Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy

The main difficulty in developing a molecular diagnosis of spinal muscular atrophy (SMA) resides in the specific genomic structure of the locus. Indeed, two highly homologous survival motor neurone genes, SMN1 and SMN2, are present at the locus. The detection of the homozygous deletion of exons 7 and 8 of the SMN1 gene, which is present in 90 to 98% of the patients, is based on methods highlighting 1 of the 8 nucleotidic mismatches existing between these 2 genes. In order to offer preimplantation genetic diagnosis (PGD) for SMA, we developed a new allele-specific amplification method. The main disadvantage of our previously described strategy resided in the possibility of diagnosing, in case of amplification failure, an unaffected embryo as affected. We present here a new PGD-SMA method. We established the conditions for three different duplex PCRs, allowing the specific detection of the SMN1 gene and one polymorphic marker, either D5S629, D5S1977, or D5S641. Of the 60 to 90 single cells tested, the PCR efficiency varied from 98 to 100% with a complete genotype obtained in a range between 81 and 87% with a global allele drop-out rate of 9%. Such a test was used to perform 1 PGD cycle for which 7 embryos could be analysed. All the embryos were fully diagnosed, six as unaffected and one as affected. Four embryos were transferred, but no pregnancy ensued. Copyright © 2003 John Wiley & Sons, Ltd.     

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3–pter monosomy and 6q25.2–qter trisomy. Copyright © 2003 John Wiley & Sons, Ltd.     

Mercury uptake and effects on growth in Jatropha curcas

The use of metal-accumulating plants for the phytoremediation of contaminated soils is gaining more attention. Mercury(Hg)-contaminated soils from historical gold mines represent a potential risk to human health and the environment. Therefore, Jatropha curcas plant, that has shown its tolerance to these environments, is a species of particular interest to implement phytoremediation techniques in gold mining sites. In this work, the behavior of J. curcas was assessed in different hydroponic cultures fortified with Hg at concentrations of 5, 10, 20, 40, and 80 μg Hg/mL(T5, T10, T20, T40 and T80, respectively). After exposure,plant growth, net photosynthesis, leaf area, and Hg accumulation were determined and variables such as net Hg uptake, effective Hg accumulation, translocation and bioaccumulation factors were calculated. Accumulation of Hg in root and leaf tissues increased with respect to the Hg concentrations in the hydroponic culture, with statistically significant differences(p 0.05) among treatments. Moreover, Hg concentration in roots was 7 and 12-fold higher in average than in plant leaves and shoots, respectively. Many effects were found in the development of plants, especially related with loss of biomass and leaf area,with significant growth inhibition related to control values( 50% with treatment T5).Moreover, percentage of inhibition was even higher( 60%) with same treatment for net photosynthesis. Finally, it should be highlighted that for T40 and T80 treatments, plant growth and photosynthesis were almost completely depleted(88%–95%).     

The adaptive capacity of institutions in the spatial planning,water, agriculture and nature sectors in the Netherlands

The climate change problem calls for a continuously responding society. This raises the question: Do our institutions allow and encourage society to continuously adapt to climate change? This paper uses the Adaptive Capacity Wheel (ACW) to assess the adaptive capacity of formal and informal institutions in four sectors in the Netherlands: spatial planning, water, agriculture and nature. Formal institutions are examined through an assessment of 11 key policy documents and informal institutions are analysed through four case studies covering each sector. Based on these ACW analyses, both sector-specific and more general strengths and weaknesses of the adaptive capacity of institutions in the Netherlands are identified. The paper concludes that the most important challenge for increasing institutional adaptive capacity lies in combining decentralized, participatory approaches with more top-down methods that generate leadership (visions, goals) standards, instruments, resources and monitoring.     

Ploidy-, gender-, and dose-dependent alteration of selected biomarkers in Clarias gariepinus treated with benzo[a]pyrene

Naturally-occurring and artificially-induced polyploids have been documented in various fish species but to date no comparison has been reported of the impacts of ploidy on fish biomarker responses to organic pollutants. This study describes effects of ploidy, gender, and dose on biliary fluorescent aromatic compound (FAC) concentrations, hepatic ethoxyresorufin-O-deethylase (EROD) and glutathione S-transferase (GST) activities in one of the most commonly cultured warm-water species, the African catfish Clarias gariepinus. Recently matured male and female diploid and triploid fish were intraperitoneally (i.p.) injected with 0, 5 or 25 mg/kg benzo[a]pyrene (BaP) and liver and gallbladder were sampled 48 hr later. No significant differences were found between ploidies in bile concentrations of 7,8 dihydrodiolbenzo[a]pyrene (7,8D BaP), 1-hydroxybenzo[a]pyrene (1-OH BaP) or 3-hydroxybenzo[a]pyrene (3-OH BaP). However, concentrations of the biliary FACs did differ between males and females at different dose of injection with generally higher concentrations in females at the low dose of BaP and higher concentrations in males at the higher BaP concentration. Hepatic EROD activity did not exhibit gender-dependent difference, whereas it was significantly higher in triploids than diploids. GST activities were not significantly influenced by any of the tested factors. This work advanced our understanding of the role of ploidy, gender, and dose in biotransformation of pollutants in fish.     

Curcumin and Its Analogs as a Therapeutic Strategy in Infections Caused by RNA Genome Viruses

Food and Environmental Virology - The use of natural resources for the prevention and treatment of diseases considered fatal to humanity has evolved. Several medicinal plants have nutritional and...