A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia

Among hematologic diseases, structural abnormalities of autosomal chromosomes are well-known, but cases involving the sex chromosomes are uncommon. Duplications of the long arm of chromosome 1 have been reported in several hematologic diseases including myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia, and Burkitt lymphoma. However, dup(1q) as a der(Y)t(Y;1)(q12;q12) is very rare. Here, we report a case of essential thrombocythemia harboring der(Y)t(Y;1)(q12;q12) with literature review.

Correlation Between the CYP2C19 Phenotype Status and the Results of Three Different Platelet Function Tests in Cardiovascular Disease Patients Receiving Antiplatelet Therapy: An Emphasis on Newly Introduced Platelet Function Analyzer-200 P2Y Test

BACKGROUND: An association has been reported between CYP2C19 polymorphism and the altered antiplatelet activity of clopidogrel. We investigated this association using the newly introduced platelet function analyzer (PFA)-200 (INNOVANCE PFA-200 System; Siemens Healthcare, Germany) P2Y test. METHODS: Polymorphisms of CYP2C19*2, *3, *17 and the degree of inhibition of platelet function were determined in 83 patients. Three different platelet function tests were used to evaluate the degree of platelet inhibition and to check the association with genotype. RESULTS: The post-procedure PFA-200 values of extensive metabolizers (EM) patients (285.3+/-38.8) were higher than those of intermediate metabolizers (IM) and poor metabolizers (PM) patients (227.7+/-98.3 and 133.7+/-99.2, respectively; P=0.024). Light transmittance aggregometry (LTA) and the VerifyNow system showed that the post-procedure values for EM patients were lower than those of IM and PM patients (LTA: 24.4+/-15.7, 34.1+/-17.6, and 42.2+/-16.9, respectively, P<0.001; VerifyNow: 133.2+/-60.5, 171.5+/-42.6, and 218.7+/-59.3, respectively, P<0.001). The high residual platelet reactivity (HPR) rates were significantly different among the EM, IM, and PM groups using PFA-200 (PM:IM:EM=82.4:40.6:11.8, P<0.001). CONCLUSIONS: Approximately, 59.0% of Korean patients with cardiovascular disease receiving clopidogrel had CYP2C19 loss-of-function genotypes classified as IM or PM, and the frequency was similar to the data from Asian people. The PFA-200, LTA, and VerifyNow platelet function tests revealed evidence of a significant association between the efficacy of clopidogrel and CYP2C19 genotypes.

Repeatability of QuantiFERON-TB Gold In-Tube Assay Results Near Cut-Off Points

No abstract available.

Performance of Automated Chemiluminescence Assay for Antiphospholipid Antibody Testing

BACKGROUND: Detection of antiphospholipid antibodies (aPL) can be considered problematic due to assay variability and reagent sensitivity, high false-positive and false-negative rates, and lack of assay standardization. Therefore, utilizing an automated system can improve reproducibility and reduce interlaboratory variation. Here, we evaluated the analytical performance of the new automated ACL AcuStar chemiluminescence assay (Instrumentation Laboratory, USA). This was compared to the results of a panel analyzed with the QUANTA Lite ELISA (INOVA Diagnostics Inc., USA). METHODS: We evaluated the inter-assay precision, linearity, and carry-over between the two methods, ACL and ELISA. A reference range study for each of the anticardiolipin (aCL) and anti-beta2 glycoprotein-I (abeta2GPI) IgG and IgM antibodies were performed using 135 healthy patient samples, which served as controls. We then compared the accuracy among the AcuStar and ELISA systems via four aPL tests. For this comparison, 69 patient samples suspected of an autoimmune disorder were used as the experimental panel. RESULTS: The AcuStar analyzer showed excellent precision, linearity, and carry-over for all four assays. The calculated cutoff values were 20.3 U/mL for aCL IgG, 20.3 U/mL for aCL IgM, 26.3 U/mL for abeta2GPI IgG, and 11.9 U/mL for abeta2GPI IgM. The consensus between AcuStar and ELISA results were generally comparable. Total agreement varied between 82.6% and 95.7%, and kappa values showed moderate to good agreement. CONCLUSIONS: Our study demonstrates that the new AcuStar chemiluminescence assay showed better performance. This automated system leads to improved reproducibility and reduces interlaboratory variability.

