Prenatal genotyping of Gaucher disease in Egypt

Objective: To use chorionic villi sampling (CVS) and amniocentesis to determine the genotyping of Gaucher Disease (GD) of fetuses of pregnant mothers who had a previous child affected by GD.Methods: The study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave informed written consent. Thirty mothers presented early so they underwent CVS at 10–12 weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 14–16 weeks. Strip assay for the identification of Glucocerebrosidase (GBA) gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction (PCR) and reverse hybridization.Results: The age of the studied pregnant women ranged from 19 to 26 years. Consanguinity was present in 38 cases. Eighteen women were pregnant in affected fetuses. The results of genotyping revealed 15 cases were homozygous L444P/L444P and one case homozygous (N370s/N370s) while two cases were heterogeneous (L444P/D409H). Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P.Conclusion: This study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease. The study found out that the most common mutation was L444P/L444P.Keywords: Gaucher diseases; Prenatal diagnosis; Egypt; Gene; Mutatio

Is rhamnolipid biosurfactant useful in cadmium phytoextraction?

Purpose: Successful chelant-assisted phytoextraction requires application of an eco-friendly metal-complexing agent which enhances metal uptake but does not pose a significant risk of off-site movement of metals. Rhamnolipid biosurfactant has been used to enhance cadmium (Cd) removal from contaminated soil by washing. It has a strong affinity for Cd compared to some other hazardous metals, suggesting that rhamnolipid could be useful in Cd phytoextraction. This study investigated the potential use of rhamnolipid to enhance Cd phytoextraction. Materials and methods: Adsorption patterns of rhamnolipid in soils were investigated by batch adsorption experiments. Hydrophobicity of rhamnolipid–metal complexes were determined by assessing partitioning in an octanol/water system. Phytotoxicity of rhamnolipid to maize (Zea mays) and chelant-assisted phytoextraction efficiency of maize and sunflower (Helianthus annuus) were determined in pot experiments. Results and discussion: The results showed that rhamnolipid was prone to adsorb strongly to soil at low application rates (0.1–1.7 mM) possibly due to its hydrophobic interactions with soil organic matter, hence reducing its capacity to complex and transport metals to plant roots. Rhamnolipid mobility increased (i.e. decreased soil phase partitioning) at elevated concentrations (∼4.4 mM), which increased soil solution Cd concentrations possibly due to its reduced hydrophobic nature. The use of rhamnolipid at concentrations >4.4 mM severely reduced maize biomass yield, reducing the potential for chelantassisted phytoextraction. At lower concentrations of rhamnolipid (0.02–1.4 mmol/kg), there was insignificant enhancement of Cd accumulation by plant (Z. mays and H. annuus) shoots, likely through strong retention of the chelant (or Cd-associated rhamnolipid) on soil surfaces. Conclusions: High rates of rhamnolipid addition to soils in this study caused severe phytotoxicity to maize and sunflower. Lower rates of rhamnolpid addition to soils in this study did not improve Cd accumulation by plants. Therefore, the sorption of rhamnolipid (or Cd-associated rhamnolipid) to soils, along with the phytotoxicity and phytoextraction results, suggests that neither low nor high concentrations of rhamnolipid are likely to consistently assist Cd phytoextraction using maize or sunflower.Jia Wen, Mike J. McLaughlin, Samuel P. Stacey and Jason K. Kirb