398 research outputs found

    Usage of Carbon Isotopes in Characterizing Groundwater Age, Flow Direction, Flow Velocity and Recharge Area

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    AbstractCarbon-13 and Carbon-14 isotopes were utilized in this study to determine the age, flow direction, flow velocity and recharge area of groundwater in the two main aquifers of Kuwait. For this purpose 20 groundwater samples were collected from the Kuwait group aquifer and lower Dammam formation aquifer. The collected groundwater samples were analyzed for 14C activity and 13C activity. 14C activity was measured using accelerator mass spectrometry (AMS) and expressed as percentage modern carbon (pmc) while 13C was measured using an isotope ratio mass spectrometer (IRMS) and expressed as permil (‰) in the form of CO2 gas. The interpretation of the analysis results of carbon isotopes data indicated that the general groundwater flow direction is towards north east and the estimated groundwater velocities are 11 to 30 m/a for Kuwait group aquifer and 12 to 21 m/a for Dammam formation aquifer. Based on the estimated groundwater velocities, the approximate location of the recharge areas of these aquifers was identified. The groundwater ages calculated for Kuwait group aquifer varied from 800 a B.P for modern ground water in the northern part to 22500 a B.P for very old groundwater in the northeastern part, while the age of Dammam formation groundwater is 26000 to 36000 a B.P

    Inhibitory Activity of Leaves Extracts of Citrullus colocynthis Schrad. on HT29 Human Colon Cancer Cells

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    Aims: Citrullus colocynthis is a plant endemic in Asia, Africa and in the Mediterranean basin. It is used in folk medicine against infections, inflammations and cardiovascular and immune-related diseases. There are further evidences of the use of Citrullus colocynthis Schrad in the treatment of cancer in traditional practices. The present study aimed to determine the potential antiproliferative effects of different Citrullus colocynthis leaf extracts on human cancer cells. Methodology: Antiproliferative and antioxidant effects on HT-29 human colon cancer cells were detected by MTS assay and a modified protocol of the alkaline Comet assay. In vitro antioxidant activities of different leaf extracts were evaluated through DPPH, \u3b2-carotene/linoleic acid and reducing power assays. Results: The leaf chloroform extract exhibited the higher cell growth inhibitory activity without induction of DNA damage; it showed to be able to significantly decrease DNA damage induced by H2O2 (100 M). This antioxidant activity seems to be comparable to that of vitamin C (1 mM). Ethyl acetate, acetone and methanol leaf extracts showed to be the most effective in reducing the stable free DPPH radical (IC50 =113 g/ml), in transforming the Fe3+ to Fe2+ (IC50 = 134 \ub5g/ml) and in inducing linoleic acid oxidation with an inhibition of 31.9 %. Conclusion: Our results confirm the antiproliferative potential of Citrullus colocynthis Schrad. on human cancer cells

    Diffeomorphic random sampling using optimal information transport

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    In this article we explore an algorithm for diffeomorphic random sampling of nonuniform probability distributions on Riemannian manifolds. The algorithm is based on optimal information transport (OIT)---an analogue of optimal mass transport (OMT). Our framework uses the deep geometric connections between the Fisher-Rao metric on the space of probability densities and the right-invariant information metric on the group of diffeomorphisms. The resulting sampling algorithm is a promising alternative to OMT, in particular as our formulation is semi-explicit, free of the nonlinear Monge--Ampere equation. Compared to Markov Chain Monte Carlo methods, we expect our algorithm to stand up well when a large number of samples from a low dimensional nonuniform distribution is needed.Comment: 8 pages, 3 figure

    Chemical and isotopic fractionation of lead in the surface soils of Egypt

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    Chemical fractionation via sequential extraction (SEP) combined with isotopic analysis of Pb was used to investigate the origins and reactivity of Pb in 66 topsoil samples collected from 12 different locations in Egypt. The total soil Pb concentrations (TPb) covered a wide range (∼80–16,000 mg kg−1), but were only elevated in four industrial and urban locations within Cairo and Alexandria. In all the other locations values of TPb were generally low and were close to the average crustal Pb concentration of 14 mg kg−1. The largest Pb fraction in all soils, with the exception of two industrial locations, was the ‘residual’ fraction (38–63% of TPb) followed by Pb bound to ‘organic’ and ‘metal oxide’ phases. The Pb isotopic signatures (206Pb/207Pb vs 208Pb/207Pb) of all samples in all SEP fractions were highly variable, suggesting a heterogeneous mix of Pb contamination sources; however, they aligned closely to a binary mixing line between geogenic and petrol Pb sources. There were similar Pb isotopic patterns across all of the non-residual fractions with measureable data (F2 – F4) suggesting that the non-residual anthropogenic-Pb and geogenic-Pb have been assimilated into common pools within the soil. Binary and ternary source-apportionment models based on Pb isotopic ratios and abundances showed that the relative contribution of petrol-Pb and geogenic-Pb can be ascribed with reasonable certainty. However, the contribution of further sources can only be accounted for if the isotopic abundance of all end-members are known and are at the periphery of the soils dataset

