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The new allele A*02:465 showed one nucleotide difference with A*02:06:01 (172G>A)., (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

HLA-C*08:78 differs from C*08:01:01 by a nonsynonymous mutation at codon 239 (GGA to AGA) in exon 4., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The C*06:99 allele substitutes one nucleotide of C*06:02:01:01 at codon 50 (CCG→CTG), Pro to Leu., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The sequence of the C*03:02:02:03 differs from that of C*03:02:02:01 by one nucleotide substitution in the 5' UTR at position -57 (C>A)., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Purpose: To determine whether earlier intervention was associated with decreased mortality in critically ill cancer patients admitted to an intensive care unit (ICU)., Methods: A retrospective observational study was performed of 199 critically ill cancer patients admitted to the ICU from the general ward between January 2010 and December 2010. A logistic regression model was used to adjust for potential confounding factors in the association between time to intervention and in-hospital mortality., Results: In-hospital mortality was 52 %, with a median Simplified Acute Physiology Score 3 (SAPS 3) of 80 [interquartile range (IQR) 67-93], and a median Sequential Organ Failure Assessment (SOFA) score of 8 (IQR 5-11). Median time from physiological derangement to intervention (time to intervention) prior to ICU admission was 1.5 (IQR 0.6-4.3) h. Median time to intervention was significantly shorter in survivors than in non-survivors (0.9 vs. 3.0 h; p < 0.001). Additionally, the mortality rates increased significantly with increasing quartiles of time to intervention (p < 0.001, test for trend). Other factors associated with in-hospital mortality were severity of illness, performance status, hematologic malignancy, stem-cell transplantation, presence of three or more abnormal physiological variables, time from derangement to ICU admission, presence of infection, need for mechanical ventilation and vasopressor, and low PaO(2)/FiO(2) ratio. Even after adjusting for potential confounding factors, time to intervention was still significantly associated with hospital mortality (adjusted odds ratio 1.445, 95 % confidence interval 1.217-1.717)., Conclusions: Early intervention before ICU admission was independently associated with decreased in-hospital mortality in critically ill cancer patients admitted to the ICU.

The proportion of never smoker non-small cell lung cancer (NSCLC) in Asia is about 30-40%. Despite the striking demographics and high prevalence of never smoker NSCLC, the exact causes still remain undetermined. Although several genome wide association (GWA) studies were conducted to find susceptibility loci for lung cancer in never smokers, no regions were replicated except for 5p15.33, suggesting locus heterogeneity and different environmental toxic effects. To identify genetic loci associated with susceptibility of lung cancer in never smokers, we performed a GWA analysis using the Affymetrix 6.0 SNP array. For discovery GWA set, we recruited 446 never smoking Korean patients with NSCLC and 497 normal subjects. We tested association of SNPs with lung cancer susceptibility using the Cochran-Armitage trend test. For validation, 39 SNPs were selected from the top 50 SNPs and five additional SNPs were selected in the DAB1 gene region which showed significant associations in the GWA analysis. The validation SNPs were genotyped in an independent sample including 434 patients and 1,000 controls. Among the 44 validation SNPs, two SNPs (rs11080466 and rs11663246) near the APCDD1, NAPG and FAM38B genes in the 18p11.22 region were replicated. P value of rs11080466 was 1.08 × 10(-6) in the combined sets (2.68 × 10(-5) in the discovery set and 2.60 × 10(-3) in the validation set) and odds ratio was 0.68 (0.58-0.79). We observed similar association for rs11663246. Our result suggests the 18p11.22 region as a novel lung cancer susceptibility locus in never smokers.

