A Case of Haemophilus parainfluenzae Endocarditis / 대한임상미생물학회지

The HACEK group of bacteria (Haemophilus parainfluenzae, H. aphrophilus, H. paraphrophilus, Actinobacilus actinomycetemcomitans, Cardiobacterium hominis, Eikenella corodens, and Kingella kingae) are the normal flora of the upper respiratory tract and oropharynx. The organisms infect abnormal cardiac valves, causing subacute native endocarditis or prosthetic valve endocarditis more than one year after valve surgery. Haemophilus species are responsible for only 0.5~1% of all infective endocarditis cases. Embolization occurs in 60% and the mortality rate ranges from 16~45% of cases of infective endocarditis caused by H. parainfluenzae. We experienced a case of infective endocarditis due to H. parainfluenzae in a 37-year-old male admitted with high fever, chills, nausea & vomiting, chest discomfort, and blurred vision. The organism was isolated from a blood culture and was identified as H. parainfluenzae by factor V requirement, negativity at urea, positivity at ornithine decarboxylase, and acid production from glucose and maltose. The patient was treated with antibiotics and symptoms and signs were improved

Two cases of Smith-Magenis syndrome / 소아과

SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.

Extramedullary B Lymphoblastic Crisis of CML, Presenting as a Leptomeningeal Tumor: A Case Report

We report here on a rare case of a patient who presented with an extramedullary B lymphoblastic crisis as an initial manifestation of chronic myelogenous leukemia (CML). A 71-year-old man visited the emergency room due to suddenly developed dysarthria and right side weakness. Emergency craniotomy was done under the presumptive diagnosis of subdural hemorrhage. During the operation, a poorly demarcated firm mass was identified in the leptomeningeal space. Microscopically, the majority of the tumor was composed of monotonous immature cells with blast morphology, and these cells were immunoreactive for TdT, CD34, CD10 and CD20, indicating the precursor B-cell phenotype. The peripheral area of the tumor consisted of myeloid cells in various stages of maturation, and these cells were reactive for myeloperoxidase, chloroacetate esterase, CD43 and CD15. FISH analysis using the LSI bcr-abl dual color probe showed gene fusion signals in both the B-lymphoblasts and myeloid cells. The peripheral blood and bone marrow findings were consistent with CML with no evidence of a blast crisis. Cytogenetic study of the bone marrow demonstrated the 46, XY, t(9;22)(q34;q11) chromosome. A diagnosis of extramedullary B lymphoblastic blast crisis in a patient with Philadelphia chromosome-positive CML was made. Despite treatment, the patient died 3 months after he was diagnosed.

Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on the long arm of the X chromosome in band Xq22. This mutation results in abnormal expression or production of PLP. We here present a Korean boy with spastic quadriplegia, horizontal nystagmus, saccadic gaze, intentional tremor, head titubation, ataxia, and developmental delay. The brain magnetic resonance imaging (MRI) showed abnormally high signal intensities in the white matter tract, including a subcortical U fiber on the T2-weighted and fluid attenuated inversion recovery (FLAIR) image. The chromosomal analysis was normal; however, duplication of the PLP1 gene in chromosome Xq22 was detected when the multiplex ligation-dependent probe amplification (MLPA) method was used. We also investigated the pedigree for a genetic study related to PMD. This case suggests that the duplication mutation of the PLP1 gene in patients with PMD results in a mild clinical form of the disorder that mimics the spastic quadriplegia of cerebral palsy.

Standardization of Terminology in Laboratory Medicine ll

Standardization of medical terminology is essential in data transmission between health care institutes and in maximizing the benefits of information technology. The purpose of this study was to standardize medical terms for laboratory observations. During the second year of the study, a standard database of concept names for laboratory terms that covered those used in tertiary health care institutes and reference laboratories was developed. The laboratory terms in the Logical Observation Identifier Names and Codes (LOINC) database were adopted and matched with the electronic data interchange (EDI) codes in Korea. A public hearing and a workshop for clinical pathologists were held to collect the opinions of experts. The Korean standard laboratory terminology database containing six axial concept names, components, property, time aspect, system (specimen), scale type, and method type, was established for 29,340 test observations. Short names and mapping tables for EDI codes and UMLS were added. Synonym tables were prepared to help match concept names to common terms used in the fields. We herein described the Korean standard laboratory terminology database for test names, result description terms, and result units encompassing most of the laboratory tests in Korea.

