Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation

Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.     

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

Construction and demolition waste management in Kosovo: a survey of challenges and opportunities on the road to circular economy

Managing Construction and demolition waste (CDW) is a severe and growing urban challenge, particularly in post-conflict countries. Though Kosovo has significantly rebuilt and developed after the Liberation War, these initiatives have accompanied suboptimal waste management. This research evaluates CDW management in Kosovo by assessing current practices and operations vis-a-vis the legal framework and EU requirements. It identifies instruments and policies capable of ameliorating gaps and proposes a more sustainable and circular CDW management system for Kosovo. Information was primarily collected during on-site visits to Pristina and the surroundings by a cohort of Urban Management Students from the Technische Universität Berlin, students from Kosovo, and the local office of the Gesellschaft für Internationale Zusammenarbeit, GIZ. The analysis identified gaps in Kosovo's CDW management and its observance and enforcement of existing CDW legislation, including an ambiguous licensing system impeding sustainable demolition, storage, and transport; the absence of approved CDW storage options leading to uncontrolled disposal; and an underdeveloped market for recycling and reuse, deterring stakeholders from further pursuit of circular practices. These gaps were compounded by poor recordkeeping, obscuring precise information on CDW streams. Possible instruments and incentives to support Kosovo's transition to a more sustainable CDW management system were then identified.

     

Influence of suspended particles on the emission of organophosphate flame retardant from insulation boards

The influence of the presence of the so-called seed particles on the emission rate of Tris (1-chloroisopropyl) phosphate (TCIPP) from polyisocyanurate (PIR) insulation boards was investigated in this study. Two Field and Laboratory Emission Test cells (FLEC) were placed on the surface of the same PIR board and respectively supplied with clean air (reference FLEC) and air containing laboratory-generated soot particles (test FLEC). The behavior of the area-specific emission rates (SER _A ) over a time period of 10 days was studied by measuring the total (gas?+?particles) concentrations of TCIPP at the exhaust of each FLEC. The estimated SER _A of TCIPP from the PIR board at the quasi-static equilibrium were found to be 0.82 μg m^?2 h^?1 in the absence of seed particles, while the addition of soot particles led to SER _A of 2.16 μg m^?2 h^?1. This indicates an increase of the SER _A of TCIPP from the PIR board with a factor of 3 in the presence of soot particles. The TCIPP partition coefficient to soot particles at the quasi-static equilibrium was 0.022?±?0.012 m³ μg^?1. In the next step, the influence of real-life particles on TCIPP emission rates was investigated by supplying the test FLEC with air from a professional kitchen where mainly frying and baking activities took place. Similar to the reference FLEC outcomes, SER _A was also found to increase in this real-life experiment over a time period of 20 days by a factor 3 in the presence of particles generated during cooking activities. The median value of estimated particle–gas coefficient for this test was 0.062?±?0.037 m³ μg^?1.