyuktang(當歸牛薑羊肉湯). Second, due to stagnation of Gi(氣) treats by Jisiljakyaksan(枳實芍藥散). Third, due to blood stasis treats by Ha-eohyeoltang(下瘀血湯). Fourth, due to lochiorrhea treats by Daeseunggitang(大承氣湯). After parturition, Annoyance[煩亂] and Vomitting Sickness[嘔逆] due to fever of difficiency treat by Jukpidaehwan(竹皮大丸). After parturition, Febrile diarrhea[熱性下利] treats by Baekduonggagamchoagyotang(白頭翁加甘草阿膠湯). This disease is similar with present Bacillary Dysentery. After parturition, Exteroceptive disease due to taking wind treats by Yangdaltang. Due to wind and fever treats by Jukyeoptang(竹葉湯).

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