This study was conducted to assess the relationship between estimated glomerular filtration rate (eGFR) and bone mineral density (BMD) in Korean postmenopausal women with mild renal dysfunction. A total of 328 postmenopausal women who underwent BMD measurement during health check-up was investigated. BMD was measured in lumbar spine (L1-L4), femoral neck, total proximal femur and femoral trochanteric areas by dual energy radiography absorptiometry and renal function was estimated by eGFR using Cockcroft-Gault equation. Of the 328 subjects, 317 (96.6%) had an eGFR > or =60 mL/min/1.73 m2. By using simple linear regression analysis, age, height, weight and eGFR were significantly associated with BMD for the 4 aforementioned anatomic sites, while serum levels of creatinine and blood urea nitrogen did not influence BMD. When multiple regression analyses were applied, age and body weight still had significant associations with BMD at 4 different anatomic sites (P < 0.001). A significant association of eGFR with BMD remained in the lumbar spine, femoral neck and proximal total femur (P < 0.05) but not in the trochanteric area (P = 0.300). Our study suggests that a decline of renal function is associated with lower BMD in the lumbar spine, femoral neck and total proximal femur areas in Korean menopausal women with mild renal dysfunction.
Absorptiometry, Photon ; Aged ; Blood Urea Nitrogen ; *Bone Density ; Creatinine/blood ; Female ; Femur Neck/physiology ; *Glomerular Filtration Rate ; Humans ; Kidney Diseases/*physiopathology ; Kidney Function Tests ; Lumbar Vertebrae/physiology ; Middle Aged ; Osteoporosis, Postmenopausal/*physiopathology ; Republic of Korea

Congenital cystic adenomatoid malformation(CCAM) is one of the most common congenital lung lesions. Clinical manifestations that show are neonatal respiratory distress, recurrent respiratory infection, pneumothorax, and hemothorax. But, there are patients who are asymptomatic until mid-childhood. The treatment of asymptomatic CCAM is controversial. There is a possibility to resolve it spontaneously, but late complications such as recurrent pulmonary infection, pneumothorax, hemothorax, and cancer, which includes bronchoalveolar carcinoma and rhabdomyocarcinoma, pleuropulmonary blastoma still remain. Some investigators advocate routine surgery for all cases of CCAM that are apparent at birth. A previously healthy 16-months-old girl who had suffered from a cough for 2 weeks was transferred to Asan Medical Center with CCAM. Due to a chest CT and fever, we first thought that she had CCAM with infection. After we treated her with antibiotics for one week, we performed surgery to confirm the diagnosis and to prevent further complication. But by surgical wedge resection, a pleuropulmonary blastoma was found. There were no evidence of metastasis and adjacent involvement. She started her chemotherapy with vincristine, actinomycin D and cyclophosphamide, and is now continuing maintenance chemotherapy with etoposide, vincristine, and Ifosfamide. We report pleuropulmonary blastoma that presented as CCAM. So we recommend surgical resection in asymptomatic CCAM to confirm the diagnosis and to prevent its malignant transformation, even not accompanied by symptoms.
Anti-Bacterial Agents ; Child ; Chungcheongnam-do ; Cough ; Cyclophosphamide ; Cystic Adenomatoid Malformation of Lung, Congenital* ; Dactinomycin ; Diagnosis ; Drug Therapy ; Etoposide ; Female ; Fever ; Hemothorax ; Humans ; Ifosfamide ; Lung ; Maintenance Chemotherapy ; Neoplasm Metastasis ; Parturition ; Pneumothorax ; Research Personnel ; Tomography, X-Ray Computed ; Vincristine

