• Laboratory Medicine Online
• /
• v.7 no.2
• /
• pp.83-87
• /
• 2017

Pseudohypoparathyroidism (PHP) is a rare disorder caused by genetic and epigenetic aberrations in the GNAS complex locus resulting in impaired expression of stimulatory G protein ($Gs{\alpha}$). PHP type Ib (PHP-Ib) is characterized by hypocalcemia and hyperphosphatemia due to renal resistance to the parathyroid hormone, and is distinguished from PHP-Ia by the absence of osteodystrophic features. An 11-yr-old boy presented with poor oral intake and cramping lower limb pain after physical activity. Laboratory studies revealed hypocalcemia, hyperphosphatemia, and increased parathyroid hormone levels. The GNAS complex locus was evaluated using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Gain of methylation in the NESP55 domain and loss of methylation in the antisense (AS) transcript, XL, and A/B domains in the maternal allele were observed. Consequently, we present a case of PHP-Ib diagnosed using MS-MLPA.

• The Korean Journal of Blood Transfusion
• /
• v.23 no.2
• /
• pp.169-172
• /
• 2012

Lutheran a antigen ($Lu^a$) is detected in 6 to 8% of Caucasians and Africans. In Korean and other Asian populations, it is very rare or nearly absent. Therefore, although $Lu^a$ has a considerable immunizing capacity, sensitization to $Lu^a$ is a rare event. Here we report on a rare case of anti-$Lu^a$ in a 70 year-old female patient with Lu (a-/b+) phenotype and review the relevant literature. Due to the paucity of $Lu^a$ positive panel cells in antibody screening and identification tests, detection of this rare antibody to $Lu^a$ antigen is not feasible. Therefore, we should keep in mind the possibility of the misleading false negative result in detection of antibody to this low incidence antigen.

• Laboratory Medicine Online
• /
• v.1 no.1
• /
• pp.64-66
• /
• 2011

Anti-Sd^a is of no clinical significance, because it rarely causes hemolytic transfusion reactions. Even when its presence is suspected during antibody screening test, further identification of the antibody is usually not performed. We experienced a case of anti-Sd^a in 73 yr-old male patient showing mixed field agglutination by microcolumn agglutination. Antibody specificity could not be identified by conventional antibody identification test, and it was proven to be anti-Sd^a by urine neutralization test. In spite of its little clinical significance, it may give incompatible crossmatching results reacting with Sd^a antigen, which occurs at a high frequency in general population. When incompatible crossmatch results arising from anti-Sd^a are suspected, the problem may be solved by using the urine-neutralized serum of in crossmatching test.

• Laboratory Medicine Online
• /
• v.7 no.4
• /
• pp.163-169
• /
• 2017

Background: An automated immunohematology analyzer, DAYMATE M (DAY Medical, Switzerland), has been recently developed. The potential of this analyzer to improve test results has been evaluated. Methods: A total of 300 blood samples from Seoul St. Mary's hospital and Incheon St. Mary's hospital were tested for ABO and RhD typing. In addition, 336 antibody screening test (AST) samples and 82 patients treated with hematopoietic stem cell transplantation (HSCT) were included. AST results by DAYMATE M were compared with those obtained by a manual method using DS-Screening II (Bio-Rad Laboratories, Switzerland) and red blood cells from Selectogen (Ortho-Clinical diagnostics Inc., USA). Results: Of the 300 patients enrolled, 87, 73, 79, and 61 had type A, B, O, and AB blood, respectively. The concordance rate was 99.9% for cell typing and 97.0% for serum typing. One discordant case was classified as type B instead of AB, and six discordant serum-typing cases were type A, but classified as type AB. Among the 336 AST samples, the concordance rate was 93.2%. From 136 positive cases, six were discordant. Within the 82 HSCT-treated patients, the concordance rate for ABO blood typing was 92.2%. Among the six discordant cases, DAYMATE M typed four cases as donor type where the standard method typed them as the recipient blood type. Conclusions: The DAYMATE M automated immunohematology analyzer performs reliably for ABO and RhD typing, as well as for ASTs and on samples from patients treated with HSCT.

• Annals of Clinical Microbiology
• /
• v.19 no.1
• /
• pp.20-23
• /
• 2016

In the RNA-based study, it is important to extract high-quality RNA. However, RNA extraction from Mycobacterium tuberculosis is problematic due to its thick, waxy cell wall rich in mycolic acid, which renders the cells resistant to lysis. Using TRIzol reagent and several powerful bead-beating steps, a high quantity of RNA was obtained.

