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

Diagnostic tools in Rhinology EAACI position paper

This EAACI Task Force document aims at providing the readers with a comprehensive and complete overview of the currently available tools for diagnosis of nasal and sino-nasal disease. We have tried to logically order the different important issues related to history taking, clinical examination and additional investigative tools for evaluation of the severity of sinonasal disease into a consensus document. A panel of European experts in the field of Rhinology has contributed to this consensus document on Diagnostic Tools in Rhinology

The resource potential of in-situ shallow ground water use in irrigated agriculture: a review.

The original publication can be found at www.springerlink.comShallow ground water is a resource that is routinely overlooked when water management alternatives are being considered in irrigated agriculture. Even though it has the potential to provide significant quantities of water for crop use under the proper conditions and management. Crop water use from shallow groundwater is affected by soil water flux, crop rooting characteristics, crop salt tolerance, presence of a drainage system, and irrigation system type and management. This paper reviews these factors in detail and presents data quantifying crop use from shallow ground, and describes the existing state of the art with regard to crop management in the presence of shallow ground water. The existing data are used to determine whether in-situ crop water use from shallow ground water is suitable for a given situation. The suggested methodology uses ratios of ground water electrical conductivity to the Maas– Hoffman yield loss threshold values, the day to plant maturity relative to plant growth period, and the maximum rooting depth relative to the nearly saturated zone. The review demonstrates that for in-situ use to be feasible there has to be good quality ground water relative to crop salt tolerance available for an extended period of time. Shallow ground water availability is one area that can be managed to some extent. Crop selection will be the primary determinant in the other ratios.J. E. Ayars , E. W. Christen, R. W. Soppe and W. S. Meye

Severe Autoimmune Diseases

This section deals with ovarian protection in non-malignant, rheumatic or other autoimmune diseases. Since these diseases are disproportionately common in young women, knowledge of the negative effects of immunosuppressive agents on the ovarian reserve, as well as the possibilities and limitations of ovarian protective measures, even in this particular patient population, is essential. According to current data, we should offer patients at increased risk of POI treatment with GnRH analogues when using cyclophosphamide. In addition, the use of ovarian cryopreservation (short time frame, sufficiently high ovarian reserve) should be generously considered. Ovarian stimulation therapy is only advisable in rare cases, as many patients are at risk of exacerbation of the underlying disease