• Bulletin of the Korean Chemical Society
• /
• 제35권5호
• /
• pp.1455-1459
• /
• 2014

We report a sensitive and reliable FRET-based nanotechnology assay for efficient detection and quantification of bisulfite-unmodified or modified DNA. Bisulfite-untreated DNA or bisulfite-treated DNA is subjected to PCR amplification with biotin-conjugated primers so that the amounts of bisulfite-untreated and treated DNA can be differentiated. Streptavidin-coated quantum dots (QDs) are used to capture biotinylated PCR products intercalated with SYBR Green, enabling FRET measurement. Key features of our method include its low intrinsic background noise, high resolution, and high sensitivity, enabling detection of as little as 1.75 ng of bisulfite-untreated DNA in the presence of an approximately 1,000-fold excess of bisulfite-untreated DNA compared to bisulfate-treated DNA, with the use of PCR reduced (as low as 15 cycles). SYBR Green as an intercalating dye as well as a FRET acceptor allows for a single-step preparation without the need for primers or probes to be chemically conjugated to an organic fluorophore. Multiple acceptors per FRET donor significantly enhance the signal-to-noise ratio as well. In consideration of the high relevance of bisulfite treatment to DNA methylation quantitation, our system for FRET measurement between QDs and intercalating dyes can be generally utilized to analyze DNA methylation and to potentially benefit the scientific and clinical community.

• 한국어류학회지
• /
• 제21권4호
• /
• pp.227-238
• /
• 2009

Oryzias dancena의 난발생 과정과 자치어의 형태발달에 관하여 관찰하였다. 수온 $25{\pm}1^{\circ}C$에서 수정란은 수정 후 1시간이 경과하면 배반이 형성되었다가 30분의 간격으로 4세포기까지 난할이 이루어졌다. 이후로 발생의 속도가 느려져 수정 후, 7시간 45분이 경과된 후 포배기에 이르렀다. 수정 후 5시간 30분 후에 상실기에 도달하였으며, 포배기는 수정 후 7시간 45분 후에 이루어졌다. 수정 후 11시간 30분이 경과된 후 낭배기에 이르렀고, 수정 후 1일 6시간 후, 신경배를 형성하였다. 심장 박동이 시작되는 시기는 수정 후 2일 4시간째에 이루어졌으며, 수정 후 6일 12시간째 장기에 혈관이 형성되었다. 수정 후 11일째에 부화하였고, 부화 직후 자어는 전장이 $4.40{\pm}0.24mm$였으며, 부화 3일 후에 난황이 완전히 흡수되어 후기 자어기로 이행하였다. 부화 후 21일째에 각 지느러미 기조가 완전하게 형성되어 치어기로 이행하였으며, 이 때 전장은 $8.67{\pm}0.87mm$였다. 최초 산란이 이루어지는 시기는 부화 후 9주째로 전장은 $22.58{\pm}2.73mm$였다.

• Journal of Korean Neurosurgical Society
• /
• 제59권2호
• /
• pp.83-90
• /
• 2016

Ependymomas occur in both the brain and spine. The prognosis of these tumors sometimes differs for different locations. The genetic landscape of ependymoma is very heterogeneous despite the similarity of histopathologic findings. In this review, we describe the genetic differences between spinal ependymomas and their intracranial counterparts to better understand their prognosis. From the literature review, many studies have reported that spinal cord ependymoma might be associated with NF2 mutation, NEFL overexpression, Merlin loss, and 9q gain. In myxopapillary ependymoma, NEFL and HOXB13 overexpression were reported to be associated. Prior studies have identified HIC-1 methylation, 4.1B deletion, and 4.1R loss as common features in intracranial ependymoma. Supratentorial ependymoma is usually characterized by NOTCH-1 mutation and p75 expression. TNC mutation, no hypermethylation of RASSF1A, and GFAP/NeuN expression may be diagnostic clues of posterior fossa ependymoma. Although MEN1, TP53, and PTEN mutations are rarely reported in ependymoma, they may be related to a poor prognosis, such as recurrence or metastasis. Spinal ependymoma has been found to be quite different from intracranial ependymoma in genetic studies, and the favorable prognosis in spinal ependymoma may be the result of the genetic differences. A more detailed understanding of these various genetic aberrations may enable the identification of more specific prognostic markers as well as the development of customized targeted therapies.