    RAX and anophthalmia in humans: Evidence of brain anomalies

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    PURPOSE: To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations. METHODS: Three patients with clinical anophthalmia and first-degree relatives from two consanguineous families of Egyptian origin underwent full ophthalmologic, general and neurologic examination, and blood tests. Cerebral magnetic resonance imaging (MRI) was performed in the index cases of both families. Genomic DNA was prepared from venous leukocytes, and direct sequencing of all the exons and intron-exon junctions of RAX was performed after PCR amplification. RESULTS: Clinical bilateral anophthalmia was observed in all three patients. General and neurologic examinations were normal; obesity and delay in psychomotor development were observed in the isolated case. Orbital MRI showed a hypoplastic orbit with present but rudimentary extraocular muscles and normal lacrimal glands. Cerebral MRI showed agenesis of the optic nerves, optic tracts, and optic chiasma. In the index case of family A, the absence of the frontal and sphenoidal sinuses was also noted. In the index case of family B, only the sphenoidal sinus was absent, and there was significant cortical atrophy. The three patients carried a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX. Parents were healthy heterozygous carriers. No mutations were detected in orthodenticle homeobox 2 (OTX2), ventral anterior homeobox 1 (VAX1), or sex determining region Y-box 2 (SOX2). CONCLUSIONS: This is the first report of a homozygous splicing RAX mutation associated with autosomal recessive bilateral anophthalmia. To our knowledge, only two isolated cases of anophthalmia, three null and one missense case affecting nuclear localization or the DNA-binding homeodomain, have been found to be caused by compound heterozygote RAX mutations. A novel missense RAX mutation was identified in three patients with bilateral anophthalmia and a distinct systemic and neurologic phenotype. The mutation potentially affects splicing of the last exon and is thought to result in a protein that has an aberrant homeodomain and no paired-tail domain. Functional consequences of this change still need to be characterized

    Meningococcal disease in children in Merseyside, England:a 31 year descriptive study

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    Meningococcal disease (MCD) is the leading infectious cause of death in early childhood in the United Kingdom, making it a public health priority. MCD most commonly presents as meningococcal meningitis (MM), septicaemia (MS), or as a combination of the two syndromes (MM/MS). We describe the changing epidemiology and clinical presentation of MCD, and explore associations with socioeconomic status and other risk factors. A hospital-based study of children admitted to a tertiary children's centre, Alder Hey Children's Foundation Trust, with MCD, was undertaken between 1977 to 2007 (n = 1157). Demographics, clinical presentations, microbiological confirmation and measures of deprivation were described. The majority of cases occurred in the 1-4 year age group and there was a dramatic fall in serogroup C cases observed with the introduction of the meningococcal C conjugate (MCC) vaccine. The proportion of MS cases increased over the study period, from 11% in the first quarter to 35% in the final quarter. Presentation with MS (compared to MM) and serogroup C disease (compared to serogroup B) were demonstrated to be independent risk factors for mortality, with odds ratios of 3.5 (95% CI 1.18 to 10.08) and 2.18 (95% CI 1.26 to 3.80) respectively. Cases admitted to Alder Hey were from a relatively more deprived population (mean Townsend score 1.25, 95% CI 1.09 to 1.41) than the Merseyside reference population. Our findings represent one of the largest single-centre studies of MCD. The presentation of MS is confirmed to be a risk factor of mortality from MCD. Our study supports the association between social deprivation and MCD

    Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family

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    Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing. Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele. Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consanguineous family. This report brings the number of VSX2 mutation in anophthalmia/microphthalmia (A/M) to 13. Functional consequences of the reported changes still need to be characterized, as well as the percentage of A/M caused by mutations in the VSX2 gene. This family also shows that despite consanguinity, heterozygous mutations can also happen and one should not restrict the molecular analysis to homozygous mutations

    'Mutations in LAMB2 associate with albuminuria and Optic Nerve Hypoplasia with Hypopituitarism'

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    CONTEXT: Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities and neurodevelopmental delay (Pierson Syndrome). CASE DESCRIPTION: This report describes a twelve year old boy with short stature, visual impairment and developmental delay who presented with macroscopic haematuria and albuminuria. He had isolated growth hormone deficiency, optic nerve hypoplasia and a small anterior pituitary with corpus callosum dysgenesis on his cranial MRI, thereby supporting a diagnosis of optic nerve hypoplasia syndrome. Renal histopathology revealed focal segmental glomerulosclerosis. Using next generation sequencing on a targeted gene panel for steroid resistant nephrotic syndrome, compound heterozygous missense mutations were identified in LAMB2 [c.737G>A p.Arg246Gln, c.3982G>C p.Gly1328Arg]. Immunohistochemical analysis revealed reduced glomerular laminin β2 expression compared to control kidney and a thin basement membrane on electron microscopy. Laminin β2 is expressed during pituitary development and Lamb2-/- mice exhibit stunted growth, abnormal neural retinae and here, we show, abnormal parenchyma of the anterior pituitary gland. CONCLUSION: We propose that patients with genetically undefined optic nerve hypoplasia syndrome should be screened for albuminuria and if present, screened for mutations in LAMB2
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