• Tuberculosis and Respiratory Diseases
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• 제51권2호
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• pp.155-160
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• 2001

한냉글로불린혈증에 의한 급성호흡곤란증후군은 극히 드문 것으로 보고되었다. 저자 등은 B형 간염을 가진 환자에서, 한냉글로불린혈증과 그에 인한 급성호흡곤란 증후군이 발생한 1예를 경험하였기에 보고하는 바이다.

• BMB Reports
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• 제50권9호
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• pp.460-465
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• 2017

Polycystic kidney disease (PKD) is one of the most common inherited disorders, involving progressive cyst formation in the kidney that leads to renal failure. FK506 binding protein 12 (FK506BP) is an immunophilin protein that performs multiple functions, including regulation of cell signaling pathways and survival. In this study, we determined the roles of PEP-1-FK506BP on cell proliferation and cyst formation in PKD cells. Purified PEP-1-FK506BP transduced into PKD cells markedly inhibited cell proliferation. Also, PEP-1-FK506BP drastically inhibited the expression levels of p-Akt, p-p70S6K, p-mTOR, and p-ERK in PKD cells. In a 3D-culture system, PEP-1-FK506BP significantly reduced cyst formation. Furthermore, the combined effects of rapamycin and PEP-1-FK506BP on cyst formation were markedly higher than the effects of individual treatments. These results suggest that PEP-1-FK506BP delayed cyst formation and could be a new therapeutic strategy for renal cyst formation in PKD.

• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6491-6496
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• 2012

Background: The influence of parental socio-economic status on childhood cancer treatment outcome in low-income countries has not been sufficiently investigated. Our study examined this influence and explored parental experiences during cancer treatment of their children in an Indonesian academic hospital. Materials and Methods: Medical charts of 145 children diagnosed with cancer between 1999 and 2009 were reviewed retrospectively. From October 2011 until January 2012, 40 caretakers were interviewed using semi-structured questionnaires. Results: Of all patients, 48% abandoned treatment, 34% experienced death, 9% had progressive/relapsed disease, and 9% overall event-free survival. Prosperous patients had better treatment outcome than poor patients (P<0.0001). Odds-ratio for treatment abandonment was 3.3 (95%CI: 1.4-8.1, p=0.006) for poor versus prosperous patients. Parents often believed that their child's health was beyond doctor control and determined by luck, fate or God (55%). Causes of cancer were thought to be destiny (35%) or God's punishment (23%). Alternative treatment could (18%) or might (50%) cure cancer. Most parents (95%) would like more information about cancer and treatment. More contact with doctors was desired (98%). Income decreased during treatment (55%). Parents lost employment (48% fathers, 10% mothers), most of whom stated this loss was caused by their child's cancer (84% fathers, 100% mothers). Loss of income led to financial difficulties (63%) and debts (55%). Conclusions: Treatment abandonment was most important reason for treatment failure. Treatment outcome was determined by parental socio-economic status. Childhood cancer survival could improve if financial constraints and provision of information and guidance are better addressed.

• Clinical and Experimental Pediatrics
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• 제57권1호
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• pp.50-53
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• 2014

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC ($p.Pro22Argfs^*2$) and c.1090_1091delCT ($p.Leu364Glufs^*93$). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.15-23
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• 2006

Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

• 대한방사선기술학회지:방사선기술과학
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• 제38권4호
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• pp.389-394
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• 2015

의료영상 검사는 정보기술 및 의료장비의 발달로 인체의 해부학적 구조를 묘사하는 능력이 날로 발전하고 있다. 그러나 상지회전이 필요한 어깨관절 의료영상 검사에서는 인체구조의 복잡성으로 정확한 자세유지가 의료영상의 진단적 가치에 매우 중요하다. 자기공명검사의 경우 긴 검사시간과 고정된 자세가 필요해 검사자의 노력과 환자의 의지만으로 재현성 있는 검사가 불가능하다. 이에 상지회전과 정량적 각도가 가능한 보조기구를 개발하여 진단적 가치가있는 의료영상 검사를 하고자하였다. 본 연구는 선행 연구의 결과를 바탕으로 보조기구를 제작하였으며, 공학용 프로그램인 CATIA 프로그램으로 3차원 모델링을 설계하여, 3D프린터로 최종 완성된 보조기구를 제작하였다. 사용된 3D 프린터는 Stratasys Objet350 Connex 모델이며, 재질은 광경화성 수지를 사용하였다. 완성된 보조기구의 크기는 $120{\times}150{\times}190mm$이며, 손잡이부의 내경은 125.9 mm 로 디자인되었다. 보조기구는 총 4개의 부품으로 바디부(외부), 손잡이부(내부), 고정단자, 연결부로 구성되었으며 바디부와 손잡이부는 원활한 회전이 가능하도록 2.1 mm의 유격이 유지되도록 하였다. 손잡이부에는 360o 눈금선을 표시하여 환자마다 관찰에 필요한 회전각도를 기록할 수 있도록 하여 추적검사나 양쪽검사에 적용할 수 있도록 하였다.

