• Clinical and Experimental Pediatrics
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• 제50권11호
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• pp.1129-1133
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• 2007

골화석증은 뼈파괴세포의 기능의 이상과 백혈구의 과산화물 생성 이상을 특징으로 하는 드문 골경화성 질환으로, 유전방법이나 발병나이, 증상, 증상의 정도 등에 따라 몇 가지 아형으로 분류된다. 악성형 골화석증의 궁극적 치료 방법은 조혈모세포이식이지만, 조직형 일치 공여자가 없는 경우나 비교적 양성인 만성형 골화석증에서는 스테로이드나 carcitriol, 인터페론 감마 등의 치료를 시도해 볼 수 있다. 특히 인터페론 감마 치료는 골흡수를 증가시키고, 조혈 기능과 백혈구 기능을 향상시킨다고 보고되고 있다. 본 저자들은 약 6년, 3년 동안 인터페론 감마 치료 후 각각 수혈, 골절과 같은 다른 합병증 없이 조절되고 있는 골화석증 2례에 대해 보고하는 바이다.

• 한국균학회소식:학술대회논문집
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• 한국균학회 2015년도 춘계학술대회 및 임시총회
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• pp.13-13
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• 2015

Rice blast fungus, Magnaporthe oryzae, is the most destructive pathogen of rice in the world. This fungus has a biotrophic phase early in infection and switches to a necrotrophic lifestyle after host cell death. During the biotrophic phase, the fungus competes with host for nutrients and oxygen. Continuous uptake of oxygen is essential for successful establishment of blast disease of this pathogen. Here, we report transcriptional responses of the fungus to oxygen limitation. Transcriptome analysis using RNA-Seq identified 1,047 up-regulated genes in response to hypoxia. Those genes were involved in mycelial development, sterol biosynthesis, and metal ion transport based on hierarchical GO terms and well-conserved among three different fungal species. In addition, null mutants of three hypoxia-responsive genes were generated and tested for their roles on fungal development and pathogenicity. The mutants for a sterol regulatory element-binding protein gene, MoSRE1, and C4 methyl sterol oxidase gene, ERG25, exhibited increased sensitivity to hypoxia-mimetic agent, increased conidiation, and delayed invasive growth within host cells, suggesting important roles in fungal development. However, such defects did not cause any significant decrease in disease severity. The other null mutant for alcohol dehydrogenase gene, MoADH1, showed no defect in the hypoxia-mimic condition and fungal development. Taken together, this comprehensive transcriptional profiling in response to a hypoxia condition with experimental validations would provide new insights on fungal development and pathogenicity in plant pathogenic fungi.

• Archives of Reconstructive Microsurgery
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• 제10권2호
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• pp.137-142
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• 2001

This study evaluated the results of reconstructions of thumb web space in the patients with adduction contracture of thumb. Between February 1990 and April 2000, 28 patients with thumb web space adduction contracture were treated with various reconstruction methods. We divided the patients according to the severity; mild$(41^{\circ}{\sim}80^{\circ})$, moderate$(21^{\circ}{\sim}40^{\circ})$, severe$(20^{\circ}less)$ contracture. The number of patients with mild contracture was 5, moderate; 12, severe; 11. We performed Z-plasty in 15, free flap in 8, local flap in 3, abdominal flap in 1 and scar release only in 1 case. The mean follow-up period was 5.7 years, ranged from 1.5 to 11.2 years. The results of web reconstruction were evaulated by thumb web space angle. There were excellent in 9, good in 16, fair in 3 cases. Z-plasty was performed in the 5 cases with mild contracture, and all the results were excellent. Especially, free flap was performed in the 6 cases with severe contracture, and all the results were good or excellent. in the reconstruction of thumb web space contracture, we recommend Z-plasty for a mild contracture, and free flap for large soft tissue defect created by release of a severe contracture.

• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.597-601
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• 2003

저자들은 저출생 체중과 호흡 곤란을 주소로 출생 직후 이송 된 여아에서, 진찰상 안면과 골격계 기형 소견 보여 말초 혈액에서 시행한 염색체 핵형 검사에서 trisomy 9, low level mosaic type으로 진단되었던 1례를 경험하였기에 보고하는 바이다.

