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Emphysema is an important feature of chronic obstructive pulmonary disease (COPD). Genetic factors likely affect emphysema pathogenesis, but this question has predominantly been studied in those of European ancestry. In this study, we sought to determine genetic components of emphysema severity and characterize the potential function of the associated loci in Korean population. We performed a genome-wide association study (GWAS) on quantitative emphysema in subjects with or without COPD from two Korean COPD cohorts. We investigated the functional consequences of the loci using epigenetic annotation and gene expression data. We also compared our GWAS results with an epigenome-wide association study and previous differential gene expression analysis. In total, 548 subjects (476 [86.9%] male) including 514 COPD patients were evaluated. We identified one genome-wide significant SNP (P < 5.0 × 10–8), rs117084279, near PIBF1. We identified an additional 57 SNPs (P < 5.0 × 10–6) associated with emphysema in all subjects, and 106 SNPs (P < 5.0 × 10–6) in COPD patients. Of these candidate SNPs, 2 (rs12459249, rs11667314) near CYP2A6 were expression quantitative trait loci in lung tissue and a SNP (rs11214944) near NNMT was an expression quantitative trait locus in whole blood. Of note, rs11214944 was in linkage disequilibrium with variants in enhancer histone marks in lung tissue. Several genes near additional SNPs were identified in our previous EWAS study with nominal level of significance. We identified a novel SNP associated with quantitative emphysema on CT. Including the novel SNP, several candidate SNPs in our study may provide clues to the genetic etiology of emphysema in Asian populations. Further research and validation of the loci will help determine the genetic factors for the development of emphysema. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to demonstrate a negative association between intraocular pressure (IOP) and age in 2 Asian populations. In addition, we evaluated genetic and nongenetic factors associated with IOP., Design: Family-based cohort study., Participants: Study subjects >10 years of age from one Korean (The Healthy Twin; n = 1431) and 2 Mongolian populations (The GENDISCAN; n = 859 and 806) with IOP values., Methods: The IOP values were measured with a noncontact tonometer. Each participant received a standard health examination and received questionnaires, which include candidate risk factors on IOP. Mixed models were used to identify risk factors for IOP. Variance-component methods were applied to estimate the heritability of IOP., Main Outcome Measures: The negative trend of IOP with aging and evaluation of impact of genetic and nongenetic components on IOP., Results: The mean ages were 43.6, 34.1, and 36.3 years for the Korean, Orhontuul, and Dashbalbar populations, respectively. The mean IOPs were 14.4 mmHg (95% confidence interval [CI], 14.3-14.6) in the Koreans and 14.1 mmHg (95% CI, 13.9-14.3) and 12.6 mmHg (95% CI, 12.4-12.9) in the Orhontuul and Dashbalbar populations, respectively. In the 3 populations, the IOP decreased as age increased. We replicated an association of systolic blood pressure (SBP) with IOP. In addition, components of the metabolic syndrome (MS), such as plasma glucose, lipid level, and body mass index, showed positive associations with IOP, after adjusting for age and SBP. The IOP also had strong genetic contributions in all populations (heritability, 0.47-0.51)., Conclusions: Negative associations between age and IOP were observed in all 3 populations, which cannot be explained by the increasing prevalence of myopia in the younger generation. The different age trend in IOP may in part be responsible for differences in the prevalence of glaucoma subtypes. Our findings suggest that associations between IOP and MS components were independent of established risk factors such as SBP or age. In addition, the importance of inherited risks requires further genetic dissection of IOP determinants for biological understandings of underlying pathophysiology., (Copyright © 2012 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Five new dimeric ent-kauranoids, biexcisusins A-E (1-5), were isolated from the aerial parts of Isodon excisus. The structures and relative configurations of these compounds were determined on the basis of spectroscopic data interpretation. Of these, biexcisusins C-E (3-5) are dimeric ent-kaurane diterpenoids exhibiting an unprecedented linkage through a nine-membered lactone ring between two ent-kaurane subunits. Compounds 1-5 showed no inhibitory effects on the LPS-induced production of nitric oxide in murine macrophage RAW264.7 cells, up to a dose of 50 μM.