Hepatocellular carcinoma (HCC) is one of the most common malignant cancers closely associated with chronic infection by the hepatitis B virus (HBV) or the hepatitis C virus (HCV) throughout the world. In this study, the genetic associations of 20 known polymorphisms in eight candidate genes, including angiotensinogen (AGT), cadherin 1 (CDH1), cyclooxygenase 2 (COX2), monocyte chemotactic protein-1 (MCP1), multidrug resistance 1 (MDR1), chemokine ligand 5 (RANTES), thrombospondin 2 (THBS2), and thrombospondin 4 (THBS4), were analyzed in a large chronic hepatitis B cohort (n=1,095) recruited from the Korean population. In addition, three polymorphisms in chemokine receptor 4 (CXCR4) and vimentin (VIM) identified in this study were also genotyped. Using logistic regression analysis controlling possible confounding factors, one common (freq.=0.367) promoter polymorphism of MCP1 (MCP1-2518G>A) among analyzed polymorphisms was significantly associated with clearance of HBV infection. The frequency of homozygotes for the MCP1-2518A allele (MCP1-2518A/A) among chronic hepatitis B virus (HBV) carrier patients was significantly higher than that among spontaneously recovered (SR) subjects (17.7% vs. 10.4%)(OR=1.78, P=0.004). Our findings imply a plausible explanation for the contribution of host genetic determinants to the variable outcome of HBV infection, which might provide valuable information for future genetic study in this area.
Promoter Regions (Genetics)/*genetics ; Polymorphism, Genetic/*genetics ; Middle Aged ; Male ; Humans ; Hepatitis B virus/*physiology ; Hepatitis B/complications/*genetics/therapy/*virology ; Haplotypes/genetics ; Female ; Chemokine CCL2/*genetics ; Carcinoma, Hepatocellular/epidemiology/etiology/genetics/virology ; Aged, 80 and over ; Aged ; Adult

PURPOSE: UGT1A1, UGT2B7, and UGT2B15 are well-known pharmacogenes that belong to the uridine diphosphate glucuronyltransferase gene family. For personalized drug treatment, it is important to study differences in the frequency of core markers across various ethnic groups. Accordingly, we screened single nucleotide polymorphisms (SNPs) of these three genes and analyzed differences in their frequency among five ethnic groups, as well as attempted to predict the function of novel SNPs. MATERIALS AND METHODS: We directly sequenced 288 subjects consisting of 96 Korean, 48 Japanese, 48 Han Chinese, 48 African American, and 48 European American subjects. Subsequently, we analyzed genetic variability, linkage disequilibrium (LD) structures and ethnic differences for each gene. We also conducted in silico analysis to predict the function of novel SNPs. RESULTS: A total of 87 SNPs were detected, with seven pharmacogenetic core SNPs and 31 novel SNPs. We observed that the frequencies of UGT1A1 *6 (rs4148323), UGT1A1 *60 (rs4124874), UGT1A1 *93 (rs10929302), UGT2B7 *2 (rs7439366), a part of UGT2B7 *3 (rs12233719), and UGT2B15 *2 (rs1902023) were different between Asian and other ethnic groups. Additional in silico analysis results showed that two novel promoter SNPs of UGT1A1 -690G>A and -689A>C were found to potentially change transcription factor binding sites. Moreover, 673G>A (UGT2B7), 2552T>C, and 23269C>T (both SNPs from UGT2B15) changed amino acid properties, which could cause structural deformation. CONCLUSION: Findings from the present study would be valuable for further studies on pharmacogenetic studies of personalized medicine and drug response.
Asian Continental Ancestry Group/genetics ; European Continental Ancestry Group/genetics ; Female ; Gene Frequency/genetics ; Glucuronosyltransferase/*genetics ; Haplotypes/genetics ; Humans ; Linkage Disequilibrium/genetics ; Male ; Polymorphism, Single Nucleotide/*genetics

