Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45

No abstract available.

Evaluation of the Wisecheck Glucose Monitoring System

BACKGROUND: Glucometers are widely used for self-monitoring and point-of-care testing in diabetes management. We evaluated the performance of the recently developed Wisecheck Glucose Monitoring System (Wisemeditech, Korea) compared to that of 2 other well-known glucometer systems. METHODS: The Wisecheck glucometer was evaluated for precision, linearity, and carryover rate. One-hundred fifty samples samples were tested, and the results obtained from the Wisecheck glucometer, ACCU-CHEK Performa (Roche Diagnostics, Germany) and SD GlucoLink (SD Diagnostics, Korea) were compared to those obtained using the laboratory reference method from the Toshiba 200FR (Toshiba, Japan), according to the Clinical and Laboratory Standards Institute (CLSI) guidelines. RESULTS: The coefficient of variation (CV) values for within-run imprecision at low, middle, and high levels were 2.06%, 1.02%, and 2.02%, respectively, and the CV values for total-run imprecision at low, middle, and high levels were 2.98%, 2.41%, and 1.88%, respectively. In the linearity test, the coefficient of determination (R2) was 0.9985 in glucose concentration ranging from 48.6 mg/dL to 428 mg/dL (P<0.0001). The results obtained using the Wisecheck glucometer were well correlated with those obtained using the Toshiba 200FR (R2=0.980, P<0.0001). The carryover rate was 0.12%. CONCLUSIONS: The Wisecheck glucometer showed good precision, linearity, and correlation with the reference method. It provided rapid and reliable measurements of blood glucose levels and seemed appropriate for use in diabetes management.

Predictive value of C-reactive protein in response to macrolides in children with macrolide-resistant Mycoplasma pneumoniae pneumonia / 소아과

PURPOSE: The prevalence of macrolide-resistant Mycoplasma pneumoniae (MRMP) has increased worldwide. The aim of this study was to estimate the proportion of MRMP in a tertiary hospital in Korea, and to find potential laboratory markers that could be used to predict the efficacy of macrolides in children with MRMP pneumonia. METHODS: A total of 95 patients with M. pneumoniae pneumonia were enrolled in this study. Detection of MRMP was based on the results of specific point mutations in domain V of the 23S rRNA gene. The medical records of these patients were reviewed retrospectively and the clinical course and laboratory data were compared. RESULTS: The proportion of patients with MRMP was 51.6% and all MRMP isolates had the A2063G point mutation. The MRMP group had longer hospital stay and febrile period after initiation of macrolides. The levels of serum C-reactive protein (CRP) and interleukin-18 in nasopharyngeal aspirate were significantly higher in patients who did not respond to macrolide treatment. CRP was the only significant factor in predicting the efficacy of macrolides in patients with MRMP pneumonia. The area under the curve for CRP was 0.69 in receiver operating characteristic curve analysis, indicating reasonable discriminative power, and the optimal cutoff value was 40.7 mg/L. CONCLUSION: The proportion of patients with MRMP was high, suggesting that the prevalence of MRMP is rising rapidly in Korea. Serum CRP could be a useful marker for predicting the efficacy of macrolides and helping clinicians make better clinical decisions in children with MRMP pneumonia.

Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family

We report the first Korean patient with familial hemiplegic migraine type 1, with clinical and multimodal imaging findings. A 43-yr-old man was admitted for right hemianopia and aphasia, followed by coma. MRI showed only cerebellar atrophy. CT angiography showed mild vasodilation of intracranial blood vessels and increased vascularity in the left hemisphere and perfusion-weighted imaging showed elevated cerebral blood flow. Gene analysis of the patient and his mother led to the identification of a heterozygous point mutation (1997C-->T, T666M) in exon 16 of the CACNA1A gene. Familial hemiplegic migraine should be considered in patients with episodic neurological dysfunction with cerebellar atrophy.

