A Case of Cri-du-chat Syndrome with Genitourinary Anomaly / 대한주산의학회잡지

No abstract available.

Detection of Neisseria meningitidis, Haemophilus influenzae, Streptococcus pneumoniae and Streptococcus agalactiae using 16S rRNA gene / 대한임상병리학회지

BACKGROUND: Delayed treatment of acute bacterial meningitis often causes death or serious neurological defects. Rapid and accurate diagnosis is very important for effective treatment. Although the Gram stain and latex agglutination test for major causative bacteria, Neisseria meningitidis, Haemophilus influenzae, Streptococcus pneumoniae and Streptococcus agalactiae, are useful for early detection of acute bacterial meningitis, their sensitivity is not satisfactory. In this study, we purpose to develop a PCR strategy for the simultaneous detection of N. meningitidis, H. influenzae, S. pneumoniae and S. agalactiae. METHODS: Primers were designed from the 16S rRNA genes of N. meningitidis, H. influenzae, S. pneumoniae and S. agalactiae, which were constituted with 3 senses and 5 antisenses, and 7 primer pairs. The PCR assay was divided into two steps, the first PCR resulted in a general bacterial amplicon with universal primers, and the second were performed with species specific primer pairs in four combination reaction tubes. PCR sensitivity and specificity were tested to clinical isolates of 4 N. meningitidis, 3 H. influenzae, 14 S. pneumoniae, 6 S. agalactiae, 14 Staphylococcus epidermidis, and 25 reference strains of different species. RESULTS: The species specific primer pairs showed specific DNA amplification to all clinical isolates tested. All 25 reference strains of different species and S. epidermidis were distinguished from N. meningitidis, H. influenzae, S. pneumoniae and S. agalactiae except for Pseudomonas aeruginosa, Neisseria and Candida species, The PCR detection limit for S. agalactiae was 200 CFU. CONCLUSIONS: The seminested PCR using bacterial 16S rRNA gene was sensitive and specific for the detection of Neisseria species, H. influenzae, S. pneumoniae and S. agalactiae. This results warranted the application of this method to cerebrospinal fluids to diagnose bacterial meningitis.

1 Case of Primary Plasma Cell Leukemia associated with Esophageal Cancer / 대한임상병리학회지

He died after 2 months from diagnosis due to massive bleeding in esophageal lesion with complication. He died after 2 months from diagnosis due to massive bleeding in esophageal lesion with complication. We report one case of plasma cell leukemia associated with esophageal cancer. A 71-year-old man was admitted due to dysphagia and diagnosed as undifferentiated squamous cell cancer based on esophagogram and biopsy. In peripheral blood smear, large parcent of plasma cell like cells are found, so bone marrow examination was done and 52.5% of plasma cells are found with unusual morphology such as convoluted, multilobulated nuclei. Immunochemical stain and immunophenotypic features of these cells were suggestive of plasma cell origin with positivity for methylgreen pyronin positivity and CD38, CD56 positivity. Serum rotein electrophoresis and immunoelectrophoresis showed monoclonal gammopathy of Ig G ,k type. This patient had no history of previous multiple myeloma or other maligancy. He died after 2 months from diagnosis due to massive bleeding in esophageal lesion with complication.

Analysis of PCR-Based VNTR Markers to Evaluate Engraftment Status after Bone Marrow Transplantation / 대한임상병리학회지

BACKGROUND: The evaluation of engraftment after BMT may be effectively accomplished by the analysis of genomic polymorphism, such as variable number of tandem repeat (VNTR). Discrimination potential (PD) and allelic profile of VNTR locus might be varied widely between races and geographic areas. Thus PCR-based VNTR loci to establish test panel useful in evaluating engraftment status of Korean patients after BMT were analyzed. MATERIAL AND METHODS: Thirty normal adults (15 males and 15 females), and each patient with acute lymphoblastic leukemia and severe aplastic anemia who had undergone allogeneic BMT were tested. Genomic DNAs extracted from peripheral blood lymphocytes or hair follicles were subjected to three PCR long tandem repeats (LTRs) and fifteen PCR short tandem repeats (STRs) loci analysis using silver-stain mode of detection. RESULTS: The PCR sensivity of VNTR system tested, and detection limit of minor component in mixing experiment, were 100 pg and 0.1%, respectively. The most informative marker was ACTBP2 with 93.2% of PD, and 98.0% of actual PD (APD). The most informative test panel was ACTBP2, D3S2386 and D1S1768 loci-combination with 99.6% of PD and 100.0% of combined APD. CONCLUSIONS: STRs, especially combination of ACTBP2, D3S2386, and D3S11768, were thought to be very useful screening markers for evaluating engraftment status in nonsibling allogeneic BMT. But most of allogeneic BMT are carried out between siblings, who have similar genetic marker each other, so further evaluation is need in sibling-BMT.

