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.
This study presents a rapid, sensitive, and straightforward approach to measure chlorpheniramine maleate (CPM) by using turbidity CFIA. The method involves CPM reacting with sodium nitroprusside (Nitropress) to produce a pale white precipitate. The NAG-SSP-5S1D analyzer was used to measure turbidity at 0°–180° angle to detect the attenuation of incident light as a result of collision on the surfaces of the precipitate particles. The linear range of CPM measurements was between 0.008 and 11 m.mol/L, with correlation coefficient of 0.9983 and R2% = 99.65. The limit of detection was determined to be 0.0328 µg/sample from the lowest concentration in the calibration curve, and the repeatability of the method (RSD%) was less than 0.4% (n = 6
... Show MoreThe existing investigation explains the consequence of irradiation of violet laser on the optic properties of (CoO2) films. The film was equipped by the utilization of semi-computerized spray pyrolysis technique (SCSPT), it is the first time that this technique is used in the preparation and irradiation using a laser in this technique. From the XRD analysis, the crystalline existence with trigonal crystal system was when the received films were processed by continuous violet laser (405 nm) with power (1W) for different laser irradiation time using different number of times a laser scan (0, 6, 9, 12, 15 and 18 times) with total irradiation time(0,30,45,60,75,90 min
This study investigates the impact of spatial resolution enhancement on supervised classification accuracy using Landsat 9 satellite imagery, achieved through pan-sharpening techniques leveraging Sentinel-2 data. Various methods were employed to synthesize a panchromatic (PAN) band from Sentinel-2 data, including dimension reduction algorithms and weighted averages based on correlation coefficients and standard deviation. Three pan-sharpening algorithms (Gram-Schmidt, Principal Components Analysis, Nearest Neighbour Diffusion) were employed, and their efficacy was assessed using seven fidelity criteria. Classification tasks were performed utilizing Support Vector Machine and Maximum Likelihood algorithms. Results reveal that specifi
... Show MoreErratum for Organic acid concentration thresholds for ageing of carbonate minerals: Implications for CO2 trapping/storage.
Due to their recalcitrant characteristics, Azo dyes such as methyl orange (MO) are extremely poisonous substances, making their removal from textile industry wastewater a major problem. By employing various EC-Adsorption combined system configurations and reusing alum sludge as an adsorbent, the current study seeks to investigate the efficiency of these various systems in removing MO dye. To estimate their benefits and limitations, experiments were carried out utilizing nickel foam (NiF) and aluminum plate (Al plate) as anodes, and stainless-steel mesh (SS mesh) as cathode in the presence of alum sludge as an adsorbent in all systems. The EC-Adsorption combined system with NiF as anode and two SS meshes as cathodes with 10 g/L
... Show MoreThis study depicts the removal of Manganese ions (Mn2+) from simulated wastewater by combined electrocoagulation/ electroflotation technologies. The effects of initial Mn concentration, current density (C.D.), electrolysis time, and different mesh numbers of stainless steel screen electrodes were investigated in a batch cell by adopting Taguchi experimental design to explore the optimum conditions for maximum removal efficiency of Mn. The results of multiple regression and signal to noise ratio (S/N) showed that the optimum conditions were Mn initial concentration of 100 ppm, C.D. of 4 mA/cm2, time of 120 min, and mesh no. of 30 (wire/inch). Also, the relative significance of each factor was attained by the analysis of variance (ANO
... Show MoreThis study depicts the removal of Manganese ions (Mn2+) from simulated wastewater by combined electrocoagulation/ electroflotation technologies. The effects of initial Mn concentration, current density (C.D.), electrolysis time, and different mesh numbers of stainless steel screen electrodes were investigated in a batch cell by adopting Taguchi experimental design to explore the optimum conditions for maximum removal efficiency of Mn. The results of multiple regression and signal to noise ratio (S/N) showed that the optimum conditions were Mn initial concentration of 100 ppm, C.D. of 4 mA/cm2, time of 120 min, and mesh no. of 30 (wire/inch). Also, the relative significance of each factor was attained by the analysis
... Show MoreThe present study aimed to use the magnetic field and nanotechnology in the field of water purification, which slots offering high efficiency to the possibility of removing biological contaminants such as viruses and bacteria rather than the use of chemical and physical transactions such as chlorine and bromine, and ultraviolet light and boiling and sedimentation and distillation, ozone and others that have a direct negative impact on human safety and the environment. Where they were investigating the presence in water samples under study Coli phages using Single agar layer method and then treated samples positive for phages to three types of magnetic field fixed as follows (North Pole - South Pole - Bipolar) and compare the re
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