Screening of A1555G mDNA Variant Using U-TOP™HL Genotyping Kit in Korean Family with Progressive Hearing Loss / 대한이비인후과학회지

Recently, real-time polymerase chain reaction (PCR) using the U-TOP™HL Genotyping Kit has been introduced to detect genetic hearing loss caused by certain type of gene variants popularly found in Korea. The mitochondrial 12S ribosomal ribonucleic acid (rRNA) genes are related to aminoglycoside induced or non-syndromic, sensorineural hearing loss. Among them, 1555A>G is commonly found and reported worldwide. We are presenting the case of a mother and a son, who were screened by real-time PCR using the U-TOP™HL Genotyping Kit and were found both to have the mitochondrial 12s rRNA 1555A>G variant with a different hearing loss phenotype. This report encourages clinicians to use this or similar screen methods for patients with familial hearing loss.

Report on the Project for Establishment of the Standardized Korean Laboratory Terminology Database, 2015

The National Health Information Standards Committee was established in 2004 in Korea. The practical subcommittee for laboratory test terminology was placed in charge of standardizing laboratory medicine terminology in Korean. We aimed to establish a standardized Korean laboratory terminology database, Korea-Logical Observation Identifier Names and Codes (K-LOINC) based on former products sponsored by this committee. The primary product was revised based on the opinions of specialists. Next, we mapped the electronic data interchange (EDI) codes that were revised in 2014, to the corresponding K-LOINC. We established a database of synonyms, including the laboratory codes of three reference laboratories and four tertiary hospitals in Korea. Furthermore, we supplemented the clinical microbiology section of K-LOINC using an alternative mapping strategy. We investigated other systems that utilize laboratory codes in order to investigate the compatibility of K-LOINC with statistical standards for a number of tests. A total of 48,990 laboratory codes were adopted (21,539 new and 16,330 revised). All of the LOINC synonyms were translated into Korean, and 39,347 Korean synonyms were added. Moreover, 21,773 synonyms were added from reference laboratories and tertiary hospitals. Alternative strategies were established for mapping within the microbiology domain. When we applied these to a smaller hospital, the mapping rate was successfully increased. Finally, we confirmed K-LOINC compatibility with other statistical standards, including a newly proposed EDI code system. This project successfully established an up-to-date standardized Korean laboratory terminology database, as well as an updated EDI mapping to facilitate the introduction of standard terminology into institutions.

A Case of Primary Anti-D Alloimmunization by RHD (c.1227G>A) DEL Red Blood Cell Transfusion / 대한수혈학회지

The Rh blood group D antigen is the most immunogenic of all antigens, next to ABO antigens. Anti-D immunization is clinically important since it may cause clinical problems, such as severe hemolytic transfusion reactions and hemolytic disease of the newborn. DEL is an extremely weak D variant that cannot be detected by basic serologic typing and is typed as D-negative without the absorption-elution techniques and RHD genotyping. Of the DEL phenotype, RHD (c.1227G>A) allelic variant is the most common in Korea. The DEL phenotype has been considered to carry only a few D antigens to induce anti-D immunization, but a few cases have reported that this allelic variant is capable of inducing anti-D immunization in a D-negative recipient, for which it is clinical significant. Herein, we present a case of primary anti-D alloimmunization in a RhD negative patient after receiving RHD (c.1227G>A) DEL red cell transfusion identified by serological and molecular tests, including RHD genotyping.

Actual Incidence of Transfusion-Related Adverse Reactions Compared with Transfusion-Related Signs or Symptoms and by Each Blood Product / 대한수혈학회지

BACKGROUND: Transfusion-related adverse reaction is detected based on patients' adverse signs or symptoms during or after transfusion. We analyzed the actual incidence of transfusion-related adverse reactions by investigating diagnosed cases among reported signs or symptoms, and reexamined our transfusion-related adverse reaction reporting system. METHODS: From January to June, 2015, there were 4,234 cases of transfusion and 18,191 units of blood product were used. During transfusion, patients' signs or symptoms were checked and reported by the medical team at least three times, 5 minutes after transfusion started, during transfusion, and after transfusion, using the electronic reporting system in the blood bank. A laboratory medicine doctor investigated reported signs or symptoms by reviewing patients' electronic medical records, diagnosed transfusion-related adverse reaction by textbook definition, and surveyed actual incidence. In addition, incidence of transfusion-related signs or symptoms and transfusionrelated adverse reaction by each blood product was determined. RESULTS: Out of 1,091 transfusion-related signs or symptoms, only 226 cases (20.71%) were diagnosed with transfusion-related adverse reaction. Among these, most common cases were febrile nonhemolytic reaction with incidence of 0.91%, followed by allergic reaction with 0.32%. The incidence of transfusion-related adverse reaction by each blood product was highest for leukocyte-reduced red blood cells 3.41% and apheresis platelets 2.59%. Febrile nonhemolytic reaction was mainly related to red blood cells and allergic reaction was mainly related to platelets. CONCLUSION: The actual incidence of transfusion-related adverse reaction was only 20% of transfusion-related signs or symptoms. Therefore, reforming the reporting system and transfusion-related clinical inspection and education are required.