ider (9) (q10)t (9;22) (q34;q11.2) as Secondary Karyotypic Aberration of Chronic Myelogeous Leukemia / 대한임상병리학회지

Although occasional patients with chronic myeloid leukemia (CML) have chromosomal changes other than Philadelphia chromosome early in the disease, in typical cases the 9;22 translocation remains the sole abnormality throughout the disease course in chronic phase. When disease progression occurs, however, 75-80% develop additional chromosome aberrations. These secondary changes sometimes precede the more aggressive manifestations hematologically and clinically and thus may serve as valuable prognostic indicators. ider (9) (q10)t (9;22) (q34;q11.2) is very rare and a recurrent chromosomal abnormality associated with acute lymphoblastic leukemias (ALL) and lymphoblastic crisis of CML. And ider (9) (q10)t (9;22) (q34;q11.2) is a lymphoid-specific rearrangement and the patients with this abnormality are of older age on average. They commonly show pre-B cell lineage immunophenotype and L2 morphology. We report a case of ider (9) (q10)t (9;22) (q34;q11.2) as secondary aberration in a patient with lymphoblastic crisis of CML.

A case report of primary peritonitis and sepsis caused by Vibrio metschnikovii / 대한임상병리학회지

Vibrio metschnikovii is worldwidely distributed in the aquatic environment and human infections are very rarely associated, such as septicemia, urinary tract infection, wound infection, and peritonitis. V. metschnikovii is negative in nitrate reduction and oxidase reaction, and these findings are different from other vibrio species. V. metschnikovii was isolated from the ascitic fluid and blood of a patient with peritonitis, sepsis and renal insufficiency. This patient was a 41-year old man who suffered from post-necrotic liver cirrhosis, chronic hepatitis B, gastric ulcer, esophageal varix bleeding, and alcoholism. He had neither history of ingestion of seafoods nor exposure to seawater before onset of illness. He was successfully treated with antimicrobial agents. This is the first case report of septicemia and peritonitis by V. metschnikovii in Korea.

Transferrin Analysis by Immunofixation for The Diagnosis of Cerebrospinal Fluid Leakage / 대한임상병리학회지

BACKGROUND: CSF can be leaked from the nose or ear due to fractures, tumors or surgical procedures in the skull base region, and the threat of impending meningitis necessitates early identification of it. Since 2-transferrin occurs practically in cerebrospinal fluid (CSF) and not in other body fluid, its detection from the rhinorrhea or otorrhea can be used for the diagnosis of CSF leakage. We carried out immunofixation-silver stain (IF-SS) method for detection of 2-transferrin in the CSF in order to know optimal identification condition of specific cerebrogenic marker. METHODS: The fresh CSF sample was collected by spinal tapping. 2-Transferrin was estimated by quantifying the total transferrin by nephelomertry (Behring, Germany). 2-Transferrin of CSF was identified by electrophoresis using Titan gel high resolution protein system (Beckman, USA), immunofixation with anti-human transferrin antibody (Dako, Denmark) and then stained with silver nitrate. Serial dilutions of CSF were performed to know the detection limit of 2-transferrin. To know the influence of blood mixing, tests for mixed specimen of serum and hemolysate in CSF were performed. To evaluate the specimen storage condition, tests for different temperature and storage time were performed . RESULTS: By IF-SS method, identification limit of 2-transferrin was 0.5 mg/dL in 1:4 diluted CSF with distilled water. And 2-transferrin could be detected in condition of mixing serum protein (7.5 g/dL) or hemoglobin (13 g/dL) with CSF up to 6 : 4. At various sample storage condition, such as 37degrees C, room temperature, and 4degrees C, band intensity decreased abruptly after 1 day, and it was not detected 5 days later. Mean while, in -20degrees C and -70degrees C, 2-transferin band was detected after 10 days. CONCLUSIONS: IF-SS method was sufficiently sensitive and specific for invalidation by blood contamination, and seems to be used as effective identification of 2-transferrin in the CSF without sample concentration, less diagnostic test for CSF leakage.

