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.     

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-a-D -glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.     

Swine wastewater treatment in a two stage sequencing batch reactor using real-time control

A laboratory scale two-stage sequencing batch reactor (TSSBR) was used to study the effectiveness of pH as a real-time control parameter in swine wastewater treatment. A Ringlace media was inserted into the A/O (Anoxic/Oxic) reactor for bacteria immobilization. The TSSBR was subjected to three levels of organic loading. The pH and ORP (Oxidation Reduction Potential) patterns obtained were consistent with distinct features, enabling the real-time control strategy to effectively set a flexible aeration time pending on influent concentration, hence resulting in flexible cycle time and HRT (Hydraulic Retention Time) for the system. The real-time process ensured a removal efficiency of over 99% and 95%, respectively, for ammonia and TOC (Total Organic Carbon). For NO3(-)-N and PO4(-3), the run with influent TOC = 4,000 mg/L yielded the most efficient removal of 61% and 95%, respectively. Test results suggest that pH can be a viable tool for on-line real-time control of a biological treatment process.     

Adsorption/desorption properties of copper ions on the surface of iron-coated sand using BET and EDAX analyses

This study was conducted to develop a heating process for coating hydrated iron oxide on the sand surface to utilise the adsorbent properties of the coating and the filtration properties of the sand. BET and scanning electron microscope (SEM) analyses were used to investigate the surface properties of the coated layer. An energy dispersive X-ray (EDAX) technique of analysis was used for characterising metal adsorption sites on the iron-coated sand surface. The results indicated that the iron-coated sand had more micropores and higher specific surface area because of the attachment of iron oxide. Copper ions could penetrate into the micropores and mesopores of iron oxide on sand surface, and the regeneration of the iron-coated sand could be achieved by soaking with pH = 3.0 acid solution. Besides, the results of EDAX analysis showed that copper ions were chemisorbed on the surface of iron-coated sand. Results of the study developed an innovative technology for coating iron oxide on sand surface for the treatment of heavy metal in water.     

The effects of magnesium and ammonium additions on phosphate recovery from greenhouse wastewater

Phosphorus recovery from greenhouse wastewater, using precipitation-crystallization, was conducted under three levels of calcium concentration, 304 mg/L (7.6 mmol/L), 384 mg/L (9.6 mmol/L), and 480 mg/L (12 mmol/L), and also with additions of ammonium and magnesium into the wastewater. Jar test results confirmed high phosphate removal, with more than 90% of the removal achieved with a pH as low as 7.7. Under the low calcium concentration, ammonium addition affected the chemical reactions at pH lower than 8.0, where struvite was produced; when the pH was raised to 8.8, other calcium compounds dominated the precipitation. Under the medium calcium concentration, ammonium and magnesium addition helped struvite precipitation in the low pH range. Hydroxyapatite (HAP) was the main product. Under the high calcium concentration, ammonium addition showed no effects on the precipitation.     

The earliest modern mongoose (Carnivora, Herpestidae) from Africa (late Miocene of Chad)

We report on the earliest modern mongooses of Africa, from the late Miocene (ca. 7 Ma) of the hominid locality TM 266, Toros-Menalla, Chad. The material is based on fragmentary dentitions of three individuals. The main diagnostic feature of the Chadian species is the great development of the shear in the carnassials, which distinguishes the Chadian specimens from all extant herpestids except Herpestes and Galerella. In comparison with most extinct and extant Herpestes, the species from Toros-Menalla differs by a markedly smaller size and, depending on the species, relatively more elongated carnassials, more transversely elongated M1 and more reduced p4. On the basis of a great morphological similarity and the absence of significant differences, we assign our material to Galerella sanguinea; the Chadian finding therefore represents the earliest appearance of an extant species of Herpestidae. This record ties the first appearance of the genus to a minimum age of ca. 7 Ma, which is consistent with the estimated divergence date of 11.4 Ma known from the literature for the species of Galerella.     

