Neonatal hemochromatosis is a very rare disorder with an unclear etiology with an extremely poor outcome. We report a case of female newborn who presented with direct hyperbilirubinemia without any evidence of congenital infection, immune related hemolysis or exogenous iron uptake. Diagnostic studies revealed highly elevated ferritin level. T2 weighted image of abdominal Magnetic Resonance Imaging (MRI) showed decreased signal intensity of entire left lobe and a part of right lobe of liver with normal spleen. Liver biopsy showed a large amount of hemosiderin in the hepatocytes and Kupffer cells. All the biochemical and excretory liver functions normalized with conservative managements.
Biopsy ; Female ; Ferritins ; Hemochromatosis* ; Hemolysis ; Hemosiderin ; Hepatocytes ; Humans ; Hyperbilirubinemia ; Infant, Newborn ; Iron ; Kupffer Cells ; Liver ; Magnetic Resonance Imaging ; Spleen

Although the genetic basis for bone mineral density (BMD) has been studied by many groups so far, genes responsible for this complex trait has not been completely revealed. In order to localize quantitative trait loci (QTLs) for BMD variation in Asian population, the study was designed using a group of Mongolian population, a genetically closed population with a homogeneous lifestyle. BMD was measured at the left and right wrists and ankles using DEXA in 1,082 participants from 142 families. Genotyping of 13 polymorphic microsatellitemarkers on chromosome 13 (average spacing 8-9 cM) and two-point and multipoint linkage analysis wereperformed. In two-point linkage analysis, we identified two markers, D13S175 (6.03 cM) and D13S265 (68.73cM) that had LOD scores greater than 1 for left ankle (LOD=2.09, LOD=1.49, respectively). We also found a marker D13S175 (6.03 cM) with a high LOD for left wrist (LOD=1.49) and the markers D13S265 (68.73 cM) and D13S217 (17.21 cM) for the right wrist (LOD= 1.82, LOD= 1.62, respectively). Among these significant marker regions, only two regions at 17 cM (13p11) and 65 cM (13q21) for the right wrist overlapped with major QTLs reported in following multipoint linkage analysis (LOD= 1.7549, LOD=1.4462, respectively). This study provides the possible evidence of the presence of QTLs affecting right wrist BMD in Mongolian populations on 13p11 and 13q21. Modest evidence was also found for genes affecting left ankle and left wrist BMD on 13p13.
Animals ; Ankle ; Asian Continental Ancestry Group ; Bone Density ; Chromosomes, Human, Pair 13 ; Humans ; Life Style ; Lod Score ; Morphinans ; Quantitative Trait Loci ; Wrist

A slowly growing, non-chromogenic mycobacterial strain was isolated from sputum and bronchial lavage fluid samples of a patient presenting with productive cough, blood-tinged sputum, low-grade fever, and weakness. A positive acid-fast bacilli sputum smear result prompted the initiation of an anti-tuberculosis regimen. Multiplex real-time PCR showed a negative result for Mycobacterium tuberculosis complex and a positive result for nontuberculous mycobacteria. The DNA chip test confirmed this organism as a member of the genus Mycobacterium, but could not specify the species. Interestingly, the mycolic acid patterns obtained by HPLC nearly overlapped with those of M. simulans. The sequences of the Mycobacterium 16S rRNA gene and 16S-23S internal transcribed spacer region were unique and were found to have 100% similarity with those of M. riyadhense. After a review of the literature, we report this case as the first Korean case of M. riyadhense lung infection.
Adult ; Antitubercular Agents/pharmacology ; Chromatography, High Pressure Liquid ; Female ; Humans ; Lung Diseases/*microbiology ; Microbial Sensitivity Tests ; Mycobacterium/classification/drug effects/*isolation & purification ; Mycobacterium Infections/microbiology ; Mycobacterium tuberculosis/genetics/isolation & purification ; Mycolic Acids/analysis ; Oligonucleotide Array Sequence Analysis ; Phylogeny ; RNA, Ribosomal, 16S/chemistry/genetics ; RNA, Ribosomal, 23S/chemistry/genetics ; Republic of Korea ; Sequence Analysis, DNA