Evaluation of Automated Architect Syphilis TP as a Diagnostic Laboratory Screening Test for Syphilis / 대한진단검사의학회지

BACKGROUND: The aim of the study was to establish a new syphilis test algorithm using Architect Syphilis TP (Abbott Japan, Japan: AST), a fully automated treponemal antibody test, as a screening test in a university hospital laboratory. We evaluated performance characteristics of AST in various patient groups. METHODS: A total of 1,357 serum samples obtained from patients at a university hospital from June to August, 2008 were categorized into checkup, preoperative, other diseases, diagnosis (clinically suspected of syphilis), and follow up groups. We compared the results of AST with those of RPR (N=1,276) or Treponema pallidum hemagglutination assay (TPHA, N=81). Samples with discrepant results between RPR or TPHA and AST were retested by fluorescent treponemal antibody absorption test (FTA-ABS) and all patients' clinical records were thoroughly reviewed. RESULTS: The positive rate of AST was significantly higher than that of RPR in preoperative and other diseases groups and was the same as that of RPR in diagnosis group. There were no significant differences in check up and follow up groups. The results of AST showed 97.4% (1,243/1,276) and 97.5% (79/81) concordance rates with those of RPR and TPHA, respectively. Among 26 RPR-AST discrepant and FTA-ABS confirmed cases, there were 20 RPR false-negatives, 4 RPR false-positives, 1 AST false-negative, and 1 AST false-positive. CONCLUSIONS: Based on the results and literature review, we established a new syphilis test algorithm using AST as a screening test, which would be helpful for detection of more syphilis patients including latent infections.

Survey Results of Medical Insurance Reimbursement System for Independent Medical Laboratories in Korea / 대한진단검사의학회지

BACKGROUND: A questionnaire survey was performed to perceive the problem of the current medical insurance reimbursement system for laboratory tests referred to independent medical laboratories; then, we intended to find a way to improve the reimbursement system. METHODS: Questionnaires were distributed to 220 independent medical laboratories and 700 laboratory physicians from July through October 2005. Frequency analysis was used to analyse the replies from 109 respondents to 25 questionnaire items regarding the current medical insurance reimbursement system for referral tests, problems with the system, and suggestions for the improvement of the system. RESULTS: Among the 109 respondents to this survey, 49 (45.8%) considered the current reimbursement system to be unsatisfactory, while only 16 (15.0%) answered satisfactory. The problem was that the referral clinics-not the laboratories that performed the tests--would first receive their reimbursement for the laboratory tests from Health Insurance Review Agency (HIRA) and then give a portion of the laboratory test fees to the independent medical laboratories after the deduction of administrative fees. They (62.5% of the respondents) would prefer a separated reimbursement system by which the referral clinic-as well as the independent medical laboratory-would receive their reimbursement directly from HIRA through an Electronic Data Interchange (EDI) system. In this new system, 34% of the respondents expected the quality of the laboratory tests to be improved; however, 41.6% answered that the income of the referral clinic is expected to decrease. CONCLUSIONS: For the improvement of the medical insurance reimbursement system, the administrative fee for the referral clinic and the test fee for the independent medical laboratory should be reimbursed directly to the respective organizations. These changes could be made possible with the proper analysis of medical costs and the development of an effective EDI reimbursement system.

