Nocardiosis is an uncommon, potentially life-threatening infectious disease caused by several species of the genus Nocardia, which are Gram-positive branched bacilli. Most infections enter through the respiratory tract and then disseminate systemically but rarely has a primary infection occurred resulting from direct inoculation. Isolation of Nocardia from clinical specimens and identification of species is difficult and require a specialized microbiologist. We report a case of primary cutaneous nocardiosis caused by N. brasiliensis in a 68-year-old man who was diagnosed by bacterial culture and 16S ribosomal RNA sequencing. The skin lesions improved with trimethoprim- sulfamethoxazole antibiotic therapy for 6 months.
Aged ; Communicable Diseases ; Humans ; Nocardia ; Nocardia Infections ; Respiratory System ; RNA, Ribosomal, 16S ; Skin ; Sulfamethoxazole

Congenital hypopituitarism is a possible cause of neonatal cholestasis, but the mechanism is still unknown. The pathogenesis of cholestasis may be due to hormone deficiency, which has effects on the physiological maturation of bile acid synthesis and transport. We experienced a case presenting with cholestasis and recurrent hypoglycemia associated with congenital hypopituitarism. Cholestasis resolved with thyroxine and hydrocortisone replacement therapy
Bile ; Cholestasis* ; Hydrocortisone ; Hypoglycemia ; Hypopituitarism* ; Thyroxine

Cinnabar is the mineral with mercury in combination with sulfur, and it has been used to make charms in China and Korea. If cinnabar is overheated, mercury vapor that is extremely hazardous or sometimes fatal can be released. We experienced 5 patients of a family who were exposed to mercury vapor when they burnt charms. One of them developed severe acute respiratory failure and the patient needed mechanical ventilation and extracorporeal membrane oxygenation (ECMO). Despite treatment with cortiocosteroid, D-penicillamine, ECMO and plasmapheresis, the radiologic findings of a patient worsened and he died.
Burns ; China ; Extracorporeal Membrane Oxygenation ; Humans ; Inhalation ; Korea ; Mercury Compounds ; Penicillamine ; Plasmapheresis ; Respiration, Artificial ; Respiratory Insufficiency ; Sulfur

PURPOSE: Central venous catheterization is widely used to supply substantial amounts of fluids, total parenteral nutrition and hemodialysis in renal failure patients, as well as for measuring the central venous pressure. The most common complications encountered during central venous catheterization include catheter-related infections and subsequent sepsis. Therefore, when fever exists in patients with a central venous catheter, an immediate blood culture should be performed, and if the fever persists, an infection must be suspected and the catheter immediately removed; a culture of the catheter tip should also be performed. To date, no definite clinical details relating to this matter have been reported. METHODS: Between December 2002 and March 2005, a retrospective study was undertaken using the medical records of 85 patients. In those patients where a fever lasted for more than 8 hours, or when catheterization was no longer needed, the catheter tip cultures were sent to the microbiology laboratory. Blood cultures were also performed on 49 patients with a fever. The Chi-square method using the PC SPSS program, with P value less than 0.05 as statically significant. RESULTS: Of the 85 patients where the catheters were removed, significant microorganisms were detected 20 of the 49 with a fever. Only 5 of the remaining 36 patients had their catheters spontaneously removed. Moreover, 14 of the 20 patients with significant microorganisms were found to have kept their catheter in place for more than 14 days. Of the 49 patients with a fever, in who blood cultures were undertaken, 13 showed specific microorganisms, with 6 of these showing the same results for both their blood and catheter tip cultures, which enabled the definite diagnosis of the catheter-related infection and underlying sepsis. Various microorganisms were detected from the catheter tip cultures, including Staphylococcus species the CNS, with S. aureus being the most common, at 61.6%. CONCLUSION: A central venous catheter should be removed immediately when an infection is suspected, but early broad-spectrum antibiotics therapy should be commenced due to the time required to obtain the culture results. Moreover, even if a fever does not exist in patients with a catheter inserted for more than 14 days, infection and sepsis from the catheter should be of concern, with a more cautious approach being mandatory.
Anti-Bacterial Agents ; Catheter-Related Infections ; Catheterization ; Catheterization, Central Venous ; Catheters ; Central Venous Catheters* ; Central Venous Pressure ; Diagnosis ; Fever ; Humans ; Medical Records ; Parenteral Nutrition, Total ; Renal Dialysis ; Renal Insufficiency ; Retrospective Studies ; Sepsis ; Staphylococcus

