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1.
Mol Genet Genomic Med ; 8(7): e1256, 2020 07.
Article in English | MEDLINE | ID: mdl-32329244

ABSTRACT

BACKGROUND: To review the performance of noninvasive prenatal screening (NIPS) using targeted single-nucleotide polymorphisms (SNPs) approach in mixed-risk Thai women. METHODS: Retrospective analysis of data for detection of trisomy 21 (T21), 18 (T18), 13 (T13), monosomy X (XO), other sex chromosome aneuploidies (SCA), and triploidy/vanishing twins (VT) from a single commercial laboratory. RESULTS: Mean (±SD) gestational age and maternal weight were 13.2 (±2.1) weeks and 125.7 (±22.4) pounds, respectively (n = 8,572). From 462/8,572 (5.4%) no-calls; 1/462 (0.2%) was uninformative SNPs, and 1/462 chose amniocentesis. Redraw settled 323/460 (70%) samples with low fetal fraction (FF); and 8,434/8,572 (98.4%) were finally reportable, with 131 high risks (1.6%). The median (min-max) FF of reportable (n = 8,434) and unreportable samples (n = 137) samples were 10.5% (2.6-37.9) and 3.8% (1-14.1), respectively (p < .05). Fetal karyotypes were available in 106/131 (80.9%) and 52/138 (37.7%) high risk and repeated no-calls, respectively. The positive predictive values (PPVs) for T21 (n = 47), T18 (n = 15), T13 (n = 7), XO (n = 8), other SCA (n = 7), and triploidy/VT were 94%, 100%, 58.3%, 66.7%, 70%, and 57.1%, respectively. None of repeated no-calls had aneuploidies. CONCLUSION: SNP-based NIPS has high PPVs for T21 and T18. Although the proprietary SNPs library is not population-specific, uninformative SNPs are uncommon.


Subject(s)
Chromosome Disorders/diagnosis , Noninvasive Prenatal Testing/standards , Polymorphism, Single Nucleotide , Adult , Chromosome Disorders/genetics , Female , Humans , Noninvasive Prenatal Testing/methods , Pregnancy , Sensitivity and Specificity , Thailand
2.
Molecules ; 20(9): 17288-308, 2015 Sep 18.
Article in English | MEDLINE | ID: mdl-26393562

ABSTRACT

Amaranthus plants, or spinach, are used extensively as a vegetable and are known to possess medicinal properties. Neuroinflammation and oxidative stress play a major role in the pathogenesis of many neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Advanced glycation end-products (AGEs) cause cell toxicity in the human neuronal cell line, SH-SY5Y, through an increase in oxidative stress, as shown by reducing cell viability and increasing cell toxicity in a dose-dependent manner. We found that preincubation of SH-SY5Y cells with either petroleum ether, dichloromethane or methanol extracts of A. lividus and A. tricolor dose-dependently attenuated the neuron toxicity caused by AGEs treatment. Moreover, the results showed that A. lividus and A. tricolor extracts significantly downregulated the gene expression of the pro-inflammatory cytokines, TNF-α, IL-1 and IL-6 genes in AGEs-induced cells. We concluded that A. lividus and A. tricolor extracts not only have a neuroprotective effect against AGEs toxicity, but also have anti-inflammatory activity by reducing pro-inflammatory cytokine gene expression. This suggests that Amaranthus may be useful for treating chronic inflammation associated with neurodegenerative disorders.


Subject(s)
Amaranthus/chemistry , Cytokines/metabolism , Glycation End Products, Advanced/pharmacology , Neuroprotective Agents/chemistry , Plant Extracts/pharmacology , Apoptosis/drug effects , Cell Line , Cell Proliferation/drug effects , Cell Survival/drug effects , Gene Expression Regulation/drug effects , Humans , Neuroprotective Agents/pharmacology , Oxidative Stress/drug effects , Plant Extracts/chemistry
3.
Article in English | MEDLINE | ID: mdl-16438222

ABSTRACT

A study of antioxidant levels among Thai subjects with a hemoglobin E trait was undertaken. The objective of this study was to determine whether the antioxidant level would be disturbed in the HbE condition. All 185 volunteer subjects, 171 normal healthy subjects and 14 HbE carriers were recruited. For each case, an antioxidant determination was performed using the Trolox equivalent antioxidant capacity (TEAC) method. According to this study, the average antioxidant level in the healthy group was 3.439 +/- 0.220 mM Trolox equivalent, and in HbE trait group was 3.276 +/- 0.209 mM Trolox equivalent. There was a significant decrease of the antioxidant level in the HbE trait group (p = 0.008).


Subject(s)
Antioxidants/analysis , Hemoglobin E/analysis , Hemoglobinuria/blood , beta-Thalassemia/blood , Adult , Blood Protein Electrophoresis , Case-Control Studies , Hemoglobinuria/genetics , Heterozygote , Humans , Oxidative Stress , Thailand , beta-Thalassemia/genetics
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