Hibernoma is very rarely encountered and is expressed in the various names including "lipoma of brown fat", "fetal lipoma", and "lipoma of embryonic fat". In our knowledge, only about 50 cases have been reported in the literature of the Western world, and no case reports have been published in Korea. In May 1986, we experienced a case of hibernoma occuring in a 16 old years boy. On physical examination, a relatively well defined nodule was noted on the right scapular region. A total removal of the lesion was done under the clinical diagnosis of epidermal inclusion cyst. On gross examination, the specimen consists of three irregularly shaped portions of yellowish brown soft tissue, measuring up to 0.8 cm in greatest dimension. Microscopically, the tumor showed distinct lobular pattern separated by fibrovascular bands. The lobules were composed of multivacuolated or eosinophilic granular cells showing centrally located small unclei. A brief review of the literature was done.

Teratomas of the fallopian tubes are very rarely encountered in the western literature, and not a single case has been documented in Korea. The authors experienced two cases of tubal teratomas. Both patients developed a teratoma in an ampullary portion of the right fallopian tubes. One case occured as an incidental finding, and the other case was presented with a tubal mass. The gross and light microscopic features of these teratomas were described, and a brief review of the literature on the tubal teratomas is made.

PURPOSE: Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis is difficult to anticipate. The present study investigates whether distinct patient characteristics are associated with mitochondrial DNA (mtDNA) mutation in LS patients. METHODS: We retrospectively analyzed data from patients diagnosed with LS at our hospital who were assessed using genomic sequencing of mtDNA. A subgroup analysis was performed to divide patients according to the mtDNA sequencing results. RESULTS: Among the 85 patients enrolled, 18 had mtDNA mutations. Most patients had lactic acidosis and a lactate/pyruvate ratio above 20, indicating respiratory chain abnormalities. In the subgroup analysis, the mutation group had a significantly higher female-to-male ratio, alanine level, ocular involvement, and midbrain and medulla abnormalities on magnetic resonance imaging (MRI). CONCLUSION: The subgroup analysis indicates that mtDNA sequencing is recommended for female patients, or those who exhibit ocular involvement, high alanine levels, or MRI findings with lesions in the midbrain and medulla.
Acidosis, Lactic ; Alanine ; Brain Stem ; Central Nervous System ; DNA, Mitochondrial* ; Electron Transport ; Female ; Humans ; Leigh Disease* ; Magnetic Resonance Imaging ; Mesencephalon ; Mitochondria ; Neurodegenerative Diseases ; Prognosis ; Retrospective Studies

Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

BACKGROUND: The interaction between killer immunoglobulin-like receptors (KIRs) and HLA class I regulates natural killer (NK) cell cytotoxicity and function. The impact of NK cell alloreactivity through KIR in liver transplantation remains unelucidated. Since the frequency of HLA-C and KIR genotypes show ethnic differences, we assessed the impact of HLA-C, KIR genotype, or KIR-ligand mismatch on the allograft outcome of Korean liver allografts. METHODS: One hundred eighty-two living donor liver transplant patients were studied. Thirty-five patients (19.2%) had biopsy-confirmed acute rejection (AR), and eighteen (9.9%) had graft failure. The HLA-C compatibility, KIR genotypes, ligand-ligand, and KIR-ligand matching was retrospectively investigated for association with allograft outcomes. RESULTS: Homozygous C1 ligands were predominant in both patients and donors, and frequency of the HLA-C2 allele in Koreans was lower than that in other ethnic groups. Despite the significantly lower frequency of the HLA-C2 genotype in Koreans, donors with at least one HLA-C2 allele showed higher rates of AR than donors with no HLA-C2 alleles (29.2% vs 15.7%, P=0.0423). Although KIR genotypes also showed ethnic differences, KIR genotypes and the number of activating KIR/inhibitory KIR were not associated with the allograft outcome. KIR-ligand mismatch was expected in 31.6% of Korean liver transplants and had no impact on AR or graft survival. CONCLUSIONS: This study could not confirm the clinical impact of KIR genotypes and KIR-ligand mismatch. However, we demonstrated that the presence of HLA-C2 allele in the donor influenced AR of Korean liver allografts.
Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Female ; Genotype ; Graft Rejection ; Graft Survival ; HLA-C Antigens/*genetics ; Homozygote ; Humans ; Killer Cells, Natural/cytology/immunology ; Ligands ; *Liver Transplantation ; Male ; Middle Aged ; Proportional Hazards Models ; Receptors, KIR/chemistry/*genetics/metabolism ; Republic of Korea ; Tissue Donors ; Transplantation, Homologous

