• Journal of Microbiology and Biotechnology
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• v.30 no.5
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• pp.662-667
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• 2020

Epidermal growth factor receptor (EGFR) mutations are not only genetic markers for diagnosis but also biomarkers of clinical-response against tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC). Among the EGFR mutations, the in-frame deletion mutation in EGFR exon 19 kinase domain (EGFR exon 19-del) is the most frequent mutation, accounting for about 45% of EGFR mutations in NSCLCs. Development of sensitive method for detecting the EGFR mutation is highly required to make a better screening for drug-response in the treatment of NSCLC patients. Here, we developed a fluorometric tandem gene amplification assay for sensitive detection of low-abundance EGFR exon 19-del mutant genomic DNA. The method consists of pre-amplification with PCR, thermal cycling of ligation by Taq ligase, and subsequent rolling circle amplification (RCA). PCR-amplified DNA from genomic DNA samples was used as splint DNA to conjugate both ends of linear padlock DNA, generating circular padlock DNA template for RCA. Long stretches of ssDNA harboring multiple copies of G-quadruplex structure was generated in RCA and detected by thioflavin T (ThT) fluorescence, which is specifically intercalated into the G-quadruplex, emitting strong fluorescence. Sensitivity of tandem gene amplification assay for detection of the EGFR exon 19-del from gDNA was as low as 3.6 pg, and mutant gDNA present in the pooled normal plasma was readily detected as low as 1% fraction. Hence, fluorometric detection of low-abundance EGFR exon 19 deletion mutation using tandem gene amplification may be applicable to clinical diagnosis of NSCLC patients with appropriate TKI treatment.

• Childhood Kidney Diseases
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• v.22 no.2
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• pp.91-96
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• 2018

Nephrotic syndrome in the first year of life, characterized by renal dysfunction and proteinuria, is associated with a heterogeneous group of disorders. These disorders are often related to genetic mutations, but the syndrome can also be caused by a variety of other diseases. We report an infant with nephrotic syndrome associated with a neuroblastoma. A 6-month-old girl was admitted with a 10% weight loss over 10 days and nephrotic-range proteinuria. She was ill-looking, and her blood pressure was higher than normal for her age. Her cystatin-C glomerular filtration rate was decreased, and levels of plasma renin, aldosterone, and catecholamines were elevated. Renal ultrasonography and abdominal computed tomography showed a retroperitoneal prevertebral mass encasing both renal arteries and the left renal vein. The mass was partially resected laparoscopically, and the pathologic diagnosis was neuroblastoma. Findings on a simultaneous renal biopsy were unremarkable. The patient was treated with chemotherapy and several anti-hypertensive drugs, including an alpha blocker. Two months later, the mass had decreased in size and the proteinuria and hypertension were gradually improving. In an infant with abnormal renin-angiotensin system activation, severe hypertension, and nephrotic-range proteinuria, neuroblastoma can be considered in the differential diagnosis.

• Biomolecules & Therapeutics
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• v.24 no.1
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• pp.19-24
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• 2016

Acute myocardial infarction (AMI) remains a leading cause of morbidity and mortality worldwide. The exploration of new biomarkers with high sensitivity and specificity for early diagnosis of AMI therefore becomes one of the primary task. In the current study, we aim to detect whether there is any heart specific long noncoding RNA (lncRNA) releasing into the circulation during AMI, and explore its function in the neonatal rat cardiac myocytes injury induced by $H_2O_2$. Our results revealed that the cardiac-specific lncRNA MHRT (Myosin Heavy Chain Associated RNA Transcripts) was significantly elevated in the blood from AMI patients compared with the healthy control ($^*p<0.05$). Using an in vitro neonatal rat cardiac myocytes injury model, we demonstrated that lncRNA MHRT was upregulated in the cardiac myocytes after treatment with hydrogen peroxide ($H_2O_2$) via real-time RT-PCR (qRT-PCR). Furthermore, we knockdowned the MHRT gene by siRNA to confirm its roles in the $H_2O_2$-induced cardiac cell apoptosis, and found that knockdown of MHRT led to significant more apoptotic cells than the non-target control ($^{**}p<0.01$), indicating that the lncRNA MHRT is a protective factor for cardiomyocyte and the plasma concentration of MHRT may serve as a biomarker for myocardial infarction diagnosis in humans AMI.

