A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes,identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. All other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.     

The ultrasonic detection of an isolated craniosynostosis

The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented.     

The association between ‘faint-positive’ amniotic fluid acetylcholinesterase and fetal malformations

The finding of a ‘faint-positive’ acetylcholinesterase band in amniotic fluid samples of women at 15 weeks' gestation or above is associated with an increased risk of fetal abnormalities, most commonly gastroschisis. This finding warrants a targeted sonographic evaluation, in order to rule out significant fetal malformations.     

Prenatal molecular diagnosis of gaucher disease

Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available.     

Phenolic water pollutants in a Malaysian River basin

Phenolic chemicals with their very low taste and odour thresholds, high persistence and toxicity, are of growing concern as water pollutants. The compounds are known to exist in raw water as well as in treated water. The level of phenolic priority pollutants in water within the catchment area of the Linggi River Treatment Plant in Negeri Sembilan, Malaysia, which includes the Linggi river basin, was monitored. The 4-aminoantipyrin colourimetric method was used to determine total phenols whereas capillary column gas chromatography was used to determine the individual compounds. The results show that at most sampling stations, particularly those within the Seremban municipality, the level of phenols was found to exceed the recommended Malaysian standard of 2.0 g/L^-1 for raw water. This is seen as the direct impact of industrial and urbanization of the area and clearly indicates the unhealthy state of the Linggi river. The results also indicate the need to improve the water quality if the river is going to be used as a source of raw water.     

Kinetic adsorption of application of carbon nanotubes for Pb(Ⅱ) removal from aqueous solution

The capability of carbon nanotubes (CNTs) to adsorb lead (Pb) in aqueous solution was investigated. Batch mode adsorption experiment was conducted to determine the effects of pH, agitation speed, CNTs dosage and contact time. The removal of Pb(Ⅱ) reached maximum value 85% or 83% at pH 5 or 40 mg/L of CNTs, respectively. Higher correlation coeffcients from Langmuir isotherm model indicates the strong adsorptions of Pb(Ⅱ) on the surface of CNTs (adsorption capacity Xm = 102.04 mg/g). The results indicates tha...     

Antenatal corticosteroids and outcomes in gastroschisis: A multicenter retrospective cohort study

Objective

In gastroschisis, there is evidence to suggest that gut dysfunction develops secondary to bowel inflammation; we aimed to evaluate the effect of maternal antenatal corticosteroids administered for obstetric reasons on time to full enteral feeds in a multicenter cohort study of gastroschisis infants.

Methods

A three center, retrospective cohort study (1992-2013) with linked fetal/neonatal gastroschisis data was conducted. The primary outcome measure was time to full enteral feeds (a surrogate measure for bowel function) and secondary outcome measure was length of hospital stay. Analysis included Mann-Whitney and Cox regression.

Results

Of 500 patients included in the study, 69 (GA at birth 34 [25-38] weeks) received antenatal corticosteroids and 431 (GA at birth 37 [31-41] weeks) did not. Antenatal corticosteroids had no effect on the rate of reaching full feeds (Hazard ratio HR 1.0 [95% CI: 0.8-1.4]). However, complex gastroschisis (HR 0.3 [95% CI: 0.2-0.4]) was associated with an increased time to reach full feeds and later GA at birth (HR 1.1 per week increase in GA [95% CI: 1.1-1.2]) was associated with a decreased time to reach full feeds.

Conclusion

Maternal antenatal corticosteroids use, under current antenatal steroid protocols, in gastroschisis is not associated with an improvement in neonatal outcomes such as time to full enteral feeds or length of hospital stay.     

Sustainability assessment of large-scale ethanol production from sugarcane

The present study assesses the sustainability of ethanol produced from sugarcane and examines the environmental feasibility of a large-scale production through the use of: fossil fuel embodied energy and Emergy Assessment including farm and industrial production phases. The study indicates that about 1.82 kg of topsoil eroded, 18.4 l of water and 1.52 m² of land are needed to produce 1 l of ethanol from sugarcane. Also, 0.28 kg of CO₂ is released per liter of ethanol produced. The energy content of ethanol is 8.2 times greater than the fossil-based energy required to produce it. The transformity of ethanol is about the same as those calculated for fossil fuels. The Renewability of ethanol is 30%, a very low value; other emergy indices indicate important environmental impacts as well as natural resources consumption. The results obtained indicate that sugarcane and ethanol production present low renewability when a large-scale system is adopted.