BACKGROUND: Red blood cell (RBC) sorbitol has been implicated in the pathogenesis of organic complications of diabetes mellitus. W8 investigated RBC sorbitol level as an indicator of glucose control or diabetic complications, and also evaluated whether RBC sorbitol/plasma glucose ratio is an indicator of diabetic complications. METHODS: RBC sorbitol levels were measured in 43 healthy persons and 133 diabetes mellitus (DM) patients by enzymatic method. We also tested linearity, inter- and intra- assay precisions. Plasma glucose and Hb Alc were measured by hexokinase method and HPLC, respectively. Hospital records were reviewed. RESULTS: The intra- and inter-assay coefficients of variation of RBC sorbitol test are 8.7% and 28.5%, respectively. Linearity is good. The RBC sorbitol level(3.60+/-1.00 ug/mL) and RBC sorbitol/plasma glucose ratio (2.37+/-0.98%) in diabetic patients are significantly higher than those in normal control (1.69+/-0.43 ug/mL, 1.85+/-0.49 per mill), respectively(p<0.0001). We can't observe correlation between RBC sorbitol and Hb Alc in BM patients, but observe that in non-treatment DM patients. We also observed correlation between Hb Alc and glucose and reverse correlation between RBC sorbitol ratio and Hb Alc. We can't find significant relation between diabetic complications and RBC sorbitol or RBC sorbitol/plasma glucose. CONCLUSIONS: We suggest that the reference range of normal RBC sorbitol level and RBC sorbitol/plasma glucose ratio by enzymatic method are 1.69+/-0.86 ug/mL and 1.85+/- 0.98%,. These Ire significantly different from DM patients and may be useful in diagnosis of DM.
Blood Glucose ; Chromatography, High Pressure Liquid ; Diabetes Complications ; Diabetes Mellitus* ; Diagnosis ; Erythrocytes ; Glucose ; Hexokinase ; Hospital Records ; Humans ; Reference Values ; Sorbitol*

BACKGROUND: Red blood cell (RBC) sorbitol has been implicated in the pathogenesis of organic complications of diabetes mellitus. W8 investigated RBC sorbitol level as an indicator of glucose control or diabetic complications, and also evaluated whether RBC sorbitol/plasma glucose ratio is an indicator of diabetic complications. METHODS: RBC sorbitol levels were measured in 43 healthy persons and 133 diabetes mellitus (DM) patients by enzymatic method. We also tested linearity, inter- and intra- assay precisions. Plasma glucose and Hb Alc were measured by hexokinase method and HPLC, respectively. Hospital records were reviewed. RESULTS: The intra- and inter-assay coefficients of variation of RBC sorbitol test are 8.7% and 28.5%, respectively. Linearity is good. The RBC sorbitol level(3.60+/-1.00 ug/mL) and RBC sorbitol/plasma glucose ratio (2.37+/-0.98%) in diabetic patients are significantly higher than those in normal control (1.69+/-0.43 ug/mL, 1.85+/-0.49 per mill), respectively(p<0.0001). We can't observe correlation between RBC sorbitol and Hb Alc in BM patients, but observe that in non-treatment DM patients. We also observed correlation between Hb Alc and glucose and reverse correlation between RBC sorbitol ratio and Hb Alc. We can't find significant relation between diabetic complications and RBC sorbitol or RBC sorbitol/plasma glucose. CONCLUSIONS: We suggest that the reference range of normal RBC sorbitol level and RBC sorbitol/plasma glucose ratio by enzymatic method are 1.69+/-0.86 ug/mL and 1.85+/- 0.98%,. These Ire significantly different from DM patients and may be useful in diagnosis of DM.
Blood Glucose ; Chromatography, High Pressure Liquid ; Diabetes Complications ; Diabetes Mellitus* ; Diagnosis ; Erythrocytes ; Glucose ; Hexokinase ; Hospital Records ; Humans ; Reference Values ; Sorbitol*

No abstract available.
Internet ; *Publishing ; Search Engine

The high level of low density lipoprotein (LDL) is a risk factor for cardiovascular disease. Apolipoprotein (apo) B is a major protein component of LDL and plays an important role in the maintenance of cholesterol homeostasis. In this study, six polymorphic sites of the apoB gene were anlaysed in 235 patients with coronary artery disease (CAD) and 216 normal control subjects. There were no significant differences in the allele frequencies of apoB polymorphisms between the control and patient groups. However, haplotype frequencies were significantly different between the CAD patients and control (p<0.05). In addition, the allelic distributions of both EcoRI and MspI polymorphisms in Koreans were similar to those in Chinese but significantly different from those in Caucasians. ApoB polymorphisms showed no association with plasma lipid levels. In conclusion, haplotype analysis of the apoB gene using multiple diallelic markers might be a useful marker for Korean CAD patients.
Adult ; Apolipoproteins B/*genetics ; Coronary Arteriosclerosis/*genetics ; Female ; Gene Frequency ; Genetic Markers ; Haplotypes ; Human ; Korea ; Male ; Middle Age ; Polymorphism (Genetics) ; Variation (Genetics)

Among ~20 RBC enzyme deficiencies causing hereditary hemolytic anemia (HRA), deficiencies involving three RBC enzymes such as glucose-6-phosphatase, pyruvate kinase and pyrimidine 5'-nucleodiase were known to be relatively common. The methods that have been used for RBC enzyme analysis are based on the kinetic spectrophotometry. This method, however, usually requires multiple step reactions and manual manipulations which are labor-intensive and time-consuming, and carry a greater risk of error due to their complexity. To solve this problem, we had successfully developed the multiplex enzyme analysis for galactose using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). We are now trying to adopt this method to other RBC enzymes associated with HRA. The devised method will allow simple, rapid, sensitive and reproducible quantification of RBC enzymes and should be helpful for the confirmatory diagnosis of HRA caused by RBC enzyme deficiencies.
Anemia, Hemolytic, Congenital ; Galactose ; Glucose-6-Phosphatase ; Mass Spectrometry ; Pyrimidines ; Pyruvate Kinase ; Spectrophotometry

