• Proceedings of the PSK Conference
• /
• 2003.10b
• /
• pp.214.4-215
• /
• 2003

In galactose metabolic pathway : there are three inborn metabolic disorders galactokinase deficiency (galactosemia type II), galactose-1-phosphate uridyl transferase(GALT) daficiency (galactosemia type I ), uridine diphosphate galactose-4-epimerase deficiency (galactosemia typeIII). Among these disorders GALT deficiency is the most severe and common. Infants with GALT deficiency fail to metabolize galactose-1-phosphate. As a consequence, galactose-1-phosphate and galactose are accumulated in blood in which GALS enzyme plays the role of a pathognomonic marker. (omitted)

• The Sea:JOURNAL OF THE KOREAN SOCIETY OF OCEANOGRAPHY
• /
• v.12 no.3
• /
• pp.225-233
• /
• 2007

To verify which loop regions of 18S rRNA gene are suitable as species-specific genetic markers in ciliates, we analyzed the genetic variation of 18S rRNA gene among 9 Euplotes species (Hypotrichia : Ciliophora). In our result, no inter-specific variation was detected from V1, V3 and V5 regions, and the length of V7 and V8 are 44 bp and 79 bp, respectively, which are too short to make genetic marker. In contrast, V2 and V4 may be good candidate segments of species-specific diagnostic molecular markers because these two regions are most variable ($1.75{\sim}20.61%$) and showed good inter-specific phylogeny. Furthermore, the sequences of V2 and V4 are 123 bp and 306 bp, respectively in length which are enough to make species-specific marker.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.2
• /
• pp.65-71
• /
• 2015

Since the secretion of specific chiral isomers in urine (or plasma) is very crucial to diagnose some inborn metabolic disorders, clinical application of dual column achiral differential method has been performed for the absolute configuration of chiral compounds. Extracted from the acidified urine with diethyl ether, carboxylic functional group of organic acid (stereoisomers of the volatile) was derivatized with (-)-menthylation or (S)-(+)-3-methyl-2-butylation and followed by O-trifluoroacylation. Each of the enantiomers was accurately separated from the library matched double column (achiral) with a retention index (I). In various inborn metabolic disease urines, absolute chirality was identified correctly in the urine (10 patients) with inborn metabolic disease (including secretion of D, L- lactic acid, D, L-3-hydroxybutyric acid, and D, L-2-hydroxyglutaric acid). In this study, we identified and isolated the volatile diastereomer as a useful diagnostic marker, this successful application to urine specimens may be useful for diagnostic classification of inherited metabolic disorders.

• Biomolecules & Therapeutics
• /
• v.21 no.1
• /
• pp.1-9
• /
• 2013

Polyamines, putrescine, spermidine and spermine, are ubiquitous in living cells and are essential for eukaryotic cell growth. These polycations interact with negatively charged molecules such as DNA, RNA, acidic proteins and phospholipids and modulate various cellular functions including macromolecular synthesis. Dysregulation of the polyamine pathway leads to pathological conditions including cancer, inflammation, stroke, renal failure and diabetes. Increase in polyamines and polyamine synthesis enzymes is often associated with tumor growth, and urinary and plasma contents of polyamines and their metabolites have been investigated as diagnostic markers for cancers. Of these, diacetylated derivatives of spermidine and spermine are elevated in the urine of cancer patients and present potential markers for early detection. Enhanced catabolism of cellular polyamines by polyamine oxidases (PAO), spermine oxidase (SMO) or acetylpolyamine oxidase (AcPAO), increases cellular oxidative stress and generates hydrogen peroxide and a reactive toxic metabolite, acrolein, which covalently incorporates into lysine residues of cellular proteins. Levels of protein-conjuagated acrolein (PC-Acro) and polyamine oxidizing enzymes were increased in the locus of brain infarction and in plasma in a mouse model of stroke and also in the plasma of stroke patients. When the combined measurements of PC-Acro, interleukin 6 (IL-6), and C-reactive protein (CRP) were evaluated, even silent brain infarction (SBI) was detected with high sensitivity and specificity. Considering that there are no reliable biochemical markers for early stage of stroke, PC-Acro and PAOs present promising markers. Thus the polyamine metabolites in plasma or urine provide useful tools in early diagnosis of cancer and stroke.

