Assessment of environmental changes in the Orinoco River delta

Major anthropogenic driven changes in the hydrologic and sedimentation patterns of the Orinoco River have had an impact on environmental conditions in the delta. The abrupt water flow reduction from 3,600 to 200 m³ s^–1 in one of its major distributaries resulting from dam construction forced its transformation from a fresh-water body into a tidal channel with an increase in salinity level (as far as 100 km upstream) and with well-mixed water at the mouth and estuarine connection to the Paria Gulf. Three different sectors along this distributary can be identified (indicated by the Na/Cl ratio in the water). As a result, noticeable changes have occurred in the mangrove community which moved about 60 km further upstream. The changes have also promoted the formation of new islands of sediment progradation at the mouth of this distributary, where successional colonization and species replacement by different species of grasses and mangroves take place. Electronic Publication     

Active capping demonstration in the Anacostia river,Washington, D.C.

An active capping demonstration project in Washington, D.C., is testing the ability to place sequestering agents on contaminated sediments using conventional equipment and evaluating their subsequent effectiveness relative to conventional passive sand sediment caps. Selected active capping materials include: (1) AquaBlokTM, a clay material for permeability control; (2) apatite, a phosphate mineral for metals control; (3) coke, an organic sequestration agent; and (4) sand material for a control cap. All of the materials, except coke, were placed in 8,000‐ft test plots by a conventional clamshell method during March and April 2004. Coke was placed as a 1.25‐cm layer in a laminated mat due to concerns related to settling of the material. Postcap sampling and analysis were conducted during the first, sixth, and eighteenth months after placement. Although postcap sampling is expected to continue for at least an additional 24 months, this article summarizes the results of the demonstration project and postcap sampling efforts up to 18 months. Conventional clamshell placement was found to be effective for placing relatively thin (six‐inch) layers of active material. The viability of placing high‐value or difficult‐to‐place material in a controlled manner was successfully demonstrated with the laminated mat. Postcap monitoring indicates that all cap materials effectively isolated contaminants, but it is not yet possible to differentiate between conventional sand and active cap layer performance. Monitoring of the permeability control layer indicated effective reductions in groundwater seepage rates through the cap, but also showed the potential for gas accumulation and irregular release. All of the cap materials show deposition of new contaminated sediment onto the surface of the caps, illustrating the importance of source control in maintaining sediment quality. © 2006 Wiley Periodicals, Inc.     

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.