• The Journal of the Korea Contents Association
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• v.22 no.2
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• pp.762-769
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• 2022

Genetic testing in prenatal diagnosis is a precious tool providing valuable information in clinical management and parental decision-making. For the last year, cytogenetic testing methods, such as G-banding karyotype analysis, fluorescent in situ hybridization, chromosomal microarray, and gene panels have evolved to become part of routine laboratory testing. However, the limitations of each of these methods demonstrate the need for a revolutionary technology that can alleviate the need for multiple technologies. The recent introduction of new genomic technologies based on next-generation sequencing has changed the current practice of prenatal testing. The promise of these innovations lies in the fast and cost-effective generation of genome-scale sequence data with exquisite resolution and accuracy for prenatal diagnosis. Here, we review the current state of sequencing-based pediatric diagnostics, associated challenges, as well as future prospects.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.453-458
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• 2003

Usually Mylar strip and wedge or celluloid strip crown were used in conventional method of restoring proximal carious lesions of primary anterior teeth. But, these methods have some difficulties to place the matrix and wedge due to short crown lenth and interdental spacing of primary teeth. And it is difficult to form proper cavosurface margin due to the rigidity of matrix and inconvenience to support matrix by practitioner's hand in narrow oral cavity of child. This article describes an alternative technique for restoring carious lesions of primary anterior teeth using available straw. This method is very convenient and reduce chair time and it also allows good marginal adaptation.

• Biomedical Science Letters
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• v.10 no.2
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• pp.163-169
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• 2004

Worldwide, tuberculosis remains one of the leading infectious diseases, accounting for nearly 3 million deaths and more than 8 million new cases annually. DNA typing of Mycobacterium tuberculosis is important for the control of tuberculosis, since it can be used to track transmission route of tuberculosis, source of internal laboratory contaminations, and to answer questions on the nature of tuberculosis infections such as reactivation or exogenous reinfection of disease. At present, IS6110-based RFLP is the choice of method for typing large numbers of clinical isolates of M. tuberculosis, since it has the highest resolution power. However, RFLP requires long time, high cost and qualified experts, so only reference level laboratories can use the RFLP technique. In order to have an optional molecular typing method suitable for the clinical settings, this study evaluated the use of one of PCR-based typing methods, IS6110-based outward PCR for typing clinical isolates of M. tuberculosis. In brief, the results from this study showed that IS6110-based RFLP is useful to discriminate diverse clinical isolates of M. tuberculosis as well as to identify clinical isolates that belong to the same family or cluster groups that have been previously classified by RFLP analysis. In addition, the banding profiles resulted from IS6110-based outward PCR seemed to represent genomic characteristics of M. tuberculosis, since strains belong to the K-family generated unique band that is not present in any other strains but present only in the genome of K-family strains. The IS6110-based outward PCR was also shown to be useful with DNAs isolated directly from liquid cultures indicating this method can be suitable for typing M. tuberculosis in clinical settings.

• Journal of Microbiology and Biotechnology
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• v.17 no.7
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• pp.1079-1082
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• 2007

Chromosome microdissection and the reverse FISH technique is one of the most useful methods for the identification of structurally abnormal chromosomes. In particular, the laser microbeam microdissection (LMM) method allows rapid isolation of a target chromosome or a specific region of chromosomes without damage of genetic materials and contamination. Isolated chromosomes were directly amplified by the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), and then the FISH probes labeled with spectrum green- or spectrum red-dUTP were generated by nick-translation. Whole chromosome painting (WCP) probes were successfully generated from only 5 copies of the chromosome. With this method, we produced 24 WCP probes for each human chromosome. We also tried to characterize a marker chromosome, which seemed to be originated from chromosome 11 on conventional banding technique. The marker chromosomes were isolated by the LMM method and analyzed by reverse FISH. We elucidated that the marker chromosome was originated from the short arm of chromosome 5 ($5p11{\to}pter$). A fully automated and computer-controlled LMM method is a very simple laboratory procedure, and enables rapid and precise characterization of various chromosome abnormalities.

