Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur—fibula—ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.     

Trace metals in the western Mediterranean Sea∗

Data on Cd, Pb and Cu concentrations in seawater referring to five years of field studies on the western Mediterranean Sea are reported in order to present a space and time integrated situation on the levels of these metals. Surface total metal concentrations present rather homogeneous distributions between the different areas considered, including the Tyrrhenian Sea. The metal concentrations in three areas affected by natural and industrial wastes are also discussed. The vertical distribution of the dissolved Cd, Pb and Cu in the Alboran Sea seems to be rather homogeneous, both vertically and among the stations chosen between the Strait of Gibraltar and the Island of Alboran.     

Ecosystem-based adaptation to climate change: defining hotspot municipalities for policy design and implementation in Brazil

We developed an indicator that defines priority municipalities in order to facilitate the deployment of preventive policies and strategies for ecosystem-based adaptation to climate change (EbA) in Brazilian municipalities. Based on the premises that poor people are the population most vulnerable to climate change and that conservation and sustainable use of biodiversity and ecosystems are adaptive to climate change, our indicator uses three parameters: (1) poverty, (2) proportion of natural-vegetation cover, and (3) exposure to climate change. Thus, we searched for Brazilian municipalities that simultaneously belonged to the quartile of municipalities with the highest percentage of poverty, the quartile with the highest percentage of natural-vegetation cover, and the quartile with the highest exposure indices in two global climate models (Eta-HadGEM, Eta-Miroc). We found 398 (7.1%) EbA hotspots among 5565 Brazilian municipalities, which comprise 36% of the total area of native remnants in the country and are home to 22% of the poor people in Brazil. In their majority, these municipalities cover significant portions of the Amazon, Cerrado, Caatinga, and Atlantic forest, and indeed, these regions are recognised as some of the most vulnerable to climate change in the world. Considering the relevance of these biomes for the global water and nutrient cycle (Amazon), global food security (Cerrado), vulnerability to desertification (Caatinga), and biodiversity (all) we discuss the adaptive strategies in place, the need to bring them to scale, and existing policy gaps. Finally, in an effort to guide international and national investment and policies, we discuss how the approach described here can be applied to societies inhabiting tropical forests, savannas, and semiarid zones in other parts of the world. In particular, we propose that the indicator developed here is a simple and fast way to achieve early detection of priority municipalities for deployment of EbA action and policies, particularly in tropical developing countries.     

Brazilian LTER: Ecosystem and Biodiversity Information in Support of Decision-Making

Brazil officially joined the International Long Term Ecological Research (ILTER) network in January 2000, when nine research sites were created and funded by the Brazilian Council for Science and Technology (CNPq). Two-years later some positive signs already emerge of the scientific, social and political achievements of the Brazilian LTER program. We discuss examples of how ecosystem and biodiversity information gathered within a long-term research approach are currently subsidizing decision-making as regards biodiversity conservation and watershed management at local and regional scales. Success in this respect has often been related to satisfactory communication between scientists, private companies, government and local citizens. Environmental education programs in the LTER sites are playing an important role in social and political integration. Most examples of integration of ecological research to decision-making in Brazil derive from case studies at local or regional scale. Despite the predominance of a bottom-up integrative pathway (from case studies to models; from local to national scale), some top-down initiatives are also in order, such as the construction of a model to estimate the inpact of different macroeconomic policies and growth trajectories on land use. We believe science and society in Brazil will benefit of the coexistence of bottom-up and top-down integrative approaches.     

Social and geographical inequalities in prenatal care in Italy

The purpose of this study was to find out possible differences in prenatal diagnosis (PD) by amniocentesis or chorionic villus sampling and ultrasound examination before 16 weeks' gestation (early ultrasound examination, EUE), according to area of residence and level of education of the mothers. Data come from a multicentre study in Italy involving 43 maternity hospitals (Mercurio project) and were collected through structured interviews a few days after delivery. Study subjects were 1541 mothers of single non-malformed infants born between April 1992 and March 1994. Overall, the incidence of PD and EUE was 5.8 and 80 per cent, respectively. After adjustment for maternal age and other possible confounders, the odds ratios for PD were 2.19 (95 per cent confidence interval (CI)=1.26–3.81) when women residing in the northern regions were compared with those residing in the southern regions, and 2.06 (95 per cent CI=1.12–3.79) and 4.08 (95 per cent CI=1.97–8.42) when women with medium and high levels of education were compared with those with low level. For EUE, the odds ratios were 1.77 (95 per cent CI=1.32–2.36) and 2.88 (95 per cent CI=1.56–5.29) when comparing women with medium and high levels of education with those with low level. No relationship was found between area of residence and EUE. These geographical and social inequalities in prenatal care in Italy should be taken into account for the organization, delivery, and evaluation of pregnancy services in the coming years.     

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G → C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull. Copyright © 2004 John Wiley & Sons, Ltd.