Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H-SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H-SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.     

Use and validation of novel snow samplers for hydrophobic, semi-volatile organic compounds (SVOCs)

Two novel gas-tight snow samplers (snow-can and snow-tube) are presented and the performance of the snow-can in a field trial was assessed. The methodology for the sampling, extraction and analysis of persistent organic pollutants (POPs) are detailed. These samplers allow the various components of a snow sample to be analysed separately; these included the meltwater (MW), particulate matter (GFF) and vapour in the headspace (HS). Snow samples collected on the Punta Indren glacier in the Italian Alps revealed the occurrence of polychlorinated biphenyls (PCBs), polycyclic aromatic hydrocarbons (PAHs) and organochlorine pesticides (OC). Replicate samples of the same snow type were undertaken as a test of sampling precision. Relative standard deviations (RSDs) for SigmaPCBs and SigmaPAHs were approximately 30% and approximately 35% respectively. The lowest precision was found for the particle-laden snow, notably for the heavier PCB homologues. For the chlorinated compounds, the pesticides lindane and endosulfan-I had the highest levels in snow, with mean concentrations of 402 and 103 pgl(-1) (snow meltwater) respectively. The vapour present in the headspace (HS) comprised a minor component of a collected sample for all compounds, but HS concentrations for three lighter PAHs gave good agreement with those calculated based on their dimensionless Henry's law constants. This suggests that volatilisation during melting of aged snow-can be reasonably predicted with knowledge of the temperature-dependent Henry's law constant.     

Partitioning of dioxins and dibenzofurans: Whole blood, blood plasma and adipose tissue

It has become relatively common to estimate human dioxin body burden and to document dioxin exposures by measuring dioxin and dibenzofuran congeners in adipose tissue, whole blood or blood plasma, and reporting these values on a lipid basis. It has not been determined whether these three types of specimens contain identical dioxin and dibenzofuran levels. This paper compares paired plasma and adipose tissue and paired whole blood and adipose tissue in analyses from two groups of patients. The first group consists of twenty U.S. veterans with paired plasma and adipose specimens. The second group consists of four German adults with whole blood compared to adipose tissue. Forty-eight analyses were performed. The results suggest that for some higher chlorinated compounds, such as OCDD, plasma lipid values may be higher than adipose lipid values, but whole blood lipid values for the higher as well as lower chlorinated PCDD/Fs may be relatively similar. On the other hand, the values for the lower chlorinated PCDD/Fs, such as TCDD, are similar in blood plasma, adipose tissue and whole blood. Total PCDD/F dioxin “toxic equivalents” are similar within each of the two series reported here, using the current “International Dioxin Toxic Equivalent” system.