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.
BACKGROUND: SARS-CoV-2 (COVID-19) is considered a highly infectious and life threatening disease. OBJECTIVE: The present paper aims to evaluate various aspects of preventive measures and clinical management of the scheduled visits for orthodontic patients to the dental clinics during the outbreak of COVID-19, and to assess how orthodontists dealt with this challenge. METHODS: Orthodontists in private and public clinics were invited to fill a questionnaire that addressed infection control protocols and concerns about clinical management of patients in the clinics during the pandemic. Frequncies and percentages of the responses were obtained and compared using Chi-square tests. RESULTS: About 77% of those working in private clinics, a
... Show MoreAbstract Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
... Show MoreAbstract Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
... Show MoreIn this paper, an intelligent tracking control system of both single- and double-axis Piezoelectric Micropositioner stage is designed using Genetic Algorithms (GAs) method for the optimal Proportional-Integral-Derivative (PID) controller tuning parameters. The (GA)-based PID control design approach is a methodology to tune a (PID) controller in an optimal control sense with respect to specified objective function. By using the (GA)-based PID control approach, the high-performance trajectory tracking responses of the Piezoelectric Micropositioner stage can be obtained. The (GA) code was built and the simulation results were obtained using MATLAB environment. The Piezoelectric Micropositioner simulation model with th
... Show MoreThe objective of the current research is to find an optimum design of hybrid laminated moderate thick composite plates with static constraint. The stacking sequence and ply angle is required for optimization to achieve minimum deflection for hybrid laminated composite plates consist of glass and carbon long fibers reinforcements that impeded in epoxy matrix with known plates dimension and loading. The analysis of plate is by adopting the first-order shear deformation theory and using Navier's solution with Genetic Algorithm to approach the current objective. A program written with MATLAB to find best stacking sequence and ply angles that give minimum deflection, and the results comparing with ANSYS.
Heuristic approaches are traditionally applied to find the optimal size and optimal location of Flexible AC Transmission Systems (FACTS) devices in power systems. Genetic Algorithm (GA) technique has been applied to solve power engineering optimization problems giving better results than classical methods. This paper shows the application of GA for optimal sizing and allocation of a Static Compensator (STATCOM) in a power system. STATCOM devices used to increase transmission systems capacity and enhance voltage stability by regulate the voltages at its terminal by controlling the amount of reactive power injected into or absorbed from the power system. IEEE 5-bus standard system is used as an example to illustrate the te
... Show MoreIn this paper, the researcher suggested using the Genetic algorithm method to estimate the parameters of the Wiener degradation process, where it is based on the Wiener process in order to estimate the reliability of high-efficiency products, due to the difficulty of estimating the reliability of them using traditional techniques that depend only on the failure times of products. Monte Carlo simulation has been applied for the purpose of proving the efficiency of the proposed method in estimating parameters; it was compared with the method of the maximum likelihood estimation. The results were that the Genetic algorithm method is the best based on the AMSE comparison criterion, then the reliab
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