Objective: To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura (cTTP) and explore its standardized clinical diagnosis and treatment along with a review of literature. Methods: Clinical data of patients, such as age of onset, disease manifestation, personal history, family history, and misdiagnosed disease, were collected. Treatment outcomes, therapeutic effects of plasma infusion, and organ function evaluation were observed. The relationship among the clinical manifestations, treatment outcomes, and ADAMTS13 gene mutation of patients with cTTP was analyzed. Additionally, detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored. Results: The age of onset of cTTP was either in childhood or adulthood except in one case, which was at the age of 1. The primary manifestations were obvious thrombocytopenia, anemia, and different degrees of nervous system involvement. Most of the patients were initially suspected of having immune thrombocytopenia. Acute cTTP was induced by pregnancy and infection in two and one case, respectively. ADAMTS13 gene mutation was detected in all cases, and there was an inherent relationship between the mutation site, clinical manifestations, and degree of organ injury. Therapeutic or prophylactic plasma transfusion was effective for treating cTTP. Conclusions: The clinical manifestations of cTTP vary among individuals, resulting in frequent misdiagnosis that delays treatment. ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP. Prophylactic plasma transfusion is vital to prevent the onset of the disease.
Female ; Pregnancy ; Humans ; Adult ; Blood Component Transfusion ; Plasma ; Purpura, Thrombotic Thrombocytopenic/therapy* ; Mutation ; Purpura, Thrombocytopenic, Idiopathic ; ADAMTS13 Protein/therapeutic use*

Humans ; Goblet Cells ; Stomach Neoplasms ; Carcinoma

4-hydroxy-3-methoxycinnamic acid (ferulic acid, FA) is known to have numerous beneficial health effects, including anti-obesity and anti-hyperglycemic properties. However, the molecular networks that modulate the beneficial FA-induced metabolic effects have not been well elucidated. In this study, we explored the molecular mechanisms mediating the beneficial metabolic effects of FA. In mice, FA protected against high-fat diet-induced weight gain, reduced food intake and exhibited an overall improved metabolic phenotype. The food intake suppression by FA was accompanied by a specific reduction in hypothalamic orexigenic neuropeptides, including agouti-related protein and neuropeptide Y, with no significant changes in the anorexigenic peptides pro-opiomelanocortin and cocaine and amphetamine-regulated transcript. FA treatment also inhibited fat accumulation in the liver and white adipose tissue and suppressed the expression of gluconeogenic genes, including phosphoenolpyruvate carboxylase and glucose-6-phosphatase. Furthermore, we show that FA phosphorylated and inactivated the transcription factor FoxO1, which positively regulates the expression of gluconeogenic and orexigenic genes, providing evidence that FA might exert its beneficial metabolic effects through inhibition of FoxO1 function in the periphery and the hypothalamus.

BACKGROUND: The Lewis histo-blood group system consists of 2 major antigens-Lea and Leb-and a sialyl Lewis antigen-carbohydrate antigen (CA) 19-9. We investigated the distribution of Lewis genotypes and evaluated the relationship between the Lewis/Secretor genotypes and the serum level of CA 19-9 in a Korean population to identify whether the serum CA 19-9 levels are influenced by the Lewis/Secretor genotypes. METHODS: The study included 242 individuals who had no malignancies. Lewis genotyping was performed for the 59T>G, 508G>A and 1067T>A polymorphic sites. The Secretor genotype was determined through analysis of the 357C>T and 385A>T polymorphic sites and the fusion gene. Serum CA 19-9 level was analyzed using an electrochemiluminescence immunoassay. RESULTS: Individuals carrying the 3 common genotypes-Le/Le, Le/le(59,508), and Le/le(59,1067)-accounted for 95% of the study population. In the Korean population, the allelic frequencies of Le, Le(59), le(59,508), and le(59,1067) were 0.731, 0.010, 0.223, and 0.035, respectively. We found a significant difference in serum CA 19-9 concentrations among the 9 Lewis/Secretor genotype groups (P<0.001). The serum CA 19-9 levels in subjects with genotype groups 1 and 2 (Le/- and se/se) were higher than those with genotype groups 3-6 (Le/- and Se/-; 15.63 vs 6.64 kU/L, P<0.001). CONCLUSIONS: Le/Le, Le/le(59,508), and Le/le(59,1067) are frequent Lewis genotypes in Koreans. Because serum CA 19-9 levels are significantly influenced by the Lewis/Secretor genotypes, caution is suggested when interpreting the serum CA 19-9 levels.
Adult ; Aged ; Alleles ; Asian Continental Ancestry Group/*genetics ; CA-19-9 Antigen/*blood ; Chemiluminescent Measurements/methods ; Female ; Gene Frequency ; Genotype ; Humans ; Immunoassay/methods ; Lewis Blood-Group System/*genetics ; Male ; Middle Aged ; Phenotype ; Polymorphism, Genetic ; Republic of Korea