• Applied Microscopy
• /
• v.21 no.1
• /
• pp.46-62
• /
• 1991

The intermediate filament is one of the most important constituents of the intracytoplasmic cytoskeleton microtubule, actin, myosin and intermediate filament. It is composed of keratin, desmin, vimentin, neurofilament and glial filament, and has important role as a cellular marker, epithelial or mesenchymal origin. So it will be important to differentiated from some poorly or undifferentiated neoplasm to provide adequate therapeutic modalities. This study was performed by using immunohistochemical staining and electron microscopic observation to find out intermediate filaments of epithelial and non-epithelial tumor cells evaluate the degree of differentiation in tumors and therefore to provide some diagnostic and therapeutic modalities. The materials consisted of 83 epithelial and non-epithelial elements bearing 23 normal control, 28 epithelial tumors, and 32 non-epithelial tumors, that are resected for definite treatment at Chosun University Hospital from June, 1988 to June, 1990. Immunohistochemical stain for keratin, desmin and vimentin, and electron microscopic study were performed in all cases. The results obtained were as follows. 1. Immunohistochemical stain for intermediate filament were very useful diagnostic aid for differentiated epithelial tumor to non-epithelial tumor in diagnostic neoplasia. 2. In the electron microscopic finding, the size of intermediate filaments were possible differentiated to cell components of epithelial tumor and non-epithelial tumors.

• Bulletin of the Korean Chemical Society
• /
• v.35 no.1
• /
• pp.158-164
• /
• 2014

Substance P and neuropeptide Y were discovered as early diagnostic biomarkers of acute myocardial infarction in Korean patients and confirmed using enzyme-linked immunosorbent assay (ELISA). We screened 12 peptides from the sera of Korean acute myocardial infarction (AMI) patients and detected 3 peptides (neuropeptide Y, substance P, and N-terminal pro-B-type natriuretic peptide) to be elevated from patients' sera by liquid chromatography mass/mass spectrometry. The elevated concentration of 3 peptides was confirmed by ELISA. The screening results revealed the substance P, neuropeptide Y, and pro-B-type natriuretic peptide (47-76) concentrations were higher in patients' sera than in healthy controls. The sensitivity and specificity of substance P for AMI diagnostic marker were 80% and 83%, respectively, and those of neuropeptide Y were 87% and 90%, respectively compared to healthy controls. These results suggest that substance P and neuropeptide Y could be used as early diagnostic biomarkers in patients with AMI.

• Phonetics and Speech Sciences
• /
• v.14 no.2
• /
• pp.87-99
• /
• 2022

A review regarding indicators used in Korean research is needed to develop a diagnostic marker system for Korean children with speech sound disorders (SSD). This literature review examined the research conducted to reveal the characteristics of children with SSD of unknown origin in Korea. The researchers in Korea used diverse variables as indicators to identify the natures of children with SSD. These included indicators related to external characteristics of speech sound and comorbid features other than external aspects of speech sound. The attention has been focused on specific indicators so far. This result implies that some indicators may still require closer study in various aspects due to their influence, and some may require more attention due to the limited number of research. This article argues that more research is necessary to comprehensively describe the unique characteristics of children with SSD of unknown origin and suggests a direction for future research regarding diagnostic markers and subtype classification of SSD. It also proposes potential diagnostic markers and a set of assessments for the subtype classification of SSD.

