Five-Year Follow-up Study of Monoclonal Gammopathy of Undetermined Significance in a Korean Elderly Urban Cohort / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: We previously reported the prevalence of monoclonal gammopathy of undetermined significance (MGUS) to be 3.3% among an elderly Korean urban cohort recruited during 2005-2006. Here, we report a 5-year follow-up study of the previously identified MGUS cohort. MATERIALS AND METHODS: The 680 participants from the initial cohort were followed-up for a median of 5 years. Sera were collected between 2010 and 2011. Two-step screening was performed with standard serum electrophoresis followed by immunofixation and determination of the serum concentration of monoclonal-protein (M-protein). RESULTS: Of the 680 participants (21 with MGUS), 348 (51%) agreed to participate in the follow-up study and 10 were found to have MGUS. Among the 21 MGUS patients initially identified, nine were followed-up, six had persistent M-protein, and one patient had progressed to multiple myeloma (progression rate, 1.0%/yr). The M-protein disappeared in the remaining two individuals. Among the 339 participants without MGUS who were followed-up, four developed an M-protein. There was no significant difference in survival with respect to the presence of MGUS (p=0.66). CONCLUSION: The 5-year follow-up data show that the natural clinical course of MGUS in Korea is similar to that in Western countries. MGUS was not associated with an increased risk of death over the 5-year study period.

A Case of Good's Syndrome with Weak ABO Reverse Type / 대한수혈학회지

Good's syndrome (thymoma with immunodeficiency) is a rare cause of combined B-cell and T-cell immunodeficiency in adults. We present here a case of Good's syndrome involving a 52 year-old man with an ABO blood group abnormality. He had undergone surgery for thymoma with myasthenia gravis 27 years ago. He also had a history of pulmonary tuberculosis, herpes zoster and pure red cell aplasia. On admission, he was suspected of having pneumonia, and S. pneumoniae was isolated from blood culture. The immunoglobulin levels were markedly decreased. Lymphocyte subset analysis revealed the absence of CD19+ B cells. The result of ABO typing showed a normal strong reaction on the cell typing, but a relatively weak reaction on the serum typing. Therefore, we performed ABO genotyping to confirm his ABO type, which was revealed to be B/O1 . This case suggests that ABO typing should be performed when the diagnosis of Good's syndrome is made. Moreover, Good's syndrome (thymoma with hypogammaglobulinemia) should be considered and evaluated for in patients with a weak ABO reverse type.

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and galactosemia, and thus were diagnosed as having NICCD. Two of these three showed failure to thrive. The laboratory findings showed hypoproteinemia and hyperammonemia, and liver biopsies revealed micro-macrovesicular fatty liver and cholestasis. The three patients each harbored compound heterozygous 1,638-1,660 dup/ S225X mutation, compound heterozygous 851del4/S225X mutation, and heterozygous 1,638-1,660 dup mutation, respectively. With nutritional manipulation, liver functions were normalized and catch-up growth was achieved. NICCD should be considered in the differential diagnosis of cholestatic jaundice in Korean infants.

Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote / 대한소아소화기영양학회지

Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of a GALT gene mutation, whereas Duarte variant (D/D) has 50% of normal GALT activity and benign clinical course. The D2 allele of Duarte variant is linked to a promoter deletion 5' to the translation start site (-119 to -116 delGTCA) in addition to N314D. So, Duarte variant/classical galactosemia (D/G) compound heterozygotes have relatively mild clinical manifestation than classical galactosemia and can be differentiated from classical galactosemia or Duarte variant by mutational analysis. We report a case of D/G galactosemia compound heterozygote proven by the reduction of GALT enzyme activity in erythrocytes and mutation analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

Association between Low-Density Lipoprotein Subclasses and Lipoprotein Lipase Gene Polymorphisms in Coronary Artery Disease / 대한진단검사의학회지

BACKGROUND: A preponderance of small low-density lipoproteins (LDL subclass phenotype B) has been closely associated with a high-risk for coronary artery disease. Lipoprotein lipase (LPL) gene polymorphisms have been found to be associated with coronary artery disease and lipid levels; but their impact on LDL particle size is less clearly established. METHODS: The LDL subclass phenotype was analyzed in 114 normal controls and 131 patients with coronary artery disease using the LipoPrint LDL system (Quantimetrix Co., Redondo Beach, CA, USA). HindIII and PvuII polymorphisms of LPL genes were analyzed using PCR-RFLP. Ser447 -Ter polymorphisms of LPL gene were analyzed using the PCR-based method and using mismatched primer and restriction digestion. The analysis of their associations with the LDL subclass phenotype and the LDL score was investigated. RESULTS: No statistical differences in the allelic frequencies of HindIII, PvuII and Ser447 -Ter poly-morphisms were observed between the control and patient groups. The G allelic frequency of Ser447 -Ter polymorphism was significantly higher in phenotype B than in the phenotype AandI group (P=0.043). HindIII, PvuII and Ser447 -Ter sites were in strong linkage disequilibrium. CONCLUSIONS: HindIII, PvuII and Ser447 -Ter polymorphisms were not directly linked with coronary artery disease. However, the Ser447 -Ter polymorphism is associated with the small LDL particle, which results in a change in lipid metabolism and might have an effect on the development of coronary artery disease.

