• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.20-25
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• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Journal of the Korea institute for structural maintenance and inspection
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• v.23 no.3
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• pp.83-91
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• 2019

The purpose of this study is to assess a fire-damaged concrete structure using a digital camera and image processing software. To simulate it, mortar and paste samples of W/C=0.5(general strength) and 0.3(high strength) were put into an electric furnace and simulated from $100^{\circ}C$ to $1000^{\circ}C$. Here, the paste was processed into a powder to measure CIELAB chromaticity, and the samples were taken with a digital camera. The RGB chromaticity was measured by color intensity analyzer software. As a result, the residual compressive strength of W/C=0.5 and 0.3 was 87.2 % and 86.7 % at the heating temperature of $400^{\circ}C$. However there was a sudden decrease in strength at the temperature above $500^{\circ}C$, while the residual compressive strength of W/C=0.5 and 0.3 was 55.2 % and 51.9 % of residual strength. At the temperature $700^{\circ}C$ or higher, W/C=0.5 and W/C=0.3 show 26.3% and 27.8% of residual strength, so that the durability of the structure could not be secured. The results of $L^*a^*b$ color analysis show that $b^*$ increases rapidly after $700^{\circ}C$. It is analyzed that the intensity of yellow becomes strong after $700^{\circ}C$. Further, the RGB analysis found that the histogram kurtosis and frequency of Red and Green increases after $700^{\circ}C$. It is analyzed that number of Red and Green pixels are increased. Therefore, it is deemed possible to estimate the degree of damage by checking the change in yellow($b^*$ or R+G) when analyzing the chromaticity of the fire-damaged concrete structures.

• Tuberculosis and Respiratory Diseases
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• v.56 no.3
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• pp.261-268
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• 2004

Background : The resurgence of tuberculosis and outbreaks of multidrug resistant (MDR) tuberculosis have increased the emphasis for the development of new susceptibility testing of the Mycobacterium tuberculosis for the effective treatment and control of the disease. Conventional drug susceptibility testings, such as those using egg-based or agar-based media have some limits, such as the time required and difficulties in determining critical inhibitory concentrations, but these are still being used in many diagnostic laboratories because of no better lternatives, considering cost and accuracy. To overcome these limits, a rapid and simple method for new susceptibility testing, using live and dead assays, was applied for a bacterial cell viability assay to distinguish dead from live bacterial cells based on two-color fluorescence. Materials and Methods Strains : Forty strains were used in this study, 20 susceptible to all antituberculosis drugs and the other 20 resistant to the four first line antituberculosis drugs isoniazid, rifampicin, streptomycin and ethambutol. Antibiotics : The four antibiotics were dissolved in 7H9 broth to make the following solutions: $0.1{\mu}g\;isoniazid(INH)/m{\ell}$, $0.4{\mu}g\;rifampicin(RMP)/m{\ell}$, $4.0{\mu}g\;streptomycin(SM)/m{\ell}$ and $4.0{\mu}g\;ethambutol(EMB)/m{\ell}$. Results : Live and dead Mycobacterium tuberculosis cells fluoresced green and red with the acridin (Syto 9) and propidium treatments, respectively. These results are very well accorded with conventional drug susceptibility testing by proportional method on Lowensen-Jensen media (L-J) containing 4 drugs (INH, RMP, EMB and SM), showing a 93.7 % accordance rate in susceptible strains and 95% in resistant strains. Conclusion : The results of the drug susceptibility testing using the live and dead bacterial cell assay showed high accordance rates compared with the conventional proportion method on L-J. This finding suggests that the live and dead bacterial cell assay can be used as an alternative to conventional drug susceptibility testing for M. tuberculosis strains.

• Journal of Food Hygiene and Safety
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• v.34 no.2
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• pp.115-123
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• 2019

An analytical method was developed for the determination of fenpropimorph, a morpholine fungicide, in hulled rice, potato, soybean, mandarin and green pepper using QuEChERS (Quick, Easy, Cheap, Effective, Rugged and Safe) sample preparation and LC-MS/MS (liquid chromatography-tandem mass spectrometry). The QuEChERS extraction was performed with acetonitrile followed by addition of anhydrous magnesium sulfate and sodium chloride. After centrifugation, d-SPE (dispersive solid phase extraction) cleanup was conducted using anhydrous magnesium sulfate, primary secondary amine sorbents and graphitized carbon black. The matrix-matched calibration curves were constructed using seven concentration levels, from 0.0025 to 0.25 mg/kg, and their correlation coefficient ($R^2$) of five agricultural products were higher than 0.9899. The limits of detection (LOD) and quantification (LOQ) were 0.001 and 0.0025 mg/kg, respectively, and the limits of quantification for the analytical method were 0.01 mg/kg. Average recoveries spiked at three levels (LOQ, $LOQ{\times}10$, $LOQ{\times}50$, n=5) and were in the range of 90.9~110.5% with associated relative standard deviation values less than 5.7%. As a result of the inter-laboratory validation, the average recoveries between the two laboratories were 88.6~101.4% and the coefficient of variation was also below 15%. All optimized results were satisfied the criteria ranges requested in the Codex guidelines and Food Safety Evaluation Department guidelines. This study could serve as a reference for safety management relative to fenpropimorph residues in imported and domestic agricultural products.