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.
Circular thin walled structures have wide range of applications. This type of structure is generally exposed to different types of loads, but one of the most important types is a buckling. In this work, the phenomena of buckling was studied by using finite element analysis. The circular thin walled structure in this study is constructed from; cylindrical thin shell strengthen by longitudinal stringers, subjected to pure bending in one plane. In addition, Taguchi method was used to identify the optimum combination set of parameters for enhancement of the critical buckling load value, as well as to investigate the most effective parameter. The parameters that have been analyzed were; cylinder shell thickness, shape of stiffeners section an
... Show MoreAbstract: The researcher aims to highlight the historical frames of political development in royal regime era (1921-1949) and study its transitions on social-political aspect for the various periods during this consistent era of Iraq history. As some elements played an important role in shaping this era’s features ,as well as 2hat succeed it, which mainly affected the political progression’s configuration, such as : political culture role, social and cultural foundation, state policy essence and the unofficial institutions remarkable role in influencing public awareness and concerning it's relation to the state ,the clan and religious institutions. The researcher employed Alexis de Tocqueville’s evaluation criteria and indi
... Show MoreMassive multiple-input multiple-output (massive-MIMO) is considered as the key technology to meet the huge demands of data rates in the future wireless communications networks. However, for massive-MIMO systems to realize their maximum potential gain, sufficiently accurate downlink (DL) channel state information (CSI) with low overhead to meet the short coherence time (CT) is required. Therefore, this article aims to overcome the technical challenge of DL CSI estimation in a frequency-division-duplex (FDD) massive-MIMO with short CT considering five different physical correlation models. To this end, the statistical structure of the massive-MIMO channel, which is captured by the physical correlation is exploited to find sufficiently
... Show MoreFree Radical Copolymerization of Styrene/ Methyl Methacrylate were prepared chemically under Nitrogen ,which was investigated, in the present of Benzoyl Peroxide as Initiator at concentration of 2 × 10-3 molar at 70 °C, which was carried out in Benzene as solvent to a certain low conversion . FT-IR spectra were used for determining of the monomer reactivity ratios ,which was obtained by employing the conventional linearization method of Fineman-Ross (F-R) and Kelen-Tüdos (K- T). The experimental results showed the average value for the Styrene r1 / Methyl Methacrylate r2 system, Sty r1 = 0.45 , MMA r2 = 0.38 in the (F–R) Method and r1 = 0.49 , r2 = 0.35 in the (K–T) Method, The Results of this indicated show the random distri
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Codes of red, green, and blue data (RGB) extracted from a lab-fabricated colorimeter device were used to build a proposed classifier with the objective of classifying colors of objects based on defined categories of fundamental colors. Primary, secondary, and tertiary colors namely red, green, orange, yellow, pink, purple, blue, brown, grey, white, and black, were employed in machine learning (ML) by applying an artificial neural network (ANN) algorithm using Python. The classifier, which was based on the ANN algorithm, required a definition of the mentioned eleven colors in the form of RGB codes in order to acquire the capability of classification. The software's capacity to forecast the color of the code that belongs to an ob
... Show MoreNow-a-days the Flexible AC Transmission Systems (FACTS) technology is very effective in improving the power flow along the transmission lines and makes the power system more flexible and controllable. This paper deals with the most robust type of FACTS devices; it’s a Unified Power Flow Controller (UPFC). Many cases have been taken to study how the system behaves in the presence and absence of the UPFC under normal and contingency conditions. The UPFC is a device that can be used to improve the bus voltage, increasing the loadability of the line and reduce the active and reactive power losses in the transmission lines, through controlling the flow of real and reactive power. Both the magnitude and the phase angle of th
... Show MoreThe accumulation of sediment in reservoirs poses a major challenge that impacts the storage capacity, quality of water, and efficiency of hydroelectric power generation systems. Geospatial methods, including Geographic Information Systems (GIS) and Remote Sensing (RS), were used to assess Dukan Reservoir sediment quantities. Satellite and reservoir water level data from 2010 to 2022 were used for sedimentation assessment. The satellite data was used to analyze the water spread area, employing the Normalized Difference Water Index (NDWI) and Modified Normalized Difference Water Index (MNDWI) to enhance the water surface in the satellite imagery of Dukan Reservoir. The cone formula was employed to calculate the live storag
... Show MoreBearing capacity of soil is an important factor in designing shallow foundations. It is directly related to foundation dimensions and consequently its performance. The calculations for obtaining the bearing capacity of a soil needs many varying parameters, for example soil type, depth of foundation, unit weight of soil, etc. which makes these calculation very variable–parameter dependent. This paper presents the results of comparison between the theoretical equation stated by Terzaghi and the Artificial Neural Networks (ANN) technique to estimate the ultimate bearing capacity of the strip shallow footing on sandy soils. The results show a very good agreement between the theoretical solution and the ANN technique. Results revealed that us
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