Evaluation of Platelet count by the CELL-DYN Sapphire CD61 Immunoplatelet Method in Patients with Hematologic Diseases Receiving Chemotherapy

BACKGROUND: The automated hematologic analyzer has increased the precision and accuracy for platelet counting. However, spurious elevations of automated platelet counts occur occasionally in patients receiving chemotherapy or radiotherapy for solid organ tumors, leukemia, and other lymphomas. The CELL-DYN Sapphire analyzer (Abbott, USA) detects platelets with a CD61 monoclonal antibody and uses both impedance and optical technologies; thus, it is expected to present more accurate platelet counts. METHODS: We evaluated platelet counts obtained with the CELL-DYN Sapphire impedance, optical, and CD61 methods and compared them with the results obtained with the XE-2100 analyzer (Sysmex, Japan). We analyzed 111 samples from hospitalized patients with various hematologic diseases, who were receiving chemotherapy or radiotherapy. RESULTS: The results from the impedance, optical, and CD61 methods of CELL-DYN Sapphire and those from XE-2100 showed significant linearity, with correlation coefficients greater than 0.99. Three cases had significantly different platelet counts among the different methods used. Microscopic examination of these three cases showed very low platelet counts that corresponded with the low counts from the CD61 methods. It should be noted that because the automated blood counter assesses cell populations by their dimensions, many cellular fragments that were of the same size or smaller than platelets were thus counted as platelets. CONCLUSIONS: The CELL-DYN Sapphire analyzer has good precision, linearity and performance, comparable with the XE-2100 analyzer. As the CD61 methods of CELL-DYN Sapphire is specific for platelet, this method may reduce the interference from other blood components and count the exact platelet numbers.

Clinical Usefulness of Serum Cystatin C as a Marker of Renal Function

BACKGROUND: Accurate renal function measurements are important in the diagnosis and treatment of kidney diseases. In contrast to creatinine, the production of serum cystatin C has been extensively reported to be unaffected by body muscle mass, age, gender, and nutritional status. METHODS: Our study included 37 samples from diabetic chronic kidney disease (CKD) patients for whom serum creatinine tests had been requested and 40 samples from a healthy populations in Dong-A University Hospital between May 2010 and June 2010. The assay precision (i.e., the coefficient of variation) and the reference range of the serum cystatin C test were evaluated. We compared the estimated glomerular filtration rates (GFRs) based on cystatin C with those based on creatinine. Moreover, we investigated the influences of age, gender, weight, and muscle mass on serum creatinine and serum cystatin C. RESULTS: There was a positive correlation between GFR based on creatinine and that based on cystatin C (r=0.79, P<0.0001) among the diabetic CKD patients. Serum creatinine and cystatin C were significantly correlated with body weight and muscle mass, but the strengths of these correlations were greater for serum creatinine. The precision study revealed excellent results for both the high and low controls. The 95% reference interval of cystatin C in the healthy population was 0.371 to 1.236 mg/L. CONCLUSION: Based on these results, we conclude that, despite the strong correlation between serum creatinine and cystatin C, cystatin C is less affected by weight and muscle mass and might represent a better alternative for the assessment of renal function.

Difference of Rh Phenotype between Irregular Antibody Positive Patients and RhD Positive Population in Korea / 대한수혈학회지

BACKGROUND: The Rh system is the most important blood group after ABO in the transfusion field. Nearly half of irregular antibodies with specificity are related to Rh antigens in Korea. Formation of alloantibody for red blood cells is considered variable according to Rh phenotype of patients. We therefore studied the significance of Rh phenotype in Korean irregular antibody positive patients. METHODS: We performed retrospective reviews for the results of antibody identification tests performed from Jun. 2004 to Nov. 2013 in our university medical center. Rh phenotype, direct antiglobulin test, and antibody specificity were investigated. Rh phenotype was tested using RhD+ phenotype ID-card (DiaMed GmBH, Switzerland). RESULTS: A total of 504 patients were included. Of 504 patients, 495 (98.2%) were RhD positive. The proportion of Rh phenotype differed significantly between irregular antibody positive patients and known RhD positive Korean population in CDe phenotype (59.0% vs 39.4%, P<0.0001) and CcDEe phenotype (22.6% vs 38.4%, P<0.0001), respectively. The percentage of other Rh phenotype was not different in two groups. Formation of anti-E antibody in E negative patients was significantly higher than that of anti-C formation in C negative patients (P<0.0001). Sixteen patients showed antibodies with specificity for their own Rh system antigens. CONCLUSION: A significant disproportion of Rh phenotype was observed between irregular antibody positive patients and RhD positive Korean population. There would be a difference of immunogenicity among C/c and E/e antigens. E antigen matching might be considered first for patient required chronic transfusion if additional RBC matching would be implemented.

