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The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia.

Seungman PARK ; Jun Eun PARK ; Sung Im CHO ; Yongbum JEON ; Sung Sup PARK ; Moon Woo SEONG

Annals of Laboratory Medicine.2012;32(1):99-101. doi:10.3343/alm.2012.32.1.99

Hereditary hemolytic anemia comprises a group of disorders in which red blood cells are destroyed faster than they are produced in the bone marrow; various hereditary factors can cause this condition, including production of defective Hb and erythrocyte membrane. Recently, we identified Hb Koriyama, a rare Hb variant that was undetectable in Hb electrophoresis and stability tests, in a patient with severe hemolytic anemia. This is the first study to show the nucleotide-level sequence variations in Hb Koriyama. On the basis of our results, we conclude that unstable Hb may not be detectable by conventional Hb electrophoresis or stability tests. Thus, we suggest further genetic workup in cases of unexplained hereditary hemolytic anemia.
Amino Acid Sequence ; Anemia, Hemolytic/blood/*diagnosis ; Child ; Female ; Gene Duplication ; Hemoglobins, Abnormal/*genetics ; Heterozygote ; Humans ; Molecular Sequence Data ; Mutation ; Sequence Analysis, DNA

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CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations.

Yoonmi SEOK ; Juwon KIM ; Jong Rak CHOI ; Yu Ri KIM ; Seo Jin PARK ; Sue Jung KIM ; Jaewoo SONG ; Kyung A LEE

Annals of Laboratory Medicine.2012;32(1):95-98. doi:10.3343/alm.2012.32.1.95

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.
Aged, 80 and over ; Antigens, CD5/*metabolism ; Bone Marrow/immunology/metabolism ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 3 ; Gene Rearrangement ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Lymphoma, Mantle-Cell/*diagnosis/genetics/immunology ; Male ; Oncogene Proteins, Fusion/*genetics ; Proto-Oncogene Proteins c-myc/*genetics ; Translocation, Genetic

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A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion.

Jeong Eun KANG ; Mi Young PARK ; Chong Kun CHEON ; Hyoung Doo LEE ; Sang Hyun HWANG ; Jongyoun YI

Annals of Laboratory Medicine.2012;32(1):91-94. doi:10.3343/alm.2012.32.1.91

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).
Abnormalities, Multiple/genetics ; Adult ; *Chromosome Inversion ; *Chromosomes, Human, Pair 20 ; Female ; Humans ; Infant, Newborn ; Phenotype ; *Recombination, Genetic ; *Trisomy

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Chronic Pulmonary Disease Due to Mycobacterium monacense Infection: The First Case from Iran.

Hasan SHOJAEI ; Abodolrazagh HASHEMI ; Parvin HEIDARIEH ; Nafiseh HOSSEINI ; Abass DAEI NASER

Annals of Laboratory Medicine.2012;32(1):87-90. doi:10.3343/alm.2012.32.1.87

We herein report a case in which the recently characterized species Mycobacterium monacense was isolated from the sputum of an Iranian patient. This case represents the first isolation of M. monacense from Iran. The isolate was identified by conventional and molecular techniques. Our findings show that M. monacense infection is not restricted to developed countries.
Bacterial Proteins/genetics ; Chaperonin 60/genetics ; Chronic Disease ; Female ; Humans ; Iran ; Lung Diseases/diagnosis/*microbiology ; Middle Aged ; Mycobacterium/classification/*genetics/isolation & purification ; Mycobacterium Infections/*microbiology/pathology ; Polymerase Chain Reaction ; RNA, Ribosomal, 16S/genetics ; Sputum/microbiology

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Characterization of a Vancomycin-resistant Enterococcus faecium Outbreak Caused by 2 Genetically Different Clones at a Neonatal Intensive Care Unit.

