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/Objectives: The purpose of this study was to classify Alzheimer’s disease (AD) patients from Normal Control (NC) patients using Magnetic Resonance Imaging (MRI). Methods/Statistical analysis: The performance evolution is carried out for 346 MR images from Alzheimer's Neuroimaging Initiative (ADNI) dataset. The classifier Deep Belief Network (DBN) is used for the function of classification. The network is trained using a sample training set, and the weights produced are then used to check the system's recognition capability. Findings: As a result, this paper presented a novel method of automated classification system for AD determination. The suggested method offers good performance of the experiments carried out show that the
... Show MoreAbstract: Background: Prediabetes and are increasing in prevalence all over the world, they each carry risks to the future development of diabetes mellitus and cardiovascular disease. These risks will be greatly exaggerated if they occur together in the same individual. The aim of the study was to find the prevalence and the association of prediabetes and metabolic syndrome, in addition to analyzing the correlation of the risk factors that lead to their development. Material and Methods: This was a cross-sectional, simple random study that included 300 Iraqi individuals, aged between 30-75 years, who accepted to take part in this study were recruited. Result: Prevalence of prediabetes and metabolic syndrome was (33.66%) and (42%) r
... Show MoreIn this research, the focus was placed on estimating the parameters of the Hypoexponential distribution function using the maximum likelihood method and genetic algorithm. More than one standard, including MSE, has been adopted for comparison by Using the simulation method
98 samples were collected from various clinical sources included (Burns, wounds, urines, sputums, blood) From the city of Baghdad, After performing the biochemical and microscopic examination, 52 isolates were obtained for Pseudomonas aeruginosa, 17 (32.7%) isolates from burn infection, 12 (23%) isolates from Wound infection 11 (21.2%) isolates from urine infection, 7 (13.5%) isolates of sputum and 5 (9.6%) isolates from blood. Bacteria susceptibility to form biofilm has been detectedby microtiter plate method, The results showed that 80% of the bacterial isolates were produced the biofilm with different proportions, alg D gene (alginate production) has been detected by polymerase chain reaction (PCR) Which plays an essential role in the fo
... Show MoreA Genetic Algorithm optimization model is used in this study to find the optimum flow values of the Tigris river branches near Ammara city, which their water is to be used for central marshes restoration after mixing in Maissan River. These tributaries are Al-Areed, AlBittera and Al-Majar Al-Kabeer Rivers. The aim of this model is to enhance the water quality in Maissan River, hence provide acceptable water quality for marsh restoration. The model is applied for different water quality change scenarios ,i.e. , 10%,20% increase in EC,TDS and BOD. The model output are the optimum flow values for the three rivers while, the input data are monthly flows(1994-2011),monthly water requirements and water quality parameters (EC, TDS, BOD, DO and
... Show MoreCD40 is a type 1 transmembrane protein composed of 277 amino acids, and it belongs to the tumor necrosis factor receptor (TNFR) superfamily. It is expressed in a variety of cell types, including normal B cells, macrophages, dendritic cells, and endothelial cells, as a costimulatory molecule. This study aims to summarize the CD40 polymorphism effect and its susceptibility to immune-related disorders. The CD40 gene polymorphisms showed a significant association with different immune-related disorders and act as a risk factor for increased susceptibility to these diseases.
The study aims to achieve several objectives, including follow-up scientific developments and transformations in the modern concepts of the Holistic Manufacturing System for the purpose of identifying the methods of switching to the entrances of artificial intelligence, and clarifying the mechanism of operation of the genetic algorithm under the Holonic Manufacturing System, to benefit from the advantages of systems and to achieve the maximum savings in time and cost of machines Using the Holistic Manufacturing System method and the Genetic algorithm, which allows for optimal maintenance time and minimizing the total cost, which in turn enables the workers of these machines to control the vacations in th
... Show MoreBackground: Inhalation therapy has been employed as the mainstay of the treatment in chronic respiratory diseases such as asthma, Patients who taking asthma medication may be at risk of many health problems including oral health .The purpose of this study was to assess the local effect of ICS on oral tissue by measuring Candida albicans count colonies in saliva among12 years old asthmatic children who were collected from AL- Zahra Center Advisory for Allergy and Asthma, and compares them with non asthmatic children of the same age and gender. Material and Methods: The total sample involved sixty children of 12 years old, thirty asthmatic children who received medium dose of ICS/day (200-400 microgram/day) for 2 years and 30 non-asthmatic ch
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