Diagnostic Utility of Multiprobe Fluorescence in situ Hybridization Assay for Detecting Cytogenetic Aberrations in Acute Leukemia

BACKGROUND: Specific cytogenetic aberrations detected by conventional karyotyping or FISH play a major role in the diagnosis, prognosis, and treatment of patients with acute leukemia. The FISH technique enhances the capacity of conventional karyotyping to detect subtle chromosomal aberrations. Multiprobe FISH assay (Cytocell, UK) can hybridize multiple probes to a single slide, thereby increasing the detection rate of cytogenetic aberrations. This study aimed to evaluate multiprobe FISH in detecting cytogenetic abnormalities in acute leukemia. METHODS: Thirty newly diagnosed acute leukemia patients who attended the hematology clinic at Dong-A University Hospital from October 2008 to October 2012 were enrolled in the study. The multiprobe FISH results were compared with those of G-banding. RESULTS: Multiprobe FISH detected the chromosomal aberrations identified by G-banding, as well as additional aberrations in 6 of 30 (20.0%) cases, which included ETV6/RUNX1 translocation, p16 deletion, TP53 deletion, and IGH break-apart. CONCLUSIONS: The multiprobe FISH assay was a more sensitive and reliable technique compared with G-banding. It was also more cost-effective and yielded faster results.

Outbreak of Pseudomonas Oryzihabitans Pseudobacteremia Related to Contaminated Equipment in an Emergency Room of a Tertiary Hospital in Korea

Pseudomonas oryzihabitans is frequently found in various sites within hospital settings, including sink drains and respiratory therapy equipment. Although it rarely causes human infections, P. oryzihabitans has recently been considered a potential nosocomial pathogen, especially in immunocompromised hosts. We report our experience of an outbreak of P. oryzihabitans pseudobacteremia, presumably due to faulty aseptic preparation of a saline gauze canister.

Shigella boydii Bacteremia in an Ederly Patient with No Underlying Disease / 대한임상미생물학회지

Shigella bacteremia is rare, occurring mainly in children. Shigella species often cause diarrhea or gastrointestinal inflammation in humans and are rarely associated with bacteremia. This report describes an unusual case of Shigella boydii bacteremia in an 84-year-old patient visiting our hospital after experiencing nausea, vomiting, and febrile sensation for 2 days. Peripheral blood cultures revealed S. boydii and 16S rDNA sequence analysis produced the same result. However, the organism was not isolated from the patient's stool. She was started on ciprofloxacin, to which this organism is sensitive, and was subsequently discharged with instructions to complete a 14-day course of ciprofloxacin. Shigellosis is usually a self-limiting enteric disease. However, in contrast to its isolation from both blood and stool, isolation of the organism from blood only is associated with a high mortality rate. As is frequently pointed out, blood cultures should be obtained from elderly or immunocompromised patients with acute febrile gastroenteritis to detect infection caused by enteric pathogens, including Shigella.

Transfusion Premedication: A Single Center Study / 대한수혈학회지

BACKGROUND: Acute transfusion reaction occurs during or within a few hours of transfusion with 0.5~3% of blood transfusion. Febrile non-hemolytic transfusion reactions (FNHTRs) and allergic transfusion reactions (ATRs) are the most common transfusion reactions. Premedication with acetaminophen and diphenhydramine has been used to prevent these reactions in 50~80% of transfusions. The purpose of this study was to describe the frequency of premedication and FNHTRs and ATRs according to premedication in Korea. METHODS: Between January 1 and 31, 2013, analysis of the first transfusion was performed retrospectively with chart review. A total of 549 cases were analyzed with regard to product of blood, care area, premedication, and FNHTRs and ATRs. RESULTS: Premedication was administered in 88.2% (484/549) of transfusions; 4 mg chlorphenamine, a well-known antihistamine, was used as premedication in all cases. Occurrence of FNHTRs was 7.7% without premedication and 3.7% with premedication. Occurrence of ATRs was 0% without premedication and 0.8% with premedication. The frequency of premedication was related to care area but not blood products. CONCLUSION: Premedication use was more frequent than previously reported. However, the sample size in this study is small; therefore, conduct of further prospective multicenter studies is needed.

