The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. Flow cytometric immunophenotyping showed blasts positive for myeloid lineage markers and aberrant CD19 expression. Karyotypic analysis showed 46,XX,t(1;9;11)(p34.2;p22;q23) in 19 of the 20 cells analyzed. This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. She achieved morphological and cytogenetic remission after 1 month of chemotherapy and remained event-free for 6 months. Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.
Antigens, CD19/metabolism ; Bone Marrow Cells/pathology ; Child, Preschool ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 9 ; Female ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Myeloid, Acute/*diagnosis/genetics/immunology ; Myeloid-Lymphoid Leukemia Protein/*genetics ; Nuclear Proteins/*genetics ; *Translocation, Genetic

Propionibacterium acnes is a gram-positive anaerobic bacillus and a normal inhabitant of the skin. Although it is often considered a contaminant of blood cultures, it can occasionally cause serious infections, including postoperative central nervous system infections. Here, we report the case of a 70-yr-old man who developed a large cerebral abscess caused by P. acnes 13 months after neurosurgery. Immediate gram staining of the pus from his brain revealed the presence of gram-positive coccobacilli. However, colony growth was observed only after 5 days of culture. Therefore, we performed 16S rRNA gene sequencing of the pus specimen. The isolate was identified as P. acnes. The colonies developed 9 days after the initial culture. The API Rapid ID 32A test (bioMerieux, France) was performed using a colony, but an unacceptable profile was obtained. Then, the pus was transferred into the enrichment broths of the BACTEC FX (Becton Dickinson, USA) and BacT/Alert 3D (bioMerieux, Organon Teknika, USA) systems, but only the BACTEC FX system could detect growth after 5 days. We performed 16S rRNA gene sequencing and API Rapid 32A profiling with a colony recovered from Brucella agar, which was inoculated with the microbial growth in the enrichment broth from the BACTEC FX system. The organism was identified as P. acnes by both methods. This case suggests that 16S rRNA gene sequencing may be a useful alternative for identifying slowly growing P. acnes from specimens that do not show growth after 5 days of culture.
Aged ; Brain Abscess/*diagnosis/microbiology ; Gram-Positive Bacterial Infections/*diagnosis/microbiology ; Humans ; Magnetic Resonance Imaging ; Male ; Neurosurgical Procedures ; Propionibacterium acnes/genetics/*isolation & purification ; RNA, Ribosomal, 16S/chemistry/*genetics ; Sequence Analysis, DNA ; Surgical Wound Infection/*diagnosis/microbiology

A 42-yr-old man with hepatitis B virus associated liver cirrhosis was admitted to the emergency room because of multiple seizures, a history of chills and myalgia over the previous 2 weeks, and 3 days of melena. He was febrile with a temperature of 38.0degrees C. There were no symptoms and signs related to the genitourinary system, skin, or joints. Three sets of blood cultures were obtained and oxidase-positive, gram-negative diplococci were detected after 25.9-26.9 hr of incubation in all aerobic vials. The organism was positive for catalase and oxidase, and was identified as Neisseria gonorrhoeae, using a Vitek Neisseria-Haemophilus Identification card (bioMerieux Vitek, Inc., USA). Further, 16S rRNA sequencing of this isolate revealed a 99.9% homology with the published sequence of N. gonorrhoeae strain NCTC 83785 (GenBank Accession No. NR_026079.1). Acute bleeding by variceal rupture seems to be a likely route of introduction of N. gonorrhoeae from the mucosa into the blood. To the best of our knowledge, this is the first case of gonococcal bacteremia in Korea.
Adult ; Bacteremia/complications/*diagnosis/microbiology ; Catalase/metabolism ; Esophageal and Gastric Varices/complications/*diagnosis ; Gastrointestinal Hemorrhage/*etiology ; Gonorrhea/complications/*diagnosis/microbiology ; Humans ; Ligation ; Liver Cirrhosis/diagnosis ; Male ; Neisseria gonorrhoeae/genetics/*isolation & purification ; Oxidoreductases/metabolism ; RNA, Ribosomal, 16S/chemistry/genetics ; Sequence Analysis, DNA