Development of Severe Hemolytic Anemia after Treatment with Anti-D Immunoglobulin in a Patient with Immune Thrombocytopenic Purpura / 대한수혈학회지

A 78-year-old female was admitted due to nasal bleeding and purpuric macules on both legs. The patient underwent renal biopsy, and a diagnosis of Henoch-Schonlein purpura nephritis was made. The patient's platelet count was 1.6x10(10)/L, and, based on results from bone marrow biopsy, the patient was diagnosed with immune thrombocytopenic purpura. Despite treatment with glucocorticoid and IV immunoglobulin, thrombocytopenia continued. The patient's blood group was Rhesus D positive and treatment with IV anti-D immunoglobulin followed. Thereafter, platelet count showed a rapid increase; however, occurrence of hemolytic anemia, hyperbilirubinemia, and hemoglobinuria consistent with intravascular hemolysis was observed.

Chromosomal Abnormalities in Myelodysplastic Syndrome with Near-tetraploidy: A Case Report

Massive hyperdiploidy and tetraploidy are rare cytogenetic abnormalities in myelocytic malignancies, especially in myelodysplastic syndrome (MDS). These abnormalities are known to be associated with leukemogenesis, leukemic transformation and poor prognosis. We report here the first case of MDS with near-tetraploid cytogenetic abnormality in Korea. A 80-yr-old male was diagnosed with refractory anemia with excess blasts-2 (RAEB-2). Bone marrow aspiration smear showed 16% of blasts, which were large sized myeloid blasts with irregular margins and cytoplasmic vacuolation. Cytogenetic analysis of bone marrow cells revealed numercal and structural cytogenetic abnormalities including near-tetraploidy in 8 of 20 metaphases: 45,XY,add(1)(p36.1),del(10)(p11.2),del(11)(q13),-12,-16,der(17)t(11;17) (q13;q21),add(20)(q13.1),+mar[8]/85~90,idemx2[cp8]/46,XY[4]. After chemotherapy with decitabine, he showed pancytopenia during follow-up period and died of sepsis 14 months after the diagnosis.

Immune Hemolytic Anemia after ABO-mismatched Liver Transplantation: A Case Report / 대한수혈학회지

Limitations due to lack of appropriate available donors for liver transplantation necessitates the use of ABO-mismatched donors. Transplantation of ABO-mismatched solid organs is sometimes associated with the development of immune hemolytic anemia, which is caused by production of antibodies by the donor B lymphocytes in a primary or secondary immune response against the recipient's red blood cell antigens. This condition is referred to as Passenger Lymphocyte Syndrome (PLS). PLS is more frequent in heart and lung transplants than in liver and kidney transplants with incidence of PLS in liver transplantation at 30~40%. When present, PLS typically manifests 1~3 weeks after transplantation, and subsides within 3 months after symptoms are first detected. In most patients, PLS is self-limiting and exhibits mild symptoms, but in some cases PLS can be life-threatening. We report a case of immune hemolytic anemia after an ABO-mismatched liver transplantation involving a blood group O donor and a blood group A recipient, and successful treatment of the resulting PLS symptoms by transfusion of gamma-irradiated group O Red Blood Cells (RBCs) accompanied by administration of 60 mg/day of methylprednisolone for 1 week.

ABO Genotyping of a Neonate with Mixed Field Agglutination / 대한수혈학회지

Mixed field agglutination is an important, but rare phenomenon of ABO blood grouping. Contrary to adults, neonatal red blood cells are immature and they present a weak ABO expression, and sometimes this result in a mixed field agglutination pattern. We report here on a case of a neonate who presented with mixed field agglutination on the ABO blood grouping during serologic testing and the neonate had a normal ABO genotype.