PCR-based Analysis for Y-specific Sequence in Patients with Turner Syndrome / 대한임상병리학회지

BACKGROUND: In patients with Turner syndrome, it is known that the presence of Y-specific sequence is correlated with the risk of gonadoblastoma development. Y-specific sequence are frequently present in marker chromsome which can not be easily identified by cytogenetic method, because it is very small in size and unstable during mitosis. So, in this study, karyotype of 30 patients with Turner syndrome analyzed by cytogenetic method and the presence of Y-specific sequence was identified by polymerase chain reaction (PCR). METHODS: Cytogenetic analysis was performed by Phytohemaggulutinin (PHA)-stimulated lymphocyte culture and G-banding by Wright stain without trypsin treatment. Four Y-specific sequences were amplified by PCR using specific primer for Sex determination on Y (SRY), Ameglonin like gene (AMGL), Y1.1-1.2 repeat sequence (Y1.1-1.2) and B fragment of DYZ1 (DYZ1-B). DNAs for PCR analysis were extracted from peripheral blood lymphocytes of preserved cell pellets which were harvested for cytogenetic analysis. RESULTS: Cytogenetic analysis revealed various karyotypes in Turner syndrome such as 45,X, 46,X,i(X)(q10), 46,X,del(X) including four cases of 46,X,+mar and three cases of 46,X,+r. It is could not identify Y-chromosome in this 30 patients with Turner syndrome. By PCR, three patients (10%) with Turner syndrome had at least one Y-specific sequence; one case of 45,X karyotype was amplified in SRY; one case of 45,X[9]/46,X,i(X)(q10)[1]/46,XX[10] was amplified in AMGL, Y1.1-1.2; one case of 46,X,i(X)(q10) was amplified in SRY, AMGL and Y1.1-1.2. None of case was amplified in DYZ1-B. CONCLUSIONS: PCR for amplification of Y-specific sequence was thought to be useful in detection of Y-chromosome, which might be helpful in early diagnosis of gonadoblastoma in patients with Turner syndrome.

Three cases of multiple myeloma showing ABO discrepancy / 대한수혈학회지

We report 3 cases of multiple myeloma showing ABO discrepancy with missed reaction in serum typing. They showed markedly decreased immunogolobulin level except for monoclonally increased abnormal immunoglobulin. Their blood group was confirmed by saliva test and addition of anti-globulin reagent. As serum immunoglobulin level is raised, the reactivity in serum typing showed improving tendency and ABO discrepancy appeared when immunoglobulin was markedly decreased.

Evaluation of Platelet Concentrates Stored in the Second Generation Platelet Storage Containers / 대한수혈학회지

BACKGROUND: Platelets can be stored for 3days at 22degrees C in conventional plastic bags plasticizer with di-(2-ethylhexyl)phthalate(DEHP). However, with such a short interval for storage, platelets could not be made easily available for thrombocytopenic patients. In vitro platelet function during 5 days of storage at 22degrees C was studied in a new plastic bag (second generation bag) which contained as plasticizer a tri (2-ethylhexyl)trimellitate and developed in Korea (Boin Medica Co.). METHODS: In vitro function (mean platelet volume, platelet distribution width, pH, platelet aggregation, platelet morphology and swirling phenomenon) was evaluated in 20 units of platelet concentrate at day 0, 2, 5 while mixing in 60 rpm platelet rotator at 22degrees C. RESULTS: At day 5, platelet count, mean platelet volume, platelet distribution width, pH, platelet aggregation, platelet morphology and swirling phenomenon were well maintained. pO2, pCO2 and HCO3- were 65.6mmHg, 43.4mmHg and 12.3mmol/L at day 5, respectively. CONCLUSION: The data indicate that the use of the new platelet storage container will permit satisfactory storage for at least 5 days at 22degrees C.