Streptococcus suis is a swine pathogen that causes meningitis, septicemia, pneumonia, and endocarditis. The first case of human S. suis infection was reported in Denmark in 1968, and since then, this infection with has been reported in many countries, especially in Southeast Asia because of the high density of pigs in this region. We report the case of a patient with septic arthritis and bacteremia caused by S. suis. Cases in which S. suis is isolated from the joint fluid are very rare, and to the best of our knowledge, this is first case report of S. suis infection in Korea. The identity of this organism was confirmed by phenotypic characterization and 16S rRNA sequence analysis. An 81-yr-old Korean woman who presented with fever, arthralgia, and headache was admitted to a secondary referral center in Korea. Culture of aspirated joint fluid and blood samples showed the growth of S. suis biotype II, which was identified by the Vitek2 GPI and API 20 Strep systems (bioMerieux, USA), and this organism was susceptible to penicillin G and vancomycin. The 16S rRNA sequences of the blood culture isolates showed 99% homology with those of S. suis subsp. suis, which are reported in GenBank. The patient's fever subsided, and blood and joint cultures were negative for bacterial growth after antibiotic therapy; however, the swelling and pain in her left knee joint persisted. She plans to undergo total knee replacement.
Aged, 80 and over ; Anti-Bacterial Agents/administration & dosage ; Arthritis, Infectious/complications/*diagnosis/microbiology ; Bacteremia/complications/*diagnosis/microbiology ; Female ; Humans ; Injections, Intravenous ; Microbial Sensitivity Tests ; Phenotype ; RNA, Ribosomal, 16S/chemistry/genetics ; Sequence Analysis, DNA ; Streptococcal Infections/complications/*diagnosis/microbiology ; Streptococcus suis/genetics/*isolation & purification

BACKGROUND: Human bocavirus (HBoV) is a newly identified viral pathogen, and its clinical epidemiology and significance in respiratory infections have not yet been completely elucidated. We investigated the prevalence of HBoV infection and the association between viral (HBoV) load and clinical features of the infection in patients of all age-groups. METHODS: Nasopharyngeal aspirates from patients with symptoms of respiratory infection were tested for presence of HBoV by using real-time polymerase chain reaction. HBoV-positive patients were categorized into low- and high-viral-load groups using 1.0x10(6) copies/mL as the threshold value of viral load. RESULTS: Detection rate of HBoV was 4.8% (N=93) in a total of 1,926 samples with peak incidence of infection being observed in patients aged 6-12 months. HBoV infection was more frequently observed in young children, especially, in children aged less than 5 yr, and the HBoV load decreased with increase in age. HBoV was codetected with other respiratory viruses in 17 (18.3%) of the 93 HBoV-positive patients and 15 patients (88.2%) belonged to the low-viral-load group. Patients infected with HBoV alone showed a higher viral load than those patients in whom HBoV was codetected with other respiratory viruses (median load, 3.78x10(5) copies/mL vs. 1.94x10(4) copies/mL, P=0.014). Higher pulse rate (P=0.007) and respiratory rate (P=0.021) were observed in patients with a high-viral-load. CONCLUSIONS: Our results suggest that HBoV may be the causative agent of respiratory infection in the high-viral-load group.
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; DNA, Viral/analysis ; Female ; Human bocavirus/*isolation & purification ; Humans ; Infant ; Male ; Middle Aged ; Nasopharynx/virology ; Parvoviridae Infections/diagnosis/*epidemiology/virology ; Polymerase Chain Reaction ; Prevalence ; Respiratory Tract Infections/diagnosis/*epidemiology/virology ; Viral Load

BACKGROUND: Human bocavirus (HBoV) is a newly identified viral pathogen, and its clinical epidemiology and significance in respiratory infections have not yet been completely elucidated. We investigated the prevalence of HBoV infection and the association between viral (HBoV) load and clinical features of the infection in patients of all age-groups. METHODS: Nasopharyngeal aspirates from patients with symptoms of respiratory infection were tested for presence of HBoV by using real-time polymerase chain reaction. HBoV-positive patients were categorized into low- and high-viral-load groups using 1.0x10(6) copies/mL as the threshold value of viral load. RESULTS: Detection rate of HBoV was 4.8% (N=93) in a total of 1,926 samples with peak incidence of infection being observed in patients aged 6-12 months. HBoV infection was more frequently observed in young children, especially, in children aged less than 5 yr, and the HBoV load decreased with increase in age. HBoV was codetected with other respiratory viruses in 17 (18.3%) of the 93 HBoV-positive patients and 15 patients (88.2%) belonged to the low-viral-load group. Patients infected with HBoV alone showed a higher viral load than those patients in whom HBoV was codetected with other respiratory viruses (median load, 3.78x10(5) copies/mL vs. 1.94x10(4) copies/mL, P=0.014). Higher pulse rate (P=0.007) and respiratory rate (P=0.021) were observed in patients with a high-viral-load. CONCLUSIONS: Our results suggest that HBoV may be the causative agent of respiratory infection in the high-viral-load group.
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; DNA, Viral/analysis ; Female ; Human bocavirus/*isolation & purification ; Humans ; Infant ; Male ; Middle Aged ; Nasopharynx/virology ; Parvoviridae Infections/diagnosis/*epidemiology/virology ; Polymerase Chain Reaction ; Prevalence ; Respiratory Tract Infections/diagnosis/*epidemiology/virology ; Viral Load

