The Allplex Respiratory Panel 1/2/3 (All16) is a multiplex PCR assay for detecting 16 respiratory viruses with influenza A virus (FluA) subtyping, and the first clinical assay based on multiple detection temperatures. We compared the results between All16 and Anyplex II RV16 (Any16) in 426 clinical samples. Samples showing discrepancies between the two tests were further tested using monoplex PCR.
View Article and Find Full Text PDFVariant Philadelphia chromosome translocations involving chromosomes other than 9 and 22 have been reported in 5-10% of patients with chronic myeloid leukemia (CML). As part of the three-way variant t(9;22;11) in patients with CML, 11q24 is a novel region that has not previously been investigated. A 22-year-old male exhibiting chronic phase CML developed a recurrence of the same phase subsequent to the interruption of imatinib treatment and showed the same chromosomal abnormality, t(9;22;11)(q34;q11.
View Article and Find Full Text PDFPrompt malaria diagnosis is crucial so antimalarial drugs and supportive care can then be rapidly initiated. A 15-year-old boy who had traveled to Africa (South Africa, Kenya, and Nigeria between January 3 and 25, 2011) presented with fever persisting over 5 days, headache, diarrhea, and dysuria, approximately 17 days after his return from the journey. Urinalysis showed pyuria and hematuria.
View Article and Find Full Text PDFIsodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. We characterized the isodicentric Y chromosome from an azoospermic male by fluorescence in situ hybridization (FISH) and PCR. The patient was a 33-year-old man who visited our hospital for evaluation of infertility.
View Article and Find Full Text PDFMYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner. Herein, we describe a case of precursor B-cell lymphoblastic leukemia harboring a MYC rearrangement with a novel non-immunoglobulin partner locus. The patient was a 4-yr-old Korean boy with ALL of the precursor B-cell immunophenotype.
View Article and Find Full Text PDFBackground: Malignant hyperthermia (MH) is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of the cases. However, the search for known and novel mutations in the RYR1 gene is hampered by the fact that the gene contains 106 exons.
View Article and Find Full Text PDFBackground: JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN.
Methods: We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively.
Klinefelter syndrome (KS) is the most commonly diagnosed X chromosome aneuploid syndrome among males. The association between hematologic malignancies such as non-Hodgkin lymphoma and leukemia and KS has been established recently on the basis of numerous case reports and a large cohort study. The risk of chronic myeloproliferative disease (MPD) as a hematologic malignancy in KS, however, has not been evaluated to date.
View Article and Find Full Text PDFBackground: In smokers, smoking causes many disease entities including cancers, chronic pulmonary diseases and cardiovascular diseases. Passive smoking is also accepted as a carcinogen and its adverse health effects are emphasized. We measured blood vitamin A, C, E (alpha-, beta- and gamma-tocopherol), coenzyme Q10 and urine cotinine concentrations in nonsmokers and smokers.
View Article and Find Full Text PDFGranulocytic sarcoma of the uterine adnexa is a rare event. A 50-year-old woman, who had previously been diagnosed as chronic myeloid leukemia (CML), but had a complete hematologic response, presented with lower abdominal pain and a large pelvic mass involving the right uterine adnexa region and extending to the right posterior wall of the bladder and right distal ureter. A biopsy of the uterine adnexa revealed granulocytic sarcoma, and a subsequent bone marrow biopsy confirmed the diagnosis of CML in the blastic phase.
View Article and Find Full Text PDFBackground: Oral anticoagulation with warfarin requires routine monitoring of prothrombin time to maintain the international normalized ratio (INR) within the appropriate therapeutic range. Coagu- Chek XS (Roche Diagnositic, Germany) is a portable coagulometer that measures the INR. We evaluated the precision and accuracy of CoaguCheck XS by comparing it with CA-1500 (Sysmex, Japan).
View Article and Find Full Text PDFBackground: Immature platelet fraction (IPF) is the percentage of reticulated platelet (RP) of total platelet count. We measured an IPF reference range using XE-2100 blood cell counter with upgraded software (Sysmex, Japan) and evaluated the clinical utility of this parameter for the laboratory diagnosis of thrombocytopenia due to an increase in peripheral platelet destruction.
Methods: Peripheral blood samples collected into K2EDTA (Beckton Dickinson, USA) were analyzed at Chonbuk National University Hospital.
The objective of this study was to investigate if antibody to cyclic citrullinated peptide (anti-CCP) is detected in sera of patients with chronic hepatitis B virus (HBV) infection. Serum anti-CCP and IgA, IgG, and IgM rheumatoid factor (RF) isotypes were measured by enzyme-linked immunosorbent assay on 176 non-arthritic patients with HBV infection. IgA RF, IgG RF, and IgM RF were detectable in 29.
View Article and Find Full Text PDFWe present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal.
View Article and Find Full Text PDF