Wee Gyo LEE ; Sun Hyun AHN ; Min Kwon JUNG ; Hye Young JIN ; Il Joong PARK

Annals of Laboratory Medicine.2012;32(1):82-86. doi:10.3343/alm.2012.32.1.82

In July 2010, we identified an outbreak of vancomycin-resistant enterococci (VRE) in our 26-bed neonatal intensive care unit. We performed an epidemiological investigation after clinical cultures of 2 neonates were positive for VRE. Identification, susceptibility testing, and molecular characterization were performed. Cultures of 3 surveillance stool samples of inpatients and 5 environmental samples were positive for VRE. All isolates were identified as Enterococcus faecium containing the vanA gene. Two distinct clones were identified by performing pulsed-field gel electrophoresis. The 2 clones exhibited different pulsotypes, but they represented identical Tn1546 types. Two sequence types, ST18 and ST192, were identified among all of the isolates with multilocus sequence typing. Our investigation determined that the outbreak in the neonatal intensive care unit was caused by 2 genetically different clones. The outbreak may have occurred through clonal spread and horizontal transfer of the van gene.
Anti-Bacterial Agents/pharmacology ; Bacterial Proteins/genetics ; Bacterial Typing Techniques ; Carbon-Oxygen Ligases/genetics ; DNA, Bacterial/analysis ; *Disease Outbreaks ; Electrophoresis, Gel, Pulsed-Field ; Enterococcus faecium/drug effects/*genetics/isolation & purification ; Feces/microbiology ; Genotype ; Gram-Positive Bacterial Infections/diagnosis/epidemiology/*microbiology ; Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Male ; Multilocus Sequence Typing ; Vancomycin/pharmacology ; *Vancomycin Resistance

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Evaluation of a New Immunochromatographic Assay Kit for the Rapid Detection of Norovirus in Fecal Specimens.

Kwi Sung PARK ; Kyoung Ah BAEK ; Dong Uk KIM ; Kyung Sook KWON ; Sun Hye BING ; Joon Soo PARK ; Hae Seon NAM ; Sang Han LEE ; Young Jin CHOI

Annals of Laboratory Medicine.2012;32(1):79-81. doi:10.3343/alm.2012.32.1.79

Rapid and accurate detection of norovirus is essential for the prevention and control of norovirus outbreaks. This study compared the effectiveness of a new immunochromatographic assay kit (SD BIOLINE Norovirus; Standard Diagnostics, Korea) and real-time reverse transcription-PCR (RT-PCR) for detecting norovirus in fecal specimens. Compared with real-time RT-PCR, the new assay had sensitivity, specificity, positive predictive value, and negative predictive value of 76.5% (52/68), 99.7% (342/343), 98.1% (52/53), and 95.5% (342/358), respectively. The sensitivity of the assay was 81.8% (18/22) for GII.3 and 75.7% (28/37) for GII.4. None of the 38 enteric virus-positive specimens (3 for astrovirus, 5 for enteric adenovirus, and 30 for rotavirus) tested positive in the cross-reactivity test performed by using this assay. The new immunochromatographic assay may be a useful screening tool for the rapid detection of norovirus in sporadic and outbreak cases; however, negative results may require confirmatory assays of greater sensitivity.
Acute Disease ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Caliciviridae Infections/*diagnosis ; Child ; Child, Preschool ; Feces/*virology ; Gastroenteritis/*diagnosis/virology ; Humans ; *Immunoassay ; Infant ; Middle Aged ; Norovirus/*genetics/isolation & purification ; RNA, Viral/analysis ; Reagent Kits, Diagnostic ; Reverse Transcriptase Polymerase Chain Reaction ; Sensitivity and Specificity

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Pre- and Post-transfusion Testing for Hepatitis B Virus Surface Antigen and Antibody in Blood Recipients: A Single-Institution Experience in an Area of High Endemicity.

Hyeongsu KIM ; Mina HUR ; Hee Won MOON ; Chul Min PARK ; Jin Hee CHO ; Kyoung Sik PARK ; Kunsei LEE ; Sounghoon CHANG

