• Title/Summary/Keyword: Plasma diagnosis

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Determination of homogentisic acid in human plasma by GC-MS for diagnosis of alkaptonuria (GC-MS를 이용한 혈장 중 호모겐티식산의 분석;알캅톤뇨증의 진단)

  • Thapa, Maheshwor;Yu, Jundong;Lee, Wonjae;Islam, Fokhrul;Yoon, Hye-Ran
    • Analytical Science and Technology
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    • v.28 no.5
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    • pp.323-330
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    • 2015
  • Alkaptonuria, a rare inherited metabolic disease, is characterized by a lack of homogentisate dioxygenase and accumulation of homogentisic acid (HGA), leading to homogentisic aciduria, arthritis, and ochronosis. In this study, a rapid analytical method, without an expensive and tedious solid phase extraction step, was developed to quantify HGA in plasma using GC-MS. HGA-spiked pooled plasma samples were subjected to liquid-liquid extraction (LLE) with ethyl acetate, followed by trimethylsilyl derivatization (TMS) and GC-MS quantification using selected ion monitoring. The formation of TMS derivative of the 1 carboxylic and 2 hydroxyl functional groups was performed by reacting BSTFA (with 10% TMCS) for 5 min at 80 ℃. For selected ion monitoring, quantification and confirmation ions were determined based on specific ions (m/z 384, m/z 341 and m/z 252) of the TMS derivative of HGA. Calibration curves of pooled normal plasma specimens showed a linear relationship in the range of 1-100 ng/µL. The precision and accuracy were within a relative standard deviation (RSD) of 1 to 15% and a bias of -5 to 25%. Recoveries were obtained in the range of 99-125% and 95-115% for intra-day and inter-day assay, respectively, at 2, 20 and 80 ng/µL. The limit of detection (LOD) and limit of quantification (LOQ) were 0.4 ng/µL and 4 ng/µL, respectively. No homogentisic acid was excreted from normal Korean plasma samples. Collectively, the results from the present study suggest that this method could be useful for routine diagnosis and therapeutic monitoring of alkaptonuria patients with excellent sensitivity and rapidity.

System Integration for the Operation of Unmanned Audio Center based on AoIP

  • Lee, Jaeho;Hamacher, Alaric;Kwon, Soonchul;Lee, Seunghyun
    • International journal of advanced smart convergence
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    • v.6 no.2
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    • pp.1-8
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    • 2017
  • Recently, the development of the information communication industry has made many changes in the industrial acoustic industry. Especially, it has a great influence on the change of system and equipment of acoustic system. Analog equipment is changing to digital equipment, and integrated control equipment makes it easier to operate and manage the sound system. However, the integrated control system currently on the market is only controllable for some devices. In this paper, we propose a new AoIP - based system configuration method, which enables the operation status monitoring, unmanned operation and self - diagnosis of equipment. As a result of the study, it is confirmed that the proposed system can be operated, monitored, and self - diagnosed at remote sites. It is expected that an AoIP- based sound system will be the industry standard in the future.

Fine Needle Aspiration Cytologic Findings of Gastric Inflammatory Myofibroblastic Tumor- A case report - (위에 발생한 염증성 근섬유모세포성 종양의 세침흡인 세포학적 소견 -1 예 보고-)

  • Lee, Ji-Hye;Shin, Bong-Kyung;Kim, Chung-Yeul;Cho, Seong-Jin;Kim, Han-Kyeom;Kim, In-Sun
    • The Korean Journal of Cytopathology
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    • v.12 no.2
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    • pp.117-120
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    • 2001
  • Inflammatory myofibroblastic tumor, histologically characterized by the presence of bland-locking spindle cells and infiltration of chronic inflammatory cells, is extremely rare in the gastric wall. We report a case of gastric inflammatory myofibroblastic tumor In a 27-month-old boy. The fine needle aspiration biopsy from the mass showed loose clusters or scattered spindle cells and inflammatory cells, predominantly of lymphocytes and plasma cells. The spindle cells resembled fibroblasts or myofibroblasts. Differential diagnosis from benign and malignant diseases involving abdominal cavity was discussed.

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A Case of Extramedullary Plasmacytoma of the Sinonasal Cavity (Extramedullary Plasmacytoma of the Sinonasal Cavity 1예)

  • Lim, Sang-Chul;Shin, Myung-Seok
    • Korean Journal of Head & Neck Oncology
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    • v.22 no.2
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    • pp.167-170
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    • 2006
  • Extramedullary plasmacytoma is rare tumor of plasma cell tumor, which involve soft tissue without any signs of systemic spread and occurs predominantly in the head and neck, especially the nasal cavity and the paranasal sinuses. Ten to twenty percent of extramedullary plasmacytoma have regional lymph metastasis at the time of diagnosis and approximately one third of patients with extramedullary plasmacytoma will subsequently develop multiple myeloma during long-term follow-up. Primary treatment modality is moderate-dose radiation and surgery is rarely used. Extramedullary plasmacytoma has good prognosis, but requires long-term systemic evaluation and follow-up. We report a case of extramedullary plasmacytoma of the sinonasal cavity with a review of literature.

