Portal Biliopathy Misdiagnosed as Hilar Cholangiocarcinoma / 대한소화기학회지

Portal biliopathy refers to the changes in the bile duct caused by portal vein thrombosis or obstruction. It is assumed to be caused by cavernous transformation due to the development of the venous system surrounding the bile duct, but the exact pathology is still unknown. Biliary morphologic abnormalities of portal biliopathy are discovered incidentally on radiographic images, but it is sometimes difficult to differentiate them from cholangiocarcinoma. Given the poor prognosis of cholangiocarcinoma, a surgical approach can be considered when the diagnosis is uncertain. Herein, we report a case of portal biliopathy with bile ductal wall thickening, which was diagnosed after surgical resection was performed due to the presumed diagnosis of cholangiocarcinoma.

Investigation of the Association between Normal-tension Glaucoma and Single Nucleotide Polymorphisms in Natriuretic Peptide Gene

PURPOSE: The expression of natriuretic peptides in the neural bundles of the anterior portion of the optic nerves and their functions in regulating vessel tone and blood flow may suggest a possible role in the pathogenesis of glaucoma. The purpose of this study was to investigate the association between normal-tension glaucoma and the genetic variations of atrial natriuretic peptide (Nppa) and natriuretic peptide receptor A (Npr1) gene. METHODS: Sixty-seven Korean normal-tension glaucoma (NTG) patients and 100 healthy subjects (as normal controls) were enrolled. DNA from peripheral blood leukocytes was extracted, and the genotypes of five polymorphisms (c.94G>A, c.454T>C, IVS1+16C>T, IVS2+701G>A, and c.-764C>G) in the Nppa gene and one polymorphism (c.1023G>C) in the Npr1 gene were determined using the restriction fragment length polymorphism and the SNaPshot methods. The genotype and allele frequencies of these polymorphisms in patients with NTG and normal controls were compared using the Fisher's exact test and the chi-square test. RESULTS: In both groups, the genotype distributions were in accordance with the Hardy-Weinberg equilibrium. There was no significant difference in the frequency of the Nppa and Npr1 alleles or genotypes in the normal-tension glaucoma group as compared to the control group. CONCLUSIONS: Nppa and Npr1 gene polymorphisms are not associated with normal-tension glaucoma, suggesting that this gene does not have an important role in the pathogenesis of optic neuropathy in this disease.

Molecular Characteristics of B Subgroups in Koreans / 대한진단검사의학회지

BACKGROUND: An accurate ABO blood type is essential for transfusion therapy. Genetic structures of ABO blood group and subgroup have been investigated and so far about 100 ABO alleles have been reported worldwide. This study was performed to investigate the molecular characteristics of B subgroups in the Korean population. METHODS: A total of 19 samples of B subgroups were collected from patients (n=11) and from blood donors (n=8) of Korean Red Cross blood centers; these samples had been typed serologically for the ABO blood group. Allele-specific polymerase chain reaction (PCR), direct sequencing of exon 6 and 7, and allele separation were performed for ABO gene analysis. RESULTS: The ABO PCR-RFLP genotyping results of 18 samples among the provisional 19 B subgroups were identical regardless of their phenotypes. Two new B alleles showing 255C>T base change and 547G>A base change were observed in B3 and A1B3 subgroups. CONCLUSIONS: Serologically unidentified B subgroups were unequivocally identified through molecular analyses of the ABO gene. And new ABO alleles observed only in the Korean B subgroups were recognized.

Molecular Characteristics of A Subgroups in Koreans / 대한수혈학회지

BACKGROUND: An exact ABO blood type is essential for transfusion therapy. Genetic structures of ABO blood group and subgroup have been investigated and about 100 ABO alleles have been reported worldwide. This study was performed to investigate the molecular characteristics of A subgroups in the Korean population. METHODS: Nine A and five AB subgroups were collected from patients and from blood donors of Korean Red Cross blood centers after serological ABO blood group typing. On these samples, allele-specific polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), direct sequencing of exon 6 and 7, and allele separation were performed for ABO gene analysis. RESULTS: The ABO PCR-RFLP genotyping results of 13 samples among the provisional 14 A subgroups were identical with their phenotypes. ABO*A205 allele was observed in an Aint subgroup. Two new A alleles that showed 784G>A base change and 990C>T of intron 6. And a polymorphism of 532C>T in A(pro) intron 5 were also discovered. Conclusion: Through the molecular analysis of this study, serologically unidentified A subgroups were obviously identified. And the new alleles only observed in the Korean A subgroups were recognized.