HMOX1 Gene Promoter Polymorphism is Not Associated with Coronary Artery Disease in Koreans

BACKGROUND: The heme oxygenase-1 gene (HMOX1) promoter polymorphisms modulate its transcription in response to oxidative stress. This study screened for HMOX1 polymorphisms and investigated the association between HMOX1 polymorphisms and coronary artery disease (CAD) in the Korean population. METHODS: The study population consisted of patients with CAD with obstructive lesions (n=110), CAD with minimal or no lesions (n=40), and controls (n=107). Thirty-nine patients with CAD with obstructive lesions underwent follow-up coronary angiography after six months for the presence of restenosis. The 5'-flanking region containing (GT)n repeats of the HMOX1 gene was analyzed by PCR. RESULTS: The numbers of (GT)n repeats in the HMOX1 promoter showed a bimodal distribution. The alleles were divided into two subclasses, S25 and L25, depending on whether there were less than or equal to and more than 25 (GT)n repeats, respectively. The allele and genotype frequencies among groups were statistically not different. More subjects in the S25-carrier group had the low risk levels of high sensitivity C-reactive protein (hsCRP) for the CAD than those in the non-S25 carrier group (P=0.034). Multivariate logistic regression analysis revealed that the genotypes of (GT)n repeats were not related to CAD status. The restenosis group in the coronary angiography follow-up did not show any significant difference in HMOX1 genotype frequency. CONCLUSIONS: The HMOX1 genotypes were not found to be associated with CAD, but the short allele carrier group contained more individuals with hsCRP values reflecting low risk of cardiovascular disease in the Korean population.

A Case of der(19)t(1;19) in Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Translocation between chromosomes 1 and 19 is well documented in ALL. Here, we report a case of refractory anemia with ring sideroblasts associated with marked thrombocytosis with der(19)t(1;19). A 67-yr-old man was admitted to our hospital with anemia and thrombocytosis. The aspirated bone marrow showed erythroid and megakaryocytic hyperplasia and dyspoiesis. Iron staining showed that the ring sideroblasts increased in number. Bone-marrow cell karyotyping showed 46,XY,der(19)t(1;19)(q23;p13)[9]/46,XY,del(5)(q21)[2]/46,XY[9]. PCR analysis showed the absence of the TCF3-PBX1 rearrangement. The patient was treated with hydroxyurea and intermittent blood transfusion. It is known that t(1;19)(q23;p13) leads to a TCF3-PBX1 fusion gene, whose product is a powerful transcriptional activator that plays a key role in the development of ALL. However, t(1;19) has rarely been reported in myeloid neoplasms and the TCF3-PBX1 fusion gene has not been detected. This implies that other genes might be involved in the TCF3-PBX1 rearrangement, or an alternative TCF3-PBX1 fusion transcript with a different breakpoint has not been detected to date. Further research and case studies, including the use of molecular analysis techniques, are required to evaluate the clinical and prognostic significance of t(1;19) in the development of myeloid neoplasms.

A Case of Therapy-related Myeloid Neoplasm after Successful Treatment of Acute Promyelocytic Leukemia

Acute promyelocytic leukemia (APL) is considered as a curative disease after combined chemotherapy based on all-trans retinoic acid (ATRA) and anthracycline. However, as long-term survivors continue to increase, reports on sporadic cases of therapy-related myeloid neoplasm (t-MN) after successful APL treatment are also increasing. Recently, we have experienced one patient who developed t-MN 7 yr after APL diagnosis. Even though he had not been exposed to alkylating agents at all, he showed alkylating agents-associated features such as long latency period (>5 yr), first presentation as myelodysplatic phase (multilineage dysplasia with increased blasts), and complex karyotype including monosomy 5 and 7. He received only supportive care and expired 3 months after the diagnosis of t-MN (6 months of survival after the onset of cytopenias). t-MN after complete remission of APL is a rare but fatal complication, and patients with complex karyotypes show ominous prognosis in particular. For the early diagnosis of t-MN, long-term and close monitoring of the patient is needed. One should suspect this late complication whenever any unknown cytopenia develops, and should perform bone marrow biopsy and cytogenetic analysis.

A Serial Study of Hematologic Change in Burned Patients / 임상검사와정도관리

BACKGROUND: Hematologic changes in burned patients show unique patterns with time after burn injury. In this study, we analyzed the changes of leukocyte count, hemoglobin concentration, and platelet count according to elapsed time and burn size. METHODS: A total of 265 burned patients were included in this retrospective study. The changes in leukocyte count, hemoglobin, and platelet count according to elapsed time were analyzed every 6 hours from immediately after burn injury until day 2, and then every 24 hours from day 3 to day 14. The differences according to burn size were also analyzed. All the results were expressed as mean+/-standard deviation. RESULTS: Leukocyte count, hemoglobin, and platelet count began to increasing immediately after burn injury, reaching the peak within 12 hours after injury, and then decreased. WBC count was lowest at days 3 to 4 and then began increasing, reaching the second peak at day 7-8. Hemoglobin level continuously decreased and remained at the level of anemia from day 4 to day 14. Platelet count was lowest at days 3-4 and then continuously increased until day 14. The wider the burn sizes were, the greater the changes in leukocyte count, hemoglobin, and platelet count, with 11-40% of the patients showing the most remarkable increase in the number of platelets after day 4. CONCLUSIONS: The leukocyte count, hemoglobin concentration and platelet count were dramatically changed within the first 72 hours after burn injury and the wider the burn sizes were, the greater these changes were. These results could be used as reference data for interpreting the results of complete blood count in burned patients.

