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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
Sun Oct 01 2023
Journal Name
Baghdad Science Journal
Small Horizontal Wind Turbine Design and Aerodynamic Analysis Using Q-Blade Software
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Wind energy is one of the most common and natural resources that play a huge role in energy sector, and due to the increasing demand to improve the efficiency of wind turbines and the development of the energy field, improvements have been made to design a suitable wind turbine and obtain the most energy efficiency possible from wind. In this paper, a horizontal wind turbine blade operating under low wind speed was designed using the (BEM) theory, where the design of the turbine rotor blade is a difficult task due to the calculations involved in the design process. To understand the behavior of the turbine blade, the QBlade program was used to design and simulate the turbine rotor blade during working conditions. The design variables suc

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Publication Date
Sat Oct 01 2016
Journal Name
Al–bahith Al–a'alami
From Structure to the Signal (Text and Discourse in the Semiotic Analysis)
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Care and attention to the structure in the sixties of the last century replaced the mark, and if the structure of Ms. pampered in research and studies, it has become the mark is also a spoiled lady .. But the relationship between the structure and the mark was not a break and break, but the relationship of integration, His themes are structural analysis, and these are intellectual themes that can not be surpassed in contemporary research, especially since semiotics have emerged from the linguistic inflection.

We have tried to distinguish between text and speech, which is a daunting task, as it seems that whenever the difference between them is clear and clear, we come back to wonder whether the text is the same discourse, and is

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Publication Date
Fri Dec 01 2017
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Integration between value chain analysis and balanced scorecard to for performance evaluation
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The performance evaluation process requires a set of criteria and for the purpose of measuring the level of performance achieved by the Unit and the actual level of development of its activities, and in view of the changes and of rapid and continuous variables surrounding the Performance is a reflection of the unit's ability to achieve its objectives, as these units are designed to achieve the objectives of exploiting a range of economic resources available to it, and the performance evaluation process is a form of censorship, focusing on the analysis of the results obtained from the achievement All its activities with a view to determining the extent to which the Unit has achieved its objectives using the resources available to it and h

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Publication Date
Sun Feb 25 2024
Journal Name
Baghdad Science Journal
Sentiment Analysis on Roman Urdu Students’ Feedback Using Enhanced Word Embedding Technique
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Students’ feedback is crucial for educational institutions to assess the performance of their teachers, most opinions are expressed in their native language, especially for people in south Asian regions. In Pakistan, people use Roman Urdu to express their reviews, and this applied in the education domain where students used Roman Urdu to express their feedback. It is very time-consuming and labor-intensive process to handle qualitative opinions manually. Additionally, it can be difficult to determine sentence semantics in a text that is written in a colloquial style like Roman Urdu. This study proposes an enhanced word embedding technique and investigates the neural word Embedding (Word2Vec and Glove) to determine which perfo

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Dental Caries Experience and Salivary Elements Among A Group of Young Adults In Relation to Age and Gender
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ABSTRACT Background: Dental caries is a most common social and intractable infectious disease in human. Saliva is critical for preserving and maintaining oral health and salivary elements had many effects on caries experience. Aim of study: This study was conducted to assess dental caries severity by age and gender and their relation to salivary zinc and copper among a group of adults aged (19-22) years. Materials and methods: After examination eighty persons aged 19-22 years of both gender. Caries severity was documented according to DMFS index. Stimulated salivary samples were collected and chemically analyzed under standardized condition to detect salivary elements zinc and copper. Concentrations of Zinc and copper were measured by using

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Selected Salivary Biomarkers in Relation to Work-related Musculoskeletal disorders among a Group of Dentists in Baghdad City
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ABSTRACT Background: work-related musculoskeletal disorders represent an important occupational health issues among dentists especially neck and low back complaints. Biomarkers of tissue damage as results of occupational physical demands could be used for detection of work related musculoskeletal disorders. Aim: The aim of this study was to assess work- related musculoskeletal disorders, physical work load index, selected salivary biomarkers (Creatine kinase and C - reactive protein) and to find the relation among them. Subjects and Methods: Study participants are consisted of 112 dentists. They were selected from college of dentistry /Baghdad University, health care center in Bagdad city. They were of both gender and aged between 40-45 yea

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Publication Date
Sun Oct 01 2017
Journal Name
Journal Of Educational And Psychological Researches
The relationship between the multiple intelligence and the numerical sense of mathematic subject among 4th secondary stage students
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The study aimed to investigate the relationship between the multiple intelligence and the numerical sense. The chosen population of the study was the 4th secondary stage students. The sample consisted of 400 female and male student. The researcher utilized two test; multiple intelligence test which include three categories of intelligence (logical-mathematical, spatial, and linguistics) consisted of (36) item, and the numerical sense test that consisted of (44) item. The two tests were constructed by the researcher himself. The psychometric properties of the test were also verified. The results showed that there was a correlation between the multiple intelligence and the numerical sense as well as the students’ means scores

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Publication Date
Thu Jun 28 2018
Journal Name
Journal Of The College Of Education For Women
Self-confidence among the children of Riyadh (Before-during-after) Play and its relation to parental treatment methods
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The basis of the personality of each individual lies in the early years of his or her life. If the personality of the child has been well organized and if the motives have been fully expressed and effectively directed, the child will have a strong will, happy self-confidence and a strong personality. If there is a failure In the early years, the individual will be unable to meet his responsibilities in life and may be the victim of many psychological disorders. The family is a learning process through which children acquire the customs, traditions, attitudes and values ​​prevailing in their social environment. (Pre-and-after) play and its relationship to parenting methods of (democratic-bullying-overprotection- and neglect), which wi

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Publication Date
Wed Mar 16 2022
Journal Name
Journal Of Educational And Psychological Researches
Awareness of Diagnosing Autism Spectrum Disorders and Social (Pragmatic) Communication Disorder among Student Teachers According to Some Variables
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The research aims to identify the level of awareness of student teachers in the behavioral disorders and autism specialization about the diagnosing Autism Spectrum Disorder and Social (Pragmatic) Communication Disorder according to some variables. The study was conducted on a sample of (113) student teachers. The researcher employed the awareness scale of a teacher-screening questionnaire for autism spectrum disorder and social pragmatic communication disorder. The results showed that the average of teachers in the total degree of awareness of autism spectrum disorder and social communication have recorded a moderate degree. As for the awareness of autism spectrum disorder was high. Then, the awareness of social communication disorder wa

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Publication Date
Sat Mar 21 2020
Journal Name
Electronic Journal Of General Medicine
The Possible Immunological Pathways for the Variable Immunopathogenesis of COVID—19 Infections among Healthy Adults, Elderly and Children
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