The purpose of this study was to evaluate the prognostic significance of classification of patients with septic shock into different critical illness-related corticosteroid insufficiency subgroups. A retrospective observational study was conducted in patients with septic shock who underwent a short corticotropin stimulation test within 72 h of the onset of shock. Patients were classified into normal adrenal function (NOM), low basal cortisol (LBC) (basal cortisol, <10 μg/dL), or low Δ cortisol (LDC) (basal cortisol, ≥10 μg/dL; cortisol, <9 μg/dL) groups. A total of 168 septic shock patients were recruited. Forty-two patients (25%) were assigned to the NOM group, 39 (23.2%) to the LBC group, and 87 (51.8%) to the LDC group. All of the patients received hydrocortisone therapy. Patients in the LDC group had significantly higher Simplified Acute Physiology Score 3 (P < 0.001) and Sequential Organ Failure Assessment score (P < 0.001) than did patients in the NOM group. The 28-day mortalities of the NOM, LBC, and LDC groups were 40.5%, 38.5%, and 63.2%, respectively (P = 0.007). Classification into the LDC group significantly increased the odds of 28-day mortality (odds ratio, 2.717; 95% confidence interval, 1.452-5.082; P = 0.002) and remained an independent risk factor for mortality even after controlling for all the other potential risk factors identified (odds ratio, 3.638; 95% confidence interval, 1.418-9.028; P = 0.006). Classification into the LDC group is an independent risk factor for mortality in hydrocortisone-treated septic shock patients.

Major histocompatibility complex (MHC) class I chain-related gene B (MICB) is located within the human MHC class I region. The location of MICB in the MHC region may imply the presence of linkage disequilibrium with polymorphic MICA and human leukocyte antigen (HLA) loci. MICB is also polymorphic; however, MICB polymorphisms have not been investigated in Koreans. Using sequence-based typing (SBT), we estimated the allelic frequencies of MICB and haplotypes with MICA, HLA-B, and HLA-DRB1 at high resolution in a population of 139 unrelated Korean individuals. Eight MICB alleles were identified. The most frequent allele was MICB*005:02/*010 (57.2%), followed by *002 (11.5%), *004 (8.3%), *005:03 (8.3%), and *008 (6.8%). The most common two-locus haplotypes were MICB*005:02/*010-MICA*010 (19.4%), MICB*005:02/*010-DRB1*15:01 (6.5%), and MICB*005:02/*010-B*15:01 (10.4%); the most common three-locus haplotypes were B*15:01-MICA*010-MICB*005:02/*010 (5.8%) and MICA*010-MICB*005:02/*010-DRB1*04:06 (10.4%); and the most common four-locus haplotype was B*15:01-MICA*010-MICB*005:02/*010-DRB1*04:06 (5.8%). This is the first study to provide information about MICB allele frequencies and haplotypes with HLA in Koreans. These study results should help understand mechanisms of disease association between the MICB locus and neighboring loci in Koreans., (© 2011 John Wiley & Sons A/S.)

The new allele DQB1*05:06 showed one nucleotide difference with DQB1*05:03:01 at codon 40 (TTC/TTG)., (© 2011 John Wiley & Sons A/S.)

Purpose: The Simplified Acute Physiology Score (SAPS) 3 was recently proposed to reflect contemporary changes in intensive care practices. SAPS 3 features customized equations for the prediction of mortality in different geographic regions. However, the usefulness of SAPS 3 and its customized equation (Australasia SAPS 3) have never been externally validated in Korea. This study was designed to validate SAPS 3 and Australasia SAPS 3 for mortality prediction in Korea., Materials and Methods: A retrospective analysis of the prospective intensive care unit (ICU) registry was conducted in the medical ICU of Samsung Medical Center. Calibration and discrimination were determined by the Hosmer-Lemeshow test and area under the receiver operating characteristic (aROC) curve from 633 patients., Results: The mortalities (%) predicted by SAPS 3, Australasia SAPS 3, and SAPS II were 42 ± 28, 39 ± 27 and 37 ± 31, respectively. The calibration of SAPS II was poor (p = 0.003). SAPS 3 and Australasia SAPS 3 were appropriate (p > 0.05). The discriminative power of all models yielded aROC values less than 0.8., Conclusion: In Korea, mortality rates predicted using general SAPS 3 and Australasia SAPS 3 exhibited good calibration and modest discrimination. However, Australasia SAPS 3 did not improve the mortality prediction. To better predict mortality in Korean ICUs, a new equation may be needed specifically for Korea.

