Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

Determinants of parental decisions to abort for chromosome abnormalities

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.     

MODELING THE IMPACT OF MULTICOMPONENT VOCs ON GROUND WATER USING THE STEFAN‐MAXWELL EQUATION1

ABSTRACT: Computer programs that model the fate and transport of organic contaminants through porous media typically use Fick's first law to calculate vapor phase diffusion. Fick's first law, however, is limited to the case of a single, dilute species diffusing into a stagnant, high concentration, bulk vapor phase. When dealing with more than one diffusing species and at higher concentrations, the multicomponent coupling effects on vapor phase diffusion and advection of the various constituents become significant. VLEACH, a one‐dimensional finite difference model developed for the U.S. Environmental Protection Agency (USEPA), is typical of the models using Fick's first law to model vapor‐phase diffusion. The VLEACH model was modified to accommodate up to 10 components and to calculate the binary diffusion coefficients for each of the components based on molecular weight, molecular volume, temperature and pressure, and to address the coupling effects on multiple component vapor phase diffusion and its impact on ground water. The resulting model was renamed MC‐CHEMSOIL. At low vapor phase concentrations, MC‐CHEMSOIL predicts identical ground water impacts (dissolved phase loading) to those from VLEACH 2.2a. At higher vapor phase concentrations, however, the relative difference between the models exceeded 20 percent.     

Mineral contents and proximate composition of Pistacia vera kernels

The mineral contents of Pistacia vera kernels were determined by inductively coupled plasma-atomic emission spectroscopy (ICP-AES). The minimum and maximum values of K, P, Ca, Mg, and S elements ranged from 6,333 to 8,064 mg/kg, 3,630 to 5,228 mg/kg, 1,614 to 3,226 mg/kg, 1,716 to 2,402 mg/kg, and 1,417 to 1,825 mg/kg, respectively. In addition, the mean values of Fe, Zn, Cu, Mn, B, Mo, Cr and Ni elements were determined as 42.48, 20.52, 12.81, 7.48, 11.31, 0.106, 0.511 and 1.67 mg/kg, respectively. Ash levels of kernels were found between 2.28 % (Urfa) and 2.79 % (Halebi). In addition, crude oil and protein contents were determined between 48.8 % (Halebi) to 55.3 % (Siirt) and 23.33 % (Uzun) to 27.16 % (Halebi), respectively.     

Influence of humic acid on the sorption of uranium(IV) to kaolin

Safety assessments for radioactive waste disposal require estimations of the migration of radionuclides in soils. The influence of humic acid (HA) on the sorption of uranium in its +4 oxidation state to kaolin has been examined from pH 4 to 8, with HA concentrations of 15–200 ppm. In the absence of HA, 20–40% of the U(IV) was in solution, with more sorption occurring at higher pH. The presence of HA solubilised up to 90% of the uranium with higher solubilities at higher HA concentrations and higher pH values. Uranium sorption was mapped against HA sorption, and it was found that there was a lower level of U(IV) sorption than can be accounted for by just measuring HA sorption. However, this effect got less marked as the pH rose. Sensitivity analysis indicated that the fraction of surface-bound HA is the controlling parameter for modelling in these systems.