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OBJECTIVES To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. DESIGN Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived(More)
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392(More)
BACKGROUND Hypermethylation of the RASSF1A [Ras association (RalGDS/AF-6) domain family member 1A] gene is frequently observed in hepatocellular carcinoma (HCC). We evaluated the analysis of circulating hypermethylated RASSF1A for detecting HCC and assessing its prognosis. METHODS In module 1, we studied 63 pairs of HCC patients and age- and sex-matched(More)
Fully automated immunoassay formats are available for quantification of urinary albumin in large numbers of samples. However, most of these methods are impractical or expensive. The criteria for point-of-care testing include affordable cost, a disposable device, and minimum main-tenance/technical expertise required to perform tests (15). The sample should(More)
BACKGROUND The discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive prenatal diagnosis. Despite the rapid expansion in clinical applications, the molecular characteristics of plasma DNA in pregnant women remain unclear. METHODS We investigated the size distribution of plasma DNA in 34 nonpregnant women and 31 pregnant women,(More)
There is now considerable epidemiological and experimental evidence indicating that early-life environmental conditions, including nutrition, affect subsequent development in later life. These conditions induce highly integrated responses in endocrine-related homeostasis, resulting in persistent changes in the developmental trajectory producing an altered(More)
BACKGROUND Inhibitors of hydroxymethylglutaryl-coenzyme A reductase (statins) increase new bone formation in rodents and in human cells in vitro. Statin use is associated with increased bone mineral density of the femoral neck. We undertook a population-based case-control study at six health-maintenance organisations in the USA to investigate further the(More)
BACKGROUND The relationships between personality disorders and suicide were investigated among two aboriginal groups and the Han Chinese in East Taiwan. METHOD Biographical reconstructive interviews were conducted for consecutive suicides from each of the three ethnic groups (116 suicides in total), 113 of whom were matched with two controls for age,(More)
  • Y Nakanuma, M Sasaki, A Ishikawa, W Tsui, T-C Chen, S-F Huang +59 others
  • 2002
attempt to isolate genes responsible for spontaneous and experimental metastasis in the mouse model Physiology and pathophysiology of nitric oxide in the nervous system, with special mention of the islands of Calleja and the circunventricular organs l e c u l a r mechanisms in the pathogeneis of traumatic brain injury M. El-Salhy: The possible role of the(More)
Tumour-associated changes have been observed in the circulating nucleic acids of cancer patients and have been proposed to be useful for the detection and monitoring of cancers. In this review, different approaches for detecting tumour-associated nucleic acids in the circulation and their potential applications as tumour markers are discussed.