• Asian Pacific Journal of Cancer Prevention
• /
• v.15 no.21
• /
• pp.9511-9515
• /
• 2014

Cholangiocarcinoma (CCA) is a cancer of the bile duct epithelial cells. The highest incidence rate of CCA with a poor prognosis and poor response to chemotherapy is found in Southeast Asian countries, especially in northeastern Thailand and Lao PDR. Cathepsin B is a lysosomal cysteine protease which is regulated by cysteine proteinase inhibitors such as cystatin C. Elevation of cathepsin B levels in biological fluid has been observed in patients with inflammatory diseases and many cancers. We aimed to investigate the serum cathepsin B and cystatin C levels of CCA patients to evaluate the feasibility of using cathepsin B and cystatin C as markers for the diagnosis of CCA. Fifty-six sera from CCA patients, 17 with benign biliary diseases (BBD) and 13 from controls were collected and the cathepsin B and cystatin C levels were determined. In addition, cathepsin B expression was investigated immunohistochemically for 9 matched-pairs of cancerous and adjacent tissues of CCA patients. Serum cathepsin B, but not cystatin C, was significantly higher in CCA and BBD patient groups compared to that in the control group. Consistently, all cancerous tissues strongly expressed cathepsin B while adjacent tissues were negative in 7 out of 9 cases. In contrast, serum cystatin C levels were comparable between CCA and control groups, although serum cystatin C levels in the BBD group was higher than that in the control or CCA groups. When the serum cathepsin B to cystatin C ratio was calculated, that of the CCA group was significantly higher than that of the control group, and, although statistically not significant, the ratio of CCA group showed a trend to be higher than that of the BBD group. Thus, the cathepsin B to cystatin C ratio might be used as an alternative marker for aiding diagnosis of CCA.

• Journal of Korean Neurosurgical Society
• /
• v.56 no.6
• /
• pp.463-468
• /
• 2014

Objective : Unexpected Solitaire stent detachment can occur during mechanical Solitaire thrombectomy. The purpose of this study was to retrospectively evaluate the influencing factors causing unexpected Solitaire stent detachment and the clinical outcomes. Methods : Between October 2011 to December 2013, 232 cases of mechanical Solitaire thrombectomy for acute ischemic stroke were performed in 3 stroke centers. During this period, we encountered unexpected Solitaire stent detachments during mechanical Solitaire thrombectomies in 9 cases. Results : Solitaire stents unexpectedly detached in 9 cases (3.9%) during the retrieval of Solitaire stents. The median patient age was 76 years. The occlusion sites of the unexpected stent detachment were the proximal middle cerebral artery (MCA) in 7 cases and the internal carotid artery in 2 cases. The sizes of the stents that unexpectedly detached were $6{\times}30$ mm in 7 cases, $5{\times}30$ mm in 1 case, and $4{\times}20$ mm in 1 case. Four patients had unexpected detachment at the first retrieval, 1 patient at the second, 3 patients at the third, and 1 patient at the fifth. In all of the cases of unexpected detachment at the first retrieval, the stent deployment site was the proximal MCA. After detachment, a proximal marker of the Solitaire stent was observed in 3 patients. However, no marker was visible in the remaining 6 patients. Conclusion : Unexpected Solitaire stent detachment should be considered in the first instance of stent retrieval for a relatively large-diameter stent, especially in elderly patients with MCA occlusions.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.12
• /
• pp.7315-7319
• /
• 2013

Background: The metastasis gene osteopontin (OPN) is subject to alternative splicing, which yields three messages, osteopontin-a, osteopontin-b and osteopontin-c. Osteopontin-c is selectively expressed in invasive, but not in noninvasive tumors. In the present study, we examined the expression of OPN-c in esophageal squamous cell carcinomas (ESCCs) and assessed its value as a diagnostic biomarker. Methods: OPN-c expression was assessed by immunohistochemistry in 63 ESCC samples and correlated with clinicopathologic factors. Expression was also examined in peripheral blood mononuclear cells (PBMCs) from 120 ESCC patients and 30 healthy subjects. The role of OPN-c mRNA as a tumor marker was investigated by receiver operating characteristic curve (ROC) analysis. Results: Immunohistochemistry showed that OPN-c was expressed in 30 of 63 cancer lesions (48%)and significantly associated with pathological T stage (P=0.038) and overall stage (P=0.023). Real time PCR showed that OPN-c mRNA was expressed at higher levels in the PBMCs of ESCC patients than in those of healthy subjects (P<0.0001) with a sensitivity as an ESCC biomarker of 86.7%. Conclusion: Our findings suggest that expression of OPN-c is significantly elevated in ESCCs and this upregulation could be a potential diagnostic marker.