Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.
The vast advantages of 3D modelling industry have urged competitors to improve capturing techniques and processing pipelines towards minimizing labour requirements, saving time and reducing project risk. When it comes to digital 3D documentary and conserving projects, laser scanning and photogrammetry are compared to choose between the two. Since both techniques have pros and cons, this paper approaches the potential issues of individual techniques in terms of time, budget, accuracy, density, methodology and ease to use. Terrestrial laser scanner and close-range photogrammetry are tested to document a unique invaluable artefact (Lady of Hatra) located in Iraq for future data fusion sc
An innovative desalination method called electrosorption or capacitive deionization (CDI) has significant benefits for wastewater treatment. This process is performed by using a carbon fiber electrode as a working electrode to remove hexavalent chromium ions from an aqueous solution. The pH, NaCl concentration, and cell voltage were optimized using the Box-Behnken experimental design (BDD) in response surface methodology (RSM) to study the effects and interactions of selected variables. To attain the relationship between the process variables and chromium removal, the experimental data were subjected to an analysis of variance and fitted with a quadratic model. The optimum conditions to remove Cr(VI) ions were: pH of 2, a cell voltage of 4.
... Show MoreCommercial, industrial, and military activity, largely in the 19th and 20th centuries, have led to environmental pollution that can threaten human health and ecosystem function, liquid gas petroleum (LPG) products are the major sources of energy for industry and daily life that cause environmental contamination during various stages of production, transportation, refining and use. Screening of bacterial isolate by using clear zone techniques and biomass and optical density. Results revealed that isolate Burkholdaria cepatia showed a high ability for hydrocarbons biodegradation and this isolate identified depending on morphological cultural, gram stain, microscopic features, biochemical tests, and VITEK2 compact. In this study,
... Show MoreIn this study, silver nanoparticles (AgNPs) were synthesized using a cold plasma technique and a plasma jet. They were then used to explore how photothermal treatment may be used to treat lung cancer (A549) and normal cells (REF) <i>in vitro</i>. The anti-proliferative activity of these nanoparticles was studied after A549 cells were treated with (AgNPs) at various concentrations (100%, 50%, or 25%) and exposure times (6 or 8 min) of laser after 1 h or 24 h from exposed AgNPs. The highest growth inhibition for cancer cells is (75%) at (AgNPs) concentration (100%) and the period of exposure to the laser is (8 min). Particle size for the prepared samples varied according to the diameter o
... Show MoreThe disposal of textile effluents to the surface water bodies represents the critical issue especially these effluents can have negative impacts on such bodies due to the presence of dyes in their composition. Biological remediation methods like constructed wetlands are more cost-effective and environmental friendly technique in comparison with traditional methods. The ability of vertical subsurface flow constructed wetlands units for treating of simulated wastewater polluted with Congo red dye has been studied in this work. The units were packed with waterworks sludge bed that either be unplanted or planted with Phragmites australis and Typha domingensis. The efficacy of present units was evaluated by monitoring of DO, Temperature, COD
... Show MoreIn this study used three methods such as Williamson-hall, size-strain Plot, and Halder-Wagner to analysis x-ray diffraction lines to determine the crystallite size and the lattice strain of the nickel oxide nanoparticles and then compare the results of these methods with two other methods. The results were calculated for each of these methods to the crystallite size are (0.42554) nm, (1.04462) nm, and (3.60880) nm, and lattice strain are (0.56603), (1.11978), and (0.64606) respectively were compared with the result of Scherrer method (0.29598) nm,(0.34245),and the Modified Scherrer (0.97497). The difference in calculated results Observed for each of these methods in this study.