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A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis (당원병과 뮤코다당체침착증이 동시에 발견된 증례 1예)

  • Lee, Ju Young;Shim, Jeong Ok;Yang, Hye Ran;Chang, Ju Young;Shin, Choong Ho;Ko, Jae Sung;Seo, Jeong Kee;Kim, Woo Sun;Kang, Gyeong Hoon;Song, Jeong Han;Kim, Jong Won
    • Clinical and Experimental Pediatrics
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    • v.51 no.6
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    • pp.650-654
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    • 2008
  • Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

Immunohistochemical Analysis for the Expression of DR5 TRAIL Receptor and p53 in Non-small Cell Lung Cancer (비소세포폐암에서 DR5 TRAIL 수용체와 p53에 관한 면역조직화학적 분석)

  • Lee, Kye-Young;Lee, Jung-Hyun;Kim, Sun-Jong;Yoo, Kwang-Ha
    • Tuberculosis and Respiratory Diseases
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    • v.64 no.4
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    • pp.278-284
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    • 2008
  • Background: TRAIL is a promising anticancer agent which induces selective tumor cell death due to a unique receptor system that includes death receptors and decoy receptors. DR5 TRAIL receptor is an originally identified p53-regulated death receptor gene that was induced, by doxorubicine, only in cells with a wild-type p53 status. We investigated that focused on the correlation between the DR5 and p53 expressions in non-small cell lung cancer (NSCLC). Methods: Immunohistochemical analysis, with using avidin-biotinylated horseradish peroxidase complex, was carried out in 89 surgically resected NSCLC formalin-fixed paraffin-embedded tissue sections. As primary antibodies, we used anti-DR5 polyclonal antibody and anti-p53 monoclonal antibody. A negative control was processed with each slide. The positive tumor cells were quantified twice and these values were expressed as percentage of the total number of tumor cells, and the intensity of immunostaining was expressed. The analysis of the DR5 expression was done separately in tumor area and in a nearby region of normal tissue. Results: The DR5 expression was high in the bronchial epithelium (89% of cases) but this was almost absent in type I & II pneumocytes, lymphocytes and smooth muscle cells. High DR5 expression rate in tumor was seen in 28% (15/53) of squamous cell carcinomas, in 47% (15/32) of adenocarcinomas and, in 50% (2/4) of large cell carcinomas. The DR5 expression did not show any statistical significance relationship with the T stage, N stage, or survival. However, the DR5 expression showed significant inverse correlation with the p53 expression. (p< 0.01). Conclusion: We demonstrated that the DR5 expression in NSCLC via immunohistochemical analysis is relatively tumor-specific except for that in the normal bronchial epithelium and it is significantly dependent on the p53 status. This might be in vivo evidence for the significance of the DR5 gene as a p53 downstream gene.

The Results of Combined Modality Treatment with Transurethral Resection, Cisplatin and Radiation Therapy for Invasive Bladder Cancer (침윤성 방광암에서 경요도적절제술 및 Cisplatin과 방사선의 병용치료의 효과)

  • Oh, Yoon-Kyeong
    • Radiation Oncology Journal
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    • v.9 no.2
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    • pp.311-317
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    • 1991
  • Ten patients with deep muscle-invading bladder carcinoma (clinical stages T3a to T4b) who were not candidates for cystectomy were treated with combined modality treatment with transurethral resection, cisplatin chemotherapy and pelvic irradiation from 1989 through 1990, and were analyzed retrospectively. All patients were not candidates for cystectomy because the tumors were judged unresectable or they were not fit for a radical cystectomy. Of the patients 5 had clinical stage T3a, 3 stage T3b and 2 stage T4b disease. The minimum follow-up was 16 months. The complete response rate is 60$\%$ for all patients. The complete responses were achieved in 4 of 5(80$\%$) with stage cT3a, in 2 of 3(67$\%$)with stage cT3b and in none of 2(0$\%$) with stage cT4b. The partial responses were achieved in 2, so an overall response rate was 80$\%$. All six patients with grade I or II transitional cell carcinoma showed complete responses. Four patients with higher grade tumors showed partial responses in 2 and no response in 2, and all died of their bladder cancer. Six patients who showed complete responses after treatment are alive and only one of them showed a local recurrence 10 months after treatment. Distant metastases developed in 3 patients: lungs in 2(cT4b) of those who were never locally free of disease and spine in 1 patient (cT3b) among those with a partial response. Two patients died of metastases to lungs. During the follow-up diarrhea occurred in one which was improved after conservative treatment. On the basis of this analysis it is suggested that combined modality treatment seems to be a tolerable regimen and can be offered with a relatively high probability of success and conservation of bladder function in those with less advanced tumors by clinical stage and low grade.

