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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.

Scopus
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Publication Date
Sat May 16 2009
Journal Name
Journal Of Planner And Development
Quantitative analysis of the economic characteristics of the land transport network
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Highway network could be considered as a function of the developmental level of the region, that it is representing the sensitive nerve of the economic activity and the corner stone for the implementation of development plans and developing the spatial structure. The main theme of this thesis is to show the characteristics of the regional highway network of Anbar and to determine the most important effective spatial characteristics and the dimension of that effect negatively or positively. Further this thesis tries to draw an imagination for the connection between highway network as a spatial phenomenon and the surrounded natural and human variables within the spatial structure of the region. This thesis aiming also to determine the natu

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Publication Date
Mon Dec 15 2025
Journal Name
International Journal Online Of Humanities
Social Media Portrayals of War of Waters: A Critical Discourse Analysis
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Although war of waters has existed throughout history, it has gained increasing relevance in recent decades, particularly in regions where transboundary rivers are politically contested. One of the most critical and ongoing disputes is between Iraq and Turkey over the control on the Tigris and Euphrates rivers. The study seeks to achieve three primary objectives: investigating the types of transitivity processes most frequently used in the politicians' utterances; analysing how the positive self-representation and negative other-representation are uncovered in the politicians' utterances; and exploring the similarities and differences in these linguistic tools between the two opposing sides. To achieve these objectives, the research

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Crossref
Publication Date
Sun Dec 01 2019
Journal Name
Journal Of Engineering
Analysis of Prosthetic Running Blade of Limb Using Different Composite Materials
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Prostheses are used as an alternative to organs lost from the body. Flex-Foot Cheetah is considered one of the lower limb prostheses used in high-intensity activities such as running. This research focused on testing two samples of Flex-Foot Cheetah manufactured of two various materials (carbon, glass) with polyester and compare between them to find the foot with the best performance in running on the level of professional athlete. In the numerical analysis, the maximum principal stress, maximum principal elastic strain, strain energy; finally, the blade total deformation were calculated for both feet. In experimental work, the load-deflection test was done for foot to calculate the bending the results were very close to

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Publication Date
Mon May 01 2017
Journal Name
2017 5th International Conference On Information And Communication Technology (icoic7)
Analysis of the number of ants in ant colony system algorithm
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Publication Date
Sat Feb 02 2019
Journal Name
Journal Of The College Of Education For Women
The Information Effect in Iraqi Universities: The Information Effect in Iraqi Universities
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Abstract:
This research (The effect of information in Iraqi universities) wants to
explain the aims and the opinions of Iraqi universities lecturers during the
globalization era and information technology .
The results we have got about using the computers by the lecturers of
Iraqi universities just in illustration and statistic as depends on there works

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Publication Date
Wed Sep 15 2021
Journal Name
Al-adab Journal
Ecole des Annals and Iraqi Perception: Its Impact on Early Iraqi Historians
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Crossref
Publication Date
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For
Relation Study between Chromogranin a and Other Clinical Biomarker in Iraqi Children with Growth Hormone Deficiency Undergo Treated Via Recombinant Growth Hormone
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Growth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children

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Publication Date
Wed Jan 01 2014
Journal Name
Department Of Bioengineering And Sciences
1 T.R. KAHRAMANMARAŞ SÜTÇÜ İMAM UNIVERSITY GRADUATE SCHOOL OF NATURAL AND APPLIED SCIENCE Cloning and overexpression of Lactobacillus acidophilus bile salt hydrolase A gene (bshA) in Escherichia coli
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The bile salt hydrolase gene (bshA), encoding bile salt hydrolase enzyme (EC 3.5.1.24) from probiotic isolate Lactobacillus acidophilus Ar strain which is responsible for assimilation cholesterol were studied in the present work. About 801 bp in length DNA fragment of Lb. acidophilus Ar strain was amplified by PCR techniques. Two restriction sites (PstI/SacI) were added to each end of that fragment for manipulation of DNA during cloning. Amplified fragment inserted into pJET1.2\blunt end vector and pMG36e vector respectively. pJET1.2\blunt end vector is overexpression plasmid for E. coli MC1022, and pMG36e vector is a shuttle vector which is able to replicate in both E. coli and lactic acid bacteria. The resulted constructs were named as pJ

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Publication Date
Wed Dec 29 2021
Journal Name
Journal Of The College Of Education For Women
Professional Development and its Relationship with some Variables in the Light of Sullivan Theory among Male and Female Teachers in the Basic Education Schools in Sultanate of Oman: سالم بن ناصر بن سعيد الكحالي
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The study aims to reveal the level of professional development in basic education schools from the male and female teachers’ viewpoint in the Sultanate of Oman. It further aims to examine its relationship with some variables in light of Sullivan theory, and the differences in the level of professional development (teachers’ skills, professional participation, professional development problems) according to the gender variable, and the educational stage (first cycle/ second cycle). The study sample consisted of (93) teachers distributed as such: (46) male teachers, and (47) female teachers. A questionnaire was prepared and applied to measure the level of the professional development of the male and female teachers. The questionnaire c

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Crossref
Publication Date
Wed Oct 07 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Immunohistochemical assessment of tumor suppressor gene Wwox in relation to proliferative marker KI67 proteins expression in giant cell lesions of the jaws and giant cell tumor of long bones
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Background: Peripheral giant cell lesion (PGCL) and central giant cell lesion (CGCL) of the jaws have a distinct clinical behavior.Giant cell tumour (GCT) is a benign locally aggressive neoplasm affects the long bones. Both lesions are characterized histologically by multinucleated giant cells in a background of ovoid to spindle-shaped mesenchymal cells. The WW domain-containing oxidoreductase (WWOX) gene is located at 16q23.1–16q23.2, a region that spans the second most common human fragile site, FRA16D, at 16q23.2.The Ki-67 antigen is a nuclear protein that is associated with and may be necessary for cellular proliferation.Ki-67 protein is present during all active phases of the cell cycle (G1, S, G2, and mitosis), but is absent fr

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