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"... the exception of one patient), albumin, and 1M. 1M dominated in comparison with albumin, so that the renal function of these patients was rated as restricted tubulo-interstitial reabsorption (one patient with glomerulopathy and restricted tubulo-interstitial reabsorption). The re-stricted tubular re ..."
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the exception of one patient), albumin, and 1M. 1M dominated in comparison with albumin, so that the renal function of these patients was rated as restricted tubulo-interstitial reabsorption (one patient with glomerulopathy and restricted tubulo-interstitial reabsorption). The re-stricted tubular reabsorption may lead to the appearance of cTnT and cTnI in urine. Restricted tubular reabsorption may occur as a result of tubulus ischemic damage or an overload of the tubular reabsorption capacity. A decrease in the glomerular filtration rate to70 mL/min will cause an overload of the tubular reabsorption capacity for 1M (10), and the 1M concentration in the plasma will increase with increasingly restricted filtration. Group C patients presented with massive, combined glomerular and tubular renal damage (albumin 638
Correlation of Fetal DNA and Human Chorionic Gonad- otropin Concentrations in Second-Trimester Maternal
"... The discovery of cell-free fetal DNA in maternal serum and plasma has opened a new avenue for noninvasive prenatal diagnosis and provided a useful marker of complicated pregnancy (1–7). In recent years, the analysis of fetal DNA in maternal serum or plasma has afforded successful prenatal diagnosis ..."
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The discovery of cell-free fetal DNA in maternal serum and plasma has opened a new avenue for noninvasive prenatal diagnosis and provided a useful marker of complicated pregnancy (1–7). In recent years, the analysis of fetal DNA in maternal serum or plasma has afforded successful prenatal diagnosis of fetal rhesus D status (2) and single-gene disorders (3), as well as fetal gender (4). In addition, an increased fetal DNA concentration in maternal serum or plasma has been demonstrated as a useful marker in preeclampsia (5, 6) and preterm labor (7). However, the origin of the fetal DNA and the biologic significance of its increase in complicated pregnancies remain unclear. Speculation as to the possible origin of fetal DNA has included the leakage of nucleated fetal cells into maternal circulation across the placenta or the direct
Original Article Rapid Prenatal Diagnosis of Trisomy 21 by Real-time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21
, 2004
"... anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative ..."
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anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF)-1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and
Original Article A Low-Cost Efficient Multiplex PCR for Prenatal Sex Determination in Bovine Fetus Using Free Fetal DNA in Maternal Plasma
"... Background: In order to establish a reliable non-invasive method for sex determination in a bovine fetus in a routine setting, the possibility of identifying specific sequence in the fetal X and Y-chromosomes has been evaluated in maternal plasma using conventional multiplex polymerase chain reactio ..."
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Background: In order to establish a reliable non-invasive method for sex determination in a bovine fetus in a routine setting, the possibility of identifying specific sequence in the fetal X and Y-chromosomes has been evaluated in maternal plasma using conventional multiplex polymerase chain reaction (PCR) analysis. The aim of this study was to pro-vide a rapid and reliable method for sexing bovine fetuses. Materials and Methods: In this experimental study, peripheral blood samples were taken from 38 pregnant heifers with 8 to 38 weeks of gestation. DNA template was extracted by phenol-chloroform method from 350 µl maternal plasma. Two primer pairs for bovine amelogenin gene (bAML) and BC1.2 were used to amplify fragments from X and Y chromosomes. A multiplex PCR reaction has been optimized for amplification of 467 bp and 341 bp fragments from X and Y bAML gene and a 190 bp fragment from BC1.2 related to Y chromosome. Results: The 467 bp fragment was observed in all 38 samples. Both 341 and 190 bp frag-ments were detected only in 24 plasma samples from male calves. The sensitivity and
at 5 and 6 weeks of pregnancy
"... Accuracy of fetal gender determination in maternal plasma ..."
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"... The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis ..."
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The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis
Predominant Hematopoietic Origin of Cell-free DNA in Plasma and Serum after Sex-mismatched
"... diagnostic applications of cell-free DNA in plasma and serum, the cellular origin of this DNA is poorly under-stood. We used a sex-mismatched bone marrow trans-plantation model to study the relative contribution of hematopoietic and nonhematopoietic cells to circulating DNA. Methods: We studied 22 s ..."
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diagnostic applications of cell-free DNA in plasma and serum, the cellular origin of this DNA is poorly under-stood. We used a sex-mismatched bone marrow trans-plantation model to study the relative contribution of hematopoietic and nonhematopoietic cells to circulating DNA. Methods: We studied 22 sex-mismatched bone marrow transplantation patients. Paired buffy coat and plasma samples were obtained from all 22 patients. Matching serum samples were also obtained from seven of them. Plasma DNA, serum DNA, and buffy coat were quanti-fied by real-time PCR of the SRY and -globin gene DNA. To investigate the effects of blood drawing and other preanalytical variables on plasma DNA concentra-tions, blood samples were also collected from 14 indi-
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"... of two DNA extraction methods from maternal plasma for using in non-invasive bovine fetus gender determination ..."
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of two DNA extraction methods from maternal plasma for using in non-invasive bovine fetus gender determination
Prenatal Diagnosis and Treatment of Steroid 21-Hydroxylase Deficiency
, 2008
"... Abstract. Steroid 21-hydroxylase deficiency (21-OHD) accounts for 90–95 % of congenital adrenal hyperplasia (CAH) cases. It is classified into three distinct clinical phenotypes: the salt-wasting (SW), simple virilizing (SV) and nonclassical forms (NC). As girls with the SW and SV forms of 21-OHD ar ..."
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Abstract. Steroid 21-hydroxylase deficiency (21-OHD) accounts for 90–95 % of congenital adrenal hyperplasia (CAH) cases. It is classified into three distinct clinical phenotypes: the salt-wasting (SW), simple virilizing (SV) and nonclassical forms (NC). As girls with the SW and SV forms of 21-OHD are exposed to high systemic levels of adrenal androgens during fetal life, they show genital ambiguity. To ameliorate the degree of genital virilization, prenatal dexamethasone treatment has been performed for more than two decades, although mainly in the USA and Europe. This treatment has proven to be effective in preventing or reducing genital virilization. Some data also show that prenatal diagnosis and treatment are safe for the mother and fetus. However, prenatal treatment is still controversial for the following reasons. First, the risk of having an affected female fetus is only one in eight when both parents are known carriers of the autosomal recessive trait. Therefore, seven of eight fetuses will receive dexamethasone unnecessarily, and this raises ethical questions. Furthermore, maternal side effects such as excessive weight gain and hypertension have been observed. Finally, the long-term safety and outcome for dexamethasone-exposed children have not been established. In Japan, prenatal diagnosis and treatment has rarely been reported because of these reasons. Therefore, we must be cautious, and this treatment should be carried out in special centers with the approval of their ethical committees, that are capable of performing chorionic villus sampling (CVS) and subsequently determining the karyotype and genotype of 21-OHD. Key words: prenatal diagnosis, prenatal treatment, dexamethasone, steroid 21-hydroxylase