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The Effect of Ginkgo Biloba Extract on Hypoxic Fraction of C3H Mouse Fibrosarcoma (Ginkgo Biloba Extract가 C3H 마우스 섬유육종의 저산소세포 분획에 미치는 영향)

  • Cho Chul Koo;Yi Chun Ja;Ha Sung Whan;Park Charn Il
    • Radiation Oncology Journal
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    • v.13 no.3
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    • pp.205-214
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    • 1995
  • Purpose : To investigate the effect of Ginkgo biloba extract (GBE) on hypoxic cell fraction and metabolic status in fibrosarcoma (FSa II) of C3H mouse. Materials and Methods : Fibrosarcoma (FSa II) 6 mm in diameter, growing in the right hindleg muscle of C3H mouse was used for estimation of hypoxic cell fraction using comparison of $TCD_{50}$. Radiation was given one hour after administration of GBE (100 mg/kg. i.p.) with or without priming dose of GBE (100 mg/kg, i.p.) given 24 hours earlier. Radiation was also given under air breathing condition or clamp hypoxia without GBE as controls. $^{31}p$ NMR spectroscopy was performed before and one hour after administration of GBE with or without priming dose of GBE. Results : $TCD_{50/120's}$ were 81.7 (77.7-86.0) Gy when irradiated under clamped hypoxia 69.6 (66.8-72.5) Gy under air breathing condition. 67.5 (64.1-71.1) Gy with a single dose of GBE (100 mg/kg) given one hour before irradiation, and 62.2 (59.1-65.5) Gy with two doses of GBE given at 25 hours and one hour before irradiation. The hypoxic cell fractions, estimated from $TCD_{50/120's}$, were $10.6{\%}$ under air breathing condition, $7.2{\%}$ after a single dose of GBE, and $2.7{\%}$ after two doses of GBE. The results of $^{31}P$ NMR spectroscopy were as follow. PCr/Pi ratio was $0.27{\pm}0.04$ and $0.40{\pm}0.04$ before and one hour after a single dose of GBE (p<0.05), respectively, without priming dose and $0.30{\pm}0.02$ and $0.71{\pm}0.04$, respectively, with priming dose (p<0.01). These findings indicate that the metabolic status is slightly improved after a single dose and markedly after repeated administrations. Conclusion : GBE decreases the hypoxic cell fraction and imprvoes the meta bolic status of tumor, probably by increasing the blood flow and delivery of oxygen and nutrients, resulting in increased radiosensitivity of tumor.

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The Analysis of Quantitative EEG to the Left Cranial Cervical Ganglion Block in Beagle Dogs (비글견에서 좌측앞쪽목신경절 차단에 대한 정량적 뇌파 분석)

  • Park, Woo-Dae;Bae, Chun-Sik;Kim, Se-Eun;Lee, Soo-Han;Lee, Jung-Sun;Chang, Wha-Seok;Chung, Dai-Jung;Lee, Jae-Hoon;Kim, Hwi-Yool
    • Journal of Veterinary Clinics
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    • v.24 no.4
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    • pp.514-521
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    • 2007
  • The sympathetic nerve block improves the blood flow in the innervated regions. For this region, the sympathetic nerve block has been performed in the neural and cerebral disorders. However, the cerebral blood flow regulation of the cranial cervical ganglion block in dogs have not been well defined and the correlation to the changes in the cerebral circulation and the changes in the electroencephalogram is not well defined in dogs yet. Therefore, we investigated the hypothesis that changes in the EEG could be affected by the changes in cerebral blood flow following the cranial cervical ganglion block in dogs. Twenty five beagle dogs were divided into 3 groups; group I(LCCGB, n=10) underwent left sided cranial cervical ganglion block using the 1% lidocaine, group II(L, n=10) injected the 1% lidocaine into the right or left sided digastricus muscle, group III(N/SCCGB, n=5, served as control) underwent the left sided cranial cervical ganglion block using saline. A statistical difference was not found between the control group and the LCCGB group in the 95% spectral edge frequency(SEF) and the median frequency(MF). In the relative band power, the $\delta$ frequency was decreased during 5-25 min, while the $\alpha$ frequency was increased during the same time(p<0.05). But the $\theta$ frequency and the $\beta$ frequency were not shown the significant changes compared with the control group during the same time(p<0.05). These results suggest that the left cranial cervical ganglion block does not induce the change of the cerebral blood flow and its effect is insignificant.

