Inter-individual and within-brood variability in the fatty acid profiles of Norway lobster, <Emphasis Type="Italic">Nephrops norvegicus</Emphasis> (L.) embryos

The present study investigated the existence of inter-individual and within-brood variability in the fatty acid (FA) profile of developing embryos of Nephrops norvegicus. In all surveyed females (n = 5), the quantitatively most important FAs were as follows: 22:6n-3 (20.8 ± 3.9% average of total FA ± standard error), 18:1n-9 (19.5 ± 2.0%), 16:0 (15.2 ± 3.4%), 20:5n-3 (10.2 ± 1.4%), 16:1n-7 (8.9 ± 1.6%), and 18:1n-7 (5.7 ± 1.3%). Differences in FA profiles of embryos in the same clutch were assessed using brooding chamber side (left and right) and pleopod (1st and 2nd, 3rd and 4th, and 5th) as predictive factors. There were no significant differences in the FA composition of embryos sampled from both sides of the brooding chamber in 4 of the 5 surveyed females. However, all females exhibited significant differences in the FA profiles of embryos sampled from different pleopods. Both saturated FA (SFA) and highly unsaturated FA (HUFA) present in developing embryos exhibited marked differences along the breeding chamber. Overall, FA reserves appeared to vary significantly within broods, which can ultimately be reflected on early larval survival. A potential cause for the within-brood variation recorded in the FA profile of developing embryos include (1) differential female investment during ovarian maturation, mainly due to variation in food quality/availability; (2) differential lipid catabolism during the incubation period of developing embryos, as a consequence of embryos position within the female’s brooding chamber; or (3) differential female investment during ovarian maturation amplified by differential lipid catabolism during the incubation period.     

Occurrence and ecological risk assessment of pharmaceuticals and cocaine in the urban drainage channels of Santos beaches (São Paulo,Brazil): a neglected,but sensitive issue

Environmental Science and Pollution Research - In some Brazilian coastal cities, it is common to observe ‘black tongues’ in beaches, i.e. a mixture of urban runoff and untreated...     

Lung function among residents from the largest coal region in Brazil

Environmental Science and Pollution Research - Coal mining and burning activities in coal-fired power plants are among the most polluting activities in developing countries. In Brazil, the Candiota...     

Taking full advantage of modelling to better assess environmental risk due to xenobiotics—the all-in-one facility MOSAIC

Environmental Science and Pollution Research - In the European Union, more than 100,000 man-made chemical substances are awaiting an environmental risk assessment (ERA). Simultaneously, ERA of...     

Using different multivariate approaches to assess water quality of qanats in arid zones of Southern Central Mexico

Environmental Science and Pollution Research - Qanats in the aquifer of the Tehuacán Valley (Mexico) represent an ancient way of using groundwater that is still practiced today. They are used...     

Prenatal sonographic diagnosis of Malpuech syndrome

Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Copyright © 2006 John Wiley & Sons, Ltd.     

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Recently, we have witnessed the rapid translation into clinical practice of non-invasive prenatal testing for the common aneuploidies, most notably within the United States and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium-risk pregnancies identified by serum screening and/or ultrasound scanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single-gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour-intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single-gene disorders, and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here, we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders. © 2013 John Wiley & Sons, Ltd.