Evaluation of the DG Gel System using the Microtube Column Agglutination Technique for Antibody Screening and Identification / 대한수혈학회지

BACKGROUND: For the antibody screening test, the classical LISS tube indirect antiglobulin test has been replaced by the microtube column agglutination system in Korea. This system was first created in 1990 by Lapierre and it is distributed through DiaMed (DiaMed Ag, Cresssier, Morat, Switzerland) around the world. Similar systems, such as Ortho BioVue, have been developed and competed after that. We evaluated a newly developed microtube column agglutination system, DG Gel (Diagnostic Grifols, Barcelona, Spain), and we compare it with the other established systems. METHODS: In a comparative study, a total of 126 samples, including 76 antibody screening positive samples and 50 negative samples, were tested in parallel by the LISS/Coombs card (DiaMed Ag, Cresssier, Morat, Switzerland) and the DG Gel microtube column agglutination system. The positive samples that were proved by the LISS/Coombs card and the DG Gel system were identified by the ID-Dia panel (DiaMed Ag, Cresssier, Morat, Switzerland) and Identisera Diana (Diagnostic Grifols, Barcelona, Spain). Discrepant samples were rechecked with I, II and III cells that were supplied by the panel of the Korea Red Cross Blood Center. RESULTS: Among the 126 samples, the DG Gel antibody screening system showed 98.7% (75/76) sensitivity and 100% (50/50) specificity. We obtained concordant results in 75 samples (98.7%) and discrepant results in one sample (1.32%) between the DG Gel and DiaMed-ID for antibody identification. CONCLUSION: Both the microtube column agglutination systems work well and showed high estimated sensitivity and specificity with high concordance. Therefore, the DG gel microtube column agglutination system can be used with good results.

Epidemiology of Respiratory Viral Infection in 2004-2006 / 대한진단검사의학회지

BACKGROUND: The information on the incidence, seasonal variation and clinical pattern of respiratory virus infections is very important for clinicians in managing their patients. This study was aimed to define the epidemiology of respiratory viral pathogens in Seoul and the neighboring areas from March 2004 to February 2006. METHODS: A total of 6,533 specimens were cultured for respiratory viruses during the study period. Madin-Darby canine kidney (MDCK), LLC-MK2, and HEp-2 cells, or R-mix cells (Diagnostic Hybrids Inc., Athens, Ohio, USA) were used for culture. Influenza virus types A & B (Inf A & B), parainfluenza virus (PIV), respiratory syncytial virus (RSV), and adenovirus (ADV) were identified by indirect immuno-fluorescent staining. Medical records of the patients with positive virus cultures were reviewed retrospectively. RESULTS: One or more viral agents were isolated from 1682 specimens (25.7%). The pathogens identified were RSV 37.2%, ADV 19.9%, Inf A 18.9%, PIV 17.5% and Inf B 6.4%. The most frequent pathogen of pneumonia and acute bronchiolitis was RSV and that of croup was PIV. Upper respiratory tract infections were more prevalent in adults and the most frequently caused by influenza virus. Influenza virus itself was more frequently isolated in children less than six years old, which was different from previous reports. Influenza virus was mostly isolated in the winter and spring, while RSV was usually isolated from early fall with a peak incidence in the winter. Inf A and RSV showed a dampening effect on the occurrence of other viruses during their major epidemic. PIV was mostly detected in the spring and summer. ADV was isolated throughout the whole year. CONCLUSIONS: The epidemiological characteristics of respiratory virus infections in Seoul and the neighboring areas in 2004-2006, were similar to the findings of previous reports except for some minor changes. These findings could be useful to clinicians in managing their patients.

