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A Case of Chronic Myelogenous Leukemia with Abnormal Expression of N-CAM (CD56) Adhesion Molecule on CD34-negative Non-blastic Myeloid Cells.

Kyung A LEE ; Sookwon RYU ; Kyung Hee KIM ; Yunjung CHO ; Young Kee KIM ; Byung Soo KIM

The Korean Journal of Laboratory Medicine.2004;24(1):1-6.

The CD56 antigen is a cell adhesion molecule and its expression on tumor cells is thought to play a role in CD56-positive lymphomas and leukemias with unusual sites of involvement. As to chronic myelogenous leukemia (CML) and related blastic crisis, CD56 expression is not generally considered as a part of the CML phenotype and has rarely been reported in CML and other chronic myeloproliferative dirsorders (CMPD). We reported a case of CML expressing the CD56 antigen on the CD34-negative myeloid cells presented with extramedullary granulocytic sarcoma and examined the CD56 reactivity on bone marrow biopsy sections in 9 patients with CMPD. To assess the abnormal expression of the CD56 antigen on myeloid and progenitor cells from CMPD, immunohistochemical staining and flow cytometric analysis were performed on bone marrow biopsy sections and aspirate specimens, respectively. Of nine patients with CMPD, a case of CML in blastic crisis with extramedullary granulocytic sarcoma showed an abnormal expression of CD56 on CD34-negative myeloid cells. The expression of CD56 on CML myeloid elements seems to represent an aberrant phenomenon that could affect the pattern of tumor cell dissemination.
Antigens, CD56 ; Biopsy ; Bone Marrow ; Cell Adhesion ; Humans ; Leukemia ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive* ; Lymphoma ; Myeloid Cells* ; Phenotype ; Sarcoma, Myeloid ; Stem Cells

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Cytogenetically Unrelated Clones in Hematologic Malignancies.

Sungeun CHO ; Jungwon HUH ; Chumyung SEONG ; Whasoon CHUNG

The Korean Journal of Laboratory Medicine.2004;24(3):189-193.

BACKGROUND: The origin of hematologic malignancies has been known to be monoclonal. In most cases, the same or obviously related chromosomal abnormliaties are found and cytogenetically unrelated clones are uncommon. We evaluated the prevalence and clinical significance of patients with cytogenetically unrelated clones in hematologic malignancies. METHODS: Included in the study were 324 patients who had been diagnosed with the following hematologic malignancies at Ewha Womans University, Mokdong Hospital: AML (93 cases), MDS (27), CML (51), myeloproliferative disorder (38), acute biphenotypic leukemia (8), ALL (44), CLL (9), multiple myeloma (MM, 40), and Non-Hodgkin's lymphoma with bone marrow involvement (14). RESULTS: The overall prevalence of hematologic malignancies with cytogenetically unrelated clones at diagnosis was 0.9% (3/324). Of AML patients, 1.1% (1/93) had unrelated clones, CLL 11.1% (1/9), and MM 2.5% (1/40). The other hematologic malignancies did not show cytogenetically unrelated clones. The AML patient had add(11)(q23)/add(1)(p36.3); the CLL patient had +12/ del(13)(q22); and the MM patient had +der(1)t(1;13)(p12;q12), -13/-X, +5, +7, -8, -12, -13, add(14) (q32), +15, -16, +19, -20, -22, -22. We also detected an unrelated clone of trisomy 8 in Philadelphia chromosome negative cells from a CML patient who was treated with imatinib mesylate. CONCLUSIONS: Hematologic malignancies with cytogenetically unrelated clones are uncommon. This report highlights the importance of the conventional chromosomal analysis in that an unrelated clone in philadelphia chromosome negative cells may be detected in a CML case.
Bone Marrow ; Clone Cells* ; Diagnosis ; Female ; Hematologic Neoplasms* ; Humans ; Leukemia, Biphenotypic, Acute ; Lymphoma, Non-Hodgkin ; Mesylates ; Multiple Myeloma ; Myeloproliferative Disorders ; Philadelphia Chromosome ; Prevalence ; Trisomy ; Imatinib Mesylate

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Causes and Clinical Characteristics of Patients with Abnormal Sex Differentiation and Development.

