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.
Celiac disease (CD) is an inflammatory small intestinal disorder that can lead to severe villous atrophy, and malabsorption . Since the measurement of α-amylase activity is the most widely used biochemical test for the diagnosis of pancreatic and non pancreatic disease , therefore serum α-amylase were studied in the present study in an attempt to evaluate the usefulness of this enzyme in the diagnosis of celiac disease and its relationship with anti gliadin IgA and IgG and serum glucose . Thirty one patients with celiac disease were studied and compared with twenty four healthy individuals . Significant elevation of α-amylase activity , glucose and anti gliadin IgA and IgG were observed in the sera of patients with celiac diseas
... Show MorePolycystic ovary syndrome (PCOS) referring to a syndrome that is recognized as a life-course disease and has both metabolic and reproductive signs; main pathophysiological cause includes insulin resistance, hyperandrogenism, and oxidative stress state. The study aimed to assess the impact of combining Myoinositol and Metformin, the main insulin-sensitizing drugs, on improving clinical, metabolic, and hormonal parameters in females with PCOS. A clinical trial that was prospective, randomized, and comparative on 54 patients (aged 18-40 y) are divided into three groups: group1 patients allocated to receive Myo-inositol(4g), group2 patients assigned to receive Metformin(1g) and group3 patients assigned to receive Myo-inositol(4g) + Metformin
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The integration of decision-making will lead to the robust of its decisions, and then determination optimum inventory level to the required materials to produce and reduce the total cost by the cooperation of purchasing department with inventory department and also with other company,s departments. Two models are suggested to determine Optimum Inventory Level (OIL), the first model (OIL-model 1) assumed that the inventory level for materials quantities equal to the required materials, while the second model (OIL-model 2) assumed that the inventory level for materials quantities more than the required materials for the next period. &nb
... Show MoreMaximizing the net present value (NPV) of oil field development is heavily dependent on optimizing well placement. The traditional approach entails the use of expert intuition to design well configurations and locations, followed by economic analysis and reservoir simulation to determine the most effective plan. However, this approach often proves inadequate due to the complexity and nonlinearity of reservoirs. In recent years, computational techniques have been developed to optimize well placement by defining decision variables (such as well coordinates), objective functions (such as NPV or cumulative oil production), and constraints. This paper presents a study on the use of genetic algorithms for well placement optimization, a ty
... Show MoreAbstract: Word sense disambiguation (WSD) is a significant field in computational linguistics as it is indispensable for many language understanding applications. Automatic processing of documents is made difficult because of the fact that many of the terms it contain ambiguous. Word Sense Disambiguation (WSD) systems try to solve these ambiguities and find the correct meaning. Genetic algorithms can be active to resolve this problem since they have been effectively applied for many optimization problems. In this paper, genetic algorithms proposed to solve the word sense disambiguation problem that can automatically select the intended meaning of a word in context without any additional resource. The proposed algorithm is evaluated on a col
... Show MoreAs s widely use of exchanging private information in various communication applications, the issue to secure it became top urgent. In this research, a new approach to encrypt text message based on genetic algorithm operators has been proposed. The proposed approach follows a new algorithm of generating 8 bit chromosome to encrypt plain text after selecting randomly crossover point. The resulted child code is flipped by one bit using mutation operation. Two simulations are conducted to evaluate the performance of the proposed approach including execution time of encryption/decryption and throughput computations. Simulations results prove the robustness of the proposed approach to produce better performance for all evaluation metrics with res
... Show MoreSurvival analysis is the analysis of data that are in the form of times from the origin of time until the occurrence of the end event, and in medical research, the origin of time is the date of registration of the individual or the patient in a study such as clinical trials to compare two types of medicine or more if the endpoint It is the death of the patient or the disappearance of the individual. The data resulting from this process is called survival times. But if the end is not death, the resulting data is called time data until the event. That is, survival analysis is one of the statistical steps and procedures for analyzing data when the adopted variable is time to event and time. It could be d
... Show MoreIn this paper, the botnet detection problem is defined as a feature selection problem and the genetic algorithm (GA) is used to search for the best significant combination of features from the entire search space of set of features. Furthermore, the Decision Tree (DT) classifier is used as an objective function to direct the ability of the proposed GA to locate the combination of features that can correctly classify the activities into normal traffics and botnet attacks. Two datasets namely the UNSW-NB15 and the Canadian Institute for Cybersecurity Intrusion Detection System 2017 (CICIDS2017), are used as evaluation datasets. The results reveal that the proposed DT-aware GA can effectively find the relevant features from
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