• Radiation Oncology Journal
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• v.3 no.1
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• pp.35-39
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• 1985

The details of 5 patients with exramedullary plasmacytoma of the head and neck were reviewed for the period from 1970 to 1984. All patients were presented with localized disease at the time of diagnosis. Out of 5 patients the one treated with surgery alone developed local recurrence and disseminated disease. He died at 3 years and 6 months. Rest of the four were alive with no evidence of the disease. Two patients were treated with radiation therapy alone while other two were treated with surgery and postoperative radiation therapy. Curative radiation therapy is recommanded after the diagnosis is established by biopsy examination.

• Animal Bioscience
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• v.34 no.8
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• pp.1253-1270
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• 2021

Assessment of male fertility is based on the evaluation of sperm. Semen evaluation measures various sperm quality parameters as fertility indicators. However, semen evaluation has limitations, and it requires the advancement and application of strict quality control methods to interpret the results. This article reviews the recent advances in evaluating various sperm-specific quality characteristics and methodologies, with the help of different assays to assess sperm-fertility status. Sperm evaluation methods that include conventional microscopic methods, computer-assisted sperm analyzers (CASA), and flow cytometric analysis, provide precise information related to sperm morphology and function. Moreover, profiling fertility-related biomarkers in sperm or seminal plasma can be helpful in predicting fertility. Identification of different sperm proteins and diagnosis of DNA damage has positively contributed to the existing pool of knowledge about sperm physiology and molecular anomalies associated with different infertility issues in males. Advances in methods and sperm-specific evaluation has subsequently resulted in a better understanding of sperm biology that has improved the diagnosis and clinical management of male factor infertility. Accurate sperm evaluation is of paramount importance in the application of artificial insemination and assisted reproductive technology. However, no single test can precisely determine fertility; the selection of an appropriate test or a set of tests and parameters is required to accurately determine the fertility of specific animal species. Therefore, a need to further calibrate the CASA and advance the gene expression tests is recommended for faster and field-level applications.

• Journal of the Korean Society of Radiology
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• v.82 no.4
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• pp.826-837
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• 2021

Immunoglobulin G4-related disease (IgG4-RD) is a chronic inflammatory condition involving multiple organs, including the salivary or lacrimal glands, orbit, pancreas, bile duct, liver, kidney, retroperitoneum, aorta, lung, and lymph nodes. It is histologically characterized by tissue infiltration with lymphocytes and IgG4-secreting plasma cells, storiform fibrosis, and obliterative phlebitis. In the thoracic involvement of IgG4-RD, mediastinal lymphadenopathy and perilymphangitic interstitial thickening of the lung are the most common findings. Peribronchovascular and septal thickening and paravertebral band-like soft tissue are characteristic findings of IgG4-RD. Other findings include pulmonary nodules or masses, ground-glass opacity, alveolar interstitial thickening, pleural effusion or thickening, mass in the chest wall or mediastinum, and arteritis involving the aorta and coronary artery. Radiologic differential diagnosis of various malignancies, infections, and inflammatory conditions is needed. In this review, we describe the imaging findings of IgG4-RD and the radiologic differential diagnoses in the thorax.

• Korean Journal of Psychosomatic Medicine
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• v.22 no.1
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• pp.23-30
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• 2014

Objectives : Homocysteine has been associated with cognitive impairment and various psychiatric symptoms. This study was designed to examine the relationship exists between plasma homocysteine concentration and behavioral and psychological symptoms of dementia(BPSD). Methods : 41 subjects with dementia of Alzheimer's type were included in this study. We carried out history taking, physical examination, and cognitive assessment for the diagnosis of dementia of Alzheimer's type based on DSM-IV. We scored the Mini Mental State Examination(MMSE), Global Deterioration Scale(GDS), Clinical Dementia Rating(CDR), and the Korean Neuropsychiatric Inventory(K-NPI). We also measured levels of homocysteine, folate, and vitamin $B_{12}$ in the plasma. Results : We found statistically significant positive correlations between homocysteine concentration with NPI total score, and with scores of several sub-domains such as delusion, agitation/aggression, depression/dysphoria, and elation/euphoria. No significant correlation existed between homocysteine levels and scores of MMSE, GDS, and CDR. Conclusions : This study shows that plasma homocysteine levels are associated with BPSD. Further research is necessary to identify pathophysiologic mechanisms underlying these relationships.