Annals of Laboratory Medicine.2012;32(1):73-78. doi:10.3343/alm.2012.32.1.73

BACKGROUND: Hepatitis B remains the most common transfusion-transmitted viral infection. We explored the current status of pre-transfusion screening and post-transfusion follow-up testing for hepatitis B virus (HBV) surface antigen (HBsAg) and antibodies (anti-HBs) in blood recipients from an area of high HBV endemicity. METHODS: A total of 7,780 blood recipients were transfused with at least 1 unit of blood component at a single university hospital in Korea between January 2006 and December 2009. Their medical records were reviewed, and their demographic and transfusion-related data were analyzed. RESULTS: Pre-transfusion HBsAg and anti-HBs levels were tested in 77.6% (6,037/7,780) of the recipients. The results varied widely according to recipient age. In all, 32.8% (1,982/6,037) of the recipients who were tested had dual negative pre-transfusion results for HBsAg and anti-HBs and, therefore, were at increased risk of HBV transmission. Post-transfusion follow-up testing for HBsAg and/or anti-HBs was performed in 22% (436/1,982) of the increased-risk group. CONCLUSIONS: Our data show that current transfusion-related laboratory testing practice is not sufficient to properly investigate possible post-transfusion infections. Routine laboratory tests, including HBsAg and anti-HBs, should be recommended in transfusion guidelines.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; *Blood Transfusion ; Child ; Child, Preschool ; Cohort Studies ; Demography ; Endemic Diseases ; Female ; Hepatitis B/*diagnosis/epidemiology/*transmission ; Hepatitis B Antibodies/*blood ; Hepatitis B Surface Antigens/*blood ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Retrospective Studies ; Risk

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Application of Calculated Panel Reactive Antibody Using HLA Frequencies in Koreans.

Ji Young JANG ; Yoon Joo KIM ; Yonggoo KIM ; Yeon Joon PARK ; Kyungja HAN ; Eun Jee OH

Annals of Laboratory Medicine.2012;32(1):66-72. doi:10.3343/alm.2012.32.1.66

BACKGROUND: Introduction of the Luminex panel reactive antibody (PRA)-single antigen (SA) assay has increased the detection rates of unacceptable antigens in sensitized patients; the calculated PRA (CPRA) level represents the percentage of actual organ donors that express 1 or more of these unacceptable antigens. We developed a CPRA calculator based on the HLA frequencies in Koreans to measure sensitization levels in Korean patients. METHODS: To develop the calculator, we obtained the HLA-A, HLA-B, and HLA-DR phenotypes of 1,622 Koreans, and compared these with previously reported frequencies in Koreans. Sera from patients awaiting kidney transplantation were tested for HLA antibodies by Luminex PRA-screen, PRA-identification (ID), and PRA-SA assays. The measured %PRA from the PRA-screen (N=55) and PRA-ID (N=71) were compared to the %CPRA for the unacceptable antigens obtained from PRA-SA. RESULTS: Phenotype frequencies used for the CPRA calculator agreed with previously reported data. The concordance rates among the 3 PRA methods for the detection of class I and class II antibodies were 76.1-81.8% (kappa, 0.519-0.636) and 72.7-83.6% (0.463-0.650), respectively. For the detection of broadly sensitized sera (>50% or >80%), the concordance rates were over 80%. In sera with 80-100% CPRA, 91.7% and 94.4% of the samples had concordant results (80-100% PRA) in the PRA-screen and PRA-ID assay, respectively. CONCLUSIONS: Although further clinical studies are required to confirm the benefits of CPRA values, adoption of CPRA analysis based on HLA frequencies in Koreans may be useful for sensitization measurements and organ-allocation algorithms.
*Algorithms ; HLA Antigens/immunology ; HLA-B Antigens/immunology ; HLA-DR Antigens/immunology ; *Histocompatibility Testing ; Humans ; Isoantibodies/*blood/immunology ; Phenotype ; Republic of Korea

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Use of PCR with Sequence-specific Primers for High-Resolution Human Leukocyte Antigen Typing of Patients with Narcolepsy.

