Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha-fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p- (Wolf-Hirschhorn) syndrome.     

Resolution of DNA linkage discrepancies through analysis of a VNTR locus in a family study of cystic fibrosis

First-trimester prenatal diagnosis of a fetus at 25 per cent risk for cystic fibrosis (CF) was performed by indirect linkage analysis of polymorphic markers using Southern blotting and polymerase chain reaction (PCR) amplification. The results revealed discrepancies in the allelic patterns between the father and the affected child, thereby complicating the prediction of fetal outcome. Analysis of a highly polymorphic VNTR locus within the human retinoblas-toma (RB) gene on chromosome 13 showed that the affected child and the fetus did not have the same biological father, and therefore the affected child could not be used to determine linkage of markers in the father of the fetus. The analysis of VNTR loci can be an effective method of resolving conflicting data during prenatal diagnosis of monogenic diseases.     

Intrapericardial teratoma with hydrops leading to in utero demise

We report a case of intrapericardial teratoma following in utero demise at 29 weeks with nonimmune hydrops. The diagnosis was strongly suggested by ultrasound findings and confirmed by fetopathology. The mechanism whereby intrapericardial teratomas may lead to hydrops and death is massive pericardial effusion responsible for compressive tamponade. When prenatal diagnosis is performed before this stage, in utero interventions can obtain decompression, and the birth can be planned with rapid and appropriate management of the neonate. Copyright © 2007 John Wiley & Sons, Ltd.     

Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

No Sustainability without Technical, Fiscal and Social Innovation

Officially, the environmental protection from industrial insults began with Rachel Carson＇s book ＂The Silent Spring＂ in 1963. Protection priorities have since changed. They can be grouped into three successive phases.     

Multiple radon entry modeling in a house with a cellar.

Combining a computational fluid dynamics (CFD) model and a multi-zonal model, a study was carried out on radon entry through the complex substructure of a house with a cellar. The uniqueness of the radon entry problem in this type of house was due to the involvement of two radon entry routes to two chambers: the cellar and the living area of the house. Soil gas carrying radon was driven through the two routes by two coupled disturbance pressures in the chambers. The effects of temperature differences were considered as another driving force for the radon entry. Examined in this study were the effects of the geometry of the substructure, air permeability of the soil, air-tightness of the cellar shell, and cellar ventilation on radon entry to both the cellar and the living area. The ground floor covering on top of the soil outside a cellar wall increased radon entry through this wall by about 68%, as radon built up to a very high level under the covering. The effect of cellar ventilation was found as follows: the cellar ventilation created a layer of airflow in the soil under the ground floor; the flow passed over a crack in the ground floor, the entry route to the living area, diluting the radon in the area. Hence, the soil gas entering the living area carried less radon. Cellar ventilation seems more effective in reducing radon entry to the living area in a more permeable soil and leaky cellar shell; a moderate cellar ventilation condition achieved 77% reduction in radon entry to the area. When permeability of these two materials was lower and soil radon content remained the same, the chances of radon entry was also lower; hence, the indoor radon level was lower and no radon control was needed. When such soil contains high radon concentration, other mitigation measures must be sought.     

Use of mix of clay/solid waste from steel works for civil construction materials.

The present study focuses on the use of solid waste generated by the steel works in Brazil for manufacturing clay-based structural products. The waste sample was characterized regarding chemical composition, X-ray diffraction, particle size, morphology, specific surface and plastic properties. The waste was added in gradual proportions to a kaolinitic clay from zero up to 3 wt.%. Ceramic bodies were formed by vacuum extrusion and fired at 950 degrees C. The physical-mechanical properties (linear shrinkage, water absorption, apparent density and flexural strength) of the resulting clay/solid waste mixtures were determined. In addition, leaching tests were performed according Brazilian Standards as well as a preliminary analysis of gases evolved during the thermal process. It was found that the solid waste is formed by irregular particles, ranging in size from 1 to 500 microm. The test results indicate that solid wastes generated by steel works can be used as filler in construction materials, thereby increasing reuse in an environmentally safe manner.