BACKGROUND: The amino-terminal pro-brain natriuretic peptide (NT-proBNP) is a useful biomarker for the diagnosis of acute congestive heart failure. A point-of-care test (POCT) could rapidly detect the presence of NT-proBNP during emergencies. We evaluated the analytical performance of the new Samsung LABGEO PA CHF Test (Samsung Electronics, Korea). METHODS: Based on the guidelines of the Clinical and Laboratory Standards Institute (CLSI), we compared the precision, linearity, and method with those of the E170 (Roche Diagnostics, Switzerland). Matrix comparison between the NT-proBNP values in whole blood and plasma was also performed, and the reference interval was determined using residual samples from healthy adults selected based on the evaluation criteria. RESULTS: The Samsung LABGEO PA CHF Test provided results in approximately 18 min. The coefficient of variation (CV) of within-laboratory precision was below 6.8%. A desirable linearity was observed in the range of 0–10,000 pg/mL, with R²=0.99. The correlation with E170 was also excellent (N=108, r=0.96). NT-proBNP values in the whole blood were correlated with those in the plasma (N=36, r=0.99). The reference interval for the circulating NT-proBNP concentration was determined in 118 plasma samples from healthy subjects (26-75 yr of age). The 97.5th percentile was found to be 58.3 pg/mL. CONCLUSIONS: The Samsung LABGEO PA CHF Test demonstrated a good analytical performance. It could be a powerful tool as a POCT for clinical practice, particularly during emergencies.
Adult ; Diagnosis ; Emergencies ; Healthy Volunteers ; Heart Failure ; Humans ; Methods ; Plasma ; Point-of-Care Systems* ; Point-of-Care Testing

BACKGROUND: Hemoglobin A1c (HbA1c) is widely used for the monitoring of glycemic control in diabetes mellitus patients. Various methods are applied for the determination of HbA1c levels. Recently, a novel National Glycohemoglobin Standardization Program (NGSP)-certificated reagent (AutoLab HbA1c, IVD-LAB, Korea) was introduced for use in an automated chemistry analyzer. We evaluated the analytical performance of this immunoturbidimetry reagent and compared it with the ion-exchange high performance liquid chromatography (Variant II Turbo, Bio-Rad Laboratories, Inc., USA) and immunoassay (Cobas Integra 800, Roche Diagnostics, Germany) methods. METHODS: Toshiba 200FR NEO (Toshiba Medical Systems Co., Japan) with the AutoLab reagent was evaluated for precision, linearity, carryover and compared with Cobas Integra and Variant II Turbo. RESULTS: Coefficients of variation (CVs) of within-run imprecision for low and high level were 1.8% and 0.7%, respectively. CVs of within-laboratory imprecision for low and high level were 2.4% and 1.0%, respectively. The linearity was excellent with R2 = 0.99 in the range of 3.05-15.50%. It was well correlated with Variant II Turbo (R=0.9904) and Cobas Integra 800 (R=0.9992). The carryover rate was 0.4%. CONCLUSIONS: The Toshiba 200FR NEO with the AutoLab reagent showed excellent precision and linearity and minimal carryover rate. It was well correlated with the other widely used methodological instruments. It may be used for the diagnosis and the treatment monitoring of diabetes.
Chromatography, Liquid ; Diabetes Mellitus ; Hemoglobins ; Humans ; Immunoassay

Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that primarily affects the lungs and liver. While AAT deficiency is one of the most common genetic disorders in the Caucasian population, it is extremely rare in Asians. Here, we report the case of a 36-year-old Korean woman with AAT deficiency who visited the emergency department of our hospital for the treatment of progressive dyspnea that had begun 10 years ago. She had never smoked. Chest computed tomography revealed panlobular emphysema in both lungs, which suggested AAT deficiency. The serum AAT level was 33 mg/dL (reference interval: 90-200 mg/dL). Four exons of the SERPINA1 gene, which is responsible for AAT deficiency, and their flanking regions were analyzed by PCR-direct sequencing. The patient was found to have 1 missense mutation (c.230C>T, p.Ser77Phe; Siiyama) and 1 frameshift mutation (c.1158dupC, p.Glu387ArgfsX14; QOclayton). This is the first Korean case of AAT deficiency confirmed by genetic analysis and the second case of a compound heterozygote of Siiyama and QOclayton, the first case of which was reported from Japan.
Adult ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Exons ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Mutation, Missense ; Pedigree ; Pulmonary Emphysema/diagnosis/radiography ; Republic of Korea ; Sequence Analysis, DNA ; Tomography, X-Ray Computed ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin Deficiency/diagnosis/*genetics/radiography

No abstract available.
Adult ; Cerebroside-Sulfatase/*metabolism ; Child, Preschool ; *Chromatography, High Pressure Liquid ; Enzyme Assays/instrumentation/*methods ; Female ; Humans ; Kinetics ; Leukocytes/*enzymology ; Leukodystrophy, Metachromatic/diagnosis/enzymology ; Male ; Middle Aged ; Reference Standards ; Substrate Specificity ; Sulfoglycosphingolipids/analysis/metabolism/standards ; *Tandem Mass Spectrometry/standards