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2.  Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report 
Annals of Rehabilitation Medicine  2014;38(1):109-115.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.
doi:10.5535/arm.2014.38.1.109
PMCID: PMC3953352  PMID: 24639934
Hereditary neuropathy with liability to pressure palsies; Ultrasonography; Electrophysiology
3.  Lofgren's Syndrome-Acute Onset Sarcoidosis and Polyarthralgia: A Case Report 
Annals of Rehabilitation Medicine  2013;37(2):295-299.
Lofgren's syndrome is an acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy (BHL), and polyarthralgia or polyarthritis. This syndrome is common among Caucasians but rare in the Korean population. A 44-year-old woman was admitted to our hospital complaining of polyarthralgia. A chest radiograph revealed BHL and nodular shadows. Angiotensin-converting enzyme levels were within the normal range. Tissue biopsy from a mediastinum lymph node showed noncaseating granulomas. We diagnosed her with Lofgren's syndrome, an acute form of sarcoidosis.
doi:10.5535/arm.2013.37.2.295
PMCID: PMC3660495  PMID: 23705129
Sarcoidosis; Arthritis; Lymph node
4.  LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls 
Korean Journal of Pediatrics  2012;55(10):388-392.
Purpose
Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP.
Methods
Genomic DNAs were obtained from 77 and 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage.
Results
Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P=0.010). The trend that girls with non-AC haplotypes tended to have earlier puberty onset (P=0.037) was illustrated even in the EP+PP patient group by Kaplan-Meier analysis.
Conclusion
The results of the present study showed that non-AC haplotypes of LIN28B had a significant association with PP in girls.
doi:10.3345/kjp.2012.55.10.388
PMCID: PMC3488615  PMID: 23133486
Single-nucleotide polymorphism; Human LIN28 homolog B; Precocious puberty
5.  Enzymatic Transformation of Ginsenoside Rb1 by Lactobacillus pentosus Strain 6105 from Kimchi 
Journal of Ginseng Research  2012;36(3):291-297.
Ginsenoside (ginseng saponin), the principal component of ginseng, is responsible for the pharmacological and biological activities of ginseng. We isolated lactic acid bacteria from Kimchi using esculin agar, to produce β-glucosidase. We focused on the bio-transformation of ginsenoside. Phylogenetic analysis was performed by comparing the 16S rRNA sequences. We identified the strain as Lactobacillus (strain 6105). In order to determine the optimal conditions for enzyme activity, the crude enzyme was incubated with 1 mM ginsenoside Rb1 to catalyse the reaction. A carbon substrate, such as cellobiose, lactose, and sucrose, resulted in the highest yields of β-glucosidase activity. Biotransformations of ginsenoside Rb1 were analyzed using TLC and HPLC. Our results confirmed that the microbial enzyme of strain 6105 significantly transformed ginsenoside as follows: Rb1→gypenoside XVII, Rd→F2 into compound K. Our results indicate that this is the best possible way to obtain specific ginsenosides using microbial enzymes from 6105 culture.
doi:10.5142/jgr.2012.36.3.291
PMCID: PMC3659591  PMID: 23717130
Panax ginseng; Lactobacillus pentosus; Transformation; Ginsenoside
6.  Parameters Measuring Beta-Cell Function Are Only Valuable in Diabetic Subjects with Low Body Mass Index, High Blood Glucose Level, or Long-Standing Diabetes 
Yonsei Medical Journal  2011;52(6):939-947.
Purpose
The aim of this study was to identify the most precise and clinically practicable parameters that predict future oral hypoglycemic agent (OHA) failure in patients with type 2 diabetes, and to determine whether these parameters are valuable in various subgroups.
Materials and Methods
We took fasting blood samples from 231 patients for laboratory data and standard breakfast tests for evaluation of pancreatic beta-cell function. Hemoglobin A1c (HbA1c) levels were tested, and we collected data related to hypoglycemic medications one year from the start date of the study.
Results
Fasting C-peptide, postprandial insulin and C-peptide, the difference between fasting and postprandial insulin, fasting beta-cell responsiveness (M0), postprandial beta-cell responsiveness (M1), and homeostasis model assessment-beta (HOMA-B) levels were significantly higher in those with OHA response than in those with OHA failure. The area under the curve (AUC) of the receiver operating characteristic (ROC) measured with postprandial C-peptide to predict future OHA failure was 0.720, and the predictive power for future OHA failure was the highest of the variable parameters. Fasting and postprandial C-peptide, M0, and M1 levels were the only differences between those with OHA response and those with OHA failure among diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes.
Conclusion
In conclusion, postprandial C-peptide was most useful in predicting future OHA failure in type 2 diabetic subjects. However, these parameters measuring beta-cell function are only valuable in diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes.
doi:10.3349/ymj.2011.52.6.939
PMCID: PMC3220257  PMID: 22028157
Type 2 diabetes; beta-cell function; OHA failure; standard breakfast test; C-peptide
7.  The metabolic syndrome and body composition in childhood cancer survivors 
Korean Journal of Pediatrics  2011;54(6):253-259.
Purpose
Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea.
