• Investigative Magnetic Resonance Imaging
• /
• v.17 no.4
• /
• pp.294-307
• /
• 2013

Purpose : To investigate the correlations between Seoul Neuropsychological Screening Battery (SNSB) scores and the gray matter volumes (GMV) in patients with Alzheimer's disease (AD) and mild cognitive impairment (MCI) and cognitively normal (CN) elderly subjects with correcting the genotypes. Materials and Methods: Total 75 subjects were enrolled with 25 subjects for each group. The apolipoprotein E (APOE) epsilon genotypes, SNSB scores, and the 3D T1-weighted images were obtained from all subjects. Correlations between SNSB scores and GMV were investigated with the multiple regression method for each subject group using both voxel-based and region-of-interest-based analyses with covariates of age, gender, and the genotype. Results: In the AD group, Rey Complex Figure Test (RCFT) delayed recall scores were positively correlated with GMV. In the MCI group, Seoul Verbal Learning Test (SVLT) scores were positively correlated with GMV. In the CN group, GMV negatively correlated with Boston Naming Test (K-BNT) scores and Mini-Mental State Examimation (K-MMSE) scores, but positively correlated with RCFT scores. Conclusion: When we used covariates of age, gender, and the genotype, we found statistically significant correlations between some SNSB scores and GMV at some brain regions. It may be necessary to further investigate a longitudinal study to understand the correlation.

• Clinical and Experimental Pediatrics
• /
• v.48 no.11
• /
• pp.1252-1255
• /
• 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.1
• /
• pp.49-53
• /
• 2012

X-linked adrenoleukodystrophy (ALD) is a rare inherited metabolic disease which results in impaired peroxisomal ${\beta}$-oxidation and the accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex, the myelin of the central nervous system, and the testes. X-linked ALD is caused by mutations in the ABCD1 gene encoding an ATP-binding cassette transporter superfamily located in the peroxisomal membrane. This disease is characterized by a variety of phenotypes. The classic childhood cerebral ALD is a rapidly progressive demyelinating condition affecting the cerebral white matter before the age of 10 years in boys. We report the case of a 8-year-old with childhood cerebral X-linked ALD who developed inattention, hyperactivity, motor incoordination and hemiparesis. We diagnosed ALD with elevated plasma very long chain fatty acid level and diffuse high signal intensity lesions in both parieto-occipital white matter and cerebellar white matter in brain MRI. We identified a novel c.983delT (p.Met329CysfsX7) mutation of the ABCD1 gene. There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene. Further studies for searching additional non-genetic factor which determine the phenotypic variation will be needed.

• Asian Oncology Nursing
• /
• v.5 no.2
• /
• pp.146-158
• /
• 2005

Purpose: This study was to obtain a understanding of breast cancer women with high risk for hereditary cancer syndrome. Method: A micro-ethnography was used, including participation observation, open-ended in-depth interviews. Results: Two major arguments were derived. First, When Korean women at high risk to hereditary breast cancer make a decision about whether to take a genetic test, they are strongly motivated by a desire to preserve close kinship bonds and "family love" among their siblings, parents and children. Second, Even after genetic risk assessment and counseling services, Korean women at high-risk for developing a hereditary breast cancer who have been informed that they are mutation carriers, still hold onto previous beliefs about cancer causation. Their cancer prevention strategies are constructed according to their unchanged perceptions and beliefs about cancer causation. Conclusion: More sensitive genetic counseling program needs to be developed. Referral programs and clinical services must be attentive to cultural values and beliefs otherwise cultural attitudes and practices toward genetic counseling will not change.

• Clinical and Experimental Pediatrics
• /
• v.50 no.8
• /
• pp.789-793
• /
• 2007

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.

• Journal of Genetic Medicine
• /
• v.6 no.2
• /
• pp.146-154
• /
• 2009

Multiplex ligation dependent probe amplification (MLPA) is a PCR-based method to detect gene dosage. Since its introduction, MLPA has been used to test a large number of genes for major deletions or duplications. Genetic testing, as a diagnostic tool for genetic disease, has been used primarily to identify point mutations, including base substitutions and small insertions/deletions, using PCR and sequence analysis. However, it is difficult to identify large deletions or duplications using routine PCR- gel based assays, especially in heterozygotes. The MLPA is a more feasible method for identification of gene dosage than another routine PCR-based methods, and better able to detect deleterious deletions or duplications. In addition to detection of gene dosage, MLPA can be applied to identify methylation patterns of target genes, aneuploidy during prenatal diagnoses, and large deletions or duplications that may be associated with various cancers. The MLPA method offers numerous advantages, as it requires only a small amount of template DNA, is applicable to a wide variety of applications, and is high-throughput. On the other hand, this method suffers from disadvantages including the possibility of false positive results affected by template DNA quality, difficulties identifying SNPs located in probe sequences, and analytical complications in quantitative aspects.