A new HLA-B*9587 showed one nucleotide difference from B*15010101 at nucleotide 127 with substitution G-->C (codon 19 GAG-->CAG) resulting in a coding change from Glu to Gln (E19Q).

A novel human leukocyte antigen-B allele, officially named B*512402, was identified in a Korean bone marrow donor. The B*512402 allele shows two nucleotide substitutions compared with B*512401 in exon 3 at codons 135 (GCG --> GCC) and 138 (ACC --> ACG) without any amino acid substitution.

A new human leukocyte antigen-Cw*0401 allele showed one nucleotide difference from Cw*04010101 in exon 3 at nucleotide position 561 (codon 163 ACG-->ACT) without a coding change.

This study was undertaken to evaluate the incidence and risk factors associated with relative adrenal insufficiency (RAI) in Korean critically-ill patients. All patients who were admitted to the Medical Intensive Care Unit (MICU) of Samsung Medical Center between January 1, 2006 and April 30, 2007 were prospectively evaluated using a short corticotropin stimulation test on the day of admission. RAI was defined as an increase in the serum cortisol level of <9 microg/dL from the baseline after administration of 250 microg of corticotropin. In all, 123 patients were recruited and overall the incidence of RAI was 44% (54/123). The presence of septic shock (P=0.001), the Simplified Acute Physiology Score (SAPS) II (P=0.003), the Sequential Organ Failure Assessment (SOFA) score (P=0.001), the mean heart rate (P=0.040), lactate levels (P=0.001), arterial pH (P=0.047), treatment with vasopressors at ICU admission (P=0.004), and the 28-day mortality (P=0.041) were significantly different between patients with and without RAI. The multivariate analysis showed that the SOFA score was an independent predictor of RAI in critically-ill patients (odd ratio=1.235, P=0.032). Our data suggest that RAI is frequently found in Korean critically-ill patients and that a high SOFA score is an independent predictor of RAI in these patients.

Background: Human leukocyte antigen (HLA) molecules are known to play an important role in host-defense mechanisms. The aim of this study was to evaluate the association between HLA alleles and lung disease caused by nontuberculous mycobacteria (NTM) in Korean patients., Methods: Seventy-eight patients with NTM lung disease (48 patients with Mycobacterium avium-intracellulare complex [MAC] infection and 30 patients with Mycobacterium abscessus infection) were included in the study. HLA-A, -B, and -DRB1 genotyping was performed by polymerase chain reaction using sequence-specific primers. Data from 485 healthy Korean individuals were used as a control., Results: When compared to controls, patients with NTM lung disease showed an increased frequency of DRB1*11 (OR = 1.91, 95% confidence interval [CI] = 1.01-3.64, p = 0.045, corrected p [pC] > 0.05). In the subgroup analysis, patients with MAC lung disease had an increased frequency of B*46 (OR = 2.23, 95% CI = 1.05-4.73, p = 0.044, pC > 0.05)., Conclusions: Our data suggest that in a Korean population, patients with NTM lung disease and healthy subjects differ in the frequencies of some HLA alleles. However, when considering corrected p values, our findings are inconclusive.

Microarray technology makes high-throughput genotyping possible by permitting the simultaneous analysis of large sets of genes on a small reaction slide. Human leukocyte antigen (HLA) loci showing high polymorphisms are suitable targets for microarray. In this study, we developed a microarray kit with newly designed oligonucleotide probes for the genotyping of HLA-A and -DRB1. In total, 42 probes were designed to hybridize to polymorphic sites for HLA-A and 36 for HLA-DRB1. Asymmetric polymerase chain reaction (PCR) using four primers was performed to amplify exon 2 of HLA-DRB1, whereas symmetric PCR was performed to amplify both exons 2 and 3 of HLA-A. Evaluation of performance using samples from 138 Koreans disclosed consistent microarray results with all sequence-based typing at the low-resolution level. Despite the occurrence of ambiguities in 35 HLA-A (25.4%) and 5 HLA-DRB1 (3.6%) cases, correct genotypes were assigned with high certainty by referring to allele distribution in Koreans. These data clearly indicate that our newly developed microarray kit is optimal in determining correct genotypes at the low-resolution level in Koreans.

