• Journal of Genetic Medicine
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• 제12권2호
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• pp.66-71
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• 2015

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.

• 대한세포병리학회지
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• 제10권2호
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• pp.145-149
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• 1999

Cytologic features of inflammatory pseudotumor of the lung have not been described frequently. We report fine needle aspiration cytologic(FNAC) finding of a case of inflammatory pseudotumor misdiagnosed as adenocarcinoma in a 63-year-old man. The FNAC displayed a mixture of histiocytes, myofibroblasts, pneumocytes, and plasma cells. Some histiocytes and myofibroblasts had large nuclei with irregular nuclear membrane and prominent nucleoli, which mislead the diagnosis on adenocarcinoma on FNAC. The heterogeneous cell population is the unique cytologic features of inflammatory pseudotumor, which are helpful to distinguish it from other circumscribed benign and malignant lesions. Familiarity with these features is essential to avoid misdiagnosis and possible overtreatment.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제39권3호
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• pp.139-143
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• 2013

Multiple myeloma (MM) is a disease reported to account for 1% of all cancers and 10% of hematological malignant diseases. Unlike other malignant diseases that are transferred to the osseous tissues, MM does not show new bone formation, is associated with characteristic osteolytic lesions, and shows monoclonal protein (M-protein) on the immunohematological test, which is an important index in its diagnosis. Solitary lesions of MM are rare in the head and neck area, and, in most cases, MM of the head and neck area is related to systemic sympomts.

• Tuberculosis and Respiratory Diseases
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• 제77권2호
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• pp.60-64
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• 2014

MicroRNAs (miRNAs) are a class of small noncoding RNAs that modulate target gene activity, and are aberrantly expressed in most types of cancer as well in lung cancer. A miRNA can potentially target a diverse set of mRNAs; further, it plays a critical role in lung tumorigenesis as well as affects patient outcome. Previous studies focused mainly on abnormal miRNAs expressions in lung cancer tissues. Interestingly, circulating miRNAs were identified in human plasma and serum in 2008. Since then, considerable effort has been directed to the study of circulating miRNAs as one of the biomarkers of lung cancer. miRNAs expression of tissues and blood in lung cancer patients is being analyzed by more researchers. Recently, to overcome the high false-positivity of low-dose chest computed tomography scan, miRNAs in lung cancer screening are being investigated. This article summarizes the recent researches regarding clinical applications of miRNAs in the diagnosis and management of lung cancer.

• 대한수의학회지
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• 제33권4호
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• pp.693-699
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• 1993

In 1990, a retrospective examination of histologic data determined that 23 histology accessions at the Miwon Institute of Animal Science had a diagnosis of crytosporidiosis. These cases presented 10% of the 230 histologic examinations of broiler chicks of 23 cases, 18 cases were respiratory infection and 5 cases were bursal infection. The histologic findings of respiratory cryptosporidiosis were hyperplasia of mucosa epithelial cell, slightly swelling of epithelial cells, deciliation of tracheal epithelium, distribution of cryptosporidium organisms in epithelial surface of trachea and infiltration of plasma cells and lymphocytes in mucosa propria layer in trachea.

• The Korean Journal of Medicine
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• 제93권6호
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• pp.518-524
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• 2018

Hypertriglyceridemia a major cause of acute pancreatitis, accounting for up to 10% of all cases. The pathophysiological mechanism of hypertriglyceridemia-induced acute pancreatitis (HTGP) is presumed to involve the hydrolysis of triglycerides by pancreatic lipase resulting in an excess of free fatty acids and elevated chylomicrons, which are thought to increase plasma viscosity and induce ischemia and inflammation in pancreatic tissue. Although the clinical course of HTGP is similar to other forms of acute pancreatitis, the clinical severity and associated complications are significantly higher in patients with HTGP. Therefore, an accurate diagnosis is essential for treatment and prevention of disease recurrence. At present, there are no approved guidelines for the management of HTGP. Different treatment modalities such as apheresis/plasmapheresis, insulin, heparin, fibric acids, and omega-3 fatty acids have been successfully implemented to reduce serum triglycerides. Following acute phase management, lifestyle modifications including dietary adjustments and drug therapy are important for the long-term management of HTGP and the prevention of relapse. Additional studies are required to produce generalized and efficient treatment guidelines for HTGP.

