To elucidate the complex of insulin-like growth factor binding proteins (IGF-BPs) in short stature patients, we carried out a prospective study on three patients who were diagnosed as complete GH deficiency at the department of pediatrics from July 1992 to June 1993. The results were summarized as follows: 1) Two circulating IGFs complexed to specific binding protein existed in normal serum. Binding activity was found to be in the 150,000 molecular weight area (the large complex) and 50~60,000 molecular weight area (the small complex). 2) Binding activity for the large complex was seen to be dependent on advancing age, level of large IGF-BP3 complex peacked at the age of 15~16 years. 3) The binding activity for large complex diminished in three GH deficient patients and increased after hGH injection to near or above normal level. 4) Increased growth rate after GH treatment in GH deficient patient was closely related with increasing level of the large IGF-BP3 complex. Therefore we suggest that the large IGF-BP3 complex is regulated by GH. Estimating its serum level is useful for screening of GH deficiency and the monitoring of response to GH therapy.
Carrier Proteins ; Growth Hormone* ; Humans ; Insulin-Like Growth Factor Binding Proteins ; Insulin-Like Growth Factor I* ; Mass Screening ; Molecular Weight ; Pediatrics ; Prospective Studies

Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification. The genetic diversity of the mtDNA sequence in different ethnic populations has been revealed through MPS analysis, but the Korean population not only has limited MPS data for the entire mtGenome, the existing data is mainly focused on the control region. In this study, the complete mtGenome data for 186 Koreans, obtained using Ion Torrent Personal Genome Machine (PGM) technology and retrieved from rather common mtDNA haplogroups based on the control region sequence, are described. The results showed that 24 haplogroups, determined with hypervariable regions only, branched into 47 subhaplogroups, and point heteroplasmy was more frequent in the coding regions. In addition, sequence variations in the coding regions observed in this study were compared with those presented in other reports on different populations, and there were similar features observed in the sequence variants for the predominant haplogroups among East Asian populations, such as Haplogroup D and macrohaplogroups M9, G, and D. This study is expected to be the trigger for the development of Korean specific mtGenome data followed by numerous future studies.

BACKGROUND: An exact ABO blood group is essential for prevention of transfusion accident and safe transfusion therapy. It is known that one of causes of ABO discrepancies is ABO subgroup caused by genetic polymorphism. Therefore, we analyzed ABO genotype of ABO discrepancies in blood donors and studied the distribution and cause of ABO discrepancies. METHODS: This study examined 118 samples showing ABO discrepancies of ABO blood typing between May 2003 and Dec 2003. ABO genotyping using the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was performed on 118 samples. Restriction enzymes including BssH II, Kpn I and Alu I were used for PCR-RFLP. RESULTS: The genotypes of 118 cases were composed of 43 cases of A/B, 12 cases of A/O, 10 cases of B/O, 1 case of B/B, 37 cases of cis-AB/O, 4 cases of cis-AB/A, 11 cases of cis-AB/B. The genotype of cis-AB/O showed 32 cases with phenotype A2 B3 , 2 cases with phenotype A2 B, 2 cases with phenotype A1 B3 , 1 case with phenotype Ael B. The genotype of cis-AB/B showed 11 cases with phenotype A2 B, and cis-AB/A showed 2 cases with phenotype A2 B3 , 1 case with phenotype A1 Bx and 1 case with phenotype A1 Bel. CONCLUSION: These data demonstrated that the most frequent genotype of ABO discrepancies in our study is cis-AB. The most predominent phenotype of cis-AB/O is A2 B3 . ABO genotyping is useful in resolving ABO discrepancies, and determination of ABO subgroups.
Blood Donors* ; Blood Grouping and Crossmatching ; Genotype ; Humans ; Phenotype ; Polymorphism, Genetic