• Archives of Plastic Surgery
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• v.40 no.4
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• pp.425-432
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• 2013

Background Recently, the number of thyroid surgery cases has been increasing; consequently, the number of patients who visit plastic surgery departments with a chief complaint of swallowing deformity has also increased. We performed a scar correction technique on post-thyroidectomy swallowing deformity via platysma flap with Z-plasty and obtained satisfactory aesthetic and functional outcomes. Methods The authors performed operations upon 18 patients who presented a definitive retraction on the swallowing mechanism as an objective sign of swallowing deformity, or throat or neck discomfort on swallowing mechanism such as sensation of throat traction as a subjective sign after thyoridectomy from January 2009 till June 2012. The scar tissue that adhered to the subcutaneous tissue layer was completely excised. A platysma flap as mobile interference was applied to remove the continuity of the scar adhesion, and additionally, Z-plasty for prevention of midline platysma banding was performed. Results The follow-up results of the 18 patients indicated that the definitive retraction on the swallowing mechanism was completely removed. Throat or neck discomfort on the swallowing mechanism such as sensation of throat traction also was alleviated in all 18 patients. When preoperative and postoperative Vancouver scar scales were compared to each other, the scale had decreased significantly after surgery (P<0.05). Conclusions Our simple surgical method involved the formation of a platysma flap with Z-plasty as mobile interference for the correction of post-thyroidectomy swallowing deformity. This method resulted in aesthetically and functionally satisfying outcomes.

• The Journal of Korean Institute of Electromagnetic Engineering and Science
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• v.18 no.12
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• pp.1408-1418
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• 2007

In this paper, we analyze the performance of pilot symbol assisted channel estimation and equalization schemes for OFDM systems over frequency-selective time-varying channels and propose methods to improve the system performance. In the least square(LS) and linear minimum mean square error(MMSE) channel estimation, time domain windowing is introduced for banding the frequency domain channel matrix. The linear MMSE and decision feedback equalization schemes are employed with the pilot symbols for channel estimation taken into account in the equalization process. To reduce computational complexity, the band LU matrix factorization algorithm is introduced in solving the linear systems involved in the equalization, and the performances are compared with the known previous results by computer simulations. When time domain windowing is employed in the decision feedback equalization, the matrix related with the decision feedback process is shown to be unhanded and the resultant performance degradation is analyzed.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.111-118
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• 2010

Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test, replacing conventional cytogenetics or targeted detection such as FISH or PCR-based methods. Recently, some consensus statements have proposed utilization of CMA as a first-line test in patients with multiple congenital anomalies not specific to a well-delineated genetic syndrome, developmental delay/intellectual disability, or autism spectrum disorders. CMA can be used as an adjunct to conventional cytogenetics to identify chromosomal abnormalities observed in G-banding analysis in constitutional or acquired cases, leading to a more accurate and comprehensive assessment of chromosomal aberrations. Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs. For these reasons, CMA is not currently a replacement for conventional cytogenetics in prenatal diagnosis. In clinical applications of CMA, knowledge and experience based on genetics and cytogenetics are required for data analysis and interpretation, and appropriate follow-up with genetic counseling is recommended.

• Clinical and Experimental Reproductive Medicine
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• v.32 no.2
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• pp.113-119
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• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

• Korean Journal of Environmental Biology
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• v.36 no.4
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• pp.550-553
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• 2018

The lifespan of bats is longer compared to that of other similarly sized mammals, and it is recorded that some bats' lifespan is more than 30 years. However, it is known that the lifespan of Pipistrellus abramus using human residential areas as their habitats is less than five years. We have put aluminum rings on the forearms of 284 P. abramus starting from 2008. Interestingly, in June 2018, a female adult bat was recaptured ten years after the aluminum ring was attached. The results of this study on the lifespan of P. abramus is new and it's likely to form the baseline for lifespan studies and habitat management of P. abramus in the future.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.11
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• pp.5391-5397
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• 2012

Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.