Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl-CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient from each family was diagnosed postnatally due to macrocephaly and neurological deterioration at 4 months and 10 months, respectively. The third child, sister of the first patient, was diagnosed prenatally at 11 weeks' gestation through chorionic villus sampling (CVS). Molecular analysis revealed that the fetus and child in Family 1 were homozygous for a common mutation, IVS10 -2A>C, which has not been reported in the Caucasian population. The patient in Family 2 was a compound heterozygote for IVS10 -2A>C and a novel mutation 749T>C (L238P). After genetic counseling, the couple decided to continue the second pregnancy. However, dilatation of quadrigeminal cistern (QC) and suspicious macrocephaly were noted at 30 weeks. Progressive dilatation of the QC associated with macrocephaly, fronto-temporal atrophy and wide space of perisylvian fissure were found in the follow-up scans. The affected girl was delivered at 37 weeks' gestation by cesarean section. Postnatal magnetic resonance imaging (MRI) studies confirmed the prenatal sonographic findings. With prenatal sonographic findings and mutational analysis presented in the present cases, the feasibility of prenatal diagnosis of GA I in high-risk pregnancy can not be overlooked. Copyright © 2002 John Wiley & Sons, Ltd.     

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

Twenty-five pregnancies at risk for spinal muscular atrophy I (SMA I) have been monitored by first-trimester prenatal diagnosis. Microsatellite markers were used in all cases to amplify polymorphic regions at the D5S125, D5S435, D5S39, D5S127, and D5S112 loci. All families, including 12 SMA I pedigrees with a deceased index child, were fully informative for DNA analysis. Three fetuses were predicted to be affected and 22 fetuses were predicted to be unaffected. Twenty-two newborns were unaffected by clinical examination at birth. These results support the accuracy of SMA I prenatal diagnosis based on linkage analysis.     

A comparative investigation on the biosorption of lead by filamentous fungal biomass

The removal of lead from aqueous solutions by adsorption on filamentous fungal biomass was studied. Batch biosorption experiments were performed to screen a series of selected fungal strains for effective lead removal at different metal and biomass concentrations. Biosorption of the Pb²⁺ ions was strongly affected by pH. The fungal biomass exhibited the highest lead adsorption capacity at pH 6. Isotherms for the biosorption of lead on fungal biomass were developed and the equilibrium data fitted well to the Langmuir isotherm model. At pH 6, the maximum lead biosorption capacity of Mucor rouxii estimated with the Langmuir model was 769 mg/g dry biomass, significantly higher than that of most microorganisms. Biomass of Mucor rouxii showed specific selectivity for Pb²⁺ over other metals ions such as Zn²⁺. Ni²⁺ and Cu²⁺. This fungal strain may be applied to develop potentially cost-effective biosorbent for removing lead from effluents. The technique of scanning electron microscopy coupled with X-ray dispersion analysis shows that Pb²⁺ has exchanged with K⁺ and Ca²⁺ on the cell wall of Mucor rouxii, thereby suggesting ion exchange as one of the dominant mechanisms of metal biosorption for this fungal strain.     

Coastal Management of Failaka Island, Kuwait

Failaka Island is one of the most important islands belonging to the State of Kuwait. With the Iraqi invasion of Kuwait on 2 August 1990, most of the activies on Failaka Island were destroyed. After the liberation of Kuwait, the Kuwaiti government decided to reconstruct the island for touristic and recreational purposes. Thus, a coastal development plan was needed. The presented study is an attempt to address the coastal zone management of the island. Based on the overall geomorphological features of the island, the coast was classified into four coastal zones. The wave and tidal conditions were identified around the island. The major items controlling the coastal development were specified. Accordingly, a detailed coastal zone management map for future development was developed. The overall goal was to provide decision-makers with guidelines for the future development of the island.     

Droplet digital PCR is a cost-effective method for analyzing long cell-free DNA in maternal plasma: Application in preeclampsia

Objective

Long cell-free DNA (cfDNA) can be found in the plasma of pregnant women and cancer patients. We investigated if droplet digital PCR (ddPCR) can analyze such molecules for diagnostic purposes using preeclampsia as a model.

Method

Plasma samples from ten preeclamptic and sixteen normal pregnancies were analyzed. Two ddPCR assays targeting a single-copy gene, VCP, and one ddPCR assay targeting LINE-1 repetitive regions were used to measure the percentages of long cfDNA >533, 1001, and 170 bp, respectively. The LINE-1 assay was developed as guided by in silico PCR analyses to better differentiate preeclamptic and normal pregnancies.

Results

Preeclamptic patients had a significantly lower median percentage of long cfDNA than healthy pregnant controls, as determined by the LINE-1 170 bp assay (28.9% vs. 35.1%, p < 0.0001) and the VCP 533 bp assay (6.6% vs. 8.7%, p = 0.014). The LINE-1 assay provided a better differentiation than the VCP 533 bp assay (area under ROC curves, 0.94 vs. 0.79).

Conclusion

ddPCR is a cost-effective approach for unlocking diagnostic information carried by long cfDNA in plasma and may have applications for the detection of preeclampsia. Further longitudinal studies with larger cohorts are required to assess the clinical utility of this test.