Acute stent thrombosis after percutaneous coronary intervention (PCI) is still problematic because of the subsequent development of myocardial infarction and poor prognosis. The incidence of acute stent thrombosis, occurring within 0-24hours after PCI, is relatively low, but underlying causes and treatment strategy are not well defined. Multi-vessel disease, ST-elevated myocardial infarction (STEMI), and large thrombotic burden are known risk factors of acute stent thrombosis. Thrombus aspiration, balloon angioplasty and glycoprotein IIb/IIIa receptor blocker could be therapeutic options. Recently we experienced two cases of acute stent thrombosis which developed during PCI with the aggravation of chest pain, and acute stent thrombosis were diagnosed immediately and successfully treated. Here we report two cases of acute stent thrombosis during PCI for one patient with STEMI and the other with acute coronary syndrome, which were successfully treated with thrombus aspiration and intravenous infusion of glycoprotein IIb/IIIa receptor blocker.
Acute Coronary Syndrome* ; Angioplasty, Balloon ; Chest Pain ; Coronary Thrombosis ; Glycoproteins ; Humans ; Incidence ; Infusions, Intravenous ; Myocardial Infarction ; Percutaneous Coronary Intervention ; Prognosis ; Risk Factors ; Stents* ; Thrombosis*

It is known that there is a marked variation in the frequency of variant angina attacks according to the circadian rhythm. The attack frequency is usually highest in the early morning and lowest in the afternoon. We describe here a middle-aged woman with variant angina whose chest pain occurred only during daytime. Because of her job, she sleeps from noon to 6 pm, and she experienced chest pain only during 2 to 3 pm. These findings suggest that the alterations to the sleep and wake cycle can affect the circadian variation of variant angina.
Chest Pain ; Circadian Rhythm ; Female ; Humans

Given the CYP3A4 and CYP3A5's impact on the efficacy of drugs, the genetic backgrounds of individuals and populations are regarded as an important factor to be considered in the prescription of personalized medicine. However, genetic studies with Korean population are relatively scarce compared to those with other populations. In this study, we aimed to identify CYP3A4/5 polymorphisms and compare the genotype distributions among five ethnicities. To identify CYP3A4/5 SNPs, we first performed direct sequencing with 288 DNA samples which consisted of 96 Koreans, 48 European-Americans, 48 African-Americans, 48 Han Chinese, and 48 Japanese. The direct sequencing identified 15 novel SNPs, as well as 42 known polymorphisms. We defined the genotype distributions, and compared the allele frequencies among five ethnicities. The results showed that minor allele frequencies of Korean population were similar with those of the Japanese and Han Chinese populations, whereas there were distinct differences from European-Americans or African-Americans. Among the pharmacogenetic markers, frequencies of CYP3A4*1B (rs2740574) and CYP3A5*3C (rs776742) in Asian groups were different from those in other populations. In addition, minor allele frequency of CYP3A4*18 (rs28371759) was the highest in Korean population. Additional in silico analysis predicted that two novel non-synonymous SNPs in CYP3A5 (+27256C>T, P389S and +31546T>G, I488S) could alter protein structure. The frequency distributions of the identified polymorphisms in the present study may contribute to the expansion of pharmacogenetic knowledge.
Asian Continental Ancestry Group ; Computer Simulation ; Cytochrome P-450 Enzyme System ; DNA ; Gene Frequency ; Genotype ; Humans ; Precision Medicine ; Mass Screening* ; Pharmacogenetics ; Polymorphism, Genetic* ; Polymorphism, Single Nucleotide ; Prescriptions

Interleukin 10 (IL10) is a powerful TH2-cell cytokine that inhibits lymphocyte replication and secretion of inflammatory cytokines. The genetic associations of polymorphisms in IL10 with clinical manifestations of tuberculosis (TB) were examined in a large number of patients with clinical TB infection (n=459) and normal controls (n=871). One common promoter SNP (IL10 -592 A>C) was found to be significantly associated with decreased risk of TB manifestation. The frequency of the "C"-bearing genotype was higher in normal controls than in patients with clinical TB infection (P=0.005, OR=0.69). A summary of the genetic effect of IL10 -1082 A>G, the other nearby promoter SNP, in other ethnic groups is also presented.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; *Genetic Predisposition to Disease ; Genotype ; Humans ; Interleukin-10/*genetics ; Korea ; Middle Aged ; Polymorphism, Single Nucleotide ; Research Support, Non-U.S. Gov't ; Risk ; Tuberculosis, Pulmonary/*genetics