The Analysis of Clinical Information by Building the Clinical Data Warehouse / 대한의료정보학회지

This paper presents the design and application of a clinical data warehouse. The clinical data warehouse is built based on past 10 years of clinical data of Seoul National University Hospital. We extracted the clinical data from the database of hospital information system database and the results of Health 21 Project' , which is mainly composed of chief complaints, final diagnosis, discharge notes and survival data. By normalizing the terms of chief complaint, we are able to analyze the distribution patterns of symptoms within a diagnosis, and that of diagnosis related with a certain clinical symptom. Through our involvement with this project, we have learned that in order for a useful clinical data warehouse system, normalization and structured data entry is the key element of building clinical data warehouse.

Genetic Variation in Exon 3 of Human Apo B mRNA Editing Protein (apobec-1) Gene

We have investigated the genetic variation in the human apo B mRNA editing protein (apobec-1) gene. Exon 3 of the apobec-1 gene was amplified by polymerase chain reaction. After detection of an additional band by single strand conformational polymorphism (SSCP) analysis, sequencing of the SSCP shift sample revealed a single-base mutation. The mutation was a CGG transversion at codon 80 resulting in a lleRMet substitution. Thes substitution was confirmed by restriction fragment length polymorphism analysis since a pvull site is abolished by the substitution. Population and family studies confirmed that the inheritance of the genotypes for apobec-1 gene polyomrphism is comtrolled by two codominant alleles (P1 and P2). A significant difference in plasma triglyceride was detected among the different apobec-1 genotypes in the CAD patients (P<0.05) Our study could provide the basis for elucidating the interaction between gentic variation of the apobec-1 gene and disorders related to lipid metabolism.

Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots

PURPOSE: There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut-off values to minimize the false positive rates. METHODS: We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases of normal vaginal delivery or the fifth day in cases of Cesarean section. The levels of phenylalanine, galactose, 17-hydroxyprogesterone and branched-chain amino acids were measured using enzyme immunoassay. The results were compared with the original cut-off points set by the manufacturing company. RESULTS: The original cut-off points of four substances were 4.0mg/dL, 7.5mg/dL, 35ng/mL, and 8.0mg/dL, respectively, so that false-positive rates were 0.4, 1.6, 3.93, and 0.001%, respectively. When we set the cut-off point at 99.7 percentile using the data from healthy neonates, they should be 4.0mg/dL, 9.2mg/dL, 54.3ng/mL, and 8.0mg/dL, respectively. CONCLUSION: The false-positive and recall rates were higher in galactosemia and congenital adrenal hyperplasia when using the original cut-off points, suggesting that it would be reasonable to modify the cut-off point at 99.7 percentile after measuring those substances from enough of healthy neonates.

Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots

PURPOSE: There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut-off values to minimize the false positive rates. METHODS: We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases of normal vaginal delivery or the fifth day in cases of Cesarean section. The levels of phenylalanine, galactose, 17-hydroxyprogesterone and branched-chain amino acids were measured using enzyme immunoassay. The results were compared with the original cut-off points set by the manufacturing company. RESULTS: The original cut-off points of four substances were 4.0mg/dL, 7.5mg/dL, 35ng/mL, and 8.0mg/dL, respectively, so that false-positive rates were 0.4, 1.6, 3.93, and 0.001%, respectively. When we set the cut-off point at 99.7 percentile using the data from healthy neonates, they should be 4.0mg/dL, 9.2mg/dL, 54.3ng/mL, and 8.0mg/dL, respectively. CONCLUSION: The false-positive and recall rates were higher in galactosemia and congenital adrenal hyperplasia when using the original cut-off points, suggesting that it would be reasonable to modify the cut-off point at 99.7 percentile after measuring those substances from enough of healthy neonates.

Evaluation of ES-300 for the Detection of Anti-HCV Antibody / 대한임상병리학회지

BACKGROUND: A fully automated enzyme-immunoassay (EIA) analyzer, Enzymun System, ES-300 (Boehringer Mannheim, Germany) uses streptavidin technology and performs single test or panels of up to 12 tests per run. We evaluated the results of ES-300 for anti-HCV by comparing the results with microplate-EIA, radioimmunoassay (RIA), and confirmatory test. METHODS: Total 79 sera (51 positive, 24 negative, 4 indeterminate results confirmed by Lucky HCD Confirm) were analysed. ES-300 with Enzymun-Test(R) Anti-HCV (Boehringer Mannheim, Germany) and microplate-EIA (Green Cross Center Innotest HCV 3.0(R)) were used. Fifty one sera were examined additionally by 2nd-generation RIA method, NANBDINE 125C(General Biologicals Corp., R.O.C.). And all results were compared to the results of Lucky HCD Confirm. RESULTS: The overall concordance rate of ES-300 and Innotest(R) was 72/79 (91.1%). The results of Lucky HCD Confirm on seven discrepant samples were five negative and two indeterminate. The results of ES-300 and NANBDINE 125C showed concordance rate of 90.2%. The sensitivity and specificity of ES-300 with regard to Lucky HCD Confirm were 94.5%, and 87.5%, respectively, and that of Innotest(R) were 98.2% and 66.7%, respectively. Clear distinction of positive and negative results by signal/cut off ratio was available in both EIAs. The positive predictive values of ES-300 and Innotest(R) were 94.5%, and 87.1%, respectively. CONCLUSIONS: ES-300 showed relatively good results in sensitivity and positive predictive value with regard to confirmatory test. In EIA-positive persons, however, follow-up study would be necessary for reliable evaluation of HCV infection.