BACKGROUND: This study evaluated the clinical characteristics and risk factors associated with community and hospital onset MRSA isolated from patients admitted to a tertiary care teaching hospital. METHODS: The study was carried out on MRSA isolated from clinical specimens of patients admitted into the wards and the intensive care unit in a 2,200-bed tertiary care teaching hospital from January 1st through December 31st, 2007. In order to identify the risk factors associated with MRSA acquisition, the medical records were reviewed. All statistics were computed using SPSS version 14.0. RESULTS: Of the 835 MRSA isolates, 179 (21.4%) were CO-MRSA and 656 (78.6%) were HO-MRSA. Of the 179 CO-MRSA isolates, 6 (3.4%) were CA-MRSA. Multiple logistic regression analysis showed that a history of using medical device or antibiotics within 1 year before the isolation of MRSA were significant risk factors for HO-MRSA, and a history of hospitalization within 1 year before the isolation of MRSA was a significant risk factor for CO-MRSA. Analysis on the antibiotics administered within 1 year before the isolation of MRSA showed that levofloxacin, macrolides, 1st generation cephalosporins, 3rd generation cephalosporins, 4th generation cephalosporins, vancomycin, metronidazole, and carbapenem were all significant risk factors for HO-MRSA and that TMP/SMX was a significant risk factor for CO-MRSA. Of the 6 (3.4%) CA-MRSA isolates, 1 (16.7%) was the pathogen responsible for soft tissue infection. No patients died from the CA-MRSA infection. CONCLUSION: MRSA isolated from clinical specimens of patients admitted into the wards and the ICU in a tertiary care teaching hospital was usually HO-MRSA, CO-MRSA and HO-MRSA usually had at least one of the risk factors associated with MRSA acquisition, and CO-MRSA was mainly HACO-MRSA.
Anti-Bacterial Agents ; Cephalosporins ; Hospitalization ; Hospitals, Teaching ; Humans ; Intensive Care Units ; Logistic Models ; Macrolides ; Medical Records ; Methicillin Resistance ; Methicillin-Resistant Staphylococcus aureus ; Metronidazole ; Ofloxacin ; Risk Factors ; Soft Tissue Infections ; Tertiary Healthcare ; Vancomycin

No abstract available.
Occupational Diseases*

Adult-onset Still's Disease (AOSD) is a rare, immune-mediated, multisystem inflammatory disorder characterized by quotidian spiking fevers, an evanescent rash, arthritis, lymphadenopathy, splenomegaly, a sore throat, leukocytosis, and liver dysfunction. Its clinical manifestations are very diverse, from relatively mild symptoms to severe complications, such as disseminated intravascular coagulation, cardiac tamponade, acute respiratory distress syndrome, hemophagocytic syndrome, and hepatic failure. Hepatic failure is an extremely rare complication that could lead to death. Therefore, early diagnosis and treatment are important. We report a case of adult-onset Still's disease with acute febrile hepatitis.
Adult ; Arthritis ; Cardiac Tamponade ; Disseminated Intravascular Coagulation ; Early Diagnosis ; Exanthema ; Fever ; Hepatitis ; Humans ; Leukocytosis ; Liver Diseases ; Liver Failure ; Lymphatic Diseases ; Lymphohistiocytosis, Hemophagocytic ; Pharyngitis ; Respiratory Distress Syndrome, Adult ; Splenomegaly ; Still's Disease, Adult-Onset