Although Malassezia furfur is normal skin flora causing superficial skin diseases, cases of fungemia have been reported recently in premature newborns or immunocompromised patients related to prolonged central venous catheterization for lipid supplementation. We report a case of M. furfur fungemia in a premature infant receiving intravenous lipid supplementation through central venous circulation. She was treated only with antifungal agents without removal of the catheter or discontinuation of lipid supplementation. Soon after, symptoms and signs of the patient seemed to be improved. However, central venous catheter was removed because of recurrent septicemia of Staphylococcus aureus and the culture of central venous catheter tip showed colonization of M. furfur.
Antifungal Agents ; Catheterization, Central Venous ; Catheters ; Central Venous Catheters* ; Colon ; Fungemia* ; Humans ; Immunocompromised Host ; Infant, Newborn ; Infant, Premature ; Malassezia* ; Sepsis ; Skin ; Skin Diseases ; Staphylococcus aureus

Background: Detection of anti-human leukocyte antigen (HLA) antibodies is important during the selection of an appropriate donor prior to organ transplantation and also for monitoring the patients after transplantation. In this study, we compared antibodies detected via C3d assays, which monitors C3d complement-binding activities of HLA antibodies with those detected via single antigen bead (SAB) assays. Methods: A total of 66 serum samples were tested in parallel by SAB assays (Immucor Transplant Diagnostics, USA) and C3d assays (Immucor) for the detection of HLA class II antibodies. The relationship between these two methods was analyzed based on the types, numbers, median fluorescent intensity (MFI) values, and positivity of the antibodies using MATCH IT! Antibody (Immucor) program. Results: The number of antibodies obtained based on SAB and C3d assays was the highest with 24 samples (36.4%) in the 11–20 range and 23 (34.8%) in the 2–5 range detected via each assay. Among the SAB-positive antibodies, only 28 (6.4%) of the 440 antibodies with MFI ≤3,000 were C3d-positive, and 341 (61.3%) of the 556 antibodies with MFI ≥3,001 were C3d-positive. Whereas, among the 442 C3d-positive antibodies, SAB assays were positive except for 32 (7.2%) and 41 (9.3%) antibodies in the sections of MFI ≤500 and 1,001 ≤MFI ≤10,000, respectively. C3d-positive samples had higher maximum MFI values based on SAB assays, compared with C3d-negative samples. Conclusions MFI values of HLA class II antibodies detected through SAB assays in C3d-positive samples were higher than those in C3d-negative samples.

Background: Detection of anti-human leukocyte antigen (HLA) antibodies is important during the selection of an appropriate donor prior to organ transplantation and also for monitoring the patients after transplantation. In this study, we compared antibodies detected via C3d assays, which monitors C3d complement-binding activities of HLA antibodies with those detected via single antigen bead (SAB) assays. Methods: A total of 66 serum samples were tested in parallel by SAB assays (Immucor Transplant Diagnostics, USA) and C3d assays (Immucor) for the detection of HLA class II antibodies. The relationship between these two methods was analyzed based on the types, numbers, median fluorescent intensity (MFI) values, and positivity of the antibodies using MATCH IT! Antibody (Immucor) program. Results: The number of antibodies obtained based on SAB and C3d assays was the highest with 24 samples (36.4%) in the 11–20 range and 23 (34.8%) in the 2–5 range detected via each assay. Among the SAB-positive antibodies, only 28 (6.4%) of the 440 antibodies with MFI ≤3,000 were C3d-positive, and 341 (61.3%) of the 556 antibodies with MFI ≥3,001 were C3d-positive. Whereas, among the 442 C3d-positive antibodies, SAB assays were positive except for 32 (7.2%) and 41 (9.3%) antibodies in the sections of MFI ≤500 and 1,001 ≤MFI ≤10,000, respectively. C3d-positive samples had higher maximum MFI values based on SAB assays, compared with C3d-negative samples. Conclusions MFI values of HLA class II antibodies detected through SAB assays in C3d-positive samples were higher than those in C3d-negative samples.

