• Journal of Genetic Medicine
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• 제16권2호
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• pp.67-70
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• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• Journal of Periodontal and Implant Science
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• 제29권3호
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• pp.507-519
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• 1999

The ultimate objective of periodontal treatment is to stop disease progression and to regenerate destroyed periodontal tissues and thereby regain normal function. Growth factors are naturally found polypetides which stimulate many cellular activities pertaining to wound healing by acting as signal molecule in controlling cell movement, proliferation, and matrix production. Platelet derived growth factor (PDGF) is 28,000-35,000 Da molecular weight dimeric protein with 2 long positively charged polypeptide chains connected by sulfide bonds. The purpose of this study is to evaluate histologically the initial guided tissue regeneration in a periodontal defect f a beagle dog treated with a biodegradable membrane formed with polylactic acid (poly-L-lactic acid) and polyglycolic acid loaded with 200ng/$cm^2$ platelet derived growth factor. 2 beagle dogs were used in he experiment. $5mm{\times}6mm$ alveolar bone defect was formed in upper and lower canines and third premolars and a reference notch was placed. PDGF-BB non-containing membrane was used as control. Each defect was randomly assigned to the test roup or the control group. The dogs were sacrificed 3 weeks after membrane placement. Toluidine blue and multiple staining was done for histological analysis. In the 3 week specimen in the control group, no new one formation could be seen. Small amount f bone resorption below the notch could be seen. In the notch, loose connective tissue with infiltration of inflammatory cells could be seen. Also thin discontinuous new cementum could be seen and the membrane still retained its structure. Where PDGF-BB containing membrane was used, new bone formation could be seen in the notch at weeks and also continuous thin cementum could be seen. PDL cells were observed between new bone and new cementum and some were attached to bone and cementum. These results suggest that new bone and cementum formation seen when PDGF-BB loaded membrane was used was due to inhibition of downgrowth of epithelial cells and also due to continuous release of the growth factor. Further study on the resorption characteristics of the membrane nd the release characteristics of the PDGF-BB is necessary. Also, development of a membrane easier to use clinically is necessary.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제32권5호
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• pp.396-405
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• 2010

Purpose: This study was performed to find out the effects of the Er:YAG laser (Key Laser) & Er,Cr:YSGG laser (Water Laser) on inflammatory tissues. Materials and Methods: It was performed on about 20 g, 6 weeks male ICR mouses. They were grouped into the control (negative), the inflammation induced 'control'(positive), Er,Cr:YSGG laser exposured group after inducing inflammation, Er:YAG lasere exposured group after inducing inflammation each 15 mouses. The mouses were applicated 0.5% DNFB 1 cc on ear skin twice a day for 4 days until symptom expression. After laser exposure, ear tissues were extracted and defined gene expression by RT-PCR. Then, tissue staining, lymphocytes observation, electromicroscophic laboratory were carried out. Results: Interleukin-$1{\beta}$ was expressed much less in the A-laser exposed group. Interleukin-$1{\beta}$ & Tumor Necrosis Factor-${\alpha}$ were expressed 7 times lesser in the A-laser exposed group. The number of Lymphocytes related to inflammation was decreased rapidly in the A-laser exposed group in vivo. he number of cavity recovered normal was a little bigger in the A-laser exposed group after 5 days Conclusion: The expression of IL-$1{\beta}$ & TNF-${\alpha}$, hitologic change, observation with electron microscope shows that Erbium laser exposure causes lesser inflammation with A-laser rather than B-laser.

• Tuberculosis and Respiratory Diseases
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• 제53권5호
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• pp.569-576
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• 2002

연구배경 : C pneumoniae는 상하기도 감염을 일으키는 주요균으로, 균의 임상검체로부터의 분리는 균이 가진 몇가지 특성으로 매우 어려운 것으로 보고되었다. 최근 연구자들은 급성 인두염으로 내원한 22세 여자환자에서 채취한 비인두 스왑으로부터 국내 최초로 C pneumoniae를 분리, 배양하는데 성공하였다. 방 법 : Hep-2 세포주를 24시간 배양한 뒤, 환자로부터 얻은 비인두 스왑 검체를 넣어, 900g에서 한시간 동안 원심분리한 뒤, 72시간 동안 배양하였다. 본 환자의 검체는 8대째 계대배양에서 처음으로 봉입체가 관찰되었고, 이를 통정하기 위해 종특이 직접면역형광 검사와 종특이 PCR을 시행하였다. 그 밖에 전자현미경 소견도 관찰하였다. 결 과 : 종특이 면역형광염색과 PCR은 모두 C. pneumoniae에 합당한 소견을 보여, 본 분리 균주가 C. pneumoniae임을 알 수 있었다. 전자현미경 소견은 서양의 표준 균주가 배모양입에 비해, 일본 균주과 유사한 원형을 나타내었다. 결 론 : 국내 최초로 연구자들은 22세 여자 급성인두염 환자로부터, C. pneumoniae 분리에 성공하였다. 형태학적으로 일본 균주와 같은 원형임은 서양의 보고와는 다르다. 향후 본 균주는 국내 C. pneumoniae 다양한 연구에 활용될 수 있을 것이다.

