• Journal of the korean academy of Pediatric Dentistry
• /
• v.29 no.2
• /
• pp.168-179
• /
• 2002

The purpose of this study was to find a method for improving the children's behavior during dental treatment in relation with dentist's attire. For this study 150 children, visiting a dental clinic, were asked to participate in a survey on the attire of the dentist. The results of the survey were as follows: 1. In the survey for the preference between gown and ordinary clothes according to sex(P<0.05), age(P<0.05), residence (P<0.05) and number of visits(P<0.05), there was more preference for gown(65.3%). 2. The preference for the type of gown and attire under the gown was a long gown and white shirt (30.7%), followed by a suit-like gown (18.7%) and white shirt, and long gown and polo shirt(17.3%). 3. The preference for the color of gown was white(34.7%), followed by pink (18.7%), green(18.0%), blue(15.3%) and yellow(13.3%). 4. The preference for the pattern on the gown was cartoon characters(49.3%), followed by hospital logo(28.7%) and no pattern(14.7%). 5. The preference for ordinary clothes of female dentists was polo shirt(37.3%), followed by striped shirt(28.7%), round T-shirt(18.7%), and everyday Korean traditional dress(15.3%). 6. The preference for ordinary clothes of male dentists was pattern necktie and no pattern Y-shirt(28.0%), followed by no pattern necktie and Y-shirt(21.3%) or pattern shirt with no necktie, and no pattern Y-shirt with no necktie(14.7%). 7. The preference on the protective equipment worn was mask and glove(28.7%), followed by no protective equipment(26.7%), mask, glove and protective glasses(22.7%) at)d only mask(22.0%). Based on the above results, it seems that parting with the traditional white gown and wearing multi-color and pattern attire will provide psychological stability and help improve children's behavior during treatment.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.40 no.1
• /
• pp.66-71
• /
• 2013

Muscular dystrophy is a genetically heterogeneous group of disorders characterized by progressive muscle weakness of variable distribution and severity. Fukuyama type congenital muscular dystrophy (FCMD) is an unusual form of muscular dystrophy with autosomal recessive inheritance and is clinically characterized by an early age of onset, severe central nervous system involvement, facial muscle weakness, and multiple joint contractures. Muscular dystrophy is susceptible to perioperative respiratory, cardiac and other complications. Patients with FCMD have upper airway muscle weakness, therefore general anesthesia is preferred to sedation regarding maintaining the airway when treating these patients. The development of malignant hyperthermia in general anesthesia for patients with muscular dystrophy is a concern. Total intravenous anesthesia should be used instead of inhaled anesthetics because of the risk of malignant hyperthermia. A 3-year-9-month old, 13kg girl with Fukuyama type congenital muscular dystrophy was scheduled for dental treatment under general anesthesia. She had multiple caries and 14 primary teeth needed caries treatment. Prior to general anesthesia, oral premedication with 9 mg midazolam was given. General anesthesia was induced and maintained with target controlled infusion of propofol $3{\sim}3.5{\mu}g/mL$. The patient with progressive muscular dystrophy was successfully treated under total intravenous anesthesia with a target controlled infusion of propofol. There were no complications related to anesthesia and dental treatment during or after the operation. This case suggests that target controlled infusion of propofol is a safe and appropriate anesthetic technique in FCMD patients for dental treatment.

• Journal of Radiation Protection and Research
• /
• v.22 no.4
• /
• pp.227-235
• /
• 1997

Cytogenetic studies were performed in peripheral blood lymphocytes from hospital workers occupationally exposed to low doses of radiation (0.30 - 40.07mSv). The workers were divided into three groups according to their job area : 18 diagnostic radiology, 17 therapeutic radiology, and 16 nuclear medicine. The control group consisted of 49 non-radiation workers with no history of exposure to radiation. A higher percentage of cells with aberration(1.275%) was observed in the workers compared to the controls(0.677%) and the difference was statistically significant(p<0.001). The frequency of chromosomal aberration was $0.706{\times}10^{-2}$/cell in the exposed and $0.344{\times}10^{-2}$/cell in the control(p<0.05). Chromosomal exchange frequency was $0.083{\times}10^{-2}$/cell in the control vs $0.245{\times}10^{-2}$/cell in the workers. There was no evidence of significant increase of chromosome aberration related to age or to the duration of employment. The frequency of chromosomal exchange in workers of nuclear medicine was $0.313{\times}10^{-2}$/cell, which was significantly higher than in the control($0.083{\times}10^{-2}$/cell) or other working groups: therapeutic radiology($0.265{\times}10^{-2}$/cell), and diagnostic radiology($0.167{\times}10^{-2}$/cell). No dose-effect relation was found between chromosome aberration and total cumulative doses, recent 5 yr, recent 2 yr cumulative dose. But in case of last 1 yr cumulative dose, dose-dependant increase was observed when controls were considered(p<0.05). The radiation dose which workers have received was much lower than the maximum permissible dose, but there was a significant difference in the frequency of chromosome aberration between occupationally exposed workers and control. So, it is clear that chromosome aberration is a quite sensitive indicator of radiation exposure and it can be detected at very low dose level of occupational exposure.