Dystrophic epidermolysis bullosa (DEB) pruriginosa is a rare subtype of DEB characterized by multiple, violaceous, and severe pruritic lichenified nodules along with blisters. Here, we report the case of a Korean male who, since the age of 3 years, had multiple pruritic nodules with blisters on both lower extremities. Genetic testing is required to diagnose DEB pruriginosa because its clinical and histologic features are inconclusive. We identified compound heterozygous COL7A1 variants of c.5797C>T (p.R1933*) and c.3301C>T (p.R1101W) in the patient, leading to a diagnosis of recessive DEB pruriginosa. Among the variants identified, c.3301C>T is a novel missense variant that has not been reported previously. This variant is in exon 26, which encodes von Willebrand factor A (vWFA) in collagen type VII. vWFA is known to preserve normal dermal structures by interacting with dermal collagens and basement membranes. Considering that this variant contradicts the general concept that autosomal dominant inheritance is more common and that variants typically occur in the triple helical collagenous domain of COL7A1 in DEB pruriginosa, we focus on the rarity of this case and the possible pathogenic role of the c.3301C>T (p.R1101W) variant.

PURPOSE: Maintaining body temperature is a key vital function of human beings, but little is known about how body temperature of high-risk infants is sustained during early life after birth. The aim of this study was to describe hypothermia in high-risk infants during their first week of life and examine demographic, environmental, and clinical attributors of hypothermia. METHODS: A retrospective longitudinal study was done from January 1, 2013 to December 31, 2015. Medical records of 570 high-risk infants hospitalized at Neonatal Intensive Care Units (NICU) of a university affiliated hospital were examined. Body temperature and related factors were assessed for seven days after birth. RESULTS: A total of 336 events of hypothermia (212 mild and 124 moderate) occurred in 280 neonates (49.1%) and most events (84.5%) occurred within 24 hours after birth. Logistic regression analysis revealed that phototherapy (aOR=0.28, 95% CI=0.10-0.78), Apgar score at 5 minute (aOR=2.20, 95% CI=1.17-4.12), and intra-uterine growth retardation or small for gestational age (aOR=3.58, 95% CI=1.69-7.58) were statistically significant contributors to hypothermia. CONCLUSION: Findings indicate that high-risk infants are at risk for hypothermia even when in the NICU. More advanced nursing interventions are necessary to prevent hypothermia of high-risk infants.
Apgar Score ; Body Temperature ; Gestational Age ; Humans ; Hypothermia* ; Infant* ; Infant, Newborn ; Intensive Care Units, Neonatal ; Logistic Models ; Longitudinal Studies ; Medical Records ; Nursing ; Parturition ; Phototherapy ; Retrospective Studies

No abstract available.
Cannibalism ; Urinary Bladder

Hereditary hemolytic anemia (HHA) is considered a group of rare hematological diseases in Korea, primarily because of its unique ethnic characteristics and diagnostic challenges.Recently, the prevalence of HHA has increased in Korea, reflecting the increasing number of international marriages and increased awareness of the disease. In particular, the diagnosis of red blood cell (RBC) enzymopathy experienced a resurgence, given the advances in diagnostic techniques. In 2007, the RBC Disorder Working Party of the Korean Society of Hematology developed the Korean Standard Operating Procedure for the Diagnosis of Hereditary Hemolytic Anemia, which has been continuously updated since then. The latest Korean clinical practice guidelines for diagnosing HHA recommends performing nextgeneration sequencing as a preliminary step before analyzing RBC membrane proteins and enzymes. Recent breakthroughs in molecular genetic testing methods, particularly nextgeneration sequencing, are proving critical in identifying and providing insight into cases of HHA with previously unknown diagnoses. These innovative molecular genetic testing methods have now become important tools for the management and care planning of patients with HHA. This review aims to provide a comprehensive overview of recent advances in molecular genetic testing for the diagnosis of HHA, with particular emphasis on the Korean context.

