Prenatal exclusion of Hurler's disease by leucocyte α-L-iduronidase assay

Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate.     

A strategic design approach to develop sustainable product service systems: examples taken from the ‘environmentally friendly innovation’ Italian prize

The product service systems’ (PSS) sustainability potential is described in the framework of the new types of stakeholder relationships and/or partnerships, producing new convergence of economic interests, and a potential concomitant systemic resources optimization.In this perspective, it is argued that the design competencies should move towards those of the ‘strategic design’, thus introducing the concept of ‘strategic design for sustainability’: the design of an innovation strategy, shifting the business focus from designing (and selling) physical products only, to designing (and selling) a system of products and services which are jointly capable of fulfilling specific client demands, while re-orienting current unsustainable trends in production and consumption practices.Some examples of PSS are presented and discussed using the PSS categories ‘services providing added value to the product life cycle’, ‘services providing final results to customers’, and ‘services providing enabling platforms for customers’. The cases derive from an analysis of the ‘environmental friendly innovation’ yearly endowed prize submissions. The Politecnico di Milano University together with the Bocconi University and Legambiente (an environmental NGO) promotes the initiative in Italy.     

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Internal circulating fluidized bed incineration system and design algorithm

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