Background and Purpose: Histiocytic necrotizing lymphadenitis (HNL) is a cervical lymphadenitis that occurs rarely in children. This study was conducted to identify the clinical characteristics of lymphadenitis in children and compare the clinical characteristics observed in children and adults., Subject and Methods: The clinical characteristics, diagnosis, treatment, and prognosis of the 20 patients 18 years of age or younger who were diagnosed with HNL based on histological tests conducted at Gyeongsang University Hospital from January 1998 to December 2006 were analyzed., Results: HNL affected males and females at a 1:1 ratio, but HNL was more common in boys (8:3) among the children and HNL affected more girls among the adolescents (2:7). Cervical lymphadenopathy was the main symptom. The antinuclear antibody test was positive in three patients. Two relapse cases were reported, but both patients recuperated within several months without complications., Conclusions: HNL affected males and females at an equal incidence (1:1). But HNL occurred more often in male children than in female children, and more often in female adolescents than in male adolescents. Relapse occurred in 10% of the cases. HNL could progress into systemic lupus erythematosus in the three cases that were ANA-positive. Thus, a long follow-up period is important.

Background: In previous studies, most hepatitis A virus (HAV) isolates had been genotype IA in Korea. Recently, a small number of different genotypes were reported with an upsurge of acute hepatitis by HAV. We investigated the distribution of HAV genotypes., Methods: RNA was extracted from anti-HAV IgM positive sera which were collected from March 2007 to February 2008 at a tertiary care hospital in Northeastern Seoul, Korea. Nested reverse transcription (RT)-PCR and direct sequencing for VP1/P2A region of the HAV were performed., Results: A total of 699 cases with suspected acute hepatitis were tested for anti-HAV IgM, and positive results were obtained in 56 sera (8.0%), which were collected 2 to 15 days (median, 7 days)after the onset of symptoms. Of the 56 seropositive samples, 52 (92.9%) were positive for HAV RNA, among which 28 isolates (53.8%) belonged to genotype IA and the remaining 24 (46.2%) belonged to genotype IIIA. Both IA and IIIA genotypes were isolated from 6-7 neighboring administrative districts throughout the year without geographic or seasonal restrictions., Conclusions: Co-circulation of two distinct HAV genotypes (IA and IIIA) was observed from the northeastern Seoul for the year studied.

This study evaluated the association between the guanine-thymine (GT) repeat polymorphism in intron II of the Toll-like receptor 2 (TLR2) gene and lung disease caused by nontuberculous mycobacteria (NTM). Polymerase chain reaction and gene scans were used to determine the numbers of GT repeats for 193 patients with the nodular bronchiectatic form of NTM lung disease, including 110 patients with Mycobacterium avium-intracellulare (MAC) infection, 82 patients with Mycobacterium abscessus infection, and 1 patient with co-infection of both organisms. These values were compared with the results for 191 controls. Genotypes with shorter GT repeats were more common among patients with NTM lung disease (50.8 vs 37.7%, p=0.01). In the subgroup analysis, genotypes that included S alleles were more common in the patients with MAC lung disease (53.6%, p=0.01, OR, 1.91; 95% CI, 1.16, 3.16) than in healthy controls, whereas this difference was not statistically significant in patients with M. abscessus lung disease (47.6%, p=0.13). In conclusion, these results suggest that the GT repeat microsatellite polymorphisms in intron II of the human TLR2 gene contribute to the development of NTM lung disease, especially MAC lung disease, in a Korean population.

