Riboflavin (vitamin B2) is the solitary precursor for the biologically active cofactors known as the flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) molecules [1]. These cofactors are required in oxidation-reduction (redox) reactions and act as cofactors for the electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) [2]. The ETF and ETF-DH form electron transport pathways for at least 12 mitochondrial flavoprotein dehydrogenases involved in amino acid, fatty acid, and choline metabolism [3]. Variations of the ETF or ETF-DH cause multiple acyl-CoA dehydrogenation deficiencies (MADDs), and riboflavin metabolism or transport genetic defects can also cause MADD or varying degrees of progressive neurodegenerative diseases such as riboflavin transporter deficiency (RTD) [3]. There are three human riboflavin transporter (RFVT) homologs: RFVT 1 to 3, encoded by genes SLC52A1 to SLC52A3, respectively [4]. RFVTs are widely distributed in the body and SLC52A1 is highly expressed in the placenta and intestine [3]. SLC52A2 is rather ubiquitously expressed, mainly in the brain, and, although SLC52A3 is most highly expressed in the testes, which also expressed in the intestine and prostate [3]. There are three types of RTDs and these

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Background Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and has pitfalls such as the possibility of missing large number alleles. Triplet repeat primed PCR (TP-PCR) is a current alternative used to overcome these limitations. We evaluated the diagnostic usefulness of TP-PCR compared with the conventional diagnostic protocol consisting of FA and/or SB in terms of allele categorization, repeat number correlation, and zygosity concordance in female genetic carriers. Methods From November 2013 to March 2018, 458 patients (326 males, 132 females) were simultaneously examined using FA and/or SB and TP-PCR by detecting CGG repeat numbers in FMR1 gene and diagnosed as per American College of Medical Genetics guidelines. Results The TP-PCR results showed high concordance with the FA and/or SB results for all three aspects (allele categorization, repeat number correlation, and zygosity concordance in female genetic carriers). TP-PCR detected CGG expansions ≥200 in all full mutation (FM) allele cases in male patients, as well as both the normal allele (NL) and FM allele in female carriers. In premutation (PM) allele carriers, the TP-PCR results were consistent with the FA and/or SB results. In terms of zygosity concordance in female genetic carriers, 12 NL cases detected by TP-PCR showed a merged peak consisting of two close heterozygous peaks; however, this issue was resolved using a 10-fold dilution. Conclusions TP-PCR may serve as a reliable alternative method for FXS diagnosis.

Background: We sought to compare the performance of three commercially available automated urine sediment analyzers that represent the current urine sediment analysis technology. Methods: A total of 232 patient samples were analyzed using manual microscopy and three automated analyzers: IRIS Iq200 (Beckman Coulter, USA), UF-1000i (Sysmex, Japan), and Cobas u701 (Roche, Switzerland). We analyzed precision, linearity, carry-over, concordance rate, and agreement between the three analyzers and manual microscopy. Results: The repeatability and within-laboratory precision showed results similar to those of previous studies. All analyzers showed excellent linearity. The carry-over rates were within 1%. The correlation coefficient (r) between the three analyzers and manual microscopy was good. Regarding red blood cell (RBC), the UF-1000i showed a better concordance rate (90.52%) with manual microscopy than the other two analyzers and the agreement was substantial for UF-1000i (κ=0.63) and IRIS Iq200 (κ=0.61). Regarding white blood cell (WBC), Cobas u701 showed the best concordance rate (96.55%) and the agreement was moderate for IRIS Iq200 (κ=0.57) and Cobas u701 (κ=0.56), and fair for UF-1000i (κ=0.47). Regarding epithelial cell (EPI), IRIS Iq200 showed the highest concordance rate (99.2%) and the agreement was moderate for IRIS Iq200 (κ=0.59) and Cobas u701 (κ=0.54), and fair for UF-1000i (κ=0.40). Conclusions: IRIS Iq200 offered the best agreement with manual microscopy for WBC and EPI count, while UF-1000i showed a better agreement for RBC count. The agreement is insufficient for fully replacing the manual microscopy.

Tacrolimus is one of the effective immunosuppressive drugs used after an organ transplant procedure. However, due to its narrow therapeutic range, its usefulness in preventing transplant rejection and minimizing nephrotoxicity is dependent on the monitoring of whole blood trough levels of tacrolimus. A 49-year-old kidney transplant recipient presenting with cough and general weakness was admitted to the hospital. Due to the patient's deeply compromised clinical condition, an immunosuppressive therapy was discontinued. Tacrolimus concentrations in the patient's whole blood samples were measured, using an automated chemiluminescent microparticle immunoassay (CMIA) instrument. Interference was suspected because tacrolimus concentrations after the discontinuation of tacrolimus dose were 20.9 and 18.2 ng/mL at day 2 and 3, respectively. Tacrolimus concentrations were 11.1 and 12.6 ng/mL, respectively, when re-tested using an antibody-conjugated magnetic immunoassay (ACMIA). We evaluated the relationship between the CMIA and ACMIA results, and calculated the expected values from the regression equation. Residuals were -8.4 and -4 ng/mL, respectively. There have been several cases with false detection of elevated tacrolimus concentrations using ACMIA; however, such falsely detected elevations using CMIA have rarely been reported. When unexpectedly high concentrations of tacrolimus are detected by CMIA in transplant patients, an immediate re-test using another technique might be necessary to rule out falsely elevated results.

Objectives Blood culture is a one of the most important procedure for diagnosis and treatment of infectious disease, but distribution of pathogenic species and the antimicrobial susceptibility can be vary from pathogen, individual trait, regional or environmental features. In this study, we investigated the changes in frequency of occurrence and antimicrobial susceptibility pattern of blood isolates from 2005 to 2014. Methods Data of blood isolates from Kosin Gospel Hospital during 2005 to 2014 were analyzed retrospectively. Blood isolates were cultured for 5 days using BACTEC Plus Aerobic/F and BACTEC lytic/10 Anaerobic/F. Identification and antimicrobial susceptibility test was performed using VITEK 1 system, VITEK 2 XL, PHOENIX 100 and conventional method. Results 9,847 isolates were identified during 10 years. Among the isolates aerobic or falcutative anaerobic bacteria were isolated in 99.5% specimens, anaerobic were 0.1%, and fugi were 0.4%. Most commonly isolated bacteria were coagulase-negative Staphylococcus (CoNS) followed by Escherichia coli, Staphylococcus aureus and Klebsiella pneumoniae. Candida parapsilosis were most frequently isolated among fungi. The proportion of S. aureus, A. baumannii and E. faecium were increased, while Pseudomonas aeruginosa and Streptococcus pneumoniae decreased over decennium. Imipenem resistant K. pneumoniae were identified. Vancomycin resistant E. faecium and imipenem resistant A. baumannii were increased (7.1% in 2005 to 12.3% in 2014, 0% in 2005 to 55.6% in 2014, respectively). Conclusions Over the last 10 year, CoNS were the most frequently isolated pathogen. Imipenem resistant K. pneumoniae was emerged. Vancomycin resistant E. faecium and imipenem resistant A. baumannii increased during this period.