BACKGROUND: Early diagnosis is the cornerstone of management of acute myocardial infarction (AMI). We aimed to compare the diagnostic accuracy of high-sensitivity troponin T (hs-cTnT) with myeloperoxidase (MPO) and pregnancy-associated plasma protein A (PAPP-A) for early diagnosis of AMI in patients at the time of presentation to the emergency department (ED). METHODS: We enrolled 289 patients who presented at the ED of the National Institute of Heart Disease (NIHD) Rawalpindi, Pakistan, within 4 hr of onset of chest pain. Clinical assessment, electrocardiography (ECG), and angiography were carried out. Blood samples were collected at 0, 3, 6, and 12 hr. Analyses of plasma hs-cTnT, MPO, and PAPP-A were carried out using commercial kits. RESULTS: Out of 289 subjects who presented to the ED, we diagnosed 180 patients with coronary heart disease as having AMI (N=61) and 119 as without AMI (stable coronary artery disease, N=61; unstable angina, N=58). Compared to non-AMI patients, the patients with AMI had significantly higher levels (represented here as median [inter quartile range]) of plasma hs-cTnT (136 [39-370] vs. 12 [7-21] ng/L), MPO (906 [564-1,631] vs. 786 [351-1,299] pmol/L) and PAPP-A (5.78 [2.67-13.4] vs. 2.8 [1.8-4.9] mIU/L). Receiver operator characteristic curves (95% CI) for hs-cTnT (0.952 [0.909-0.978]) were significantly higher (P<0.001) than those for MPO (0.886 [0.830-0.929]) and PAPP-A (0.797 [0.730-0.854]), with AMI sensitivity and specificity percentages of 87% and 98% (hs-cTnT), 82% and 84% (MPO), and 65% and 87% (PAPP-A), respectively. CONCLUSIONS: The diagnostic performance of hs-cTnT was superior to that of MPO and PAPP-A for early triage and diagnosis of AMI among patients of coronary heart disease presenting with chest pain to the ED.
Acute Disease ; Adult ; Aged ; Aged, 80 and over ; Biological Markers/blood ; Coronary Angiography ; Early Diagnosis ; Electrocardiography ; Female ; Humans ; Male ; Middle Aged ; Myocardial Infarction/blood/*diagnosis/radiography ; Peroxidase/*blood ; Pregnancy-Associated Plasma Protein-A/*analysis ; ROC Curve ; Time Factors ; Triage ; Troponin T/*blood

BACKGROUND: Early diagnosis is the cornerstone of management of acute myocardial infarction (AMI). We aimed to compare the diagnostic accuracy of high-sensitivity troponin T (hs-cTnT) with myeloperoxidase (MPO) and pregnancy-associated plasma protein A (PAPP-A) for early diagnosis of AMI in patients at the time of presentation to the emergency department (ED). METHODS: We enrolled 289 patients who presented at the ED of the National Institute of Heart Disease (NIHD) Rawalpindi, Pakistan, within 4 hr of onset of chest pain. Clinical assessment, electrocardiography (ECG), and angiography were carried out. Blood samples were collected at 0, 3, 6, and 12 hr. Analyses of plasma hs-cTnT, MPO, and PAPP-A were carried out using commercial kits. RESULTS: Out of 289 subjects who presented to the ED, we diagnosed 180 patients with coronary heart disease as having AMI (N=61) and 119 as without AMI (stable coronary artery disease, N=61; unstable angina, N=58). Compared to non-AMI patients, the patients with AMI had significantly higher levels (represented here as median [inter quartile range]) of plasma hs-cTnT (136 [39-370] vs. 12 [7-21] ng/L), MPO (906 [564-1,631] vs. 786 [351-1,299] pmol/L) and PAPP-A (5.78 [2.67-13.4] vs. 2.8 [1.8-4.9] mIU/L). Receiver operator characteristic curves (95% CI) for hs-cTnT (0.952 [0.909-0.978]) were significantly higher (P<0.001) than those for MPO (0.886 [0.830-0.929]) and PAPP-A (0.797 [0.730-0.854]), with AMI sensitivity and specificity percentages of 87% and 98% (hs-cTnT), 82% and 84% (MPO), and 65% and 87% (PAPP-A), respectively. CONCLUSIONS: The diagnostic performance of hs-cTnT was superior to that of MPO and PAPP-A for early triage and diagnosis of AMI among patients of coronary heart disease presenting with chest pain to the ED.
Acute Disease ; Adult ; Aged ; Aged, 80 and over ; Biological Markers/blood ; Coronary Angiography ; Early Diagnosis ; Electrocardiography ; Female ; Humans ; Male ; Middle Aged ; Myocardial Infarction/blood/*diagnosis/radiography ; Peroxidase/*blood ; Pregnancy-Associated Plasma Protein-A/*analysis ; ROC Curve ; Time Factors ; Triage ; Troponin T/*blood