Evaluation of ABO Antibody Titration Using Tube and Column Agglutination Techniques

BACKGROUND: ABO antibody titration is useful for the evaluation of ABO-incompatible bone marrow or solid organ transplantations, yet the results quite vary between different test methods used. We compared the results of microcolumn agglutination and tube methods. METHODS: Anti-A and anti-B isoagglutionin titers were determined in 63 healthy individuals (23 O, 20 A, and 20 B blood groups) using 4 different methods: immediate spin tube (tube), microcolumn agglutination without anti-human globulin (AHG) (CAT), tube with AHG (tube-AHG) and microcolumn agglutination with AHG (CAT-AHG). RESULTS: The median (range) titers of anti-A and anti-B in group O individuals by tube, CAT, tube-AHG, and CAT-AHG methods were 64 (8-512), 64 (8-512), 128 (8-2,048), and 128 (16-2,048); 64 (16-128), 128 (16-256), 128 (16-512), and 256 (16-512), respectively. The median (range) titers of anti-A in group B and anti-B in group A individuals by the four methods were 64 (16-128), 128 (8-128), 128 (8-256), and 256 (8-256); 64 (8-128), 64 (8-128), 32 (8-128), and 64 (8-256), respectively. The isoagglutinin titer measured by CAT-AHGmethod was the highest. The titers measured by CAT and CAT-AHG methods were 0-1 titer higher than those by tube and tube-AHG methods, respectively. Whatever method was used, the isoagglutinin titers were higher in women than in men. CONCLUSIONS: CAT-AHG was the most sensitive method among the four methods tested. Since AHG titer values are critical for the clinical management and CAT has less manual procedures than tube method, CAT-AHG method could be used for the standardization of ABO antibody titration in different institutions.

A Case of Anti-Sda Proven by Urine Neutralization Test

Anti-Sda is of no clinical significance, because it rarely causes hemolytic transfusion reactions. Even when its presence is suspected during antibody screening test, further identification of the antibody is usually not performed. We experienced a case of anti-Sda in 73 yr-old male patient showing mixed field agglutination by microcolumn agglutination. Antibody specificity could not be identified by conventional antibody identification test, and it was proven to be anti-Sda by urine neutralization test. In spite of its little clinical significance, it may give incompatible crossmatching results reacting with Sda antigen, which occurs at a high frequency in general population. When incompatible crossmatch results arising from anti-Sda are suspected, the problem may be solved by using the urine-neutralized serum of in crossmatching test.

Human Bocavirus in Patients with Respiratory Tract Infection / 대한진단검사의학회지

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.

Human Bocavirus in Patients with Respiratory Tract Infection / 대한진단검사의학회지

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.

Evaluation of the LG Advansure(TM) Malaria P.f./P.v. real-time QPCR for the Diagnosis of Malaria

BACKGROUND: Malaria is a problematic disease in Korea, and microscopic examination of Giemsa-stained blood smear has been used as the gold standard for its diagnosis. However, this technique is time-consuming and has low sensitivity in samples with low numbers of malarial parasites (<20 parasites/microL). Here, we evaluated the performance characteristics of the LG Advansure(TM) Malaria P.f./P.v. real-time QPCR (LG life sciences, Korea). METHODS: Blood samples from 173 persons who visited Korea University Ansan Hospital were evaluated. QPCR was performed in 73 malaria patients and 100 healthy subjects by using the LG Advansure Malaria P.f./P.v. real-time QPCRR kit, and the results were compared with those of microscopy. The detection limit of this kit was determined by serial dilution of Plasmodium-infected blood with normal blood (blood not infected with Plasmodium). RESULTS: Among the 73 patients that were microscopically confirmed to have malaria (Plasmodium vivax infection, N=70, P. falciparum infection, N=3), 69 patients were diagnosed with P. vivax infection and 3 were diagnosed with P. falciparum infection by LG Advansure(TM) Malaria P.f./P.v. real-time QPCR. Both the tests indicated absence of infection in the 100 healthy subjects. The detection limit of LG Advansure(TM) Malaria P.f./P.v. real-time QPCR was 0.1 parasite/microL. CONCLUSIONS: LG Advansure(TM) Malaria P.f./P.v. real-time QPCR is a very sensitive and specific technique and can be used as a confirmatory test for malaria.

A Case of Hemophagocytic Lymphohistiocytosis with Clonal Karyotype Abnormalities

There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.