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

Three external quality assesment trials which composed of 16 control materials(12 chemical materials and four sets of microscopic photograph of urinary sediment) for interlaboratory quality control assesment in urinalysis were performed with 796, 823, and 841 participants, in each, in the year of 2009. The response rate were 97.1% (796/820), 95.5% (823/862) and 97.1% (841/866), in the first, the second and the third trials, in each. The test items include pH, glucose, protein, ketone, bilirubin, blood, urobilinogen, nitrite, leukocyte estrase, specific gravity and four microscopic photographs of urinary sediment. The survey results are summarized as follows: 1. The chemical quality control test in urinalysis revealed generally good concordance. 2. The percentage of using urinalysis analyzer was slightly decreased as 82.3% and the distribution of using reagent strip was similar to the previous year. 3. The percentage of response rate of microscopic photographs of urinary sediment was 83.5% (702/841) and the percentage of good performance of these tests ware 83.6% to 99.1%.
Bilirubin ; Equidae ; Glucose ; Hydrogen-Ion Concentration ; Korea ; Leukocytes ; Quality Control ; Reagent Strips ; Specific Gravity ; Urinalysis ; Urobilinogen

Three external quality assesment trials which composed of 16 control materials (12 chemical materials and four sets of microscopic photograph of urinary sediment) for interlaboratory quality control assesment in urinalysis were performed with 699, 718, and 732 participants, in each, in the year of 2008. The response rate were 95.4% (699/733), 96.6% (718/743) and 95.3% (732/767), in the first, the second and the third trials, in each. The test items include pH, glucose, protein, ketone, bilirubin, blood, urobilinogen, nitrite, leukocyte estrase, specific gravity and four microscopic photographs of urinary sediment. The survey results are summarized as follows: 1. The chemical quality control test in urinalysis revealed generally good concordance. 2. The percentage of using urinalysis analyzer was slightly decreased as 83.0% and the distribution of using reagent strip was similar to the previous year. 3. The percentage of response rate of microscopic photographs of urinary sediment was 81.3% (571/732) and the percentage of good performance of these tests ware 32.9% to 80.5%.
Bilirubin ; Equidae ; Glucose ; Hydrogen-Ion Concentration ; Korea ; Leukocytes ; Quality Control ; Reagent Strips ; Specific Gravity ; Urinalysis ; Urobilinogen

Three external quality assesment trials which composed of 16 control materials (12 chemical materials and four microscopic photographs of urinary sediment) for interlaboratory quality control assesment in urinalysis were performed with 638, 645, and 662 participants, in each, in the year of 2007. The response rate were 95.5% (638/668), 96.7% (645/667) and 97.1% (662/682), in the first, the second and the third trials, in each. The test items include pH, glucose, protein, ketone, bilirubin, blood, urobilinogen, nitrite, leukocyte esterase, specific gravity and four microscopic photographs of body fluid and urinary sediment. The survey results are summarized as follows: 1. The chemical quality control test in urinalysis revealed generally good concordance. 2. The percentage of using urinalysis analyzer was slightly increased as 87.5% and the distribution of using reagent strip was similar to the previous year. 3. The percentage of response rate of microscopic photographs of urinary sediment was 80.7% (536/662) and the percentage of good performance of these tests was 60.6% to 99.1%.
Bilirubin ; Body Fluids ; Carboxylic Ester Hydrolases ; Equidae ; Glucose ; Hydrogen-Ion Concentration ; Korea ; Leukocytes ; Quality Control ; Reagent Strips ; Specific Gravity ; Urinalysis ; Urobilinogen

Three external quality assesment trials which composed of 16 control materials (12 chemical materials and four microscopic photographs of urinary sediment) for interlaboratory quality control assesment in urinalysis were performed with 638, 645, and 662 participants, in each, in the year of 2007. The response rate were 95.5% (638/668), 96.7% (645/667) and 97.1% (662/682), in the first, the second and the third trials, in each. The test items include pH, glucose, protein, ketone, bilirubin, blood, urobilinogen, nitrite, leukocyte esterase, specific gravity and four microscopic photographs of body fluid and urinary sediment. The survey results are summarized as follows: 1. The chemical quality control test in urinalysis revealed generally good concordance. 2. The percentage of using urinalysis analyzer was slightly increased as 87.5% and the distribution of using reagent strip was similar to the previous year. 3. The percentage of response rate of microscopic photographs of urinary sediment was 80.7% (536/662) and the percentage of good performance of these tests was 60.6% to 99.1%.
Bilirubin ; Body Fluids ; Carboxylic Ester Hydrolases ; Equidae ; Glucose ; Hydrogen-Ion Concentration ; Korea ; Leukocytes ; Quality Control ; Reagent Strips ; Specific Gravity ; Urinalysis ; Urobilinogen

Three external quality assesment trials which composed of 16 control materials (12 chemical materials and four microscopic photographs of urinary sediment) for interlaboratory quality control assesment in urinalysis were performed with 451, 452, and 476 participants, in each, in the year of 2005. The response rate were 95.6% (451/472), 91.9% (452/492) and 95.6% (476/498), in the first , the second and the third trials, in each. The test items include pH, glucose, protein, ketone, bilirubin, blood, urobilinogen, nitrite, leukocyte estrase, specific gravity and four microscopic photographs of urinary sediment. The survey results are summarized as follows: 1. The chemical quality control test in urinalysis revealed generally good concordance. 2. The percentage of using urinalysis analyzer was slightly increased as 91.2% and the distribution of using reagent strip was similar to the previous year. 3. The percentage of response rate of microscopic photographs of urinary sediment was 76.5%(387/498) and the percentage of good performance of these tests ware 63.6% to 86.5%.
Bilirubin ; Equidae ; Glucose ; Hydrogen-Ion Concentration ; Korea* ; Leukocytes ; Quality Control ; Reagent Strips ; Specific Gravity ; Urinalysis* ; Urobilinogen