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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 01 2013
Journal Name
Journal Of Drugs In Dermatology (jdd)
The Therapeutic Role of Isotretinoin in the Management of Behçet's Disease: A Single-Blinded, Controlled Therapeutic Study - JDDonline - Journal of Drugs in Dermatology
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AbstractOBJECTIVES: To evaluate the long-term remission efficacy and safety of isotretinoin in the treatment of Behcet's disease (BD). PATIENTS and METHODS: This single-blind, controlled therapeutic study was conducted in the Department of Dermatology and Venereology at Baghdad Teaching Hospital from February 2011 to January 2012. Thirty patients with BD were included in this work. Each patient received isotretinoin 20 mg orally once daily for 3 months. They were assessed at week 2 and then monthly depending on the Clinical Manifestation Index (CMI) and to record any side effects. At week 12, isotretinoin was stopped and patients were given placebo therapy in a form of glucose capsules for another 3 months. RESULTS: Thirty patients were tre

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Publication Date
Sun Dec 07 2014
Journal Name
Baghdad Science Journal
Effect of NPK fertilizer and root fertilizers Inicium on some physiological characters of Lycopersicon esculentum and its effect on mitotic division index of seedling radical apex
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The experiment was carried out to study the effect of NPK and Inicium using two concentration for each of them 1 and 2 gm/L for NPK and 5 and 10 ml/L for Inicium on some physiological characters of Lycopersicon esculentum and mitotic division index of seedling radical apex. The results showed that all the characters increased plant height, stem diameter, leaves number, length of leaf, lobs number in one leaf, length of root and root diameter. The data showed that the percentage of cell division, mitotic division and Telophase stage increased in seedling radical apex comparison with control plants.

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Publication Date
Tue Feb 14 2023
Journal Name
Journal Of Educational And Psychological Researches
The Effectiveness of Cognitive-Behavioral Guidance Program in Reducing the Level of Addiction on Social Media in a Sample of High School Students in Karak Schools
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Abstract

The current research aims to develop a guidance program suitable for high school students and apply it to them in order to ensure the reduction of addiction to the use of different means of communication. The researchers used the scale of addiction to the means of communication (SAS) to measure the level of addiction as well as to identify the impact of the proposed guidance program in reducing the degree of addiction to communication. It was applied to a sample of (20) female students divided equally into two groups: an experimental group of (10) female students and a control group of (10) female students from the secondary level in a school under the department of education in the education of the alma

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Algebraic Statistics
The effect of compound exercises for the arm least used in developing the accuracy of the passing skill of the handball for ages (15-17) years
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Publication Date
Fri Feb 01 2019
Journal Name
Journal Of Economics And Administrative Sciences
This study sought to determine the impact of spreading the culture of quality in improving the quality of tourism service in some hotels in Erbil governorate
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This study sought to determine the impact of spreading the culture of quality in improving the quality of tourism service in some hotels in Erbil governorate. The theme of excellence in providing service and attention to it has become the concern of most organizations in general and tourism service organizations in particular. Tourists try to establish the mental status of customers about their tourism organizations had to pay attention to the quality of service provided to the customer and work to develop them to the advanced stages of satisfaction and happiness of customers and this will certainly positively affect the improvement of service in the tourism sector, Of the research variables were examined statistically by distrib

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Publication Date
Mon Jan 01 2018
Journal Name
Materials Research Bulletin
Understanding the impacts of Al+3-substitutions on the enhancement of magnetic, dielectric and electrical behaviors of ceramic processed nickel-zinc mixed ferrites: FTIR assisted studies
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Publication Date
Tue Mar 30 2021
Journal Name
Journal Of Economics And Administrative Sciences
The Effect of Organizational Creativity in Enhancing Knowledge Management Processes: survey study for a sample of academic staff members at the Technical College of management / Baghdad)
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In many organizations, employees who have high mental skills are the main source of organizational creativity. When a firm does not put creativity as a goal, cannot stand solid against the competition. Nowadays, knowledge is the path to discover the innovation and creativity aspects, This can assist the firm to stand face to face with competition in the market. The importance of this research comes from detecting and knowing the relation between creativity and knowledge to know and detect the influence of organizational creativity on backing the management of knowledge and determine the final results. The problem of research is to trace the role of organizational creativity on knowledge management processes in order to enable the

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Publication Date
Wed Sep 30 2015
Journal Name
College Of Islamic Sciences
Fundamentalist detective On matters of consensus   Of Khala book complete the teacher benefits of Muslim Judge Ayaz (May God have mercy on him): Comparative fundamentalist study
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Fundamentalist detective
On matters of consensus
  Of Khala book complete the teacher benefits of Muslim
Judge Ayaz
(May God have mercy on him)

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Publication Date
Fri Aug 01 2014
Journal Name
Journal Of Economics And Administrative Sciences
The role of leader-member exchange in the organizational citizenship behavior according to organizational trust Analytical research at the center of Ministry of Migration and Displaced
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This research aimed to examine the correlation and influence of leader-member exchange in the organizational citizenship behavior in the existence of organizational trust as mediator variable among workers in ministry of migration and displaced, has been collecting data and information relating to research by designing questionnaire was distributed to the stratified random sample included (56) member of the workers in the ministry mentioned, and through the use of several statistical method were the main findings of research was the existence of a correlation relationship and influence between leader- member exchange and organizational trust, while the results confirmed no correlation and influen

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Publication Date
Thu Aug 14 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Evaluation the effect of nano-fillers (TiO2, AL2O3, SiO2) addition on glass transition temperature, E-Moudulus and coefficient of thermal expansion of acrylic denture base material
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Background: The PMMA polymer denture base materials are low in thermal and strength properties. The aim of the study was to investigate the change in glass transition temperature, E-Moudulus and coefficient of thermal expansion of acrylic denture base material by addition of Al2O3, TiO2 and SiO2nano-fillers in 5% by weight. Materials and methods: The type of polymerization is free radical bulk polymerization. one hundred twenty (120) specimens were prepared , the specimens were divided into four groups according to the material had been added (one control and three for Al2O3, TiO2 and SiO2nanocomposite) each group was subdivided in to three groups according to the test had been done on it, the degree of transition (Tg) was measured by The d

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