A 73-year-old man visited our hospital because of pain with swelling and redness on the right foot dorsum. He was diagnosed with liver cirrhosis and nodular hepatic cellular carcinoma. Lower extremity CT scan and MRI showed abscess formation in the right foot dorsum. Gram-negative cocci were recovered from the culture of drained pus at the site and identified as Neisseria skkuensis by 16S rRNA gene sequencing. Here, we report the first case of cellulitis due to N. skkuensis and provide a literature review.
Abscess ; Aged ; Cellulitis* ; Foot ; Genes, rRNA ; Humans ; Liver Cirrhosis ; Lower Extremity ; Magnetic Resonance Imaging ; Neisseria* ; RNA, Ribosomal, 16S ; Sequence Analysis ; Suppuration ; Tomography, X-Ray Computed

DNA methylation is one of the main epigenetic mechanisms and hypermethylation of CpG islands at tumor suppressor genes switches off these genes. To find novel DNA methylation markers in hepatocellular carcinoma (HCC), we performed pharmacological unmasking (treatment with 5-aza-2'-deoxycytidine or trichostatin A) followed by microarray analysis in HCC cell lines. Of the 239 promoter CpG island loci hypermethylated in HCC cell lines (as revealed by methylation-specific PCR), 221 loci were found to be hypermethylated in HCC or nonneoplastic liver tissues. Thirty-three loci showed a 20% higher methylation frequency in tumors than in adjacent nonneoplastic tissues. Correlation of individual cancer-related methylation markers with clinicopathological features of HCC patients (n = 95) revealed that the number of hypermethylated genes in HCC tumors was higher in older than in younger patients. Univariate and multivariate survival analysis revealed that the HIST1H2AE methylation status is closely correlated with the patient's overall survival (P = 0.022 and P = 0.010, respectively). In conclusion, we identified 221 novel DNA methylation markers for HCC. One promising prognostic marker, HIST1H2AE, should be further validated in the prognostication of HCC patients.
Azacitidine/analogs & derivatives/pharmacology ; Carcinoma, Hepatocellular/*genetics/mortality ; Cell Line, Tumor ; CpG Islands ; DNA Methylation/*drug effects ; Down-Regulation ; Female ; Hep G2 Cells ; Humans ; Hydroxamic Acids/pharmacology ; Liver/metabolism ; Liver Neoplasms/*genetics/mortality ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Promoter Regions, Genetic ; Survival Analysis ; Tumor Markers, Biological/*genetics

Although the prevalence of hereditary hemolytic anemia (HHA) is relatively low in Korea, it has been gradually increasing in recent decades due to increment in the proportions of hemoglobinopathies from immigrants of South East Asia, raising awareness of the disease among clinicians, and advances in diagnostic technology. As such, the red blood cell (RBC) Disorder Working Party (WP), previously called HHA WP, of the Korean Society of Hematology (KSH) developed the Korean Standard Operating Procedures (SOPs) for the diagnosis of HHA in 2007. These SOPs have been continuously revised and updated following advances in diagnostic technology [e.g., flow cytometric osmotic fragility test (FOFT) and eosin-5-maleimide (EMA) binding test], current methods for membrane protein or enzyme analysis [e.g., liquid chromatography-tandem mass spectrometry (LC-MS/MS), ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS), high-performance liquid chromatography (HPLC)], and molecular genetic tests using next-generation sequencing (NGS). However, the diagnosis and treatment of HHA remain challenging as they require considerable experience and understanding of the disease. Therefore, in this new Korean Clinical Practice Guidelines for the Diagnosis of HHA, on behalf of the RBC Disorder WP of KSH, updated guidelines to approach patients suspected of HHA are summarized. NGS is proposed to perform prior to membrane protein or enzyme analysis by LC-MS/MS, UPLC-MS/MS or HPLC techniques due to the availability of gene testing in more laboratories in Korea. We hope that this guideline will be helpful for clinicians in making diagnostic decisions for patients with HHA in Korea.