483 research outputs found

    Interpretation of multispectral and infrared thermal surveys of the Suez Canal Zone, Egypt

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    Remote sensing airborne surveys were conducted, as part of the plan of rehabilitation, of the Suez Canal Zone using I2S multispectral camera and Bendix LN-3 infrared passive scanner. The multispectral camera gives four separate photographs for the same scene in the blue, green, red, and near infrared bands. The scanner was operated in the microwave bands of 8 to 14 microns and the thermal surveying was carried out both at night and in the day time. The surveys, coupled with intensive ground investigations, were utilized in the construction of new geological, structural lineation and drainage maps for the Suez Canal Zone on a scale of approximately 1:20,000, which are superior to the maps made by normal aerial photography. A considerable number of anomalies belonging to various types were revealed through the interpretation of the executed multispectral and infrared thermal surveys

    Amenability of heap leaching technology on uranium extraction from Gattar and El Missikat area, Eastern Desert, Egypt: A kinetic approach

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    Studies of uranium heap leaching from different uranium mineralization situated in Eastern Desert of Egypt was investigated via batch experiments, followed by its optimum condition applicationon column percolationtests.The optimum process operating parameters were implemented on large column scale in order to make more condition control and evaluate the time and reagents needed in the large scale. The results show thatleaching efficiency of GIIattained about 78.3% with 34kg/ton acid consumption in a 44 days period, while leaching efficiency of El-Missikat attained about 86.6% with 28kg/ton acid consumption in a 40 days period.Kinetics reaction models of column tests have been investigated to optimize the column leaching behavior. Based on the leaching results of two mineralized samples, the rate of the uranium metal dissolution is controlled by the chemical reaction and the diffusion reaction but diffusion reaction control was more predominate than a chemical reaction control

    CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma

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    Purpose: Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in PCG Egyptian patients, and study a possible genotype/phenotype correlation.Methods: Ninety-eight patients with PCG diagnosed at the Ophthalmology department ofAlexandria Main University Hospital were enrolled. Demographic and phenotypic characteristics were recorded. Patients and 100 healthy subjects (control group) were screened for two mutations in CYP1B1 gene (G61E, R368H) and one mutation in MYOC gene (Gln48His) using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Phenotypic characteristics pertaining to disease severity were compared.Results: Nineteen patients (19%) with PCG were found positive for one or more of the mutations screened for. Seven patients (7%) were homozygous for the G61E mutation. Ten patients (10%) were heterozygous; 6 for the G61E mutation, 2 for the R368H mutation and 2 for the Gln48His mutation. Two patients (2%) were double heterozygotes harboring a R368H as well as a Gln48His mutation. The most common mutation observed was the G61E in 13 patients; 7 homozygotes and 6 heterozygotes for the mutation. The control group were negative for all mutations screened for. No significant correlations between the mutations and phenotype severity were detected. A statistically significant positive correlation however was found between the different mutations andeach of the IOP and the cup/disk ratio.Conclusion: The current study further endorses the role of CYP1B1 mutations in the etiology of PCG among Egyptian patients and is the first study to report MYOC gene mutation in Egyptian patients with PCG

    RETENTION OF ZN, PB, CU AND CD METAL IONS ONTO SEWAGE IRRIGATED SOIL

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    The sorption isotherm and kinetic of Cu2+, Pb2+, Zn2+ , and Cd2+ ions onto sewage irrigated soil (El-Gebal El Aasfar-Qalubia) was examined as a function of the retention time and initial ion concentration using batch equilibrium sorption experiments. Results show that the Cu, Pb, Zn and Cd metal ions onto the soil is relatively rapid and sorption reaches equilibrium at about 240 minutes. Kinetics of the sorption process on the soil is well characterized by the pseudo-second order reaction rate. Langmuir, Freundlich and D–R isotherm models are fitted for the sorption of Cu2+, Pb2, Zn2+, and Cd2+ ions onto the soil. The constants of all models were calculated for each metal ion and compared. It indicated clear differences between the sorption characteristics of Cu2+, Pb2+, Zn2+, and Cd2+ ions on the sewage irrigated soil

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

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    Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

    New Triazoloquinoxaline Ligand and its Polymeric 1D Silver(I) complex Synthesis, Structure, and Antimicrobial activity

