• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.9 no.1
• /
• pp.42-45
• /
• 2013

De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.13 no.2
• /
• pp.80-85
• /
• 2017

Angelman syndrome is a rare disorder caused by deletion or inactivation of genes on the maternally inherited chromosome 15. This neurodevelopmental disorder is characterized by developmental and intellectual delay, speech impairment, sleep disturbance, seizures, motor dysfunction, and frequent laughing or smiling. Orofacial characteristics include a prominent mandible, large mouth, prominent cheeks, a tendency to rest the tongue between the dental arches, excessive drooling, and excessive chewing behavior. Patients with this syndrome usually require general anesthesia even in a simple operation, because of risk of perioperative seizure during dental procedure. This is a case report about dental treatment of a 3-year-old female patient with Angelman syndrome under general anesthesia. This case suggests that the dental treatment under general anesthesia can be considered a safe component for the uncooperative, delayed developmental patients with underlying disease. Also, periodic dental exam appointment should be made to provide the patients with preventive treatments and to make them remain familiar with the dental environment.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.2
• /
• pp.69-76
• /
• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.5
• /
• pp.1873-1880
• /
• 2015

Background: A recent genome-wide association study (GWAS) on patients with chronic hepatitis C (CHC) treated with peginterferon and ribavirin (pegIFN-${\alpha}$/RBV) identified a single nucleotide polymorphism (SNP) on chromosome 19 (rs12979860) which was strongly associated with a sustained virological response (SVR). The aim of this study was twofold: to study the relationship between IL28B rs12979860 and sustained virological response (SVR) to pegIFN-${\alpha}$/RVB therapy among CHC patients and to detect the rs12979860 polymorphism by high resolution melting curve (HRM) assay as a simple, fast, sensitive, and inexpensive method. Materials and Methods: The study examined outcomes in 100 patients with chronic hepatitis C in 2 provinces of Iran from December 2011 to June 2013. Two methods were applied to detect IL28B polymorphisms: PCR-sequencing as a gold standard method and HRM as a simple, fast, sensitive, and inexpensive method. Results: The frequencies of IL28B rs12979860 CC, CT, and TT alleles in chronic hepatitis C genotype 1a patients were 10% (10/100), 35% (35/100), and 6% (6/100) and in genotype 3a were 13% (13/100), 31% (31/100), and 5% (5/100), respectively. In genotype 3a infected patients, rs12979860 (CC and CT alleles) and in genotype 1a infected patients (CC allele) were significantly associated with a sustained virological response (SVR). The SVR rates for CC, CT and TT (IL28B rs12979860) were 18%, 34% and 4%, respectively. Multiple logistic regression analysis identified two independent factors that were significantly associated with SVR: IL-28B genotype (rs 12979860 CC vs TT and CT; odds ratio [ORs], 7.86 and 4.084, respectively), and HCV subtype 1a (OR, 7.46). In the present study, an association between SVR rates and IL28B polymorphisms was observed. Conclusions: The HRM assay described herein is rapid, inexpensive, sensitive and accurate for detecting rs12979860 alleles in CHC patients. This method can be readily adopted by any molecular diagnostic laboratory with HRM capability and will be clinically beneficial in predicting treatment response in HCV genotype 1 and 3 infected patients. In addition, it was demonstrated that CC and CT alleles in HCV-3a and the CC allele in HCV-1a were significantly associated with response to pegIFN-${\alpha}$/RBV treatment. The present results may help identify subjects for whom the therapy might be successful.

• Journal of Embryo Transfer
• /
• v.31 no.3
• /
• pp.235-242
• /
• 2016

This study tested the association between genotypes of the single nucleotide polymorphism (SNP) marker, rs81437607 and capric acid (FA_C10_0) compositions in longissimus dorsi muscle in pigs. Eighteen fatty acid (FA) compositions were measured in a total of 974 $F_2$ animals among 1,106 $F_2$ progeny produced between Landrace and Jeju Black Pig (JBP). Among FA compositions tested, we identified a cluster of highly significant SNPs for capric acid compositions on 58 Mb position of Sus scrofa chromosome 12 (SSC12) using genome-wide association study (GWAS) with $F_2$ genotypes from SNP panel analysis. GWAS results showed that the rs81437607 was the highest trait-related SNP marker with capric acid levels. Three genotypes (C/C, C/T and T/T) of rs81437607 marker were found in $F_2$ population by further pyrosequencing. Association analysis results showed the significant differences between rs81437607 genotypes and capric acid compositions (P<0.05). The $F_2$ pigs harboring rs81437607 C/C ($0.119{\pm}0.002%$) and C/T ($0.116{\pm}0.002%$) genotypes showed additively higher levels of capric acid content than those of T/T homozygotes ($0.109{\pm}0.002%$) ($P=1.30{\times}10^{-12}$). These results suggested that the genetic variations of rs81437607 may be helpful to find causative variants and assist as molecular genetic markers for improving the capric acid contents in longissimus dorsi muscle in pigs.