• Journal of Food Hygiene and Safety
• /
• v.38 no.4
• /
• pp.217-227
• /
• 2023

The consumption of ready-to-eat side dishes is rapidly growing in South Korea. These foods are particularly vulnerable to microbiological contamination as they are often cooked without any treatment, such as heating or stored at room temperature after cooking. Hence, in 2022, we analyzed the ready-to-eat side dishes sold in Gyeongsangnam-do, South Korea for microbiological contamination. We collected 100 samples from supermarkets in 7 cities, and then examined them for presence of food-borne pathogens and sanitary indicator bacteria. In the analysis of the food-borne pathogens, Bacillus cereus and Clostridium perfringens were isolated from 51 samples (51.0%) and 3 samples (3.0%), respectively. However, both quantitatively met the Korean Food Standards Codex. Genes of five different enterotoxins and one emetic toxin were analyzed from the 51 isolated B. cereus strains. We detected enterotoxin entFM (100.0%), nheA (94.1%), hblC (58.8%), cytK (56.9%), and bceT (41.2%) in 51 isolates, and emetic toxin gene, CER, in only one (2.0%) isolate. We did not detect C. perfringens toxin gene (cpe) that causes food poisoning in any one of the three C. perfringens isolates. In the case of sanitary indicator bacteria, Kimchi had the highest levels of total aerobic bacteria and coliforms, followed by Saengchae, Jeotgal, Jeolim, Namul, and Jorim, respectively. We counted total aerobic bacteria at two different storage temperatures (4℃ and 20℃) to determine the effect of storage temperature. When stored at 20℃, total aerobic bacteria count increased in most of the ready-to-eat side dishes, except for Jeotgal. This result conclusively shows the need for refrigerating the ready-to-eat side dishes after purchase. Further research is needed to assess the risk and safety of the ready-to-eat side dishes available in the market and determine appropriate safety management practices.

• Journal of Life Science
• /
• v.14 no.4
• /
• pp.627-635
• /
• 2004

In order to distinguish the genetic polymorphism among the olive flounder (Paralichthys olivaceus) obtained from East sea of Jumunjin, aquaculture of Tongyoung and Geoje, and East sea of North Korea, the ND-4 and cytochrome b genes of olive flounder were divided into 5 regions. Each region was analyzed by degenerating gel electrophoresis scanning (DGES), and by subsequent DNA sequencing. The DGES disclosed characteristic DNA polymorphisms in ND-4-2 and ND-4-3 regions of olive flounder, which were also confirmed by the DNA sequencing. The olive flounders obtained from the different marine areas showed DNA mutations in ND-4-2 region (G390A, C402T, and A411G； GenBank： AB028664), and also showed frequent DNA mutations in ND-4-3 region (C515G, C537T, C538T, A567G, G714A, C736T, G756A, A759T, T817C, and T829G), white the cytochrome b gene showed no DNA mutation both in the DGES and DNA sequencing. These data suggest that the ND-4-2 and ND-4-3 regions are candidate loci to distinguish the origin of olive flounder, and that the DGES used in this study provided fast and reliable informations for the genetic polymorphism.

• Journal of the Korean Society of Radiology
• /
• v.84 no.3
• /
• pp.736-744
• /
• 2023

Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting. The diagnosis of AOAD is frequently proposed based on the findings on MRI. We demonstrate two cases (37-year-old female and 61-year-old female) with characteristic imaging findings and changes in follow-up MRI in patients with AOAD, which were confirmed via glial fibrillary acidic protein (GFAP) mutation analysis. On MRI, the typical tadpole-like brainstem atrophy and periventricular white matter abnormalities were noted. The presumptive diagnoses were made based on the typical MRI appearances and, subsequently, confirmed via GFAP mutation analysis. Follow-up MRI demonstrated the progression of atrophy in the medulla and upper cervical spinal cord. Our report could help raise awareness of characteristic MRI findings of AOAD, thus helping clinicians use GFAP analysis for AOAD diagnosis confirmation.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.11 no.2
• /
• pp.219-222
• /
• 2008

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.