Expression of Granulocyte Colony-Stimulating Factor Receptor (G-CSFR) and Clinical Correlates in Acute Leukemia / 대한혈액학회지

BACKGROUND: Granulocyte colony-stimulating factor (G-CSF) is commonly used to reduce leukopenic period during treatment of malignancy including acute leukemia. Leukemic blasts expressing granulocyte colony-stimulating factor receptor (G-CSFR) were reported and also may proliferate in response to therapeutic administration of G-CSF. However, it is not clear whether G-CSFR expression on leukemic blasts is related to clinical outcome such as leukocyte recovery or leukemia relapse. Current study evaluated expression of G-CSFR in acute leukemia and correlated with hematologic and clinical parameters. METHODS: Peripheral blood or bone marrow aspirate was evaluated from 20 patients with acute myelogenous leukemia (AML) and 10 with acute lymphoblastic leukemia (ALL), 2 with acute undifferentiated leukemia (AUL), 1 with acute biphenotypic leukemia (ABL), 1 with acute mixed-lineage leukemia (AMLL). G-CSFR expression was analyzed using flow cytometry and was correlated with immunophenotype and response for chemotherapy. RESULTS: More than 20% of blasts were positive for G-CSFR in 65% (13/20) of AML, 40% (4/10) of ALL, and all negative in ABL, AMLL, and AUL. Except that all 6 monocytic lineage leukemias (M4, M5) and all three cases of ALL with CD33 expression were positive, no consistent correlation was observed among G-CSFR expression pattern, type of acute leukemia, response to induction therapy and relapse (P>0.05). CONCLUSION: Current study revealed G-CSFR was expressed on not only myelogenous leukemic cells but also lymphoid ones. Although our data suggest G-CSFR expression does not affect therapeutic outcome, it remains to be determined whether G-CSF therapy is safe in G-CSFR-positive acute leukemia.

Comparison of the Activities of Platelets with Different Cryopreservation Methods / 대한혈액학회지

BACKGROUND: The limit and the optimal method of the cryopreservation of platelets have not been determined. Moreover, the functional changes platelets after cryopreservation were not clearly defined. This study was conducted to determine the limit and optimal method for cryopreservation of platelet concentrates. METHODS: We compared the recovery, expression of membrane GpIb, GpIIb/IIIa, and aggregatory function of the platelets preserved in three different conditions. Platelet samples were collected from four healthy volunteer donors by apheresis, and placed in 22degrees C agitator for standard preservation. For cryopreservation, after treating 5% DMSO, platelets were either inserted directly in -80degrees C freezer or in liquid nitrogen after computer-controlled rate freezing. After storage for 5 days, 1 week, 2 weeks, 3 weeks, 4 weeks, and 12 weeks, platelets were thawed and analyzed for the evaluation of in vitro functions. RESULTS: Platelets preserved at 22degrees C or cryopreserved with each condition displayed equivalent recovery (90%). With each cryopreservation procedures, platelets showed moderate loss of GpIb and retained more than 90% of GpIIb/IIIa in comparison with fresh platelets. At the third week, loss of GpIb in the directly frozen platelets was augmented compared with those of controlled rate frozen group. The aggregatory response to ristocetin began to decrease drastically after storage for 5 days in platelets frozen by each procedures and to less than 5% at 12 weeks of storage. However, controlled rate frozen platelets retained more aggregatory response to ristocetin and surface GpIb expression than those of directly frozen platelets at 3, 4, 12 weeks of storage. CONCLUSION: This study showed the possibility of moderate preservation of in vitro functions of frozen-thawed platelets after 12 weeks of storage compared with those of the liquid stored 5-day old platelets.

Bone Marrow Expression and Plasma Concentration of Basic Fibroblast Growth Factor in Patient with Idiopathic Thrombocytopenic Purpura / 대한진단검사의학회지