Occurrence of Hairless Piglets with Congenital Goiter (선천성 갑상선종에 의한 무모 돼지 발생)

  • Kim, Jae-hoon;Sohn, Hyun-joo;Kim, Hyoung-ook;Jean, Young-hwa
    • Korean Journal of Veterinary Research
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    • v.43 no.3
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    • pp.457-461
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    • 2003
  • A diagnosis of iodine-deficient goiter was confirmed in newborn piglets that were born hairless edematous, and with markedly enlarged thyroid gland. Clinically, most of the piglets were born dead, extreme weakness or dying within a few hours of birth. Gestation periods were prolonged for 3-7 days. Histopathologically, hair follicles were scarce and reduced in size, contained slender hairs, and revealed a shallow penetration into the hypodermis that showed severe diffuse edema. Thyroid glands had severely hyperplastic follicles and poorly staining colloid. The follicles were irregular in size and shape depending on varying amounts of lightly eosinophilic and granular colloid in the lumen. The iodine content of the diet fed to the sows and plasma total thyroxine and triiodothyronine concentration of sows were very low. This is a first report for iodine-deficient goiter in newborn piglets in Korea.

Licorice-induced Hypokalemic Myopathy (감초 유발성 저칼륨혈성 근병증)

  • Park, Kyung-Seok;Chung, Jae-Myun;Joo, Mee;Lim, Kyung Ho;Lee, Kwang-Woo
    • Annals of Clinical Neurophysiology
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    • v.3 no.1
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    • pp.50-52
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    • 2001
  • Licorice is widely used as a Chinese(herbal) medicine. The glycyrrhizin, a main ingredient of the natural licorice, has a potent mineralocorticoid effect which may cause severe hypokalemia and muscle paralysis. We present a 60-year-old woman, who had been ingesting one or two spoonful of licorice powder daily for about one year, developed acute flaccid quadriparesis with high levels of serum muscle enzymes and the typical features of mineralocorticoid excess such as severe hypokalemia and metabolic alkalosis. Both plasma renin activity and serum aldosterone level were below the normal values. This case indicates that licorice-induced hypokalemic myopathy should be considered in the differential diagnosis of a patient with acute quadriparesis and hypokalemia.

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Clinical and Echocardiographic Findings for Dilated Cardiomyopathy Induced by Taurine Deficiency in a Cat

  • An, Su-Jin;Jang, Hyo-Mi;Lee, Hee-Chun;Jung, Dong-In
    • Journal of Veterinary Clinics
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    • v.33 no.4
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    • pp.205-209
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    • 2016
  • A 6-year-old male domestic shorthair cat was referred to Gyeongsang National University Animal Medical Center for labored breathing. According to the patient's history, the client had fed him commercial dog foods. The patient's hematological, radiographic, and echocardiographic examinations were evaluated for diagnosis. Echocardiography results showed marked dilations of ventricles and atriums and mitral regurgitation. A systolic dysfunction was detected. Plasma taurine concentration was lower than the reference range. Based on these results, the patient was diagnosed with feline dilated cardiomyopathy associated with taurine deficiency. Treatment included feline commercial foods, taurine, digoxin, furosemide, and clopidogrel. Digoxin was changed to pimobendan when normal blood pressure was achieved. Clinical signs improved gradually and no abnormalities were detected on echocardiograms at 10 weeks following onset of treatment.

Isolated Tricuspid Regurgitation: Initial Manifestation of Cardiac Amyloidosis

  • Yoon, Dong Woog;Park, Byung-Jo;Kim, In Sook;Jeong, Dong Seop
    • Journal of Chest Surgery
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    • v.48 no.6
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    • pp.422-425
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    • 2015
  • Amyloid deposits in the heart are not exceptional in systemic amyloidosis. The clinical manifestations of cardiac amyloidosis may include restrictive cardiomyopathy, characterized by progressive diastolic and eventually systolic biventricular dysfunction; arrhythmia; and conduction defects. To the best of our knowledge, no previous cases of isolated tricuspid regurgitation as the initial manifestation of cardiac amyloidosis have been reported. We describe a rare case of cardiac amyloidosis that initially presented with severe tricuspid regurgitation in a 42-year-old woman who was successfully treated with tricuspid valve replacement. Unusual surgical findings prompted additional evaluation that established a diagnosis of plasma cell myeloma.

Simultaneous Determination of Plasma Lactate, Pyruvate, and Ketone Bodies following tert-Butyldimethylsilyl Derivatization using GC-MS-SIM

  • Yoon, Hye-Ran
    • Biomedical Science Letters
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    • v.21 no.4
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    • pp.241-247
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    • 2015
  • Lactate and ketone bodies are considered biological markers for ketosis and several inherited metabolic disorders. In the current study, the specific ratios of lactate and ketone bodies as analytical tools for differential diagnosis of various lactic acidosis were devised. The study included a protein precipitation step following tert-butyldimethylsilyl derivatisation. Total run time was approximately 30 min including sample preparation and GS/MS analysis. The limits of detection were below 0.1 pg/mL over the targeted 4 analytes. The calibration curve was linear over the concentration range of $0.001{\sim}250{\mu}g/mL$ for pyruvate, beta-hydroxybutyrate, and acetoacetate ($R^2$ > 0.99). Inter-day accuracy and precision were 87.7~94.8% with RSD of 2.5~5.7% at 2 levels. Absolute recoveries (%) of target analytes were 87.0~98.4%. The method was validated for the quantification of lactate and ketone bodies for differentiation of lactic acidosis.

Advantages of the single nucleotide polymorphism-based noninvasive prenatal test

  • Kim, Kunwoo
    • Journal of Genetic Medicine
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    • v.12 no.2
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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.