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.
In this paper, the homotopy perturbation method (HPM) is presented for treating a linear system of second-kind mixed Volterra-Fredholm integral equations. The method is based on constructing the series whose summation is the solution of the considered system. Convergence of constructed series is discussed and its proof is given; also, the error estimation is obtained. Algorithm is suggested and applied on several examples and the results are computed by using MATLAB (R2015a). To show the accuracy of the results and the effectiveness of the method, the approximate solutions of some examples are compared with the exact solution by computing the absolute errors.
Background. Implant insertion in regions with poor bone quantity, such as the posterior maxilla, is potentially associated with an increased rate of implant failure. Calcium sulfate can be used as the coating material for commercially pure titanium (CpTi) and as the bone graft material around implants when bound to eggshell powder to enhance the bone quality and quantity of bone defect regions. This study performed a torque removal test to evaluate the effectiveness of eggshell powder as a bone substitute for filling bone defects around CpTi-coated implants coated with nanocrystalline calcium sulfate. Materials and Methods. Eighty screw implant designs were used in the tibiae of 20 white New Zealand rabbits. A total of uncoated 20 s
... Show MoreAbstract
The problem of missing data represents a major obstacle before researchers in the process of data analysis in different fields since , this problem is a recurrent one in all fields of study including social , medical , astronomical and clinical experiments .
The presence of such a problem within the data to be studied may influence negatively on the analysis and it may lead to misleading conclusions , together with the fact that these conclusions that result from a great bias caused by that problem in spite of the efficiency of wavelet methods but they are also affected by the missing of data , in addition to the impact of the problem of miss of accuracy estimation
... Show MoreVideogames are currently one of the most widespread means of digital communication and entertainment; their releases are attracting considerable interest with growing number of audience and revenues each year. Videogames are examined by a variety of disciplines and fields. Nevertheless, scholarly attention concerned with the discourse of videogames from a linguistic perspective is relatively scarce, especially from a pragma-stylistic standpoint. This book addresses this vital issue by providing a pragma-stylistic analysis of the digital discourse of two well-known action videogames (First Person Shooter Games). It explores the role of the digital discourse of action videogames in maintaining real-like interactivity between the game and the
... Show MoreThe current research aims to find out the extent to which students of the Faculty of Education for Pure Sciences\/Ibn al-Haitham have owned laboratory academic skills, the researcher adopted a descriptive research approach to conform to the goal of the research, the research sample the consisted of 140 students from the Department of Chemistry Phase II, The research tool, which consisted of a measure of laboratory academic skills, which consisted of seven skills and consisted of 28 paragraphs (four paragraphs per field), was prepared and the pent-up scale was chosen because the selected sample were university students, and the results showed the ownership of students' skills of laboratory academic skills other than skill The use of the libr
... Show MoreBackground: Generally, genetic disorders are a leading cause of spontaneous abortion, neonatal death, increased morbidity and mortality in children and adults as well. They a significant health care and psychosocial burden for the patient, the family, the healthcare system and the community as a whole. Chromosomal abnormalities occur much more frequently than is generally appreciated. It is estimated that approximately 1 of 200 newborn infants had some form of chromosomal abnormality. The figure is much higher in fetuses that do not survive to term. It is estimated that in 50% of first trimester abortions, the fetus has a chromosomal abnormality. Aim of the study: This study aims to shed some light on the results of chromosomal studies per
... Show Moret-Self-Compacting Concrete (SCC) reduces environmental noise and has more workability. This research presents an investigation of the behavior of SCC under mechanical loading (impact loading). Two types of cement have been used to produce SCC mixtures, Ordinary Portland Cement (OPC) and Portland Limestone Cement (PLC), which reduces the emission of carbon dioxide during the manufacturing process. The mixes were reinforced with Carbon Fiber Reinforced Polymer (CFRP) which is usually used to improve the seismic performance of masonry walls, to replace lost steel reinforcements, or to increase column strength and ductility. Workability tests were carried out for fresh SCC. Prepared concrete slabs of 500×500×50mm were tested for lo
... Show MorePhotonic Crystal Fiber Interferometers (PCFIs) are widely used for sensing applications. This work presents the fabrication and the characterization of a relative humidity sensor based on a polymer-coated photonic crystal fiber that operates in a Mach- Zehnder Interferometer (MZI) transmission mode. The fabrication of the sensor involved splicing a short (1 cm) length of Photonic Crystal Fiber (PCF) between two single-mode fibers (SMF). It was then coated with a layer of agarose solution. Experimental results showed that a high humidity sensitivity of 29.37 pm/%RH was achieved within a measurement range of 27–95%RH. The sensor also showed good repeatability, small size, measurement accuracy and wide humidity range. The RH sensitivity o
... Show MoreThe study deals with the issue of multi-choice linear mathematical programming. The right side of the constraints will be multi-choice. However, the issue of multi-purpose mathematical programming can not be solved directly through linear or nonlinear techniques. The idea is to transform this matter into a normal linear problem and solve it In this research, a simple technique is introduced that enables us to deal with this issue as regular linear programming. The idea is to introduce a number of binary variables And its use to create a linear combination gives one parameter was used multiple. As well as the options of linear programming model to maximize profits to the General Company for Plastic Industries product irrigation sy
... Show More