• Title/Summary/Keyword: Plasma diagnosis

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Occurrence of multiple myeloma in the head and neck: a report of two cases

  • Nam, Ki-Uk;Ahn, Jaemyung;Hong, Jongrak
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.39 no.3
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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.

Clinical Aspect of MicroRNA in Lung Cancer

  • Jeong, Hye Cheol
    • Tuberculosis and Respiratory Diseases
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    • v.77 no.2
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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.

Epidemiological studies on the respiratory cryptosporidiosis of broiler in Korea (국내 육계의 호흡기형 크립토스포리디움증에 대한 역학적 조사연구)

  • Oh, Myeong-ho;Eun, Gil-soo;Kim, Hong-jup;Chung, Uoon-ik
    • Korean Journal of Veterinary Research
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    • v.33 no.4
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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.

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An Update on Hypertriglyceridemia-Induced Acute Pancreatitis (고중성지방혈증 급성췌장염의 최신 지견)

  • Kim, Hong Ja
    • The Korean Journal of Medicine
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    • v.93 no.6
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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.

Renal replacement therapy in neonates with an inborn error of metabolism

  • Cho, Heeyeon
    • Clinical and Experimental Pediatrics
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    • v.62 no.2
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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.

β-ureidopropionase Deficiency

  • Jun Hwa Lee
    • Journal of Interdisciplinary Genomics
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    • v.5 no.1
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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.

OVERVIEW OF KSTAR INTEGRATED CONTROL SYSTEM

  • Park, Mi-Kyung;Kim, Kuk-Hee;Lee, Tae-Gu;Kim, Myung-Kyu;Hong, Jae-Sic;Baek, Sul-Hee;Lee, Sang-Il;Park, Jin-Seop;Chu, Yong;Kim, Young-Ok;Hahn, Sang-Hee;Oh, Yeong-Kook;Bak, Joo-Shik
    • Nuclear Engineering and Technology
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    • v.40 no.6
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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.

Changes of the Plasma Atrial Natriuretic Peptide during Myocardial Infarction in Rats (흰쥐 심근경색 모델에서 혈장 Atrial Natriuretic Peptide의 변화)

  • Ahn, Dong-Choon;Kim, In-Shik
    • Journal of Veterinary Clinics
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    • v.29 no.2
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    • pp.148-153
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    • 2012
  • Atrial natriuretic peptide (ANP) is associated with the variety of disorders of myocardial function. The effect, however, of myocardial infarction (MI) on ANP has not been fully described. Thus, this study investigated the effect of experimental MI, induced by left coronary artery ligation, on ANP secretion. Male Sprague-Dawley rats aged 60 d underwent ligation of the left anterior descending coronary artery to induce MI and were compared with a group that underwent a sham operation. Rats of sham operation had a similar procedure without having the suture tightened around the coronary artery. Animals were sacrificed at 1, 3, 6, 12, and 18 h or 1, 3, 5, 7, 14, and 30 d after the procedure. MI size was assessed by planimetry and perimetry, and plasma ANP levels were determined by radioimmunoassay. Mean infarct size was 39.6-44.5% of the left ventricle after coronary occlusion in experimental groups. No significant differences were observed in infarct size among groups. In contrast, the concentration of plasma ANP was significantly higher at 1, 3, 6, 12, 18, and 24 h after left coronary artery ligation than in sham animals. This parameter, however, did not differ significantly at 3, 5, 7, 14, and 30 d after ligation compared with sham-ligated controls. These results demonstrate that plasma ANP levels are markedly increased in the early phase of MI in the male rat and can be a useful biomarker for diagnosis in acute MI.

Angioimmunoblastic T-Cell Lymphoma with Polyclonal Proliferation of Plasma Cells: A Cautionary Note for Flow Cytometry Interpretations (유세포 분석의 주의사항: 혈관면역모세포성 T세포 림프종에서 관찰된 다클론성 형질세포)

  • Shin, Woo Yong;Bang, Hae In;Kim, Jung-Ah;Kim, Jieun;Park, Rojin
    • Korean Journal of Clinical Laboratory Science
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    • v.54 no.1
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    • pp.68-72
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    • 2022
  • Angioimmunoblastic T-cell lymphoma (AITL) is a lymphoproliferative disorder of mature T follicular helper cells. Atypical lymphoid cells were observed in the bone marrow of an 80-year-old woman, and the flow cytometric determined immunophenotypes of B-cells were unusual, that is, CD19+, CD20-, and CD22- with lambda light chain restriction. Initially, we suspected BM involvement of B-cell lymphoma based on the presence of abnormal B-cells. However, the patient was diagnosed with AITL involving BM. A re-analysis of flow cytometric immunophenotyping revealed a minor, aberrant T-cell population, and the lambda light chain restriction observed by surface staining was considered non-specific binding. This case demonstrates B-cells in patients with EBV-positive T-cell lymphoma may exhibit immunophenotypes resembling those of plasma cells, and that proliferation of abnormal B-cells or plasma cells could also potentially mask underlying T-cell lymphoma. A more integrated approach is required for accurate diagnosis.

A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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