• Journal of Chest Surgery
• /
• 제51권2호
• /
• pp.109-113
• /
• 2018

Background: Low cardiac output syndrome (LCOS) after cardiac surgery usually requires inotropes. In this setting, critical illness-related corticosteroid insufficiency (CIRCI) may develop. We aimed to investigate the clinical features of CIRCI in the presence of LCOS and to assess the efficacy of steroid treatment. Methods: We reviewed 28 patients who underwent a rapid adrenocorticotropic hormone (ACTH) test due to the suspicion of CIRCI between February 2010 and September 2014. CIRCI was diagnosed by a change in serum cortisol of <$9{\mu}g/dL$ after the ACTH test or a random cortisol level of <$10{\mu}g/dL$. Results: Twenty of the 28 patients met the diagnostic criteria. The patients with CIRCI showed higher Sequential Organ Failure Assessment (SOFA) scores than those without CIRCI ($16.1{\pm}2.3$ vs. $11.4{\pm}3.5$, p=0.001). Six of the patients with CIRCI (30%) received glucocorticoids. With an average elevation of the mean blood pressure by $22.2{\pm}8.7mm\;Hg$ after steroid therapy, the duration of inotropic support was shorter in the steroid group than in the non-steroid group ($14.1{\pm}2.3days$ versus $30{\pm}22.8days$, p=0.001). Three infections (15%) developed in the non-steroid group, but this was not a significant between-group difference. Conclusion: CIRCI should be suspected in patients with LCOS after cardiac surgery, especially in patients with a high SOFA score. Glucocorticoid replacement therapy may be considered to reduce the use of inotropes without posing an additional risk of infection.

• Clinical and Experimental Pediatrics
• /
• 제60권9호
• /
• pp.282-289
• /
• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

• 대한두경부종양학회지
• /
• 제23권1호
• /
• pp.37-40
• /
• 2007

Objectives：Cutaneous angiosarcoma is an infrequent but aggressive neoplasm involving the skin of the face and scalp. Unfamiliarity with the clinical manifestations of cutaneous angiosarcoma frequently leads to misdiagnosis and delay in treatment. Complete surgical resection requires the performance of preoperative staging biopsies to determine the true extent of the neoplasm. Intraoperative frozen section analysis to determine the adequacy of the surgical resection is unreliable due to the high false negative rate. Material and Methods：In five scalp angiosarcoma cases, mapping biopsies were performed at far from the suspected edge of the neoplasm. On permanent pathology, we obtained tumor free margin with occasional focal involvement of the tumor. Results：Frozen-section analysis of the resected margins is inconclusive, for the subtle diagnostic features of angiosarcoma are distorted by the tissue processing required for frozen-section analysis. The characteristic dermal vessels lined by their malignant cells are collapsed by the freezing process. This results in a high rate of false-negative reports and possibly leads to incomplete resection of the neoplasm. Conclusion：Our recommendation is to establish the margins of the tumor by performing preoperative evaluations by mapping biopsies.

• 대한세포병리학회지
• /
• 제7권2호
• /
• pp.157-162
• /
• 1996

Fine needle aspiration(FNA) is an effective tool in diagnosing mammary carcinoma. We experienced 7 cases of histologically confirmed mammary mucinous carcinoma among 3,052 aspirated cases of breast from 1992 to 1996 in Asan Medical Center. The average age of the patient was 48(33-64) years. The mean size of the lesions was $1.6(0.7{\sim}3)cm$, and they were palpated as well-defined, firm to hard masses. The cytologic features that may be useful in making a FNA diagnosis of mucinous carcinoma of the breast were analysed. Mucinous background and tumor cell clusters with occasional single cells were observed in all cases. Among them, two cases showed abundant scattered single cells, whereas only few single cells were seen in the other two cases. Tumor cells exhibited mild pleomorphism in four cases and moderate pleomorphism in three cases. Nucleoli tended to be not prominent and are observed in three cases, rarely noted in other three cases and not seen in one. There was microcalcification in four cases(57%). In conclusion, mucinous background and clustered tumor cells showing mild to moderate pleomorphism with characteristic clinical findings allow us to diagnose mucinous carcinoma of the breast.