A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon

Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The main clinical features are mental retardation, developmental delay, craniofacial dysmorphism, and various congenital defects. Here, we report a de novo interstitial deletion in chromosome 13 (q21.3q31) in a neonate with congenital megacolon (Hirschsprung disease) confirmed by biopsy. A short tandem repeat analysis (D13S317) was used to compare the loci on the chromosomes of the patient and the parents, the latter representing the normal karyotype, to determine how the features of the profile peaks relate to the deletion. The clinical data were also compared with those of similar cases in previously published reports.

A Case of Clostridium difficile Bacteremia in a Patient with Loop Ileostomy

Clostridium difficile, an anaerobic, spore-forming, gram-positive, rod-shaped bacterium, is the most common nosocomial pathogen causing pseudomembranous colitis. C. difficile is not intrinsically invasive and rarely infects extraintestinal sites. The bacterium, therefore, is not commonly detected in blood cultures. Here, we report a case of C. difficile bacteremia in a patient who had underwent loop ileostomy because of rectal obstruction following metastatic colon cancer originated from prostate cancer.

A Case of Clostridium difficile Bacteremia in a Patient with Loop Ileostomy

Clostridium difficile, an anaerobic, spore-forming, gram-positive, rod-shaped bacterium, is the most common nosocomial pathogen causing pseudomembranous colitis. C. difficile is not intrinsically invasive and rarely infects extraintestinal sites. The bacterium, therefore, is not commonly detected in blood cultures. Here, we report a case of C. difficile bacteremia in a patient who had underwent loop ileostomy because of rectal obstruction following metastatic colon cancer originated from prostate cancer.

Reference Range of HE4 in Healthy Women: Analytical Performance and Correlation with CA125 / 임상검사와정도관리

BACKGROUND: Laboratory diagnosis for ovarian cancer is mostly based on the quantitative determination of CA125. Over the past years, a number of additional markers for ovarian cancer have been proposed and studied. Human epididymis protein 4 (HE4) has accordingly emerged as a new biomarker for the detection of ovarian cancer. To evaluate the new automated HE4 assay, we studied analytical performance, and established reference ranges. METHODS: We evaluated precision performances and linearity of the HE4 assay. We also evaluated reference ranges for HE4 and CA125 according to age. Lastly, we investigated the correlation between HE4 and CA125. RESULTS: The precision study showed excellent results for both high and low control. The 95% upper reference ranges for HE4 and CA125 levels were 81.0 pmol/L (90% confidence interval [CI], 63.0-103.1) and 28.6 U/mL (90% CI, 25.4-36.4), respectively. There was no correlation between HE4 and CA125 (r = -0.002, P = 0.9793) in healthy women. Reference ranges of HE4 tended to be slightly higher for the older groups as compared to the younger groups. CA125 were considerably decreased in the oldest age group (ages 70 to 79). CONCLUSIONS: The new automated HE4 assay showed good analytical performance, age-related variable results and no correlation with CA125. Though further studies for clinical and diagnostic effectiveness of HE4 assay in screening and diagnosing ovarian cancer are needed for routine use of HE4, HE4 in combination with CA125 is likely to be more useful diagnostically than CA125 alone.

Urinary Neutrophil Gelatinase-Associated Lipocalin Levels in Comparison with Glomerular Filtration Rate for Evaluation of Renal Function in Patients with Diabetic Chronic Kidney Disease

BACKGROUND: Neutrophil gelatinase-associated lipocalin (NGAL) is a promising biomarker of acute kidney injury. There is a growing body of evidence suggesting that NGAL is also a marker of kidney disease and severity in chronic kidney disease (CKD). We studied the utility of urinary NGAL in more accurately predicting renal function in patients with diabetic CKD. METHODS: We studied possible relationships between urinary NGAL, estimated glomerular filtration rate (eGFR), and proteinuria in diabetic CKD patients and in healthy populations. RESULTS: Urinary NGAL levels were significantly higher in CKD patients than in healthy controls (96.0 [2.7 to 975.2] ng/mL vs. 18.8 [1.3 to 81.9] ng/mL, P=0.02), and the GFR was lower among CKD patients (49.3 [13.1 to 78.3] mL/min/1.73 m2 vs. 85.6 [72 to 106.7] mL/min/1.73 m2, P<0.0001). The urinary NGAL level showed a significant inverse correlation with GFR (r=-0.5634, P<0.0001). The correlation analyses between urinary protein level and urinary NGAL levels and GFR were as follows: urine protein and urinary NGAL (r=0.3009, P=0.0256), urine protein and GFR (r=-0.6245, P<0.0001), urine microalbumin and urinary NGAL (r=0.1794, P=0.2275), and urine microalbumin and GFR (r=-0.5190, P=0.0002). CONCLUSION: From these results, we concluded that urinary NGAL is a reliable marker of renal function in diabetic CKD patients. However, urinary NGAL did not provide more accurate information regarding renal function than GFR.

