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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
Thu Jun 24 2021
Journal Name
Frontiers In Medicine
The Characterisation of the Craniofacial Morphology of Infants Born With Zika Virus; Innovative Approach for Public Health Surveillance and Broad Clinical Applications
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Background: This study was carried out in response to the Zika virus epidemic, which constituted a public health emergency, and to the 2019 WHO calling for strengthened surveillance for the early detection of related microcephaly. The main aim of the study was to phenotype the craniofacial morphology of microcephaly using a novel approach and new measurements, and relate the characteristics to brain abnormalities in Zika-infected infants in Brazil to improve clinical surveillance.

Methods: 3D images of the face and the cranial vault of 44 Zika-infected infants and matched healthy controls were captured using a 3D stereophotogrammetry system. The CT scans of the brain of t

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Publication Date
Tue May 12 2009
Journal Name
World Environmental And Water Resources Congress 2009
Modeling the Evolution of Incised Streams in Hammar Mesopotomian Marsh with Emphasis on the Contribution of Tidal Flow in the Filling Requirements
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Publication Date
Mon Aug 08 2022
Journal Name
Iop Conference Series: Earth And Environmental Science
Effect of Foliar Spray with Yeast Suspension and Foliartal Nutrient Solution on the Mineral Content of Tissue Lime Seedlings Citrus limon L.
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Abstract<p>This study was done in green house of college of Agricultural engineering sciences during the season 2019-2020 to study the effect of the foliar spray with yeast suspension, nutrition solution (Foliartal) and their interaction on some leaf nutrients contents of (<italic>citrus limon</italic> L.) lime seedling was produced from the tissue culture lab. Studied factors were three level (0,7 and 10) g.L<sup>-1</sup> and (0,3 and 5) ml.L<sup>-1</sup> of yeast suspension and foliartal nutrient respectively treatments were distributed in Randomized Completely Block Design (RCBD) with two replicates the test LSD used in order to compare between means at 0.05% pro</p> ... Show More
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Publication Date
Mon Aug 01 2022
Journal Name
Journal Of Engineering Science And Technology
NUMERICAL INVESTIGATION OF DIESEL ENGINE PERFORMANCE OPERATED IN DUAL FUEL PHASE WITH INCREASING SYNGAS DIESEL ADDITION RATIO AND LAMBDA VALUE OF 1
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Publication Date
Mon Feb 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Evaluation of real estate investment projects with framework theory of real options: A case study in the shopping center project (Baghdad Mall)
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Focused research aims to provide a framework cognitive analytical nature of real estate investments and how they evaluated in the light of the assessment tools of modern theory of real options, and the possibility to rely on that theory in the detection of the true value of projects, real estate investments that would maximize the value of the investment decision taken, and the analysis of those projects that arise in the real estate markets and environments is the organization, which she was to make sure cases and high-risk, compared with entrances techniques, discounted cash flow (net present value). Based on the assumption lies in the possibility of the application of the implic

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Publication Date
Fri Feb 27 2026
Journal Name
Journal Of The College Of Law /al-nahrain University
The financial regulations approved in private universities and colleges in accordance with the Law of Private Higher Education No. (25) of 2016
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Publication Date
Fri Feb 27 2026
Journal Name
Modern Sport
Design and standardization of two scoring tests for the initial selection of people with simple mental disabilities in five-a- Side Soccer
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The five-a- Side Soccer for simple mental disability is as interesting and caring as many other sporting events. Therefore, the researchers believe that their basic skills tests are compatible with then level of the tested individuals in terms of age and mental ability. As a means of selecting those who are qualified to practice this game in a simple way, the problem of research has been identified in the design and standardization of two scoring skills that belong to this category and are approved by the training staff during the initial selection process. The research community is determined by people with mental disabilities who belong to the governmental and private institutes and the Special Olympics Union in Baghdad and for the year 2

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Publication Date
Sun Jan 02 2011
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Relation-ships of neonatal septicemia with the mean serum levels of IL-8 and IL-1 in three large hospitals in Baghdad
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Publication Date
Sun Jan 01 2023
Journal Name
Dental Hypotheses
Effect of Dentin Surface Pretreatment With Chitosan Nanoparticles on Immediate and Prolonged Shear Bond Strength of Resin Composite: An in Vitro Study
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Publication Date
Mon May 11 2020
Journal Name
Baghdad Science Journal
Oscillation Criteria for Solutions of Neutral Differential Equations of Impulses Effect with Positive and Negative Coefficients: eventually positive solutions and differential inequalities
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In this paper, some necessary and sufficient conditions are obtained to ensure the oscillatory of all solutions of the first order impulsive neutral differential equations. Also, some results in the references have been improved and generalized. New lemmas are established to demonstrate the oscillation property. Special impulsive conditions associated with neutral differential equation are submitted. Some examples are given to illustrate the obtained results.

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