Toxocariasis is a parasite infection of a human host caused by Toxocara canis. Most human infections occur in persons who eat contaminated food containing embryonated eggs or larvae. Toxocariasis can produce various symptoms associated with eosinophilic infiltration into various internal organs such as the liver, lungs, eyes, or central nervous system. However, a simultaneous onset of cholecystitis and pericarditis has not yet been reported in the literature. A 39-year-old female patient complained of right upper abdominal pain. Several imaging studies revealed acute cholecystitis and pericarditis with pericardial effusion. Marked eosinophilia was observed in her peripheral blood and pericardial fluid. A high titer of antibodies against T. canis was discovered during the search for the cause of the eosinophilia. All clinical features and the eosinophilia improved dramatically after treatment with albendazole. We report a case of simultaneous onset of acute cholecystitis and pericarditis associated with marked eosinophilia caused by T. canis.
Abdominal Pain ; Albendazole ; Antibodies ; Central Nervous System ; Cholecystitis ; Cholecystitis, Acute ; Eggs ; Eosinophilia ; Eosinophils ; Eye ; Female ; Humans ; Larva ; Liver ; Lung ; Ovum ; Parasites ; Pericardial Effusion ; Pericarditis ; Toxocara canis ; Toxocariasis

BACKGROUND: It is recommended that all rapidly growing mycobacteria (RGM) isolated from patients with mycobacteriosis are subjected to antimicrobial susceptibility testing. The current study was aimed to perform susceptibility test on clinical strains of RGM isolated from patients with mycobacteriosis and to determine the clinical significance of the isolates. METHODS: For 17 patients with RGM infection from 2002 to 2006 at Ulsan University Hospital, medical records were reviewed retrospectively and anti-mycobacterial susceptibility test was performed for the clinical isolates by broth microdilution method. RESULTS: Rates of susceptible strains of RGMs against individual drugs were as follows: amikacin 100%, cefoxitin 59%, ciprofloxacin 82%, clarithromycin 71%, doxycycline 18%, imipenem 91% (M. fortuitum), sulfamethoxazole 71%, and tobramycin 100% (M. chelonae). Ten of the 17 nontuberculous mycobacteria (NTM) patients had been treated with anti-tuberculosis drugs initially. Anti-tuberculosis drugs were continued in 3 patients and changed to other antimicrobial agents effective to NTM in 4 patients, all of whom were cured. Five of 7 NTM patients who had been treated with anti-NTM treatment were cured. All isolates from the patients treated with anti-NTM drugs were susceptible to at least one of the drugs administered. CONCLUSION: Clinical isolates of RGMs showed fully susceptible to amikacin, while highly resistant to doxycycline and variable to other drugs depending on the species.
Amikacin ; Anti-Infective Agents ; Cefoxitin ; Ciprofloxacin ; Clarithromycin ; Doxycycline ; Humans ; Imipenem ; Medical Records ; Mycobacterium fortuitum ; Nontuberculous Mycobacteria ; Retrospective Studies ; Sulfamethoxazole ; Tobramycin ; Ulsan

Purpose: Salvage second-line chemotherapy is usually recommended for patients with advanced epithelial ovarian cancer (AEOC) who develop progressive disease (PD) after neoadjuvant chemotherapy (NAC). Herein, we investigated the role of cytoreductive surgery (CRS) for such patients. Materials and Methods: We retrospectively reviewed the medical records of 36 patients with AEOC who developed PD after receiving NAC at two tertiary academic centers with different treatment strategies between 2001 and 2016. Patients who developed PD after NAC were consistently treated with CRS at one hospital (group A; n=13) and second-line chemotherapy at another (group B;n=23). The clinical characteristics and treatment outcomes were compared between the groups. Results: Overall survival (OS) was longer in group A than in group B (19.4 months vs. 7.9 months; p=0.011). High-grade serous histology was associated with longer OS than non-high-grade serous types. In group A, optimal surgery resection (<1 cm) was achieved after CRS in 6 patients (46%). Multivariate analysis showed that the treatment option was the only independent predictive factor for OS (hazard ratio, 2.30; 95% confidence interval, 1.02–5.17; p=0.044). Conclusion CRS may result in a survival benefit even in patients with AEOC who develop PD after NAC.

BACKGROUND: Secretome refers to the total set of molecules secreted or surface-shed by stem cells. The limitations of stem cell research have led numerous investigators to turn their attention to the use of secretome instead of stem cells. In this study, we intended to reinforce antifibrotic properties of the secretome released from adipose-derived stem cells (ASCs) transfected with miR-214. METHODS: We generated miR-214-transfected ASCs, and extracted the secretome (miR214-secretome) from conditioned media of the transfected ASCs through a series of ultrafiltrations. Subsequently, we intravenously injected the miR-214-secretome into mice with liver fibrosis, and determined the effects of miR-214-secretome on liver fibrosis. RESULTS: Compared with that by naïve secretome, liver fibrosis was ameliorated by intravenous infusion of miR-214-secretome into mice with liver fibrosis, which was demonstrated by significantly lower expression of fibrosis-related markers (alpha-smooth muscle actin, transforming growth factor-β, and metalloproteinases-2) in the livers as well as lower fibrotic scores in the special stained livers compared with naïve secretome. The infusion of miR-214-secretome also led to lesser local and systemic inflammation, higher expression of an antioxidant enzyme (superoxide dismutase), and higher liver proliferative and synthetic function. CONCLUSION: MicroRNA-214 transfection stimulates ASCs to release the secretome with higher antifibrotic and anti-inflammatory properties. miR-214-secretome is thus expected to be one of the prominent ways of overcoming liver fibrosis, if further studies consistently validate its safety and efficiency.
Actins ; Animals ; Culture Media, Conditioned ; Humans ; Inflammation ; Infusions, Intravenous ; Liver ; Liver Cirrhosis ; Mesenchymal Stromal Cells ; Mice ; MicroRNAs ; Research Personnel ; Stem Cell Research ; Stem Cells ; Transfection