Background: Multidrug-resistant (MDR) tuberculosis (TB) is more difficult to treat than is drug-susceptible TB. To elucidate the optimal therapy for MDR TB, we assessed the treatment outcomes and prognostic factors for patients with MDR TB., Methods: This study included patients who received an individualized treatment regimen for MDR TB at Samsung Medical Center, a tertiary referral hospital in Seoul, Korea, from January 1995 through December 2004. To identify the prognostic factors related to favorable treatment outcomes, univariate comparison and multiple logistic regression were performed., Results: Of 155 patients, 18 (12%) had newly diagnosed MDR TB, 81 (52%) had previously received treatment with first-line drugs, and 56 (36%) had received treatment with second-line drugs. The isolated strains were resistant to a median of 5 drugs. Twenty-seven patients (17%) had extensively drug-resistant (XDR) TB at the start of treatment. Outcome assessment revealed that 102 patients (66%) were cured or completed therapy. The treatment success rates did not differ significantly between patients with non-XDR MDR TB and those with XDR TB (66% vs. 67%). Surgical resection was performed more frequently for patients with XDR TB than for those with non-XDR MDR TB (48% vs. 17%). Combined surgical resection, body mass index >/=18.5 (calculated as the weight in kilograms divided by the square of the height in meters), use of >4 effective drugs, and a negative sputum smear result were independent predictors of a favorable outcome., Conclusions: Early aggressive treatment comprising at least 4 effective drugs and surgical resection, when indicated, may improve the outcome for patients with MDR TB or XDR TB.

A new HLA-B*4085 showed one nucleotide difference from B*400201 at the position 500 of exon 3, resulting in a coding change from Thr to Ile (T143I).

The pathway involving interferon-gamma and interleukin (IL)-12 plays an important role in host defense against mycobacterial infections. Recent studies have indicated that IL-12 receptor beta1 (IL-12Rbeta1) gene polymorphisms are associated with susceptibility to pulmonary tuberculosis. However, there have been no reports of an association between IL-12Rbeta1 gene polymorphism and lung disease caused by nontuberculous mycobacteria (NTM). The present study involved 128 patients with the nodular bronchiectatic form of NTM lung disease (75 patients with Mycobacterium avium-intracellulare complex infection and 53 patients with Mycobacterium abscessus infection) and 240 healthy controls. Single nucleotide polymorphisms of the IL-12Rbeta1 gene at positions +705A/G, +1158T/C, and +1196G/C were determined by direct sequencing of polymerase chain reaction products. Comparisons of the NTM lung disease patients with healthy controls did not identify any significant differences in relation to the genotype, allele, and haplotype frequencies of the IL-12Rbeta1 +705A/G, +1158T/C, and +1196G/C polymorphisms. These IL-12Rbeta1 gene polymorphisms do not appear to be responsible for host susceptibility to NTM lung disease, at least in this Korean population.

Type 2 diabetes is characterized by insulin resistance, and ENPP1 plays an important role in insulin resistance. We investigated the association of the ENPP1 K121Q polymorphism with both diabetes and obesity (body mass index [BMI]) in Korean male workers. The study design was case-control. Subjects were 1,945 male workers (type 2 diabetes, 195; non-diabetes, 1,750) of nuclear power plants who received examinations from March to October in 2004. We collected venous blood samples under fasting (> or =8 hr) conditions, calculated BMI by height and weight, and assessed relevant biochemical factors. The results of this study demonstrated that the ENPP1 121Q genotype (KQ+QQ types) was not associated with type 2 diabetes (odds ratios [OR], 0.854; 95% confidence interval [CI], 0.571-1.278) or obesity (OR, 0.933; 95% CI, 0.731-1.190). In addition, the frequency of the Q allele was not related to type 2 diabetes (OR, 0.911; 95% CI, 0.630-1.319) or obesity (OR, 0.962; 95% CI, 0.767-1.205). We concluded that the ENPP1 121Q allele is not a critical determinant for either diabetes or obesity in Korean males. The discordance between the results of this study and those derived from studies of Dominican, South Asian, Caucasian, Finnish, and French populations might be due to differences in genetic backgrounds between these populations.

This study investigated the potential role of vitamin D-receptor (VDR) gene polymorphisms in susceptibility to lung disease caused by non-tuberculous mycobacteria (NTM). TaqI and FokI polymorphisms were compared in 124 patients and 127 controls. The genotype, allele and haplotype frequencies did not differ between patients and controls. TaqI and FokI polymorphisms of the VDR gene do not appear to be responsible for host susceptibility to NTM lung disease, at least in this Korean population. An association cannot, however, be completely ruled out, as only two single nucleotide polymorphisms of the VDR gene were studied in this report.