Hee Won MOON ; Jung Won HUH

The Korean Journal of Laboratory Medicine.2004;24(3):183-188.

BACKGROUND: Abnormal sex differentiation and development may present ambiguous genitalia in the newborn or lack of secondary sexual characteristics in puberty. A prompt and accurate diag-nosis should be established to minimize or avoid medical, psychological and social complications. The purpose of this study was to evaluate the causes and clinical characteristics of patients with abnormal sex differentiation and development. METHODS: We analyzed 35 patients with abnormal sex differentiation and development. Twenty patients had been considered or reared as males and fifteen patients as females. The diagnostic evaluation consisted of physical examination, hormonal analysis, sonogram, genitogram, gonadal biopsy and cytogenetics. RESULTS: Among the thirty-five patients, 11 patients were hypogonadism, 9 male pseudoherma-phroditism (5 hypospadia, 2 androgen insensitivity syndrome), 6 female pseudohermaphroditism (4 congenital adrenal hyperplasia), 4 micropenis, 4 congenital anomaly and 1 mixed gonadal dys-genesis. Gonadectomy was performed in patients with androgen insensitivity syndrome and mixed gonadal dysgenesis. Sex of rearing and gender assignment were all concordant with the known sex except one patient, who was previously reared as female and finally reassigned as male due to 5-alpha reductase deficiency. CONCLUSIONS: The causes of abnormal sex differentiation and development were variable. There-fore, an accurate diagnosis should be made by history, physical examination, radiologic and laboratory tests. Proper management and sex assignment are needed in accordance with the cause.
46, XX Disorders of Sex Development ; Adolescent ; Amenorrhea ; Androgen-Insensitivity Syndrome ; Biopsy ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Female ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Hypogonadism ; Hypospadias ; Infant, Newborn ; Male ; Oxidoreductases ; Physical Examination ; Puberty ; Sex Differentiation* ; Sexual Development

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Screening and Identification of Metallo-beta-Lactamase Gene in Clinical Isolates of Imipenem-Resistant Pseudomonas Aeruginosa.

In Suk KIM ; Won Il OH ; Jae Hoon SONG ; Nam Yong LEE

The Korean Journal of Laboratory Medicine.2004;24(3):177-182.

BACKGROUND: The therapeutic difficulty due to wide-spread emergence of multiply resistant strains is a major problem in Pseudomonas aeruginosa infection. Carbapenem-resistant P. aeruginosa strains are being isolated with increasing frequency. Clinical isolates of P. aeruginosa with transferable imipen-em resistance due to production of metallo-beta-lactamase (MBL) have been reported. This study was performed to determine the usefulness of the imipenem-EDTA disk test to detect MBL, to examine the prevalence of MBL in a tertiary care hospital in Korea. METHODS: One hundred sixteen P. aeruginosa isolates with reduced susceptibilities to imipenem were collected during the period of 2000-2003 in the Samsung Medical Center. Imipenem-resistant P. aeruginosa isolates were examined for MBL production by imipenem-EDTA disk tests. To detect of blaIMP-1 , blaVIM-1, and blaVIM-2 genes, polymerase chain reactions (PCR) were performed and the positive isolates were confirmed by sequencing. RESULTS: Among 116 clinical isolates of P. aeruginosa, 20 isolates (17.2%) were positive for the imipenem-EDTA disk tests. Nineteen isolates (16.4%) carried VIM-2. Accoroding to PCR results, the sensitivity, specificity, and test efficiency of the imipenem-EDTA disk tests were 89%, 97%, and 96%, respectively. CONCLUSIONS: The imipenem-EDTA disk test is sensitive and specific for detecting VIM producer. VIM-2 may be an important MBL in P. aeruginosa in tertiary care hospitals the Korea. The spread of MBL genes could compromise the future usefulness of carbapenem for the treatment of gram-neg-ative bacilli infections.
Imipenem ; Korea ; Mass Screening* ; Polymerase Chain Reaction ; Prevalence ; Pseudomonas aeruginosa* ; Sensitivity and Specificity ; Tertiary Healthcare

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Simultaneous Isolation of Vibrio vulnificus and Vibrio parahaemolyticus in Blood from a Liver Cirrhosis Patient: Importance of Detection and Identification of Both Species.