Evaluation of the Automated Instrument QWALYS-3 for Unexpected Antibody Screening / 대한수혈학회지

BACKGROUND: The use of automated techniques reduces the impact of human errors in blood banking and it improves the standardization and the quality of the achieved results. Erythrocyte Magnetized Technology (EMT) is now being widely used due to its simplicity and efficiency for detecting alloantibody. We evaluated the antibody screening test of the QWALYS-3 (DIAGAST, Loos Cedex, France). METHODS: The evaluation focused on antibody screening using the QWALYS-3 as compared to the standard manual tube method and the Ortho BioVue system in clinical samples (n=100) and frozen stored samples (n=64), which had RBC alloantibody. RESULTS: Using the manual tube method, the sensitivity of antibody screening was 100% by the QWALYS-3 and 42.8% by the Ortho BioVue in the clinical samples (n=7) and 2 results were discrepant by the QWALYS-3 for negative samples. For the known antibodies from the frozen stored samples (n=64) this correspondence rate amounted to 93.7% (n=60). CONCLUSION: The QWALYS-3 system displayed a good match rate with the Ortho BioVue system (92%). It also showed reliable results for the general accuracy when compared to the manual method (concordance rate: 98%). The QWALYS-3 system will facilitate the automation of routine antibody screening with high reliability, sensitivity and specificity compared to the standard manual methods.

Evaluation of Various Formulae for Glomerular Filtration Rate Estimation and Proposal of New Formulae for the Korean Population / 대한진단검사의학회지

BACKGROUND: Some researchers have questioned the necessity of adjusting glomerular filtration rate (GFR) by body surface area (BSA). We compared the relationship between estimated GFR (eGFR) and radionuclide GFR (rGFR) with or without BSA adjustment by comparing the results obtained using various formulae with those obtained using 2 new proposed formulae. METHODS: A retrospective study was performed using 204 Korean individuals whose GFR had been estimated by the (99m)Tc-diethylenetriaminepentaacetic acid method between March 2004 and July 2008. We used the modification of diet in renal disease (MDRD) II formula, Mayo clinic quadratic (MCQ) formula, Cockcroft-Gault (CG) formula, and lean body mass-adjusted CG formula. Two new formulae, skeletal muscle mass index (SMI)-adjusted CG formula and SMIx3.4/SCr, were proposed by us. We analyzed each parameter with Pearson's correlation coefficient and also obtained the bias values. RESULTS: BSA did not satisfy the fundamental prerequisites of an adjustment factor for rGFR. MDRD II and MCQ GFR estimates demonstrated higher Pearson's correlation coefficient with BSA-unadjusted rGFR than they did with BSA-adjusted rGFR. The other GFR formulae estimates showed better correlation with rGFR and more favorable bias (P<0.001) when both GFR estimates and rGFR values were BSA-unadjusted. SMI-adjusted CG and SMIx3.4/SCr GFR estimates demonstrated correlation with rGFR and bias values similar to those of the MDRD II and CG GFR estimates. CONCLUSIONS: We suggest that absolute, non-corrected GFR and GFR estimate be preferred in daily practice. The absolute, non-corrected GFR and GFR estimate are considered helpful for patients with eGFR< or =60 mL/min/1.73 m2. We also recommend the clinical use of the new formulae, SMI-adjusted CG and SMIx3.4/SCr (BSA-unadjusted).

Using Genotyping to Identify an A1B(weak) Blood Group / 대한수혈학회지

Since an exact ABO blood type match is essential for transfusion therapy, any ABO discrepancies should be resolved prior to the issuing of blood. The authors confirmed the ABO blood group of a 50-year-old male using genotyping. On a routine blood group test, the cell type was A+; however, anti-B was undetected in his serum. To determine the cause of this ABO discrepancy, an adsorption elution test and saliva test were performed. The presence of a weak B substance was suspected despite no evidence of the B antigen on red blood cells. Polymerase-chain-reaction restriction-fragment-length-polymorphism (PCR-RFLP) and sequencing analysis of exons 6 and 7 demonstrated that his blood type was A1Bweak (the A allele tested as the A105 subtype, while the B allele was most similar to the B302 subtype). Again, using genotyping, we subsequently confirmed the A1Bweak blood type in a leukemic patient who was in complete remission.