BACKGROUND: Measurement uncertainty characterizes the dispersion of the quantity values attributed to a measurand. Although this concept was introduced to medical laboratories some years ago, not all medical researchers are familiar with it. Therefore, the evaluation and expression of measurement uncertainty must be highlighted using a practical example. METHODS: In accordance with the procedure for evaluating and expressing uncertainty, provided by the Joint Committee for Guides in Metrology (JCGM), we used plasma glucose (Glu) as an example and defined it as the measurand. We then analyzed the main sources of uncertainty, evaluated each component of uncertainty, and calculated the combined uncertainty and expanded uncertainty with 2 budgets for single measurements and continuous monitoring, respectively. RESULTS: During the measurement of Glu, the main sources of uncertainty included imprecision, within-subject biological variance (BVw), calibrator uncertainty, and systematic bias. We evaluated the uncertainty of each component to be 1.26%, 1.91%, 5.70%, 0.42%, and -2.87% for within-run imprecision, between-day imprecision, BVw, calibrator uncertainty, and systematic bias, respectively. For a single specimen, the expanded uncertainty was 7.38% or 6.1+/-0.45 mmol/L (kappa=2); in continuous monitoring of Glu, the expanded uncertainty was 13.58% or 6.1+/-0.83 mmol/L (kappa=2). CONCLUSIONS: We have demonstrated the overall procedure for evaluating and reporting uncertainty with 2 different budgets. The uncertainty is not only related to the medical laboratory in which the measurement is undertaken, but is also associated with the calibrator uncertainty and the biological variation of the subject. Therefore, it is helpful in explaining the accuracy of test results.
Blood Chemical Analysis/methods/standards ; Clinical Chemistry Tests/*methods/standards ; Glucose/*analysis/standards ; Humans ; Models, Statistical ; Quality Control ; *Uncertainty

BACKGROUND: Measurement uncertainty characterizes the dispersion of the quantity values attributed to a measurand. Although this concept was introduced to medical laboratories some years ago, not all medical researchers are familiar with it. Therefore, the evaluation and expression of measurement uncertainty must be highlighted using a practical example. METHODS: In accordance with the procedure for evaluating and expressing uncertainty, provided by the Joint Committee for Guides in Metrology (JCGM), we used plasma glucose (Glu) as an example and defined it as the measurand. We then analyzed the main sources of uncertainty, evaluated each component of uncertainty, and calculated the combined uncertainty and expanded uncertainty with 2 budgets for single measurements and continuous monitoring, respectively. RESULTS: During the measurement of Glu, the main sources of uncertainty included imprecision, within-subject biological variance (BVw), calibrator uncertainty, and systematic bias. We evaluated the uncertainty of each component to be 1.26%, 1.91%, 5.70%, 0.42%, and -2.87% for within-run imprecision, between-day imprecision, BVw, calibrator uncertainty, and systematic bias, respectively. For a single specimen, the expanded uncertainty was 7.38% or 6.1+/-0.45 mmol/L (kappa=2); in continuous monitoring of Glu, the expanded uncertainty was 13.58% or 6.1+/-0.83 mmol/L (kappa=2). CONCLUSIONS: We have demonstrated the overall procedure for evaluating and reporting uncertainty with 2 different budgets. The uncertainty is not only related to the medical laboratory in which the measurement is undertaken, but is also associated with the calibrator uncertainty and the biological variation of the subject. Therefore, it is helpful in explaining the accuracy of test results.
Blood Chemical Analysis/methods/standards ; Clinical Chemistry Tests/*methods/standards ; Glucose/*analysis/standards ; Humans ; Models, Statistical ; Quality Control ; *Uncertainty