• Clinical and Experimental Pediatrics
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• 제62권2호
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• pp.43-47
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• 2019

Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism. High levels of ammonia are extremely neurotoxic, leading to astrocyte swelling, brain edema, coma, severe disability, and even death. Thus, emergency treatment for hyperammonemia must be initiated before a precise diagnosis is established. In neonates with hyperammonemia caused by an inborn error of metabolism, a few studies have suggested that peritoneal dialysis, intermittent hemodialysis, and continuous renal replacement therapy (RRT) are effective modalities for decreasing the plasma level of ammonia. In this review, we discuss the current literature related to the use of RRT for treating neonates with hyperammonemia caused by an inborn error of metabolism, including optimal prescriptions, prognosis, and outcomes. We also review the literature on new technologies and instrumentation for RRT in neonates.

• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Nuclear Engineering and Technology
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• 제40권6호
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• pp.451-458
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• 2008

After more than 10 years construction, KSTAR (Korea Superconducting Tokamak Advanced Research) had finally completed its assembly in June 2007, and then achieved the goal of first-plasma in July 2008 through the four month's commissioning. KSTAR was constructed with fully superconducting magnets with material of $Nb_3Sn$ and NbTi, and their operation temperatures are maintained below 4.5K by the help of Helium Refrigerator System. During the first-plasma operation, plasmas of maximum current of 133kA and maximum pulse width of 865ms were obtained. The KSTAR Integrated Control System (KICS) has successfully fulfilled its missions of surveillance, device operation, machine protection interlock, and data acquisition and management. These and more were all KSTAR commissioning requirements. For reliable and safe operation of KSTAR, 17 local control systems were developed. Those systems must be integrated into the logically single control system, and operate regardless of their platforms and location installed. In order to meet these requirements, KICS was developed as a network-based distributed system and adopted a new framework, named as EPICS (Experimental Physics and Industrial Control System). Also, KICS has some features in KSTAR operation. It performs not only 24 hour continuous plant operation, but the shot-based real-time feedback control by exchanging the initiatives of operation between a central controller and a plasma control system in accordance with the operation sequence. For the diagnosis and analysis of plasma, 11 types of diagnostic system were implemented in KSTAR, and the acquired data from them were archived using MDSpius (Model Driven System), which is widely used in data management of fusion control systems. This paper will cover the design and implementation of the KSTAR integrated control system and the data management and visualization systems. Commissioning results will be introduced in brief.

• 한국임상수의학회지
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• 제29권2호
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• pp.148-153
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• 2012

Atrial natriuretic peptide (ANP)은 여러 가지 다양한 심근질환과 연관성이 있는 것으로 알려져 있으나 심근경색에서 ANP의 변화에 대해서는 명확하게 밝혀져 있지 않다. 따라서 본 연구에서는 흰쥐 심근경색 모델을 활용하여 혈장내 ANP의 변화를 살펴보아 심근경색에서 ANP의 역할을 규명해보고자 하였다. 수컷 흰쥐 60일령에서 왼심장동맥을 결찰 하여 심근경색 모델을 만들었고 개흉하여 sham 대조군을 삼았다. 각각의 실험군과 대조군을 수술 후 1, 3, 6, 12, 18시간과 1, 3, 5, 7, 14 및 30일에 희생시켜 실험에 사용하였다. 심근경색의 크기는 planimetry와 perimetry법을 적용하여 측정하였고 혈장내 ANP 농도는 방사면역측정법을 적용하여 측정하였다. 왼심장동맥을 결찰한 실험군에서 평균 심근경색의 크기는 왼심실의 39.6-44.5%이었고 유의성 있는 차이는 없었다. 혈장내 ANP 농도는 심근경색 후 1, 3, 6, 12, 18 및 24시간에 대조군에 비하여 명확하게 증가하였으나 3, 5, 7, 14 및 30일령에서 ANP 농도는 대조군에 비하여 유의성 있는 차이를 나타내지 않았다. 이러한 결과는 수컷 흰쥐에서 혈장내 ANP 농도는 심근경색 초기에 명확하게 증가함을 입증하였고 급성심근경색의 진단을 위한 생체표지인자로 이용할 수 있는 가능성을 제시해주고 있다.