• 대한유전성대사질환학회지
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• 제3권1호
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• 대한본초학회지
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• 제33권3호
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• pp.37-43
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• 2018

Objectives : Butylated hydroxytoluene (BHT) and butylated hydroxyanisole (BHA) were well known as anti-oxidant, but they were limited to use because of toxicity. So, many studies are being done to develope natural anti-oxidant. Total phenolic and flavonoid contents along with total antioxidant capacity of the ethanolic extract of Plantaginis Herba (PH) were evaluated to explore the reliable and potential sources of novel natural antioxidants. Methods : Total polyphenol contents and total flavonoid contents in PH ethanol extract were determined by colorimetric method. And DPPH(1.1-diphenyl-2-picrylhydrazyl), ABTS(2'-azino-bis (3-ethylbenzothiazoline-6-Surfonicacid)) free radical scavenging capacity and reducing power inhibition activities of PH ethanol extract were measured at 100, 500, 1000, $5000{\mu}g/m{\ell}$ concentrations by spectrometric assay. Results : The total polyphenol contents and total flavonoid contents of the extract were 161.99 mg/g, 144.05 mg/g, respectively. Also, DPPH, ABTS free radical scavenging capacity and reducing power of PH ethanol extract in treated concentrations (100, 500, 1000, $5000{\mu}g/m{\ell}$) increased dose dependently. In particular, DPPH free radical scavenging capacity of PH ethanol extract from $500{\mu}g/m{\ell}$ was significantly increased compared to positive control (BHA). ABTS free radical scavenging capacity of PH ethanol extract from $1000{\mu}g/m{\ell}$ was significantly higher than BHA. Also, reducing power showed that PH ethanol extract from $500{\mu}g/m{\ell}$ was significantly increased compared to BHA. Conclusions : These results suggest that PH ethanol extract has effects to scavenge free radicals, thus PH has potential and applicable benefits for development of materials and products to have anti-oxidation functions.