[Utility of in-house PCR for HLA-B27 typing: comparison of concordance rate between PCR kit and in-house PCR].

Background: Commercial kits of PCR method are widely used in HLA-B27 typing; however, their cost is relatively high. In this study, we evaluated the utility of an in-house PCR method by comparing it with that of a commercial kit.

Methods: HLA-B27 typing was done in 188 patients by using two PCR methods, Absolute HLAB27 PCR kit (Biosewoom, Korea) and an in-house PCR method.

Prognostic implications of the immunophenotype in biphenotypic acute leukemia.

The present study retrospectively analyzed clinicopathological and clinical data from 43 adult patients with biphenotypic acute leukemia (BAL) from 11 Korean institutes. The incidence of BAL was 2.1% among acute leukemias.

[Usefulness of Anti-HCV ELISA Test and HCV Reverse Transcriptase-PCR for the Diagnosis of Hepatits C Viral Infection.].

Background: The diagnosis of hepatitis C virus (HCV) infection is screened by anti-HCV enzymelinked immunosorbant assay (ELISA) and confirmed by recombinant immunoblotting assay (RIBA) or HCV RT-PCR. We attempted to evaluate the results between anti-HCV ELISA and a qualitative HCV RT-PCR.

Methods: Four hundred and twenty patients who were tested with anti-HCV ELISA and HCV RTPCR, simultaneously, from January 2002 to June 2005 were enrolled in this study.

[Comparison of In-house Polymerase Chain Reaction Assay with Conventional Techniques for the Detection of Mycobacterium tuberculosis.].

Background: The polymerase chain reaction (PCR) assay, introduced as a fast and sensitive diagnostic method, has been known to be useful in detecting Mycobacterium tuberculosis. Therefore the purpose of this study was to evaluate the usefulness of an in-house PCR assay in the detection of Mycobacterium tuberculosis by comparing PCR results with those of conventional diagnostic techniques.

Methods: We assessed the diagnostic yield of the in-house PCR assay retrospectively based on the patient's medical records using data from previously evaluated specimens submitted for PCR amplification IS6110 sequences by GeneAmp PCR system 9600 (Perkin Elmer, CT, USA).

Inflammatory marker expression and its implication in Korean ischemic stroke patients.

Background: Ischemic stroke is a complex condition influenced by many factors. Previous studies have demonstrated that inflammatory markers might play a role in such vascular diseases. Therefore the purpose of this study was to compare the expression of inflammatory markers in Korean ischemic stroke patients and to investigate their relationship to APOE polymorphism.

[Investigation of hemostatic changes in patients with sepsis].

Background: It is known that severe infection and inflammation lead to hemostatic abnormalities. Recently, much attention is focused on the mechanisms of infection or inflammation and on how it plays a central role in effecting the coagulation system. Disseminated intravascular coagulation in particular, is a common phenomenon in patients with sepsis, but the clinical implications of this condition are not clear.

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Background: Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases, respectively.

Objective: To investigate the contribution of these 2 genes in the occurrence of HSP in Korean patients.

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.

The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies. Mutations in the EYA1 gene on the chromosome band 8q13.3, the human homologue of the Drosophila eyes absent (eya) gene, have been identified to be the underlying genetic defects of the syndrome.