• Korean Journal of Clinical Laboratory Science
• /
• v.51 no.2
• /
• pp.177-184
• /
• 2019

Mycobacteria grow slowly. Therefore, a solid medium should be used for eight weeks and a liquid medium for six weeks. The purpose of this study was to find the growth factors that can grow Mycobacterium rapidly and to help develop a solid medium for rapid identification. Three types of Mycobacterium growth factors were evaluated with 10 Mycobacteria by adding activated charcoal, defibrinated sheep blood, and L-ascorbic acid to $Difco^{TM}$ Mycobacteria 7H11 agar (Becton, Dickinson and Company, Sparks, MD, USA). The time to detection and the distinguishability of a colony were compared with that of the current method. In the rapidly growing Mycobacterium, the difference in detection time between the new media and conventional media confirmed that the new media was faster. M. kansasii and M. intracelluare grew faster in 7H11 C than in 7H11 medium. MTB grew faster than the other media in 7H11 C. This study confirmed that the two growth factors affect fast-growing Mycobacteria and slow-growing Mycobacteria. 7H11 C showed better distinguishability than the conventional media in all 10 Mycobacterium due to the color contrast. In particular, when the MTB was grown, the size of the colonies was larger than with other media, so visualization was easy.

• Laboratory Medicine Online
• /
• v.1 no.1
• /
• pp.26-34
• /
• 2011

Background: Laboratory diagnosis of new influenza A (H1N1) is crucial for managing patients and establishing control and prevention measures. We compared the diagnostic accuracies of the real time RT-PCR (rRT-PCR) test recommended for the confirmation of the new flu and the viral culture method used conventionally for viral disease with that of the rapid antigen test (RAT). Methods: We performed RAT, R-mix culture, and real-time PCR by using 861 respiratory samples collected from December 2009 to January 2010 and evaluated the abilities of these methods to detect new influenza A. The relationship among the positive rates of RAT, grades of culture, and the cycle threshold (Ct) values of rRT-PCR was also evaluated. Results: Of the 861 patients, 308 (35.8%) were diagnosed with new influenza A. The sensitivities, specificities, positive predictive values, and negative predictive values of the tests were respectively as follows: 59.7%, 99.5%, 98.4%, and 81.6% for RAT; 93.2%, 100%, 100%, and 96.3% for R-mix culture; and 95.8%, 100%, 100%, and 97.7% for rRT-PCR. Samples with weak positive grade in culture and those with Ct values of 30-37 in rRT-PCR showed positivities as low as 25.3% and 2.3% in RAT, respectively. The hospitalization rate and death rate of the confirmed patients were 3.2% and 0.3%, respectively, and gastrointestinal symptoms were observed in 7.2% of the patients. Conclusions: R-mix culture and rRT-PCR tests showed excellent reliability in the diagnosis of new influenza A and could be very useful, especially for samples with low viral load.

• Laboratory Medicine and Quality Assurance
• /
• v.40 no.2
• /
• pp.51-69
• /
• 2018

As part of the immunoserology program of the Korean Association of External Quality Assessment Service, we organized two trials on the external quality assessment of hepatitis viral markers in 2016 and 2017. The hepatitis viral antigens and antibodies program consisted of 10 test items. We delivered two and three types of pooled sera specimens to 965 and 965 institutions for the first and second trials of external proficiency testing in 2016, respectively. The number of participating laboratories was 915 (94.8%) and 913 (95.0%) in the first and second trials in 2016, respectively. We also delivered three kinds of pooled sera specimens to 936 and 1,015 institutions for the first and second trials of external proficiency testing in 2017, respectively. The number of participating laboratories was 920 (98.3%) and 996 (98.1%) in the first and second trials in 2017, respectively. The most commonly tested items were hepatitis B surface antigen, followed by the antibodies to hepatitis B surface antigen, anti-hepatitis C virus, hepatitis B envelope antigen, antibodies to hepatitis B envelope antigen, anti-hepatitis A virus and antibodies to hepatitis B core antigen. The most frequently used methods for detecting viral markers were the chemiluminescence immunoassay and the electrochemiluminescence immunoassay, but they yielded a few-false positive results due to the matrix effect. The immunochromatographic assay yielded false-negative results for anti-hepatitis A virus due to low sensitivity. Continuous improvement in the quality of viral hepatitis testing through participation in the survey seems necessary.

• Laboratory Medicine Online
• /
• v.1 no.2
• /
• pp.110-114
• /
• 2011

There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.

• The Journal of the Korea Contents Association
• /
• v.19 no.6
• /
• pp.565-574
• /
• 2019

In this study, we evaluated the usefulness of an automatic blood typing analyzer using QWALYS-2 up (Diagast, Loos Cedex, France). During a month( 01OCT2013 - 31OCT2013) we performed 1,636 tests for ABO & RhD blood typing, 1,374 tests for antibody screen & identification tests and compared the results by automatic blood type analyzer with previous manual methods and column agglutination tests. And we analyzed the economic performance by comparison the test unit price between automatic blood type analyzer and manual methods. In ABO & RhD blood typing tests, there were complete concordances between manual and automated blood typing analyzer for 200 clinical samples. In Antibody screen tests, the concordance rate between manual and automated blood typing analyzer was 98.5% and more strong reaction in automated blood typing analyzer than manual methods. Therefore, the introduction of an automated blood typing analyzer, reagents costs were increased but labor costs were decreased. Considering the importance of transfusion safety and economic advantages, the introduction of an automated blood typing analyzer was very useful.