• Journal of Applied Biological Chemistry
• /
• v.57 no.4
• /
• pp.379-386
• /
• 2014

Chromatin is an instructive DNA structure that can widely respond to external signals. An important change of chromatin is the modifications of histone for this regulation. There are accumulating lists of these modifications and the complexity of their action is gradually understood. It is evident that histone modifications play important roles in most biological processes that are involved in the expression or repression of DNA. The surface of nucleosomes is susceptible to multiplicity of modifications. Chromatin modifications can play either by eliminating chromatin contacts or by recruiting non-histone proteins to chromatin. Many of these regulations seem to be epigenetically inherited. Thus, histone modifications are closely correlated with many fundamental biological processes in animal, plant and microbial kingdoms. Failures of histone modification lead, in general, to defective chromosome condensation or decondensation, impeding many biological functions including development, maturation, and protection against various diseases.

• Journal of the Korea Academia-Industrial cooperation Society
• /
• v.16 no.12
• /
• pp.8700-8706
• /
• 2015

The first driving device of the power bogies for the Korean high-speed railway vehicle consists of the traction motor (TM) and the motor reduction gears unit (MRU). Although TM and MRU are the mechanically integrated structures, their time between overhauls (TBO) have two separate intervals due to different technical requirements(i.e. TBO of MRU: $1.8{\times}10^6km$, TBO of TM: $2.5{\times}10^6km$). Therefore, to reduce the unnecessary number of preventive maintenances, it is important to evaluate the optimal TBO with a viewpoint of reliability-center maintenance towards cost-effective solution. In this study, derived from the field data in maintenance, fault tree analysis and failure rate of the subsystem considering criticality of the components are evaluated respectively. To minimize the conventional total maintenance cost, the same optimal TBO of the components is derived from genetic algorithm considering target reliability and improvement factor. In this algorithm, a chromosome which comprised of each individual is the minimum preventive maintenance interval. The fitness function of the individual in generation is acquired through the formulation using an inverse number of the total maintenance cost. Whereas the lowest common multiple method produces only a four percent reduction compared to what the existing method did, the optimal TBO of them using genetic algorithm is $2.25{\times}10^6$km, which is reduced to about 14% comparing the conventional method.

• Environmental Analysis Health and Toxicology
• /
• v.18 no.2
• /
• pp.111-120
• /
• 2003

The validation of many synthetic chemicals that may pose a genetic hazard in our environment is of great concern at present. Since these substances are not limited to the original products, and enter the environment, they have become widespread environmental pollutants, thus leading to a variety of chemicals that possibly threaten the public health. In this respect, the regulation and evaluation of the chemical hazard playa very important role to environment and human health. The clastogenicity of 17 synthetic chemicals was evaluated in Chinese hamster lung fibroblast cells in vitro. 2-Nitroaniline (CAS No. 88-74-4) induced chromosomal aberrations with statistical significance at the concentration of 86.3 ${\mu}$g/ml in the absence of metabolic activation system. 1-Chloroanthraquinone (CAS No. 82-44-0) which is one of the most cytotoxic chemical among 17 chemicals tested revealed no clastogenicity in the range of 0.8 ∼ 3.0 ${\mu}$g/ml both in the presence and absence of S-9 metabolic activation system. From the results of chromosomal aberration assay with 17 synthetic chemicals in Chinese hamster lung cells in vitro, 2-Nitroaniline (CAS No. 88-74-4) revealed weak positive clastogenic results in this study.

• Korean Journal of Animal Reproduction
• /
• v.20 no.4
• /
• pp.379-384
• /
• 1997

Superovulation with exogenous gonadotropins creates a spectrum of pre or periovulatory hormonal changes with subsequent detrimental effects on oocyte quality, fertilization, embryo development, implantation and maintenance of pregnancy. Our recent study determined potential roles for insulin-like growth factor-1 (IGF-1) in uterine environment regulation and preimplant tation in the rat. The evidence indicates that IGF-l may play an important role in the main tenance of a receptive uterine environment for embryonic development and the regulation of decidualization. Embryonic loss and failure of implantations following superovulation may be partially attributed to disturbances in uterine IGF-l action as observed in this study. We investigated the effects of superovulatory doses of gonadotropins on frequency of chromosomal a abnormalities of mouse embryos. Chromosome a analysis of mouse zygotes and 8- to 16-cell stage embryos from spontaneously ovulated, 5, 10, and l 15 lU pregnant mare serum gonadotropin (PMSG) superovulated mice was carried out. Aneuploidy, polyploidy and structural chrom- osomal abnormalities were detected among the four groups. However, only polyploidy was correlated with superovulation. In 10 and 15 IV PMSG treated groups, the rate of polypoidy was 2.9% and 10.5%, respectively. Furthermore, there was a dose reponse relationship between the PMSG dose and the incidence of embryonic p polyploidy (P

• Journal of the korean academy of Pediatric Dentistry
• /
• v.30 no.3
• /
• pp.341-347
• /
• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).