Methods
We performed a retrospective review of medical records of 98 childhood cancer survivors who were diagnosed and completed anticancer treatment at Samsung Medical Center, Seoul, Korea between Jan. 1996 and Dec. 2007. Parameters of metabolic syndrome were evaluated between Jan. 2008 and Dec. 2009. Clinical and biochemical findings including body fat percentage were analyzed.
Results
A total of 19 (19.4%) patients had the metabolic syndrome. The median body fat percentage was 31.5%. The body mass index and waist circumference were positively correlated with the cranial irradiation dose (r=0.38, P<0.001 and r=0.44, P<0.00, respectively). Sixty-one (62.2%) patients had at least one abnormal lipid value. The triglyceride showed significant positive correlation with the body fat percentage (r=0.26, P=0.03). The high density lipoprotein cholesterol showed significant negative correlation with the percent body fat (r=-0.26, P=0.03).
Conclusion
Childhood cancer survivors should have thorough metabolic evaluation including measurement of body fat percentage even if they are not obese. A better understanding of the determinants of the metabolic syndrome during adolescence might provide preventive interventions for improving health outcomes in adulthood.
doi:10.3345/kjp.2011.54.6.253
PMCID: PMC3174361  PMID: 21949520
Cancer survivor; Metabolic syndrome; Body composition; Fat percentage
8.  Modifications of T-Scores by Quantitative Ultrasonography for the Diagnosis of Osteoporosis in Koreans 
Journal of Korean Medical Science  2009;24(2):232-236.
To identify a proper T-score threshold for the diagnosis of osteoporosis in Koreans using quantitative ultrasonography (QUS), normative data from 240 females and 238 males (ages 20-29 yr) were newly generated. Then, the osteoporosis prevalence estimate for men and women over 50 yr of age was analyzed using previous World Health Organization (WHO) methods and heel QUS. T-scores were calculated from the normative data. There were definite negative correlations between age and all of the QUS parameters, such as speed of sound (SOS), broadband ultrasound attenuation (BUA), and estimated heel bone mineral density (BMD) (p<0.0001). After applying the recently determined prevalence of incident vertebral fracture in Koreans over 50 yr of age (11.6% and 9.1%, female vs male, respectively) to the diagnosis of osteoporosis by T-scores from heel BMD as measured by QUS, it was revealed that applicable T-scores for women and men were -2.25 and -1.85, respectively. These data suggest that simply using a T-score of -2.5, the classical WHO threshold for osteoporosis, underestimates the true prevalence when using peripheral QUS. Further prospective study of the power of QUS in predicting the absolute risk of fracture is needed.
doi:10.3346/jkms.2009.24.2.232
PMCID: PMC2672121  PMID: 19399263
Osteoporosis; Ultrasonography; Diagnosis; Demography
9.  Expression and Regulation of Osteoprotegerin in Adipose Tissue 
Yonsei Medical Journal  2007;48(5):765-772.
Purpose
Osteoprotegerin (OPG), a potent inhibitor of osteoclastic bone resorption, has a variety of biological functions that include anti-inflammatory effects. Adipocytes and osteoblasts share a common origin, and the formation of new blood vessels often precedes adipogenesis in developing adipose tissue microvasculature. We examined whether OPG is secreted from adipocytes, therefore contributing to the prevention of neovascularization and protecting the vessels from intimal inflammation and medial calcification.
Materials and Methods
The mRNA expression of OPG and receptor activator of NF-κB ligand (RANKL) was measured in differentiated 3T3L1 adipocytes and adipose tissues.
Results
OPG mRNA expression increased with the differentiation of 3T3L1 adipocytes, while RANKL expression was not significantly altered. OPG mRNA was expressed at higher levels in white adipose tissue than in brown adipose tissue and was most abundant in the epididymal portion. In differentiated 3T3L1 adipocytes, Rosiglitazone and insulin reduced the OPG/RANKL expression ratio in a dose- and time-dependent manner. In contrast, tumor necrosis factor-α (TNF-α) increased the expression of both OPG and RANKL in a time-dependent manner. The OPG/RANKL ratio was at a maximum two hours after TNF-α treatment and then returned to control levels. Furthermore, OPG was abundantly secreted into the media after transfection of OPG cDNA with Phi C31 integrase into 3T3L1 cells.
Conclusion
Our results indicate that OPG mRNA is expressed and regulated in the adipose tissue. Considering the role of OPG in obesity-associated inflammatory changes in adipose tissue and vessels, we speculate that OPG may have both a protective function against inflammation and anti-angiogenic effects on adipose tissue.
doi:10.3349/ymj.2007.48.5.765
PMCID: PMC2628141  PMID: 17963332
Osteoprotegerin; receptor activator of NF-κB ligand; anti-angiogenic effects; obesity
10.  A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients 
Korean Journal of Pediatrics  2012;55(3):88-92.
Purpose
Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II.
Methods
We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl-α-iduronate 2-sulphate.
Results
Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type (P=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 nmol·4 hr-1·mL-1. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; P=0.003).
Conclusion
These results show that the mild phenotype may be related to residual lysosomal enzyme activity.
doi:10.3345/kjp.2012.55.3.88
PMCID: PMC3315624  PMID: 22474463
Hunter syndrome; Mucopolysaccharidosis II; Iduronate sulfatase; Genotype phenotype

Results 1-10 (10)