• The Korean Journal of Physiology and Pharmacology
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• 제22권6호
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• pp.607-616
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• 2018

The effect of melatonin on juveniles with cardio fibrosis is poorly understood. We investigated whether HDACs participate in the anti-fibrotic processes regulated by melatonin during hypertrophic remodeling. Abdominal aortic constriction (AAC) was employed in juvenile rats resulting in pressure overload-induced ventricular hypertrophy and melatonin was subsequently decreased via continuous light exposure for 5 weeks after surgery. AAC rats displayed an increased cross-sectional area of myocardial fibers and significantly elevated collagen deposition compared to sham-operated rats, as measured by HE and Masson Trichrome staining. Continuous light exposure following surgery exacerbated the increase in the cross-sectional area of myocardial fibers. The expression of HDAC1, HDAC2, HDAC3, HDAC4 and HDAC6 genes were all significantly enhanced in AAC rats with light exposure relative to the other rats. Moreover, the protein level of $TNF-{\alpha}$ was also upregulated in the AAC light exposure groups when compared with the sham. However, Smad4 protein expression was unchanged in the juveniles' hearts. In contrast, beginning 5 weeks after the operation, the AAC rats were treated with melatonin (10 mg/kg, intraperitoneal injection every evening) or vehicle 4 weeks, and sham rats were given vehicle. The changes in the histological measures of cardio fibrosis and the gene expressions of HDAC1, HDAC2, HDAC3, HDAC4 and HDAC6 were attenuated by melatonin administration. The results reveal that melatonin plays a role in the development of cardio fibrosis and the expression of HDAC1, HDAC2, HDAC3, HDAC4 and HDAC6 in cardiomyocytes.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제26권4호
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• pp.363-368
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• 2000

불화나트륨의 전신적인 투여가 백서골의 기계적, 조직학적인 특성에 미치는 영향을 알아보고자 0, 1, 5 및 50ppm의 불소를 6주간 투여한 다음 백서 대퇴골을 채취하여 대퇴골 전체의 압축 강도, 대퇴골 경부의 전단 강도를 만능압축시험기로 측정하고 대퇴골 횡단면 조직 슬라이드를 제작하여 피질골 및 골수강의 두께와 면적을 광학현미경과 image analyzer 등으로 측정한 결과는 다음과 같다. 1. 실험 6주간 불소 투여에 의한 백서 체중에 있어서 각 군간에 통계적으로 유의한 차이는 나타나지 않았다. 2. 6주간의 불소 투여시 대퇴골 전체의 압축강도는 대조군에 비해 1 및 5ppm 투여군에서 증가하다가 50ppm 투여군에서는 오히려 현저하게 감소하였다. 3. 대퇴골 경부의 전단 강도역시 대조군에 비해 1 및 5ppm군에서는 증가되다가 50ppm군에서는 감소되었으나 통계적으로 유의한 차이는 나타나지 않았다. 4. 피질골의 두께와 면적 역시 대조군에 비해 5ppm 투여군까지는 증가하다가 50ppm 투여군에서는 현저히 감소되었다. 5. 골수강의 두께와 면적은 대조군에 비해 불소투여군 모두에서 통계적으로 유의하게 증가되었다. 이상의 결과로 미루어 볼 때 상수도수불소화에 사용되는 1ppm의 불소 농도에서는 백서 대퇴골의 기계적인 압축강도가 증진되고 조직형태학적으로도 피질골의 두께가 증가됨으로 인하여 동일한 하중에서도 골의 파절에 대한 저항 능력을 향상시킬 수 있음을 확인하였다.

• Tuberculosis and Respiratory Diseases
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• 제57권3호
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• pp.278-283
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• 2004

원발성 폐평활근육종은 아주 드문 종양으로 대부분 전이된 예로 나타난다. 저자들은 좌폐상엽과 하엽에 연하여 발생한 종괴와 좌심방과 좌심실에 전이된 소견을 보이는 종괴를 관찰후 진단적 개흉술을 통한 조직검사로 진단하고 전이여부에 대한 검사를 시행한 결과 현저한 파골세포 모양의 거대세포로 구성된 원발성 폐평활근육종의 심장내 전이로 진단된 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Molecules and Cells
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• 제38권3호
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• pp.221-228
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• 2015

