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 research, the problem of multi- objective modal transport was formulated with mixed constraints to find the optimal solution. The foggy approach of the Multi-objective Transfer Model (MOTP) was applied. There are three objectives to reduce costs to the minimum cost of transportation, administrative cost and cost of the goods. The linear membership function, the Exponential membership function, and the Hyperbolic membership function. Where the proposed model was used in the General Company for the manufacture of grain to reduce the cost of transport to the minimum and to find the best plan to transfer the product according to the restrictions imposed on the model.
In this paper, the dynamic behaviour of the stage-structure prey-predator fractional-order derivative system is considered and discussed. In this model, the Crowley–Martin functional response describes the interaction between mature preys with a predator. e existence, uniqueness, non-negativity, and the boundedness of solutions are proved. All possible equilibrium points of this system are investigated. e sucient conditions of local stability of equilibrium points for the considered system are determined. Finally, numerical simulation results are carried out to conrm the theoretical results.
This paper presents a vibration suppression control design of cantilever beam using two piezoelectric patches. One patch was used as an actuator element, while the other was used as a sensor. The controller design was designed via the balance realization reduction method to elect the reduced order model that is most controllable and observable. the sliding mode observer was designed to estimate six states from the reduced order model but three states are only used in the control law. Estimating a number of states larger than that used is in order to increase the estimation accuracy. Moreover, the state estimation error is proved bounded. An optimal LQR controller is designed then using the estimated states with the slid
... Show MoreAn approximate solution of the liner system of ntegral cquations fot both fredholm(SFIEs)and Volterra(SIES)types has been derived using taylor series expansion.The solusion is essentailly
Minister Yacoub Ben Keles distinguished himself with leadership and administrative talents, as well as his abilities in the field of jurisprudence, which made him the top political, administrative and cultural scene of the Fatimid state and left its mark on it by influencing its fateful decisions.
He was the son of Kels of the Jews of Baghdad, where he learned writing and arithmetic, and moved with his father to Syria and then carried him to Egypt.
Egypt embraced the son of Kels, living in a transitional period from the Achaishid era to the Fatimid period. Both these two covenants reconciled this man to his career until he became minister in the Fatimids in 368 A.H. / 978 A.D.
His character was overshadowed by most of the state'
The optimum conditions for the production of neutral protease from local strain Aspergillus niger var carbonarius by solid – state fermentation system (Wheat bran) moisted with 0.2 M phosphate buffer (PH7.0) . the hydration ratio was 1:5 (V:W) . the concentration of inoculum was 1×106 spores per 10 gram of solid materials , initial P H 6.5 and 96 hours of incubation period at 30? C .the enzyme activity was 1300 unit / ml and specific activity was 1550 unit / mg protein .
Experimental investigation for small horizontal portable wind turbine (SHPWT) of NACA-44, BP-44, and NACA-63, BP-63 profiles under laboratory conditions at different wind velocity range of (3.7-5.8 m/s) achieved in present work. Experimental data tabulated for 2, 3, 4, and 6- bladed rotor of both profiles within range of blade pitch angles . A mathematical model formulated and computer Code for MATLAB software developed. The least-squares regression is used to fit experimental data. As the majority of previous works have been presented for large scale wind turbines, the aims were to present the performance of (SHPWT) and also to make a comparisons between both profiles to conclude which is the best performance. The overall efficiency and el
... Show MoreNonsteroidal anti-inflammatory drugs (NSAIDs) are drugs that help reduce inflammation, which often helps to relieve pain. In this research new ibuprofen oxothiazolidnone derivatives were synthesized from the reaction of Schiff base derivatives of Ibuprofen with mercapto acetic acid VI a-c, to improve the potency and to decrease the drug's potential side effects, a new series of 4-thiazolidinone derivatives of ibuprofen was synthesized VI a-c . The characterizations of the compounds were identified by using FTIR, 1HNMR technique and by measuring the physical properties.