Efficiency in hydrocarbon degradation and biosurfactant production by Joostella sp. A8 when grown in pure culture and consortia

Joostella strains are emerging candidates for biosurfactant production. Here such ability was analyzed for Joostella strain A8 in comparison with Alcanivorax strain A53 and Pseudomonas strain A6, all previously isolated from hydrocarbon enrichment cultures made of polychaete homogenates. In pure cultures Joostella sp. A8 showed the highest stable emulsion percentage(78.33%), hydrophobicity rate(62.67%), and an optimal surface tension reduction during growth in mineral medium supplemented with diesel oil(reduction of about 12 mN/m), thus proving to be highly competitive with Alcanivorax and Pseudomonas strains. During growth in pure culture different level of biodegradation were detected for Alcanivorax strain A53(52.7%),Pseudomonas strain A6(38.2%) and Joostella strain A8(26.8%). When growing in consortia,isolates achieved similar abundance values, with the best efficiency that was observed for the Joostella-Pseudomonas co-culture. Gas-chromatographic analysis revealed an increase in the biodegradation efficiency in co-cultures(about 90%), suggesting that the contemporary action of different bacterial species could improve the process. Results were useful to compare the efficiencies of well-known biosurfactant producers(i.e. Pseudomonas and Alcanivorax representatives) with a still unknown biosurfactant producer, i.e. Joostella, and to confirm them as optimal biosurfactant-producing candidates.     

Integrated Use of GLEAMS and GIS to Prevent Groundwater Pollution Caused by Agricultural Disposal of Animal Waste

/ In modern intensive animal farming the disposal of a large amount of waste is of great concern, as, if not properly performed, it can cause the pollution of water, mainly because of the high content of nitrate and phosphate. This paper presents the results of a study intended to assess the environmental sustainability of animal waste disposal on agricultural soils in the alluvial plain of the River Chiana (Tuscany, Italy), a particularly sensitive area because of the high vulnerability of the shallow aquifer and of the intensive agricultural and breeding activities. With this aim, a strategy has been employed, that consists of the integrated use of a management model and GISs. The consequences on groundwater of applying animal waste to different kind of soils and crop arrangements have been simulated by means of the management model GLEAMS (Groundwater Loading Effects of Agricultural Management Systems, ver 2.01). As the huge amount of data required by such a sophisticated model does not allow applications at a scale larger than the field size, IDRISI and GRASS GIS packages have been used to divide the study area into land units, with homogeneous environmental characteristics, and then to generalize on these units the outputs of the model. The main conclusions can be synthesized as follows: The amount of animal waste produced in some of the investigated areas (i.e., municipal territory) is greater than that disposable on their own agricultural soil with no risks to the groundwater; consequently a cooperative approach among municipalities is necessary in order to plan waste disposal in a comprehensive and centralized way.KEY WORDS: Land use; Animal waste disposal; Groundwater protection; GIS, Management models     

Age and growth of the naticid gastropod <Emphasis Type="Italic">Polinices pulchellus</Emphasis> (Gastropoda: Naticidae) based on length frequency analysis and statolith growth rings

In Red Wharf Bay, UK the naticid gastropod, Polinices pulchellus, was more abundant and more highly aggregated during the summer months (June–August 2001) than during the winter (December 2000). Whilst small numbers of juvenile P. pulchellus (4–6 mm shell length) were present throughout the year the population consisted mainly of individuals of 12–14 mm shell length. Juvenile snails grew rapidly in size during the winter and early spring; growth then virtually ceased between May and June, following which there was a further period of rapid growth between August and February. Densities ranged between 57 and 4,073 ha⁻¹ and the largest individual collected during this investigation measured 16.2 mm in shell length. Statoliths from adult P. pulchellus revealed the presence of a settlement ring and two prominent growth rings (rings 1 and 2). A curvilinear relationship exists between statolith diameter and shell length in snails up to 16 mm in length. Settlement rings ranged in diameter from 19.7 to 45.2 μm (mean 29.8 μm; SE=0.41) giving an estimated shell length of the settled juvenile of 1.1 mm. The diameter of ring 1 and ring 2 were significantly correlated indicating that rapid growth during the first year is maintained during year 2. Shell lengths estimated from the diameters of the prominent statolith rings and those obtained from length frequency data analysis (LFDA), were broadly congruent strongly suggesting an annual periodicity to the statolith rings. The largest snails (>15 mm) present within this population were estimated to be between 2 and 3 years old. Von Bertallanfy seasonal growth curves obtained from the LFDA predicted values of L∞, K and t ₀ of 14.32 mm, 1.54 and −0.14 years, respectively, suggesting that P. pulchellus rapidly attains its maximum asymptotic size.