Characteristics of Intron 6 Nucleotide Sequences of cis-AB in Koreans / 대한수혈학회지

BACKGROUND: The cis-AB is a very rare phenotype in the ABO blood group system. It corresponds to a special ABO allele that encodes glycosyltransferase that is capable of synthesizing both A and B antigens. Until now, the exon 6 and 7 gene sequences of cis-AB alleles are well known. In this study, we report on the intron 6 sequence structure of the cis-AB allele. METHODS: Standard serologic tests for the ABO blood group phenotypes were performed in four cis-AB samples. Allele-separation by cloning and subsequent sequencing was carried out. RESULTS: The results showed that intron 6 of cis-AB is almost identical to the A101 allele except for three single nucleotide polymorphisms at nucleotide positions 163, 179 and 662, where the nucleotides of the A101 replace those of B101. CONCLUSION: The intron 6 sequences of cis-AB in Koreans have both A101 and B101 blood group sequences.

The Frequency of Unexpected Antibodies by Using Two Micro-column Agglutination Systems: DiaMed-ID and Ortho BioVue Systems / 대한수혈학회지

BACKGROUND: Unexpected antibody screening and identification tests are very important for safe blood transfusion. The micro-column agglutination test (MCAT) is widely used due to its simplicity and efficiency for detecting alloantibodies. We analyzed the frequency of unexpected antibodies at three university hospital blood banks, which use two different MCAT systems. METHODS: From February 2002 to December 2009, a total of 295,876 unexpected antibody screening tests were performed at three university hospital blood banks. Two hospital blood banks (Anam and Ansan Hospitals) used the DiaMed-ID system (DiaMed Ag, Switzerland) and the other (Guro Hospital) used the Ortho BioVue system (Ortho-Clinical Diagnostics, USA) for antibody screening and identification tests. RESULTS: The rates of detecting unexpected antibodies on screening test based on the 'tests performed' and the 'persons tested' were 1.16% per test and 0.96% per person in Korea University Guro Hospital, 0.65% and 0.41% in Korea University Anam Hospital and 0.76% and 0.57% in Korea University Ansan hospital, respectively. There were significant differences in the frequencies based on the two different systems (P<0.001). Among the warm antibodies, Rh antibodies were more frequently detected by the DiaMed-ID system, and Lewis antibodies were most frequently detected by the Ortho BioVue System. CONCLUSION: We should carefully interpretate the frequency of unexpected antibodies in the Korean population because the frequencies of unexpected antibodies are different according to different employed micro-column agglutination systems.

A Case of Haemophilus parainfluenzae Endocarditis / 대한임상미생물학회지

The HACEK group of bacteria (Haemophilus parainfluenzae, H. aphrophilus, H. paraphrophilus, Actinobacilus actinomycetemcomitans, Cardiobacterium hominis, Eikenella corodens, and Kingella kingae) are the normal flora of the upper respiratory tract and oropharynx. The organisms infect abnormal cardiac valves, causing subacute native endocarditis or prosthetic valve endocarditis more than one year after valve surgery. Haemophilus species are responsible for only 0.5~1% of all infective endocarditis cases. Embolization occurs in 60% and the mortality rate ranges from 16~45% of cases of infective endocarditis caused by H. parainfluenzae. We experienced a case of infective endocarditis due to H. parainfluenzae in a 37-year-old male admitted with high fever, chills, nausea & vomiting, chest discomfort, and blurred vision. The organism was isolated from a blood culture and was identified as H. parainfluenzae by factor V requirement, negativity at urea, positivity at ornithine decarboxylase, and acid production from glucose and maltose. The patient was treated with antibiotics and symptoms and signs were improved