• 대한두개안면성형외과학회지
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• 제10권1호
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• pp.23-28
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• 2009

Purpose: Blow out fracture can present tenderness, swelling, enophthalmos, extraoccular muscle limitation, paresthesia, diplopia according to severity of injury, so reconstruction of blow out fracture is important. Orbital soft tissue should be in orbit and defected orbital wall should be corrected by autologus tissue or alloplastic implants. Every implants have their merits and faults, every implants are used various. This study was designed to compare the sequelae of blow-out fracture repair using the alloplastic implants: micro-titanium mesh(Micro Dynamic titanium $mesh^{(R)}$, Leibinger, Germany), porous polyethylene ($Medpor^{(R)}$, Porex, USA), absorbable mesh plate(Biosorb $FX^{(R)}$ . Bionx Implants Ltd, Finland). Methods: Between January 2006 and April 2008, 52 patients were included in a retrospective study analysing the outcome of corrected inferior orbital wall fracture with various kind of implants. Implants were inserted through subciliary incision. Twenty patients were operated with micro-titanium mesh, fourteen patients with porous polyethylene and eighteen patients with absorbable mesh plate. In comparative category, enophthalmos, diplopia, range of motion of extraoccular muscle, inferior orbital nerve injury were more on frequently statistically in patients. Results: Fourteen of 18 patients underwent surgical repair to improve diplopia, 11 of 17 patients to improve parasthesia, 11 of 15 patients to improve enophthalmos, 8 of 9 patients to improve extraoccular muscle limitation. Duration of follow-up time ranged from 6 months to 12 months(mean, 7.4 months). There was no statistic difference of sequelae between micro titanium mesh and porous polyethylene and absorbable mesh plate in blowout fracture, inferior wall. Conclusion: There is no difference of sequelae between micro-titanium mesh, porous polyethylene and absorbable mesh plate in blow-out fracture, inferior wall. The other factors such as defect size, location, surgeon's technique, may influence the outcome of blow-out fracture repair.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.22-26
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• 2014

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain ${\alpha}$-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain ${\alpha}$-keto acids and branched-chain ${\alpha}$-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

• Molecules and Cells
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• 제41권3호
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• pp.198-206
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• 2018

Aortic dissection (AD) is a catastrophic disease with high mortality and morbidity, characterized with fragmentation of elastin and loss of smooth muscle cells. Although AD has been largely attributable to polymorphisms defect in the elastin-coding gene, tropoelastin (TE), other undermined factors also appear to play roles in AD onset. Here, we investigated the effects of post-transcriptional control of TE by microRNAs (miRNAs) on elastin levels in aortic smooth muscle cells (ASMC). We found that miR-144-3p is a miRNA that targets TE mRNA in both human and mouse. Bioinformatics analyses and dual luciferase reporter assay showed that miR-144-3p inhibited protein translation of TE, through binding to the 3'-UTR of the TE mRNA. Interestingly, higher miR-144-3p levels and lower TE were detected in the ASMC obtained from AD patients, compared to those from non-AD controls. In a mouse model for human AD, infusion of adeno-associated viruses (serotype 6) carrying antisense for miR-144-3p (asmiR-144-3p) under CAG promoter significantly reduced the incidence and severity of AD, seemingly through enhancement of TE levels in ASMC. Thus, our data suggest an essential role of miR-144-3p on the pathogenesis of AD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제3권1호
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• pp.89-92
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• 2000

위 염전증은 소아에서 드믈지만 응급을 요하는 질환으로 최근 비사출성, 비담즙성 구토를 주소로 내원한 3세 환아에서 치험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Tuberculosis and Respiratory Diseases
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• 제66권1호
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• pp.47-51
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• 2009

간폐증후군은 간질환이 있는 환자에서 저산소증이 유발되는 상태로 폐내 혈관 확장으로 인해 폐내 동맥혈 산소공급에 결함이 발생하는 질환이다. 현재까지 간이식 외에 간폐증후군에 대한 다른 효과적인 치료법은 없는 것으로 알려져 있다. 국내에서는 간폐증후군의 증례 보고가 드물고, 특히 Child-Pugh 분류 A군에서의 발생 빈도는 낮은 것으로 보인다. 이에 저자들은 Child-Pugh 분류 A군인 대상성 간경화 환자에서 발생한 간폐증후군 1예를 경험하여 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제61권6호
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• pp.200-204
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• 2018

Atopic dermatitis (AD) is a chronic inflammatory skin disease in children. Patients with AD experience a high rate of colonization of the skin surface by Staphylococcus aureus. Because of a skin barrier defect, there is a potential risk of staphylococcal invasive infection in patients with AD. Here, we present 2 cases of breast abscess caused by S. aureus in 2 adolescent girls with severe AD. Methicillin-sensitive S. aureus was identified from the breast abscess material. They were treated with appropriate antibiotics, however surgical drainage of the abscess was needed in case 1. Identical strains were found from the breast abscess material as well as the lesional and the nonlesional skin of the patients through matrix-assisted laser desorption/ionization time-of-flight analysis. We characterized the differential abundance of Firmicutes phylum in patients' skin in microbiota analysis. In particular, S. aureus, a member of Firmicutes, differed significantly between the lesional and the normal-appearing skin. Our cases demonstrate the potential severity of bacterial deep tissue infection in AD and the dysbiosis of skin microbiota may be involved in inflammation in AD.