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 impacts of numerous important factors on the Energy Absorption (EA) of torsional Reinforced Concrete (RC) beams strengthened with external FRP is the main purpose and innovation of the current research. A total of 81 datasets were collected from previous studies, focused on the investigation of EA behaviour. The impact of nine different parameters on the Torsional EA of RC-beams was examined and evaluated, namely the concrete compressive strength (f’c), steel yield strength (fy), FRP thickness (tFRP), width-to-depth of the beam section (b/h), horizontal (ρh) and vertical (ρv) steel ratio, angle of twist (θu), ultimate torque (Tu), and FRP ultimate strength (fy-FRP). For the evaluation of the energy absorption capacity at di
... Show MoreThe performance analyses of 15 kWp (kW peak) Grid -Tied solar PV system (that considered first of its type) implemented at the Training and Energy Research Center Subsidiary of Iraqi Ministry of Electricity in Baghdad city has been achieved. The system consists of 72 modules arranged in 6 strings were each string contains 12 modules connected in series to increase the voltage output while these strings connected in parallel to increase the current output. According to the observed duration, the reference daily yields, array daily yields and final daily yields of this system were (5.9, 4.56, 4.4) kWh/kWp/day respectively. The energy yield was 1585 kWh/kWp/year while the annual total solar irradiation received by solar array system was 198
... Show MoreThe aim of this research is to develop qualitative workouts based on certain sensory perceptions for the development of offensive basketball abilities and to determine their impact on female pupils. Several findings, based on the au-thor's extensive expertise instructing basketball materials and our closeness to the sample, revealed deficits in some sensory perceptions “in the game of basketball”, which impair the accuracy of passing the ball to the best team-mate. It also affects the pace of dribbling and the difficulty of selecting the op-timal moment and distance to fire. Therefore, the researcher designs qualita-tive activities based on many sensory experiences, including distance, speed, force, and direction shift. In addition, the
... Show MoreIn this work, a weighted H lder function that approximates a Jacobi polynomial which solves the second order singular Sturm-Liouville equation is discussed. This is generally equivalent to the Jacobean translations and the moduli of smoothness. This paper aims to focus on improving methods of approximation and finding the upper and lower estimates for the degree of approximation in weighted H lder spaces by modifying the modulus of continuity and smoothness. Moreover, some properties for the moduli of smoothness with direct and inverse results are considered.
This study was design to investigate the dimensional stability of heat-activated acrylic resin with different methods of flask cooling (15 minutes rapid cooling, one hour bench cooling, four hours delayed deflasking, and 24 hours delayed deflasking) at different time intervals (immediately, two days, seven days, 30 days) after deflasking. Heat-activated acrylic resin was used to prepare acrylic samples. Then, measurement of the distances where achieved between the centers of selected marks in the acrylic samples. They were measured at different time intervals for different methods of flask cooling. The results showed that the group samples of the four hours and 24 hours of delayed deflasking was insignificantly different from the control an
... Show MoreFiber Bragg Grating has many advantages where it can be used as a temperature sensor, pressure sensor or even as a refractive index sensor. Designing each of this fiber Bragg grating sensors should include some requirements. Fiber Bragg grating refractive index sensor is a very important application. In order to increase the sensing ability of fiber Bragg gratings, many methods were followed. In our proposed work, the fiber Bragg grating was written in a D-shaped optical fiber by using a phase mask method with KrFexcimer. The resultant fiber Bragg grating has a high reflectivity 99.99% with a Bragg wavelength of 1551.2 nm as a best result obtained from a phase mask with a grating period of 1057 nm. In this work it was found that the rota
... Show More