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.
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 MoreToday, there are large amounts of geospatial data available on the web such as Google Map (GM), OpenStreetMap (OSM), Flickr service, Wikimapia and others. All of these services called open source geospatial data. Geospatial data from different sources often has variable accuracy due to different data collection methods; therefore data accuracy may not meet the user requirement in varying organization. This paper aims to develop a tool to assess the quality of GM data by comparing it with formal data such as spatial data from Mayoralty of Baghdad (MB). This tool developed by Visual Basic language, and validated on two different study areas in Baghdad / Iraq (Al-Karada and Al- Kadhumiyah). The positional accuracy was asses
... Show MoreThe performance analyses of 15 kWp (kW peak) Grid -Tied solar PV system (that considered first of its type) implemented at the Training and Energy Research Center Subsidiary of Iraqi Ministry of Electricity in Baghdad city has been achieved. The system consists of 72 modules arranged in 6 strings were each string contains 12 modules connected in series to increase the voltage output while these strings connected in parallel to increase the current output. According to the observed duration, the reference daily yields, array daily yields and final daily yields of this system were (5.9, 4.56, 4.4) kWh/kWp/day respectively. The energy yield was 1585 kWh/kWp/year while the annual total solar irradiation received by solar array system was 198
... Show MoreThe aim of this research is to develop qualitative workouts based on certain sensory perceptions for the development of offensive basketball abilities and to determine their impact on female pupils. Several findings, based on the au-thor's extensive expertise instructing basketball materials and our closeness to the sample, revealed deficits in some sensory perceptions “in the game of basketball”, which impair the accuracy of passing the ball to the best team-mate. It also affects the pace of dribbling and the difficulty of selecting the op-timal moment and distance to fire. Therefore, the researcher designs qualita-tive activities based on many sensory experiences, including distance, speed, force, and direction shift. In addition, the
... Show MoreThe success of endodontic therapy is relied on radicular system cleaning, shaping, elimination of micro-organisms, and three dimensional filling of the radicular complex.This study was conducted to develop and assess new root canal sealer incorporating nano-sized bioactive glass into Gutta Flow II. The following concentration was used depend on a pilot study included adding (3%) of 45S5 bioactive glass into the Gutta Flow II. These materials were tested through assessment bioactivity. bioactivity test was undertaken after immersion of the tested samples into PBS for three days, seven days, fourteen days, and twenty eight days using FTIR too. study was found that it’s peaks was appear at level 800-1000 cm-1. The results showed that GFII gr
... Show MoreThe uptake of Cd(II) ions from simulated wastewater onto olive pips was modeled using artificial neural network (ANN) which consisted of three layers. Based on 112 batch experiments, the effect of contact time (10-240 min), initial pH (2-6), initial concentration (25-250 mg/l), biosorbent dosage (0.05-2 g/100 ml), agitation speed (0-250 rpm) and temperature (20-60ºC) were studied. The maximum uptake (=92 %) of Cd(II) was achieved at optimum parameters of 60 min, 6, 50 mg/l, 1 g/100 ml, 250 rpm and 25ºC respectively.
Tangent sigmoid and linear transfer functions of ANN for hidden and output layers respectively with 7 neurons were sufficient to present good predictions for cadmium removal efficiency with coefficient of correlatio
... Show MoreAbstract—The upper limb amputation exerts a significant burden on the amputee, limiting their ability to perform everyday activities, and degrading their quality of life. Amputee patients’ quality of life can be improved if they have natural control over their prosthetic hands. Among the biological signals, most commonly used to predict upper limb motor intentions, surface electromyography (sEMG), and axial acceleration sensor signals are essential components of shoulder-level upper limb prosthetic hand control systems. In this work, a pattern recognition system is proposed to create a plan for categorizing high-level upper limb prostheses in seven various types of shoulder girdle motions. Thus, combining seven feature groups, w
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