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    The organic ligand 4-Benzyl-1-(N,N-dimethylamino)-[1,2,4]triazolo[4,3a]quinoxaline 1 (L) and its polymeric silver(I) complex, [Ag2L(NO3)2]n (2), have been synthesized and characterized. The organic ligand 1 crystallizes in the triclinic space group P¯1. The unit cell contains two parallel-stacked molecules. The complex [Ag2L(NO3)2]n (2) crystallizes in the monoclinic space group P21/n. The structure contains two different silver(I) ions. Ag(2) is coordinated by three oxygens (involving two nitrate groups) and to a nitrogen of the triazole ring of 1. These ligands form a strongly distorted tetrahedral, nearly planar coordination sphere. Ag(1) has an approximately tetrahedral geometry. It is bonded to one oxygen of a nitrate anion and a nitrogen of two different L; this aspect giving rise to an infinite chain structure. A final bond to Ag(1) involves the carbon of a phenyl group. It is more weakly bonded to the phenyl carbons on either side of this, so that the Ag(1)-phenyl bonding has aspects of an Ag-allyl bond. Ag(1) and Ag(2) participate in bonding to a common nitrate anion and alternate, the two distinct modes of bridging between them lead to a zig-zag chain structure. In addition to spectroscopic studies, the biological activities of the ligand and of the complex were scanned over a wide range of Gram positive and Gram negative flesh- and bone-eating bacteria. The results are discussed in comparison with well-known antibiotics

    A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs.

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    Familial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. While sarcomeric gene mutations explain many HCM cases, the genetic basis of about half of HCM cases remains elusive. Here we aimed to identify the gene causing HCM in a non-consanguineous Saudi Arabian family with affected family members and a history of sudden death. The impact of the identified mutation on protein structure and potential drug targets were evaluated in silico. Triplets (two HCM subjects and one patent ductus arteriosus (PDA) case) and unaffected parents were screened by targeted next-generation sequencing (NGS) for 181 candidate cardiomyopathy genes. In silico structural and functional analyses, including protein modeling, structure prediction, drug screening, drug binding, and dynamic simulations were performed to explore the potential pathogenicity of the variant and to identify candidate drugs. A homozygous missense mutation in exon 1 of TMP1 (assembly GRCh37-chr15: 63340781; G>A) was identified in the triplets [two HCM and one patent ductus arteriosus (PDA)] that substituted glycine for arginine at codon 3 (p.Gly3Arg). The parents were heterozygous for the variant. The mutation was predicted to cause a significant and deleterious change in the TPM1 protein structure that slightly affected drug binding, stability, and conformation. In addition, we identified several putative TPM1-targeting drugs through structure-based in silico screening. TPM1 mutations are a common cause of HCM and other congenital heart defects. To date, TPM1 has not been associated with isolated PDA; to our knowledge, this is the first report of the homozygous missense variation p.Gly3Arg in TPM1 associated with familial autosomal recessive pediatric HCM and PDA. The identified candidate TPM1 inhibitors warrant further prospective investigation.This research was supported by the Strategic Technologies Programs of the National Plan for Science, Technology and Innovation (MAARIFAH), Kingdom of Saudi Arabia. Project No: 12-MED3174-05, through the Science and Technology Unit (STU), Taibah University, Al Madinah Al Munawwarah, Kingdom of Saudi Arabia

    Thermal and mechanical properties of hemp fabric-reinforced nanoclay-cement nano-composites

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    The influence of nanoclay on thermal and mechanical properties of hemp fabric-reinforced cement composite is presented in this paper. Results indicate that these properties are improved as a result of nanoclay addition. An optimum replacement of ordinary Portland cement with 1 wt% nanoclay is observed through improved thermal stability, reduced porosity and water absorption as well as increased density, flexural strength, fracture toughness and impact strength of hemp fabric-reinforced nanocomposite. The microstructural analyses indicate that the nanoclay behaves not only as a filler to improve the microstructure but also as an activator to promote the pozzolanic reaction and thus improve the adhesion between hemp fabric and nanomatrix

    ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability

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    Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we use the recently identified JBTS-associated protein ARMC9 in tandem-affinity purification and yeast two-hybrid screens to identify a novel ciliary module composed of ARMC9-TOGARAM1-CCDC66-CEP104- CSPP1. TOGARAM1-variants cause JBTS and disrupt its interaction with ARMC9. Using a combination of protein interaction analyses and characterization of patient-derived fibroblasts, CRISPR/Cas9-engineered zebrafish and hTERT-RPE1 cells, we demonstrate that dysfunction of ARMC9 or TOGARAM1 results in short cilia with decreased axonemal acetylation and glutamylation, but relatively intact transition zone function. Aberrant serum-induced ciliary resorption and cold-induced depolymerization in both ARMC9 and TOGARAM1 patient cells lines suggest a role for this new JBTS-associated protein complex in ciliary stability
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