The purpose of this study was to evaluate the effect of multiple application of all-in-one dentin adhesive system on microtensile bond strength to caries-affected dentin. Twenty one extracted human molars with occlusal caries extending into mid-dentin were prepared by grinding the occlusal surface flat. The carious lesions were excavated with the aid of caries detector dye. The following adhesives were applied to caries-affected dentin according to manufacturer's directions; Scotchbond(TM) Multi-Purpose in SM group, Adper Prompt L-Pop(TM) 1 coat in LP1 group, 2 coats in LP2 group, 3 coats in LP3 group, Xeno(R) III 1 coat in XN1 group, 2 coats in XN2 group, and 3 coats in XN3 group. After application of the adhesives, a cylinder of resin-based composite was built up on the occlusal surface. Each tooth was sectioned vertically to obtain the 1 x 1 mm2 sticks. The microtensile bond strength was determined. Each specimen was observed under SEM to examine the failure mode. Data were analyzed with one-way ANOVA. The results of this study were as follows; 1. The microtensile bond strength values were; SM (14.38 +/- 2.01 MPa), LP1 (9.15 +/- 1.81 MPa), LP2 (14.08 +/- 1.75 MPa), LP3 (14.06 +/- 1.45 MPa), XN1 (13.65 +/- 1.95 MPa), XN2 (13.98 +/- 1.60 MPa), XN3 (13.88 +/- 1.66 MPa). LP1 was significantly lower than the other groups in bond strength (p < 0.05). All groups except LP1 were not significantly different in bond strength (p > 0.05). 2. In LP1, there were a higher number of specimens showing adhesive failure. Most specimens of all groups except LP1 showed mixed failure.
Adhesives* ; Dentin* ; Humans ; Molar ; Tooth

In addition to identifying genetic differences between target populations, it is also important to determine the impact of genetic differences with regard to the respective target populations. In recent years, there has been an increasing number of cases where this approach is needed, and thus various statistical methods must be considered. In this study, genetic data from populations of Southeast and Southwest Asia were collected, and several statistical approaches were evaluated on the Y-chromosome short tandem repeat data. In order to develop a more accurate and practical classification model, we applied gradient boosting and ensemble techniques. To infer between the Southeast and Southwest Asian populations, the overall performance of the classification models was better than that of the decision trees and regression models used in the past. In conclusion, this study suggests that additional statistical approaches, such as data mining techniques, could provide more useful interpretations for forensic analyses. These trials are expected to be the basis for further studies extending from target regions to the entire continent of Asia as well as the use of additional genes such as mitochondrial genes.
Asia ; Asian Continental Ancestry Group* ; Classification* ; Data Mining* ; Decision Trees ; Ethnic Groups* ; Genes, Mitochondrial ; Health Services Needs and Demand ; Humans ; Microsatellite Repeats ; Models, Statistical

Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean population and to assess the applicability of this finding to build a prediction model as forensic DNA phenotyping tool to operate in practical forensic cases. Five hundred seventy unrelated Koreans were genotyped using microfluidic technology with 24 possible candidate single nucleotide polymorphism (SNP) markers. Of the 24 candidate SNPs, four markers, rs671, rs2074356, rs4646776, and rs10849915, on chromosome 12 showed statistically significant association with P-values ranging from 1.39×10⁻¹⁴ to 0.004988 among our subjects. All four markers show relatively high specificity values, ranging from 0.804651 to 0.972093, presenting their capabilities as differential SNPs that can distinguish a person with or without alcohol-induced flushing syndrome. Maneuvering these candidate SNPs as well as finding additional potential markers through future studies will help building an appropriate prediction model for Koreans that can be used as supplementary tool for individual identification.
Alcohols ; Aldehyde Dehydrogenase ; Asian Continental Ancestry Group ; Chromosomes, Human, Pair 12 ; DNA ; Flushing ; Humans ; Hypersensitivity ; Microfluidics ; Polymorphism, Single Nucleotide ; Sensitivity and Specificity

BACKGROUND: Mitochondrial heteroplasmy, the co-existence of different mitochondrial polymorphisms within an individual, has various forensic and clinical implications. But there is still no guideline on the application of massively parallel sequencing (MPS) in heteroplasmy detection. We present here some critical issues that should be considered in heteroplasmy studies using MPS. METHODS: Among five samples with known innate heteroplasmies, two pairs of mixture were generated for artificial heteroplasmies with target minor allele frequencies (MAFs) ranging from 50% to 1%. Each sample was amplified by two-amplicon method and sequenced by Ion Torrent system. The outcomes of two different analysis tools, Torrent Suite Variant Caller (TVC) and mtDNA-Server (mDS), were compared. RESULTS: All the innate heteroplasmies were detected correctly by both analysis tools. Average MAFs of artificial heteroplasmies correlated well to the target values. The detection rates were almost 90% for high-level heteroplasmies, but decreased for low-level heteroplasmies. TVC generally showed lower detection rates than mDS, which seems to be due to their own computation algorithms which drop out some reference-dominant heteroplasmies. Meanwhile, mDS reported several unintended low-level heteroplasmies which were suggested as nuclear mitochondrial DNA sequences. The average coverage depth of each sample placed on the same chip showed considerable variation. The increase of coverage depth had no effect on the detection rates. CONCLUSION: In addition to the general accuracy of the MPS application on detecting heteroplasmy, our study indicates that the understanding of the nature of mitochondrial DNA and analysis algorithm would be crucial for appropriate interpretation of MPS results.
Computational Biology ; DNA, Mitochondrial* ; Gene Frequency ; High-Throughput Nucleotide Sequencing* ; Methods ; Sequence Analysis, DNA

Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean population and to assess the applicability of this finding to build a prediction model as forensic DNA phenotyping tool to operate in practical forensic cases. Five hundred seventy unrelated Koreans were genotyped using microfluidic technology with 24 possible candidate single nucleotide polymorphism (SNP) markers. Of the 24 candidate SNPs, four markers, rs671, rs2074356, rs4646776, and rs10849915, on chromosome 12 showed statistically significant association with P-values ranging from 1.39×10⁻¹⁴ to 0.004988 among our subjects. All four markers show relatively high specificity values, ranging from 0.804651 to 0.972093, presenting their capabilities as differential SNPs that can distinguish a person with or without alcohol-induced flushing syndrome. Maneuvering these candidate SNPs as well as finding additional potential markers through future studies will help building an appropriate prediction model for Koreans that can be used as supplementary tool for individual identification.

PURPOSE: Macrolide-resistant Mycoplasma pneumoniae pneumonia (MPP) is characterized by prolonged fever and radiological progression despite macrolide treatment. Few studies have examined serum procalcitonin (PCT) level in children with MPP. We aimed to investigate the association of acute inflammation markers including PCT with clinical parameters in children with MPP. METHODS: A total of 147 children were recruited. The diagnosis of MPP relied on serial measurement of IgM antibody against mycoplasma and/or polymerase chain reaction. We evaluated the relationships between C-reactive protein (CRP), PCT, and lactate dehydrogenase (LDH) levels and white blood cell (WBC) counts, and clinical severity of the disease. We used multivariate logistic regression analysis to estimate the odds ratio for prolonged fever (>3 days after admission) and hospital stay (> 6 days), comparing quintiles 2–5 of the PCT levels with the lowest quintile. RESULTS: The serum PCT and CRP levels were higher in children with fever and hospital stay than in those with fever lasting ≤ 3 days after admission and hospital stay ≤ 6 days. CRP level was higher in segmental/lobar pneumonia than in bronchopneumonia. The LDH level and WBC counts were higher in children with fever lasting for >3 days before compared to those with fever lasting for ≤ 3 days. The highest quintile of PCT levels was associated with a significantly higher risk of prolonged fever and/or hospital stay than the lowest quintile. CONCLUSION: Serum PCT and CRP levels on admission day were associated with persistent fever and longer hospitalization in children with MPP.
Bronchopneumonia ; C-Reactive Protein ; Child* ; Diagnosis ; Drug Resistance ; Fever* ; Hospitalization ; Humans ; Immunoglobulin M ; Inflammation ; L-Lactate Dehydrogenase ; Length of Stay ; Leukocytes ; Logistic Models ; Mycoplasma pneumoniae ; Mycoplasma* ; Odds Ratio ; Pneumonia ; Pneumonia, Mycoplasma* ; Polymerase Chain Reaction ; Risk Factors*

Epstein-Barr virus (EBV) infection can be presented with various clinical manifestations and different levels of severity when infected. Infectious mononucleosis, which is most commonly caused by EBV infection in children and adolescents, is a clinical syndrome characterized by fatigue, malaise, fever, sore throat, and generalized lymphadenopathy. But rarely, patients with infectious mononucleosis may present with gastrointestinal symptoms and complicated by gastritis, splenic infarction, and splenic rupture. We encountered a 16-year-old girl who presented with fever, fatigue, and epigastric pain. Splenic infarction and EBV-associated gastritis were diagnosed by using esophagogastroduodenoscopy and abdominal computed tomography. Endoscopy revealed a generalized hyperemic nodular lesion in the stomach, and the biopsy findings were chronic gastritis with erosion and positive in situ hybridization for EBV. As splenic infarction and acute gastritis are rare in infectious mononucleosis and are prone to be overlooked, we must consider these complications when an infectious mononucleosis patient presents with gastrointestinal symptom.
Adolescent ; Biopsy ; Child ; Endoscopy ; Endoscopy, Digestive System ; Epstein-Barr Virus Infections ; Fatigue ; Female ; Fever ; Gastritis* ; Herpesvirus 4, Human* ; Humans ; In Situ Hybridization ; Infectious Mononucleosis ; Lymphatic Diseases ; Pharyngitis ; Splenic Infarction* ; Splenic Rupture ; Stomach