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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
Mon Apr 03 2023
Journal Name
Journal Of Educational And Psychological Researches
The Effectiveness of Applying Social Stories in Developing Social Interaction Skills among Children with Autism Spectrum Disorder
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Abstract

The current research aims to identify the effectiveness of social stories in increasing social interaction among children with an autism spectrum disorder. The researcher used the single-subject design methodology (Single Subject Designs, SSD) with

 (A-B) design to answer the research questions. The study sample consisted of (3) children with autism spectrum disorder enrolled in a transit daycare center in the Asir region, Saudi Arabia. The results of the study showed that there is a positive functional relationship between social stories and play to increase social interaction among children with autism spectrum disorder, which contributed to the acquisition and generalization of this behav

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Detection the level of YKL-40 biochemical marker and vitamin D level in sera of Iraqi Uterine cancer females' patients
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Objective: Detection the level of YKL-40 biochemical marker and vitamin D level in sera of Iraqi uterine cancer
females' patients.
Methodology: This study included 90 female volunteers, 30 of them were healthy volunteers who were
considered as a control group, while sixty serum samples were collected from women patients suffering from
uterine tumors (30 malignant and 30 fibroid benign tumors), benign cases were considered as a disease
control group for malignant tumors. The average age of those females was 30-75 years, which matched the
control group. All the samples were collected from Azady hospital in Kirkuk and the gynecologic department at
Medical City in Baghdad during October /2012 to May /2013. All the serum

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Publication Date
Tue Nov 14 2017
Journal Name
Indian Journal Of Clinical Biochemistry
Visfatin, PON-1 Levels in Iraqi Hyperthyroidism Patient’s with Dyslipidemia
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Publication Date
Wed Dec 30 2020
Journal Name
Journal Of Planner And Development
Basmaya Residential Complex compatibility with the Iraqi Green Architecture Code
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The increase in the Iraqi population put pressure on urban cities as there were no new cities built since the 1980s due to the wars and the economic blockade imposed in 1991 and the deteriorating security situation after 2003, where the population in 2018 reached about forty million people. Iraq also suffered during the past decades from problems and challenges in many respects that affected the local environment, and the constructed buildings had a role in increasing these impacts, so the Ministry of Housing worked to issue the Iraqi Green Architecture Code in 2019 to reduce damage to the environment and use resources more efficiently. And because the constructed buildings were not constructed according to green standards, including Bas

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Publication Date
Sun Dec 18 2022
Journal Name
College Of Education For Women
Investigating Iraqi EFL Teachers Problems with English for Iraq Series
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Iraqi EFL teachers face problems in teaching “English for Iraq Series” for primary public school pupils. In this paper, the researchers are going to identify the main problems faced by our teachers and try to find solutions to these problems. To achieve the aim of the study, list of questions asked and from teachers’ responses, the researchers have got an idea about the main problems which are related to textbook material, parents, learners, environment and technology. Therefore, the researchers adapted a questionnaire to achieve the purpose of the study with some changes and modifications. This questionnaire with five point scale (strongly agree, agree, undecided, disagree, strongly disagree). To achieve face validity, the

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Publication Date
Tue Dec 29 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Medication Safety in Patients under 18 Years Old; a Retrospective Study based on Iraqi Pharmacovigilance Center Database
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Medication safety is an important part of the comprehensive patient safety term. Medication safety is gaining more attention as the World Health Organization set the goal of decreasing medication harm by (50%) for the next 5 years when launching the third global challenge. Studying medication safety in the risk groups such as young ages, children are crucial to learn more about the effect of medicines in this risk group since they are not included in the clinical trials. Adverse drug reaction is defined as any harm resulted from the drug itself during medical process journey, while medication errors are any harm resulted from the treatment process rather than the drug or it is the result of the failure in a step of the treatment process

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Publication Date
Sun Jan 04 2015
Journal Name
Journal Of Educational And Psychological Researches
Smart thin king and its relation with cognitive (intuitive- Systematic) style among the university lecturers
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Smart thinking requires a continuous flexible systeroatic  teaching in order that the lecturer can reach at easily, The Successful individuals in smart thin king are the most knowledgably with  it, where the cognitive (intuitive- systematic) style has common bases with another cognitive styles in many traits, and these two concepts are the core of theorization of the rost important cognitive styles. The present study aims to measure the Smart thinking among university lecturers according to sex variable and recognize the statistically differences significance in the level of cognitive (intuitive- systematic) style among the university lecturers according to sex variable and recognize the correlation between smart thinki

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Publication Date
Tue Oct 05 2021
Journal Name
The Scientific World Journal
The Relation among Teeth and Maxillary Dental Arch Dimensions with Anterior Teeth Angulation and Inclination
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Objectives. This study aimed at finding out whether anterior teeth angulation and inclination have a relationship with the maxillary teeth and dental arch dimensions. Methods. Fifty study models with normal occlusion were selected from the archive of the Department of Orthodontics at Baghdad Dental Faculty. Maxillary dental arch width and length at different points were determined in addition to measuring anterior teeth angulation, inclination, crown thickness, overjet, overbite, and Bolton’s ratios. The unpaired t-test and Pearson’s correlation coefficient test were used for data analysis. Results. No statistical gender differences were reported in all measurements except the dental arch widths and length where males had signif

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Publication Date
Sun Sep 01 2019
Journal Name
American Journal Of Pharmaceutical Education
Quantitative and Qualitative Factors Associated with Social Isolation Among Graduate and Professional Health Science Students
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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research & Development
Impact of Breast Feeding Duration on the Presence of <i>Candida</i> in Relation to Nonnutritive Sucking Habit among Group of Iraqi Children
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