A Family Case of Hb Queens 34 (B15)Leu-->Arg / 대한혈액학회지

A 36-year-old pregnant woman with gestational diabetes mellitus and anemia was found to have an abnormal Hb (comprising 18.7%) in the automated midget low pressure cation- exchange chromatography (DiaSTATTM, Bio-Rad, USA) for Hb A1c assay. The abnormal Hb revealed an abnormal peak emerged slightly later than normal Hb A1 in DiaSTATTM chromatogram, subsequently confirmed by cellulose acetate membrane electrophoresis and isoelectric focusing. This hemoglobinopathy with high isoelectric point was noted and abnormal chain globin was prepared by chromatography. Family study was carried out and this chain variant was also found in four other family members, and all of them had no clinical abnormalities, except well controlled diabetes. As the results from peptide mapping, amino acid analysis and sequencing, abnormal Hb of the patient was finally identified as Hb Queens[ 34 (B15)Leu-->Arg] without clinical abnormalities.

Acute Lymphoblastic Leukemia with Philadelphia Chromosome and Monosomy 7 / 대한임상병리학회지

BACKGROUND: The combination of Philadelphia chromosome (Ph) and monosomy 7(-7) was rarely observed in acute lymphoblastic leukemia (ALL). With the results from immunophenotyplc and molecular analysis, Philadelphia chromosome positive ALL with monosomy 7[Ph(+)/-7] has been considered that it may be derived from neoplastic transformation at the pluripotent stem cell level. We compared the clini-cal, laboratory, and hematological findings between 5 cases of Ph(+)/-7 and 5 cases of Ph(+) without monosomy 7 [Ph (+) /N7]. METHODS: During the period from January, 1995 to December, 1996, total 72 cases of ALL were confirmed among 259 cases of hematologic malignancy with bone marrow cytogenetic analysis. Among 72 ALL cases, 5 cases of Ph(+)/-7(monosomy 7 or 7q abnormalities) were compared with Ph only or Ph without monosomy 7(ph(+)/N7] on the hematological, immunophenotypic, other laboratory, clinical findings and event ree survival (EFS) The karyotyping of the bone marrow specimens was analysed byshort-term unsynchronized culture methods such as overnight colcemid treatment and 24 hours incubation following ethidium bromide treatment. RESULTS: The mean age of Ph(+)/-7 was 30.6+/-12.8 years, and it was significantly different from that of Ph(+)/N7 (p=0.009), Four cases of Ph(+)/-7 were classified as ALL L2 subtype, and 2 cases revealed CNS involvements. Immunophenotyping was positive in CD10, CDl9, CD2O, CD22 and HLA-DR. But one case revealed e-B-lymphoid lineage with positivity in CD34, CDl3, and CD33. The response to chemotherapy and EFS was very poor in Ph(+)/-7 group, and the mean EFS was 3.2+/-1.9 months(p=0.014). All of cases showed induction on failure in chemotherapy, relapsed with bone marrow, CNS and extramedullary involvements, and expired due to sepsis. CONCLUSIONS: Ph(+)/-7 ALL had very Poor clinical course with being resistant to chemotherapy and unfavorable prognosis, revealed L2 subtype by FAB classification, and was slightly older in ages compared with Ph(+)/N7 ALL.

A Case of Myeloid Blast Crisis of Ph-positive Chronic Myeloid Leukemia with t(3;21)(q26;q22) / 대한임상병리학회지

The t(3;21) (q26;q22) is associated with chronic myelogenous leukemia in blast crisis, leukemia evolving from therapy-related myelodysplasia, and with leukemia following other hematopoietic proliferative diseases. The t(3;21) is rare secondary aberration in blast crisis of Philadelphia(Ph)-positive chronic myeloid leukemia, which may be restricted to patients entering myeloid blast crisis. We report here in one case of chronic myeloid leukemia in blast crisis which reveals both t(9;22) (q34;q11), and t(3;21) (q26 ;q22). A 62-year-old male was diagnosed as chronic myeloid leukemia 5 years ago, received hydroxyurea therapy, and admitted because of gingival bleeding and fever. On examination, splenomegaly and leukocytosis with proliferated blasts(91%) in peripheral blood were noted. Bone marrow aspirate showed hypercellularity with severe blast proliferation(92.5%) which revealed all negative in peroxidase and PAS stain. Cytogenetic study of bone marrow cells showed the karyotype 46, XY, t(3;21) (q26;q22), t(9;22) (q34;q11), which might be suspected as myeloid blast crisis. Above finding was confirmed by the result of immunophenotyping(CD13 43.6%, CD34 68.2%, HLA-DR 91.6%). He received intensive chemotherapy, but still sustained proliferation of blasts was noted . The follow up cytogenetic study was as follows: 46, XY, 4(3;21) (q26:22), t(9;22) (q34;q11)/46, XY, t(3;21)(q26;q22), del(8) (q22), t(9:22) (q34,q11)/46, XY (16/3/1). He died soon from severe pancytopenia and sepsis.