A number of genome-wide linkage analyses have identified the 2q33.3-2q37.2 region as most likely to contain the genes that contribute to the susceptibility to chronic obstructive pulmonary disease (COPD). It was hypothesized that the SERPINE2 gene, which is one of the genes located at the 2q33.3-2q37.2 region, may act as a low-penetrance susceptibility gene for COPD. To test this hypothesis, the association of four SERPINE2 single nucleotide polymorphisms (SNPs; rs16865421A>G, rs7583463A>C, rs729631C>G, and rs6734100C>G) with the risk of COPD was investigated in a case-control study of 311 COPD patients and 386 controls. The SNP rs16865421 was associated with a significantly decreased risk of COPD in a dominant model for the polymorphic allele (adjusted odds ratio [OR]=0.66, 95% confidence interval [CI]=0.45-0.97, P=0.03). In haplotype analysis, the GACC haplotype carrying the polymorphic allele at the rs16865421 was associated with a significantly decreased risk of COPD when compared to the AACC haplotype (adjusted OR=0.58, 95% CI=0.38-0.89, P=0.01), and this effect was evident in younger individuals (adjusted OR=0.30, 95% CI=0.14-0.64, P=0.002). This study suggests that the SERPINE2 gene contributes to the susceptibility to COPD.
Amyloid beta-Protein Precursor/*genetics ; *Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Haplotypes ; Humans ; Linkage (Genetics) ; Male ; Middle Aged ; *Polymorphism, Single Nucleotide ; Pulmonary Disease, Chronic Obstructive/*genetics/pathology ; Questionnaires ; Receptors, Cell Surface/*genetics

Prenatal Ultrasonographic findings of meconium peritonitis show calcificalion, and abdominal echogenic masses such as pseudocyst. Also, we can find availability of 3 dimensional ultrasonography above these descriptions. We present a case of meconium peritonitis in uterus which was diagnosed by means of prenatal 2D & 3D ultrasonography with brief review of literatures.
Meconium* ; Peritonitis ; Ultrasonography ; Uterus

OBJECTIVE: To explore the association of the CYP 1A1 gene polymorphism with the risk of endometriosis in a Korean population. DESIGN: Case-control study METHODS: Two-hundred fifty two Korean women with surgically or histologically diagnosed endometriosis of stage I-IV (ASRM, 1997) were recruited, and 203 women with no evidence of endometriosis served as controls. CYP1A1 gene MspI polymorphism was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. RESULTS: There was no significant difference in the genotype or allele distribution of CYP1A1 gene polymorphism between patients with endometriosis and controls. And when classified by stage, there was also no significant difference in the genotype and allele distribution of CYP1A1 gene MspI polymorphism between patients with stage I-II or stage III-IV endometriosis and controls. CONCLUSION: These results suggest that CYP1A1 gene MspI polymorphism is not associated with the risk of endometriosis in the Korean women.
Alleles ; Case-Control Studies ; Cytochrome P-450 CYP1A1* ; Endometriosis* ; Female ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length