Sinyoung KIM ; Dongeun YONG ; Young Sook SOHN ; Kyungwon LEE ; Yunsop CHONG ; Jaeyoon JEON

The Korean Journal of Laboratory Medicine.2004;24(3):173-176.

A 56-year-old woman with underlying liver cirrhosis was hospitalized with chief complaints of fever, which developed after eating raw fish on the previous day. On physical examination, she showed hypotension. Vibrio vulnificus and Vibrio parahaemolyticus strains were simultaneously isolated from blood cultures, and the patient recovered after treatment with antibiotics including cefotaxime. To our knowledge, simultaneous isolation of both V. vulnificus and V. parahaemolyticus from the blood has never been documented before in Korea or any other countries. When blood cultures from a patient with underlying disease such as liver disease show growth of gram-negative bacilli in the summer months, microbiologists in Korea, where Vibrio infection is prevalent, should be aware of the possibility that V. vulnificus and other Vibrio spp. can be isolated simultaneously. An accurate identification of all isolates is important, because antimicrobial susceptibility patterns, severity and prognosis of the infection are different significantly depending on species.
Anti-Bacterial Agents ; Cefotaxime ; Eating ; Female ; Fever ; Humans ; Hypotension ; Korea ; Liver Cirrhosis* ; Liver Diseases ; Middle Aged ; Physical Examination ; Prognosis ; Vibrio ; Vibrio Infections ; Vibrio parahaemolyticus* ; Vibrio vulnificus*

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Clinical Evaluation of i-STAT in the Neonatal Intensive Care Unit.

Soo Youn LEE ; Jong Won KIM ; Sang Gon YI ; Myung Hyun NAM ; Yun Sil CHANG ; Won Soon PARK

The Korean Journal of Laboratory Medicine.2004;24(3):166-172.

BACKGROUND: i-STAT (i-STAT Corporation, Princeton NJ, USA), a hand-held point-of-care testing (POCT) analyzer with rapidity and minimal sample requirement, has the potential to bring about a significant impact on the management of neonates. However, there should be an overall deliberation of the routine use of i-STAT in the neonatal intensive care unit (NICU) as to whether it is technically reliable and cost-effective. The aim of this study was to assess the clinical aspects of the implementation of i-STAT in the NICU. METHODS: We surveyed physicians and nurses to measure the present status of POCT. We ana-lyzed 84 tests performed in the central laboratory, 88 tests by blood gas analyzer in NICU, and 95 tests by i-STAT for NICU patients. We investigated the indications, turnaround time (TAT), cycle time, and impact on patient care in each case during both pre- and post-i-STAT periods. Costs and user acceptability were also examined. RESULTS: Survey responders wanted rapid results but did not accept the responsibility for the quality of POCT. Turnaround time of i-STAT was shorter than that of the central laboratory, but did not make an impact on cycle time. The cost of i-STAT is 2.2 times higher than central laboratory cost, but the users were satisfied with i-STAT mainly because of its small sample volume and speed. Central laboratory testing volume decreased by 14.3% after the introduction of i-STAT. CONCLUSIONS: i-STAT may be acceptable in the NICU setting. However, the behavioral patterns of physicians need to be changed and a selective use of i-STAT is warranted to maximize its cost-effectiveness. Future studies on the clinical outcome are required to substantiate the potential role of i-STAT.
Humans ; Infant, Newborn ; Intensive Care, Neonatal* ; Patient Care

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Serum Level of Carbohydrate Deficient Transferrin and Genetic Polymorphisms of Cytochrome P4502E1 in Patients with Alcoholism.

Myung Geun SHIN ; Dong Wook RYANG

The Korean Journal of Laboratory Medicine.2004;24(3):160-165.