The Comparative Analysis of Exposure Conditions between F/S and C/R System for an Ideal Image in Simple Abdomen (복부 단순촬영의 이상적 영상구현을 위한 F. S system과 C.R system의 촬영조건 비교분석)

  • Son, Sang-Hyuk;Song, Young-Geun;Kim, Je-Bong
    • Korean Journal of Digital Imaging in Medicine
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    • v.9 no.1
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    • pp.37-43
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    • 2007
  • 1. Purpose : This study is to present effective exposure conditions to acquire the best image of simple abdomen in Film Screen (F.S) system and Computed Radiography (C.R) system. 2. Method : In the F.S system, while an exposure condition was fixed as 70kVp, images of a patients simple abdomen were taken under the different mAs exposure conditions. Among these images, the best one was chosen by radiologists and radiological technologists. In the C.R system, the best image of the same patient was acquired with the same method from the F.S system. Both characteristic curves from F.S system and C.R system were analyzed. 3. Results : In the F.S system, the best exposure condition of simple abdomen was 70kVp and 20mAs. In the CR system, with the fixed condition at 70kVp, the image densities of human organs, such as liver, kidney, spleen, psoas muscle, lumbar spine body and iliac crest, were almost same despite different environments (3.2mAs, 8mAs, 12mAs, 16mAs and 20mAs). However, when the exposure conditions were over or under (below) 12mAs, the images between the abdominal wall and the directly exposed part became blurred because the gap of density was decreased. In the C.R system, while the volume of mAs was decreased, an artifact of quantum mottle was increased. 4. Conclusion : This study shows that the exposure condition in the C.R system can be reduced 40% than in the F.S system. This paper concluded that when the exposure conditions are set in CR environment, after the analysis of equipment character, such as image processing system(EDR : Exposure Data Recognition processing), PACS and so on, the high quality of image with maximum information can be acquired with a minimum exposure dose.

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Mitral Valve Reconstruction in Mitral Insufficiency : Intermediate-Term Results (승모판 폐쇄부전증에서 승모판 재건술의 중기평가)

  • 김석기;김경화;김공수;조중구;신동근
    • Journal of Chest Surgery
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    • v.35 no.10
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    • pp.705-711
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    • 2002
  • The advantages of mitral valve reconstruction have been well established and so mitral valve reconstruction is now considered as the procedure of choice to correct mitral valve disease. This is the report of intermediate-term results of 38 cases that performed mitral valve reconstruction for valve insufficiency(the total number of mitral valve reconstruction were 49 cases, but 11 cases that performed mitral valve replacement due to incomplete reconstruction were excluded). Material and Method : From March 1991 to March 2001, 38 patients underwent mitral valve repair due to mitral valve regurgitation with or without stenosis. Mean age was 47.6$\pm$14.7 years(range 15 to 70 years) : 11 were men and 27 were women. The causes of mitral valve regurgitation were degenerative in 14, rheumatic in 21, infective in 2 and the other was congenital. Result : According to the Carpentier's pathologic classification of mitral valve regurgitation, 3 were type 1 , 16 were type II and 19 were type III. Surgical procedures were annuloplasty 15, commissurotomy 19, leaflet resection and annular plication 9, chordae shortening 11, chordae transfer 5, new chordae formation 2, papillary muscle splitting 2 and vegetectomy 2. These procedures were combined in most patients. There were 2 early death and the causes of death were respiratory failure, renal failure and sepsis. There was no late death. Valve replacement was done in 6 patients after repair due to valve insufficiency or stenosis 3 weeks, 1, 3, 51, 69, 84months later respectively. These patients have been followed up from 1 to 116 months(mean 43.0 months). The mean functional class(NYHA) was 2.36 pre-operatively and improved to 1.70. Conclusion : In most cases of mitral valve regurgitation, mitral valve reconstruction when technically feasible is effective operation that can achieve stable functional results and low surgical and late mortality.