ABO*Ael03/O Genotype with ABO Discrepancy: The First Case in Korea

The Ael subgroup expresses the least amount of A antigens and could only be detected by performing the adsorption-elution test. The frequency of the Ael subgroup is about 0.001% in Koreans, and the Ael02 allele, which originates from A102, is the most frequently identified allele in the Korean population. We report a Korean family with the Ael03 allele identified by molecular genetic analysis. To the best of our knowledge, this is the first such report in Korea to date.

Comparison of Quantitation of Cytomegalovirus DNA by Real-Time PCR in Whole Blood with the Cytomegalovirus Antigenemia Assay

BACKGROUND: Quantitation of cytomegalovirus (CMV) DNA using real-time PCR has been utilized for monitoring CMV infection. However, the CMV antigenemia assay is still the 'gold standard' assay. There are only a few studies in Korea that compared the efficacy of use of real-time PCR for quantitation of CMV DNA in whole blood with the antigenemia assay, and most of these studies have been limited to transplant recipients. METHOD: 479 whole blood samples from 79 patients, falling under different disease groups, were tested by real-time CMV DNA PCR using the Q-CMV real-time complete kit (Nanogen Advanced Diagnostic S.r.L., Italy) and CMV antigenemia assay (CINA Kit, ArgeneBiosoft, France), and the results were compared. Repeatedly tested patients were selected and their charts were reviewed for ganciclovir therapy. RESULTS: The concordance rate of the two assays was 86.4% (Cohen's kappa coefficient value=0.659). Quantitative correlation between the two assays was a moderate (r=0.5504, P<0.0001). Among 20 patients tested repeatedly with the two assays, 13 patients were transplant recipients and treated with ganciclovir. Before treatment, CMV was detected earlier by real-time CMV DNA PCR than the antigenemia assay, with a median difference of 8 days. After treatment, the antigenemia assay achieved negative results earlier than real-time CMV DNA PCR with a median difference of 10.5 days. CONCLUSIONS: Q-CMV real-time complete kit is a useful tool for early detection of CMV infection in whole blood samples in transplant recipients.

Performance of the Elecsys HIV combi PT Assay Compared to the ARCHITECT HIV Ag/Ab Combo Assay

BACKGROUND: The aim of this study was to compare the analytical sensitivity and specificity of the recently updated 4th generation Elecsys HIV combi PT assay (Roche Diagnostics GmbH, Germany) to those of the ARCHITECT HIV Ag/Ab Combo assay (Abbott Laboratories, Germany). METHODS: A total of 2,003 fresh random clinical samples, 4 HIV seroconversion panels, a WHO International Standard p24 antigen sensitivity panel, 5 HIV-1 subtype viral lysates, and 5 HIV-1 subtype antibodies were tested in comparative studies with the Elecsys HIV combi PT and ARCHITECT HIV Ag/Ab Combo assays. Samples were assayed with both tests on the same day. The MP Diagnostics HIV Western Blot 2.2 Assay, the Elecsys HIV p24 Ag Test and Confirmatory Test, and the COBAS AmpliPrep/COBAS TaqMan HIV-1 Test were performed as supplementary tests. RESULTS: Both the Elecsys and ARCHITECT assays detected viral antigens in all four seroconversion panels on the same bleed days, and had lower limits of detection of <1 IU/mL with the p24 antigen sensitivity panel. The ARCHITECT assay showed slightly higher sensitivity in detecting viral antigens with some HIV-1 subtype viral lysates, while the Elecsys assay was more sensitive in detecting each of the 5 HIV-1 subtype antibodies. Both assays detected 5/5 HIV+ clinical samples correctly. The analytical specificities of the Elecsys and ARCHITECT assays were 99.90% and 99.80%, respectively. CONCLUSIONS: The Elecsys HIV combi PT assay performed comparably to the ARCHITECT HIV Ag/Ab Combo assay. Thus, the Elecsys HIV combi PT assay is suitable for diagnostic testing in university hospital settings.

Development of Severe Hemolytic Anemia after Treatment with Anti-D Immunoglobulin in a Patient with Immune Thrombocytopenic Purpura / 대한수혈학회지

A 78-year-old female was admitted due to nasal bleeding and purpuric macules on both legs. The patient underwent renal biopsy, and a diagnosis of Henoch-Schonlein purpura nephritis was made. The patient's platelet count was 1.6x10(10)/L, and, based on results from bone marrow biopsy, the patient was diagnosed with immune thrombocytopenic purpura. Despite treatment with glucocorticoid and IV immunoglobulin, thrombocytopenia continued. The patient's blood group was Rhesus D positive and treatment with IV anti-D immunoglobulin followed. Thereafter, platelet count showed a rapid increase; however, occurrence of hemolytic anemia, hyperbilirubinemia, and hemoglobinuria consistent with intravascular hemolysis was observed.