• Genomics & Informatics
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• v.20 no.3
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

• Korean Journal of Oriental Medicine
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• v.18 no.3
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• pp.49-61
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• 2012

This article set out to develop an old Chinese - modern Korean collated terminology by analyzing and paralleling Chinese-Korean translational terms relevant to Korean medicine at a minimum meaning unit from "Eonhaegugeupbang", "Eonhaetaesanjipyo" and "Eonhaetaesanjipyo". Those are composed of original Chinese texts and their subsequent corresponding Korean translations. It tries to make a list of translational standards of Korean medicine terms by classifying the cases of translational ambiguity in terms of disease, body position, thumbnail-pressing acupuncture method, and disease-curing method. The above-mentioned ancient books are medical classics written by Huh Jun, the representative medical physician, and published by the Joseon government. Thus, they are appropriate enough as historically legitimate medical documents, from which are drawn out words and terms to form an old Chinese - modern Korean collation dictionary. This collation glossary will contribute to the increased relevance of data ming, or information retrieval. in a database system and information search engine of massive Korean medical records, by means of providing a novel way to obtaining synchronized results between the original writings of old Chinese and the secondary translated ones of modern Korean. The glossary will promote the collective but consistent translation of numerous old archives of Korean medicine and in other related fields as well.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.71-75
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• 2019

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.2
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• pp.143-147
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• 2017

The use of novel oral anticoagulants (NOACs) has increased in recent times in an effort to overcome the shortcomings of warfarin. They are being used primarily for the prevention of thrombosis caused by atrial fibrillation and offer the advantages of having fewer drug interactions than warfarin, no dietary restrictions, and no requirement for regular blood tests. Although there is reportedly less postoperative bleeding even if the drug is not discontinued during procedures that can cause local bleeding, such as dental procedures, no well-designed clinical studies have assessed postoperative bleeding associated with the use of these drugs. This article reports a case of a 74-year-old male patient who was taking rivaroxaban. The patient underwent a dental implant procedure after discontinuing rivaroxaban for one day and subsequently suffered delayed bleeding on postoperative day 6. Accordingly, this article also reports that the use of NOACs may also lead to delayed bleeding.

• 한국HCI학회:학술대회논문집
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• 2009.02a
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• pp.221-226
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• 2009

Not many years ago, people found the contemporary technology expensive and difficult to use in collaborative type of meetings. Today, with the technology advanced to high standards and accessible at cheaper price, its adaption is becoming more and more ubiquitous with wide range of applications. Today's meeting rooms are not just plain old telephone systems with microphones and speakers. Today's meeting rooms are smart and intelligent. They can identify the participants; they can provide natural view of remote participants; they can proactively manage resources for collaboration and so on. More effective collaboration is possible with deployment of devices like high-definition cameras, advanced displays, sensors, gigabit networks, trackers, pointers, and high-end audio devices. Devices alone are not enough in the meeting rooms. We need software infrastructure to manage the devices and meeting contexts. One such software infrastructure is SMeet, a Smart Meeting space, which we have developed to provide an effective multi-party remote collaboration environment. Networked display systems are used in such advanced collaboration environment for better visualization. In this paper we discuss a novel approach to control and manage networked display systems in SMeet environment.

• BMB Reports
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• v.43 no.6
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• pp.383-388
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• 2010

The number of cancer patients has increased due to longer life spans and treatment has become a universal problem. Since molecular-targeted therapies were introduced as a new developmental strategy, certain targets have been examined hundreds of times, with developers overlapping their research efforts. We need to focus our energy and resources on novel drug candidate identification and optimization, in order to enhance the entry of early-stage drug candidates into the therapeutics pipeline. This presents a major opportunity for Korea to jump the decades-old development gap between our programs and those that are more advanced in other countries. Although this country does not have a specific center for validation and development of cancer therapeutics, we do have cutting-edge scientists performing research in many institutions. In this paper, I will review cancer drug development in Korea and suggest future directions, while urging colleagues to utilize their networking expertise so we can move toward a new paradigm of novel therapeutics development. An example of such efforts has begun with the Drug Development Consortium, which was described in the KSBMB chapter. This consortium was launched in 2010 by biochemists, chemists, cell and molecular biologists and pharmacologists. It is clear that effective cancer therapeutics will be developed more efficiently when we all strive for the same goal.

• Journal of Genetic Medicine
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• v.14 no.2
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• pp.86-89
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• 2017

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

• Childhood Kidney Diseases
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• v.24 no.1
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• pp.58-61
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• 2020

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused by resistance to mineralocorticoid action. PHA1 is of two types with different levels of disease severity and phenotype as follows: systemic type with an autosomal recessive inheritance (caused by mutations of the epithelial sodium channel) and renal type with an autosomal dominant inheritance (caused by mutations in the mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely; however, PHA1 commonly involves hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of renin and aldosterone. The earliest signs of both type of PAH1 also comprise insufficiency weight gain due to chronic dehydration and failure to thrive during infancy. Here, we report a case of renal PAH1 in a 28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene (c.1341_1345dupAAACC in exon 2), showing only failure to thrive without the characteristic of dehydration.

• Journal of Microbiology and Biotechnology
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• v.19 no.11
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• pp.1447-1455
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• 2009

Two novel avian $\beta$-defensins (AvBDs) isolated from duck liver were characterized and their homologies with other AvBDs were analyzed. They were shown to be duck AvBD9 and AvBD10. The mRNA expression of the two genes was analyzed in 17 different tissues from 1-28-day-old ducks. AvBD9 was differentially expressed in the tissues, with especially high levels of expression in liver, kidney, crop, and trachea, whereas AvBD10 was only expressed in the liver and kidney of ducks at all the ages investigated. We produced and purified GST-tagged recombinant AvBD9 and AvBDI0 by expressing the two genes in Escherichia coli. Both recombinant proteins exhibited antimicrobial activity against several bacterial strains. The results revealed that both recombinant proteins retained their antimicrobial activities against Staphylococcus aureus under a range of different temperatures ($-70^{\circ}C-100^{\circ}C$) and pH values (pH 3-12).

• ETRI Journal
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• v.40 no.1
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• pp.111-121
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• 2018

To find the emerging patterns (EPs) in streaming transaction data, the streaming is first divided into some time windows containing a number of transactions. Itemsets are generated from transactions in each window, and then the emergence of itemsets is evaluated between two windows. In the tilted-time windows model (TTWM), it is assumed that people need support data with finer accuracy from the most recent windows, while accepting coarser accuracy from older windows. Therefore, a limited array's elements are used to maintain all support data in a way that condenses old windows by merging them inside one element. The capacity of elements that accommodates the windows inside is modeled using a particular number sequence. However, in a stream, as new data arrives, the current array updating mechanisms lead to many null elements in the array and cause data incompleteness and inaccuracy problems. Two models derived from TTWM, logarithmic TTWM and Fibonacci windows model, also inherit the same problems. This article proposes a novel push-front Fibonacci windows model as a solution, and experiments are conducted to demonstrate its superiority in finding more EPs compared to other models.