A novel human leukocyte antigen-B*40 (HLA-B*40) allele was identified in the Korean population and designated HLA-B*4073. The HLA-B*4073 allele shows one nucleotide difference from B*400102 in exon 2 at nucleotide position 299 (A-->T), resulting in an amino acid change, Glu76Val.

A novel human leukocyte antigen (HLA) A*24 allele was identified in the Korean population and designated HLA-A*2475. The HLA-A*2475 allele shows one nucleotide difference from A*24020101 in exon 3 at nucleotide position 575 (T-->C), resulting in an amino acid change, Leu168Arg.

Background/aims: The risk of developing autoimmune hepatitis (AIH) has been suggested to be associated with the presence of HLA-DRB1 alleles encoding the 'shared epitope' at amino acid positions 67-72 in the third hypervariable region (HVR3) of DRbeta. We aimed to identify the specific HLA alleles that are susceptible to type 1 AIH in Koreans, and to validate the shared epitope hypothesis in this single ethnic group., Methods: Sixty-two adult patients with definite type 1 AIH and 154 healthy controls were enrolled. Alleles of HLA class I and II genes were genotyped using sequence-based typing., Results: By high-resolution analysis, the frequencies of DRB1 *0405 and DQB1 *0401 were significantly increased in patients with AIH (P = 0.0001, OR = 3.74; P = 0.00006, OR = 3.95, respectively). The six amino acid motif represented by the single letter code LLEQRR or LLEQKR at positions 67-72 of the DRbeta polypeptide was not sufficient to show an increased risk for the disease. Interestingly, the QRRAA motif at positions 70-74 was significantly increased in Korean patients (P=0.04, OR=1.84)., Conclusions: The shared epitope hypothesis may be extended to the amino acid motif at positions 70-74 of HLA-DRbeta in order to better predict the susceptibility to type 1 AIH.

A novel human leukocyte antigen, A*24 (HLA-A*24), was identified in the Korean population. HLA-A*2474 allele shows one nucleotide difference from A*24020101 in exon 2 at nucleotide position 186 (C --> A), resulting in an amino acid change, Ser38Arg.

Background and Objective: Many genetic variations are thought to be risk factors for the development of pulmonary tuberculosis (TB). The association of interferon-gamma (IFN-gamma) and IFN-gamma receptor 1 (IFN-gammaR1) gene polymorphisms with pulmonary TB is controversial. This study examined the association between IFN-gamma and IFN-gammaR1 gene polymorphisms and pulmonary TB among Koreans., Methods: Eighty patients with culture-confirmed pulmonary TB and 80 controls were studied. Polymorphisms of the IFN-gamma gene at position +874 were determined using the amplification refractory mutation system PCR assay, and the IFN-gammaR1 gene was genotyped at positions -611, -270, -56 and +95 employing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using genomic DNA., Results: The genotype and allele frequencies of the IFN-gamma and IFN-gammaR1 gene polymorphisms did not differ significantly between the patients with pulmonary TB and controls., Conclusions: The IFN-gamma and IFN-gammaR1 gene polymorphisms do not appear to be responsible for host susceptibility to pulmonary TB in the Korean population.

Tumor necrosis factor (TNF) is essential for host defense against Mycobacterium tuberculosis, and the risk of reactivation of latent tuberculosis infection (LTBI) increases with anti-TNF therapy. This study estimated the prevalence of LTBI and evaluated the safety and completion rate of short-course therapy with isoniazid plus rifampin for 3 months to treat LTBI in a cohort of Korean arthritis patients before initiating anti-TNF therapy. We retrospectively studied the files of 112 consecutive patients to evaluate LTBI before starting anti-TNF drugs. Screening tests were performed, including a tuberculin skin test and chest radiography. LTBI treatment was indicated in 41 patients (37%). Of these, three patients refused the LTBI treatment. Of the 38 patients who underwent LTBI treatment, 36 (95%) took isoniazid plus rifampin for 3 months. Six patients (16%) showed transient elevations of liver enzymes during the LTBI treatment. Overall, 35 patients (92%) completed the LTBI treatment as planned. In conclusion, LTBI was diagnosed in one-third of Korean arthritis patients before initiating anti-TNF therapy. A high percentage of these patients completed 3 months of LTBI treatment with isoniazid plus rifampin without serious complications.

