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.
Reduce the required time for measuring the permeability of clayey soils by using new manufactured cell
سرطان البنكرياس هو مرض ذو معدل وفيات مرتفع، ولا يزال التشخيص المبكر لسرطان البنكرياس يمثل تحديًا. يظل معدل البقاء النسبي لمدة 5 سنوات أقل من 8%، والاستراتيجيات العلاجية غير فعالة في زيادة معدلات بقاء المريض على قيد الحياة. في خلايا سرطان البنكرياس، ارتبطت مقاومة العلاج بالتغيرات الجينية التي تؤدي إلى ظهور مسارات خلوية شاذة؛ ولذلك، هناك ما يبرر ايجاد استراتيجيات جديدة لعلاج هذا المرض. هنا، سعينا لاستكشاف
... Show MoreIn petroleum reservoir engineering, history matching refers to the calibration process in which a reservoir simulation model is validated through matching simulation outputs with the measurement of observed data. A traditional history matching technique is performed manually by engineering in which the most uncertain observed parameters are changed until a satisfactory match is obtained between the generated model and historical information. This study focuses on step by step and trial and error history matching of the Mishrif reservoir to constrain the appropriate simulated model. Up to 1 January 2021, Buzurgan Oilfield, which has eighty-five producers and sixteen injectors and has been under production for 45 years when it started
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A research study in which a methodology for quality indicators that can be adopted to evaluate the educational process in educational institutions within a specific strategy helps individuals in charge of educational education to make appropriate decisions based on accurate and properly approved plans to achieve successful outcomes.
These indicators can be used to judge the quality of educational institutions in order to improve, improve and develop them. This study has concluded the necessity of putting quality into actual application in order to benefit from it in evaluating the future action of Iraqi educational institutions.
The external changes brought about by technology and family life have made the
... Show MoreThe surface finish of the machining part is the mostly important characteristics of products quality and its indispensable customers’ requirement. Taguchi robust parameters designs for optimizing for surface finish in turning of 7025 AL-Alloy using carbide cutting tool has been utilized in this paper. Three machining variables namely; the machining speeds (1600, 1900, and 2200) rpm, depth of cut (0.25, 0.50, 0.75) mm and the feed rates (0.12, 0.18, 0.24) mm/min utilized in the experiments. The other variables were considered as constants. The mean surface finish was utilized as a measuring of surface quality. The results clarified that increasing the speeds reduce the surface roughness, while it rises with increasing the depths and fee
... Show MoreThe dynamic development of computer and software technology in recent years was accompanied by the expansion and widespread implementation of artificial intelligence (AI) based methods in many aspects of human life. A prominent field where rapid progress was observed are high‐throughput methods in biology that generate big amounts of data that need to be processed and analyzed. Therefore, AI methods are more and more applied in the biomedical field, among others for RNA‐protein binding sites prediction, DNA sequence function prediction, protein‐protein interaction prediction, or biomedical image classification. Stem cells are widely used in biomedical research, e.g., leukemia or other disease studies. Our proposed approach of
... Show MoreThis work involves three parts , first part is manufacturing different types of laminated below knee prosthetic socket materials with different classical laminated materials used in Baghdad center for prosthetic and orthotic (4perlon layers+2carbon fiber layer+4 perlon layers) , two suggested laminated materials(3perlon layers+2carbon fiber layer+3 perlon layers) and (3perlon layers+1carbon fiber layer+3 perlon layers) ) in order to choose perfect laminated socket . The second part tests (Impact test) the laminated materials specimens used in socket manufacturing in order to get the impact properties for each socket materials groups using an experimental rig designed especially for this purpose. The interface pressure between
... Show MoreA Geographic Information System (GIS) is a computerized database management system for accumulating, storage, retrieval, analysis, and display spatial data. In general, GIS contains two broad categories of information, geo-referenced spatial data and attribute data. Geo-referenced spatial data define objects that have an orientation and relationship in two or three-dimensional space, while attribute data is qualitative data that can be counted for recording and analysis. The main aim of this research is to reveal the role of GIS technology in the enhancement of bridge maintenance management system components such as the output results, and make it more interpretable through dynamic colour coding and more sophisticated vi
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