Genomic selection through single-step genomic best linear unbiased prediction improves the accuracy of evaluation in Hanwoo cattle

  • Park, Mi Na;Alam, Mahboob;Kim, Sidong;Park, Byoungho;Lee, Seung Hwan;Lee, Sung Soo
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.10
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    • pp.1544-1557
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    • 2020
  • Objective: Genomic selection (GS) is becoming popular in animals' genetic development. We, therefore, investigated the single-step genomic best linear unbiased prediction (ssGBLUP) as tool for GS, and compared its efficacy with the traditional pedigree BLUP (pedBLUP) method. Methods: A total of 9,952 males born between 1997 and 2018 under Hanwoo proven-bull selection program was studied. We analyzed body weight at 12 months and carcass weight (kg), backfat thickness, eye muscle area, and marbling score traits. About 7,387 bulls were genotyped using Illumina 50K BeadChip Arrays. Multiple-trait animal model analyses were performed using BLUPF90 software programs. Breeding value accuracy was calculated using two methods: i) Pearson's correlation of genomic estimated breeding value (GEBV) with EBV of all animals (rM1) and ii) correlation using inverse of coefficient matrix from the mixed-model equations (rM2). Then, we compared these accuracies by overall population, info-type (PHEN, phenotyped-only; GEN, genotyped-only; and PH+GEN, phenotyped and genotyped), and bull-types (YBULL, young male calves; CBULL, young candidate bulls; and PBULL, proven bulls). Results: The rM1 estimates in the study were between 0.90 and 0.96 among five traits. The rM1 estimates varied slightly by population and info-type, but noticeably by bull-type for traits. Generally average rM2 estimates were much smaller than rM1 (pedBLUP, 0.40 to0.44; ssGBLUP, 0.41 to 0.45) at population level. However, rM2 from both BLUP models varied noticeably across info-types and bull-types. The ssGBLUP estimates of rM2 in PHEN, GEN, and PH+ GEN ranged between 0.51 and 0.63, 0.66 and 0.70, and 0.68 and 0.73, respectively. In YBULL, CBULL, and PBULL, the rM2 estimates ranged between 0.54 and 0.57, 0.55 and 0.62, and 0.70 and 0.74, respectively. The pedBLUP based rM2 estimates were also relatively lower than ssGBLUP estimates. At the population level, we found an increase in accuracy by 2.0% to 4.5% among traits. Traits in PHEN were least influenced by ssGBLUP (0% to 2.0%), whereas the highest positive changes were in GEN (8.1% to 10.7%). PH+GEN also showed 6.5% to 8.5% increase in accuracy by ssGBLUP. However, the highest improvements were found in bull-types (YBULL, 21% to 35.7%; CBULL, 3.3% to 9.3%; PBULL, 2.8% to 6.1%). Conclusion: A noticeable improvement by ssGBLUP was observed in this study. Findings of differential responses to ssGBLUP by various bulls could assist in better selection decision making as well. We, therefore, suggest that ssGBLUP could be used for GS in Hanwoo proven-bull evaluation program.