• Tuberculosis and Respiratory Diseases
• /
• 제72권2호
• /
• pp.197-202
• /
• 2012

Microscopic polyangiitis is a necrotizing vasculitis, characterized by inflammation of small vessels (capillaries, venules, and arterioles) with few or no immune deposits. The kidneys are the most commonly affected organs and are involved in 90% of patients, whereas pulmonary involvement occurs in a minority of cases (10% to 30%). In cases of lung disease, diffuse alveolar hemorrhage with pulmonary capillaritis is the most common manifestation. Microscopic polyangiitis is strongly associated with antineutrophil cytoplasmic autoantibody, which is a useful diagnostic serological marker. We report a case of microscopic polyangiitis presented as pleural effusion in a 67-year-old female. Pleural effusions have been reported in some cases previously, but the number of cases were small and their characteristics have not been well described. This report describes characteristic findings of pleural fluid and its histological features in a case of microscopic polyangiitis.

• 대한세포병리학회지
• /
• 제12권2호
• /
• pp.121-125
• /
• 2001

Primary small cell carcinoma of the urinary bladder is a rare malignant tumor. A more rapidly fatal course may be seen in advanced stages of small cell carcinoma as compared to similar stages of urothelial carcinoma. It is very important to recognize this distinct form of bladder cancer by urinary cytology The differential diagnosis of small cell carcinoma of the urinary bladder includes metastatic small cell carcinoma, urothelial carcinoma, and primary or secondary malignant lymphoma. This article highlights the urinary cytologic diagnosis of a case of primary small cell carcinoma. A 59-year-old male presented with gross hematuria for five months. Urinary cytology showed high cellularity consisting of tiny monotonous tumor cells in the necrotic background. The tumor cells occurred predominantly singly, but a few in clusters. The cytoplasm was so scanty that only a very narrow rim of it was seen. The nuclei were oval or round and had finely stippled chromatin. Rarely, the nuclei contain visible nucleoli. Frequently cell molding was noted in clusters. Many single cells demonstrated nuclear pyknosis or karyorrhexis. The histologic findings of transurethral resection and partial cystectomy specimen were those of small cell carcinoma. Cytologic distinction may be very difficult but careful attention to clinical features and cellualr details can classify these neoplasms correctly.

• 대한세포병리학회지
• /
• 제9권2호
• /
• pp.169-180
• /
• 1998

Fine needle aspiration cytology(FNAC) has been used effectively as the initial modality in evaluating various thyroid lesions. We correlated cytologic and histopathologic features to investigate the diagnostic pitfalls of FNAC of the thyroid. A total of 1,593 FNACs of the thyroid were diagnosed at the Department of Pathology, Hanyang University Hospital, from January 1993 to December 1997 There were 963 cytologically benign cases(60.5%), 97 suspicious cases(6.1%), and 75 malignant cases(4.71%). The remaining 458 cases(28.8%) were unsatisfactory. Subsequent surgical resection was done in 192 cases. Seventy-two cases(37.5%) were cytologically diagnosed as benign, 45 cases(23.4%) suspicious, 56 cases(29.2%) malignant, and 19 cases(9.9%) unsatisfactory. Histopathologically, 101 cases were benign(11 thyroidites, 52 adenomatous hyperplasias, 34 follicular adenomas, and four Hurthle cell adenomas), and 91 cases malignant(72 papillary carcinomas, 16 follicular carcinomas, one medullary carcinoma, one anaplastic carcinoma, and one granular cell tumor). After excluding 19 unsatisfactory cases, 63 were misdiagnosed. They included 17 benign(three thyroidites and 14 adenomatous hyperplasias), 27 suspicious(10 follicular adenomas, four Hurthle cell adenomas, and seven follicular carcinomas), and 19 malignant(16 papillary carcinoma, one medullary carcinoma, one anaplastic carcinoma. and one granular cell tumor) lesions. The accuracy rates in the benign, suspicious, and malignant categories were 54.9%, 49.8%, & 92.8%, respectively. The cytological pitfalls were as follows: (1) background, (2) crowded follicular cell clusters indistinguishable between follicular neoplasia and adenomatous hyperplasia, (3) papillary structure, irregular nuclear membrane and pleomorphism mimicking those of papillary carcinoma, (4) indistinct eosinophilia in follicular epithelial cells, (5) unusual cellular components not commonly seen in FNACS of the thyroid.