Diagnosis of Malaria Using Automatic Hematology Analyzer / 임상검사와정도관리

BACKGROUND: For the diagnosis of malaria, examination of blood smear slides by light microscopy is used as standard, and commercial kits detecting malarial antibodies and antigens are available, and molecular methods such as polymerase chain reaction (PCR) are used additionally. But, these diagnostic methods can be performed when clinicians request them, so problems of misdiagnosing the patients who are not suspected malaria may be occurred. METHODS: In 42 Korean patients with malaria, the author analyzed the characteristic signals of malaria using granularity (90 degrees depolarized) versus lobularity (90 degrees polarized) graph of Cell-Dyn 4000 (CD4000) automatic hematologic analyzer. And, the author examined the presence of malaria in 421 random samples by CD4000 and Giemsa stain. RESULTS: The usefulness of CD4000 in diagnosing malaria are as follows, 93.0% sensitivity, 99.3% specificity, 93.0% positive-predictive value, and 99.3% negative-predictive value. CONCLUSION: CD4000 automatic hematology analyzer has high diagnostic sensitivity and specificity in diagnosing malaria. Because complete blood count (CBC) is the routine test for most patients, this method has advantage of time and cost effectiveness and can even detect malaria in unsuspected cases.

A Case of Plasmodium vivax Infection Diagnosed after Treatment of Imported Falciparum Malaria / 대한임상병리학회지

In South Korea, most imported malaria has been caused by Plasmodium falciparum and little mixed infection has been reported which is frequently observed in other countries. We report a case of mixed malarial infection with P. falciparum/P. vivax. It was diagnosed by using three kinds of dipstick tests (two malarial antibody tests and one pLDH immunocapture assay), polymerase chain reaction (PCR), and a peripheral blood smear in a nineteen-year-old woman who had traveled to Bangladesh. The patient was diagnosed with P. falciparum on the first-visit blood sample and P. vivax with the second-visit sample by using all three kinds of dipstick tests. Peripheral blood smears and a PCR of the patient's blood also showed P. falciparum and P. vivax parasites and DNA bands of two species of malaria. In conclusion, an imported malaria case should be accurately diagnosed using the malarial antibody detection kit, pLDH immunocapture assay, and PCR in addition to the peripheral blood smear for the possibility of mixed infection with malaria.

A Case of Knee Joint Infection by Mycobacterium abscessus / 대한임상병리학회지

Rapid growing mycobacterium grows in less than 7 days on most types of solid media including the Ogawa media. Ninety percent of human diseases caused by rapid growing mycobacterium are due to Mycobacterium abscessus, Mycobacterium chelonae and Mycobacterium fortuitum. We report an isolated case of wound infection due to M. abscessus following total knee replacement arthroplasty surgery. The patient has presented arthralgia and fever for 3 weeks. From the joint fluid aspirates, pale gram-positive beaded rods were found but cultures were negative after 24 hours. After 48 hours, microorganisms grew on blood agar plates as tiny pinpoint colonies and they had odor of freshly-turned soil. They gave a positive reaction in a partial acid fast, an acid-fast stain and a heat-stable catalase but gave a negative reaction to PCR for IS6110. They were identified as the M. chelonae group biochemically and confirmed as M. abscessus through PCR-restriction fragment length polymorphism using restriction endonuclease, BstE II. Because rapid-growing mycobacterium can grow on a blood agar plate, an acid-fast stain should be selectively conducted in addition to a Gram stain in a microbiology laboratory.

HLA-DQA1, HLA-DQB1, and HLA-DRB1 Allele Frequency in Korean Patients with Schizophrenia / 신경정신의학

OBJECTIVE: The aim of this study was to investigate the correlation between HLA-DQA1, HLA-DQB1 and HLA-DRB1 alleles and disease susceptibility in Korean schizophrenic patients. METHODS: HLA-DQA1, HLA-DQB1, and HLA-DRB1 allele typing were performed using polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) method in 128 Korean schizophrenic patients diagnosed by DSM-IV criteria, who were not blood-related, and 160 normal blood bank donors. RESULTS: The HLA-DQB1*04 allele frequency was 14.6% in schizophrenic patients, which was significantly higher than that of normal controls which was 8.2% (p=0.028). HLA-DRB1*14 allele frequency was 11.8% in patients, which was also more frequent than that of normal controls which was 5.5% (p=0.01). HLA-DRB*15 allele frequency was 2.0% in patients, which was significantly lower than that of normal controls which was 7.1% (p=0.007) and HLA-DRB*16 allele frequency was 1.6% in patients, which was also lower than that of normal controls which was 4.8% (p=0.043). CONCLUSIONS: Schizophrenia in Korea had positive correlation with HLA-DQB1*04 and HLA-DRB1*14, and negative correlation with HLA-DRB1*15 and HLA-DRB1*16. These findings support the association of the HLA-DQB1 and HLA-DRB1 with schizophrenia in Korean population, which was different from other study results in other different ethnic groups.