The goals of this study were to identify first-line drug resistance in new and previously treated tuberculosis (TB) cases and to determine risk factors for multidrug resistant TB (MDR-TB) at a private referral center in Korea. All patients with culture confirmed pulmonary TB over a 2-yr period between July 2002 and June 2004 were prospectively included in this study. In total, 637 patients were included; 512 (80.4%) were new cases, and 125 (19.6%) were previously treated cases. Resistance to at least one first-line drug was identified in 11.7% of new cases and 41.6% of previously treated cases. MDR-TB was detected in 3.9% of new cases and 27.2% of previously treated cases. The proportion of extensively drug-resistant TB among MDR-TB patients was 16.7% (9/54). Factors associated with MDR-TB included age under 45 yr, previous TB treatment, and the presence of cavitation on chest radiography. Rates of first-line drug resistance are high, particularly in previously treated patients, in the private sector in Korea. This underscores the need for an improved control program, coupled with early diagnosis of MDR-TB, to reduce the spread and development of resistance.

A new human leukocyte antigen-DRB1*140503 differs from DRB1*140501 with T to C transition at codon 78 (TAT-->TAC) of exon 2 without coding change.

HLA-A*2632 shows three nucleotides difference with HLA-A*260101 and HLA-A*2624 in exon 3 at codon 95 (ATC--> ATG) and codon 97 (AGG --> GTG), resulting in two amino acids change from Ile to Met (I95M) and Arg to Val (R97V).

A new HLA-A*2634 allele differs from A*260101 by a change from C to T at the nucleotide 559 of exon 3, with a coding change R163W.

The novel HLA-B*5813 allele was identified in the cord blood of a Korean baby by sequence-based typing. This allele shows a sequence identical to that of HLA-B*5801, except for a nucleotide substitution that changes GAG to AAG at codon 128, resulting in an amino acid change from glutamic acid to lysine in the protein.

Here, we describe a case of a solitary pulmonary nodule due to Mycobacterium intracellulare infection. To the best of our knowledge, this is the first case reported in Korea. A 45-year- old female, exhibiting no respiratory symptoms, was admitted to our hospital due to the appearance of a solitary pulmonary nodule on a chest radiograph. Computed tomography revealed a 2.5 cm nodule with an irregular shape and some marginal spiculation in the right upper lobe. Positron emission tomography with fluorodeoxyglucose imaging revealed positive tumor uptake (maximum standardized uptake value=8.8). Bronchoscopy yielded no specific histological findings and no bacteriological findings. Percutaneous transthoracic lung biopsy revealed epithelioid granuloma but no acid-fast bacilli were detected. The patient received isoniazid, rifampin, ethambutol, and pyrazinamide for the treatment of "tuberculoma". Five weeks after the patient was admitted, numerous mycobacterial colonies were detected on a bronchial washing fluid culture. These colonies were subsequently identified as Mycobacterium intracellulare. A final diagnosis of M. intracellulare pulmonary disease was made, and the patient's treatment regimen was changed to a combination therapy consisting of clarithromycin, rifampin, and ethambutol.