• Journal of Life Science
• /
• v.20 no.3
• /
• pp.457-461
• /
• 2010

Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder characterized by reversible flaccid paralysis and intermittent hypokalemia. Although it has been reported that decreased activity in the $K_{ATP}$ channels of the skeletal muscle cell membrane plays a role in the pathogenesis of HOKPP, a clear mechanism has not yet been established. This study aimed to investigate the molecular biological mechanism underlying the decreased activity of $K_{ATP}$ channels in the skeletal muscles of familial HOKPP patients by studying the levels of the $K_{ATP}$ channel subunit Kir6.2. We found that when cells obtained from healthy individuals (normal cells) and HOKPP patients (patient cells) were treated with 4 mM potassium buffer, there was no quantitative change in the KCNJ11 mRNA levels and no difference in the Kir6.2 protein expression in the cytosol and cell membrane. On the other hand, when 1 mM potassium buffer was used, normal cells showed decreased expression of KCNJ11 mRNA as well as decreased expression of Kir6.2 protein in the cell membrane. However, patient cells treated with the same buffer showed no quantitative change in the levels of KCNJ11 mRNA or in the levels of Kir6.2 protein in the cytosol and cell membrane. Thus, in HOKPP patients, the Kir6.2 protein cannot be transported from the cell membrane to the cytosol, leading to closure of the $K_{ATP}$ channels, induction of depolarization, and subsequently, to the paralytic symptoms observed in the patient. Our findings thus provide new insights into the pathogenesis of HOKPP.

• Journal of Genetic Medicine
• /
• v.8 no.1
• /
• pp.1-16
• /
• 2011

Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.

• Journal of Life Science
• /
• v.22 no.3
• /
• pp.366-372
• /
• 2012

This study was conducted to estimate the extent of linkage disequilibrium (LD) and effective population size using whole genomic single nucleotide polymorphisms (SNP) genotyped by DNA chip in Hanwoo. Using the blood samples of 35 young bulls born from 2005 to 2008 and their progenies (N=253) in a Hanwoo nucleus population collected from Hanwoo Improvement Center, 51,582 SNPs were genotyped using Bovine SNP50 chips. A total of 40,851 SNPs were used in this study after elimination of SNPs with a missing genotyping rate of over 10 percent and monomorphic SNPs (10,730 SNPs). The total autosomal genome length, measured as the sum of the longest syntenic pairs of SNPs by chromosome, was 2,541.6 Mb (Mega base pairs). The average distances of all adjacent pairs by each BTA ranged from 0.55 to 0.74 cM. Decay of LD showed an exponential trend with physical distance. The means of LD ($r^2$) among syntenic SNP pairs were 0.136 at a range of 0-0.1 Mb in physical distance and 0.06 at a range of 0.1-0.2 Mb. When these results were used for Luo's formula, about 2,000 phenotypic records were found to be required to achieve power > 0.9 to detect 5% QTL in the population of Hanwoo. As a result of estimating effective population size by generation in Hanwoo, the estimated effective population size for the current status was 84 heads and the estimate of effective population size for 50 generations of ancestors was 1,150 heads. The average decreasing rates of effective population size by generation were 9.0% at about five generations and 17.3% at the current generation. The main cause of the rapid decrease in effective population size was considered to be the intensive use of a few prominent sires since the application of artificial insemination technology in Korea. To increase and/or sustain the effective population size, the selection of various proven bulls and mating systems that consider genetic diversity are needed.

• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.72-79
• /
• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

• Korean Security Journal
• /
• no.57
• /
• pp.231-252
• /
• 2018

we have long used foreign words in using the term for guard security despite the obvious existence of own language, the use of foreign terms is strong in foreign feeling in delivery. and also weakens the true meaning of security. there are no terms expressed independently in korean, and we(they) are negligent in finding them and use the terms of foreign language. as a result, we(they) brought about a lack of choice in terms of proper security for our langage. currenty, it is widely used as a security guard even though there is an appropraite word that corresponds to the meaning and meaning of security guards in our words, we still use enlish expressions. there is because the English language is used for convenience regardless of weather the term is appropraite or not, and as the power of the English language is great amid in the trend of globalization. lt is easy to use english without thinking in terms of the use of terminology. ultimitely, however, this is due to the lack of awareness of the korean language. with these reasons, we must find the term of security guards in pure korean language. until now, we have used the terms 'guard, security, protect' as the terms security and protection the term 'Jikim' refers to the korean language as a means to be vigilant and guarded. Jikim refers to the action of maintaining the current safe state. Like school jikimi, children safety jikimi and environment jikimi, Jikim is already being used in many places. Therefore, the term 'guard' should be changed to an appropriate Korean term, and the term 'Jikim' is considered to be the most appropriate term in various sections. so, 'Jikim' will be appropriate in korean, which corresponds to the meaning of security guards. the guardian here is called the Jikimi. Jikimi is a combination of the word Jikim and the korean pronounce 'I' which means people

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.2
• /
• pp.43-49
• /
• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.3
• /
• pp.99-106
• /
• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.