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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
Wed Nov 02 2022
Journal Name
Turkish Journal Of Computer And Mathematics Education (turcomat)
Mpeg-Dash System via HTTP2 Protocol with HEVC Encoder for Video Streaming Services
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MPEG-DASH is an adaptive bitrate streaming technology that divides video content into small HTTP-objects file segments with different bitrates. With live UHD video streaming latency is the most important problem. In this paper, creating a low-delay streaming system using HTTP 2.0. Based on the network condition the proposed system adaptively determine the bitrate of segments. The video is coded using a layered H.265/HEVC compression standard, then is tested to investigate the relationship between video quality and bitrate for various HEVC parameters and video motion at each layer/resolution. The system architecture includes encoder/decoder configurations and how to embedded the adaptive video streaming. The encoder includes compression besi

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Publication Date
Mon Aug 01 2016
Journal Name
2016 38th Annual International Conference Of The Ieee Engineering In Medicine And Biology Society (embc)
Selecting the optimal movement subset with different pattern recognition based EMG control algorithms
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Publication Date
Fri Mar 01 2013
Journal Name
Experimental Parasitology
An Acanthamoeba castellanii metacaspase associates with the contractile vacuole and functions in osmoregulation
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Publication Date
Sun Feb 03 2019
Journal Name
Journal Of The College Of Education For Women
Emotional deprivation and its relation with the behavioral and nervous problems for adolescents
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Publication Date
Tue Aug 22 2017
Journal Name
Heat Transfer—asian Research
Thermal Enhancement from Pin Fins by Using Elliptical Perforations with Different Inclination Angles
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Abstract<p>Many of the proposed methods introduce the perforated fin with the straight direction to improve the thermal performance of the heat sink. The innovative form of the perforated fin (with inclination angles) was considered. Present rectangular pin fins consist of elliptical perforations with two models and two cases. The signum function is used for modeling the opposite and the mutable approach of the heat transfer area. To find the general solution, the degenerate hypergeometric equation was used as a new derivative method and then solved by Kummer's series. Two validation methods (previous work and Ansys 16.0‐Steady State Thermal) are considered. The strong agreement of the validation results (0.3</p> ... Show More
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Publication Date
Sat Mar 01 2008
Journal Name
Iraqi Journal Of Physics
Transverse Magnetic Form Factor for 13C(e,e) 13C with Core-Polarization Effects
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Elastic magnetic M1 electron scattering form factor has been calculated for the ground state J,T=1/2-,1/2 of 13C. The single-particle model is used with harmonic oscillator wave function. The core-polarization effects are calculated in the first-order perturbation theory including excitations up to 5ħω, using the modified surface delta interaction (MSDI) as a residual interaction. No parameters are introduced in this work. The data are reasonably explained up to q~2.5fm-1 .

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Publication Date
Wed May 18 2016
Journal Name
Al-academy
Stereotactic and its association with cognitive performance career: صلاح نوري محمود - ظبية محمد
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The importance of this study of the growing importance of perception of touch and its association with the job performance of industrial product since the perception stereotactic means he means practiced by the individual through job performance and has assets of knowledge in the mind of the user and require him to mind the capabilities and knowledge cognitive following their individual focus Zhennea.oanfalh following their enthusiasm when using Sense of touch. The study in the first chapter of the research problem to reveal the role played by the process of cognition and its relationship with the touch function of the industrial product and the associated defect in performance and harder to use. The study also pointed to the research ob

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Publication Date
Tue Oct 01 2013
Journal Name
Journal Of Economics And Administrative Sciences
Comparison between Process Control Charts and Fuzzy Multinomial Control Charts with Practical Appliance
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     The control charts are one of the scientific technical statistics tools that will be used to control of production and always contained from three lines  central line and upper, lower lines to control quality of production and represents set of numbers so finally the operating productivity under control or nor than depending on the actual observations. Some times to calculating the control charts are not accurate and not confirming, therefore the Fuzzy Control Charts are using instead of Process Control Charts so this method is more sensitive, accurate and economically for assisting decision maker to control the operation system as early time. In this project will be used set data fr

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Publication Date
Wed Feb 01 2017
Journal Name
Journal Of Controlled Release
Surface engineering tumor cells with adjuvant-loaded particles for use as cancer vaccines
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Publication Date
Tue Jun 30 2015
Journal Name
Al-kindy College Medical Journal
Familial Pulmonary Alveolar Microlithiasis: A Rare Case Report with Emphasis on Imaging Findings
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ABSTRACT Pulmonary alveolar microlithiasis is rare infiltrative pulmonary disease characterized by intra-alveoli deposition of microliths. We present a familial case of an adult female with complaint of progressive shortness of breath on exertion. Chest radiograph showed innumerable tiny dense nodules, diffusely involving both lungs mainly the lower zones. High-resolution CT scan illustrated widespread intra-alveolar microliths, diffuse ground-glass attenuation areas and septal thickening predominantly in the basal regions. Chest radiograph is all that is needed for the diagnosis of this case but CT scan was done to demonstrate the extent and severity of this disease

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