BACKGROUND: Basic Fibroblast Growth Factor (bFGF) is known to be closely related to myelofibrosis and hematopoiesis including magakaryopoiesis. The main bone marrow finding in patients with idiopathic thrombocytopenic purpura (ITP) is an increased megakaryopoiesis without myelofibrosis. Purposes of this study are to evaluate the changes in bFGF expression pattern in the bone marrow of patients with ITP and to correlate them with the plasma concentrations of bFGF. METHODS: Paraffin-sections of bone marrow biopsies from 17 cases ITP and 7 cases normal controls, without pathological alterations, were investigated by immunohistochemistry for bFGF and CD68. The plasma levels of bFGF were evaluated by enzyme immunoassay in 7 cases of ITP and controls. RESULTS: The bFGF was strongly expressed in stromal cells and weakly in megakaryocytes in normal controls. The density of the bFGF-expressing stromal cells was decreased in 70% (12/17) of the patients with ITP, compared with none in the other controls. The number of stromal cells in patients with ITP was similar to those in the control groups. The bFGF plasma levels were significantly lower in almost all the ITP patients compared to the control group. CONCLUSIONS: The results indicate that concentrations of bFGF in plasma and bone marrow stromal cells of ITP were decreased. Although the mechanism of low cellular and plasma concentrations of bFGF needs to be elucidated, these findings may complement the serologic and morphological diagnosis of ITP.

Management of Clinical Laboratory Staffs in Korea (II) / 임상검사와정도관리

BACKGROUND: For the efficient management of clinical pathology laboratory, not only the economic side but also the quality of test should be considered. Therefore, the authors investigated the status of laboratory in the management point including the status of technical personnel by survey and tried to find out the fundamental status of work environment, laboratory automation, computerization, and to evaluate the efficiency of management of clinical pathology laboratories in Korea. METHOD: The questionnaires included those for investigating laboratory management status, qualities of laboratory personnels, workloads, test items and numbers of tests performed annually. It contained 22 items with 32 detailed sub-questionnaires for laboratory personnel survey, and 9 items with 106 detailed sub-questionnaires for facilities. We sent those three times to 400 laboratories that were participating in the National External Quality Assessment Scheme in Korea and analysed the answers by descriptive statistics, ANOVA, t-test and correlation analysis. RESULTS: The replies were from 96 laboratories and 326 technical personnels. Among the 96 laboratories, there were 71 full time employed clinical pathologists. The annually performed number of tests were increased with the increased the size of laboratory, that was classified by number of personnels. As the laboratory size was increased, part time personnels, cases of test per technical personnel, automation and computerization, satisfaction for their work (58,2%) were increased but decreased satisfaction of salaries. CONCLUSIONS: We surveyed the present employee status of laboratory personnels and status of laboratory and offered fundamental data of clinical laboratory management in Korea.

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.

CD14/CD16 Subpopulations of Circulating Monocytes in Type 2 Diabetes Mellitus Patients with/without Coronary Artery Disease / 대한임상병리학회지

BACKGROUND: Coronary artery disease (CAD) is one of the most important causes of mortality and morbidity among patients with Type 2 Diabetes Mellitus (DM). Monocytes play a major role in the development of atherosclerotic lesions. The majority of circulating monocytes express high levels of the lipopolysaccharide receptor antigen (CD14) and low of the immunoglobulin Fc receptor III (CD16). Changes in the phenotype of circulating monocytes have been reported in patients with type 2 DM and CAD. The purpose of this study is to characterize the circulating blood monocyte subpopulations as potential cellular markers of systemic immunological abnormalities in CAD and DM and to evaluate the relationship among other independent risk factors. METHODS: Two-color immunofluorescence and flow cytometry was employed for evaluation of the monocyte subpopulations. CRP, HbA1c and lipid profile in patients with CAD (n=36) were also compared with those in a group without CAD (n=40) and healthy nondiabetic individuals (n=56). RESULTS: The CD14+(dim)/CD16+ (P<0.001) and CD14++/CD16- (P=0.011) subpopulations were significantly elevated in both the Type 2 DM patients' groups, with and without CAD, and compared with normal controls; and further, there were no significant differences between the diabetic groups. There was no correlation of the CD14+(dim)/CD16+ monocytes to any clinical parameter except for the number of CD14++/CD16-, which were positively correlated with the serum HbA1c (r=0.705, P<0.001). CONCLUSTIONS: In conclusion, the circulating blood monocyte subpopulations may not be the specific markers of atherogenesis in DM patients; however, these results suggest that they may play a role in systemic immunologic abnormalities in DM.