• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Proceedings of the Korean Institute of Intelligent Systems Conference
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• 1993.06a
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• pp.773-776
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• 1993

A design method for linear combiner type filters, based on a fuzzy variant of the usual design method, is introduced and analyzed. Design results are exemplified.

• Bulletin of the Korean Mathematical Society
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• v.42 no.3
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• pp.509-520
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• 2005

The author studies the asymptotic behavior of the radial minimizer for a variant of the p-Ginzburg-Landau type functional, in the case of p larger than the dimension, when the parameter tends to zero. The C$^{1, convergence of the radial minimizer is proved. And the estimation of the convergent rate of the minimizer is given.

• Journal of the Chungcheong Mathematical Society
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• v.18 no.1
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• pp.65-72
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• 2005

In this paper we will introduce all types of the isotwist foldings of a manifold M into itself. The limits of the isotwist foldings of a manifold are obtained. Also the relations between conditional retraction and this type of the folding are achieved. Finally the variant and invariant of the immersion under the type of folding are deduced.

• Kyungpook Mathematical Journal
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• v.46 no.1
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• pp.139-144
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• 2006

In this paper, we will introduce the isotwist foldings of a manifold M into itself. The limits of the isotwist foldings of a manifold are obtained. Also the relations be-tween conditional retraction and this type of the foldings are achieved. Finally the variant and invariant of the immersion under this type of foldings are deduced.

• ETRI Journal
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• v.22 no.4
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• pp.25-31
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• 2000

Design of secure and efficient public-key encryption schemes under weaker computational assumptions has been regarded as an important and challenging task. As far as ElGamal-type encryption schemes are concerned, some variants of the original ElGamal encryption scheme based on weaker computational assumption have been proposed: Although security of the ElGamal variant of Fujisaki-Okamoto public -key encryption scheme and Cramer and Shoup's encryption scheme is based on the Decisional Diffie-Hellman Assumption (DDH-A), security of the recent Pointcheval's ElGamal encryption variant is based on the Computational Diffie-Hellman Assumption (CDH-A), which is known to be weaker than DDH-A. In this paper, we propose new ElGamal encryption variants whose security is based on CDH-A and the Elliptic Curve Computational Diffie-Hellman Assumption (EC-CDH-A). Also, we show that the proposed variants are secure against the adaptive chosen-ciphertext attack in the random oracle model. An important feature of the proposed variants is length-efficiency which provides shorter ciphertexts than those of other schemes.

• Journal of Microbiology
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• v.34 no.3
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• pp.236-240
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• 1996

Rifampin is the most powerful drug for treating leprosy and tuberculosis today. It inhibits initiation and elongation of RNA transcription by binding to $\beta$-subunit of RNA polymerase, leading to kill mycobacteria. We isolated one variant strain of Mycobacterium leprae from 24 Korean leprosy patients who are less susceptible to rifampin or have suffered from relapse by polymerase chain reaction and single strand conformation polymorphism (PCR-SSCP) of the rpoB gene. Direct sequencing of the rpoB region of M. leprae variant revealed missense mutations which altered the amino acids sequenceof RpoB to Ser-464, Arg-465, Arg-467 and Ala-468. This is the first finding on rpoB gene mutation of M. leprae from Korean patients ; moreover the mutant type was found to be different from the previously reported cases in other countries.

• Biomedical Science Letters
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• v.27 no.3
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• pp.182-186
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• 2021

Parkinson disease (PD) is becoming one of the most neurodegenerative disorder worldwide. The deposited aggregates have been connected in the pathophysiology of PD, which are degraded either by ubiquitin-proteasomal system (UPS) or autophagy-lysosomal pathway (ALP). Leucin-rich repeat kinase 2 (LRRK2), one of the neurodegenerative proteins of PD is also stringently controlled by both UPS and ALP degradation as well. However, the polyubiquitination pattern of LRRK2 aggregates is largely unknown. Here, we found that K63-linked polyubiquitinations of G2019S mutant, most familial variant for PD, is highly enhanced compared to those of wild type LRRK2 (WT). In addition, in the presence of overexpressed p62/SQSTM-1, ubiquitination of LRRK2 WT or D1994A was reduced, whereas G2019S mutant was not diminished significantly. Therefore, we propose that degradation of G2019S via UPS is more involved with K63-linked ubiquitination than K48-linked ubiquitination, and overexpressed p62/SQSTM-1 does not enhance degradative effect on G2019S variant.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6761-6766
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• 2014

Background: CD44v6 (CD44 variant exon 6) is the chief CD44 variant isoform regulating tumor invasion, progression, and metastasis. The prognostic value of CD44v6 expression in non small cell lung cancer (NSCLC) has been evaluated in many studies, but the results have remained controversial. Thus, we performed a meta-analysis of currently available studies to investigate the prognostic value of CD44v6 expression in NSCLC patients and the relationship between the expression of CD44v6 and clinicopathological features. Materials and Methods: Two independent reviewers searched the relevant literature in Pubmed, Medline and Embase from 1946 to January 2014. Overall survival (OS) and various clinicopathological features were collected from included studies. This meta-analysis was accomplished using STATA 12.0 and Revman 5.2 software. Pooled hazard ratios (HRs) with 95% confidence intervals (95%CIs) were calculated to estimate the effects. Results: A total of 921 NSCLC patients from ten studies met the inclusion criteria. The results showed that CD44v6 high expression was a prognostic factor for poor survival (HR=1.91, 95%CI=1.12-3.26, p<0.05). With respect to clinicopathological features, CD44v6 high expression was related to histopathologic type (squamous cell carcinoma versus adenocarcinoma: OR=2.72, 95%CI=1.38-5.38, p=0.004), and lymph node metastasis (OR=3.02, 95%CI=1.93-4.72, p<0.00001). Conclusions: Our results suggested CD44v6 high expression as a poor prognostic factor for NSCLC, and CD44v6 expression is associated with lymph node metastasis and histopathologic type. Therefore, CD44v6 expression can be used as a novel prognostic marker in NSCLC cases.

• Journal of the Korean Society of Costume
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• v.57 no.9
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• pp.49-66
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• 2007

Trench coat derived from military uniforms was one of the classical fashion items and has been endeared as everyday outfits thanks to useful traits. Since 1990s classical design of trench coat began to be modified and many variant styles were appeared after 2000s. Trench coat designs after 2000s were appeared as tradition type that was stick to basic British classic style, variation type that was changed in details, colors, materials, and silhouettes, evolution type that was changed into new items, deconstruction type that was dissolved and open-structured. Modern trench coat expressed modern chic, elegance feminine, stylish casual, military and gangster images. The characteristics of trench coat as classic fashion were utility for everyday life style, excellent ability to express images, and strong visual effects of characteristic details. Trench coat was timeless as classic fashion, at the same time, changed into new fashion styles suitable for the sense of the times.