BACKGROUND: The purpose of this study was to investigate genetic polymorphisms of cytochrome P4502E1 (CYP2E1) among healthy control and alcoholic Koreans in order to determine its relation-ship to the development of alcoholism. We also evaluate the diagnostic usefulness of carbohydrate deficient transferrin (CDT) in alcoholism. METHODS: The healthy control group included 72 males and 32 females. Patients with alcoholism included 53 males and 12 females who met DSM-IV diagnostic criteria (American Psychiatric Asso-ciation, 1994) and were admitted to alcoholism treatment units. Rsa I and Pst I restriction fragment length polymorphisms of CYP2E1 gene PCR product determined the genotype of CYP2E1. The serum level of CDT was analyzed by Behring Nephelometer II using %CDT turbidimetric immunoassay kit. RESULTS: The prevalence of CYP2E1 genotypes was 74.0% for type A, 23.1% for type B, and 2.9% for type C in the 104 healthy subjects, and 93.8% for type A and 6.2% for tyupe B in the 65 patients with alcoholism. The allele frequency of c1 and c2 of CYP2E1 was 85.6% and 14.4%, respectively, in the control group and 96.9% and 3.1%, respectively, in the alcoholics. The %CDT range in healthy controls and alcoholics was 0-7.8% and 3.1-21.1%, respectively. The serum CDT level in the patients with alcoholism (14.4 +/-4.5, mean +/-SD) was higher than that of healthy controls (3.2 +/-1.2, ) (P<0.05). The sensitivity, specificity, positive predictive value, negative predictive value, false positive rate, false negative rate, and test efficiency of %CDT were 85.1%, 93.3%, 88.7%, 90.6%, 6.7%, 15.4%, and 89.9%, respectively. CONCLUSIONS: There was a significant difference in frequencies of CYP2E1 genotype (P=0.001) and allele (P=0.003) between patient with alcoholism and control group, and the absence of CYP2E1 c2 allele was associated with alcoholism. Assessment of CDT yielded useful and objective informa-tion in the diagnosis and identification of alcoholism.
Alcoholics ; Alcoholism* ; Alleles ; Cytochrome P-450 CYP2E1 ; Cytochromes* ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Female ; Gene Frequency ; Genotype ; Humans ; Immunoassay ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic* ; Polymorphism, Restriction Fragment Length ; Prevalence ; Sensitivity and Specificity ; Transferrin*

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Usefulness of Urinary Cotinine Test to Discriminate between Smokers and Nonsmokers in Korean Adolescents.

Yoon Hee KANG ; Young Joon LEE ; Sun Young KONG ; Do Hoon LEE ; Young ho YUN

The Korean Journal of Laboratory Medicine.2004;24(3):155-159.

BACKGROUND: Recently we have demonstrated that urinary cotinine test by an enzyme immunoassay is valid to discriminate smoking status among adults. This study was conducted for the same purpose among Korean high school students. METHODS: Questionnaire on smoking and urinary cotinine tests were performed for 1, 267 high school students. Cotinine concentrations in urine were measured by Cotinine Enzyme Immunoassay (Diag-nostic Reagents Inc., CA, USA) on 502X Multiple Chemistry Unit (A&T Co., Tokyo, Japan). RESULTS: The questionnaire was responded by 1, 227 of the 1, 267 students (96.8%); 6 male (0.8%) and 34 female students (5.9%) did not respond. Among the responders, 13.4% (92/685) of male students and 3.0% (16/542) of female students answered as smokers. By using 6 ng/mL as a cutoff, the sensitivity and specificity of the urinary cotinine test were 79.6% (86/108) and 91.4% (1023/1119), respectively. According to the results of urinary cotinine, 96 additional students were presumed as smokers. Of 85 abstainers and 40 non-responders, 41 (32.8%) tested positive for urinary cotinine. CONCLUSIONS: Unlike in a previous study with adults, the urinary cotinine test is shown not to be able to replace the self-reported questionnaire due to the lack of sensitivity for young adolescents. But the urinary continine test is valid to discriminate smokers among purported nonsmokers, espe-cially among non-responders and those who claimed abstinence.
Adolescent* ; Adult ; Chemistry ; Cotinine* ; Female ; Humans ; Immunoenzyme Techniques ; Indicators and Reagents ; Male ; Sensitivity and Specificity ; Smoke ; Smoking ; Surveys and Questionnaires

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Analysis of the Bone Marrow Aspirates with Automated Hematology Analyzer for Assessment of the Bone Marrow Cellularity and Effective Hematopoiesis.