Hye In WOO ; Eun Yeon JOO ; Seung Bong HONG ; Kyung Wha LEE ; Eun Suk KANG

Annals of Laboratory Medicine.2012;32(1):57-65. doi:10.3343/alm.2012.32.1.57

BACKGROUND: Narcolepsy is a neurologic disorder characterized by excessive daytime sleepiness, symptoms of abnormal rapid eye movement (REM) sleep, and a strong association with HLA-DRB1*1501, -DQA1*0102, and -DQB1*0602. Here, we investigated the clinico-physical characteristics of Korean patients with narcolepsy, their HLA types, and the clinical utility of high-resolution PCR with sequence-specific primers (PCR-SSP) as a simple typing method for identifying DRB1*15/16, DQA1, and DQB1 alleles. METHODS: The study population consisted of 67 consecutively enrolled patients having unexplained daytime sleepiness and diagnosed narcolepsy based on clinical and neurological findings. Clinical data and the results of the multiple sleep latency test and polysomnography were reviewed, and HLA typing was performed using both high-resolution PCR-SSP and sequence-based typing (SBT). RESULTS: The 44 narcolepsy patients with cataplexy displayed significantly higher frequencies of DRB1*1501 (Pc= 0.003), DQA1*0102 (Pc=0.001), and DQB1*0602 (Pc=0.014) than the patients without cataplexy. Among patients carrying DRB1*1501-DQB1*0602 or DQA1*0102, the frequencies of a mean REM sleep latency of less than 20 min in nocturnal polysomnography and clinical findings, including sleep paralysis and hypnagogic hallucination were significantly higher. SBT and PCR-SSP showed 100% concordance for high-resolution typing of DRB1*15/16 alleles and DQA1 and DQB1 loci. CONCLUSIONS: The clinical characteristics and somnographic findings of narcolepsy patients were associated with specific HLA alleles, including DRB1*1501, DQA1*0102, and DQB1*0602. Application of high-resolution PCR-SSP, a reliable and simple method, for both allele- and locus-specific HLA typing of DRB1*15/16, DQA1, and DQB1 would be useful for characterizing clinical status among subjects with narcolepsy.
Adolescent ; Adult ; Aged ; Alleles ; Cataplexy/genetics ; *DNA Probes, HLA ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; HLA-DQ Antigens/genetics ; HLA-DRB1 Chains/genetics ; *Histocompatibility Testing ; Humans ; Male ; Middle Aged ; Narcolepsy/*diagnosis/genetics ; Phenotype ; Polymerase Chain Reaction

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Comparison of Modified Multiple-locus Variable-number Tandem-repeat Fingerprinting with Pulsed-field Gel Electrophoresis for Typing Clinical Isolates of Staphylococcus aureus.

Soie CHUNG ; Jongyoun YI ; Mi Hee JANG ; Sei Ick JOO ; Eun Kyung RA ; So Yeon KIM ; Chulhun L CHANG ; Sung Sup PARK ; Eui Chong KIM

Annals of Laboratory Medicine.2012;32(1):50-56. doi:10.3343/alm.2012.32.1.50

BACKGROUND: Multiple-locus variable-number tandem-repeat fingerprinting (MLVF) is based on multiplex PCR, utilizing variable number tandem repeat. Our goal was to compare the performance of MLVF in distinguishing clinical Staphylococcus aureus isolates with that of pulsed-field gel electrophoresis (PFGE), which has traditionally been the gold standard. METHODS: Sixty-three clinically significant S. aureus isolates were tested using both PFGE and MLVF. Multiplex PCR for MLVF was performed using PCR primers for clfA, clfB, sdrCDE, sspA, and spa. PFGE was performed with genomic DNA fragments generated by SmaI endonuclease digestion. Banding patterns of MLVF or PFGE were analyzed using InfoQuestFP software. RESULTS: The hands-on time of our modified method was about 3 h, on average, for each of 18 isolates. PFGE (80% cutoff) or MLVF (75% cutoff) separated all of the 63 isolates into 13 and 12 types, respectively. Three types generated by PFGE were identical to those generated by MLVF. PFGE and MLVF yielded similar Simpson's diversity indices, indicating similar discriminatory power. The overall concordance between PFGE and MLVF was low, as represented by adjusted Rand indices (0.266-0.278). PFGE predicted MLVF type better than MLVF predicted PFGE type, as reflected by Wallace coefficients (PFGE cutoff 80% vs. MLVF cutoff 75%, 0.389 vs. 0.233). Analysis of the relationship between a pair of isolates showed 91.0% concordance between the PFGE (80% cutoff) and MLVF (75% cutoff). CONCLUSIONS: Our simple, low-cost, modified MLVF protocol can effectively discriminate between S. aureus clinical isolates. MLVF can replace PFGE for the hospital infection control of S. aureus.
Bacterial Typing Techniques/*methods ; *DNA Fingerprinting ; DNA, Bacterial/analysis ; *Electrophoresis, Gel, Pulsed-Field ; Genotype ; Humans ; Methicillin-Resistant Staphylococcus aureus/classification/genetics/isolation & purification ; Multiplex Polymerase Chain Reaction ; Staphylococcal Infections/*microbiology ; Staphylococcus aureus/*classification/*genetics/isolation & purification

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