In this article, the ethical statement was missing.

The efficacy and toxicity of high-dose chemotherapy and autologous stem cell transplantation (HDCT/ASCT) were investigated for improving the outcomes of patients with relapsed medulloblastoma. A total of 15 patients with relapsed medulloblastoma were enrolled in the KSPNO-S-053 study from May 2005 to May 2007. All patients received approximately 4 cycles of salvage chemotherapy after relapse. Thirteen underwent HDCT/ASCT; CTE and CM regimen were employed for the first HDCT (HDCT1) and second HDCT (HDCT2), respectively, and 7 underwent HDCT2. One transplant related mortality (TRM) due to veno-occlusive disease (VOD) occurred during HDCT1 but HDCT2 was tolerable with no further TRM. The 3-yr overall survival probability and event-free survival rates +/-95% confidence intervals (CI) were 33.3+/-12.2% and 26.7% +/-11.4%, respectively. When analysis was confined to only patients who had a complete response (CR) or partial response (PR) prior to HDCT, the probability of 3-yr overall survival rates +/-95% CI was 40.0+/-15.5%. No patients with stable disease (SD) or progressive disease (PD) survived. Survival rates from protocol KSPNO-S-053 are encouraging and show that tumor status prior to HDCT/ASCT is an important factor to consider for improving survival rates of patients with relapsed medulloblastoma.
Adolescent ; Cerebellar Neoplasms/drug therapy/mortality/*therapy ; Child ; Child, Preschool ; Combined Modality Therapy ; Disease-Free Survival ; Female ; *Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Medulloblastoma/drug therapy/mortality/*therapy ; Neoplasm Recurrence, Local/drug therapy/mortality/*therapy ; Republic of Korea ; Salvage Therapy ; Transplantation, Autologous ; Young Adult

BACKGROUND: Bacterial pneumonia occurring after respiratory viral infection is common. However, the predominant bacterial species causing pneumonia secondary to respiratory viral infections other than influenza remain unknown. The purpose of this study was to know whether the pathogens causing post-viral bacterial pneumonia vary according to the type of respiratory virus. METHODS: Study subjects were 5,298 patients, who underwent multiplex real-time polymerase chain reaction for simultaneous detection of respiratory viruses, among who visited the emergency department or outpatient clinic with respiratory symptoms at Ulsan University Hospital between April 2013 and March 2016. The patients' medical records were retrospectively reviewed. RESULTS: A total of 251 clinically significant bacteria were identified in 233 patients with post-viral bacterial pneumonia. Mycoplasma pneumoniae was the most frequent bacterium in patients aged <16 years, regardless of the preceding virus type (p=0.630). In patients aged ≥16 years, the isolated bacteria varied according to the preceding virus type. The major results were as follows (p<0.001): pneumonia in patients with influenza virus (type A/B), rhinovirus, and human metapneumovirus infections was caused by similar bacteria, and the findings indicated that Staphylococcus aureus pneumonia was very common in these patients. In contrast, coronavirus, parainfluenza virus, and respiratory syncytial virus infections were associated with pneumonia caused by gram-negative bacteria. CONCLUSION: The pathogens causing post-viral bacterial pneumonia vary according to the type of preceding respiratory virus. This information could help in selecting empirical antibiotics in patients with post-viral pneumonia.
Ambulatory Care Facilities ; Anti-Bacterial Agents ; Bacteria ; Coronavirus ; Emergency Service, Hospital ; Gram-Negative Bacteria ; Humans ; Influenza, Human ; Medical Records ; Metapneumovirus ; Mycoplasma pneumoniae ; Orthomyxoviridae ; Paramyxoviridae Infections ; Pneumonia ; Pneumonia, Bacterial ; Pneumonia, Mycoplasma ; Pneumonia, Staphylococcal ; Real-Time Polymerase Chain Reaction ; Respiratory Syncytial Virus Infections ; Retrospective Studies ; Rhinovirus ; Ulsan