A fusion gene between echinoderm microtubule-associated protein-like 4 (EML4) and the anaplastic lymphoma kinase (ALK) has been identified in non-small cell lung cancers (NSCLCs). Although a few studies have evaluated EML4-ALK fusion genes in Korean NSCLCs, the prevalence of different EML4-ALK fusion variants has yet to be clearly assessed. Herein, we have examined the profiles of EML4-ALK fusion gene variants in Korean patients of NSCLCs. EML4-ALK fusion genes have been detected in 10 (6.0%) of 167 patients of NSCLCs and in 9 (7.4%) of 121 patients of adenocarcinoma. Of the 10 patients with fusion genes identified, 8 (80%) were E13;A20 (variant 1) and 2 (20%) were E6;A20, with an additional 33-bp sequence derived from intron 6 of EML4 (variant 3b). These results indicate that the profiles of EML4-ALK fusion gene variants in Korean patients of NSCLC may differ from those in other ethnic populations. Herein, we describe for the first time the profiles of EML4-ALK fusion variants of Korean patients with NSCLCs.
Adenocarcinoma/diagnosis/genetics ; Aged ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Carcinoma, Non-Small-Cell Lung/diagnosis/*genetics ; Exons ; Female ; Humans ; Introns ; Lung Neoplasms/diagnosis/*genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion/chemistry/*genetics ; Republic of Korea ; Sequence Analysis, RNA ; Smoking

OBJECTIVE: To evaluate the incidence of the +769 G/A mutation of inhibin-alpha gene in Korean patients with idiopathic premature ovarian failure. DESIGN: DNA analysis of the mutation. METHODS: One hundred patients with idiopathic premature ovarian failure (POF) were recruited. Patient with known causes of premature ovarian failure were excluded: cytogenetic abnormalities, prior chemotherapy, prior bilateral oophorectomy and autoimmune disease, etc. DNA was extracted from peripheral blood and the +769 G/A variant of Inhibin-alpha gene (INH-alpha) was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism using restriction enzyme BbvI. RESULTS: We didn't find any case of +769 G/A variant in Inhibin-alpha gene in 100 Korean patients with idiopathic POF. CONCLUSION: This result suggests that in contrary to the recent data reported on the Asian population, the +769 G/A variant in inhibin-alpha gene may not exist in Korean patients with idiopathic POF.
Asian Continental Ancestry Group ; Autoimmune Diseases ; Chromosome Aberrations ; DNA ; Drug Therapy ; Female ; Humans ; Incidence ; Ovariectomy ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Primary Ovarian Insufficiency*

Background: Neurogenic differentiation 1 (NeuroD1) is a representative small cell lung cancer (SCLC) transcription regulator involved in the carcinogenesis and behavior of SCLC.Histone modifications play an important role in transcription, and H3 lysine 4 trimethylation (H3K4me3) is primarily associated with promoter regions. Methods: We investigated the association between single nucleotide polymorphisms (SNPs) in NeuroD1 and H3K4me3 coincident regions, selected using ChIP sequencing (ChIP-seq), and the clinical outcomes of 261 patients with SCLC. Results: Among 230 SNPs, two were significantly associated with both the chemotherapy response and overall survival (OS) of patients with SCLC. RNF145 rs2043268A>G was associated with worse chemotherapy response and OS (under a recessive model, adjusted odds ratio [aOR], 0.50, 95% confidence interval [CI], 0.26–0.94, P = 0.031, and adjusted hazard ratio [aHR], 1.88, 95% CI, 1.38–2.57, P < 0.001). CINP rs762105A>G was also associated with worse chemotherapy response and OS (under a dominant model, aOR, 0.47, 95% CI, 0.23–0.99, P = 0.046, and aHR, 2.03, 95% CI, 1.47–2.82, P < 0.001). ChIP–quantitative polymerase chain reaction and luciferase assay confirmed that the two SNPs were located in the active promoter regions and influenced the promoter activity of each gene. Conclusion To summarize, among SNPs selected using ChIP-seq in promoter regions with high peaks in both NeuroD1 and H3K4me3, RNF145 rs2043268A>G and CINP rs762105A>G were associated with clinical outcomes in patients with SCLC and also affected the promoter activity of each gene.