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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Tue Jan 01 2019
Journal Name
Opcion- Universidad Del Zulia
Sample for the inner control on the quality in accordance with standard
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Publication Date
Tue Oct 01 2024
Journal Name
Journal Of Physics: Conference Series
The operational matrices for Elliptic Partial Differential Equations with mixed boundary conditions
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Abstract<p>The purpose of this research is to implement the orthogonal polynomials associated with operational matrices to get the approximate solutions for solving two-dimensional elliptic partial differential equations (E-PDEs) with mixed boundary conditions. The orthogonal polynomials are based on the Standard polynomial (<italic>x<sup>i</sup> </italic>), Legendre, Chebyshev, Bernoulli, Boubaker, and Genocchi polynomials. This study focuses on constructing quick and precise analytic approximations using a simple, elegant, and potent technique based on an orthogonal polynomial representation of the solution as a double power series. Consequently, a linear </p> ... Show More
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Publication Date
Wed Dec 04 2013
Journal Name
1st Post – Graduate Students Conference, Alnahrain University / College Of Engineering
Convection Heat Transfer in Horizontal Annulus Porous Media with Rotating Outer Cylinder
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A numerical investigation of mixed convection in a horizontal annulus filled with auniform fluid-saturated porous medium in the presence of internal heat generation is carried out.The inner cylinder is heated while the outer cylinder is cooled. The forced flow is induced by thecold outer cylinder rotating at a constant angular velocity. The flow field is modeled using ageneralized form of the momentum equation that accounts for the presence of porous mediumviscous, Darcian and inertial effects. Discretization of the governing equations is achieved usinga finite difference method. Comparisons with previous works are performed and the results showgood agreement. The effects of pertinent parameters such as the Richardson number and internalRay

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Publication Date
Sat Aug 31 2024
Journal Name
International Journal Of Intelligent Engineering And Systems
Credit Card Fraud Detection Using an Autoencoder Model with New Loss Function
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Publication Date
Wed Sep 01 2021
Journal Name
Iraqi Journal Of Physics
Surface Plasmon Plastic Optical Fiber Resonance with Multi-Layer as Chemical Sensor
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A chemical optical fiber sensor based on surface plasmon resonance (SPR) was developed and implemented using multimode plastic optical fiber. The sensor is used to detect and measure the refractive index and concentration of various chemical materials (Urea, Ammonia, Formaldehyde and Sulfuric acid) as well as to evaluate the performance parameters such as sensitivity, signal to noise ratio, resolution and figure of merit. It  was noticed that the value of the sensitivity of the optical fiber-based SPR sensor, with 60nm and 10 mm long, Aluminum(Al) and Gold (Au) metals film exposed sensing region, was 4.4 μm, while the SNR was 0.20, figure of merit was 20 and resolution 0.00045. In this work a multimode

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Publication Date
Sat Sep 01 2018
Journal Name
Iraqi Journal Of Science
Polymer optical fiber sensor side-pumped with polymer clad doped lasing compounds
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Publication Date
Sun Dec 31 2017
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Heat Transfer and Hydrodynamic in Internal Jacket Airlift Bioreactor with Microbubble Technology
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   Integration of laminar bubbling flow with heat transfer equations in a novel internal jacket airlift bioreactor using microbubbles technology was examined in the present study. The investigation was accomplished via Multiphysics modelling to calculate the gas holdup, velocity of liquid recirculation, mixing time and volume dead zone for hydrodynamic aspect. The temperature and internal energy were determined for heat transfer aspect.

   The results showed that the concentration of microbubbles in the unsparged area is greater than the chance of large bubbles with no dead zones being observed in the proposed design.  In addition the pressure, due to the recirculation velocity of liquid around the draft

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
peridos for transversal coincidence maps on compact manifolds with a given cohomology
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Publication Date
Mon Jan 01 2018
Journal Name
Applied Science Reports
Facial Acne Therapy by Using Pumpkin Seed Oil with Its Physicochemical Properties
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The herbal remedy individually or in combination with standard medicines has been used in diverse medical treatises for the cure of different diseases. Pumpkin seed oil is one of the recognized edible oil and has substantial medicinal properties due to the presence of unique natural edible substances. Inflammation is an adaptive response that is triggered by noxious stimuli and conditions, which involves interactions amongst many cell types and mediators, and underlies many pathological processes. Unsaturated fatty acids (UFAs) can influence inflammation through a variety of mechanisms, and have been indicated as alternative anti-inflammatory agents to treat several inflammatory skin disorders. Pumpkin seed oil is rich in (UFAs), that its t

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Publication Date
Thu Nov 17 2016
Journal Name
International Journal Of Computer Applications
Colour Recognizing Robot Arm Equipped with a CMOS Camera and an FPGA
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In this paper a system is designed on an FPGA using a Nios II soft-core processor, to detect the colour of a specific surface and moving a robot arm accordingly. The surface being detected is bounded by a starting mark and an ending mark, to define the region of interest. The surface is also divided into sections as rows and columns and each section can have any colour. Such a system has so many uses like for example warehouses or even in stores where their storing areas can be divided to sections and each section is coloured and a robot arm collects objects from these sections according to the section’s colour also the robot arm can organize objects in sections according to the section’s colour.

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