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.
Fourier Transform-Infrared (FT-IR) spectroscopy was used to analyze gasoline engine oil (SAE 5W20) samples that were exposed to seven different oxidation times (0 h, 24 h, 48 h, 72 h, 96 h, 120 h, and 144 h) to determine the best wavenumbers and wavenumber ranges for the discrimination of the oxidation times. The thermal oxidation process generated oil samples with varying total base number (TBN) levels. Each wavenumber (400–3900 cm−1) and wavenumber ranges identified from the literature and this study were statistically analyzed to determine which wavenumbers and wavenumber ranges could discriminate among all oxidation times. Linear regression was used with the best wavenumbers and wavenumber ranges to predict oxidation time.
... Show MoreAccurate calculation of transient overvoltages and dielectric stresses from fast-front excitations is required to obtain an optimal dielectric design of power components subjected to these conditions, which are commonly due to switching and lightning, as well as utilization of power-electronic devices. Toroidal transformers are generally used at the low voltage level. However, recent investigations and developments have explored their use at the medium voltage level. This paper analyzes the model-based improvement of the insulation design of medium voltage toroidal transformers. Lumped and distributed parameter models are used and compared to predict the transient response and dielectric stress along the transformer winding. The parameters
... Show MoreA system was used to detect injuries in plant leaves by combining machine learning and the principles of image processing. A small agricultural robot was implemented for fine spraying by identifying infected leaves using image processing technology with four different forward speeds (35, 46, 63 and 80 cm/s). The results revealed that increasing the speed of the agricultural robot led to a decrease in the mount of supplements spraying and a detection percentage of infected plants. They also revealed a decrease in the percentage of supplements spraying by 46.89, 52.94, 63.07 and 76% with different forward speeds compared to the traditional method.
This study included the isolation and identification of Aspergillus flavus isolates associated with imported American rice grains and local corn grains which collected from local markets, using UV light with 365 nm wave length and different media (PDA, YEA, COA, and CDA ). One hundred and seven fungal isolates were identified in rice and 147 isolates in corn.4 genera and 7 species were associated with grains, the genera were Aspergillus ,Fusarium ,Neurospora ,Penicillium . Aspergillus was dominant with occurrence of 0.47% and frequency of 11.75% in rice grains whereas in corn grains the genus Neurospora was dominant with occurrence of 1.09% and frequency 27.25% ,results revealed that 20 isolates out of 50 A. flavus isolates were able
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