• Proceedings of the Korean Society of Near Infrared Spectroscopy Conference
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• 2001.06a
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• pp.1244-1244
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• 2001

In linear discriminant analysis there are two important properties concerning the effectiveness of discriminant function modeling. The first is the separability of the discriminant function for different classes. The separability reaches its optimum by maximizing the ratio of between-class to within-class variance. The second is the stability of the discriminant function against noises present in the measurement variables. One can optimize the stability by exploring the discriminant variates in a principal variation subspace, i. e., the directions that account for a majority of the total variation of the data. An unstable discriminant function will exhibit inflated variance in the prediction of future unclassified objects, exposed to a significantly increased risk of erroneous prediction. Therefore, an ideal discriminant function should not only separate different classes with a minimum misclassification rate for the training set, but also possess a good stability such that the prediction variance for unclassified objects can be as small as possible. In other words, an optimal classifier should find a balance between the separability and the stability. This is of special significance for multivariate spectroscopy-based classification where multicollinearity always leads to discriminant directions located in low-spread subspaces. A new regularized discriminant analysis technique, the principal discriminant variate (PDV) method, has been developed for handling effectively multicollinear data commonly encountered in multivariate spectroscopy-based classification. The motivation behind this method is to seek a sequence of discriminant directions that not only optimize the separability between different classes, but also account for a maximized variation present in the data. Three different formulations for the PDV methods are suggested, and an effective computing procedure is proposed for a PDV method. Near-infrared (NIR) spectra of blood plasma samples from mastitic and healthy cows have been used to evaluate the behavior of the PDV method in comparison with principal component analysis (PCA), discriminant partial least squares (DPLS), soft independent modeling of class analogies (SIMCA) and Fisher linear discriminant analysis (FLDA). Results obtained demonstrate that the PDV method exhibits improved stability in prediction without significant loss of separability. The NIR spectra of blood plasma samples from mastitic and healthy cows are clearly discriminated between by the PDV method. Moreover, the proposed method provides superior performance to PCA, DPLS, SIMCA and FLDA, indicating that PDV is a promising tool in discriminant analysis of spectra-characterized samples with only small compositional difference, thereby providing a useful means for spectroscopy-based clinic applications.

• Korean Journal of Agricultural Science
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• v.37 no.3
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• pp.393-398
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• 2010

Early pregnancy diagnosis of bovine is an essential component for efficient reproductive plan in farms because long term of non-pregnancy results in economic losses by failure of offspring production and low milk yield in dairy cattle. The major steroid hormones related with reproduction are known to be progesterone and estrogen in bovine pregnancy. To evaluate detection level of hormones in milk, plasma and milk progestrone and estrogen of Holstein cows was analyzed during artificial insemination (AI) and embryo transfer (ET). Progesterone concentration at 21 days postestrus was significantly different in plasma and milk between pregnant and non-pregnant cows. Estrogen concentration at estrus was higher in pregnant recipients than that in non-pregnant recipients. To analyze correlation between hormone levels and conception rates in Holstein, the conception and return rates were checked following AI, and the returned cows were on the track of pregnancy after consecutive AI. Pregnant cows following first AI were considered as high conception group while pregnant cows following third AI were rated as low conception group. Proportion of high and low conception groups in this study was 78.2% and 9.1%, respectively. Hormone analysis indicated that high conception group had higher estrogen level during estrus than low conception group ($26.45{\pm}3.32$ vs $19.017{\pm}2.97$). Progesterone level was not different between high and low conception groups during estrus but increased significantly after 21 days postestrus (21 day: $4.95{\pm}1.12$ vs $0.95{\pm}0.23$, 35 day: $12.47{\pm}3.82$ vs $2.41{\pm}1.21$). In conclusion, the pattern of progesterone and estrogen secretion in Holstein milk samples could be a good candidate for early pregnancy detection and selection of recipients during ET.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.428-431
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• 2010

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other is acquired and associated with anti-ADAMTS-13 autoantibodies. The measurement of ADAMTS-13 activity in plasma, identification of ADAMTS-13 circulating inhibitor, anti-ADAMTS-13 IgG, and ADAMTS-13 gene sequencing are crucial to the diagnosis of TTP. Plasma exchanges are the first-line treatment for acquired TTP, combined with steroids and immunosuppressive drugs. Here, we describe the case of an adolescent patient with TTP, confirmed by decreased level of ADAMTS-13 activity and an increased level of ADAMTS-13 inhibitor, who was successfully treated by plasma exchanges.