Recent advances in sequencing technologies have initiated an era of personal genome sequences. To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of northwest European origin, and a person from China. Here we provide a highly annotated, whole-genome sequence for a Korean individual, known as AK1. The genome of AK1 was determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.8x coverage), targeted bacterial artificial chromosome sequencing, and high-resolution comparative genomic hybridization using custom microarrays featuring more than 24 million probes. Alignment to the NCBI reference, a composite of several ethnic clades, disclosed nearly 3.45 million single nucleotide polymorphisms (SNPs), including 10,162 non-synonymous SNPs, and 170,202 deletion or insertion polymorphisms (indels). SNP and indel densities were strongly correlated genome-wide. Applying very conservative criteria yielded highly reliable copy number variants for clinical considerations. Potential medical phenotypes were annotated for non-synonymous SNPs, coding domain indels, and structural variants. The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks.

Bioactivity-guided fractionation of the methanolic extract of the rhizomes of Imperata cylindrica afforded a new compound, 5-hydroxy-2-(2-phenylethyl)chromone (1), together with three known compounds, 5-hydroxy-2-[2-(2-hydroxyphenyl)ethyl]chromone (2), flidersiachromone (3), and 5-hydroxy-2-styrylchromone (4). Among these four compounds, 1 and 2 showed significant neuroprotective activity against glutamate-induced neurotoxicity in primary cultures of rat cortical cells.

Background: The Nuss procedure is a newly developed operative method for minimally invasive repair of pectus excavatum in pediatric patients. However, the surgical indication for this procedure has been extended into adult patients. The aim of this study was to assess the surgical outcome of the Nuss procedure in different age groups and to analyze its feasibility in the adult population., Methods: From December 1999 to March 2003, 51 patients (40 males and 11 females) with pectus excavatum underwent the Nuss procedure. We classified patients into three groups based on age (pediatric, adolescent, and adult), retrospectively analyzed demographic, intraoperative and postoperative data, and compared outcomes among each group., Results: Mean operation time was 52.0 +/- 22.9 minutes, 80.4 +/- 27.4 minutes, and 127.3 +/- 44.9 minutes in the pediatric, adolescent, and adult groups, respectively (p < 0.001). Postoperative complications occurred in 3 of 27 patients (11.1%) in the pediatric group and in 7 of 12 patients (58.3%) in both the adolescent and adult groups (p = 0.002). Reoperations were performed due to complications in 1 of 27 patients (3.7%) in the pediatric group, 2 of 12 patients (16.6%) in the adolescent group, and 5 of 12 patients (41.7%) in the adult group (p = 0.001)., Conclusions: The Nuss procedure is highly recommended in pediatric patients with pectus excavatum. However, in adults it is necessary to select patients carefully because of the longer operation time and higher incidence of complications associated with the procedure in this population.

Objective: The purpose of this study was to evaluate the effects of SP6 acupressure on labor pain and delivery time in women in labor., Design: Randomized clinical trial., Setting/location: Delivery room in a university hospital., Participants: Seventy-five (75) women in labor were randomly assigned to either the SP6 acupressure (n = 36) or SP6 touch control (n = 39) group. The participants were matched according to parity, cervical dilation, labor stage, rupture of amniotic membrane, and husband's presence during labor. There were no additional oxytocin augmentation or administration of analgesics during the study period., Intervention: The 30-minute acupressure or touch on SP6 acupoint was performed., Outcome Measures: Labor pain was measured four times using a structured questionnaire, a subjective labor pain scale (visual-analogue scale [VAS]): before intervention, immediately after the intervention, and 30 and 60 minutes after the intervention. Length of delivery time was calculated in two stages: from 3 cm cervical dilation to full cervical dilatation, and full cervical dilatation to the delivery., Results: There were significant differences between the groups in subjective labor pain scores at all time points following the intervention: immediately after the intervention (p = 0.012); 30 minutes after the intervention (p = 0.021); and 60 minutes after the intervention (p = 0.012). The total labor time (3 cm dilatation to delivery) was significantly shorter in the SP6 acupressure intervention group than in the control group (p = 0.006)., Conclusions: These findings showed that SP6 acupressure was effective for decreasing labor pain and shortening the length of delivery time. SP6 acupressure can be an effective nursing management for women in labor.