A Study on the Expressed Desire at Discharge of Patients to Use Home Nursing and Affecting Factors of the Desire (퇴원환자의 가정간호 이용의사와 관련 요인)

  • Lee, Ji-Hyun;Lee, Young-Eun;Lee, Myung-Hwa;Sohn, Sue-Kyung
    • The Korean Journal of Rehabilitation Nursing
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    • v.2 no.2
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    • pp.257-270
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    • 1999
  • The purpose of this study is to investigate factors related to the intent of using home nursing of chronic disease patients who got out of a university hospital. For the purpose, the study selected 153 patients who were hospitalized and left K university hospital with diagnoses of cancer, hypertension, diabetes and cerebral vascular accident and ordered to be discharged and performed interviews with them and surveys on their medical records to obtain the following results. For this study a direct-interview survey and medical record review was conducted from June 28 to Aug. 30, 1998. The frequency and mean values were computed to find the characteristics of the study subjects, and $X^2$-test, t-test, factor analysis and multiple logistic regession analysis were applied for the analysis of the data. The following results were obtained. 1) When characteristics of the subjects were examined, men and women occupied for 58.8% and 41.2%, respectively. The subjects were 41.3 years old in aver age and had the monthly aver age earning of 0.99 million won or below, which was the most out of the total subjects at 34.6%. Among the total, 87.6% resided in cities and 12.4 in counties. The most left the hospital with diagnosis of cancer at 51.6%, followed by hyper tension at 24.2%, diabetes at 13.7% and cerebral vascular accident at 7.2%. 2) 93.5% of the selected patients had the intent of using home nursing and 6.5%, didn't. Among those patients having the intent, 85.6% had the intent of paying for home nursing and 14.4%, didn't. The subjects expected that the nursing would be paid 9,143 won in aver age and 47.7% of them preferred national authorities as the main servers. 86.3% of the subjects thought that home nursing business had the main advantage of making it possible to learn nursing methods at home and thereby contributing to improving the ability of patients and their facilities to solve health problems. 3) Relations between the intent of use and characteristics of the subjects such as demography-related social, home environment, disease and physical function characteristics did not show statistically significant differences among one another. Compared to those who had no intent of using home nursing, the group having the intent had more cases of male patients, the age of 39 or below, residence in cities, 5 family member s or more, no existence of home nursing servers, leaving the hospital from a non-hospitalized building, disease development for five months or below, hospitalization for ten days or more, non-hospitalization with in the recent one month, two times or over of hospitalization, leaving the hospital with no demand of special treatment, operation underwent, poor results of treatment, leaving the hospital with demand of rehabilitation services, physical disablement and high evaluation point of daily life. 4) Among those patients having the intent of using home nursing, 47.6% demanded technical nursing and 55.9%, supportive nursing. As technical nursing,' inject into a blood vessel ' and 'treat pustule and teach basic prevention methods occupied for 57.4%, respectively, topping the list. Among demands of supportive nursing, 'observe patients 'status and refer them to hospitals or community resources as available, if necessary' was the most with percent age point of 59.5. Regarding the intent of paying for home nursing, 39.2% of those patients wishing to use the nursing responded paying for technical services and 20.2, supportive services. In detail, 70.0% wanted to pay for a service stated as 'inject into a blood vessel', highest among the former services and 30.7%, a service referred to as 'teaching exercises needed to make the body of patients move', highest among the latter. When this was analyzed in terms of a relation between the need(the need for home nursing) and the demand(the intent of paying for home nursing), The rate of the need to the demand was found two or three times higher in technical nursing(0.82) than in supportive nursing(0.35). In aspects of tech ical nursing, muscle injection(1.26, the 1st rank) was highest in the rate while among aspects of supportive nursing, a service referred to as 'teach exercises needed for making patients move their bodies normally'(0.58, the 1st rank). 5) factors I(satisfaction with hospital services), II(recognition of disease state), III(economy) and IV(period of disease) occupied for 34.4, 13.8, 11.9 and 9.2 percents, respectively among factors related to the intent by the subjects of using home nursing, totaled 59.3%. In conclusion, most of chronic disease patients have the intent of using hospital-based home nursing and satisfaction with hospital services is a factor affecting the intent most. Thus a post-management system is needed to continue providing health management to those patients after they leave the hospital. Further, supportive services should be provided in order that those who are satisfied with hospital services return to their community and live their in dependent lives. Based on these results, the researcher would make the following recommendation. 1) Because home nursing becomes more and more needed due to a sharp increase in chronic disease patients and elderly people, related rules and regulations should be made and implemented. 2) Hospital nurses specializing in home nursing should be cultivated.

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