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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>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.</p>
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Publication Date
Wed Apr 19 2017
Journal Name
Iraqi Dental Journal
Matching the Iris Color of Ocular Prosthesis Using an Eye Contact Lens: New Technique
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Publication Date
Wed Mar 29 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Experimental Study to Investigate the Effect of Polyacrylamide Gel to Reduce the Lost Circulation
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One of the challenging issues encountered during drilling operations is the lost circulation. Numerous issues might arise because of losses, such as wasting of time and higher drilling cost. Several types of lost circulation materials have been developed and are being used to limit mud losses and avoid associated issues. Each solution has benefits and drawbacks.

In this study, a core flooding test was performed to study the effectiveness of polyacrylamide (PAM) granular gel on the reduction of the circulation lost. One common type of fracture characteristic is fractures with tips, commonly known as partially open fracture (POF). However, PAM gel therapy in POFs received little attention in prior research. Models of partly open fra

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Publication Date
Tue May 01 2018
Journal Name
Iop Conference Series: Materials Science And Engineering
Evaluation of Electromagnetic Near-Field Measurement Technique as Non-Destructive Testing for Composite Structures
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Publication Date
Thu Sep 13 2018
Journal Name
Baghdad Science Journal
Estimation of some Organophosphorus Pesticides Using Carbon Paste Electrode Coupled with Molecularly Imprinted Polymers
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The aim of this study was to develop a sensor based on a carbon paste electrodes (CPEs) modified with used MIP for determination of organophosphorus pesticides (OPPs). The modified electrode exhibited a significantly increased sensitivity and selectivity of (OPPs). The MIP was prepared by thermo-polymerization method using N,N-diethylaminoethymethacrylate (NNDAA) as functional monomer, N,N-1,4-phenylenediacrylamide (NNPDA) as cross-linker, the acetonitrile used as solvent and (Opps) as the template molecule. The three OPPs (diazinon, quinalphos and chlorpyrifos) were chosen as the templates, which have been selected as base analytes which used widely in agriculture sector. The extraction efficiency of the imprinted polymers has been evaluat

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Publication Date
Sat Jan 01 2022
Journal Name
International Middle Eastern Simulation And Modelling Conference 2022, Mesm 2022,
MECHANICS OF COMPOSITE PLATE STRUCTURE REINFORCED WITH HYBRID NANO MATERIALS USING ARTIFICIAL NEURAL NETWORK
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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
THE PORTRAIT OF THE ARTIST AS A ROBOT: A LITERARY LOOK AT E-POETRY
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This study examines the validity of e-poetry as an acceptable literary genre. The
thematic, stylistic and esthetic features of a selected number of e-poems produced by
poetry generators are analyzed for this purpose. The e-poems are then compared with a
number of works written by Dada poets in order to establish the literary merit of the
former.

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Publication Date
Thu Feb 01 2018
Journal Name
Association Of Arab Universities Journal Of Engineering Sciences
Performance of composite unprotected steel Beam-deck floor exposed to high temperature (fire flame)
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An experimental program was conducted to determine the residual of composite Steel Beams-Reinforced Concrete (SB-RC) deck floors fabricated from a rolled steel beam topped with a reinforced concrete slab, exposed to high temperatures (fire flame) of 300, 500, and 700ºC for 1 hour, and then allowed to cool down by leaving them in the lab condition to return to the ambient temperature. The burning results showed that, by exposing them to a fire flame of up to 300ºC, no serious permanent deflection occurred. It was also noticed that the specimen recovered 93% of 19.2 mm of the deflection caused by burning. The recovered deflection of burned composite SB-RC deck floor at 500ºC was 40% of 77.9 mm of the deflection caused by burning with a res

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Publication Date
Thu Aug 25 2016
Journal Name
International Journal Of Mathematics Trends And Technology
Pretest Single Stage Shrinkage Estimator for the Shape Parameter of the Power Function Distribution
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Publication Date
Wed Nov 01 2017
Journal Name
International Journal Of Greenhouse Gas Control
Wettability of nano-treated calcite/CO2 /brine systems: Implication for enhanced CO2 storage potential
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Nanofluids are proven to be efficient agents for wettability alteration in subsurface applications including enhanced oil recovery (EOR). Nanofluids can also be used for CO2-storage applications where the CO2-wet rocks can be rendered strongly water-wet, however no attention has been given to this aspect in the past. Thus in this work we presents contact angle (θ) measurements for CO2/brine/calcite system as function of pressure (0.1 MPa, 5 MPa, 10 MPa, 15 MPa, and 20 MPa), temperature (23 °C, 50 °C and 70 °C), and salinity (0, 5, 10, 15, and 20% NaCl) before and after nano-treatment to address the wettability alteration efficiency. Moreover, the effect of treatment pressure and temperature, treatment fluid concentration (SiO2 wt%) and

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Publication Date
Mon Aug 03 2020
Journal Name
Rawal Medical Journal
Functional outcomes of sandwich reconstruction technique for giant cell tumor around the knee joint
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Objective: To evaluate the functional outcomes after extended curettage and reconstruction using a combination of bone graft and bone cement (sandwich). Methodology: In this prospective case series 16 skeletally mature patients with primary giant cell tumor around the knee were included. Patients with previous surgically treated, malignant transformation, degenerative knee changes and those presenting with pathological fracture were excluded. The tumor was excised with bone graft filling space beneath the articular cartilage and a block of gel foam was placed over the cortical surface of picked bone graft. Remaining cavity was filled with polymethylmethacrylate cement (sandwich) with or without internal fixation. The func tional evaluation

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