Lipoprotein and Lipid Abnormalities in Uremic Children with Maintenance Dialysis

Leiomyosarcoma of the soft tissue is a well-defined and characteristic entity histologically, but cytomorphological studes are lacking. A correlaive cytological study of 2 cases of leiomyosarcoma is presented. The smears from case 1 were rich in tumor cells and most cells were arranged in large sheets or clusters. The cells showed round to oval nuclei containing fine chromatin and small promiment nucleoli. The smears from case 2 were moderate in cellularity with loose clusters or isolated cells. The characteristic blunt-ended and cigar-shaped nuclei containing coarse chromatin and prominent nucleoli were identified in case 2. Nuclear atypia, prominent nucleoli and high cellularity permit diagnosis of malignancy, although the atypia is generally less pronounced than in the histology. The cytological diagnosis of leiomyosarcoma may be auxiliary in the diagnosis of recurrence or metastasis in the patients with alleged leiomyosarcoma.

Outbreak of Multi-resistant Acinetobecter baumannii in Intensive Care Unit of a Newly Opened Hospital / 병원감염관리

BACKGROUND: A sustained outbreak of multi-resistant Acinetobacter baumannii has been noticed in intensive care unit (ICU) of a newly opened hospital. METHODS: We retrospectively studied 72 patients in the ICU whose specimen grew A. baumannii from March to December 1995. To identify risk factors for infection, a case control study was conducted. Comparing clinical characteristics of 19 infected patients with those of 53 colonized cases. Environmental culture was performed in January 1996 to identify the source of infection. We analyzed antibiotic susceptibility of the isolates, and ribotyping was performed with 52 isolates. RESULTS: Nineteen out of 72 patients developed disease: primary sepsis 2, catheter related infection 2, catheter related infection and pneumonia 2, wound infection 5, wound infection and sepsis 2, pneumonia 6. On comparison of clinical characteristics between the infected and colonized groups, central venous catheterization was a significant risk factor for development of disease by A. baumannii (P<0.05) and duration of lCU stay was a factor independently associated with A. baumannii infection by logistic regression analysis. An epidemiologic investigation failed to identify the source of infection, but we found 2 of 3 sinks in lCU were heavily contaminated by the organism. Antibiogram of the isolates showed a multi-drug resistance including amikacin, which was found to increase gradually during the course of the outbreak. Ribotyping showed 3 major subtypes: 2A (18 isolates) 2B (16) 2B'(13) and other types (5). CONCLUSION: The findings from this study support the reports from many parts of the world that A. baumannii plays an increasingly important role as one of the major nosocomial pathogens.

Outbreak of Multi-resistant Acinetobecter baumannii in Intensive Care Unit of a Newly Opened Hospital / 병원감염관리

BACKGROUND: A sustained outbreak of multi-resistant Acinetobacter baumannii has been noticed in intensive care unit (ICU) of a newly opened hospital. METHODS: We retrospectively studied 72 patients in the ICU whose specimen grew A. baumannii from March to December 1995. To identify risk factors for infection, a case control study was conducted. Comparing clinical characteristics of 19 infected patients with those of 53 colonized cases. Environmental culture was performed in January 1996 to identify the source of infection. We analyzed antibiotic susceptibility of the isolates, and ribotyping was performed with 52 isolates. RESULTS: Nineteen out of 72 patients developed disease: primary sepsis 2, catheter related infection 2, catheter related infection and pneumonia 2, wound infection 5, wound infection and sepsis 2, pneumonia 6. On comparison of clinical characteristics between the infected and colonized groups, central venous catheterization was a significant risk factor for development of disease by A. baumannii (P<0.05) and duration of lCU stay was a factor independently associated with A. baumannii infection by logistic regression analysis. An epidemiologic investigation failed to identify the source of infection, but we found 2 of 3 sinks in lCU were heavily contaminated by the organism. Antibiogram of the isolates showed a multi-drug resistance including amikacin, which was found to increase gradually during the course of the outbreak. Ribotyping showed 3 major subtypes: 2A (18 isolates) 2B (16) 2B'(13) and other types (5). CONCLUSION: The findings from this study support the reports from many parts of the world that A. baumannii plays an increasingly important role as one of the major nosocomial pathogens.

Survey result on the prevalence of hyperlipidemia and other risk factors of coronary artery disease among Korean population / 대한임상병리학회지

No abstract available.