Transforming growth factor-b1 (TGF-beta 1) can act as both a tumor suppressor and a stimulator of tumor progression. We have examined the relationship between polymorphisms of the TGF-beta 1 gene and the risk of hepatocellular carcinoma (HCC) in patients with chronic hepatitis B virus (HBV) infection. A total of 1,237 Korean subjects were prospectively enrolled; 1,046 patients with chronic HBV infection and 191 healthy controls with no evidence of recent or remote HBV infection. The patients were divided into two groups: those without (n=809) and those with HCC (n=237). Single nucleotide polymorphisms (SNPs) of TGF-beta 1 were searched for and genotyped using the single base extension method. In Korean subjects, only two SNPs were found among the seven known polymorphisms of TGF-beta 1, at position -509 and in codon 10. The risk of HCC was significantly lower in patients with the T/T or C/T genotypes than in those with the C/C genotypes at position -509 (P<0.02), and also lower among those with the Pro/Pro or Leu/Pro genotypes than in those with the Leu/Leu genotypes in codon 10 (P<0.007). Haplotype analysis revealed that the possession of [-509C>T; L10P] conferred a decreased likelihood of HCC (OR=0.74; 95% CI, 0.59-0.93; P=0.008). In conclusion, the presence of the TGF-beta 1 -509C>T promoter or of the L10P polymorphism, and the combination of both [-509C>T; L10P] as a haplotype were strongly associated with a reduced risk of HCC in patients with chronic HBV infection.
Adult ; Aged ; Carcinoma, Hepatocellular/etiology/*genetics ; Female ; Hepatitis B/complications/*genetics ; Human ; Liver Neoplasms/etiology/*genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/*genetics ; Risk Factors ; Transforming Growth Factor beta/*genetics ; Variation (Genetics)

Interleukin 6 (IL6) plays an essential role in the regulation of immune response to chronic disease. In this study, the three known single nucleotide polymorphisms (SNPs) in the IL6 promoter region were genotyped in a large chronic hepatitis B cohort to evaluate the effects of IL6 promoter variants. The single base extension method was used for this genotyping. Haplotypes were constructed by the three SNPs in IL6. Allele frequencies were compared for; i) patients with chronic hepatitis (CH) and chronic carriers vs. chronic hepatis patients with clinical evidence of liver cirrhosis (LC) (i.e., portal hypertension), ii) cirrhotic patients with hepatocellular carcinoma (HCC) vs. without HCC by logistic regression, and iii) with respect to the time intervals from the onset of infection to HCC. Results were analyzed by Cox relative hazard analysis on the assumption that all the patients were infected during early infancy. The frequencies of each SNP were 0.002 (IL6-597 G>A), 0.25 (IL6-572 C>G) and 0.002 (IL6-174 G>C), respectively, in the Korean population (n = 1,046). No significant associations were detected between IL6-572 C>G and chronic hepatitis B outcome in this study; i.e., chronic hepatitis B outcome in this study; i.e., LC occurrence on CH (OR = 0.16-1.27, P = 0.13- 0.71) and HCC occurrence on LC (OR = 1.04-1.23, P = 0.89-0.60) of heterozygotes and homozygotes for G allele in referent comparison to homozygotes for common allele (C/C genotype), and time interval to HCC (RH = 0.67-1.00; P = 0.14-0.99). In conclusion, there appeared to be no significant associations between IL6 promoter variants and disease outcome in chronic hepatitis B.
Aged ; Alleles ; Asian Continental Ancestry Group/genetics ; Female ; Haplotypes/genetics ; Hepatitis B, Chronic/*genetics ; Human ; Interleukin-6/*genetics ; Korea ; Linkage Disequilibrium ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Promoter Regions (Genetics)/*genetics ; Variation (Genetics)/*genetics