• 대한수의학회지
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• 제39권2호
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• pp.247-256
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• 1999

A disease of young Holstein calves characterized by recurrent pneumonia, ulcerative and granulomatous stomatitis, enteritis with bacterial overgrowth, periodontitis, delayed wound healing, persistent neutrophilia and death at an early age had been originally described in 1983 and again in 1987. Most of these calves had stunted growth and a persistent, progressive neutrophilia (often exceeding 100,000/ml). By investigation of pedigrees, all of the affected calves have now been traced to a common sire and confirmed by polymerase chain reaction (PCR) diagnostic DNA testing to be homozygous carriers of a defective allele for bovine CD18. Neutrophils from these calves have several functional deficits and, most importantly, fail to adhere in a ${\beta}_2$-integrin dependent manner. The ${\beta}_2$-integrins represent a family of glycoproteins which participate in various leukocyte adhesion reactions during host defense. The presence or absence of ${\beta}_2$-integrin molecules can be demonstrated on the surface of neutrophils, monocytes and lymphocytes from normal or affected calves using specific monoclonal antibodies and flow cytometry, or by colloidal gold immunolabeling and scanning electron microscopy in backscatter mode. Deficiency of the ${\beta}_2$-integrins on all leukocyte types in Holstein calves is analogous to leukocyte adhesion deficiency (LAD) seen in humans. Neutrophils in bovine (BLAD) and human LAD patients are unable to adhere to the endothelial lining of the cardiovascular system thus interrupting egression of neutrophils into infected tissues. Other leukocytes, while still deficient in expression of the ${\beta}_2$-integrins, are still able to efficiently egress from the blood stream due to interactions of other adhesion molecules that are not as highly expressed on neutrophils. Both BLAD cattle and LAD children (who do not receive bone marrow transplants) often die at an early age as a result of the failure of neutrophils to extravasate into infected tissues. In 1991, Shuster, et $al^{27}$, identified two point mutations within the alleles encoding bovine CD18 in a Holstein calf afflicted with leukocyte adhesion deficiency. One mutation causes an aspartic acid to glycine substitution at amino acid 128 (D128G) in an extracellular region of this adhesion glycoprotein that is highly conserved (> 95% identity) between humans, cattle and mice. The other mutation is silent. Numerous calves with clinical symptoms of leukocyte adhesion deficiency have since been tested and all have been found homozygous for the D128G allele. In addition, calves homozygous far the D128G allele have been identified during widespread DNA testing in the United States. All cattle with the mutant allele are related to one bull, who through artificial insemination (A.I.), sired many calves in the 1950's and 1960's. The carrier frequency of the D128G CD18 allele among U.S. Holstein cattle had reached approximately 15% among active A.I. bulls and 8% among cows. By 1993, the organization of the dairy industry and the diagnostic test developed to genotype cattle, enabled virtually complete eradication of bovine leukocyte adhesion deficiency among current and future A.I. bulls.

• Tuberculosis and Respiratory Diseases
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• 제57권1호
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• pp.66-71
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• 2004

저자들은 임신중기에 대량객혈로 내원하여 안정, 산소공급, 폐혈관확장제, 치료적 유산 그리고 항응고제 사용 등으로 치료하였으나 결국 우심부전으로 사망한 원발성 폐고혈압 환자 1예를 경험하였다. 본 증례는 폐관류 및 환기스캔, 폐혈관조영술 등의 검사와 사망후 부검은 시행하지 못하였으나 현재까지의 검사결과에 의거 시 임신 중 대량객혈로 발현된 일차성 폐고혈압으로 사료되어, 이에 문헌고찰과 함께 보고하는 바이다.

• Tuberculosis and Respiratory Diseases
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• 제43권2호
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• pp.274-279
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• 1996

폐정맥 폐쇄성 폐고혈입증은 드문 질환이기는 하나 폐부종이 동반된 폐고혈압증에서 반드시 의심해야 하며 폐생검을 통해 확진할 수 있고, 폐조직 검사상 폐동맥의 침범이 있다해도 이질환의 가능성을 배제할 수 없다. 저자들은 폐부종을 동반한 폐고혈압증에서 심도자 검사상 폐동맥쐐기압이 정상이고 다른 심장 질환이 없는 것올 확인한 후 폐조직 생검으로 진단된 폐정맥 폐쇄에 의한 폐고혈압증을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 터널과지하공간
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• 제26권3호
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• pp.235-252
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• 2016

본 연구에서는 다각형 입자 기반 개별요소모델을 이용하여 실험실 스케일에서 등방성, 횡등방성 암석의 거동과 점진적 파괴 과정을 모델링할 수 있는 시뮬레이션 기법을 구축하였다. 가압에 따른 미세균열의 개시와 성장 과정을 모니터링할 수 있는 기법을 제안하였으며, 이를 통해 전단균열과 인장균열의 개시와 성장이 암석의 점진적 파괴 과정에 미치는 영향을 살펴보았다. 다각형 입자기반 개별요소모델의 거동 및 미세균열의 발생 양상은 실험실에서 관찰되는 암석의 일반적인 특징과 상당 부분 일치하는 것으로 나타났으며, 이를 통해 상기 모델이 암석의 역학적 거동을 합리적인 수준에서 재현할 수 있음을 확인하였다. 다각형 입자기반 개별요소모델에 대한 기초연구로서 접촉면의 미시변수와 시료의 거시물성 간의 상관관계를 살펴보았으며, 미시변수를 조정함으로써 다양한 암석의 강도와 변형 특성을 재현하였다. 한편, 상기 모델을 횡등방성 암석을 모사하기 위한 방법론을 제시하였으며, 이를 국내 횡등방성 암석인 아산편마암에 적용하여 근소한 오차 범위 내에서 실내시험 결과를 재현하였다.