Because Schwann cells perform the triple tasks of myelination, axon guidance and neurotrophin synthesis, they are candidates for cell transplantation that might cure some types of nervous-system degenerative diseases or injuries. However, Schwann cells are difficult to obtain. As another option, ectomesenchymal stem cells (EMSCs) can be easily harvested from the nasal respiratory mucosa. Whether fibrin, an important transplantation vehicle, can improve the differentiation of EMSCs into Schwann-like cells (SLCs) deserves further research. EMSCs were isolated from rat nasal respiratory mucosa and were purified using anti-CD133 magnetic cell sorting. The purified cells strongly expressed HNK-1, nestin, $p75^{NTR}$, S-100, and vimentin. Using nuclear staining, the MTT assay and Western blotting analysis of the expression of cell-cycle markers, the proliferation rate of EMSCs on a fibrin matrix was found to be significantly higher than that of cells grown on a plastic surface but insignificantly lower than that of cells grown on fibronectin. Additionally, the EMSCs grown on the fibrin matrix expressed myelination-related molecules, including myelin basic protein (MBP), 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNPase) and galactocerebrosides (GalCer), more strongly than did those grown on fibronectin or a plastic surface. Furthermore, the EMSCs grown on the fibrin matrix synthesized more neurotrophins compared with those grown on fibronectin or a plastic surface. The expression level of integrin in EMSCs grown on fibrin was similar to that of cells grown on fibronectin but was higher than that of cells grown on a plastic surface. These results demonstrated that fibrin not only promoted EMSC proliferation but also the differentiation of EMSCs into the SLCs. Our findings suggested that fibrin has great promise as a cell transplantation vehicle for the treatment of some types of nervous system diseases or injuries.

• 생명과학회지
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• 제19권10호
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• pp.1444-1450
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• 2009

본 연구를 통해 BALB/c 마우스에서 quercetin의 경구투여가 PCL로 유도된 접촉성 피부 알레르기의 예방에 미치는 효과에 대해 알아보았다. Quercetin을 투여 농도에 따라 대조군(0 mg/kg), 저용량군(50 mg/kg), 고용량군(100 mg/kg)으로 나누고 8일에 걸쳐 총 8번 경구투여를 실시한 후 알레르기 유발물질인 PCL을 마우스의 양쪽 귀에 감작시켜 접촉성 피부 알레르기를 유발 시켰다. Quercetin의 투여 농도별 ear swelling 변화를 확인한 결과 quercetin을 투여하지 않은 대조군에 비해 quercetin을 투여한 군의 ear swelling 증가폭이 낮게 나타났고, 100 mg/kg (고용량군)에서 농도 유의적으로 ear swelling의 증가폭이 현저히 낮게 나타났다. Quercetin의 투여 농도에 따른 혈청 내 염증성 매개 물질의 농도 변화를 알아보기 위한 IgE 및 histamine level 측정 결과에서 quercetin을 투여하지 않은 대조군에 비해 quercetin을 투여한 50 mg/kg (저용량군), 100 mg/kg (고용량군)에서 낮은 수준의 IgE, histamine 수치가 나왔다. H&E염색과 Toluidine blue stain을 통한 조직병리학적 검사결과에서 quercetin을 투여한 고용량군의 귀 두께가 대조군에 비해 얇게 관찰되었고, 비만세포의 유무를 알아보기 위한 Toluidine blue stain의 결과 대조군에 비해 고용량군에서 적은 수의 비만세포들이 관찰되었다. 따라서 ear swelling과 IgE, histamine level, 조직병리학적 결과를 종합해 봤을 때 식물성 flavonoid 성분인 quercetin은 접촉성 피부 알레르기의 예방에 상당한 효과가 있다고 판단되며, 부작용이 발생하는 기존의 치료제를 대체할 수 있는 후보 물질로써 중요한 가치가 있다고 사료된다.

• 농촌의학ㆍ지역보건
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• 제16권1호
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• pp.61-69
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• 1991

Serodiagnosis of Clonorchis sinensis infections will probably be a first choice tool for screening of clonorchiasis in a future because of increasing difficulties in collection and examination of stools. The sensitive test such as ELISA can he used effectively. However there are some limitations in serological diagnosis for the detection of serum antibody. One of the major problems is the non-specificity of the antigens which produce cross reaction with other helminthic infection sera. To solve this problem. many investigators have tried to purify the antigens used. In this study, we determined the antigenic profile of the crude saline extract antigen of C. sinensis at early developmental stage based on SDS-PAGE and immunoblotting techniques for the purpose of understanding the nature of C. sinensis worm antigen The following results were obtained : 1) The SDS-PAGE showed many protein hands ranging from 10Kd to 91Kd relative molecular weight. Among them, 66, 46, 40, 33, 27, 24, 16, 14 and 10Kd bands were observed as a principle bands. The protein components of C. sinensis changed chronologically during their early developmental period. 44Kd band was stained unclearly in antigen of 2 weeks worm, but changed to concentrated state in antigen of 5 weeks worm. 35Kd band was found in antigen of 2 weeks worm, however this band was disappeared in antigen of 5 weeks worm. 22Kd band also lost its staining property gradually. 2) In spite of differences in antigenic profile, there was no differences in the data obtained by microplate ELISA using each antigen preparation. Absorbance value began to rise in between 2 to 3 weeks after infection. 3) By EITB. serum antibody recognized major protein bands with molecular weight of 91, 85, 63, 46, 40, 33, 24, 14 and 10Kd hand respectively. Among them 66, 33, 17 and 14Kd bands were observed as non-specific band because they reacted even in normal control sera. Generally, gradual increase of positive reactions were observed as the infection period of C. sinensis was prolonged. In other hand, the reaction of 10Kd hand did not occurred when 26th week sera was tested. 4) The positive reactions using antigens of 2 weeks worm, especially on 40 and 24Kd bands, were most strong and sharply demarcated compared to those of 3~5 weeks worm antigen.