Background: The purpose of this study was to evaluate the clinical usefulness of open lung biopsy (OLB) in patients undergoing mechanical ventilation for diffuse pulmonary infiltrates of unknown etiology., Methods: This was a 10-year retrospective study in a 10-bed medical intensive care unit. The medical records of 36 ventilator-dependent patients who underwent OLB for the diagnosis of unknown pulmonary infiltrates from 1994 to 2004 were reviewed retrospectively. Data analyzed included demographic data, Charlson age-comorbidity score, number of organ dysfunctions, Acute Physiology and Chronic Health Evaluation (APACHE) II, Simplified Acute Physiology Score (SAPS) II, Sequential Organ Failure Assessment (SOFA) score, ventilation variables, and radiological patterns. Diagnostic yield, effect on subsequent treatment changes, and complications of OLB were also assessed., Results: A specific clinico-pathologic diagnosis was obtained for 31 patients (86%). The most common diagnoses were interstitial pneumonia (n = 17, including 8 acute interstitial pneumonia) and viral pneumonia (n = 4). Therapeutic modifications were made in 64% of patients. Patients who received OLB less than 1 week after initiation of mechanical ventilation were more likely to survive (63% versus 11%; P = 0.018). There were no major complications associated with the procedure. Factors independently associated with survival were the Charlson age-comorbidity score, number of organ dysfunction and the PaO2/FiO2 ratio on the day of the OLB., Conclusion: OLB can provide a specific diagnosis in many ventilator-dependent patients with undiagnosed pulmonary infiltrate. Early OLB seems to be useful in critically ill patients with isolated respiratory failure.

In this study, we investigated the HLA allele and haplotype frequencies, and the association of HLA alleles with serious complications and angiographic findings in Korean patients with Takayasu arteritis (TA) compared with healthy controls. Sixty-one patients (56 women, 5 men), diagnosed with TA between January 1995 and December 2005, were studied. Ninety-five healthy men and women were selected as controls. Clinical manifestations were assessed and angiographies were performed at the time of diagnosis in all TA patients. Genotypes of the HLA-A, -B and -DRB1 loci were determined using the polymerase chain reaction-sequencing-based typing (PCR-SBT) method. The mean age at the time of diagnosis of TA was 37.0+/-12.1 years. Compared with controls, the frequencies of A*3001 (p=0.048), B*5201 (p=0.025), and DRB1*1502 (p=0.046) alleles were significantly higher in TA patients, and the frequency of A*2602 was significantly lower in TA patients when compared with controls (p=0.047). The haplotype containing A*2402-B*5201-DRB1*1502 was significantly increased in TA patients (chi2=5.45, p=0.01). Further, among the serious complication of TA, congestive heart failure (CHF) was found to be associated with B*5201 (OR=5.94, p<0.05, 95% CI=1.04 33.85). These data suggest that A*3001, B*5201, and DRB1*1502 alleles might increase the susceptibility to TA, while A*2602 might protect against TA. Further, our results reveal that the haplotype A*2402-B*5201-DRB1*1502 could be a risk factor for TA, and the allele B*5201 is significantly associated with CHF.

To investigate the occurrence of the Toll-like receptor 2 (TLR2) polymorphisms in patients with pulmonary disease caused by nontuberculous mycobacteria (NTM), TLR2 Arg677Trp and Arg753Gln polymorphisms were examined. TLR2 polymorphisms do not appear to be responsible for host susceptibility to NTM lung disease, at least in the Korean population.

The purpose of this study was to investigate the prognostic factors at initial presentation and the causes of death in Korean patients with idiopathic pulmonary fibrosis (IPF), which might be different report wise, in comparison to the western countries. A retrospective review of 88 patients (mean 60.3 years, 69 male) was carried out and they were diagnosed as IPF positive. After diagnosis, the survival rate was 57% and 41% for third and fifth year, respectively (mean follow-up 39.1 months). Mortality was closely correlated with severe dyspnea at presentation (Hazard Ratio [HR], 2.6 per grade; p=0.015), lower initial forced vital capacity (HR, 1.7 per 10% predicted; p=0.004) and lower initial diffusing capacity of the lung (HR, 1.5 per 10% predicted; p=0.033). Treatment with specific drugs was ineffective against the survival when compared with symptomatic supportive care. Thirty-four patients (68%) died of worsened respiratory failure, seven (14%) died of infection and only one patient showed cardiovascular death. In conclusion, our study suggests that the severity of dyspnea and lung function tests at the time of diagnosis are the predictive factors for the survival of patients with IPF. In comparison to the reports from western countries, we observed that respiratory failure and pulmonary infection were more frequent causes of death, while cardiovascular death was rare in Korean patients with IPF.