Development of a New Index for Mortality Prediction Due to Hemorrhagic Shock using Lactate Concentration and Perfusion in S-D Rats

PURPOSE: We proposed a new index for predicting death resulting from hemorrhagic shock, which was calculated by dividing measured lactate concentration by perfusion. METHODS: Using 24 Sprague-Dawley (S-D) rats, we induced uncontrolled hemorrhage and then measured blood lactate concentration and perfusion in addition to vital signs such as heart rate, blood pressure, respiration rate and temperature. Perfusion and lactate concentration were measured by laser Doppler flowmetry and a lactate concentration meter, respectively. We collected the data for 15 min, which consisted of 3 intervals after homeostasis, and thus obtained a new index. RESULTS: The proposed index revealed an earlier death prediction than lactate concentration alone with the same timing as perfusion. The new index showed generally better sensitivity, specificity and accuracy than lactate concentration and perfusion. Using a receiver operating characteristic curve method, the mortality prediction with the proposed index resulted in a sensitivity of 98.0%, specificity of 90.0%, and accuracy of 93.7%. The mortality prediction with the proposed index resulted in a sensitivity of 98.0%, specificity of 90.0% and accuracy of 93.7%. CONCLUSION: This index could provide physicians, in emergency situations, with early and accurate mortality predictions for cases of human hemorrhagic shock.

Development of a New Index for Mortality Prediction Due to Hemorrhagic Shock using Lactate Concentration and Perfusion in S-D Rats

PURPOSE: We proposed a new index for predicting death resulting from hemorrhagic shock, which was calculated by dividing measured lactate concentration by perfusion. METHODS: Using 24 Sprague-Dawley (S-D) rats, we induced uncontrolled hemorrhage and then measured blood lactate concentration and perfusion in addition to vital signs such as heart rate, blood pressure, respiration rate and temperature. Perfusion and lactate concentration were measured by laser Doppler flowmetry and a lactate concentration meter, respectively. We collected the data for 15 min, which consisted of 3 intervals after homeostasis, and thus obtained a new index. RESULTS: The proposed index revealed an earlier death prediction than lactate concentration alone with the same timing as perfusion. The new index showed generally better sensitivity, specificity and accuracy than lactate concentration and perfusion. Using a receiver operating characteristic curve method, the mortality prediction with the proposed index resulted in a sensitivity of 98.0%, specificity of 90.0%, and accuracy of 93.7%. The mortality prediction with the proposed index resulted in a sensitivity of 98.0%, specificity of 90.0% and accuracy of 93.7%. CONCLUSION: This index could provide physicians, in emergency situations, with early and accurate mortality predictions for cases of human hemorrhagic shock.

A Survival Prediction Model for Rats with Hemorrhagic Shock Using an Artificial Neural Network

PURPOSE: To achieve early diagnosis of hemorrhagic shock using a survival prediction model in rats. METHODS: We measured heart rate, mean arterial pressure, respiration rate and temperature in 45 Sprague-Dawley rats, and obtained an artificial neural network model for predicting survival rates. RESULTS: Area under the receiver operating characteristic (ROC) curves was 0.992. Applying the determined optimal boundary value of 0.47, the sensitivity and specificity of survival prediction were 98.4 and 96.6%, respectively. CONCLUSION: Because this artificial neural network predicts quite accurate survival rates for rats subjected to fixed-volume hemorrhagic shock, and does so with simple measurements of systolic blood pressure (SBP), mean arterial pressure (MAP), heart rate (HR), respiration rate (RR), and temperature (TEMP), it could provide early diagnosis and effective treatment for hemorrhagic shock if this artificial neural network is applicable to humans.