Changes of Plasma Components by the Plasma Exchange / 대한수혈학회지

Therapeutic plasma exchange is used in almost every condition in which there is a plasma factor thought possibly to the etiology or pathogenesis of a disease or one of its manifestations. In order to evaluate plasma exchange using fresh frozen plasma as replacement solution, eighty four therapeutic plasma exchanges were carried out in eighteen patients. In standardized procedures, 1.5 times the calculated plasma volume was replaced with a Hartman's solution and fresh frozen plasma. Anticoagulation was achieved using a whole venous blood to 2.5% trisodium citrate in the ratio of 10 to 1. Total calcium, phosphorus, glucose, urea nitrogen, creatinine, bilirubin, alkaline phosphatase, amylase, creatine kinase, IgG, C3, total white and red blood cell count, hemoglobin, and differential count were not significantly affected by the procedure. In contrast, serum cholesterol, total protein, albumin, aspartate aminotransferase, alanine aminotransferase, ionized calcium, IgM, C4 and platelet were significantly decreased by the plasma exchange. All these measurements had returned to the first pre-exchange level within 24 hours, while the C4 and platelet count took between 24 and 72 hours, and the IgM level, between 72 hours and 1 week. These data indicated that in an isovolemic plasma exchange there was a transient but rapidly reversible effect on all the components studied, with C4 and platelet count, returning more slowly to pre-exchange level than the others, and IgM levels responding the slowest. In summary, plasma exchanges using fresh frozen plasma as replacement solution were assumed to be not significantly affected the function of various organs.

The Changes of Cell Mediated Immunity Correlated with Severity of Head Injury

Severe head injury results in the suppression of cellular immunity associated with dysfunctioning of effector lymphocytes, such as helper T cells(CD4) (and cytotoxic T cells(CD8). Despite progress in the management of increased intracranial pressure following head injury, infection remains the most common complication and the primary cause of prolonged hospitalization and death. This study attempts to assess the cellular immune function following head injury according to the degree of severity, and to establish the clinically available parameters of cell mediated immune(CMI) function, which can then be used for coherent prediction of infection risk. Eighteem head injury patients without severe systemic injury, who divided into three subgroups depending on the severity of head injury, were estimated with the use of CMI multitest kit(Merieux Institute, France) to test delayed-type hypersensitivity(DTH) and enumerated the circulating lymphocyte subpopulation(pan T-cell marker CD3, helper T cell marker CD4, cytotoxic T cell marker CD8 and B-cell marker CD19) on the 1st, 7th, and 21th day of injury. Patients were monitored for evidence of infection for this period. Fourteen patients had no reaction to any antigens of the DTH skin test(anergy) and the remaining four patients had also some degree of anergy. Seven patients became infected and all of them were anergic. There were significant decrease of circulating effector T lymphocytes, both CD4-positive and CD8-positive cells, within 24 hours of injury in the mild as well as the moderate and severe head injury group. CD4-positive cells were nearly completely recovered by the 7th day of injury. CD8-positive cells had sustained significant decrease even after 3 weeks of injury. There was no significant change in pan T-cells(CD3-positive cells) and B-cells(CD19-positive cells). The results suggest that DTH skin test and effector T cell enumeration are both relatively simple and highly sensitive parameters for monitoring CMI function. Especially, anergy of DTH skin test can be used for indicator to predict risk of infection. Mild as well as moderate and severe head injuries may result in the suppression of cellular immunity associated with the dysfunctioning of effector T cell.

Effects of plateletpheresis on platelet aggregation in healthy donors / 대한수혈학회지

No abstract available.

Amniotic fluid alpha-fetoprotein levels during midtrimester pregnancy (I) / 대한주산의학회잡지

No abstract available.

Analysis of blood transfused for past five years at Dongsan hospital / 대한수혈학회지

No abstract available.

Analysis of blood transfused for past five years at Dongsan hospital / 대한수혈학회지

No abstract available.

Analysis of 107 cases of chromosomal abnormalities / 대한임상병리학회지

No abstract available.