Jayoung KIM ; Myungshin KIM ; Jihyang LIM ; Yonggoo KIM ; Kyungja HAN ; Chang Suk KANG

The Korean Journal of Laboratory Medicine.2004;24(3):149-154.

BACKGROUND: Microscopic examination of the bone marrow (BM) smear has been a major method for the diagnostic and post-therapeutic evaluation of hematologic disease but is laborious and imprecise due to small number of cells counted. Recently, automated reticulocyte counting is available by the automated hematology analyzer. We analyzed the bone marrow aspirates using Coulter GEN S (GEN S) automated hematology analyzer and compared the results with those by the microscopic examination. METHODS: Total nucleated cells (TNC), leukocyte subpopulations, red cell count, hemoglobin and reticulocyte indices of the peripheral blood (PB) and the BM aspirates, were measured by GEN S in 392 samples including 142 normal control samples. Differential counts by microscopic examination of Wright stained BM films were used as a reference. RESULTS: TNC of the BM obtained by automated hematology analyzer correlated with the BM cel-lularity estimated by microscopic examination (r=0.587, P=0.000). The differential counts of neutrophils and monocytes correlated between these two methods (r=0.582, P=0.000, r=0.309, P=0.000). In acute leukemia, TNC of the PB and the BM, and the BM lymphocyte fraction were increased and the BM neutrophil fraction was decreased. In chronic myelogenous leukemia, TNC of the PB and the BM were high but distribution of leukocyte subpopulations was normal. In normal control group, the number of erythroid precusors correlated with the percentages of reticulocyte in the PB (r=0.425, P=0.000), and in patients with increased erythropoiesis, it showed strong correlation with immature reticulocyte fraction (IRF) of the PB (r=0.708, P=0.033). In aplastic anemia, IRF of the PB was reversely correlated to hemoglobin level, but in myelodysplastic syndrome, reticulocyte indices of the PB and the BM had no correlation with hemoglobin level. In patients with increased erythropoiesis, the percentages of reticulocyte in the PB were increased and those of the BM were decreased in proportion to reduction of hemoglobin level in the PB. CONCLUSIONS: Analysis of the BM aspirates using automated hematology analyzer will be useful in screening of pathological hematologic diseases and in estimating the bone marrow cellularity objectively before those by the microscopic examination. In anemia, this study could provide an additional information to evaluate the ineffective hematopoiesis using reticulocyte indices of the PB and the BM.
Anemia ; Anemia, Aplastic ; Bone Marrow* ; Cell Count ; Erythropoiesis ; Hematologic Diseases ; Hematology* ; Hematopoiesis* ; Humans ; Leukemia ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukocytes ; Lymphocytes ; Mass Screening ; Monocytes ; Myelodysplastic Syndromes ; Neutrophils ; Reticulocyte Count ; Reticulocytes

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Male Infertility with Reciprocal Translocation t(1;21)(q11;p13).

Jin Yeong HAN ; Kyeong Hee KIM ; Tae Ho HWANG ; Soon Young MOON ; Jong Il KIM ; Lisa G SHAFFER

The Korean Journal of Laboratory Medicine.2002;22(4):286-288.

Reports of male infertility associated with autosomal translocations are rare. Cases involving translocations between chromosomes 1 and 21 are even rarer. We describe an azoospermic male with a reciprocal translocation t(1;21)(q11;p13). The patient, a 31-year-old man with normal intelligence and phenotype, sought medical attention for evaluation of infertility. He had no history of familial infertility or congenital anomalies. Sperm counts on three occasions all revealed azoospermia. The cytogenetic analysis of blood showed a reciprocal translocation between the long arm of chromosome 1 and the short arm of chromosome 21 in all of the cells examined. We believe that the case presented here is the first reported male infertility with t(1;21) at these particular breakpoints.
Adult ; Arm ; Azoospermia ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 21 ; Cytogenetic Analysis ; Humans ; Infertility ; Infertility, Male* ; Intelligence ; Male ; Male* ; Phenotype ; Sperm Count

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